Πλοήγηση ανά Θέμα "family history"
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7q Deletion/12q Duplication Is the Possible Cause of an Alobar Holoprosencephaly Case
(2017)Holoprosencephaly (HPE) spectrum disorder is the most common congenital malformation of the human brain with absence of or incomplete midline cleavage. Its cause is heterogenic, making genetic counseling a challenge. In ... -
Apolipoprotein ϵ4 allele is associated with frailty syndrome: Results from the hellenic longitudinal investigation of ageing and diet study
(2019)Apolipoprotein (APOE) ϵ4 allele has been associated with a number of age-related diseases but previous studies failed to identify any link with Frailty syndrome. The aim of the present study is to investigate the association ... -
Associations between sleep and obesity indices in older adults: results from the HELIAD study
(2019)Background: Short sleep duration and low sleep quality are negatively associated with obesity in young adults, but in older people the results are inconsistent. Aims: The aim of the present study was to examine the ... -
Awareness of thrombotic disease during lockdown: an unusual consequence of the COVID-19 pandemic
(2021)[No abstract available] -
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy revisited: Genotype-phenotype correlations of all published cases
(2020)Objective The aim of this study was to evaluate the correlation between the various NOTCH3 mutations and their clinical and genetic profile, along with the presentation of a novel mutation in a patient.MethodsHere, we ... -
Epidemiology, impact, and treatment options of restless legs syndrome in end-stage renal disease patients: An evidence-based review
(2014)Restless legs syndrome (RLS) (or Willis-Ekbom disease) is a neurological disorder with high prevalence among the end-stage renal disease population. This is one of the most predominant types of secondary RLS, and it is ... -
Factors associated with recurrent transient global amnesia: Systematic review and pathophysiological insights
(2021)The examination of the risk factors that affect the recurrence of transient global amnesia (TGA) may shed light on the pathophysiological substrate of the disease. A systematic review was performed to identify the factors ... -
A familial concurrence of schizophrenia and Gaucher's disease
(2007)Background: Gaucher's disease (GD) is the most frequently encountered lysosomal storage disease. Here, we describe and discuss the observed concurrence of schizophrenia and Gaucher's disease in two siblings. Methods: ... -
The greek variant in app gene: The phenotypic spectrum of app mutations
(2021)Mutations in the gene encoding amyloid precursor protein (APP) cause autosomal dominant inherited Alzheimer’s disease (AD). We present a case of a 68-year-old female who presented with epileptic seizures, neuropsychiatric ... -
Hereditary hyperferritinemia cataract syndrome as a cause of childhood hyperferritinemia
(2014)A 2-year-old female was presented with high levels of serum ferritin (890 ng/mL) in a routine blood test. Clinical and laboratory investigations excluded the presence of iron overload and secondary causes of hyperferritinemia. ... -
Immune checkpoint inhibitor-induced musculoskeletal manifestations
(2021)Immune checkpoint inhibitors (ICI) associate with a wide range of immune-related adverse events (Ir-AE), including musculoskeletal manifestations. We aimed at identifying all studies reporting musculoskeletal Ir-AE. An ... -
Increased cholestatic enzymes in two patients with long-term history of ulcerative colitis: Consider primary biliary cholangitis not always primary sclerosing cholangitis
(2017)Several hepatobiliary disorders have been reported in ulcerative colitis (UC) patients with primary sclerosing cholangitis (PSC) being the most specific. Primary biliary cholangitis (PBC), previously known as primary biliary ... -
Lack of replication of thirteen single-nucleotide polymorphisms implicated in Parkinson's disease: a large-scale international study
(2006)Background: A genome-wide association study identified 13 single-nucleotide polymorphisms (SNPs) significantly associated with Parkinson's disease. Small-scale replication studies were largely non-confirmatory, but a ... -
A large-scale genetic association study to evaluate the contribution of Omi/HtrA2 (PARK13) to Parkinson's disease
(2011)High-profile studies have provided conflicting results regarding the involvement of the Omi/HtrA2 gene in Parkinson's disease (PD) susceptibility. Therefore, we performed a large-scale analysis of the association of common ... -
Left-handedness and parental psychopathology in the course of bronchial asthma in childhood
(2001)Psychopathology in the family seems to have a role in the course of a child's asthma. The purpose of this study was to examine the possible impact of parental anxiety and depression on the course of asthma, as well as to ... -
Longitudinal Monitoring of Parkinson's Disease in Different Ethnic Cohorts: The DodoNA and LONG-PD Study
(2020)Background: Different factors influence severity, progression, and outcomes in Parkinson's disease (PD). Lack of standardized clinical assessment limits comparison of outcomes and availability of well-characterized cohorts ... -
Physicians’ experience, practice and education, on genetic testing and genetic counseling: a nationwide survey study in Greece
(2022)Genetic testing has been implemented in clinical practice. However, data on physician’s practices and education related to cancer genetics, risk assessment and clinical management in Greece, is limited. In Greece, genetic ... -
Postpartal recurrent non-ST elevation myocardial infarction in essential thrombocythaemia: Case report and review of the literature
(2010)Normal pregnancy corresponds to a procoagulant state. Acute myocardial infarction during pregnancy is rare, yet considering the low non-pregnant risk score of childbearing women it is still surprisingly frequent. We report ... -
Pregnancy and thrombosis risk for women without a history of thrombotic events: a retrospective study of the real risks
(2022)Background: During pregnancy and puerperium women are at high VTE risk. Current guidelines recommend dynamic VTE-risk assessment during pregnancy. Based on related RCOG-guidelines we constructed a digital VTE-risk assessment ... -
A probable role of copper in the comorbidity in Wilson's and Creutzfeldt-Jakob's Diseases: A case report
(2020)Background: To the best of our knowledgedd, there is currently no case in the literature reporting the comorbidity of Wilson's and Creutzfeldt-Jakob disease (CJD), linked through copper. Case presentation: A 44-year-old ...