Biomedical Research Health and Disease

Asteroid Hyalosis

By Pratiksha Baliga

Published 7:18 PM EST, Wed April 7, 2021


The vitreous humour is a highly hydrated gel-like substance that provides structural support to the eyeball while providing a clear unobstructed path for light to reach the retina. It comes with hindrance to the forward oxygen diffusion from the retinal blood supply to the anterior segment of the eye where it can cause oxidative damage to the lens. It is an extracellular matrix composed of collagen fibrils with the carbohydrate polymer hyaluronan also called hyaluronic acid, serving as the major component between the fibrils. With age, it may partially liquefy as a result of hyaluronan breakdown associated with oxidative stress. Once liquefied the vitreous does not reform significantly. Opacities may form in the clear vitreous as a result of developmental abnormalities, injury, or diseases. Developmental opacities are present from birth and are remnants of the hyaloid system located in Cloquet’s canal.

Degenerative opacities are associated with inflammatory debris, often appear after ocular inflammation, ocular hemorrhage, posterior vitreous detachment, or vitreous hemorrhage.

One of such commonly observed degenerative opacities is Asteroid Hyalosis, a condition of the eye involving small white opacities of asteroid bodies or calcium fat globules in the vitreous humour. The asteroid bodies are chemically made up of calcium-pyrophosphates and phospholipids. These bodies remain attached to the collagen fibrils of the eye and move only with the movement of the collagen framework. The condition is considered to be degenerative as it is associated with increasing age usually 55 years and more commonly in males than females.

It occurs in only up to 0.2% of people under 55 years of age, while the prevalence in those 75 years or older is 2%-3%.

Fig: Asteroid Hyalosis

Fig: The yellow particles of Asteroid Hyalosis are seen over the optic nerve, which obscures the retina but vision is unaffected

Symptoms, Diagnosis, and Causes

It’s mostly asymptomatic and it does not affect the patients’ vision. It starts with the appearance of small yellow-white spots in the visual field of the patient, usually noticed during an eye examination by a specialist. The spots are very tiny and often hard to see unless observed closely under proper lightning. The white particles are composed of calcium hence to ease the eye examination the patient’s pupils are dilated using an instrument called a slit lamp. A special dye called fluorescein is applied with the administration of eye drops to dilate pupils to see the eye structures. In Asteroid Hyalosis asteroid particles would be visible through the slit beam.

Fig: Asteroid Particles in the vitreous cavity using Slit beam

Method of eye scanning can also be used called optical coherence tomography which will allow the eye specialist to visualize the retina layers in the back of the eye to create a cross-sectional retinal image. It can help provide an accurate anatomic diagnosis.

Fig: Optical coherence tomography appearance of Asteroid Hyalosis

Another method is Fluorescein Angiography which makes use of filters to reduce interference from the calcium bodies and makes diagnosis easier. However, this technique has limited ability to diagnose subtle abnormalities and often produces poor quality images. The requirement of high technical skill for handling the instrument is another challenge.

Fig: Fluorescein Angiography in Asteroid Hyalosis

Research believes that Asteroid Hyalosis is not associated with any particular eye disease but probably can be considered a side effect of certain eye procedures. The exact cause is unknown but it is believed that its association is with health conditions majorly diabetes mellitus. Patients with diabetes mellitus experience vitreous degeneration characterized by precocious liquefaction and posterior vitreous detachment. Biochemical studies have detected that hyperglycemia alters vitreous collagen, changes that might be responsible for the observed vitreous degeneration might cause asteroid hyalosis. It is considered to be unilateral but if it persists with health conditions like diabetes mellitus it should be bilateral because each eye is equally exposed to hyperglycemia.

The overall relationship between diabetes mellitus and asteroid hyalosis is further complicated by suggesting that asteroid hyalosis may arrest the process of vitreous collapse or eye contraction with proliferative diabetic retinopathy.


Asteroid Hyalosis doesn’t require any treatment unless it starts affecting a patient’s eye vision with being blurry/floaters or one has underlying conditions making your eye more vulnerable to damage such as diabetic retinopathy the vitreous humour can be surgically removed and replaced, a procedure of vitrectomy can be performed.

Fig: Procedure of Vitrectomy


The diagnosis and management of Asteroid Hyalosis are essential and should be done with utmost care. The associated health conditions, with the most common ones being diabetes mellitus, hypertension, and hyperlipidemia should be managed by interprofessional team communication with endocrinologists and general physicians along with optometrists, ophthalmologists, ophthalmology nurses, and operating room nurses. The nurses should be involved in the patient’s education and their follow-up, informing the ophthalmologist in case of any issue.

Pratiksha Baliga, Youth Medical Journal 2021


[1]Ratan-NM, R. (2019, April 04). What is Asteroid Hyalosis? Retrieved March 18, 2021, from

[2]Asteroid hyalosis. (2020, December 12). Retrieved March 18, 2021, from

[3]Mishra, C. (2021, February 14). Asteroid hyalosis. Retrieved March 18, 2021, from

[4]Sobti,Matei, D. (n.d.). Visualdx cookie check. Retrieved March 18, 2021, from

Biomedical Research

Einstein’s Brain

By Pratiksha Baliga

Published 9:53 PM EST, Sun February 28, 2021


Albert Einstein was a German theoretical physicist who developed the theory of relativity, one of the two pillars of modern physics.

His brain has long been a subject of research and speculation. It was removed within seven and a half hours of his death by Thomas Harvey, a pathologist.

In 1955, Harvey decided to conduct an investigation of Einstein’s brain. He measured and took photographs of Einstein’s brain for further study. He divided Einstein’s brain into 240 blocks and created 12 sets of 200 slides containing tissue samples indexed to the blocks.

Scientific Study and Observation

Einstein’s brain weighed 1,230 grams (2.7lbs) which was less in comparison to a normal adult male brain, which weighs about 1,400 grams (3lbs).

In 1985, Dr. Marian Diamond received four cortical associated sections of the superior prefrontal and inferior parietal lobes of both the hemispheres of Einstein’s brain from Harvey. Glial cells (glue cells) fix neurons into place and keep them supplied with oxygen and nutrients. She made thin sections of the brain, 6 micrometres in thickness, to carry out microscopic examinations of these sections.

The number of neurons and glial cells were compared in four areas of the brain- Area 9 and 39 of the cerebral cortex on the right and left hemispheres in each area. Area 9 is located in the prefrontal cortex of the frontal lobe and is important for planning behavior, attention and memory. Area 39 is located in the parietal lobe, a part of the association cortex which is important for language and several other complex functions.

Dr. Diamond compared the ratio of the glial cells with that of 11 other males. It was observed that Einstein’s brain had more glial cells relative to neurons in all areas studied, which suggested that they needed and used more energy. 

