research THE EFFECT OF REPLENISHMENT OF IRON STORES AFTER PHLEBOTOMY THERAPY IN PORPHYRIA CUTANEA TARDA
Replenishing iron after phlebotomy can cause relapse in porphyria cutanea tarda.
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research Clin-Alert
In 2002, various drugs caused serious side effects, including vitamin B12 deficiency, heart issues, blindness, hypersexuality, allergic reactions, blood clotting problems, pupil dilation, capillary leak syndrome, muscle breakdown, hepatitis, skin reactions, and lupus.
research Clinical Snippets
Melanoma risk tools need improvement, certain gene mutations cause skin diseases and could be treated by targeting those mutations, skin wrinkling may relate to lung aging due to genetic factors, and oxidative stress affects hair loss but can be reduced in low oxygen.
research Inborn Errors of Metabolism
Doctors need to recognize and treat metabolic disorders in children early to prevent serious health issues.
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 Serum Paroxonase 1 Level and Androgenetic Alopecia: Correspondence
PON1 levels might indicate hair loss severity, but other health factors can affect this.
research Case 3: The Hypothermic Newborn
The infant with a urea cycle disorder improved with treatment and a liver transplant.
research Buschke-Ollendorff syndrome
Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.
research Dehydrogenase, Cortisol, Dopamine, Zinc, and Vitamin D3 in Iraqi Patients with Polycystic Ovary Syndrome
PCOS patients have higher LDH and lower cortisol, dopamine, zinc, and vitamin D3, which may contribute to their symptoms and obesity.
research Ornithine decarboxylase is a target for chemoprevention of basal and squamous cell carcinomas in Ptch1+/– mice
Targeting ornithine decarboxylase can help prevent skin cancer.
research Pigmented contact dermatitis due to therapeutic sensitizer as complication of contact immunotherapy in alopecia areata
Some patients with severe alopecia areata developed skin darkening from their treatment, which may indicate a less effective response to the therapy.
research Liver transplantation for propionic acidemia in children
Liver transplantation is a viable option for children with propionic acidemia, improving quality of life and diet, but does not remove all risks and long-term brain outcomes are uncertain.
research Polymorphisms of the genes ABCG2, SLC22A12 and XDH and their relation with hyperuricemia and hypercholesterolemia in Mexican young adults
The ABCG2 gene variant increases the risk of high uric acid and cholesterol, especially in overweight or obese young Mexican males.
research Role of Oxidative Stress in Obese and Nonobese PCOS Patients
Oxidative stress is higher in women with PCOS, especially if they're obese, and it may increase their risk of heart disease.
research Retinoids Modulate MITF: A Novel Mechanism in the Regulation of Melanogenesis
Retinoids or their analogs could treat skin pigmentation disorders like melasma and vitiligo.
research 5α-reductase activity in the prostate
Blocking the enzyme 5α-reductase can shrink the prostate and help treat enlarged prostate issues.
research Allopregnanolone is required for prepulse inhibition deficits induced by D1 dopamine receptor activation
Allopregnanolone is needed for certain brain processing issues caused by D1 dopamine receptor activation.
research Polycystic Ovaries Are Inherited as an Autosomal Dominant Trait: Analysis of 29 Polycystic Ovary Syndrome and 10 Control Families
Polycystic ovaries and early male baldness are inherited traits.
research Inhibition of the pro-oxidant effects of benoxaprofen on poiymorpbonuclear leucocytes by retinol acetate in vitro
Retinol acetate can reduce the harmful effects of the drug benoxaprofen on white blood cells.
research Trichothiodystrophy: Review of sulfur-deficient brittle hair syndromes and association with the ectodermal dysplasias
research Rotterdam criteria–based diagnostic subtype is not a strong predictor of cutaneous phenotype in patients with polycystic ovary syndrome: A cross-sectional study
The type of PCOS a woman has doesn't strongly predict her skin or metabolic symptoms; obesity is a more important factor.
research Deficient Plakophilin-1 Expression Due to a Mutation in PKP1 Causes Ectodermal Dysplasia-Skin Fragility Syndrome in Chesapeake Bay Retriever Dogs
A PKP1 gene mutation causes skin fragility and hair loss in Chesapeake Bay retriever puppies.
research Pure Hair‐Nail Ectodermal Dysplasia: Expanding the HOXC13 Genotypic Spectrum
research Common Forms of Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia is mainly caused by enzyme deficiencies, leading to varying symptoms like hormone imbalances and physical changes.
research Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia
Mutations in the HOXC13 gene cause hair and nail development issues.
research Polymorphisms of the genes ABCG2, SLC22A12 and XDH and their relation with hyperuricemia and hypercholesterolemia in Mexican young adults
A specific gene variation increases the risk of high uric acid and cholesterol in young Mexican males.
research Hyperandrogenism and insulin resistance modulate gravid uterine and placental ferroptosis in PCOS-like rats
Hyperandrogenism and insulin resistance in PCOS-like rats can lead to pregnancy complications due to increased cell death in the uterus and placenta.
research NUDT15 polymorphism explains serious toxicity to azathioprine in Indian patients with chronic immune thrombocytopenia and autoimmune hemolytic anemia: a case series
The NUDT15 gene variant causes severe side effects from azathioprine in some Indian patients.
research Drug-Induced Melasma in Patients on 5-Alpha Reductase Inhibitors: A Case Report
Finasteride can cause melasma, especially in people with darker skin.
research HSD3B1 Genotypes Conferring Adrenal-Restrictive and Adrenal-Permissive Phenotypes in Prostate Cancer and Beyond
Certain HSD3B1 gene types are linked to worse prostate cancer outcomes and affect treatment response and other health conditions.