research A Syndrome of Congenital Ichthyosis, Mental Retardation, Myopathy, and Anemia in Dizygotic Twin Sisters
The twins' condition is unique and doesn't match any known syndromes.
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research Treatment-Resistant Schizophrenia and Global Cortical Atrophy in a Patient with Turner Syndrome
A person with Turner Syndrome showed severe schizophrenia that didn't respond to treatment and had brain shrinkage.
research Writer’s Cramp Presentation of Woodhouse–Sakati Syndrome – Out of the Woods
Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.
research Commonly Associated Disorders With Complete Scalp Alopecia in Early Childhood: A Review
Six genetic conditions are often linked to complete scalp hair loss in children.
research Sjogren-Larsson Syndrome: Case Report of a 21-Year-Old Woman
If someone has scaly skin, muscle stiffness, and intellectual disability, doctors should consider Sjogren-Larsson Syndrome, but other conditions if more symptoms are present.
research C2orf37 Mutational Spectrum in Woodhouse-Sakati Syndrome Patients
Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.
research Dermatological Manifestations of Down's Syndrome
People with Down's syndrome often have more skin problems due to a weak immune system.
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 A 10 Mb Duplication in Chromosome Band 5q31.3–5q33.1 Associated with Late-Onset Lipodystrophy, Ichthyosis, Epilepsy, and Glomerulonephritis
A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.
research Delayed Diagnosis of Kearns-Sayre Syndrome in a 38-Year-Old Male Patient: A Case Report
A 38-year-old man was diagnosed late with Kearns-Sayre syndrome after being wrongly treated for epilepsy.
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 Biotinidase Deficiency: A Survey of 10 Cases
Biotin treatment improves symptoms of biotinidase deficiency, but some neurological damage may be permanent.
research Trichorrhexis Nodosa Secondary to Argininosuccinicaciduria
Hair thinning and loss in a girl with a rare metabolic disorder was linked to her condition.
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 Pemphigus Vulgaris in Only One of Two Monozygotic Twins
Genetic factors alone might not cause pemphigus vulgaris; other factors like birth complications and puberty may trigger it.
research Clinical Case Notes: Retinoblastoma, Microphthalmia, and Chromosome 13q Deletion Syndrome
The document concludes that careful diagnosis is crucial for chromosome 13q deletion syndrome, tamoxifen can cause reversible eye damage, finasteride may be linked to cataracts, and OCT is useful for diagnosing macular diseases.
research Acrodermatitis Enteropathica – Diagnostic Challenges
Genetic testing confirmed a rare skin disorder in a young girl, which improved with zinc supplementation.
research Mental Health of the Nursing Team in the Context of the COVID-19 Pandemic
Nursing staff's mental health was affected during the COVID-19 pandemic.
research The Burden of Alopecia Areata: A Scoping Review Focusing on Quality of Life, Mental Health, and Work Productivity
Alopecia areata greatly affects people's life quality, mental health, and work life.
research Dermatological Manifestations of Stress in Normal and Psychiatric Populations
Stress can worsen skin conditions and affect mental health, so doctors should include stress management in skin treatment.
research Steroid 5α-Reductase as a Novel Therapeutic Target for Schizophrenia and Other Neuropsychiatric Disorders
S5αR inhibitors might help treat schizophrenia and other mental disorders but need more research.
research The Importance of the Psychiatrist as a Member of the Multidisciplinary Pain Team
Psychiatrists are crucial in pain management teams because they help treat severe pain and related mental health issues.
research Municipal Health Plans as a Management and Planning Tool: A Bibliometric Survey on Academic Production
The document concludes that Passiflora incarnata may help with anxiety, healthcare workers need mental support, common bacteria cause hospital UTIs, telehealth for heart failure needs research, kids' screen time has increased, pregnant teens are mostly okay with their body image, diagnosing post-surgery tuberculosis is hard, older and severely ill people are more likely to have long COVID symptoms, and psychiatrists should be part of pain management teams.
research Hair Loss in Children
Most hair loss in children is caused by a few common conditions, and it's important to diagnose these properly and support the child's mental health.
research Assessment of Digital Screen Use by Children and Adolescents During the Pandemic
Children's screen time increased during the pandemic, causing various health issues.
research Two Hypomorphic Alleles of Mouse Ass1 as a New Animal Model of Citrullinemia Type I and Other Hyperammonemic Syndromes
Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.
research The Dark Side of 5α-Reductase Inhibitors' Therapy: Sexual Dysfunction, High Gleason Grade Prostate Cancer, and Depression
5α-reductase inhibitors can cause sexual problems, higher risk of aggressive prostate cancer, and depression.
research Encephalocraniocutaneous Lipomatosis, A Rare Neurocutaneous Disorder: Report Of Additional Three Cases
ECCL should be considered in patients with specific skin and eye lesions.
research Rapunzel Syndrome as a Rare Presentation of Trichobezoar
A 16-year-old girl with a hair-eating disorder needed surgery to remove a hairball from her stomach and small bowel.
research An Early Diagnosis of Trichorhinophalangeal Syndrome Type 1: A Case Report and Review of Literature
Early diagnosis of Trichorhinophalangeal syndrome type 1 is crucial for treatment and was achieved through clinical examination and family history.