In 1996, Britt Anderson at the University of Alabama at Birmingham published a study on Einstein’s prefrontal cortex. The thickness of Einstein’s cerebral cortex (area 9) was thinner than the normal brain but the density of neurons were greater. This suggested that the neurons were more tightly packed which might be the reason for Einstein’s faster processing of information.

In a normal human brain, the Parietal Operculum is a part of the parietal lobe that covers the upper part of the insular lobe from the front to the back. Harvey had reported that Einstein had no parietal operculum in either hemisphere, which was later disputed. An enlarged Sylvian fissure, a deep fissure in each hemisphere which separates the frontal and parietal lobes from the temporal lobe, was also found. In 1999, further analysis was done at McMaster University in Canada by Sandra Witelson in The Lancet, which revealed that his parietal operculum region in the inferior frontal gyrus, located in the frontal lobe of the brain, was vacant, and the Sylvian fissure was absent. Researchers theorized that this vacancy encouraged better communication of the neurons. This was considered the reason for Einstein’s spatial cognition and mathematical thought.

Examination of two slices of Albert Einstein’s brain was done containing the hippocampus, which is a subcortical brain structure containing neurons that plays an important role in learning and memory. The left sided neurons were larger than those of the right side in comparison with brain slices of the same area among ordinary people. Einstein’s left part of the brain had stronger nerve cell connections between hippocampus and neocortex as compared to the right.

In 2012, Dean Falk started working with a previously unseen set of photographs of Einstein’s brain taken by Harvey, in which she found many unusual features. One of which was an extra ridge on the mid-frontal lobe, which is concerned with planning and memory. In a normal brain, there are three ridges, whereas in Einstein’s brain, there were four, which justified that his grasping power and memory was slightly better compared to others. She also found that Einstein’s parietal lobes were dramatically asymmetric, and he had a knob on his right motor strip called the “sign of omega,” which is thought to be correlated with musicians who use their left hands and would apply to Einstein.

In 2013, Dean Falk studied Einstein’s unusual corpus callosum, a bundle of fibre which connects the two cerebral hemispheres and helps in communication between both the hemispheres. Einstein’s corpus Callosum was compared with that of 15 elderly people and 52 of the same aged people. It was found that Einstein’s brain had thicker corpus callosum than in control groups and had more connections between certain regions of his cerebral hemispheres in comparison to different and same aged people. This suggested enhanced cooperation between his brain hemispheres.


After carrying out the research of Albert Einstein’s brain, there is no clear conclusion that his mind has a significantly higher level of performance than the average humans. With each study and research in detail, the debated points have the equal potential to out-rule the other. Some points are confirmed while others are yet to be ruled out. Hopefully, the conclusion of this ongoing mystery will soon be discovered.

Pratiksha Baliga, Youth Medical Journal 2021


1)Kremer, W. (2015, April 17). The strange afterlife of Einstein’s brain. Retrieved February 02, 2021, from

2)Chudler, E. (1996). Neuroscience For Kids. Retrieved February 02, 2021, from

Biomedical Research

Overview of Eye Color Depictions


The coloured part of the eye iris has pigmentation which determines our eye colour. Pigmentation varies depending on the melanin concentration in the iris pigment epithelium, iris stroma (located at the back & front of the iris) and the cellular density of the stroma.[1]The darker the eye colour, the more melanin is present in them. According to many studies and new research findings conducted, it is observed that there could be a relationship between a person’s eye colour and personality traits. Europeans have found to have the greatest variation in eye colour with brown being the most common, blue/gray eyes coming up second and the most rare colour being green. Babies usually have blue eyes at first, but they later darken as melanin builds up in the iris. Eyes with the least melanin appear grey or blue, a moderate amount of melanin produce green eyes and those with the highest amounts are brown or black.The person’s eye colour indicates how agreeable that person is like those with lighter-coloured (blue and green) eyes tend to be less agreeable and more competitive than the brown-eyed. Blue and green eyes were also linked to being egocentric and skeptical of others while those with brown eyes were considered more selfless, sympathetic and willing to help others.[2]

Eye Colours and their Personality Traits

Brown eyes

Light to medium brown eyes is the world’s most prevalent eye color, with approximately 79% of the world’s population having them. They tend to be confident, assertive & are great at handling conflict because they are typically agreeable people who are willing to listen to other people’s points of view before giving their own. Chronobiology International published a study which showed that they tend to sleep two hours less than those with light-coloured eyes hence have poorer sleep cycles,thus having a harder time waking up in the morning.Researches particularly one conducted at Georgia State University, say that the melanin causing the brown hue in the eyes makes people more receptive to alcohol and are more likely to be alcoholics. But the later research has shown the opposite to be true.Dark-brown eyes are usually highly pigmented with more melanin, sometimes causing them to look nearly black, since darker the eyes the more melanin is present. They share many of the same traits with light brown eyed people but are more confident than them. They are natural leaders who are mysterious.They tend to drink less than those with lighter eyes. They don’t follow the crowd but the crowd follows them. They are better in sports, requiring hitting targets like tennis.[3]

Black eyes

People with Black eyes are considered to be strong, full of energy, impulsive, often seek dangerous adventures, exhibit great dignity but pretentious, and are secretive and mysterious. They are also very passionate and loyal especially to their friends.[3]

Green eyes

Only 2% of the world’s population have green eyes.The balance of melanin in green eyes contributes to a mix of brown eye and blue eye personality traits. Green eyed people are the most exotic and seductive ones,mysterious with a self-sufficiency attitude, often unpredictable,yet slow to anger. They have a melanin balance which keeps them agreeable yet dominant and strong. They are patient, can restrain their emotions, are original, creative, highly intelligent, intellectual,have a high level of concentration and enjoy freedom.They are considered mysterious,nature admirers and have a positive and creative outlook towards life. Also very jovial, and can easily become jealous but possess lots of love. They are generally sensual and attractive.[3]

Gray eyes

Gray eyes are a sign of a person who obeys society’s standards while being quiet and deceptive.[5]This eye color is a variation of blue eyes and is extremely rare which is 1% of the world population. If one has gray eyes their personality traits vary depending on whether it is dark or light gray. Light gray eyes have much less melanin than dark gray eyes. Those with light gray eyes won’t let just anyone in but once they do, they open up completely and great affection. Whereas Dark gray eyes have a balanced personality with two separate sides, sometimes good and sometimes bad depending upon the situation.[3]

Blue eyes

8-10% of the world’s population are blue eyed, and are considered to share a single ancestor in common.The light blue hue of this eye color is sometimes associated with being soft and timid but they are considered to be the strongest of all as they are better able to tolerate pain than those with any other eye color. They know how to manage their emotions and can handle the negative ones very well as they possess inner and physical strength.They are considered a representation of knowledge,attractive,possessing a peaceful and calm personality. They are considered to exceed expectations especially in academic sciences.[4]

Violet eyes

People with violet eyes are highly imaginative, creative, possess lots of self-esteem,  and are often a perfectionist with high ideals and a high charisma.[3]

