research NIPAL4 mutation c.527C˃A identified in Romanian patients with autosomal recessive congenital ichthyosis
The NIPAL4 mutation c.527C>A is common in Romanian patients with autosomal recessive congenital ichthyosis.
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research Clinical, Biochemical and Molecular Characteristics of Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
21-hydroxylase deficiency causes hormone imbalances leading to various symptoms, and diagnosis involves clinical and genetic tests.
research [Netherton's syndrome in two sisters].
Two sisters with Netherton's syndrome had skin and hair issues, needing special diet and ointments.
research Acrodermatitis enteropathica – diagnostic challenges
Genetic testing confirmed a rare skin disorder in a young girl, which improved with zinc supplementation.
research Man made disease: Clinical manifestations of low phenylalanine levels in an inadequately treated phenylketonuria patient and mouse study
Proper diet management is crucial for phenylketonuria patients to avoid severe health issues.
research A case of MBTPS1 ‐related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype–phenotype expansion and the emergence of a novel syndrome
A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
research 33813 Retrospective study of the prevalence of hyperkalemia in women taking spironolactone for acne, hair loss, and hirsutism
Monitoring potassium levels is important for women taking spironolactone.
research Tuning Scaffold Properties of New 1,4-Substituted Pyrrolo[3,2-c]quinoline Derivatives Endowed with Anticancer Potential, New Biological and In Silico Insights
Compound 7p shows strong potential as an anticancer agent.
research REV7: a small but mighty regulator of genome maintenance and cancer development
REV7 is crucial for genome stability and cancer treatment, making it a potential target for therapy.
research Two diagnoses become one? Rare case report of anorexia nervosa and Cushing’s syndrome
A woman with anorexia and Cushing's syndrome improved after tumor removal, highlighting the need to consider hormonal issues in psychiatric conditions.
research SALICYLATE INGESTION AND IDIOPATHIC HAIR LOSS
Avoiding aspirin may prevent hair loss.
research Granulomatous Microscopic Colitis Due to Allopurinol
Allopurinol may cause rare granulomatous microscopic colitis.
research Unusual Presentation of Denys-Drash Syndrome in a Girl with Undisclosed Consumption of Biotin
A girl with Denys-Drash syndrome was misdiagnosed due to biotin affecting her hormone test results.
research Нарушения фосфорно-кальциевого обмена у детей с хронической болезнью повек
Early phosphorus-calcium disorders in children with chronic kidney disease can lead to bone issues, highlighting the need for early bone density testing.
research Mycobacteriosis in a Pet Ferret (Mustela putorius furo) Caused by Mycobacterium xenopi: A Case Report on Neglected Risk of Zoonotic Transmission
A pet ferret had a serious infection from Mycobacterium xenopi, which can spread to humans.
research Two Hypomorphic Alleles of Mouse Ass1 as a New Animal Model of Citrullinemia Type I and Other Hyperammonemic Syndromes
Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.
research MON-080 Cushing Disease Secondary To Rathke’s Cleft Cyst
Rathke’s cleft cysts can rarely cause Cushing disease, and surgery can improve symptoms.
research Hirsutism in Women.
Hirsutism in women is mostly caused by polycystic ovary syndrome and idiopathic hyperandrogenism.
research Minoxidil overdose with hypotension effectively managed with norepinephrine, rather than dopamine
research Challenges in the Diagnosis of Simple-Virilizing Congenital Adrenal Hyperplasia: A Case Report
Diagnosing simple-virilizing congenital adrenal hyperplasia can be difficult and requires thorough testing and expert advice.
research Mice with Alopecia, Osteoporosis, and Systemic Amyloidosis Due to Mutation in Zdhhc13, a Gene Coding for Palmitoyl Acyltransferase
A gene mutation in mice causes hair loss, weak bones, and protein buildup, showing how protein processing issues can lead to diseases.
research The Impact of the COVID-19 Pandemic on Aesthetic Procedures
The pandemic increased interest in aesthetic treatments due to more online meetings.
research Quintaquinone, a Merosesquiterpene from the Yellow Sponge Verongula cf. rigida Esper
A new compound from a sponge strongly inhibits an enzyme linked to male-pattern hair loss without being toxic at low levels.
research Concurrent hyperadrenocorticism in a minature schnauzer with severe Trichophyton mentagrophytes infection
Combining terbinafine and mitotane effectively treated a schnauzer's skin infection and hormone disorder.
research SAT378 Unusual Case of Hirsutism From Prolactinoma Induced Dihydrotestosterone Elevation
A woman's excessive hair growth was linked to a rare case of high testosterone caused by a prolactin-producing pituitary tumor.
research Genetic Defects in Human Pericentrin Are Associated With Severe Insulin Resistance and Diabetes
People with PCNT mutations often develop severe insulin resistance and early-onset diabetes during childhood or adolescence.
research SUN-118 A Case of Anastrozole Induced Hyperandrogenism
Anastrozole can cause increased testosterone, leading to symptoms like hair growth and thinning.
research In vitro and in silico evaluation of toxicological and anti-proliferative activity in phytochemical compounds of several solvent extracts from Zaleya pentandra L
Zaleya pentandra extracts, especially acetone, may be useful for new medicines and food industry applications.
research Natural Bizbenzoquinoline Derivatives Protect Zebrafish Lateral Line Sensory Hair Cells from Aminoglycoside Toxicity
Some natural compounds can protect fish ear cells from damage by certain antibiotics without affecting the antibiotics' ability to fight infections.
research Nonsteroidal inhibitors of human type I steroid 5-.alpha.-reductase
New compounds called benzoquinolinones may treat conditions linked to excess DHT.