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Medical Conditions

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Gilbert syndrome medical condition

Gilbert syndrome

Gilbert syndrome is a common, harmless genetic liver condition in which the liver does not process bilirubin efficiently. Bilirubin is a yellow pigment formed when red blood cells break down. Because the liver enzyme responsible for clearing bilirubin works less effectively, bilirubin levels can rise slightly in the blood. Gilbert syndrome is inherited and usually discovered by chance during routine blood tests. It does not require treatment and does not cause liver damage or serious health problems. Symptoms Most people have no symptoms. When symptoms occur, the most common is: Mild jaundice (yellowing of the skin or whites of the eyes) Bilirubin levels — and jaundice — may increase during: Illness (cold, flu) Fasting or very low-calorie diets Dehydration Menstruation Strenuous exercise Stress Causes Gilbert syndrome is caused by an inherited change in a gene that controls an enzyme needed to break down bilirubin in the liver. Because less of this enzyme is produced, bilirubin is cleared more slowly and builds up slightly in the blood. To develop Gilbert syndrome, a person usually inherits two altered copies of the gene (one from each parent). Risk factors Both parents carry the altered gene Male sex Puberty or later life (when bilirubin production increases) Complications Gilbert syndrome is benign, but it can: Increase side effects from certain medications, especially: Irinotecan (chemotherapy) Some HIV protease inhibitors Slightly increase the risk of gallstones if other blood cell disorders are present Always inform your healthcare provider if you have Gilbert syndrome before starting new medications. When to see a doctor See a healthcare professional if you notice persistent or unexplained jaundice, as jaundice has many possible causes. Key takeaway Gilbert syndrome is not a disease, does not shorten life expectancy, and usually has no impact on daily life. It simply means your body handles bilirubin a little differently.

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Chronic Myelogenous Leukemia (CML) medical condition

Chronic Myelogenous Leukemia (CML)

The bone marrow plays a critical role in the body’s ability to defend itself by producing blood cells. In healthy individuals, the bone marrow generates stem cells, which mature into: White blood cells (fight infection) Red blood cells (carry oxygen) Platelets (help blood clot) Leukemia develops when abnormalities occur in these stem cells, leading to uncontrolled production of abnormal white blood cells that circulate in the bloodstream and interfere with normal blood cell formation. What Is Chronic Myeloid Leukemia? Chronic myeloid leukemia (CML)—also called chronic granulocytic leukemia or chronic myelogenous leukemia—is a rare cancer of the bone marrow that primarily affects myeloid white blood cells. CML can occur at almost any age, but it is most commonly diagnosed in middle-aged and older adults. In CML, the bone marrow produces excessive numbers of immature myeloid cells, known as blasts, which crowd out healthy blood cells and disrupt normal blood function. Myeloid cells include: Granulocytes Monocytes Macrophages Dendritic cells When produced in abnormal quantities, these cells can lead to the development of CML. Phases of Chronic Myeloid Leukemia The term “chronic” refers to the disease’s typically slow progression. However, CML can advance into a more aggressive leukemia if not adequately controlled. CML is divided into three phases: 1. Chronic Phase Most patients are diagnosed during this phase Often discovered during routine blood tests Few or no symptoms Usually well controlled with medication 2. Accelerated Phase Increased number of immature blood cells Worsening symptoms Enlarged spleen Low red blood cell count Abnormal white blood cell levels May occur due to drug resistance 3. Blast Phase (Blast Crisis) Large numbers of immature blast cells Symptoms resemble acute leukemia High risk of infection, bleeding, and shortness of breath Can transform into acute myeloid leukemia (AML) Requires immediate medical treatment Relapsed CML Some patients may experience relapse, even after achieving remission. This can occur when leukemia cells develop resistance, often due to mutations in the BCR-ABL1 gene. Treatment for relapsed CML focuses on returning the disease to the chronic phase, most commonly using targeted therapy with tyrosine kinase inhibitors (TKIs). Causes of CML CML is caused by a genetic mutation in bone marrow stem cells. The hallmark of the disease is the Philadelphia chromosome. The Philadelphia Chromosome Results from a reciprocal translocation between chromosome 9 and chromosome 22 Produces an abnormal gene called BCR-ABL BCR-ABL creates a protein called tyrosine kinase This protein causes uncontrolled growth of abnormal white blood cells The Philadelphia chromosome develops after birth and is not inherited. Risk Factors for CML Risk factors increase the likelihood of developing cancer but do not guarantee it. Known risk factors include: Age: Average age at diagnosis is around 64 Radiation exposure: Seen in survivors of atomic bomb exposure and certain radiation-treated conditions Gender: More common in men Philadelphia chromosome: Present in nearly all CML cases CML is extremely rare in children and adolescents. Symptoms of CML CML can take years to develop and is often asymptomatic in early stages. When symptoms occur, they may include: Fatigue and weakness Shortness of breath during routine activity Pale or dull skin Fullness or discomfort in the left upper abdomen (enlarged spleen) Night sweats Fever Unintentional weight loss Bone pain Loss of appetite Easy bleeding or bruising Potential Complications Complications of CML may include: Anemia due to low red blood cell production Enlarged spleen Increased risk of secondary cancers, including thyroid, lung, stomach, prostate, and small bowel cancers Diagnosing Chronic Myeloid Leukemia Many patients are diagnosed incidentally after abnormal blood test results. Diagnosis involves specialized blood and bone marrow testing, analyzed by hematopathology experts. Diagnostic tests include: Complete blood count (CBC) with differential Peripheral blood smear Bone marrow aspiration and biopsy Cytogenetic analysis to detect the Philadelphia chromosome Fluorescence in situ hybridization (FISH) Quantitative polymerase chain reaction (qPCR) to measure BCR-ABL1 gene levels qPCR is the most sensitive test and is also used to monitor treatment response. Treatment Options for CML Treatment depends on disease phase, genetic findings, and overall health. Common treatment options include: Targeted therapy (Tyrosine Kinase Inhibitors) Blocks the BCR-ABL protein driving leukemia growth Chemotherapy Slows or stops leukemia cell division Radiation therapy Used in specific situations, such as spleen enlargement Bone marrow (stem cell) transplant Considered when drug therapy is unsuccessful CAR-T cell therapy Primarily used for other leukemias (e.g., ALL), but part of advanced immunotherapy programs Comprehensive Care and Quality of Life At Sheba, treatment extends beyond medication. Patients receive multidisciplinary support from: Hematologists and oncologists Nurses and transplant specialists Social workers and psychologists Nutritionists and supportive care teams The goal is not only to treat the disease but to preserve quality of life, emotional well-being, and long-term health. Living with Chronic Myeloid Leukemia CML is often a long-term condition. Even with a good prognosis, living with a chronic cancer can be emotionally challenging. Some patients require lifelong monitoring and treatment, which can complicate future planning. You do not have to face CML alone. With expert care, modern targeted therapies, and strong support systems, many people with CML lead long, productive, and fulfilling lives.