Amber eyes

According to researchers Amber eye colour in humans is the rarest (0.01%) which are of solid colour and have a strong tint of yellowish or golden with a copper tint due to deposition of a yellow pigment called lipochrome in the iris. It is a very fascinating eye colour to have because of the mystic personality and aura they carry. Such people are crowd pleasers. They are mistaken to be reserved but in reality they are very warm, charming and a great conversationalist. They are also unique, creative, innovative, trustworthy, like being outdoors and are appealing to others.[3]

Hazel eyes

The unique coloring of hazel eyes is a result of the combination of brown and amber with a unique scattering of light due to materials from the bloodstream that were broken down due to liver imbalance thus might experience digestive issues.They often appear to change colors; more green, amber, or brown depending on their environment. Only 5%of the world’s population have hazel eyes and that goes perfectly with their personality. Hazel eyed people are rare,hard to describe and have a balanced attitude.They are imaginative, determined, love adventures, and often have a boundless inner vitality. They are often risk takers, profound thinkers, courageous, aware of their own limitations, responsible but often have a serious selfish attitude.Two hazel eyes are never exactly the same just like their unique eye colour scheming,thus hard to pinpoint their exact trait.[3]

Figure: Different eye colours[5]


Our eyes are not only the windows to our soul but also to our personality.The pigmentation of our iris influences the way one acts, the things one likes and overall how a person is.Our eye colour always reflects our inner feelings of joy, happiness, compassion, patience, frustration, pain and anger. There is surely a connection between personality traits and iris characteristics which suggests that people with different eye colors tend to develop distinctive personality traits based on eye colors.

Pratiksha Baliga, Youth Medical Journal 2021


[1]Eye color. (2020, September 01). Retrieved September 09, 2020, from

[2](28), R., (13), A., & (66), S. (n.d.). Does Eye Colour indicate Intelligence , Personality or health? Retrieved September 09, 2020, from

[3]Clark, C. (2012, November 12). Does Eye Color Indicate Intelligence or Personality? What Are Your Eyes Telling the World? – Owlcation – Education. Retrieved September 09, 2020, from

[4]Fon, R. (2019, April 25). Scientists Discover Connection Between Eye Colour and Personality – What’s Yours? Retrieved September 09, 2020, from

[5]Eye Color Chart: Color de ojos, Ojos bonitos, Tipos de ojos. (n.d.). Retrieved September 09, 2020, from

Biomedical Research

Botulinum Toxin A: A Guide Towards Enhancing One’s Features


Signs of aging start to appear on every person no matter how young the person is. One must have probably heard the term facial aesthetics either in terms of the overall attractive level of someone’s face or the set of treatments available to help people enhance their features and allow their natural beauty to shine through. These treatments often make use of Botox to soften expression lines and define facial contours adding a glow to one’s face.[1] Botox is considered the best treatment and involves using a purified version of the botulinum type A toxin to reduce unwanted lines and wrinkles on the face restoring a more youthful appearance.[2] 

The face has sets of muscles that contract due to everyday facial expressions which leads to the skin wrinkles as the muscle shortens during contraction, making it move in different directions.

Botox best targets Dynamic wrinkles which are formed by facial movements, such as squinting, smiling and furrowing of the brow. A tiny injection of Botox in the right place weakens the muscle, allows it to relax, and thereby removes the wrinkle.

Along with maintaining wrinkles, it helps in slimming and contouring the face which is achieved by targeting the masseter muscles at the back of the jaw giving a proper square shape to the face. This is called as the masseter reduction. This reduction results in loss of pounds of weight making one’s face look elegant, thus maintaining facial balance which must be enhanced from time to time.

Figure: Illustration of biologically active botulinum toxin protein complex

Mechanism of Action

Botulinum toxin is a two-chain polypeptide consisting of a light chain (approx 50 kDa) and a heavy chain (approx 100 kDa) which are joined by a disulfide bond.[4]This toxin binds to specific receptors on the surface of the presynaptic nerve cells, mediated by the C-terminal of the heavy chain, which takes around half an hour. The plasma membrane of the nerve cells invaginates around the toxin-receptor complex, forming a vesicle containing a toxin in the nerve terminal, the process is known as internalization. Following internalization, is the process of Translocation in which the disulfide bond is cleaved and the 50-kDa light chain of the toxin is released across the endosomal membrane of the endocytic vesicle into the cytoplasm of the nerve terminal.[3]Botulinum toxin can be serologically divided from A to G[4]. The light chain of serotypes A and E inhibit the release of acetylcholine by cleaving the cytoplasmic protein needed for the docking of acetylcholine vesicles on the inner side of the nerve membrane of the nerve terminal[3], thus leading to blocking of the nerve impulses to the tiny facial muscles, forcing them to relax and smoothing out the skin to lessen the appearance of lines and wrinkles.[2]. Following the injection, the toxin diffuses into the tissue until it binds selectively and reversibly in the presynaptic terminal of the neuromuscular junction and then attaches to the specific protein-membrane responsible for acetylcholine excretion.[3] 

Botox is generally injected into the muscles of facial expression which are attached to muscles rather than bones and by contracting, they pull across the skin to give facial expressions.[5]

The After Effects and Precautions

The clinical effects of Botox are seen on the first to the fourth day after injection followed by 1 to 4 weeks of maximum effect, which will resolve after 3–4 months. The effects are temporary and remain maximum for around 6months. In order to prolong its effect from six months to one year, the treatment should be repeated for one year or more. The duration of the Botox effect varies among individuals due to differences in muscle arrangements. According to the American Board of Cosmetic Surgery, Botox injections are the most popular cosmetic procedure nationwide.It is used for reducing glabellar frown lines, crow’s feet at the side of the eyes, horizontal forehead creases, wrinkles around the mouth, nasolabial folds, smoothing out neck and chest or cleavage wrinkles. The procedure takes around 15 to 30 minutes and effects are fully visible in around 7-14 days. Some measures should be taken into consideration before and after the procedure. It’s best to avoid alcohol starting one week before the procedure. One should discontinue medications like Aspirin and anti-inflammatory ones before 2 weeks of the procedure to avoid bruising. After the procedure, one should prefer not to rub on the injection site for at least 24 hours to avoid the spread of Botox to another area. The doctor also advises to stay upright for about 4 hours after the procedure and take a day off from exercising. Like every other treatment, Botox has some advantages along with that some disadvantages also. The disadvantages include crooked smile or drooling, eye dryness or severe tearing, mild pain or swelling around the injection site, weakness in the muscles,flu-like symptoms or a feeling of being unwell, upset stomach, numbness.[5]

Figure: After effects of Botox

Ideal Age

This depends on the benefits of BOTOX on our skin.More sun damage may lead to start treatments in  late twenties to early thirties, while different skin types or lucky genetics could allow one to wait until age 40 or above.

