research Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review
A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
Search
for
Sort by
Research
240-270 / 1000+ results 
research Enhancing diagnostic yield of monogenic diabetes through phenotypic and molecular reanalysis of 128 individuals with young onset hyperglycemia: highlighting the significance of accurate case characterization
Combining genetic and physical trait analysis improves diagnosis accuracy for monogenic diabetes.
research Nonfebrile Seizures in Pediatrics: Key Points to Remember
Early diagnosis and treatment of hereditary vitamin D-resistant rickets (HVDRR) are crucial to prevent growth issues and other health problems.
research Causes and management of Pica disorder among central Iraqi peoples
Pica disorder in central Iraq is mainly found in females and is linked to low iron levels; treatment with iron improves most patients.
research The Glucocorticoid Resistance Syndrome. Two Cases of a Novel Pathogenic Variant in the Glucocorticoid Receptor Gene
A new gene variant causes glucocorticoid resistance in a mother and son.
research Anthropometric Indices and Clinical Manifestations After Gluten Free Diet Therapy and Nutritional Education in Pediatric Patients with Celiac Disease
A gluten-free diet improves growth and reduces symptoms in children with celiac disease.
research Nevus Sebaceus With Novel HRAS Sequence Variant Mutation Misdiagnosed as Alopecia Areata
A 12-year-old girl was misdiagnosed with alopecia areata but actually had a nevus sebaceus with a genetic mutation.
research Cross-Sectional Study of Hairline Shape among the Idoma People of Benue State, Nigeria
Most Idoma people have a curved hairline due to genetics.
research A Rare association of Mauriac syndrome and Van-Wyk Grumbach syndrome found in a young Saudi girl with poorly controlled type 1 Diabetes and Hypothyroidism: A Case Report and Brief literature review
A young Saudi girl with uncontrolled type 1 diabetes and hypothyroidism had two rare conditions, Mauriac syndrome and Van Wyk–Grumbach syndrome.
research Changes in the level of sex hormones with aging and their influence on the voice
Aging-related hormone changes affect voice quality, especially during puberty, menstruation, pregnancy, and menopause.
research Precocious Puberty: A Case Report
Early diagnosis and treatment with Leuprolide are key for children with precocious puberty.
research Hair shaft disorders: a rare case series
The document concludes that proper diagnosis and treatment of hair shaft disorders require understanding their unique causes and avoiding hair-damaging practices.
research Clinical and molecular genetic studies in hereditary hair loss
Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.
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 Adult Onset Isolated Hypogonadotropic Hypogonadism- a Cause of Secondary Amenorrhea
A 23-year-old woman's missed periods were caused by a rare genetic disorder treated with hormone patches.
research An Unusual Cause of Primary Amenorrhea
The 18-year-old girl likely has a condition called müllerian agenesis, which caused her to not have a uterus and experience no menstrual periods.
research Risk of autoimmune diseases in patients with RASopathies: systematic study of humoral and cellular immunity
Patients with RASopathies have a higher risk of autoimmune disorders and should be routinely screened.
research Precocious puberty in a 24 month old Nigerian girl: case report
A 24-month-old Nigerian girl developed early puberty with no family history, needing treatment her family couldn't afford.
research Does the law provide effective equality rights for people with a visible difference in the workplace?
UK law does not effectively ensure workplace equality for people with visible differences.
research Hair Disorders
Understanding normal hair growth and loss in children is key to diagnosing and treating hair disorders.
research Index
The document is a detailed medical reference on skin and genetic disorders.
research Acne-Associated Syndromes
Acne is linked to inflammation and insulin resistance, and is associated with various syndromes that require different treatments.
research Pharmacodynamic Evaluation: Endocrinology
The conclusion is that endocrinology significantly impacts medicine with various common medications used for treatment.
research Genetic Defects of Female Sexual Differentiation
Genetic mutations can affect female sexual development, requiring personalized medical care.
research Delayed Puberty
A 19-year-old male with delayed puberty was successfully treated for a condition that prevents normal hormone production.
research History and physical examination of polycystic ovary syndrome: Detecting too much or too little
The document concludes that careful history and physical exams are crucial for accurately diagnosing polycystic ovary syndrome and distinguishing it from other similar conditions.
research Virilization in a postmenopausal woman: Ovarian Leydig cell tumor
A postmenopausal woman's virilization was caused by a rare ovarian tumor that was hard to detect but was successfully treated with surgery.
research Gonads
The document concludes that accurate diagnosis of male and female gonadal disorders is crucial for effective treatment and better patient outcomes.
research Poikiloderma, hyperpigmentation, alopecia, hypohidrosis, malformed bones, lymphedema of the legs and decreased cortisol level: A new entity?
A new medical syndrome may include skin changes, hair loss, sweating issues, bone malformations, leg swelling, and low cortisol.
research Parathyroid adenoma with coeliac disease: primary or quaternary hyperparathyroidism? Gruczolak przytarczyc i choroba trzewna: pierwotna czy czwartorzędowa nadczynność przytarczyc?
A gluten-free diet and removing the parathyroid adenoma helped a girl with coeliac disease and high calcium levels start puberty.