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Cerebellar stroke medical condition

Cerebellar stroke

What Is a Cerebellar Stroke? A cerebellar stroke occurs when the blood supply to the cerebellum is interrupted. The cerebellum is the part of the brain responsible for balance, coordination, posture, and fine motor control. This interruption can happen due to: A blocked blood vessel (ischaemic stroke), or Bleeding within the brain (haemorrhagic stroke) The cerebellum is located at the back of the brain, beneath the cerebrum and above the brainstem. Although it is relatively small, damage to this area can cause severe disability and may be life-threatening if not treated urgently. Types of Cerebellar Stroke Ischaemic Cerebellar Stroke This occurs when an artery supplying the cerebellum becomes blocked. Thrombotic stroke – a clot forms directly in a cerebellar artery Embolic stroke – a clot forms elsewhere (often the heart) and travels to the cerebellum This is the most common type of cerebellar stroke. Haemorrhagic Cerebellar Stroke This occurs when a blood vessel in the cerebellum ruptures, causing bleeding. Common causes include: Long-standing high blood pressure Brain aneurysms Arteriovenous malformations (AVMs) Symptoms of a Cerebellar Stroke Symptoms may appear suddenly and often differ from typical “face-arm-speech” stroke symptoms. Common symptoms include: Sudden dizziness or severe vertigo Loss of balance and coordination Nausea and vomiting Severe headache, especially at the back of the head Unsteady walking or inability to stand Slurred speech Double vision or abnormal eye movements (nystagmus) Weakness or numbness, often on one side of the body ⚠️ Cerebellar strokes are sometimes misdiagnosed as inner-ear problems. Persistent or worsening symptoms require immediate medical attention. When to Seek Emergency Medical Attention (FAST) Call emergency services immediately if you notice: Face drooping Arm weakness Speech difficulty Time to call emergency services Even if symptoms improve, a transient ischaemic attack (TIA) can be a warning sign of an imminent stroke. Causes of a Cerebellar Stroke Several conditions increase the risk: Atherosclerosis – plaque build-up narrowing arteries Blood clots – often from heart conditions like atrial fibrillation High blood pressure Brain aneurysms or AVMs Heart disease Smoking Vessel dissection – tearing of arteries supplying the cerebellum, sometimes caused by trauma or aggressive neck manipulation Complications of a Cerebellar Stroke Cerebellar strokes carry a high risk of complications, including: Brain swelling, which can cause brain herniation and death Hydrocephalus (build-up of cerebrospinal fluid), often requiring surgery Persistent vertigo and imbalance Speech and swallowing difficulties, increasing the risk of aspiration pneumonia Cognitive impairment, especially if other brain regions are affected Because of swelling risk, cerebellar strokes often require intensive monitoring or neurosurgical care. How Can a Cerebellar Stroke Be Prevented? Prevention focuses on reducing vascular risk factors: Control high blood pressure Eat a heart-healthy diet Engage in regular physical activity Stop smoking Limit alcohol consumption Manage diabetes and heart conditions Attend routine health screenings Avoid excessive or forceful neck manipulation

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