research Menkes Syndrome Presenting as Myoclonic Seizures: Neuroimaging and EEG Observations
An 11-month-old boy with Menkes disease had severe brain shrinkage and abnormal blood vessels, and didn't respond well to treatment.
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research Novel missense mutation in the EDA gene in a family affected by oligodontia
Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.
research Biotinidase deficiency characterized by skin and hair findings
Biotin supplements improved skin and hair problems in a girl with biotinidase deficiency.
research Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases
BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
research Hair Follicle Miniaturization in a Woolly Hair Nevus
The boy with woolly hair nevus had thinner hair and abnormal hair follicles, which improved with treatment but worsened when treatment stopped.
research Atrichia with papular lesions in a Taiwanese patient without hairless (HR) gene mutation
A Taiwanese patient had hair loss and skin bumps without the usual gene mutation, suggesting other genetic factors might be involved.
research Diffuse loss of hair with papules
The young man has complete hair loss and skin bumps, with no other health issues or family history.
research Multiple endocrine defects in adult-onset Sprouty1/2/4 triple knockout mice
Removing Sprouty genes in mice causes various hormone-related issues but does not increase cancer risk by one year of age.
research Schimmelpenning Syndrome: A Neuro-Oculo-Cutaneous Disorder
Schimmelpenning Syndrome requires careful evaluation and tailored treatment for skin, eye, and developmental issues.
research Involvement of ILC1-like innate lymphocytes in human autoimmunity, lessons from alopecia areata
ILC1-like cells can cause alopecia areata by attacking hair follicles.
research Ocular manifestation in progeria: A case report
A boy with progeria had eye problems and signs of aging like hair loss and skin wrinkling.
research Seasonality,.Climatic.Unpredictability,.Food. Deprivation,.and.Polycystic.Ovary.Syndrome
PCOS may have evolved as an advantage in past environments with food scarcity.
research Inherited ichthyosis: Syndromic forms
Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
research The pathophysiology of polycystic ovary syndrome: trying to understand PCOS and its endocrinology
The conclusion is that PCOS is caused by ovarian sensitivity to hormones and disrupted hormone control, possibly due to ovarian factors, and more research is needed.
research Diagnosis and management of the dermatologic manifestations of the polycystic ovary syndrome
The document concludes that accurate diagnosis and personalized treatment are important for skin problems in women with PCOS.
research Acne
Hormonal treatments can help with acne, especially in women, by lowering androgen levels or blocking their effects.
research Male gonadal function in coeliac disease: 2. Sex hormones.
Men with coeliac disease may have hormone imbalances that could affect sexual function, but these can improve with better gut health.
research Role of S-Palmitoylation by ZDHHC13 in Mitochondrial function and Metabolism in Liver
ZDHHC13 is important for normal liver function and metabolism, affecting mitochondrial activity.
research Role of Zinc in Mucosal Health and Disease: A Review of Physiological, Biochemical, and Molecular Processes
Zinc is vital for immune health, growth, and preventing diarrhea.
research TCL1 transgenic mouse model as a tool for the study of therapeutic targets and microenvironment in human B-cell chronic lymphocytic leukemia
The TCL1 transgenic mouse model is useful for understanding human B-cell leukemia and testing new treatments.
research Maintaining Hair Inductivity in Human Dermal Papilla Cells: A Review of Effective Methods
The review concluded that keeping the hair-growing ability of human dermal papilla cells is key for hair development and growth.
research Does a male polycystic ovarian syndrome equivalent exist?
Early onset baldness in men may indicate a condition similar to PCOS, linked to heart disease, diabetes, and prostate issues.
research Unruly hair
The document concludes that unruly hair can be congenital or acquired, often lacks specific treatments, and can be managed with oils and short hairstyles.
research Finasteride improves motor, EEG, and cellular changes in rat brain in thioacetamide-induced hepatic encephalopathy
Finasteride helps brain function in rats with liver-related brain issues.
research Adam10 haploinsufficiency causes freckle-like macules in Hairless mice
A mutation in the Adam10 gene causes freckle-like spots on Hairless mice.
research Telogen effluvium in daily practice: Patient characteristics, laboratory parameters, and treatment modalities of 3028 patients with telogen effluvium
Most patients with telogen effluvium had low iron and vitamin D levels; iron supplements were commonly prescribed.
research Poikiloderma congenitale-an early case of rothmund-thomson's syndrome
A patient with Rothmund-Thomson syndrome showed skin changes, hair loss, and dental defects but no cataracts or skeletal issues.
research Acne in Dark Skin
Acne in dark skin is influenced by environmental factors and can lead to hyperpigmentation, with various treatment options available.
research Mimicking Hair Disorders by Genetic Manipulation of Organ-Cultured Human Hair Follicles
Scientists can mimic hair disorders by altering genes in lab-grown human hair follicles, but these follicles lack some features of natural ones.
research Pregnancy in postpartum estrus induces inflammatory milk production and catagen specific pup skin inflammation in interleukin-10 deficient mice
Pregnancy right after giving birth in mice lacking IL-10 causes milk that leads to liver issues and hair loss in their babies.