Botox in 20’s: During this age if one has smooth and wrinkle free skin they may go with less or no Botox.If exposure to the sun is more or use tanning beds, are a smoker, or showing early signs of wrinkles due to family tendency, then one must consult a dermatologist for light Botox.

Botox in 30’s: In one’s 30’s firstly the sun exposure is the most important factor common in all age groups. More refined wrinkles may start appearing at this age so this is the best age for Botox treatment. Also if one is a smoker or live in higher altitudes, in such conditions strain on skin is more  thus Botox is the best at this time.

Botox in 40’s: At this time wrinkles are more defined as the skin starts thinning along with the breaking down of the elastin and collagen start becoming more visible. Once the wrinkle lines have etched in and are visible at rest and even remain when one stretches their skin with their fingers, it’s an indication of the ideal age group for Botox.[6]


For many generations, a lot of people have benefited from BOTOX Treatment. Not only it is highly effective for smoothing wrinkles and reducing fine lines but is also used as a facial relaxation treatment which also aids in treating disorders like eye-twitching, hyperhidrosis, and certain cases of Bell’s Palsy. An injection of Botox temporarily prevents muscles from moving and blocks certain chemical signals from nerve endings. This can relax the skin around the area and relieve pain or discomfort from spasms treating eye twitching. They make use of botulinum toxin to block the nerve signals responsible for sweating, stopping the sweat glands from producing too much sweat thus treating hyperhidrosis. A Botox treatment for permanent or longstanding Bell’s palsy is available to help patients mitigate the effects of unilateral facial weakness. It relaxes hyperactive muscles and temporarily restores facial symmetry, resulting in an improved facial appearance.

Botox injections have been widely acclaimed for their short-term, anti-ageing properties. The procedure has gained popularity as it is non-invasive, leaves no scars and the recovery period is low. However it should be remembered that Botox is an addiction inducing substance and its patrons may become heavily dependent on the drug to make one look young and feel good.

Pratiksha Baliga, Youth Medical Journal 2020


[1]Dental, S. (2019). What are Facial Aesthetics? A Guide to Enhancing Your Features. Retrieved December 02, 2020, from

[2]Care, V. (2016, March 16). Botox and facial aesthetics: The perfect complement to cosmetic dentistry. Retrieved December 02, 2020, from

[3]Satriyasa, B. (2019, April 10). Botulinum toxin (Botox) A for reducing the appearance of facial wrinkles: A literature review of clinical use and pharmacological aspect. Retrieved December 02, 2020, from

[4]Satriyasa, B. (2019, April 10). Botulinum toxin (Botox) A for reducing the appearance of facial wrinkles: A literature review of clinical use and pharmacological aspect. Retrieved December 02, 2020, from

[5]Cassoobhoy, A. (2020, July 24). Botox Injections: Purpose, Procedure, Risks, Results. Retrieved December 02, 2020, from

[6]Krant, J. (2018, February 22). What Is The Right Age To Start Getting BOTOX®? – Art of Dermatology: New York. Retrieved December 02, 2020, from
























Biomedical Research

Telemedicine: A Virtual Visit


Telemedicine is the use of electronic communications and software by health care professionals to evaluate, diagnose, and treat patients at a distance. It includes a growing variety of applications and services using two-way video, e-mail, smartphones, wireless tools, and other forms of telecommunication technology. Patient consultations through video conferencing, transmission of still images, e-health including patient portals, remote monitoring of vital signs, continuing medical education are all considered a part of telemedicine.


During the admission of a patient to a hospital, the patient along with the family members have to bear a lot of expenses like traveling, medicine, and the stay in the hospital till the treatment is completed. Telemedicine provides a means to reduce this expenditure by contacting the doctors through electronic devices from their current location. The doctors can schedule appointments that notify the patient and give guidelines along with additional advice like curbing obesity rate and tobacco use by encouraging them to improve their lifestyle choices. It ensures regular follow-ups, reporting early warning signs even if the patient is in any part of the world. Proper and remote monitoring of the patient can be done along with solving queries to ensure they are on track. When patients are committed to their own healthcare goals, it leads to lower costs and improved health. Some studies also reveal that telemedicine patients score lower for depression, anxiety, and stress and have 38% fewer hospital admissions. In a doctor’s clinic or hospital, there are a lot of chances of transmission of infections or diseases from patient to patient or patient to doctor. By telemedicine, the risk of exposure and infection transmission is reduced.

It is also beneficial for the doctors, especially the primary care ones, to contact specialists irrespective of their location and communicate easily for a second opinion and detailed advice. This benefit provides improved access and consultation for better treatment. Telemedicine comes into play in a clinic setup where the doctor has a lot of overhead expenses like buying a clinic or if rented then paying the rent to the owner, examination beds for patient’s checkup, the need of various types of equipment and staff members for managing the clinic. Through telemedicine, the doctors can reduce this extra cost by attending most of the patients online who do not require a physical approach. This aspect ensures increased patient flow and revenue to doctors and reduced transport expenditure to the patients making it beneficial for both the doctors and the patients.


During the scheduled appointment the patient can have any of their family members present with them. If the age of the patient is 16 years or less, or if the patient has some mental conditions like dementia or physical disability due to an accident, then any one of the authorized family members is required to consult the doctor on the patient’s behalf, irrespective of the patient’s presence. At the time of the virtual visit, the doctor must first ensure the consent of the patient before proceeding with the consultation. Then the patient has to provide the doctor with their medical record, enumerating their present condition and the current symptoms to proceed with the best treatment according to the doctor’s advice. The doctor should evaluate and make a decision regarding the preferable consultation medium. Like in cases of appendicitis complaint physical examination is needed and telemedicine cannot be applied. A complaint of headache or fever may not always require a physical examination or audio-visual approach. But in cases of any allergy or any inflammation like Conjunctivitis, the doctor has to decide if a physical or telemedicine approach is needed. During the telemedicine visit disrobing of the patient is mostly never preferred unless there’s an utmost need or in a case where the patient wants an examination of a visible finding concerning them. In such a situation the patient can click a photo of the visible finding and send it to the doctor for the diagnosis. In a telemedicine setup, the first doctor patient consultation need not be an in-person consultation and the doctors can be contacted by the patients from any state. The doctors giving teleconsultation must be a registered practitioner with a degree of MBBS and above. The displaying of their registration number during all the consultation is necessary especially in cases of emails, Whatsapp messages, prescriptions, and on fee receipts.

If the teleconsultation with the patient does not take place over video, then the doctor cannot prescribe any drugs to the patient other than common over-the-counter medications such as paracetamol, O.R.S. solutions, cough lozenges, etc. 

Prescribing drugs for chronic diseases like asthma, diabetes, hypertension should be avoided in telemedicine consultation unless it is an addition to the earlier prescription of an in-person consultation of approximately less than six months ago. If a prescription is necessary then the teleconsultation should be done strictly via video. A prescription can be sent through any electronic medium such as email, Whatsapp as a photo, scan, or digital copy of a signed prescription or an e-prescription.


