research Adrenal Disorders and the Pediatric Brain: Pathophysiological Considerations and Clinical Implications
Adrenal disorders can cause lasting brain and behavior issues in children.
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research Congenital Atrichia Associated with Situs Inversus and Mesocardia
A 2-year-old boy had no hair and unusual organ placement, and it's unclear if it's genetic or coincidental.
research ATP-Dependent Chromatin Remodeling During Mammalian Development
ATP-dependent chromatin-remodeling complexes are crucial for gene regulation, cell differentiation, and organ development in mammals.
research Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene
A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.
research Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family
A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
research No Relationship Between Perceived Health Anomalies and Perceived Experimental Success in Retired Breeder Male Hartley Albino Guinea Pigs
Health issues in retired breeder guinea pigs don't affect experiment success.
research Vitamin D and Human Health: Lessons from Vitamin D Receptor Null Mice
Mice without the vitamin D receptor have bone issues and other health problems, suggesting vitamin D is important for preventing various diseases in humans.
research Developmental Toxicity of Levo-Alpha-Acetylmethadol (LAAM) in Tolerant Rats
LAAM caused developmental toxicity in tolerant rats without causing birth defects.
research A Brazilian Case of IFAP Syndrome With Severe Congenital Ichthyosis and Limb Malformations Caused by a Rare Variant in MBTPS2
A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
research K ATP Channels and Cardiovascular Disease
K_ATP channel gene mutations are linked to heart diseases, but more research is needed to understand the connection and treatment potential.
research Topical Absorption and Systemic Toxicity
Some chemicals absorbed through the skin can cause serious health problems.
research Myotonic Dystrophy Type 1: Enhancing Patient Management Through Genetic and Multisystem Studies
There is no cure for myotonic dystrophy type 1, so treatment focuses on managing symptoms and complications.
research Abstracts from the 2009 Annual Meeting of the Society for Pediatric Dermatology
UVB is good for a skin condition in Asian kids, a lotion works for head lice, a drug helps with a skin blistering disorder, a foam reduces itchiness in skin inflammation, birthmarks can be more widespread, and criteria for a neurocutaneous disorder were agreed upon.
research Potassium Channel Openers Increase Aortic Elastic Fiber Formation and Reverse the Genetically Determined Elastin Deficit in the Brown Norway Rat
Potassium channel openers help form elastic fibers in arteries and can treat elastin deficiency and hypertension.
research The Multisystem Impact of Long COVID: A Comprehensive Review
Long COVID causes a wide range of long-lasting symptoms that change over time and are hard to diagnose and treat.
research DSP c.6310delA p.(Thr2104Glnfs*12) Associates With Arrhythmogenic Cardiomyopathy, Increased Trabeculation, Curly Hair, and Palmoplantar Keratoderma
A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
research A Missense Mutation in the P2RY5 Gene Leading to Autosomal Recessive Woolly Hair in a Syrian Patient
A gene mutation causes woolly hair in a Syrian patient.
research Testosterone Replacement in 49,XXXXY Syndrome: Andrological, Metabolic, and Neurological Aspects
Testosterone therapy improved physical and social health in a male with 49,XXXXY syndrome.
research Plastic Surgical Considerations in Pediatric Dermatologic Abnormalities
Treat pediatric skin issues with accurate diagnosis, multidisciplinary team, and various treatment options.
research Fetal Alcohol Syndrome: Current Status of Pathogenesis
The document concludes that the exact way alcohol causes harm to fetal development is unknown, but it significantly affects nutrient transport to the fetus and a safe level of alcohol during pregnancy is not determined.
research Innovative Therapeutics in Pediatric Dermatology
New treatments for skin conditions in children include a preferred drug for birthmark reduction, proactive creams for eczema and vitiligo, a safe psoriasis medication, and special tissues and socks for eczema and fungal infections.
research Hair Loss And Its Management In Children
The document concludes that early diagnosis and a comprehensive treatment plan are crucial for managing hair loss in children, with a focus on both medical and psychological support.
research Eosinophilia Associated with Clozapine – A Case Report
A patient's allergic reaction to clozapine resolved without stopping the medication, showing the importance of blood monitoring.
research An Overview of Harmful Effects of Polycystic Ovary Syndrome
Polycystic Ovary Syndrome (PCOS) can lead to diabetes, heart disease, cancer, and mental health problems.
research Sodium Valproate: Doctor Jekyll and Mister Hyde
Sodium valproate is effective in treating epilepsy, especially in patients who don't respond to other medications.
research Development of a Non-Parametric Population Pharmacokinetics Model and Bayesian Estimator for Tacrolimus in Tunisian Renal Transplant Patients
The model and estimator can predict drug exposure in kidney transplant patients well.
research Polycystic Ovary Syndrome and Cardiovascular Disease
PCOS increases the risk of heart disease and type 2 diabetes in women.
research Hair Shaft Abnormalities: Clues to Diagnosis and Treatment
Hair problems can be caused by genetics or the environment, and treatment should focus on the cause and reducing hair damage.
research Familial Nonmembranous Aplasia Cutis of the Scalp
Some families have a genetic condition where they are born with irregular scalp defects.
research Cantú Syndrome with Coexisting Familial Pituitary Adenoma
Cantú syndrome may be linked to pituitary adenomas.