First-degree relatives with similar phenotypic characterisation of acute myocardial infarction: a case report and review of the literature.
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ABSTRACT:
SUBMITTER: Hao YD
PROVIDER: S-EPMC6935097 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:BACKGROUND: Anti-glomerular basement membrane glomerulonephritis and thrombotic microangiopathy are rare diseases with no known coherence. CASE PRESENTATION: A daughter and her biological mother were diagnosed with pregnancy-induced thrombotic microangiopathy and anti-glomerular basement membrane glomerulonephritis, respectively. Both developed end-stage renal disease. Exploration of a common aetiology included analyses of HLA genotypes, functional and genetic aspects of the complement system, ADAMTS13 activity and screening for autoantibodies.The daughter was heterozygous carrier of the complement factor I G261D mutation, previously described in patients with membranoproliferative glomerulonephritis and atypical haemolytic uremic syndrome. The mother was non-carrier of this mutation. They shared the disease associated complement factor H silent polymorphism Q672Q (79602A>G). CONCLUSION: An unequivocal functional or molecular association between these two family cases was not found suggesting that the patients probably share another, so far undiagnosed and unknown, predisposing factor. It seems highly unlikely that two infrequent immunologic diseases would occur by unrelated pathophysiological mechanisms within first degree relatives.
| S-EPMC3411442 | biostudies-literature
Project description:Schizophrenia (SCZ) patients and their unaffected first-degree relatives (FDRs) share similar functional neuroanatomy. However, it remains largely unknown to what extent unaffected FDRs with functional neuroanatomy patterns similar to patients can be identified at an individual level. In this study, we used a multivariate pattern classification method to learn informative large-scale functional networks (FNs) and build classifiers to distinguish 32 patients from 30 healthy controls and to classify 34 FDRs as with or without FNs similar to patients. Four informative FNs-the cerebellum, default mode network (DMN), ventral frontotemporal network, and posterior DMN with parahippocampal gyrus-were identified based on a training cohort and pattern classifiers built upon these FNs achieved a correct classification rate of 83.9% (sensitivity 87.5%, specificity 80.0%, and area under the receiver operating characteristic curve [AUC] 0.914) estimated based on leave-one-out cross-validation for the training cohort and a correct classification rate of 77.5% (sensitivity 72.5%, specificity 82.5%, and AUC 0.811) for an independent validation cohort. The classification scores of the FDRs and patients were negatively correlated with their measures of cognitive function. FDRs identified by the classifiers as having SCZ patterns were similar to the patients, but significantly different from the controls and FDRs with normal patterns in terms of their cognitive measures. These results demonstrate that the pattern classifiers built upon the informative FNs can serve as biomarkers for quantifying brain alterations in SCZ and help to identify FDRs with FN patterns and cognitive impairment similar to those of SCZ patients.
| S-EPMC6679781 | biostudies-literature
Project description:Previous studies have demonstrated eye movement abnormalities during smooth pursuit and antisaccadic tasks in schizophrenia. However, eye movements have not been investigated during reading. The purpose of this study was to determine whether schizophrenic subjects and their nonsymptomatic first-degree relatives show eye movement abnormalities during reading. Reading rate, number of saccades per line, amplitudes of saccades, percentage regressions (reverse saccades), and fixation durations were measured using an eye tracker (EyeLink, SensoMotoric Instruments, Germany) in 38 schizophrenic volunteers, 14 nonaffected first-degree relatives, and 57 control volunteers matched for age and National Adult Reading Test scores. Parameters were examined when volunteers read full pages of text and text was limited to progressively smaller viewing areas around the point of fixation using a gaze-contingent window. Schizophrenic volunteers showed significantly slower reading rates (P = .004), increase in total number of saccades (P ? .001), and a decrease in saccadic amplitude (P = .025) while reading. Relatives showed a significant increase in total number of saccades (P = .013) and decrease in saccadic amplitude (P = .020). Limitation of parafoveal information by reducing the amount of visible characters did not change the reading rate of schizophrenics but controls showed a significant decrease in reading rate with reduced parafoveal information (P < .001). Eye movement abnormalities during reading of schizophrenic volunteers and their first-degree relatives suggest that visual integration of foveal and parafoveal information may be reduced in schizophrenia. Reading abnormalities in relatives suggest a genetic influence in reading ability in schizophrenia and rule out confounding effects of medication.
