research 410 Oral dysbiosis in palmoplantar pustulosis patients with arthro-osteosis
People with palmoplantar pustulosis, especially with bone issues, have different mouth bacteria compared to healthy people.
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research Case 3: The Hypothermic Newborn
The infant with a urea cycle disorder improved with treatment and a liver transplant.
research Metabolomic analysis of SMP30/GNL knockout mice treated with fermented vegetable and fruit extract (OM-X®)
OM-X® helped prevent negative effects of Vitamin C deficiency in mice, suggesting it could protect organs and regulate metabolism.
research Improvement of Antioxidant Defences in Keratinocytes Grown in Physioxia: Comparison of 2D and 3D Models
Physioxia improves keratinocyte protection against oxidative stress and better mimics real skin conditions.
research Untargeted Metabolomic Approach to Study the Serum Metabolites in Women with Polycystic Ovary Syndrome
Women with PCOS have different levels of certain metabolites in their blood, which could help diagnose and predict the condition.
research Olmsted syndrome
Olmsted syndrome is a rare skin disorder causing thickened skin and other symptoms.
research PREVALENCE OF NON-ALCOHOLIC FATTY LIVER DISEASE IN WOMEN WITH POLYCYSTIC OVARY SYNDROME AND ITS CORRELATION WITH METABOLIC SYNDROME
Women with PCOS are more likely to have fatty liver disease and worse metabolic health.
research Toxic and Metabolic Disorders of the Nervous System
Certain vitamins in wrong amounts, alcohol abuse, metals, and other toxins can cause serious brain and nerve damage.
research Characterisation of Myotonic Dystrophy type I cell models and drug evaluation by a cell- based quantification platform.
Antisense oligonucleotides show promise for treating Myotonic Dystrophy type I.
research KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies
A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
research NovelPAX9mutation associated with syndromic tooth agenesis
A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.
research Gene detection in a family with monilethrix and treatment with 5% topical minoxidil
5% topical minoxidil improves hair density and quality in monilethrix patients.
research The CAP1/Prss8 catalytic triad is not involved in PAR2 activation and protease nexin‐1 (PN‐1) inhibition
CAP1/Prss8 does not activate PAR2 or inhibit PN-1.
research Retinol dehydrogenase 12 (RDH12): Role in vision, retinal disease and future perspectives
The enzyme RDH12 plays a role in vision and retinal disease, with mutations leading to early onset visual loss and blindness, but the exact disease mechanism is unclear and there are no treatments yet.
research Drug related lipid metabolism abnormalities: a real-world pharmacovigilance exploratory analysis based on U.S. FDA adverse event reporting system (FAERS)
Many drugs can cause lipid metabolism issues, and labels need better warnings.
research Association of severity of menstrual dysfunction with cardiometabolic risk markers among women with polycystic ovary syndrome
Severe menstrual issues in PCOS women signal higher risk for heart and metabolic problems.
research Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)
The UD-PrOZA program successfully diagnosed 18% of adult patients with rare diseases, often using genetic testing.
research Mutant Cx43 in Skin Differentiation and Disease
Mutant Cx43 causes slower wound healing and hair growth issues in ODDD.
research Prooxidant and antioxidant action of 4-(4-phenoxybenzoyl)benzoic acid derivatives
4-(4-Phenoxybenzoyl)benzoic acid derivatives can both increase and decrease certain types of reactive oxygen species, and may be relevant to hair loss.
research From Reproductive Disorder to Metabolic Syndrome: The Evolution of Polycystic Ovary Syndrome (PCOS) into Polyendocrine Metabolic Ovarian Syndrome (PMOS)
PCOS is now seen as a complex metabolic and hormonal disorder called PMOS.
research Phenotypic variation in biotinidase deficiency
Biotinidase deficiency has various symptoms and can be treated with biotin supplements.
research The Influence of Portocaval Shunting on Inner Ear Structures
PCS rats show significant inner ear damage and zinc deficiency, similar to liver cirrhosis patients.
research Pre‐polycystic ovary syndrome and polymenorrhoea as new facets of polycystic ovary syndrome (PCOS): Evidences from a single centre data set
Polymenorrhoea should be included in PCOS diagnostic criteria due to similar metabolic issues.
research Isolated Amylase Deficiency as a Cause of Failure to Thrive
Isolated amylase deficiency can cause failure to thrive and should be checked with specific tests.
research The Aldo-Keto Reductase AKR1B10 Is Up-Regulated in Keloid Epidermis, Implicating Retinoic Acid Pathway Dysregulation in the Pathogenesis of Keloid Disease
research Diagnosing Essential Fatty Acid Deficiency
Mild essential fatty acid deficiency can cause health issues and is worsened by low-fat diets.
research Food Deprivation-induced Expression of Minoxidil Sulfotransferase in the Hypothalamus Uncovered by Microarray Analysis
Food deprivation increases MST enzyme in the brain, possibly affecting energy balance.
research Biomarker of Oxidative Stress in Premature Hair Graying at Young Age
People with premature hair graying have an imbalance between harmful and protective molecules in their body, hinting that antioxidants might help.
research Acetate meliorates depressive-like behaviour in a rat model of PCOS through suppression of HDAC2 expression and DNA methylation
Acetate helps reduce depression in rats with PCOS by lowering specific gene expression and DNA changes in the brain.
research Polycystic Ovary Syndrome: A Complex Interplay of Hormones and Metabolism
PCOS involves hormonal and metabolic issues, increasing risks for diabetes and heart disease, and requires lifestyle changes and medication for management.