research A Rare Presentation of Biotinidase Deficiency Mimicking Acrodermatitis Enteropathica in a Toddler
Biotinidase deficiency can mimic other conditions, making early diagnosis and treatment crucial to prevent lasting issues.
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900-930 / 1000+ results research Trichorrhexis Invaginata and Netherton’s Syndrome
Recognizing bamboo hair helps diagnose Netherton’s syndrome.
research Obesity, polycystic ovarian syndrome and thyroid dysfunction in women with epilepsy
Women with epilepsy on certain medications might gain weight and have higher thyroid-stimulating hormone levels, but not more polycystic ovarian syndrome.
research Neurochemical and Immunocytochemical Studies of Catecholamine System in the Brindled Mouse
Brindled mice show abnormal catecholamine neuron development due to copper deficiency.
research PRIDE syndrome associated with panitumumab treatment – case report and literature review
A man's severe skin reaction from cancer treatment improved with early diagnosis and proper medication.
research PA15 Becker naevus syndrome associated with a mosaic pathogenic variant in ACTB
A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.
research Психоэмоциональные состояния у больных нерубцующими алопециями (гнездной, андрогенетической)
Patients with non-scarring hair loss often have emotional disorders.
research Papilledema and Hypervitaminosis A
Excessive vitamin A can cause symptoms that mimic serious brain conditions.
research Clinical and histological study of permanent alopecia after bone marrow transplantation
Permanent hair loss after bone marrow transplant can be caused by chemotherapy or chronic graft-versus-host disease.
research TRAPPED IN THE HYPOGLYCEMIA LOOP
Early advanced therapies are crucial for better survival in aggressive insulinoma cases.
research Case Report: Loss of Pubic and Axillary Hair Following Treatment with Glucocorticoids
Glucocorticoids can cause long-term loss of body hair by lowering adrenal androgens.
research Reduced serum brain-derived neurotrophic factor in patients with first onset vitiligo
People with first-time vitiligo have lower levels of a certain brain protein compared to healthy individuals.
research Case 5: A Very Tall 7-year-old Boy with Medulloblastoma
A 7-year-old boy with a brain tumor developed early puberty, which was successfully treated with medication.
research Ocular aspects in biotinidase deficiency Clinical and genetic original studies
Early diagnosis and treatment of biotinidase deficiency are crucial to prevent vision problems.
research Becker’s Nevus Syndrome in a Pediatric Female Patient
A girl with Becker's nevus syndrome showed good improvement in breast development using spironolactone.
research Lesions in the skin, intestine, and central nervous system induced by an antimetabolite of niacin.
Injecting newborn mice with a niacin blocker caused skin, gut, and brain damage similar to human pellagra.
research Refractory/relapse thrombocytopenia in a patient with Evans' syndrome successfully treated with zanubrutinib
A girl with Evans' syndrome had her low platelet count successfully treated with zanubrutinib.
research Visual Vignette
A 13-year-old boy with Cushing syndrome has high cortisol levels from a pituitary gland issue and underdeveloped sexual characteristics.
research Tricorrexis nodosa localizada
Avoiding damage and using specific shampoo and supplements improved the hair condition.
research Tales of bugs, delusions of parasitosis, and what to do
Escitalopram might effectively treat delusions of parasitosis and possibly Morgellons disease, with psychological factors being important to consider.
research Birt-Hogg-Dube Syndrome with a Novel Mutation in the FLCN Gene
A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
research Vulvovaginal involvement in Netherton syndrome: A case report
Netherton syndrome can cause severe and chronic vulvovaginal symptoms that may improve with continuous oral contraceptives.
research Factors affecting bone maturation in Chinese girls aged 4-8 years with isolated premature thelarche
Obesity and certain hormone levels can lead to advanced bone age in young girls with early breast development.
research Netherton's Syndrome.
A 7-year-old girl was diagnosed with Netherton's Syndrome, shown by skin and hair symptoms.
research [Hirsutism].
Hirsutism, often caused by PCOS, is treated with medication and weight loss is important for obese women with PCOS.
research An N-Ethyl-N-Nitrosourea Induced Corticotropin-Releasing Hormone Promoter Mutation Provides a Mouse Model for Endogenous Glucocorticoid Excess
Researchers created a mouse model for Cushing's syndrome to study glucocorticoid excess and potential treatments.
research Necrolytic Migratory Erythema in a Cat with Glucagonoma Syndrome
A cat with a rare pancreatic tumor and diabetes died despite treatment, showing similar symptoms to a human condition.
research CLINICAL NUTRITION PROGRAM IMPROVES FATIGUE, ANXIETY, BRAIN FOG AND IMMUNO-HORMONAL AND GASTROINTESTINAL SYMPTOMS IN A 40 YEAR OLD FEMALE WITH SYSTEMIC ERYTHEMATOUS LUPUS
A nutrition program significantly improved a woman's lupus symptoms.
research Balint’s syndrome—missed or mistaken?
The document concludes that early diagnosis of Balint's syndrome is crucial for effective treatment and that understanding drug interactions, like between ritonavir and statins, is important for patient care.
research Multibacillary leprosy with positive serology misdiagnosed as systemic lupus erythematosus
A woman was wrongly diagnosed with lupus but actually had leprosy.