Health
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Prader-Willi Syndrome: Understanding This Complex Genetic Disorder
Imagine a disorder that affects how your body grows, how hungry you feel, and how you develop mentally and physically.…
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Alpha-1 Antitrypsin Deficiency: The Lung and Liver Disease You May Have Never Heard Of
Imagine your lungs as tiny air sacs that help you breathe. Your body produces a special protein called alpha-1 antitrypsin…
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From medieval plague ships to hantavirus: How outbreaks at sea helped to shape the international public health system
Cruise ships are convenient floating hotels by which to see far-flung parts of the world – but as an epidemiologist,…
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Supreme Court preserves access to mifepristone via telehealth – at least for now
The U.S. Supreme Court has decided that patients can continue to get mifepristone, one of the two drugs used for…
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Hemochromatosis: The Iron Overload Disease Most People Don’t Know They Have
Imagine a 50-year-old man experiencing progressive fatigue. Exhaustion. Months. Years. Attributed stress work. Lifestyle adjustment. Productivity. Reduced. Joint pain. Hands.…
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Wilson’s Disease: When Copper Accumulates and Poisons the Body
Imagine a 22-year-old man presenting with progressive personality changes. Irritability. Mood swings. Behavioral. Inappropriate. Impulsive. Violent outbursts. Unusual. Family concerned.…
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Niemann-Pick Disease: What Happens When Lipid Metabolism Fails
Imagine a 3-year-old girl noticing developmental delays. Speech. Motor. Walking. Delayed. Learning. Slower. Playfulness. Diminished. Clumsiness. Increasing. Falling. Coordination poor.…
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Gaucher Disease: The Most Common Lysosomal Storage Disorder Explained
Imagine a 32-year-old man experiencing progressive abdominal swelling. Distension. Fullness. Months. Enlargement. Visible. Weight gain. Unintentional. Unexplained. Fatigue develops. Malaise.…
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Fabry Disease: The Lysosomal Storage Disorder Misdiagnosed for Decades
Imagine a 28-year-old man experiencing episodic pain extremities. Fingers toes. Pain burning. Severe. Excruciating. Episodes triggered. Heat. Exertion. Fever. Emotional…
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Systemic Mastocytosis: When Mast Cells Accumulate in Places They Shouldn’t
Imagine a 42-year-old woman experiencing episodic flushing. Facial redness. Sudden. Unpredictable. Flushing lasting minutes hours. Associated symptoms. Pruritus itching intense.…
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Ehlers-Danlos Syndrome: The Hypermobility Condition That’s Frequently Missed
Imagine a 28-year-old woman experiencing joint pain widespread. Knees. Hips. Shoulders. Wrists. Ankles. Pain progressive. Months. Years. Intermittent. Episodic. Exacerbations.…
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Marfan Syndrome: The Connective Tissue Disorder Hidden in Tall, Thin Bodies
Imagine a 16-year-old girl exceptionally tall. Height 6 feet 2 inches. Lanky. Thin build. Long limbs. Disproportionate. Long fingers arachnodactyly.…
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Amyotrophic Lateral Sclerosis (ALS): What Happens to the Body — and What Doesn’t
Imagine a 58-year-old man noticing weakness in his right hand. Grip strength. Reduced. Difficulty holding pen. Writing illegible. Tripping occasionally.…
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Huntington’s Disease: Genetic, Progressive, and Still Without a Cure
Imagine a 45-year-old man whose adult children notice personality changes. Irritability. Mood swings. Uncharacteristic behavior. He acknowledges stress. Work pressures.…
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Primary Peritoneal Cancer: What It Is and How It Relates to Ovarian Cancer
Imagine a 60-year-old woman experiencing progressive abdominal distension. Bloating. Persistent. Weeks. Months. She attributes dietary factors. Constipation. Ignores. Abdominal discomfort…
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