When you hear the word epilepsy, what comes to mind? For many, it����ֱ�� a vague image of someone having a seizure – but there����ֱ�� much more to it.

According to WHO around 50 million people in the whole world suffer from epilepsy which is one of the major neurological disorders. Epilepsy is a chronic condition characterized by episodes of seizures (which may not be easily foreseen) and can occur at any age, in anyone. Though there are various treatments available, many people have a problem controlling the disorder: hence awareness, more research and proper care must be provided. Epilepsy is a neurological condition affecting the brain where nerve cells send irregular signals resulting to seizure. A seizure is a sudden attack that produces losses of muscle control as well as control of perceptions, emotions, and capabilities. Seizure is a little like having a surge across a circuit, where groups of neurons erupt into synchronous firing for a short period of time, disrupting the normal circuits within the brain. These seizures may range from loss of consciousness to only muscle jerking called myoclonus. There are two primary types of seizures: Focal (localized to one part of the brain) and Generalized (involving to both sides of the brain simultaneously).

Causes

• Most of the time a person gets epilepsy, there is no such definite reason of why it happened. While the exact causes of epilepsy can be elusive, some common triggers have been identified:
• Genetics: A family history is included and some people are more susceptible than others due to their gene pool
• Brain injury: Vehicular accidents and sports related severe injuries may develop epilepsy.
• Infections: They include Viral encephalitis, Meningitis and other infection which can inflame and damage neuronal cells and hence cause epilepsy among others Structural causes like tumours, malignancies
• Developmental disorders: There are associations between Autism and Neurodevelopmental disorders and epilepsy or seizure risk. Developmental malformations, cortical dysplasias can result in epilepsy
• Strokes: Seizures can also arise due to stroke

Treatment

The goal of epilepsy management lies in the management of seizures, patient����ֱ�� overall functioning and minimizing side effects. Current options include:

• Medication: Anti-seizure drugs are the first treatment option, and they work for about two-thirds of the patients. They play a huge role in helping to prevent future recurrence of seizures.
• Surgery: If the drugs do not effectively manage the seizures, there are surgicsl options. Epilepsy Surgeries like lobectomy or alternatively vagal nerve stimulation (VNS) can in some cases alleviate or totally eradicate seizures.
• Dietary Therapy: Keto Diet has an evidence basis; it works best for children who have epilepsy and have not responded to any medication. This diet has more of fat and protein and low carbohydrates and can be effective in decreasing the seizures by modifying the metabolism in brains.
• Neurostimulation Devices: New working devices are created in order to affect certain areas of the brain to help minimize the number of seizures. For example: the Responsive Neurostimulation (RNS) where a device is placed within the human brain and sends electrical current to stop the events that cause seizures.

Though the approaches of treatments have been developed, researchers are still looking for a permanent cure. It can be hypothesized that the genetically driven epilepsy could be treated through gene therapy, which is to reverse the recognized mutated genes that cause seizures. Also, research on precision medicine creates the opportunity for the correspondingly targeted therapy basing on patients’ genetic characteristics. Epilepsy still represents a significant concern worldwide and is still surrounded by immense social stigma in the low and middle-income countries where treatment is still insufficient. According to WHO potentially 70% of the people with epilepsy could be free from seizures if adequately managed however only 10% of patients in developing nations get the treatments they require.

Epilepsy affects millions worldwide, and with the right combination of research, resources, and support, there is hope for a future where treatment is accessible to all.

Dr. Sowmya. M, Senior Consultant – Neurology, Aster RV Hospital

The post Understanding the nuances of Meningitis & Cerebral Palsy first appeared on Newspatrolling.com.

Blood tests like a Complete Blood Count (CBC) to detect infection and rule out conditions like dengue, malaria, typhoid, or viral fever

With the arrival of the monsoon, cases of viral fever are increasing due to weather changes, stagnant water, and poor hygiene. Timely treatment is crucial to avoid serious complications, especially in vulnerable age groups

Kolkata: There is a rise in viral fever cases during the monsoon, particularly among people aged 10-65 years. The seasonal shift brings with it high humidity, waterlogging, and a surge in mosquito-borne infections, creating the perfect environment for viral illnesses to spread. Early diagnosis and timely treatment are essential to reduce complications such as dehydration, secondary infections, and a long recovery period. Without proper care, a viral fever can escalate into a more serious condition, especially in children, the elderly, and those having weak immunity.