Telemedicine applications are used for delivering virtual health services from providers to patients. They include all-in-one software platforms to video chat and beyond some of which are widely in talks.

MD Live is an app that provides 24/7 access to doctors, dermatologists, psychiatrists, and counselors who are board-certified with an experience of 15years and above through a mobile app or an online website. Pieces of Advice for routine medical conditions like allergies, common cold, diarrhea, flu are given by well-trained physicians and treatment of depression, anxiety, eating disorders by psychiatrists.

Doctor on demand is being widely used especially in the United States to improve its healthcare system. The main advantage of this is it will reduce the waiting time of the patients who wait for almost 24days and above for the first appointment with the doctor and can connect face to face with doctors and specialists from multiple medical branches. It is free to join and payment is as per consultation which is proven to treat 90% of the common health issues.

Live Health ensures expert medical advice, diagnosis, treatment plans, and prescriptions along with the detailed profile of each doctor giving the choice to choose the doctor of one’s choice according to one’s needs with quite an affordable price.

Talkspace is known for its services to psychiatry and emotionally challenged patients. One can have unlimited talks and also send unlimited messages to your therapist within the privacy of your room and get one to two times messages reply per day. If one needs unlimited chats to get out of their rough times Sibly can also be one’s choice.

Teladoc is said to be ranked at the topmost for telemedicine services in Satisfaction and Customer Service with Direct by J.D. Power. It is also known to be working with 5% of the top-ranking medical specialists. It provides various services like everyday care, behavioral health, dermatology, nutrition, and women’s health doctors, integration with Apple HealthKit, e-Prescriptions, and video conferencing.

Fruit Street especially works on diabetic patients and patients aiming for weight loss. It notifies the patient at the start if they are fit for the program. It is a 12-week program with 26 video chat courses by a registered dietician. Along with the general services of telemedicine apps it has an additional feature of providing a free Fitbit for attending two classes.


Information and Communication Technologies has had a positive impact on the healthcare sector with the innovation of telemedicine in recent times. This impact is not only from a technology point of view but also from a socio-cultural and economic view. The reason lies upon various solutions of day to day challenges such as the demand for healthcare services, population aging, or management of large amounts of information. It is providing a convenient way to deliver and improve access to healthcare for non-emergency issues by saving time and money through online consultation. Thus, telemedicine technology is becoming a viable alternative to an in-person doctor visit.

Pratiksha Baliga, Youth Medical Journal 2020


[1]Heikkila, A. (2020, August 28). Why Telemedicine IS the Future of Healthcare. Retrieved November 10, 2020, from

[2]Telemedicine Benefits and Disadvantages: 10 Pros & Cons. (2020, October 01). Retrieved November 10, 2020, from

[3]Shukla, A., & Upadhyay, A. (2020, March 29). India’s new Telemedicine Practice Guidelines – Analysis and Do’s and Don’ts for Doctors offering teleconsultation. Retrieved November 10, 2020, from

[4]Top 17 Telemedicine Apps to Connect With Your Doctors Online. (2019, May 23). Retrieved November 10, 2020, from

[5]F., S. (2015, February 05). 34 Best Telemedicine Apps for Providers and Patients. Retrieved November 10, 2020, from

Biomedical Research

Artificial Intelligence in Medicine

Artificial intelligence in medical practice is the use of computer techniques to perform clinical diagnoses and suggest treatments in medical areas [1]. It has the capability of detecting meaningful relationships in a data set and could be used for the diagnosis, treatment, and for coming to a particular conclusion. Similar to the way doctors are educated through years of medical schooling and learning from mistakes, artificial intelligence algorithms learn to do the same job as a doctor. They perform tasks requiring human intelligence like pattern and speech recognition, image analysis, and decision making. The Artificial Intelligence algorithm includes feeding data in the computer system, which are structured having a label recognizable to the algorithm, performance is analyzed just like exams give an analysis of a medical student’s performance thus giving results. Based on the results of this analysis the algorithm can be modified, fed more data, or rolled out for the decision-making of the person writing the algorithm [2].

Fig: AI algorithm learning the basic anatomy of a hand and can recreate where a missing digit should be. This could allow physicians to see the proper place to reconstruct a limb/put a prosthetic.

These performances and results are tested with a physician’s performance to determine its clinical ability and value. In medicine language, it includes input data based upon numericals such as Heart Rate or Blood Pressure and based upon images such as Magnetic Resonance Imaging Scans or Images of Biopsy Tissue Samples. The algorithms from this data could be a probability or a classification. The result of the above example could be the probability of having an arterial clot according to the heart rate and blood pressure data or the labeling of an imaged tissue sample by classifying it as cancerous or non-cancerous. There are two recent applications in the Artificial Intelligence of clinical and accurate algorithms benefiting both patient and doctor for the diagnosis. One is the algorithm researchers at Seoul National University Hospital and College of Medicine developed called Deep Learning-based Automatic Detection to analyze chest radiographs and detect abnormal cell growth (cancers). The results were compared to many physician’s detection abilities and were found to perform better than the doctors [2].

Fig: Artificial Intelligence Algorithm. Left panel showing the image fed into an algorithm. The right panel shows a region of potentially dangerous cells, as identified by an algorithm, that a physician should look at more closely.

Fig: Artificial Intelligence algorithm; Deep Learning Method.The left panel shows the original X-ray. The right panel shows the X-ray with orange color indicating signs of pneumothorax which could be unnoticed by radiologists

The second algorithm was developed by researchers at Google AI Healthcare called Lymph Node Assistant which analyzed histology slides stained tissue samples to identify metastatic breast cancer tumors from lymph node biopsies. It could identify suspicious regions of the sample which could not be distinguished with the human eye. It was proven to accurately classify a cancer as cancerous or non-cancerous in 99% of the cases. Hence these algorithms could help doctors with correct diagnosis thus allowing them to invest time in solving cases that computers cannot solve [2].

Fig: AI algorithm; Lymph node biopsy

Artificial intelligence could be considered a boon as it may help for early diagnosis of diseases whose later diagnosis can cause delays in the treatment and may be harmful to the patient. For example, researchers have claimed that it could be used to diagnose Alzheimer’s disease years before symptoms appear. The computers can be trained for brain scans to be able to spot subtle signs of dementia that could be missed by humans allowing early diagnosis. This could probably be done using 18-F-fluorodeoxyglucose positron emission tomography (FDG-PET). In an FDG-PET scan FDG, a radioactive glucose compound is injected into the blood. PET scans can then measure the uptake of FDG in brain cells, an indicator of metabolic activity. Through Deep Learning, the algorithm can teach itself metabolic patterns that correspond to Alzheimer’s disease.If one can detect the symptoms earlier, it would help investigators to find better ways to reduce or halt the disease process. Future research should take into consideration, training the deep learning algorithm to look for patterns associated with the accumulation of beta-amyloid and tau proteins, abnormal protein clumps, and tangles in the brain that are markers specific to Alzheimer’s disease, according to UCSF’s Youngho Seo, Ph.D., which can add another dimension to using Artificial Intelligence in Alzheimer’s disease detection [3].