| S-EPMC3686437 | biostudies-literature
Project description:Entrainment, the unconscious process leading to coordination between communication partners, is an important dynamic human behavior that helps us connect with one another. Difficulty developing and sustaining social connections is a hallmark of autism spectrum disorder (ASD). Subtle differences in social behaviors have also been noted in first-degree relatives of autistic individuals and may express underlying genetic liability to ASD. In-depth examination of verbal entrainment was conducted to examine disruptions to entrainment as a contributing factor to the language phenotype in ASD. Results revealed distinct patterns of prosodic and lexical entrainment in individuals with ASD. Notably, subtler entrainment differences in prosodic and syntactic entrainment were identified in parents of autistic individuals. Findings point towards entrainment, particularly prosodic entrainment, as a key process linked to social communication difficulties in ASD and reflective of genetic liability to ASD.
| S-EPMC9262979 | biostudies-literature
Project description:ContextStudying sensorimotor and neurocognitive impairments in unaffected family members of individuals with autism may help identify familial pathophysiological mechanisms associated with the disorder.ObjectiveTo determine whether atypical sensorimotor or neurocognitive characteristics associated with autism are present in first-degree relatives of individuals with autism.DesignCase-control comparison of neurobehavioral functions.SettingUniversity medical center.ParticipantsFifty-seven first-degree relatives of individuals with autism and 40 age-, sex-, and IQ-matched healthy control participants (aged 8-54 years).Main outcome measuresOculomotor tests of sensorimotor responses (saccades and smooth pursuit); procedural learning and response inhibition; neuropsychological tests of motor, memory, and executive functions; and psychological measures of social behavior, communication skills, and obsessive-compulsive behaviors.ResultsOn eye movement testing, family members demonstrated saccadic hypometria, reduced steady-state pursuit gain, and a higher rate of voluntary response inhibition errors relative to controls. They also showed lateralized deficits in procedural learning and open-loop pursuit gain (initial 100 milliseconds of pursuit) and increased variability in the accuracy of large-amplitude saccades that were confined to rightward movements. In neuropsychological studies, only executive functions were impaired relative to those of controls. Family members reported more communication abnormalities and obsessive-compulsive behaviors than controls. Deficits across oculomotor, neuropsychological, and psychological domains were relatively independent from one another.ConclusionsFamily members of individuals with autism demonstrate oculomotor abnormalities implicating pontocerebellar and frontostriatal circuits and left-lateralized alterations of frontotemporal circuitry and striatum. The left-lateralized alterations have not been identified in other neuropsychiatric disorders and are of interest given atypical brain lateralization and language development associated with the disorder. Similar oculomotor deficits have been reported in individuals with autism, suggesting that they may be familial and useful for studies of neurophysiological and genetic mechanisms in autism.
| S-EPMC3145411 | biostudies-literature
Project description:The aim of this study was to investigate and compare the inheritance pattern and prevalence of inheritable dental anomalies in a sample of patients with maxillary canine-first premolar transposition and their first-degree relatives with a sample of palatally displaced canine families. Thirty-five consecutive maxillary canine-first premolar transposition probands and 111 first-degree relatives were matched to 35 consecutive palatally displaced canine probands and 115 first-degree relatives. These were assessed for palatally displaced canines and incisor-premolar hypodontia. Parental age at birth of the proband was also noted. The results revealed that (i) there is no difference in the overall prevalence of palatally displaced canine or incisor-premolar hypodontia between the groups of relatives; (ii) first-degree relatives of bilateral palatally displaced canine probands have a higher prevalence of palatally displaced canine and incisor-premolar hypodontia than those with unilateral palatally displaced canine; and (iii) maternal age at birth of the maxillary canine-first premolar transposition probands was significantly higher than that of the palatally displaced canine probands. The results suggest that maxillary canine-first premolar transposition and palatally displaced canine are unlikely to be different genetic entities and also indicate environmental or epigenetic influences on dental development.
| S-EPMC4582555 | biostudies-literature
Project description:BackgroundCardiovascular screening is recommended for first-degree relatives (FDRs) of patients with dilated cardiomyopathy (DCM), but the yield of FDR screening is uncertain for DCM patients without known familial DCM, for non-White FDRs, or for DCM partial phenotypes of left ventricular enlargement (LVE) or left ventricular systolic dysfunction (LVSD).ObjectivesThis study examined the yield of clinical screening among reportedly unaffected FDRs of DCM patients.MethodsAdult FDRs of DCM patients at 25 sites completed screening echocardiograms and ECGs. Mixed models accounting for site heterogeneity and intrafamilial correlation were used to compare screen-based percentages of DCM, LVSD, or LVE by FDR demographics, cardiovascular risk factors, and proband genetics results.ResultsA total of 1,365 FDRs were included, with a mean age of 44.8 ± 16.9 years, 27.5% non-Hispanic Black, 9.8% Hispanic, and 61.7% women. Among screened FDRs, 14.1% had new diagnoses of DCM (2.1%), LVSD (3.6%), or LVE (8.4%). The percentage of FDRs with new diagnoses was higher for those aged 45 to 64 years than 18 to 44 years. The age-adjusted percentage of any finding was higher among FDRs with hypertension and obesity but did not differ statistically by race and ethnicity (16.2% for Hispanic, 15.2% for non-Hispanic Black, and 13.1% for non-Hispanic White) or sex (14.6% for women and 12.8% for men). FDRs whose probands carried clinically reportable variants were more likely to be identified with DCM.ConclusionsCardiovascular screening identified new DCM-related findings among 1 in 7 reportedly unaffected FDRs regardless of race and ethnicity, underscoring the value of clinical screening in all FDRs.