Viral fever is caused by viral infections. These viruses can spread through air (cough, sneeze), contaminated water, food, or mosquito bites. Common viruses include the flu virus, dengue, chikungunya, and adenovirus. The symptoms are high temperature (often above 100°F), headache and body aches, chills and sweating, fatigue and weakness, sore throat or cough, and poor appetite. If not treated properly, viral fever can lead to dehydration, organ stress, or complications like dengue hemorrhagic fever or pneumonia in some cases.

Dr Abhik Banerjee, Zonal Technical Chief, East Zone Apollo Diagnostic, Kolkata Said, “We are seeing a sharp increase in viral fever cases during this monsoon. Early diagnosis is the key to preventing complications. In most cases, a basic physical check-up, along with blood tests, helps confirm the infection type. Diagnosing viral fever usually starts with a physical examination and reviewing symptoms like fever, body aches, and fatigue. Doctors may recommend blood tests such as a complete blood count (CBC) to check for signs of infection. Dengue NS1, IgM, and Respiratory viral panel tests by PCR can be recommended. Diagnosis help confirm if it����ֱ�� a viral infection and avoid unnecessary use of antibiotics. Early and accurate diagnosis is key to guiding the right treatment.”

Dr Banerjee added, “Identifying the virus early helps in dealing with the symptoms better and avoiding unmonitored usage of antibiotics. Most viral fevers do not need antibiotics. Treatment includes plenty of rest, staying hydrated, and using fever-reducing medicines. Some may need hospitalization in extreme cases. Avoid eating street food or drinking contaminated water, keep your surroundings clean and dry, use mosquito repellents and nets, wash hands regularly, and consult the doctor if the fever persists for over a day. Viral fevers are a common occurrence in monsoon, but with hygiene and timely help, they can be managed safely and effectively.”

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You’re talking to someone and suddenly they fall silent, their face sags, or their speech is slurred. It’s frightening—but it’s what you do after that can save their life.

A stroke occurs when blood flow to the brain is cut off or disrupted. Without oxygen, brain cells start to die within a matter of minutes. Immediate action can become the difference between a full recovery and disability, or even death. Stroke is one of the major causes of death and disability worldwide. However, many people don’t know what to do during those important initial moments. Here are five lifesaving steps you should take if someone close to you is having a stroke.

1. Act FAST to Recognize the Signs –��The simplest way to identify a stroke is to remember FAST:

F – Face: Is one side of the face drooping when smiling?

A – Arms: Is one arm sagging when raised?

S – Speech: Is one����ֱ�� speech slurring or abnormal?

T – Time: Time to call emergency services right away.

Other symptoms can be sudden vision loss, confusion, dizziness, or a bad headache.

2. Call Emergency Services Immediately –��The moment someone notices these symptoms, it is very important to call for an ambulance. Don’t take the person yourself—paramedics can start treatment en route and notify the hospital to have stroke care ready. Early treatment is essential, particularly if clot-dissolving medication is administered within a small window (usually 3–4.5 hours after the attack).
3. Write Down the Time of Symptom Onset –��Doctors will need to know exactly when symptoms started. This determines which treatments are possible. If you don’t know, note the last time the person was seen “normal.” Save the time on your phone or write it down. Every minute counts.
4. Keep the Person Safe and Still –

• Place them on their side if they’re vomiting or unconscious.
• Unbutton and loosen tight clothing.
• Do not give food, water, or medication—swallowing could be compromised, leading to choking.

5. Don’t Assume –��Don’t assume it’s low blood sugar or a seizure. And don’t ever administer NSAID����ֱ�� unless told to by a doctor—it can make the situation worse with a bleeding stroke. Even if the symptoms immediately go away (like in the case of a mini-stroke or TIA), call emergency services. It may be an early warning of a more imminent stroke to come.

Strokes can happen at a moment’s notice, but your reaction does not have to be. Recognizing the symptoms and moving quickly can save a life or spare the person from lifelong disability. Learn the FAST signs and share them with others.

