research Vitamin B 12 Deficiency: A Rare Cause of Excessive Daytime Sleepiness
Vitamin B12 deficiency can rarely cause excessive daytime sleepiness.
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780-810 / 1000+ resultsresearch X linked mental retardation.
X-linked mental retardation includes various syndromes with both mental and physical abnormalities.
research Is zinc deficiency a worldwide problem and is there a silent epidemic in Saudi Arabia?
Zinc deficiency is common in Saudi Arabia and needs attention to prevent health issues.
research Congenital Adrenal Hyperplasia-Current Insights in Pathophysiology, Diagnostics, and Management.
Advancements in understanding, diagnosing, and managing congenital adrenal hyperplasia have improved treatment and long-term outcomes.
research Life Style of Female Students Nurses with Iron Deficiency Anemia
Female nursing students with iron deficiency anemia have poor knowledge and practices regarding iron intake, needing better health education and physical monitoring.
research Risk Factors for Pediatric Alopecia Areata: Clinical and Biochemical Findings from a Case – Control Study
Children with alopecia areata often have vitiligo, allergic asthma, ADHD, and low vitamin B12 and ferritin levels.
research Autoimmune Diseases and Acquired Von Willebrand Disease in Two Cases of Progeria
Premature aging increases the risk of immune problems and autoimmune diseases.
research Dermatoporosis: a further step to recognition
Topical vitamin C may help treat skin fragility in the elderly.
research Mesenchymal cell replacement corrects thymic hypoplasia in murine models of 22q11.2 deletion syndrome
Replacing defective mesenchymal cells with normal ones fixes thymic growth issues in 22q11.2DS mouse models.
research Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction
A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
research 312 CRISPR/Cas9-based targeted genome editing for correction of recessive dystrophic epidermolysis bullosa using iPS cells
The research showed that CRISPR/Cas9 can fix mutations causing a skin disease in stem cells, which then improved skin grafts in mice, but more work on safety and efficiency is needed.
research Eruptive vellus hair cysts: report of a pediatric case with partial response to calcipotriene therapy.
A child with eruptive vellus hair cysts showed some improvement with calcipotriene cream.
research [Exogenous zinc deficiency syndrome].
Oral zinc supplements quickly resolved skin issues from zinc deficiency.
research Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response
A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
research 8242 A Case of Ayme Gripp Syndrome
Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
research Disturbed Keratinocyte Differentiation in Transgenic Mice and Organotypic Keratinocyte Cultures as a Result of Spermidine/Spermine N1-Acetyltransferase Overexpression
Overexpression of SSAT causes hair loss and skin issues, but reducing putrescine can help.
research Giant Axonal Degeneration: Scanning Electron Microscopic and Biochemical Study of Scalp Hair
The patient's hair had unique damage and a lower sulfur-to-nitrogen ratio compared to relatives, but not compared to healthy controls.
research Unusual Presentation of Denys-Drash Syndrome in a Girl with Undisclosed Consumption of Biotin
A girl with Denys-Drash syndrome was misdiagnosed due to biotin affecting her hormone test results.
research The Cycle Characteristics and Outcomes of Infertile Nonclassic 21-Hydroxylase Deficiency Patients Undergoing Ovarian Stimulation for In Vitro Fertilization
Women with nonclassic 21-hydroxylase deficiency can have successful pregnancies through IVF, with certain factors affecting their chances.
research Identification and characterization of genes for skin and hair disorders
New gene variants were found for rare skin and hair disorders, improving understanding and treatment.
research 512 Varicella-zoster virus in actively spreading segmental vitiligo skin
The study suggests a link between varicella-zoster virus and segmental vitiligo, with evidence of the virus disrupting skin pigment cells.
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 [Anejaculation caused by haemosiderosis: male infertility in hereditary haemochromatosis].
Early diagnosis and treatment of haemochromatosis are crucial for reversing organ damage and improving fertility.
research Chronic telogen effluvium in Egyptian children: Analysis of common risk factors
Low ferritin and zinc levels, as well as anemia, are linked to more severe hair loss in Egyptian children with chronic hair shedding.
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 Pure Hair‐Nail Ectodermal Dysplasia: Expanding the HOXC13 Genotypic Spectrum
research A Spontaneous Fatp4/Scl27a4 Splice Site Mutation in a New Murine Model for Congenital Ichthyosis
A gene mutation in mice causes severe skin disorder similar to a human condition.
research 924 Efficient genome editing using CRISPR/Cas9 ribonucleoprotein approach in iPS cells for recessive dystrophic epidermolysis bullosa
Researchers fixed gene mutations causing a skin disease in stem cells, which then improved skin grafts in mice.
research Use of smartphones in telemedicine: Comparative study between standard and teledermatological evaluation of high-complex care hospital inpatients
Low-cost videomicroscopes might not be reliable for examining scalp disorders compared to standard methods.
research Acrodermatitis Enteropathica in an adult: a case report
Zinc supplements and diet changes can effectively treat zinc deficiency and prevent complications.