research Expanding the Phenotype: Four New Cases and Hope for Treatment in Bachmann-Bupp Syndrome
Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
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60-90 / 141 resultsresearch New Case of Trichorhinophalangeal Syndrome-Like Phenotype with a De Novo t(2;8)(p16.1;q23.3) Translocation Which Does Not Disrupt the TRPS1 Gene
A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
research Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan
Genetic variants in PDE6H and LPAR6 cause vision impairment and hair loss in two Pakistani brothers.
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 Abstracts from the 4th Annual Student Medical Summit
The document concludes that more research is needed to reduce frequent hospital visits, addiction medicine education improves with specific training, early breast cancer surgery findings are emerging, nipple smears are not very accurate, surgery for older melanoma patients doesn't extend life, a genetic condition in infants can often be treated with one drug, doctors are inconsistent with blood clot medication, a certain gene may protect against cell damage, muscle gene overexpression affects many other genes, and some mitochondrial genes are less active in mice with tumors.
research Integrative Medicine and Helmet Constructions: Milestones and Perspectives
Helmets used in acupuncture and light therapy can affect brain blood flow, hair growth, and may improve brain diseases and cognitive functions.
research How Biodegradable Polymers Can Be Effective Drug Delivery Systems for Cannabinoids: Perspectives and Challenges
Biodegradable polymers can improve cannabinoid delivery but need more clinical trials.
research Toxic and Metabolic Disorders of the Nervous System
Certain vitamins in wrong amounts, alcohol abuse, metals, and other toxins can cause serious brain and nerve damage.
research Commonly Encountered Symptoms and Their Management in Patients With Cirrhosis
Cirrhosis affects quality of life with various symptoms, requiring a holistic, multidisciplinary approach for management.
research The Role of Candidate Pharmacogenetic Variants in Determining Valproic Acid Efficacy, Toxicity, and Concentrations in Patients with Epilepsy
Genetic variants can affect valproic acid's effectiveness, side effects, and levels in epilepsy treatment.
research Epidermolysis Bullosa Simplex in Children with De Novo Pathogenic Variants Disturbing KRT14
Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.
research Analysis of Adverse Drug Reactions in Pediatric Patients with Epilepsy: An Intensive Pharmacovigilance Study
Many pediatric epilepsy patients experience preventable severe adverse drug reactions, especially with certain medications and risk factors.
research Pressure Alopecias: A Review
Pressure-induced hair loss is rare, often reversible, and early diagnosis is crucial to prevent complications.
research Melatonin in the Skin: Synthesis, Metabolism, and Functions
Melatonin in the skin helps protect against damage from stress and UV rays, and could be used to treat certain skin conditions.
research Beneficial Effects of Pranic Meditation on the Mental Health and Quality of Life of Breast Cancer Survivors
Pranic meditation significantly improved mental health and quality of life for breast cancer survivors.
research Cytostatics and Immunosuppressive Drugs: Toxicities and Management
Some cancer and immune system drugs can cause serious side effects, including heart, lung, nerve, and organ damage, which need careful monitoring and management.
research Menkes Syndrome Presenting as Myoclonic Seizures: Neuroimaging and EEG Observations
An 11-month-old boy with Menkes disease had severe brain shrinkage and abnormal blood vessels, and didn't respond well to treatment.
research Effect of Allopregnanolone and Allotetrahydrodeoxycorticosterone on Spike-Wave Discharges in the EEG of Absence Epilepsy Rat Models
The steroids allopregnanolone and allotetrahydrodeoxycorticosteron worsened absence seizures in rats.
research Neuropsychiatric Lupus: A Severe Manifestation of Systemic Lupus Erythematosus
Neuropsychiatric lupus is a severe form of lupus that needs strong treatment to improve life quality.
research Secondary Syphilis in Patients Treated at the City Institute for Skin and Venereal Diseases in Belgrade from 2010 to 2014
The conclusion is that cerebrovascular diseases can cause seizure-like activity in stroke patients, which can be improved with antiepileptic drugs.
research Preoperative Versus Postoperative Language Specialization in Infants with Sagittal Craniosynostosis: An ERP Study
Surgery may help infants with sagittal craniosynostosis develop more typical language processing.
research Progressively Intractable Seizures, Focal Alopecia, and Hemimegalencephaly
The boy had a unique condition with seizures, uneven hair loss, and an enlarged brain hemisphere.
research UV Light May Induce Hypertrichosis Through Production of Prostaglandin E2
UV light might cause excessive hair growth by increasing PGE2 in the skin.
research The Effects of Biotin Supplementation on Alopecia in Rats Treated with Valproic Acid
Biotin supplements did not significantly reduce hair loss in rats on valproic acid.
research Hyperplasia of the Subcutaneous Adipose Tissue Is the Primary Histopathologic Abnormality in Lipedematous Scalp
Lipedematous scalp is mainly caused by an increase in fat tissue under the skin and is different from lipedematous alopecia.
research Finasteride Inhibits the Progesterone-Induced Spike-Wave Discharges in a Genetic Model of Absence Epilepsy
Finasteride blocks progesterone's effect on absence seizures in rats.
research Long-Term Control of Epileptic Drop Attacks With the Combination of Valproate, Lamotrigine, and a Benzodiazepine: A Proof of Concept, Open Label Study
The drug combination significantly reduced epileptic drop attacks in patients.
research Serum Drug Level-Related Sodium Valproate-Induced Hair Loss
High levels of the seizure medication sodium valproate can cause hair loss.
research Hair Loss with Levetiracetam in Five Patients with Epilepsy
Levetiracetam may cause hair loss, which can potentially reverse with lower doses or stopping the drug.
research Encephalocraniocutaneous Lipomatosis: Congenital Alopecia Treatment in a Rare Neurocutaneous Syndrome
A girl with a rare syndrome had successful hair loss treatment with no relapse after 4 years.