Dr. Balaji B S, Consultant – Neurology & Epileptology, Aster Whitefield Hospital, Bengaluru

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Imagine your lungs are like balloons, helping you breathe in oxygen and release carbon dioxide. Now, imagine if these balloons became stiff and couldn’t expand properly. That����ֱ�� what happens in a condition called Idiopathic Pulmonary Fibrosis (IPF).

What is Idiopathic Pulmonary Fibrosis?

IPF is a serious disease that causes scarring (fibrosis) of the lungs. Over time, this scarring makes the lungs stiff and less efficient at supplying oxygen to the body. The word “idiopathic” means we don’t know exactly what causes it, and “fibrosis” refers to the scarring itself.

Who Gets IPF?

IPF mostly affects people over 50 years old and is slightly more common in men than women. While it����ֱ�� rare in young people, anyone can develop it. The frustrating part about IPF is that doctors often don’t know the exact cause. However, in some cases, it could be linked to:

• Genetics: Mutations in certain genes.
• Environmental factors: Long-term exposure to toxins.
• Injuries to the lung: Repeated small injuries that heal abnormally, causing scarring.

The symptoms of IPF often develop slowly, and people might mistake them for signs of aging or other lung problems:

• Shortness of Breath: Feeling out of breath, even during simple activities like walking or climbing stairs
• Chronic Dry Cough: A persistent cough that doesn’t go away
• Fatigue: Feeling extremely tired, even after resting
• Chest Discomfort: A feeling of tightness in the chest
• Clubbing: The tips of the fingers may become rounder and wider

Is IPF Life-Threatening?

Yes, IPF is a serious and progressive disease. Over time, the scarring worsens, and the lungs struggle to deliver enough oxygen to the body. This can lead to complications like respiratory failure, heart problems, or lung infections. Unfortunately, without treatment, IPF can be life-threatening, with most patients living 3-5 years after diagnosis.

Early diagnosis is key to managing IPF. While it cannot prevent the disease, catching it early allows doctors to:

• Start treatments to slow the progression of lung scarring
• Improve the patient����ֱ�� quality of life through oxygen therapy, exercise, and medications
• Plan for advanced care options like lung transplantation

Unfortunately, there is no permanent cure for IPF. Once scarring occurs in the lungs, it cannot be reversed. However, there are treatments that can slow down the disease, reduce symptoms, and help patients live longer, healthier lives.

How is IPF Treated?

• Medications – Drugs like pirfenidone and nintedanib can slow lung scarring. These are game-changers in IPF treatment and are widely prescribed today.
• Oxygen Therapy – For patients with low oxygen levels, supplemental oxygen can help them breathe easier and feel less tired.
• Pulmonary Rehabilitation – This involves supervised exercise programs and education to improve lung function and overall well-being.
• Lung Transplant – For those with progressive disease in advanced stages, a lung transplant can be a life-saving option.

While IPF is a challenging disease, hope is not lost. Early diagnosis, timely treatment, and lifestyle changes can make a big difference. If you or someone you know has unexplained shortness of breath or a persistent cough, don’t ignore it – visit a doctor. Remember, the sooner you act, the better your chances of managing the disease effectively. Just like a balloon needs to be flexible to work properly, our lungs need to stay healthy to keep us alive and active. Let����ֱ�� not take them for granted!

Dr. Pavan Yadav, Lead Consultant – Interventional Pulmonology & Lung Transplantation, Aster RV Hospital

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The brain is frequently referred to as the human body’s command centre—a delicate, amazing organ that regulates everything from memory and movement, to emotion and creativity.���� When a serious illness, such as a brain tumour, affects this powerful system, it is more than a medical diagnosis.���� It disrupts the very core of who the individual is.

Brain tumours were once regarded as random and unexplained events. However, as medical study advances, we are discovering that the causes of many brain tumours go considerably deeper—right down to our DNA.���� Genetics, formerly reserved for textbooks and labs, is now critical to our knowledge of tumours, our diagnostic capabilities, and to the treatment of brain tumours.

Why should we refer to a Tumour as “Genetic”?

