research Molecular–clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load
Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
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570-600 / 1000+ resultsresearch Small Molecule Wnt Pathway Modulators from Natural Sources: History, State of the Art and Perspectives
Natural small molecules can help treat diseases by activating or inhibiting the Wnt pathway.
research Expanding phenotype of hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis caused by FAM111B mutations: Report of an additional family raising the question of cancer predisposition and a short review of early-onset poikiloderma
The document suggests a possible link between FAM111B gene mutations and increased cancer risk, particularly pancreatic cancer.
research Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)
Myhre syndrome symptoms worsen over time, with specific genetic variants affecting severity.
research Moving Beyond Boundaries: Utilization of Longitudinal Exposure–Response Model for Bounded Outcome Score to Inform Decision Making in the Accelerated Drug Development Paradigm
A 50 mg daily dose of ritlecitinib is effective for alopecia areata, with temporary treatment breaks up to 6 weeks not affecting results.
research Different Patterns of Lichen Planus in Three Members of One Family
Lichen Planus in siblings may be influenced by genetics and environment.
research Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan
Genetic variants in PDE6H and LPAR6 cause vision impairment and hair loss in two Pakistani brothers.
research De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia
A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.
research Azithromycin and Roxithromycin define a new family of “senolytic” drugs that target senescent human fibroblasts
Azithromycin and Roxithromycin can remove aging cells and may help with anti-aging.
research Botulinum toxin in modern clinical and aesthetic medicine: history, applications, risks and future perspectives
Botulinum toxin is effective for medical and cosmetic uses but requires careful handling to avoid serious side effects.
research Coexisting trichorrhexis nodosa and pili annulati: a case report of hair shaft abnormalities in a syrian family
A 23-year-old Syrian woman has two rare hair disorders, and avoiding hair treatments plus using vitamins and minoxidil may help.
research Molecular evolution of the keratin associated protein gene family in mammals, role in the evolution of mammalian hair
KRTAP genes evolved early in mammals, leading to diverse hair traits.
research The evolution of platelet-rich plasma: A 70-year-old history
PRP therapy has evolved over 70 years and is used for healing and cosmetic purposes, but its effectiveness varies.
research A Missense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia in a Family of Irish Travellers
A specific gene mutation causes complete hair loss in an Irish Traveller family.
research Efficacy and safety of the oral Janus kinase 3/tyrosine kinase expressed in hepatocellular carcinoma family kinase inhibitor ritlecitinib over 24 months: integrated analysis of the ALLEGRO phase IIb/III and long-term phase III clinical studies in alopecia areata
Ritlecitinib effectively treats alopecia areata and is safe for long-term use in people 12 and older.
research The problem of excessive hair loss as a signal for the diagnosis of coeliac disease – A family case
Excessive hair loss can be an early sign of celiac disease.
research Novel splicing‐site mutation in DCAF17 gene causing Woodhouse‐Sakati syndrome in a large consanguineous family
A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
research m6A Methylation Analysis Reveals Networks and Key Genes Underlying the Coarse and Fine Wool Traits in a Full-sib Merino Family
Key genes and pathways influence wool traits in Merino sheep.
research Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family
A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
research Evolution, classification, structure, and functional diversification of steroid 5α-reductase family in eukaryotes
Steroid 5α-reductase evolved from protists and diversified in eukaryotes, with specific roles in mammals and plants.
research Obesity in Adults: Position Statement of Polish Association for the Study on Obesity, Polish Association of Endocrinology, Polish Association of Cardiodiabetology, Polish Psychiatric Association, Section of Metabolic and Bariatric Surgery of the Association of Polish Surgeons, and the College of Family Physicians in Poland
The conclusion is that obesity should be managed with a slow, balanced approach to diet and exercise, with medication and surgery as additional options, and education and access to care are important.
research Metabolic syndrome – a new definition and management guidelines A joint position paper by the Polish Society of Hypertension, Polish Society for the Treatment of Obesity, Polish Lipid Association, Polish Association for Study of Liver, Polish Society of Family Medicine, Polish Society of Lifestyle Medicine, Division of Prevention and Epidemiology Polish Cardiac Society, “Club 30” Polish Cardiac Society, and Division of Metabolic and Bariatric Surgery Society of Polish Surgeons
The Polish medical societies have redefined metabolic syndrome and recommend lifestyle changes, certain medications, and possibly bariatric surgery for treatment. They also discuss managing related health conditions.
research Tourniquet syndrome: Interest of a systematic analysis of families’ social conditions to detect neglect situations
Checking family social conditions in tourniquet syndrome cases can help find neglect.
research Increased rate of hair keratin gene loss in the cetacean lineage
Cetaceans lost hair genes to adapt to water.
research Forehead Lifting: State of the Art
Forehead lifting can restore a youthful look and improve brow aesthetics using various surgical and nonsurgical methods.
research Hair Loss: Common Causes and Treatment.
The document concludes that hair loss has many causes and treatments vary, including medication for pattern baldness and addressing underlying issues for other types.
research Evaluation of hair loss
Detailed patient history and physical exams are crucial for diagnosing hair loss.
research A Review of the Role of Psychiatrists and Pediatricians in Outpatient Treatment of Adolescents with Anorexia and Bulimia Nervosa
Family-based treatment is the best outpatient care for stable teens with anorexia, and more research is needed on medication and treatment effectiveness for young people with eating disorders.
research Differential Diagnosis of Male and Female Pattern Hair Loss
Detailed history and physical examination are crucial for diagnosing hair loss.
research Identification of key genes and signaling pathways related to Hetian sheep wool density by RNA-seq technology
Certain genes and pathways are linked to the production of finer and denser wool in Hetian sheep.