| S-EPMC10563038 | biostudies-literature
Project description:Nonmotor symptoms (NMS) are an important prodromal feature of Parkinson's disease (PD). However, their frequency, treatment rates, and impact on health-related quality of life (HRQoL) in the early motor phase is unclear. Rates of NMS in enriched at-risk populations, such as first-degree PD relatives, have not been delineated. We assessed NMS in an early cohort of PD, first-degree PD relatives and control subjects to address these questions. In total, 769 population-ascertained PD subjects within 3.5 years of diagnosis, 98 first-degree PD relatives, and 287 control subjects were assessed at baseline across the following NMS domains: (1) neuropsychiatric; (2) gastrointestinal; (3) sleep; (4) sensory; (5) autonomic; and (6) sexual. NMS were much more common in PD, compared to control subjects. More than half of the PD cases had hyposmia, pain, fatigue, sleep disturbance, or urinary dysfunction. NMS were more frequent in those with the postural instability gait difficulty phenotype, compared to the tremor dominant (mean total number of NMS 7.8 vs. 6.2; P < 0.001). PD cases had worse HRQoL scores than controls (odds ratio: 4.1; P < 0.001), with depression, anxiety, and pain being stronger drivers than motor scores. NMS were rarely treated in routine clinical practice. First-degree PD relatives did not significantly differ in NMS, compared to controls, in this baseline study. NMS are common in early PD and more common in those with postural instability gait difficulty phenotype or on treatment. Despite their major impact on quality of life, NMS are usually under-recognized and untreated.
| S-EPMC5034839 | biostudies-other
Project description:A number of vaccines have been developed and deployed globally to restrain the spreading of the coronavirus disease 2019 (COVID-19). The adverse effect following vaccination is an important consideration. Acute myocardial infarction (AMI) is a kind of rare adverse event after COVID-19 vaccination. Herein, we present a case of an 83-year-old male who suffered cold sweat ten minutes after the first inactivated COVID-19 vaccination and AMI one day later. The emergency coronary angiography showed coronary thrombosis and underlying stenosis in his coronary artery. Type II Kounis syndrome might be a potential mechanism, which is manifested as coronary thrombosis secondary to allergic reactions in patients with underlying asymptomatic coronary heart disease. We also summarize the reported AMI cases post COVID-19 vaccination, as well as overview and discuss the proposed mechanisms of AMI after COVID-19 vaccination, thus providing insights for clinicians to be aware of the possibility of AMI following COVID-19 vaccination and potential underlying mechanisms.
| S-EPMC10262047 | biostudies-literature
Project description:Deficits in GABAergic inhibitory neurotransmission are a reliable finding in schizophrenia (SCZ) patients. Previous studies have reported that unaffected first-degree relatives of patients with SCZ demonstrate neurophysiological abnormalities that are intermediate between probands and healthy controls. In this study, first-degree relatives of patients with SCZ and their related probands were investigated to assess frontal cortical inhibition. Long-interval cortical inhibition (LICI) was measured from the dorsolateral prefrontal cortex (DLPFC) using combined transcranial magnetic stimulation (TMS) and electroencephalography (EEG). The study presents an extended sample of 129 subjects (66 subjects have been previously reported): 19 patients with SCZ or schizoaffective disorder, 30 unaffected first-degree relatives of these SCZ patients, 13 obsessive-compulsive disorder (OCD) patients, 18 unaffected first-degree relatives of these OCD patients and 49 healthy subjects. In the DLPFC, cortical inhibition was significantly decreased in patients with SCZ compared to healthy subjects. First-degree relatives of patients with SCZ showed significantly more cortical inhibition than their SCZ probands. No differences were demonstrated between first-degree relatives of SCZ patients and healthy subjects. Taken together, these findings show that more studies are needed to establish an objective biological marker for potential diagnostic usage in severe psychiatric disorders.
| S-EPMC5378912 | biostudies-literature