research Methylmalonic Acidemia: Can Treatment be Improved?
Looser dietary restrictions can improve growth and reduce illness in methylmalonic acidemia patients.
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510-540 / 1000+ results research A New Case of Isolated Trichothiodystrophy
A rare case of isolated trichothiodystrophy was identified, marked by brittle hair with low sulfur content.
research Genetic alteration of cyclic adenosine 3',5'-monophosphate-dependent protein kinase subunit expression affects calcium currents and beta-endorphin release in AtT-20 clonal pituitary cells.
Changing protein kinase levels in pituitary cells affects calcium flow and beta-endorphin release.
research MP74-11 TRENDS IN THE PHARMACOTHERAPY OF NOCTURIA, 2016-2021: ANALYSIS OF A LARGE MULTI-INSTITUTIONAL RESEARCH NETWORK
Nocturia cases increased, but medication use declined, suggesting under-treatment.
research 69-Year-Old Man With Dysuria and Right Lower Abdominal Pain
The man was diagnosed with stage III multiple myeloma and treated to improve kidney function.
research Coexisting trichorrhexis nodosa and pili annulati: a case report of hair shaft abnormalities in a syrian family
A 23-year-old Syrian woman has two rare hair disorders, and avoiding hair treatments plus using vitamins and minoxidil may help.
research Some Clues and Pitfalls in the Diagnosis of Acromegaly
Acromegaly can be hard to diagnose in young women with atypical symptoms, and persistent high phosphate levels should lead to growth hormone testing.
research Acute Pancreatitis Possibly Related to Finasteride
research A Congenital Hair Defect: Trichoschisis With Alternating Birefringence and Low Sulfur Content
research Type II Vitamin D Dependent Rickets: A Case Report
Hair loss can be a key sign of a rare type of rickets when vitamin D treatment doesn't work and advanced tests aren't available.
research Characterization of tiger tail banding and hair shaft abnormalities in trichothiodystrophy
Tiger tail banding and hair abnormalities are reliable indicators for diagnosing trichothiodystrophy.
research Acute gross hematuria: etiology and management
Most cases of visible blood in urine resolve on their own, but severe cases may need treatment.
research Approaching fertility in congenital adrenal hyperplasia: exploring P30L mutation-induced 21-hydroxylase deficiency with a presentation between non-classical and simple virilizing phenotypes. A case report
A woman with a specific mutation causing adrenal gland issues faced fertility problems, but careful hormone therapy helped her manage it successfully.
research Transcranial focused ultrasound-mediated unbinding of phenytoin from plasma proteins for suppression of chronic temporal lobe epilepsy in a rodent model
Using focused ultrasound on the brain can help epilepsy medicine work better in rats.
research Thrombophilia and Polycythemia in a Woman With Budd-Chiari Syndrome
A woman with Budd-Chiari syndrome improved after treatment and needs a liver transplant, highlighting the importance of considering non-criteria antiphospholipid syndrome in similar cases.
research A correlation of breast cancer and calcium levels in hair analyzed by X-ray fluorescence
High calcium levels in hair may indicate early breast cancer.
research Selenium Poisoning From a Nutritional Supplement
Taking too many selenium supplements can cause serious health problems like hair loss and fatigue.
research 1746 INCREASED SERUM C-REACTIVE PROTEIN LEVELS IMPLIES CHRONIC INFLAMMATION IS INVOLVED IN MEN WITH BENIGN PROSTATIC HYPERPLASIA AND PREDOMINANT STORAGE LOWER URINARY TRACT SYMPTOMS
Higher CRP levels suggest chronic inflammation is linked to bladder-related urinary symptoms in men with enlarged prostates.
research PO-0071 Role Of Growth Hormone Therapy In Clinical, Laboratory, Radiological Improvement Of Children With Vitamin-d Dependent Rickets Type-2
Growth hormone therapy can improve symptoms and growth in children with Vitamin-D Dependent Rickets Type-2.
research CERTAIN PHASES OF SULFUR METABOLISM OF THE SKIN
Cystine is crucial for forming keratin in hair, wool, and nails.
research Editorial Comment
PSA levels help determine prostate size and guide treatment choices for benign prostatic hyperplasia.
research 414 A new form of ectodermal dysplasia caused by mutations in TSPEAR
Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.
research A case of 21-hydroxylase deficiency in Turner′s syndrome and literature review
Routine genetic testing is crucial for early diagnosis and better management of Turner’s syndrome with 21-hydroxylase deficiency.
research Correlation of symptoms to serum vitamin D levels?
Low vitamin D levels are linked to symptoms like muscle cramps, fatigue, and hair loss.
research Autoimmune Polyglandular Syndrome Type 1 in Russian Patients: Clinical Variants and Autoimmune Regulator Mutations
Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.
research Case 3: The Hypothermic Newborn
The infant with a urea cycle disorder improved with treatment and a liver transplant.
research UP-02.008 Patients' Characteristics and Urodynamic Parameters of Pressure-Flow Study Failure of Patients in Our Institution
Some patients fail bladder function tests due to lower flow rates and higher remaining urine volumes, but the exact reasons for failure are unclear.
research Les Visiteurs des malades
5ARIs effectively treat and manage BPH by reducing prostate size and symptoms.
research Clinical and Laboratory Characteristics of Individuals Aged ≤17 Years With Homeostatic Iron Regulator (HFE) p.C282Y Homozygosity, a Common Hemochromatosis Genotype
Most children with a common hemochromatosis genotype had elevated iron levels but no severe symptoms.
research Diagnosis and treatment of methylmalonic acidemia in 14 cases
Early diagnosis and proper treatment improve outcomes for methylmalonic acidemia.