research Successful plasmapheresis and immunoglobulin treatment for severe lipid storage myopathy: Doing the right thing for the wrong reason
Correct diagnosis and treatment are crucial for effective management of lipid storage myopathies.
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270-300 / 1000+ resultsresearch Clinical Quiz
The toddler's health issues were caused by too much vitamin A from supplements.
research Giant Axonal Degeneration: Scanning Electron Microscopic and Biochemical Study of Scalp Hair
The patient's hair had unique damage and a lower sulfur-to-nitrogen ratio compared to relatives, but not compared to healthy controls.
research Cronkhite-Canada syndrome: Report of an unusual case
The report described a unique case of Cronkhite-Canada syndrome with unusual polyps and an association with multiple myeloma.
research The neurosteroid environment in the hippocampus exerts bi-directional effects on seizure susceptibility in mice
Neurosteroids in the brain can increase or decrease seizure risk in mice.
research Hypomyelinating leukodystrophy-10 presenting with an additional atypical feature of increased body hair and Mongolian spots
HLD10 can include increased body hair and Mongolian spots.
research Serine palmitoyltransferase and peripheral neuropathy: studies on neuropathy-causing mutations and their biochemical hallmarks
Dietary L-serine supplementation can reduce symptoms of HSAN1 by lowering harmful 1-deoxySL levels.
research Parry–Romberg Syndrome: Radioclinical Dissociation in a Paucisymptomatic Form and a Proposed Diagnostic Framework
Parry–Romberg Syndrome can involve the brain even without obvious symptoms, and a new diagnostic framework is suggested for early detection.
research BroadAMP-GPT: AI-Driven generation of broad-spectrum antimicrobial peptides for combating multidrug-resistant ESKAPE pathogens
BroadAMP-GPT effectively creates antimicrobial peptides to fight drug-resistant bacteria.
research Hypervitaminosis A
Too much vitamin A can cause serious health problems.
research Case of Waldenstrom Macroglobulinaemia Mimicking Multiple Myeloma: A Diagnostic Challenge
Waldenstrom’s Macroglobulinaemia can mimic multiple myeloma, so accurate diagnosis is crucial.
research ALZHEIMER DISEASE: WHAT’S NEW, WHAT’S TRUE?
Alzheimer's may be treated by targeting gut bacteria and inflammation.
research Palmitoylethanolamide Stimulation Induces Allopregnanolone Synthesis in C6 Cells and Primary Astrocytes: Involvement of Peroxisome-Proliferator Activated Receptor-α
PEA boosts allopregnanolone production and reduces oxidative stress in brain cells.
research HIV infection mimicking autoimmune disorder
A girl with symptoms like an autoimmune disorder actually had HIV and a fungal infection, which was hard to diagnose and treat, leading to her death.
research Herpes Zoster Precipitating First Attack of Neuromyelitis Optica along with Perinuclear Anti-Neutrophilic Cytoplasmic Antibody Positive Vasculitis
A woman's shingles infection triggered her first episode of a rare neurological disorder and blood vessel inflammation.
research Novel recombinant human acid α-glucosidase with optimal glycosylation is significantly better than standard of care enzyme replacement for glycogen clearance in skeletal muscles of GAA knock-out mice
research Pityriasis amiantacea associated with Staphylococcus aureus super-infection in bedouin patients
Pityriasis amiantacea is linked to Staphylococcus aureus infection and can be effectively treated with antibiotics, corticosteroids, and coal tar.
research Anagen effluvium due to thallium poisoning derived from the intake of Chinese herbal medicine and rodenticide containing thallium salts
A woman and her daughter had thallium poisoning from a herbal drink and rodenticide, causing hair loss and other symptoms.
research Chicken scratches.
Biotinidase deficiency can be easily diagnosed and treated with biotin to prevent serious harm.
research Pityriasis amiantacea following bone marrow transplant.
A woman developed a hair disorder after a bone marrow transplant, which improved with treatment.
research EFFECT OF "AMINOPTERIN" ON EPITHELIAL TISSUES
Aminopterin strongly suppresses epithelial tissues and can treat certain skin conditions but has significant side effects.
research Systemic effects of Leucaena leucocephala ingestion on ringtailed lemurs (Lemur catta) at Berenty Reserve, Madagascar
Ingesting Leucaena leucocephala caused hair loss and increased infant mortality in ringtailed lemurs.
research Biotinidase deficiency – clinching the diagnosis rapidly can make all the difference!
Quick diagnosis and biotin treatment can dramatically improve biotinidase deficiency symptoms.
research Exome-wide age-of-onset analysis reveals exonic variants in ERN1, TACR3 and SPPL2C associated with Alzheimer’s disease
Certain genetic variants in ERN1, TACR3, and SPPL2C are linked to when Alzheimer's disease starts.
research Case 4-2012
Early diagnosis and treatment of TPP can prevent complications.
research Chronische Thalliumintoxikation: Beobachtung einer kriminellen Vergiftung
A man was poisoned with thallium, treated successfully, but still had some nerve issues after 6 months.
research Microscopic polyangiitis secondary to Mycobacterium abscessus in a patient with bronchiectasis: a case report
A 70-year-old woman with bronchiectasis developed a rare immune disease due to a bacterial infection, requiring a difficult balance of treatments.
research Neuroimaging Findings in Congenital Biotinidase Deficiency: A Case Report
Early biotin treatment can reverse symptoms of congenital biotinidase deficiency.
research Genotype-Phenotype Delineation of Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy in a Pediatric Patient: A Case Report
A new AIRE gene mutation causes rare autoimmune symptoms in a Lebanese boy.
research 12361 An Unusual Case of Myxedema Coma
Acute illnesses like sepsis can disrupt thyroid hormone balance without central hypothyroidism.