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research Polyglandular Syndrome Type 1 Complicated with Dilated Cardiomyopathy: A Case Report
A 27-year-old with APS-1 showed improvement in symptoms after treatment.
research Birt-Hogg-Dube Syndrome with a Novel Mutation in the FLCN Gene
A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
research Buschke-Ollendorff syndrome
Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.
research SAT-478 Virilizing Adrenal Adenoma Co-secreting Cortisol and DHEA-S: A Case Report
Surgery improved symptoms and normalized hormone levels in a woman with an adrenal tumor.
research A Missense Mutation in the Cadherin Interaction Site of The Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis
A specific gene mutation causes sparse, brittle hair in a family.
research 454 Modeling epidermolysis bullosa simplex with cardiomyopathy using KLHL24-mutant pluripotent stem cells.
KLHL24-mutant stem cells help understand skin and heart disease.
research Transient heart failure in an adult with kawasaki disease
An adult with Kawasaki disease experienced temporary heart failure but recovered without lasting heart damage.
research Dyschromatosis Universalis Hereditaria: Report of a case and Review of the Literature
A 19-month-old Saudi girl had a rare skin condition with no other defects, and her family was unaffected.
research P-19 A case of Birt Hogg Dube syndrome presented with parathyroid carcinoma
This is the first known case of parathyroid cancer in a patient with Birt Hogg Dube Syndrome.
research Colonic Intussusception due to a Large Ascending Colon Lipoma
Colonic lipomas can cause complications like intussusception, requiring surgery if symptoms occur.
research A case of cutis verticis gyrata developing in a patient with primary scarring alopecia: A unique presentation of a rare disorder
A rare scalp condition, cutis verticis gyrata, was found in a woman with primary scarring alopecia.
research Non-Invasive Quick Diagnosis of Cardiovascular Problems from Visible and Invisible Abnormal Changes with Increased Cardiac Troponin I Appearing On Cardiovascular Representation Areas of the Eyebrows, Left Upper Lip, etc. of the Face & Hands: Beneficial Manual Stimulation of Hands for Acute Anginal Chest Pain, and Important Factors in Safe, Effective Treatment
Visible and invisible changes on the face and hands can indicate heart problems, and manual hand stimulation can relieve chest pain.
research Metastatic Crohn's Disease of the Lung
Pulmonary symptoms in Crohn's disease can occur and should be diagnosed with bronchoscopy for effective treatment.
research Cutaneous features of myotonic dystrophy types 1 and 2: Implication of premature aging and vitamin D homeostasis
Patients with myotonic dystrophy often have skin problems that suggest early aging and vitamin D issues, and the severity of these problems is linked to their genetic condition and vitamin D levels.
research Hemiagenesis of the thyroid gland detected by coincidence—what is the clinical relevance?
THA is a rare condition with no significant clinical consequences if thyroid function is normal.
research Immediate and Delayed Complications of Dexamethasone Cyclophosphamide Pulse (DCP) Therapy
DCP therapy causes side effects like weakness, flushing, headaches, and taste changes, but less frequently causes hypertension and diabetes.
research USING THE FROG EPIDERMIS TO UNCOVER DESMOSOME FUNCTION AND REGULATION IN THE DEVELOPING EMBRYO
Desmosomes are crucial for skin and heart development, and JNK may help regulate them.
research 494 Epidermolysis bullosa pruriginosa, muscular dystrophy, and immune-mediated myasthenia gravis in a patient with homozygous nonsense PLEC mutation
A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
research LB1601 Dermatomyositis-related panniculitis of the neck
A woman with dermatomyositis improved after treatment for neck panniculitis, suggesting similar treatment for related conditions.
research Premature Adrenarche
Early adrenal gland maturation in young children can be normal, but other serious conditions should be ruled out first.
research Absence of Heart Failure in Severe Cardiac and Autonomic Amyloidosis: The Essential Role of Sympathetic Activation and Venous Tone in the Development of the Congestive Heart Failure Syndrome
Sympathetic activation and venous tone are crucial for heart failure symptoms.
research Dermoscopy of lipidized dermatofibromas
research Premature isolated adrenarche in a six-year-old girl
A six-year-old girl has early signs of puberty, needs no treatment, but requires regular check-ups for future health risks.
research Congenital Atrichia: A Case Report
Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
research A new compound heterozygous frameshift mutation in the type II 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) gene causes salt-wasting 3 beta-HSD deficiency congenital adrenal hyperplasia.
A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.
research A Congenital Hair Defect: Trichoschisis With Alternating Birefringence and Low Sulfur Content
research Tata Laksana Refluks Gastroesofageal pada Anak
Proper management of GER in children is crucial for effective treatment and referrals.
research Erythrocyte deformability and hereditary elliptocytosis
Hereditary elliptocytosis causes elongated red blood cells and can lead to mild or no symptoms.
research Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions
Mutations in the DSG4 gene cause specific hair and scalp issues.