research Delayed Puberty
A 19-year-old male with delayed puberty was successfully treated for a condition that prevents normal hormone production.
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research FC052 Significance of psychosomatic factors in etiopathogenesis of alopecia areata
Psychological factors play a significant role in developing alopecia areata.
research A Rational Approach to the Treatment of Vitiligo and Other Hypomelanoses
Tailor treatments for vitiligo to patient needs for best results.
research Revising the role of the androgen receptor in breast cancer
The document concludes that targeting the androgen receptor may be a promising breast cancer treatment, especially for certain types.
research Distinctive Acne Entities
Acne can appear or persist in adulthood due to hormonal changes, external factors, or substance use, and requires appropriate treatment.
research The pediatric origins of polycystic ovary syndrome
Early signs of PCOS in girls, like irregular periods and polycystic ovaries, suggest a need for early diagnosis and intervention to prevent further health issues.
research Epithelial Integrity Is Maintained by a Matriptase-Dependent Proteolytic Pathway
Matriptase is crucial for keeping epithelial tissues healthy and functioning properly.
research Zinc deficiency and its management in the pediatric population: A literature review and proposed etiologic classification
Zinc deficiency in children can cause skin issues and can be serious if not diagnosed and treated properly.
research Beyond Expectations
Keratin proteins are crucial for healthy skin, but mutations can cause skin disorders with no effective treatments yet.
research An Integrated Analysis of Cashmere Fineness lncRNAs in Cashmere Goats
lncRNA XLOC_008679 and gene KRT35 affect cashmere fineness in goats.
research Stress and the skin: Significance of emotional factors in dermatology
Stress affects skin health and emotional well-being should be considered in skin disease treatment.
research Rhombencephalosynapsis presenting antenatally with ventriculomegaly/hydrocephalus in a likely case of Gomez–López-Hernández syndrome
A 2-year-old boy with a rare brain malformation may have Gomez–López-Hernández syndrome.
research Keratosis follicularis spinulosa decalvans in a female
A rare genetic skin condition usually affecting males was found in a 9-year-old girl.
research A Critical Review on Obstetric Follow-up of Women Affected by Systemic Lupus Erythematosus
Women with Systemic Lupus Erythematosus should have closely monitored pregnancies and avoid certain medications to improve their pregnancy outcomes.
research Rodent models in placental research. Implications for fetal origins of adult disease
Using rodents for research shows that health problems in the womb can cause diseases later in life.
research Protein kinase Akt2/PKBβ is involved in blastomere proliferation of preimplantation mouse embryos
Akt2 protein is essential for normal cell division in early mouse embryos.
research Why were Sardinians the shortest Europeans? A journey through genes, infections, nutrition, and sex
Sardinians were historically short due to a mix of genetics and factors like disease and poor nutrition, but recent height increases suggest better living conditions had a bigger impact.
research The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome
Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
research Restoring neuropetide Y levels in the hypothalamus ameliorates premature aging phenotype in mice
Increasing neuropeptide Y in the brain can slow aging signs in mice.
research RISK FACTORS, PREVALENCE AND DIAGNOSIS OF HUTCHISON GILFORD SYNDROME WITH SPECIAL REFERENCE TO CASE REPORTS
Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder caused by a specific gene mutation, characterized by aging symptoms and managed by monitoring heart health and using low-dose aspirin.
research A New Heterozygous Variant of c.1225_1227delTTC (p.Phe409del) in Insulin Receptor Gene Associated with Severe Insulin Resistance and Hyperandrogenemia in an Adolescent Female with Type A Severe Insulin Resistance Syndrome
A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.
research Abstracts
Get head MRI for babies with achondroplasia early, use free immunoglobulin light chains to detect certain neurodevelopmental disorders, and video calls work for speech therapy in patients with facial anomalies.
research A GMP-compliant formulation of regeneratively active polyphosphate for wound healing and skin regeneration
The formulation helps improve wound healing and skin repair.
research Netherton Syndrome in a 9-Month-Old Child: Unraveling a Complex Dermatologic Disorder
Early diagnosis and comprehensive management improve life quality for Netherton syndrome patients.
research The laboratory in the multidisciplinary diagnosis of differences or disorders of sex development (DSD)
Diagnosing sex development disorders requires combining medical history, physical exams, imaging, lab tests, and genetic data.
research Gonads
The document concludes that accurate diagnosis of male and female gonadal disorders is crucial for effective treatment and better patient outcomes.
research Dermatological manifestations associated with pregnancy
Pregnancy can cause skin changes and conditions that need correct diagnosis and treatment for the health of the mother and baby.
research Inherited ichthyosis: Syndromic forms
Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
research FOXN1 deficient nude severe combined immunodeficiency
FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
research Clinical and laboratory assessment of mineral deficiencies in grazing sheep and goats at Sana’a Governorate, Yemen
Many sheep and goats in Sana’a, Yemen, lack essential minerals and need supplements for better health.