research Dental manifestations in Vitamin D dependent rickets Type II with Alopecia: a short pictorial case report
Children with Vitamin D-dependent rickets type II may have severe dental issues that need a team of specialists for proper care.
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research Ocular manifestations in a case of Kallmann syndrome – An interesting case report on isolated gonadotropin-releasing hormone deficiency
Kallmann syndrome can cause eye issues and other health problems, requiring various treatments.
research Polikistik Over Sendromu ve Obezite: FTO ve MC4R Gen Polimorfizmlerinin Rolü
Genetic variations in FTO and MC4R may contribute to PCOS by affecting obesity.
research Early Onset Werner Syndrome
Consider Werner syndrome in young patients with early aging signs and metabolic issues.
research PA33 When bones speak through nails: insights from a paediatric case series
Nail abnormalities in children can indicate deeper health issues.
research Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature
Woodhouse-Sakati syndrome often causes sexual development issues, hair loss, learning disabilities, deafness, muscle contractions, limb pain, and diabetes.
research Acrodermatitis dysmetabolica in an infant with maple syrup urine disease
Increasing isoleucine intake improved skin and health issues in an infant with maple syrup urine disease.
research Dermatological problems of the puberty
Puberty often causes skin issues like acne and excessive sweating, and treatments require patience as results may vary.
research Metabolic dysfunction in female mice with disruption of 5α-reductase 1
Female mice with disrupted 5α-reductase 1 had significant metabolic issues, including stress response problems, insulin resistance, liver fat buildup, and obesity.
research A combination of low-dose systemic etretinate and topical calcipotriol/betamethasone dipropionate treatment for hyperkeratosis and itching in Olmsted syndrome associated with a TRPV3 mutation
The combined treatment effectively managed severe skin issues in Olmsted syndrome.
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 Diagnostic imaging in congenital adrenal hyperplasia – how does it help?
Imaging helps detect adrenal gland issues and monitor treatment in congenital adrenal hyperplasia, and can identify tumors affecting fertility.
research Ehlers-Danlos syndrome: From bedside to bench
Comprehensive genetic testing and international collaboration are crucial for better understanding and managing Ehlers-Danlos syndromes.
research Inborn Errors of Metabolism
Doctors need to recognize and treat metabolic disorders in children early to prevent serious health issues.
research Congenital adrenal hyperplasia
CAH is a genetic disorder affecting cortisol production and causing hormonal imbalances, with treatment and diagnosis varying by form and symptoms.
research Identification of a novel heterozygous mutation in the first Japanese case of Marie Unna hereditary hypotrichosis
Researchers found a new genetic mutation causing a rare hair loss condition in the first Japanese child studied.
research Patologías dermatológicas de origen nutricional en los pequeños animales: una revisión
Nutritional deficiencies in small animals can cause skin issues like allergies and hair loss.
research Alopecia Areata and Atopic Dermatitis: Common Mechanisms and Emerging Therapeutics
Alopecia areata and atopic dermatitis share immune system issues, and treatments like JAK inhibitors can help both.
research Polycystic ovary syndrome: Pathophysiology, Symptoms, Risk factors, and Pharmacological treatment
PCOS causes hormonal issues and infertility, with treatment options including medication and lifestyle changes.
research SUN-332 A Rare Case Of Hereditary 1,25 (OH)2D Resistant Rickets
A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requires high doses of calcium and vitamin D for management.
research 6874 A Rare Case Of Hereditary 1,25 (OH)2D Resistant Rickets
A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.
research Pharmacotherapy of plexiform neurofibromas in patients with neurofibromatosis type 1. Possible adverse events and their management
Selumetinib effectively reduces tumor size in many children with neurofibromatosis type 1, but can cause skin and hair issues.
research To study on nutritional status in suffering from polycystic ovary syndrome (PCOS)
PCOS is linked to metabolic issues and infertility, needing more research.
research Polycystic Ovary Syndrome
PCOS is a genetic disorder affecting women's reproductive health, with treatments focused on symptoms like insulin resistance and fertility.
research Demodicidose generalizada em cão da raça Teckel: Relato de caso
A young Teckel dog had severe skin issues due to mites, worsened by incorrect treatment, needing specific medications and prevention by not breeding affected dogs.
research TOC
The document covers various male health issues, their causes, treatments, and related conditions.
research Personalized Hair Care Leveraging Genomic Variation for Optimal Hair Health
Tailored treatments based on genetics improve hair health.
research Androgenetic alopecia: a case report and family survey
Androgenetic alopecia is more common in males, can be influenced by lifestyle, and may be linked to other skin issues.
research Role of cholesterol sulfate in epidermal structure and function: Lessons from X-linked ichthyosis
Cholesterol sulfate buildup due to a genetic mutation disrupts the skin barrier, leading to the scaling skin seen in X-linked ichthyosis.
research Vitiligo
Vitiligo causes white skin patches and is linked to autoimmune issues.