In clarification, not all brain tumours are inherited, or passed down through families.�� The majority are not.�� However, whether hereditary or not, all cancers begin with changes in the genetic composition of our cells.���� Such mutations trigger tiny alterations in our DNA that impede normal cell function and result in uncontrolled growth.

Some mutations are present at birth, while others develop over time, as a result of environmental factors, lifestyle choices, or simply the natural wear and tear of aging.���� In certain people, a combination of these factors creates an ideal environment for a brain tumour to grow.

In essence, genetics is about how our cells adapt and respond over time, as well as about what we inherit.

Why Genetics Matters More Than Ever

Understanding the genetics of a brain tumour is no longer only a scientific interest.It has become one of the most powerful tools in modern neuro-oncology.

When a patient is diagnosed with a brain tumour today, clinicians can consider more than just the size and location. They may look at its genetic fingerprint, which is a blueprint that predicts how the cancer will behave, how aggressive it will be, and which treatments will be most effective.

This shift has revolutionized care.�� What was once a one-size-fits-all approach is being replaced by personalized medicine, which dictates treatment techniques based on the genetic characteristics of each individual tumour.

Inherited risk versus acquired Mutations.

It is crucial to differentiate between hereditary risk and acquired mutations.�� Some people are born with DNA mutations that increase their likelihood of developing tumours; and these mutations could be the result of a well-known genetic disorder. While rare, they cases highlight the significance of increasing awareness, especially in families where brain tumours have appeared multiple times.

Typically, genetic changes occur across a person’s lifetime.���� These are acquired rather than inherited, and can be triggered by a number of biological, lifestyle, and environmental variables.

This means that even people with no family history of brain tumours can develop them, and their tumours may contain genetic changes that affect how they respond to treatment.

The Promise of Precision Medicine

In recent years, the medical profession has adopted a more refined, targeted approach to treating cancers, including those in the brain. Precision medicine is a genetically determined approach.

Analyzing a tumour’s genetic structure enables doctors to predict its growth and spread, target specific mutations, avoid ineffective treatments, and track the tumour throughout.

Major hospitals are already incorporating molecular profiling into their cancer care routines, providing patients with previously unattainable insights.

Looking Ahead: The Future of Brain Tumour Care

Genetics will become more relevant as time passes.���� Every day, new discoveries are being made about the origin of brain tumours, why they resist treatment, and how they can be prevented.���� Gene editing technologies, personalized immunizations, and even drugs that “switch off” harmful genes are also being researched.

For patients, this means new hope.���� It implies that access to better, more tailored treatment is no longer a pipe dream; it has become a reality.However, the future is dependent on perceptiveness.It will bank on asking the right questions, encouraging open communication, and debunking myths about genetic testing.

Brain tumours are among the most challenging medical illnesses to treat, but genetics is helping to change the script.What was once unpredictable and overwhelming, is now something we can understand, manage, and treat more precisely.

By Dr. Chirag Panchal, Consultant- Neuro Onco Surgery, HCG Aastha Cancer Centre, Ahmedabad

The post Is it in our genes? Understanding the Hidden Role of Genetics in Brain Tumours. first appeared on Newspatrolling.com.

~Don’t ignore symptoms like cramping, abdominal pain, bloating, and abnormal bleeding during periods~

Talegaon:��Ovarian cancer is among the most life-threatening cancers in women, ranking fourth in cancer-related deaths globally. Its incidence is steadily rising each year. The disease begins when abnormal cells in the ovaries start multiplying uncontrollably, eventually forming a cancerous tumor that can spread to nearby tissues and organs if not detected early.

Nowadays, many women are experiencing delayed or irregular periods, often due to changing lifestyles and stress. Issues like early menstruation or inconsistent cycles have become increasingly common. However, what many don’t realize is that these symptoms could be early warning signs of uterine cancer. If you’ve been missing your periods for an extended time or notice excessive bleeding, along with pain in the lower back, vaginal area, or nearby regions, it����ֱ�� important not to ignore these signs. Consult an expert and undergo the recommended tests to ensure timely diagnosis and treatment.