Fig: Fluorine 18 fluorodeoxyglucose PET images from Alzheimer’s Disease Neuroimaging Initiative set preprocessed with the grid method for Alzheimer disease patient

Artificial Intelligence has many clinical applications to improve patient care and potentially save lives. Maintaining medical records and past history is the first step in health care where robots collect, store, reformat, and trace data to provide faster and more consistent access. They also analyze data including notes and reports from a patient’s file and clinical expertise to help to choose the right treatment pathway [5].There are some latest tools and technology developed in the health care sector based on the Artificial Intelligence algorithm. This includes: MelaFind, which is a tool that does not involve introduction of instruments into the body and gives extra information to dermatologists in early detection and recognition of skin cancer,lesions and helps in it’s examination. It also helps in evaluation of skin lesions up to 2.5 mm beneath the skin. By using Artificial Intelligence based algorithms, dermatologists can analyze irregular moles and diagnose serious skin cancers such as melanoma. The device demonstrated 98.3% sensitivity by correctly identifying 172 out of 175 melanomas and high-grade lesions. Robotic-assisted therapy is used in neurological patients and is specially used for stroke patients’ recovery. The robotic arm and hand use digital algorithms to detect motions that patients cannot execute during therapy thus improving their performance per hour than they would have if worked with a physical therapist alone thus allowing speedy recover[4].Robots can also perform tests, x-rays, CT scans, data entry, and other tasks faster and more accurately. Cardiology and Radiology are two fields where the amount of data to analyze is huge and time-consuming. Future cardiologists and radiologists should look only at the most critical cases in which human monitoring is useful [5]. Caption Guidance, which is an Artificial Intelligence guided ultrasound platform or software capable of instructing clinicians on obtaining a clearer picture of the heart in motion. It will be used for capturing echocardiographic images of the patient’s heart without special training, spotting high-quality 2D heart images, and automatically recording video clips for later analysis, while calculating heart function measures thus improving the diagnosis of heart diseases [4].

Fig: AI tools in health care

Conclusion: Artificial Intelligence will surely improve the healthcare industry, from predictive medical care and more accurate diagnosis to motivating the patients to take care of their health. It will certainly continue enhancing the patient’s experience and healthcare expertise in general. The use of Artificial Intelligence is predicted to decrease medical costs as there will be more accuracy in diagnosis and better predictions in the treatment plan as well as more prevention of disease. It will not replace healthcare workers but instead allow them to spend more time for the bedside care of their patients, resulting in the greater outcomes for all.


[1]Chan, Y., Chen, Y., Pham, T., Chang, W., & Hsieh, M. (2018, July 15). Artificial Intelligence in Medical Applications. Retrieved September 13, 2020, from

[2]Says:, A., Says:, D., Says:, J., Says:, T., Says:, C., Says:, B., . . . *, N. (2019, June 19). Artificial Intelligence in Medicine: Applications, implications, and limitations. Retrieved September 13, 2020, from

[3]Staff, S. (2018, November 06). Artificial intelligence predicts Alzheimer’s years before diagnosis. Retrieved September 13, 2020, from

[4]Swetha. (2019, November 28). 10 Common Applications of Artificial Intelligence in Health Care. Retrieved September 13, 2020, from

[5]Micah Castelo Micah Castelo is a web editor for EdTech: Focus on K-12 and a regular contributor for HealthTech. Her experience includes education and community news coverage for the Syracuse Post-Standard and international news reporting. (2019, May 01). The Future of Artificial Intelligence in Healthcare. Retrieved September 13, 2020, from

Pratiksha Baliga, Youth Medical Journal 2020


The Impact of COVID-19 on Pre-Diabetic Patients


The COVID-19 pandemic is taking a great toll globally. To control the situation effectively, measures to lower the death rate have to be taken. Doctors have already stated that people with comorbidities like diabetes are at a higher risk of getting severe symptoms of COVID-19 infection.

Increase in Risk

The fluid and electrolyte balance of the body is maintained with the help of the renin-angiotensin system. When a person complains of low blood pressure, the renin (present in the kidney) forms angiotensin I by breaking down the enzyme angiotensinogen. Angiotensin-converting enzyme(ACE) converts angiotensin I into angiotensin II to activate it.
This Angiotensin-converting enzyme (usually present on the lungs, kidney, and heart) binds to the Angiotensin-converting enzyme receptors and squeezes the blood vessels, thus raising the blood pressure of the body. Then the Angiotensin-converting enzyme-2 (ACE-2) breaks down the angiotensin II into molecules that neutralize its harmful effects.

SARS-CoV-2 has a high affinity for ACE-2 receptors present on the surface of healthy cells. Thus it attaches itself to the ACE-2 and attacks the lungs, kidney, and heart.
The levels of ACE-2 increase in a diabetic person (a condition with high blood glucose levels, hyperglycemia) allowing the virus to attack the organs of the diabetic person more disastrously. Acute hyperglycemia upregulates ACE-2 expression on cells which might facilitate viral cell entry. Chronic hyperglycemia downregulates ACE-2 expression making the cells vulnerable to the inflammatory and damaging effects of the virus.

Link Between COVID-19 and Diabetes

COVID-19 is an acute respiratory infection caused by a coronavirus named Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) and is spread through air droplets or close contact with an infected person. Often older people(above 65 years of age) & people with pre-existing diabetic conditions are affected.

The risk of a fatal outcome from COVID-19 is up to 50% higher in patients with diabetes. When diabetic patients develop a viral infection it can increase inflammation and the treatment is hard because of fluctuations in blood glucose levels and the presence of diabetic complications. This is because of the compromised immune systems making it difficult to fight with the virus leading to a longer recovery period.

Linked Complications & Risk Factors

Complications like Acute respiratory distress syndrome (ARDS) & multi-organ failure are prevalent in prediabetic Covid-19 patients. It involves the lower respiratory tract which can offset pneumonia, rapidly progressing to ARDS associated with multi-organ failure.
Acute respiratory distress syndrome (ARDS) is a severe lung condition causing fluid accumulation in the alveoli, progressive fibrosis which comprises the gas exchange. The type 1 & 2 pneumocytes lining the alveoli become dysfunctional leading to a decrease in surfactant levels & the ability of lungs to expand causing Sepsis (a serious infection which causes the immune system to attack the body) and Severe pneumonia (Pus collection in air sacs).

