research Ichthyosiform Erythroderma, a Multifaceted Syndromic Entity
A baby with KID syndrome died from infections and organ failure at 18 months old.
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300-330 / 1000+ resultsresearch Potassium Channel Openers Increase Aortic Elastic Fiber Formation and Reverse the Genetically Determined Elastin Deficit in the BN Rat
Potassium channel openers help form elastic fibers in arteries and can treat elastin deficiency and hypertension.
research C85. Right heart failure due to chronic thromboembolic pulmonary hypertension in systemic lupus erythematosus patient: a case report
A woman with lupus had right heart failure due to blood clots in her lungs, but treatment improved her condition.
research A Case of Gynecomastia Induced by Use of Doxazosin
Doxazosin can cause male breast growth and milk production.
research FRI220 Primary Bilateral Macronodular Adrenal Hyperplasia: A Rare Cause Of Cushing Syndrome
A rare case of Cushing syndrome was successfully treated with one-sided adrenal gland removal, suggesting personalized treatment is important.
research Recognizing ophiasis pattern in discoid lupus: a rare diagnostic challenge
Dermatologists should recognize diverse discoid lupus signs to avoid misdiagnosis.
research Porokeratotic eccrine and hair follicle nevus: a report of two cases and review of the literature
Porokeratotic eccrine and hair follicle nevus is a very rare skin disorder possibly caused by a GJB2 gene mutation.
research MALE PSEUDOHERMAPHRODITISM DUE TO 17β-HYDROXYSTEROID DEHYDROGENASE DEFICIENCY: STUDIES ON THE NATURAL HISTORY OF THE DEFECT AND EFFECT OF ANDROGENS ON GENDER ROLE
Masculinization in affected individuals occurs gradually after puberty due to hormone changes.
research Cantú syndrome with coexisting familial pituitary adenoma
Cantú syndrome may be linked to pituitary adenomas.
research Cronkhite–Canada Syndrome With Multiple Mesenteric Lymphadenopathy: A Case Report
Early diagnosis and treatment with corticosteroids can improve outcomes in Cronkhite–Canada syndrome.
research Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2)
New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
research Ornithine decarboxylase transgenic mice as a model for human atrichia with papular lesions
ODC transgenic mice can model human hair loss with skin lesions.
research Primary Essential Cutis Verticis Gyrata: A Case Report with a Review of Literature
Primary essential CVG is a rare, benign scalp condition with treatment focusing on symptom management and hygiene.
research <p>Positional Vertigo and Unilateral Gradual Hearing Loss Following Sleeve Gastrectomy: A Case Report</p>
A woman experienced vertigo and hearing loss after weight loss surgery, possibly due to eustachian tube issues from fat loss around ear muscles.
research Electronic Circular Dichroism Imaging (ECD i ) Casts a New Light on the Origin of Solid‐State Chiroptical Properties
The research found that the properties of solid-state Electronic Circular Dichroism (ss-ECD) are influenced by the orientation of local crystals, which could help in examining and mapping chiral materials like pharmaceutical ingredients.
research Clinical characterization of men with long QT syndrome and torsades de pointes associated with hypogonadism: A review and pharmacovigilance study
Low testosterone in men is a risk factor for a specific heart rhythm issue, and testosterone treatment may help prevent it.
research Choroidal Melanoma and Lid Fibrofoliculomas in Birt-Hogg-Dubé Syndrome
A patient with Birt-Hogg-Dubé Syndrome also had choroidal melanoma, suggesting the need for careful eyelid exams in such patients.
research Síndrome do nevo de Becker
The document reports the first Brazilian case of a girl with Becker nevus syndrome, characterized by skin changes, breast underdevelopment, and scoliosis.
research A rare case of Vitamin D dependent rickets type II: a case report
A child with a rare type of rickets showed some improvement with high doses of vitamin D, but such conditions often respond poorly to treatment.
research Index of Suspicion
The girl's symptoms suggest a complex condition that's hard to diagnose despite normal test results.
research A case of systemic lupus erythematosus complicated with aortic regurgitation due to bacterial endocarditis
Dental procedures and immunosuppressants can lead to heart infections in lupus patients.
research 5 alpha-reductase-2 gene mutations in the Dominican Republic.
Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.
research Valproic acid – induced Pleuro-pericardial Effusion
Valproic acid can rarely cause fluid buildup around the lungs and heart.
research Atrichia With Papular Lesions
The condition is likely inherited in an autosomal-dominant pattern.
research El teorema del 0,7 o el otro teorema de Pitágoras
A CCS patient with severe complications was successfully treated using combined therapies.
research Dermatopathia pigmentosa reticularis: A report of a case with delayed onset alopecia and onychodystrophy
DPR can cause skin, hair, and nail issues, sometimes appearing later in life.
research Differential expression of retinoic acid-synthesizing (RALDH) enzymes during fetal development and organ differentiation in the mouse
Different enzymes are active in different parts of developing mouse organs.
research Dermoscopy of discoid lupus erythematosus: Report of two cases
Dermoscopy helped diagnose discoid lupus erythematosus in two patients without needing skin biopsies.
research Clinical Presentation and Diagnosis of Multisystemic Eosinophilic Epitheliotropic Disease in a Miniature Donkey: A Case Report
The donkey had a severe disease affecting multiple organs and was euthanized.
research Comparative Evaluation Of Combined Use Of Intravenous Dexmedetomidine-Ketamine With Dexmedetomidine Alone Along With Peripheral Nerve Blocks For Split Skin Grafting From Lower Limbs In Adults
Combining dexmedetomidine and ketamine provides better sedation and pain relief than dexmedetomidine alone.