Dr Jyoti Mehta, Radiation and Clinical Oncologist at TGH Onco-Life Cancer Center, Talegaon, said, “While ovarian cancer is most commonly seen in women over the age of 50, it can develop at any stage of life. Postmenopausal women are particularly at higher risk. If a woman notices persistent bloating, abdominal pain, or any unusual symptoms lasting more than a few weeks, she should seek medical advice without delay, as early detection significantly improves treatment outcomes and life expectancy. Certain factors like pregnancy, breastfeeding, and the use of hormonal contraceptive pills have been shown to lower the risk of developing ovarian cancer. Treatment typically involves a combination of surgery, chemotherapy, and radiotherapy. Surgery plays a key role in aiming to remove the cancer entirely.

The post Irregular Menses May Be A Cause Of Uterine Cancer first appeared on Newspatrolling.com.

Authored by Dr. Pinaki Mahato, Consultant – Medical Oncology, HCG Cancer Centre, Vadodara

Time & age are two common factors that affect the transformation of our skin. Every individual has certain unique skin features, moles or freckles being the most common ones. Usually, moles appear as birthmarks and do not pose any cause for concern.

Moles, most known as nevi, are small benign, regular looking skin growths caused by a cluster of melanocytes or pigment producing cells. Though unusual, one of the most severe forms of skin cancer, known as melanoma (a type of skin cancer developed from melanin producing cells), can look like a mole.

If diagnosed in time, skin cancer can be treated successfully. However, one must possess a basic understanding of the kinds of skin cancer, the risks, and preventive measures to maintain overall well-being.

Some typical characteristics include:

Larger size

Irregular or blurry borders

Varied colours (brown, black, red, pink, or tan)

Asymmetry

Raised or flat texture

In case you notice any of the above irregularities, consult a dermatologist promptly.

The main kinds of skin cancer include:

Actinic Keratosis: A precancerous condition caused by sun exposure. It can develop into squamous cell carcinoma if untreated.

Basal Cell Carcinoma (BCC): The most common and least aggressive form, often found on sun-exposed areas like the face and neck.

Squamous Cell Carcinoma (SCC): Can spread if untreated. Often appears as rough, scaly patches or open sores.

Melanoma: Can appear anywhere in the body, even unexposed areas like under the nail beds, toes, or on the scalp.

The Standard ABCDE Rule – How to Self-Examine?

A – Asymmetry: Unidentical sides

B – Border: Irregular edges

C – Colour: Uneven colour or multiple shades

D – Diameter: Larger than 6mm

E – Evolving: In terms of size, shape, colour, etc

Routine self-exams are essential to determine any unusual growths as well as get a better understanding of the risks involved.

Treatment Options

Though the treatment options often vary basis the size, type and stage of skin cancer:

· Surgically removing the moles is a common practice for most skin cancers

Mohs surgery offers precision removal for sensitive areas like the face

Topical or OTC medications might help in treating actinic keratosis or superficial Basal Cell Carcinoma

In cases where surgery isn’t viable, Radiation therapy might be suggested

For advanced cases of melanoma, Immunotherapy or targeted therapy is often utilised

For cases that do not respond to any of the above treatment, Chemotherapy might be monitored as a last resort

A Few Helpful Tips

For people with many moles, or a history of skin cancer, one must:

Perform monthly self-checks

Schedule annual full-body skin exams with a dermatologist

Consider total-body mole mapping or mole photography

Avoid tanning beds

Daily usage of sun protection

Due awareness about the symptoms and risks

Looking Ahead

Skin growths are often not something to worry about; however, in case of any abnormalities might warrant expert intervention. Due awareness, and regular check-ups may help individuals understand their body better. In case of any inconsistencies, consulting a dermatologist, and asking the right questions, might help protect your skin from the risk of cancer.

The post Can Moles Increase Your Risk of Developing Skin Cancer? first appeared on Newspatrolling.com.

Boycotting palm oil won’t solve India����ֱ�� health problems or serve its interests

Hon’ble Prime Minister Narendra Modiji����ֱ�� clarion call to curb obesity has reignited discussions on responsible consumption and healthy eating habits. He urged Indians to cut down edible oil consumption by 10%, citing the country����ֱ�� rising obesity rates. This reduction is crucial since the average Indian consumes��19.7 kg of edible oil per year, exceeding the recommended��12 kg/annum��advised by ICMR and health experts. This overconsumption contributes to obesity across the country, including children. A key driver of this unhealthy trend is the increasing consumption of ultra-processed foods (UPFs).