COVID-19 prediabetic patients have direct viral invasion which causes functional immune deficiency and directly reduces immune cell function. This leads to diminished bactericidal clearance, increased infectious complications, and protracted sepsis mortality. Thus they may develop pneumonia leading to sepsis.
SARS-CoV-2 infects the upper respiratory tract & circulating immune cells (CD3, CD4, and CD8 T cells) inducing lymphocyte apoptosis with elevated inflammatory biomarkers such as C-reactive protein, serum ferritin, and IL-6. The T cells inhibit the overactivation of innate immunity resulting in lymphocytopenia, which suppresses the innate immune system and enhances the cytokine secretion resulting in a cytokine storm causing a multi-organ failure.

Body mass index (BMI) in obesity of 30 or above increases the risk. Abdominal obesity is associated with a higher risk involving abnormal secretions of adipokines and cytokines like TNF-alpha and interferon which may induce an impaired immune response. Obese people also experience mechanical respiratory problems, with reduced ventilation of the basal lung sections increasing the risk of pneumonia.

If a person with diabetes has a fever from COVID-19, they lose additional fluids. This can lead to dehydration, which may require intravenous fluids.

Diabetes damages arteries with fatty material deposition on their inner walls (atherosclerosis) which can cause Hypertension. Arterial hypertension is also highly prevalent in Covid19 patients due to the use of ACE inhibitors since SARS-CoV-2 binds to ACE2 to enter target cells. ACE inhibitors and angiotensin receptor blockers increase the expression of ACE2 which facilitates target organ infection and promote the progression of the disease.

Management of Diabetes in Patients with COVID-19

In COVID-19 the endothelial dysfunction associated with hypoxia causes intravascular disseminated coagulation. It involves the formation of abnormal clumps of thickened blood clots inside the blood vessels, leading to massive bleeding in other places causing inflammation & infection. Diabetes is associated with a pro-thrombotic state, which plays a key role in blood clotting with an imbalance between clotting factors and fibrinolysis. Pre-Diabetic patients with COVID-19 have a longer prothrombin time and higher concentrations of D-dimer(a small protein fragment in the blood after a blood clot). Other risk factors such as obesity, older age, and being admitted to the hospital could increase the pro-coagulative state and the risk of thrombotic complications.

Diabetes causes disturbance of glucose homeostasis and worsening of hyperglycemia(a characteristic of Diabetic Ketoacidosis). In diabetic patients with Covid-19, there is a direct effect of SARS-CoV-2 binding to ACE receptors expressed in pancreatic tissue and β-cells harming the β-cell function. Therefore there is an acute loss of insulin secretory capacity, stress condition, and a cytokine storm resulting in Diabetic Ketoacidosis (DKA).

Figure 1 : Synopsis of reciprocal effects of diabetes and COVID-19

Poor glycemic control is a risk factor for serious infections but is useful in some conditions like bacterial pneumonia. To maintain optimal glycaemic control it requires frequent blood glucose monitoring and continuous change in anti-diabetic treatment after the measured glucose levels.

Pre-Diabetic patients with COVID-19 infection should have regular blood glucose monitoring and adequate glycemic control which might reduce the risk of this severe infection. Special considerations to avoid certain antihyperglycemic agents should be noted. In Type 2 diabetes, Metformin (initial drug of choice) possesses a risk of dehydration & lactic acidosis hence should be avoided in patients who have greater potential to progress to severe COVID-19. Dipeptidyl peptidase (DPP)-4 inhibitors are well tolerated & can be used as an alternative to Metformin. Sodium-glucose cotransporter-2 inhibitors have risks of dehydration & Diabetic Ketoacidosis which is one of the complications hence avoided. Similarly, Glucagon-like peptide 1 receptor (GLP-1) agonists have a risk of dehydration so patients on these medications should be closely monitored. If any anti-hyperglycemic drugs are discontinued alternate treatment is usually Insulin and it should be continued if it is already ongoing in a patient.

In type1 diabetes frequent blood glucose monitoring every 3-4hrs & adjustments of insulin dose based on blood glucose values is needed. Urine ketones along with blood glucose should be monitored if fever with hyperglycemia occurs. Systematic screening for pre-diabetes in patients with proven COVID-19 infection is advisable.


There is a bidirectional relationship between Covid-19 and diabetes. On one hand, diabetes is associated with an increased risk of severe Covid-19 while on the other hand new-onset diabetes and severe metabolic complications of preexisting diabetes, including diabetic ketoacidosis and hyperosmolar for which exceptionally high doses of insulin are warranted, have been observed in patients with Covid-19.

It is important to recognize the importance of diabetes as a vital comorbidity in patients with COVID-19. Any prediabetic patient who develops COVID-19 symptoms should contact their healthcare provider as soon as possible. Although people with diabetes are at a risk of more serious complications from COVID-19, it is possible to reduce the risk by maintaining ideal blood sugar levels and following infection prevention measures.


Ceriello, A., Stoian, A., & Rizzo, M. (2020, May). COVID-19 and diabetes management: What should be considered? Retrieved September 05, 2020, from

COVID-19 Infection in People with Diabetes. (2020, March 30). Retrieved September 05, 2020, from

Diabetic, pre-diabetic patients and those with high fasting blood sugar at higher risk of fatality due to COVID-19 – Health News , Firstpost. (2020, July 13). Retrieved September 05, 2020, from

Diabetic, pre-diabetic patients and those with high fasting blood sugar at higher risk of fatality due to COVID-19 – Health News , Firstpost. (2020, July 13). Retrieved September 05, 2020, from

Home. (n.d.). Retrieved September 05, 2020, from

N. Zhu, D., J. Hellewell, S., C. Huang, Y., W. Guan, Z., D. Wang, B., J. Yang, Y., . . . M. Shyamsundar, S. (1970, January 01). SARS-CoV-2 disease severity and diabetes: Why the connection and what is to be done? Retrieved September 05, 2020, from
S, K., H, A., & S, A. (2020, May 15).

Multi-Organ Failure in a Patient With Diabetes due to COVID-19 With Clear Lungs. Retrieved September 05, 2020, from

Pratiksha Baliga, Youth Medical Journal 2020

Health and Disease

Alport Syndrome In Women

What is Alport Syndrome?

Alport Syndrome is a genetically inherited kidney disease. It is caused by genetic mutations of the collagen IV family of proteins, which are a major part of basement membranes present in all tissues, including the kidney, inner ear, and eye. Genetic mutations of collagen IV (COL4A5 is situated on the X chromosome, while COL4A3 and COL4A4 are situated on chromosome 2) cause thinning and splitting of the glomerular basement membrane. X-linked Alport Syndrome (XLAS) is caused by mutations in the COL4A5 gene which encodes the collagen IV α5 chain . Autosomal recessive disease is caused by two mutations in trans (on different chromosomes) in the COL4A3 or COL4A4 genes, which are code for the collagen IV α3 and α4 chains, respectively. The collagen IV α3, α4, and α5 chains form a heterotrimer that is the predominant network of the basement membranes of the glomerular filter, the cochlea, cornea, lens capsule, and retina. The collagen IV heterotrimer consists of a long series of Gly-Xaa-Yaa repeats, where Gly is present at each third residue, and X and Y are often hydroxyproline and proline. This process leads to scarring throughout the kidney, and may later lead to kidney failure. It may also cause abnormalities in the ears and eyes, which can lead to vision and hearing loss.


