research Further errors in polymorph identification: furosemide and finasteride
Errors found in identifying furosemide and finasteride polymorphs due to incomplete data.
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690-720 / 1000+ results research Multiple iridociliary cysts in patients with mucopolysaccharidoses
Intralesional cidofovir may be a viable alternative treatment for SCC.
research Hair Matrix Cyst
Hair matrix cysts are rare skin nodules with unique features, often needing surgical removal.
research Visual Vignette
The woman's symptoms and tests suggest her adrenal glands are producing too many male hormones.
research Evaluation of a Combination of Cystine, B Vitamins and Minerals, in the Management of Diffuse Hair Loss in Women: A Prospective, Open-Label Study
The nutrient combination improved hair condition and was safe for women with diffuse hair loss.
research Trichothiodystrophy in a child with occult learning disorder
Early diagnosis and a multidisciplinary approach are crucial for children with Trichothiodystrophy and hidden learning disorders.
research Hydroxysteroid Dehydrogenase (17β -HSD3, 17β-HSD5, and 3α-HSD3) Inhibitors:Extragonadal Regulation of Intracellular Sex Steroid Hormone Levels
Certain inhibitors can potentially treat prostate cancer and other hormone-dependent conditions by controlling sex hormone levels in cells.
research Polycystic ovary syndrome and iron overload: biochemical link and underlying mechanisms with potential novel therapeutic avenues
Polycystic ovary syndrome and iron overload share similar symptoms and can be potentially treated with blood removal, diet changes, and probiotics.
research A 40-Year-Old Woman With Facial Papules and Flank Pain
Early recognition of skin lesions in Birt-Hogg-Dubé syndrome is crucial for detecting renal tumors early.
research Commentary on: Hairless and the polyamine putrescine form a negative regulatory loop in the epidermis
The commentary explains that a balance of HR protein and putrescine is important for normal hair growth.
research C2orf37 mutational spectrum in Woodhouse–Sakati syndrome patients
Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.
research The Effect of Dietary Copper and Molybdenum on Turkey Poults
Adding copper helps turkey poults grow better when molybdenum is present.
research Increased Polyamine Concentrations in the Hair of Cancer Patients
Hair can be used to measure cancer-related chemicals noninvasively.
research Hair Lightening of Three Hemodialysis Patients Under Heptaminol
Heptaminol may cause hair lightening in hemodialysis patients.
research An infant with congenital micrognathia and upper airway obstruction was diagnosed as Hutchinson-Gilford progeria syndrome caused by a novel LMNA mutation: Case report and literature review
An infant with Hutchinson-Gilford Progeria Syndrome had successful surgery to fix breathing issues caused by a new genetic mutation.
research NUDT15 R139C-related thiopurine leukocytopenia is mediated by 6-thioguanine nucleotide-independent mechanism in Japanese patients with inflammatory bowel disease
The NUDT15 R139C variant causes thiopurine-induced leukocytopenia through a different mechanism than previously thought in Japanese patients with inflammatory bowel disease.
research In utero Diagnosis of Trichothiodystrophy by Endoscopically-Guided Fetal Eyebrow Biopsy
Prenatal diagnosis of trichothiodystrophy is possible in the second trimester using fetal eyebrow biopsy, with sulfur content analysis being more reliable.
research Menkes Syndrome Presenting as Myoclonic Seizures: Neuroimaging and EEG Observations
An 11-month-old boy with Menkes disease had severe brain shrinkage and abnormal blood vessels, and didn't respond well to treatment.
research An adolescent girl with coexisting ovarian mature cystic teratoma and HAIR-AN syndrome, an extreme subtype of polycystic ovarian syndrome
A teenage girl had both a rare ovarian tumor and a severe form of polycystic ovarian syndrome.
research A Case Report on Iatrogenic Methotrexate Toxicity
Early recognition of methotrexate toxicity symptoms is crucial.
research Ovarian and Adrenal Venous Catheterization for Hyperandrogenism
Venous catheterization may help diagnose the cause of female hyperandrogenism when imaging is unclear.
research Acrodermatitis enteropathica – a diagnostic challenge: case report of late-onset, genetically proven disease with normal zinc serum levels
Accurate diagnosis and zinc supplements can improve life quality in acrodermatitis enteropathica, even with normal zinc levels.
research A study of phenotypic correlation with the genotypic status of HTM regions of KRTHB6 and KRTHB1 genes in monilethrix families of Indian origin
A specific gene mutation causes different hair defects in Indian monilethrix families.
research Serological Diagnosis of Helicobacter pylori Infection in Patients With a Polycystic Ovary Syndrome
H. pylori infection is not linked to PCOS or infertility.
research Practical approaches to the use of markers of biochemical hyperandrogenism in women
Accurate diagnosis and treatment of hyperandrogenism in women require comprehensive evaluation of symptoms and hormone levels.
research Radiation cystitis in acute admissions for haematuria
Radiation cystitis patients need better monitoring and early treatment due to higher readmission rates.
research Mice Expressing a Mutant Krt75 (K6hf) Allele Develop Hair and Nail Defects Resembling Pachyonychia Congenita
research ODP398 A Novel NR5A1 Gene Mutation Causing 46, XY DSD Without Adrenal Insufficiency in an Immigrant Boy from Dominican Republic
A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
research In Silico Characterization and Analysis of Clinically Significant Variants of Lipase-H (LIPH Gene) Protein Associated with Hypotrichosis
Three specific mutations in the LIPH gene can cause hair loss by damaging the protein's structure and function.
research Expression of the human Cathepsin L inhibitor hurpin in mice: skin alterations and increased carcinogenesis
Overexpression of hurpin in mice leads to abnormal skin and higher skin cancer risk.