research High-content drug screening for rare diseases
High-content screening is useful for finding new treatments for rare diseases and has led to FDA-approved drugs.
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research Adams–Oliver syndrome: new evidence in variable expressivity?
The clinical signs of Adams-Oliver syndrome can vary greatly, even among family members.
research A 10 Mb duplication in chromosome band 5q31.3–5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis
A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.
research Sex Steroids, Precursors, and Metabolite Deficiencies in Men With Isolated Hypogonadotropic Hypogonadism and Panhypopituitarism: A GCMS-Based Comparative Study
Men with isolated hypogonadotropic hypogonadism have partial steroid deficiencies, while those with panhypopituitarism have severe deficiencies.
research Ichthyosis, Follicular Atrophoderma, and Hypotrichosis Caused by Mutations in ST14 Is Associated with Impaired Profilaggrin Processing
Mutations in the ST14 gene cause skin and hair issues by disrupting important protein processing.
research MON-369 Treatment of Nonclassic 11-Hydroxylase Deficiency with "Hair, Skin, and Nails," an Over-the-Counter, Insulin Sensitizing Vitamin/Mineral Supplement
An over-the-counter vitamin/mineral supplement improved hair loss and blood sugar control in a woman with non-classic 11-hydroxylase deficiency.
research Management of congenital ichthyoses: European guidelines of care, part two
European guidelines recommend regular eye and ear exams, skin care, vitamin D supplements, and cautious use of medications for managing congenital ichthyoses.
research Keratosis follicularis spinulosa decalvans in a family
KFSD is a genetic disorder causing hair loss and skin issues, with no effective treatment.
research Vitamin D deficiency in alopecia areata
Alopecia areata patients often have low vitamin D levels, suggesting they might benefit from vitamin D supplements.
research Hemoglobinopathy and Systemic Lupus: A Rare Association
Diagnosing both systemic lupus and hemoglobinopathy is challenging due to overlapping symptoms.
research Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma
New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.
research Vitamin D status in scarring and nonscarring alopecia
People with certain types of hair loss, especially lichen planopilaris and telogen effluvium, as well as African Americans, Asians, and men, are more likely to have severe vitamin D deficiency.
research Delayed epidermal permeability barrier formation and hair follicle aberrations in Inv-Cldn6 mice
Mice with too much Claudin-6 have skin barrier problems and abnormal hair growth.
research Serum vitamin D3levels and diffuse hair fall among the student population in South India: A case–control study
Low vitamin D3 levels are significantly linked to hair loss, especially in female students.
research Assessment of Multidimensional Health Care Parameters Among Adults in Japan for Developing a Virtual Human Generative Model: Protocol for a Cross-sectional Study
The study aims to create a model to predict health attributes using diverse health data from Japanese adults.
research Zinc and Growth in Jordan pediatric with picky eating; An observational research
Picky eating in children is linked to lower zinc levels and various nutritional deficiencies.
research Determination of serum 25-hydroxyvitamin D levels in patients with alopecia areata and their comparison with levels in healthy controls: A cross-sectional study
Patients with alopecia areata may have lower vitamin D levels than healthy people.
research HHV-6 reactivations in immunocompetent patients with psychiatric disorders: visual hallucinations or possible interactions?
HHV-6 reactivation may be linked to psychiatric disorders and can improve with antiviral treatment.
research MON-014 Evaluation of Healthcare of Gender-Dysphoric Veterans in the Veterans Affairs Northern California Health Care System (VANCHCS)
Care for gender-dysphoric Veterans can be improved with a consistent, team-based approach.
research Effect of 3-Beta Hydroxysteroid Dehydrogenase on Serum Testosterone Level in Obese Women With Polycystic Ovary Syndrome
3βHSD2 is not useful for diagnosing PCOS.
research Could the Risk of Chronic Degenerative Valve Disease (CDVD) in Dogs Depend on Exposure to Endocrine-Disrupting Chemicals Polluting the Environment?
Exposure to certain chemicals may increase the risk of heart disease in dogs.
research Testosterone replacement in 49,XXXXY syndrome: andrological, metabolic and neurological aspects
Testosterone therapy improved physical and social health in a male with 49,XXXXY syndrome.
research Coats' Plus: A Progressive Familial Syndrome of Bilateral Coats' Disease, Characteristic Cerebral Calcification, Leukoencephalopathy, Slow Pre- and Post-Natal Linear Growth and Defects of Bone Marrow and Integument
Coats' Plus is a genetic disorder with eye abnormalities, brain calcification, poor growth, bone and skin issues, and movement disorders.
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 Syndrome of Birt–Hogg–Dubé, a Histopathological Pitfall With Similarities to Tuberous Sclerosis
Birt–Hogg–Dubé Syndrome requires genetic testing for accurate diagnosis due to its similarities with tuberous sclerosis.
research Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies
New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
research Lack of the Vitamin D Receptor is Associated with Reduced Epidermal Differentiation and Hair Follicle Growth
Vitamin D Receptor is crucial for normal skin and hair growth.
research Assessment of Elderly’s Nutritional status in Geriatric Homes at Al-Furat Al-Awusat Governorates
Many elderly in geriatric homes are overweight and show signs of nutritional deficiency, needing better nutrition and education.
research A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type
A mutation in the KRTHB5 gene causes hair and nail issues.
research Unique Dermatological and Systemic Manifestations in a Classic Pediatric Case of Kindler Syndrome: A Case Report and Literature Review
Kindler Syndrome shows diverse symptoms and needs better diagnostic tools and care in resource-limited areas.