Hematuria – Blood in urine

Abnormal urine color

Proteinuria – Large amounts of protein “spilling” into the urine

Foamy urine

Edema – Swelling in parts of the body, most noticeable around the eyes, hands and feet, and abdomen

Low Blood Albumin Levels

Flank pain

Decreased or loss of vision (more common in males)

Loss of hearing (more common in females)

High Cholesterol in some cases

High Blood Pressure in some cases

Tendency to form Blood Clots if spilling large amounts of protein

Kidney Failure (in only some cases) as the disease progresses


1)CLASSIC Alport Syndrome: X-linked syndrome with haematuria, sensorineural deafness, and conical deformation of the anterior lens surface(lenticonus)

2)X-LINKED FORMED ASSOCIATED with diffuse leiomyomatosis



Autosomal dominant and recessive forms both cause renal disease without deafness or lenticonus.


Many renal physicians think of Alport Syndrome as primarily affecting men. However, twice as many women are also affected by X-linked Alport Syndrome. The women who are affected are commonly undiagnosed. Half of their sons and daughters are also affected. Recessive inheritance is suspected when women develop early-onset renal failure or lenticonus. Their family may be consanguineous. Other generations, including parents and offspring, are not affected, and on average only one in four of their siblings inherit the disease. 

X-LINKED Alport Syndrome(XLAS):

In cases of X-linked inheritance, the genetic defect causing the disease is on the X chromosome. Since men, unlike women, have only one copy of the X chromosome, X-linked Alport Syndrome is more likely to affect men. Women with one faulty copy of the X chromosome can develop the disease, but it is usually less severe in women because their other X chromosome can compensate. Most go undiagnosed or underdiagnosed due to variations in symptom severity and course of disease progression. Between 15 and 30 % of women with XLAS develop kidney failure by the age of 60 and symptoms of hearing loss by their middle ages.


Women have two copies of the X chromosomes, but one of them is randomly turned off or inactivated during development in a process called LYONIZATION. Thus, in each cell, there is only one active X chromosome and one inactive X chromosome. Since lyonization is random in people and varies from cell to cell, the X chromosome that remains active may either be carrying the normal gene or the defective gene. Depending on the proportion of cells in which the normal X chromosome is active, the symptoms can vary from no symptoms at all to those that are quite severe.

Sometimes, X chromosome inactivation can be preferential (also called skewed X-Inactivation) and the normal X chromosome can be unfavored, resulting in most cells expressing the mutated gene. Such women can be as severely affected by XLAS as men.


X-linked Alport Syndrome is underdiagnosed or undiagnosed in women, which is observed in generational skipping. This occurs because female relatives of affected men are not systematically screened in adult nephrology practice.

A male with X-linked disease has inherited the disease from his mother in 85% of cases. On average, half of the male’s affected family include his sisters, brothers, and daughters, but none of his sons.

For females with X-linked disease, the situation is more complex since the disease can be inherited from her father or mother. If a woman inherits the disease from her father, then all of her sisters are also affected, but if she inherits the disease from her mother, then half of her sisters and half her brothers are also affected. In addition, half an affected woman’s sons and half her daughters are affected.

Clinical features of Alport Syndrome in women:

Clinical features in females depend on mutation type and “lyonization.” Lyonization produces a mosaic distribution of the mutant collagen IV α5 chain and disease in the female kidney and skin. This may result in a normal clinical phenotype (a severe or an intermediate), and the staining pattern for diagnostic testing may be confusing.

Hematuria: Nearly all females with X-linked Alport Syndrome have persistent hematuria from infancy. The presence of even short stretches of lamellation suggests Alport Syndrome.

Albuminuria: Albuminuria is not well-studied in women with Alport Syndrome. 

ESRD: 30% of all women with X-linked Alport Syndrome develop ESRD by the age of 60. Affected women should be strongly advised not to donate a kidney to an affected male relative, even when urine protein excretion is normal. This is because of their own risk of ESRD. It is important, though, to confirm genetically if the mother is actually affected because of the small chance (15%) of a de novo mutation in her son.

Autosomal recessive Alport Syndrome: It affects about one in 40,000 individuals, and is suspected in young women with renal failure and hearing loss, or lenticonus. The family may be consanguineous. Typically, the only other affected family member, if any, is a sibling. The affected woman’s parents, grandparents, and children may have hematuria and thin basement membrane nephropathy, but do not develop renal failure.


Women with Alport Syndrome should be identified at an early age once proteinuria appears.

Accurate diagnosis of Alport Syndrome in girls and women can be challenging because many affected females exhibit only microscopic haematuria and glomerular basement membrane attenuation. In such patients, family history and immunohistochemical analysis of type IV collagen expression in basement membranes of the skin or kidney may be helpful. Alport Syndrome should be suspected in women with haematuria and a positive family history of kidney failure. A negative family history for renal failure does not, however, exclude a diagnosis of Alport Syndrome. In some women with longstanding haematuria, a diagnosis of Alport Syndrome is established only after the diagnosis is made in a child. An individualized approach should be taken toward female members of Alport Syndrome whose haematuria is associated with atypical symptoms, such as dysuria or flank pain, or unexpectedly severe abnormalities of renal function, such as heavy proteinuria or azotemia at a young age.

Type IV IHC abnormalities that are distinguishing characteristics in females include-

I) Typical ARAS female-Renal basement membranes are entirely negative for the α3(IV) and α4(IV) chains, and glomerular basement membranes are completely negative for the α5(IV) chain, reflecting the failure to deposit α3α4α5(IV) trimers.

II) Bowman’s capsules, distal tubular basement membranes and EBM are positive for α5(IV) chains, because formation and deposition of α5α5α6(IV) trimers are preserved.


Renal transplantation is usually very successful in women with Alport Syndrome who progress to end-stage renal failure. Even though anti-GBM nephritis of the renal allograft occurs in about 3% of transplanted Alport males, the risk of this complication in females with XLAS should theoretically be close to zero. Women with ARAS, due to certain COL4A3 mutations, can develop anti-GBM nephritis of the allograft.

By Pratiksha Baliga (India), Youth Medical Journal

Reference sites:

“Alport Syndrome.” NephCure Kidney International,

Kashtan, Clifford E. “Alport Syndrome and the X Chromosome: Implications of a Diagnosis of Alport Syndrome in Females.” OUP Academic, Oxford University Press, 29 Mar. 2007,

Naqvi, Erum. “Alport Syndrome in Women.” Alport Syndrome News, Bionews Services, 25 Apr. 2018,

Savige, Judy, et al. “Alport Syndrome in Women and Girls.” Clinical Journal of the American Society of Nephrology : CJASN, American Society of Nephrology, 7 Sept. 2016,