A 2023��WHO report��highlights that India����ֱ�� UPF market surged from $900 million in 2006 to $37.9 billion in 2019. The��Economic Survey FY25��also noted this, calling for stricter regulation of misleading nutrition claims, setting limits on salt and sugar, and enforcing compliance among UPF brands. UPFs, high in refined sugars, sodium, artificial additives, and unhealthy fats, pose serious health risks. While excessive consumption of these ingredients contributes to various cardiovascular diseases, fats often receive the most criticism. However, the real issue is overall consumption patterns, a point emphasised by both Hon’ble Prime Minister Modiji and renowned cardiologist��Dr. Devi Prasad Shetty.

Dr. Shetty, Chairman and MD of Narayana Health, advocates for a balanced diet with limited carbohydrates and emphasises preventive health measures such as regular walking, maintaining good posture, practicing yoga, quitting smoking, and tracking one����ֱ�� health. Monitoring weight, heart health, and metabolism is especially important for individuals over 40 years of age.

Going Palm Oil Free Is Not the Solution

Boycotting palm oil is not a viable solution for the masses, the government or FMCG companies. Switching to alternate oils like sunflower or soyabean could lead to even more deforestation and pose an even greater threat to biodiversity. One ton of palm oil can be produced on as little as one-eighth of the land needed for soybean, sunflower, and rapeseed oils. Given that global demand for oil is expected to rise, replacing oil palm with other crops may worsen economic and environmental challenges rather than solving them.

Known for its unique properties, palm oil is favoured by companies due to its versatility and high efficiency. Misinformation and limited awareness about palm oil����ֱ�� nutritional profile have led to scepticism, often overshadowing its health, economic, and strategic importance. In fact, when consumed as part of a balanced diet, palm oil����ֱ�� balanced fatty acid composition��can help maintain healthy cholesterol levels.

By Dr Anupam Barik, Former Additional Commissioner (Oilseeds), Department of Agriculture & Farmers Welfare, Government of India

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A routine evening took a serious turn for a young couple in their 20s when their three-month-old baby was noticed to have mild abdominal distension and persistent crying—initially assumed to be a case of infantile colic. However, upon further evaluation, the child was diagnosed with Thalassemia Major, a severe inherited blood disorder that requires lifelong monthly blood transfusions to sustain life.

The family was informed that although the time commitment involved in transfusions may seem limited—approximately four hours once a month—the implications of the disease are far-reaching. Terms such as genetic disorder, lifelong transfusions, and iron chelation therapy were introduced, leaving the parents overwhelmed. When the father inquired about a permanent solution, bone marrow transplantation was presented as the only potential cure—albeit one associated with complex procedures, significant costs, and a prolonged recovery timeline.

World Thalassemia Day, observed annually on May 8, is marked to raise awareness about this chronic hematological condition and to express solidarity with patients and families affected by it. In Thalassemia Major, the production of healthy hemoglobin is impaired, resulting in severe anemia. Without regular treatment, life-threatening complications are inevitable. Thousands of children in India are diagnosed with this condition each year, making early detection and consistent management essential.

It is often asked by parents whether any action of theirs contributed to the diagnosis. It must be emphasized that no fault lies with the parents, as Thalassemia is a genetic disorder inherited through carrier status from both parents. Unfortunately, due to low awareness and insufficient screening, the diagnosis is frequently made only after symptoms develop.

In such cases, pediatric hematologists play a critical role. Comprehensive counselling is provided, followed by the formulation of a tailored treatment plan based on clinical guidelines. While blood transfusion forms the cornerstone of initial management, the introduction of iron chelation therapy is vital to prevent secondary complications such as cardiac failure, liver dysfunction, and delayed growth. The long-term objective remains to facilitate a healthy transition into adolescence and adulthood.

It must be stressed that, with optimal management, children with Thalassemia can experience a normal and fulfilling childhood. Regular monitoring, adherence to medical protocols, and a supportive environment are essential components of this process.

