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A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.

The treatment with valproate, acetylcarnitine, folic acid, and vitamin B12 may improve muscle strength in children with SMA without significant side effects.

Satoyoshi Syndrome is hard to diagnose and treat due to its rarity and complex symptoms.

Equine eosinophilic granuloma is the most common skin disease in horses, while mast cell tumors are less common and differ in their cellular makeup.

A 38-year-old man was diagnosed late with Kearns-Sayre syndrome after being wrongly treated for epilepsy.

Eosinophilia-myalgia syndrome, linked to contaminated L-tryptophan supplements, caused severe symptoms and some deaths, with long-term effects in survivors.

A woman had meningitis caused by mixed connective tissue disease, not an infection.

New mutations in the DSG4 gene cause a rare hair condition.

New genetic variants linked to inherited ichthyoses were identified, offering insights for potential gene therapy.

Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.

A woman with lupus and severe nerve damage improved with specific treatments.

The cat's skin condition was resistant to treatment and did not improve.

Some skin problems can be signs of diabetes or other metabolic diseases and recognizing them can help diagnose and treat these diseases early.

Effective pain management in multiple sclerosis requires individualized treatment strategies.

Certain types of mucopolysaccharidoses cause significant hair abnormalities.

Immunological treatment improved both neuropathy and alopecia.

Panniculitis in dermatomyositis is rare, more common in women, and may persist despite treatment.

Skin issues are common in people with neurodegenerative diseases.

Ichthyoses are genetic skin disorders that affect the skin's barrier function.

Most patients with cutaneous dermatomyositis either improved or remained stable over 3.5 years.

Thymoma-associated multiorgan autoimmunity can cause liver damage and affects multiple organs, with limited treatment options and a generally poor prognosis.

Azathioprine can help with relapses and disability in NMOSD but has more side effects and needs more research.

Steroid treatment greatly improved the symptoms of a boy with a rare disorder called Satoyoshi syndrome.

The girl's symptoms suggest a complex condition that's hard to diagnose despite normal test results.

A girl with hereditary chorea, likely Huntington's disease, had her condition worsened by lupus.

A cat with a rare pancreatic tumor and diabetes died despite treatment, showing similar symptoms to a human condition.

Keratin mutations cause skin diseases and could lead to new treatments.

Mutations in mitochondrial DNA might significantly contribute to the development of Polycystic Ovarian Syndrome.

Keratin gene mutations cause various skin and hair disorders, but new research offers hope for future treatments.

Pilomatricomas are often linked to genetic syndromes, especially Apert syndrome, and genetic analysis is crucial for diagnosis.