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research Diagnostic challenge: Loose anagen hair syndrome
The study concludes that Loose Anagen Hair Syndrome is a benign condition that usually improves with age but can be hard to diagnose and stressful for the family.
research Use of pegvaliase in the management of phenylketonuria: Case series of early experience in US clinics
Pegvaliase effectively reduces blood phenylalanine levels in most PKU patients, but requires personalized plans and good communication to manage side effects.
research Glibenclamide reverses cromakalim-induced anti-ischemic effect in conscious rabbits
research Neonatal Ichthyosis and Sclerosing Cholangitis Syndrome
NISCH syndrome is a rare genetic disorder affecting skin and liver, with variable symptoms and limited treatment options.
research Novel D323G mutation of DSG 4 gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix
A new DSG4 gene mutation causes hair defects in a young girl.
research Probiotics: An Adjuvant therapy for D-Galactose induced Alzheimer's disease
L. plantarum MTCC 1325 may help improve memory and cognitive functions in Alzheimer's.
research Encephalocraniocutaneous lipomatosis: congenital alopecia treatment in a rare neurocutaneous syndrome
A girl with a rare syndrome had successful hair loss treatment with no relapse after 4 years.
research Abnormal Saccadic Oscillations Associated with Severe Acute Respiratory Syndrome Coronavirus 2 Encephalopathy and Ataxia
A man developed neurological issues from SARS-CoV-2 without severe breathing problems, worsening to death.
research A Rare Case of Cutis Verticis Gyrata with Underlying Cerebriform Intradermal Nevus
A patient with a scalp condition and benign skin tumor experienced hair loss and did not improve with treatment, choosing not to have surgery despite a small cancer risk.
research Somatoforme Störungen
research Combination of metformin with liraglutide in treating HAIR-AN syndrome in children: A case report and literature review.
Metformin and liraglutide improved symptoms of HAIR-AN syndrome in a child.
research Diagnostic pitfalls in ovarian androgen-secreting (Leydig cell) tumours: case series
Ovarian Leydig cell tumors are hard to diagnose with just advanced imaging; expert ultrasound and clinical evaluation are essential.
research GASTROINTESTINAL TUBERCULOSIS PRESENTING AS INTESTINAL OBSTRUCTION IN A 16-YEAR-OLD FILIPINO WITH PEDIATRIC SYSTEMIC LUPUS ERYTHEMATOSUS
Early recognition and management of gastrointestinal tuberculosis in lupus patients are crucial to prevent complications.
research Neonatal screening in Sweden and disease-causing variants in phenylketonuria, galactosaemia and biotinidase deficiency
The Swedish neonatal screening program effectively detects PKU, galactosaemia, and biotinidase deficiency with low false positives.
research Clouston Syndrome: Report of a Jordanian Family with GJB6 Gene Mutation
A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.
research 292 Topical gabapentin for the treatment of symptomatic scalp in cicatricial alopecias
Topical gabapentin was safe and effective for treating scalp symptoms and promoting hair regrowth in cicatricial alopecias.
research Kin‐cohort analysis of LRRK2‐G2019S penetrance in Parkinson's disease
The LRRK2-G2019S mutation in Parkinson's disease has a lifetime penetrance of 25-35%, and finasteride may help reduce symptoms in adult male Tourette syndrome patients.
research Lichen myxedematosus in a patient with hepatocellular carcinoma
Removing the liver tumor improved the patient's skin condition and hair growth.
research An Occult Leydig Cell Tumour in a Postmenopausal Woman Presenting with Alopecia and Hirsutism: A Case Report
Surgery removed an ovarian tumor, improving her symptoms and normalizing testosterone levels.
research The effects of sex-steroids and menstrual cycle/oestrous phases on knee ligament laxity in humans and rodents / Firouzeh Dehghan
Knee laxity varies with menstrual cycle phases, being highest during ovulation and menstruation, and is influenced by sex-steroids.
research Dependence of anxiolytic effects of the dipeptide TSPO ligand GD-23 on neurosteroid biosynthesis
GD-23 reduces anxiety by relying on neurosteroid production.
research Crystalline Cataract and Uncombable Hair
The study found no common cause for a girl's crystalline cataract and uncombable hair, suggesting their co-occurrence might be coincidental.
research GJB6 missense variant in a Labrador Retriever with paw pad hyperkeratosis
A genetic variant in the GJB6 gene likely caused the Labrador's paw pad condition.
research Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice
Mice with LSS deficiency showed hair loss and cataracts, similar to humans, and can help in understanding and treating this condition.
research Keratosis Pilaris-like Eruption during Treatment of Chronic Myeloid Leukemia with Tyrosine Kinase Inhibitors: Literature Review and Report of a Case Related to Imatinib
Some leukemia treatments can cause skin reactions similar to keratosis pilaris.
research Erosive Pustular Dermatosis of the Scalp-Like Eruption due to Gefitinib: Case Report and Review of the Literature of Alopecia Associated with EGFR Inhibitors
Stopping gefitinib improved scalp condition in a woman with lung cancer.
research Alopecia Induced by Poly-L-Lactic Acid Injection
Poly-L-lactic acid injections can cause hair loss and skin issues.
research Post-Fundoplication Late Dumping Syndrome in an Adult Diagnosed by Provocative Modified Oral Glucose Tolerance Test
Late dumping syndrome after fundoplication can be diagnosed with an oral glucose tolerance test and managed with diet changes.
research Loose Anagen Hair Associated with Wooly Hair Caused by a Heterozygous, Intronic KRT71 Variant
A genetic variant in the KRT71 gene may cause loose anagen hair and wooly hair, and symptoms might improve with age.