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Results 111 to 120 of about 225,158 (305)

Relative Exchangeable Copper Confirms Wilson Disease and Supports Reclassification of the ATP7B p.Met665Ile Variant With Conflicting Pathogenicity Evidence

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by ATP7B mutations. Diagnosis is usually straightforward in symptomatic patients, but can be challenging in children and adolescents with mild liver disease, borderline urinary copper excretion, or inconclusive genetic findings.
Emanuele Nicastro +10 more
wiley +1 more source

Geriatric psychiatry: is the jury still out on the cognitive effects of homocysteine and one-carbon metabolism?

Current Opinion in Psychiatry, 2003
Purpose of review: This review considers the evidence for the contribution of hyperhomocysteinemia to cognitive impairment, the dementias and Parkinson's disease, focusing on published literature from April 2002 to April 2003. Recent findings: Homocysteine is a sulphur-containing amino acid that is involved in cycles related to one-carbon metabolism ...
Looi, Jeffrey, Sachdev, Perminder Singh
openaire +2 more sources

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel +41 more
wiley +1 more source

Molecular Profiling of Genes Associated With Methylphenidate Pathway Therapy and Discovery of New Variants in Amazonian Amerindian Populations

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT In Attention Deficit Hyperactivity Disorder (ADHD), methylphenidate is one of the most widely used drugs, in which patient response significantly impacts prognosis. This study aimed to characterize the molecular profile of 10 genes associated with methylphenidate therapy.
Aline Pasquini Santos +14 more
wiley +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young +6 more
wiley +1 more source

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza +1 more
wiley +1 more source

Can melatonin prevent or improve metabolic side effects during antipsychotic treatments?

Neuropsychiatric Disease and Treatment, 2017
Maria-Cristina Porfirio,1 Juliana Paula Gomes de Almeida,2 Maddalena Stornelli,1 Silvia Giovinazzo,1 Diane Purper-Ouakil,3 Gabriele Masi4 1Unit of Child Neurology and Psychiatry, “Tor Vergata” University of Rome, Italy; 2Unit of Child ...
Porfirio MC +5 more
doaj

Are There Causal Associations Between Obsessive‐Compulsive Disorder and Cardiometabolic Phenotypes? A Genetic Correlation and Bi‐Directional Mendelian Randomization Study

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT In epidemiological studies, obsessive‐compulsive disorder (OCD) is robustly associated with increased risk of cardiometabolic disorders, including cardiovascular diseases, type 2 diabetes, and obesity. However, the mechanisms behind these associations are unclear. We conducted genetic correlation analyses to explore shared genetic etiology and
Robyn E. Wootton +217 more
wiley +1 more source

Cerebellar dysregulation and heterogeneity of mood disorders

Neuropsychiatric Disease and Treatment, 2014
Edward H Tobe Department of Psychiatry, Cooper Medical School of Rowan University, Camden, NJ, USA Abstract: This paper discusses diverse studies to consider the hypothesis that cerebellar pathology supports the heterogeneous metabolic pathologies of ...
Tobe EH
doaj

Shared neurobiological changes in individuals with Crohn’s disease and major depressive disorder

Communications Medicine
Background Emerging evidence highlights the profound impact of the central nervous system on the gut. This is particularly evident in inflammatory bowel disease, where psychological stress has been shown to modulate the inflammatory response and precede ...
Hanna A. Hartmann +13 more
doaj +1 more source

humans
psychiatry
ketogenic diet

3. good health
mental disorders
metabolic syndrome

ketogenic metabolic therapy
bipolar disorder
depression