research Clinical Efficacy and Cholesterol-Lowering Effects of Inclisiran
Inclisiran is effective at lowering cholesterol.
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research Prevalence and Associated Factors of Diabetic Ketoacidosis Among Patients Living with Type 1 Diabetes in Makkah Al-Mukarramah City
Diabetic ketoacidosis is common among people with Type 1 diabetes in Makkah Al-Mukarramah City.
research Malignant Melanoma
The document's conclusion cannot be provided because the document is not readable or understandable.
research Immune System Response to the COVID-19 Virus and Third Boosters
Third booster shots enhance the immune system's response to the COVID-19 virus.
research Non-Surgical Options to Treat Androgenic Alopecia
Minoxidil, Finasteride, and low-level laser therapy can help manage hair loss.
research A Case of MBTPS1-Related Disorder Due to Compound Heterozygous Variants in MBTPS1 Gene: Genotype-Phenotype Expansion and the Emergence of a Novel Syndrome
A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
research RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome
Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
research Frequency of Neuro-Psychiatric Dysfunction in Anti-SSA/SSB Exposed Children With and Without Neonatal Lupus
Anti-Ro exposed children had more reported neuro-psychiatric issues, but differences from healthy controls were not significant.
research Discordant Phenotype in Monozygotic Twins with Mosaic Trisomy 12p in Lymphocytes
Identical twins had different symptoms because one had more cells with an extra chromosome fragment in different tissues.
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 Two Novel BTD Mutations Causing Profound Biotinidase Deficiency in a Chinese Patient
The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
research Twins With Psychiatric Features and a Nonsense HRAS Variant Affecting Transcript Processing
A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
research Porokeratotic Adnexal Ostial Nevus: A Paradigm of Cutaneous Mosaicism
PAON shows skin patterns due to genetic mosaicism.
research Comparison of Body Image Perception and Depression in Polycystic Ovarian Syndrome and Non-PCOS Women
Women with PCOS are more likely to experience depression and have a negative body image compared to women without PCOS.
research Late Diagnosis of Complete Androgen Insensitivity
A 31-year-old woman was diagnosed with Complete Androgen Insensitivity Syndrome much later than usual, leading to a call for earlier detection and treatment guidelines.
research Cantú Syndrome Is Caused by Mutations in ABCC9
Cantú syndrome is caused by mutations in the ABCC9 gene.
research Fertility Evaluation of Infertile Women: A Committee Opinion
The conclusion is that women under 35 should start fertility checks after 12 months of trying to conceive, women over 35 after 6 months, and women over 40 should start immediately. The checks should include ovulation status, reproductive tract structure, and male partner's semen evaluation.
research Genetic Hair Disorders: A Review
The conclusion is that genetic testing is important for diagnosing and treating various genetic hair disorders.
research Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes
The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
research Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome
A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
research Evaluation of Clinical and Oral Findings in Patients With Epidermolysis Bullosa
People with Epidermolysis bullosa have many health problems including poor oral health, which is often neglected due to other medical issues.
research The Genetics of Autism and Steroid-Related Traits in Prenatal and Postnatal Life
Autism's genetics are linked with early age of puberty and less hair loss, but not with hormone levels or polycystic ovary syndrome.
research Biotin And Biotinidase Deficiency
Biotin and biotinidase are essential to prevent health issues, and deficiencies require lifelong supplementation.
research Netherton's Syndrome: A Syndrome of Elevated IgE and Characteristic Skin and Hair Findings
Netherton's syndrome is linked to high IgE levels and unique skin and hair symptoms, and may improve with ammonium lactate lotion and allergy management.
research Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2
Damaging mutations in NFKB2 cause a severe and distinct form of primary immunodeficiency with early-onset and often ACTH-deficiency.
research Trichoscopy in Genetic Hair Shaft Abnormalities
Trichoscopy is a quick and easy way to diagnose most genetic hair problems without invasive methods.
research Molecular Genetics of the PI3K-AKT-mTOR Pathway in Genodermatoses: Diagnostic Implications and Treatment Opportunities
The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.
research Gomez–Lopez-Hernandez Syndrome: Two New Cases and Review of the Literature
The document adds two cases of Gomez-Lopez-Hernandez syndrome and suggests including trigeminal anesthesia and scalp alopecia as key diagnostic criteria.
research Pili Torti: A Feature of Numerous Congenital and Acquired Conditions
Pili torti is a rare condition where hair is twisted and breaks easily, often linked to genetic disorders or other health issues.
research Shortcutting the Diagnostic Odyssey: The Multidisciplinary Program for Undiagnosed Rare Diseases in Adults (UD-PrOZA)
The UD-PrOZA program successfully diagnosed 18% of adult patients with rare diseases, often using genetic testing.