This year����ֱ�� theme, “Uniting Communities,” serves as a reminder that comprehensive care must extend beyond hospitals. The role of communities, support groups, educational institutions, and policymakers is critical in ensuring that patients have access to safe and affordable transfusions, psychosocial support, and inclusive opportunities. Awareness and early screening, particularly premarital and antenatal, should be promoted as essential public health measures to prevent the birth of affected children.

On this World Thalassemia Day, a renewed call is being made for collaborative action—so that no family is left to navigate this journey alone and every child with Thalassemia is empowered to lead a life free of limitations.

by Dr Nadipalli Sravani, Consultant Oncologist and Haematologist, Ankura Hospital for Women and Children

The post The Silent Struggle and Strength Behind Thalassemia����ֱ�� Smallest Warriors” first appeared on Newspatrolling.com.

��

(Ms Anusree Singapur, MSc Genetic Counseling; Genetic Counselor, Milann Fertility and Birthing Hospital, Bengaluru)

A triple chromosome 21 causes the genetic disorder known as Down syndrome.�� With several health ramifications, this additional genetic material influences both cognitive and physical development.�� Couples with a history of genetic conditions or fertility challenges may face increased risks. However, Assisted Reproductive Technology (ART) can be a boon in supporting them on their journey to parenthood.

Understanding why Down Syndrome and Its Genetic Causes

Down syndrome occurs in approximately��1 in 700 births��in India. The difficulties in development arises from an extra copy of chromosome 21.�� Well, the effects vary from person to person. Some may suffer from moderate learning disabilities, while others may suffer from severe health conditions like digestive or cardiac disorders. Whereas, common traits include unique facial features, small stature, and children’s delayed growth.�� People with learning difficulties struggles in different ways such as with language and memory.

Reasons behind the occurrence of this, include:-

1. the random (de novo) error during egg or sperm formation or occasionally during the early stages of embryo development after fertilization,
2. advanced maternal age, which increases the risk of non-disjunction that is failure of chromosomes to separate properly,
3. inheriting from the parent who is a balanced chromosomal translocation carrier,

4. A rare case, where, the child inherits from a parent who is already affected by Down syndrome.

When a parent carries a balanced translocation involving chromosome 21, there’s a risk of passing on an unbalanced form to the child, resulting in Translocation Down syndrome. In these families, the recurrence risk is significantly higher than in the general population, and requires careful reproductive planning.

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Balanced Translocation Carriers: Impact on Fertility and Pregnancy Outcomes

A��balanced translocation��involves the rearrangement of genetic material without any loss or gain. While carriers usually do not have any health issues themselves, their reproductive outcomes can be significantly affected. They are at increased risk for:

• Infertility or repeated IVF failures
• Recurrent pregnancy loss (RPL)
• Having a child with an unbalanced chromosomal condition, such as Down syndrome

Natural conception in such cases often leads to embryos with unbalanced genetic material, leading to implantation failure, miscarriages, or birth defects.

How ART Helps: Pre-implantation Genetic Testing

Modern ART techniques, especially��in vitro fertilization (IVF)��combined with��Preimplantation Genetic Testing (PGT), have been revolutionary for such couples. PGT allows for the selection of chromosomally normal or balanced embryos��before implantation:

• PGT-SR(for structural rearrangements) helps detect unbalanced translocations
• PGT-A(for aneuploidy) screens for extra or missing chromosomes, including Trisomy 21

This greatly improves the chances of a healthy pregnancy and minimizes the emotional burden of repeated miscarriages.

Who Can Benefit from ART + PGT?

Couples who may benefit include: carriers of balanced chromosomal translocations, couples with recurrent pregnancy loss or IVF failures, those with a family history of chromosomal disorders, and women of advanced maternal age (35+) at higher risk for Trisomies.

��

Prenatal Screening & Diagnosis

During the pregnancy phase, the women should consult a doctor and on recommendations only they should undergo any screening or diagnosis.

Hence, down syndrome can arise from a variety of genetic mechanisms—including random events, advanced maternal age, or inherited chromosomal rearrangements. With proper��genetic counseling,��ART, and��PGT, couples at risk can take proactive steps to ensure healthy pregnancies. Personalized reproductive care guided by genetics is key to supporting these families on their parenthood journey.

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