Search results for "Family history"

La palabra en las maternidades: una aproximación a la psicología perinatal

2001

El reconocimiento del recién nacido como un ser interactuante con el medio físico y humano que lo rodea, implicó cambios en las conductas de los equipos de salud , a cargo de las unidades de internación neonatal. Los conceptos de interacciones precoces, de apego, de díada, de vulnerabilidad maternal, competencias conductuales del recien nacido, y su utilización reciente en el desarrollo de la psicología perinatal, marcaron una transformación en el enfoque de los distintos profesionales involucrados en el proceso del nacimiento. Por un lado, podemos decir que la medicalización del acto del nacimiento en la sociedad occidental ha permitido disminuír el riesgo morbi-mortalidad matern…

Clinical course of sly syndrome (mucopolysaccharidosis type VII).

2016

WOS: 000377110800007

Incidentalome in Neurogenetics: Pathogenic Variant of NSD1 in a Patient With Spinocerebellar Ataxia (SCA)

2018

Background: Genetic studies of late-onset sporadic ataxias (>40 years of age) are not routinely indicated. For unresolved cases, next-generation sequencing (NGS) tools, such as whole-exome sequencing (WES), are available for a definitive diagnosis.Case presentation: Our patient is a woman with a usual facial phenotype and anthropometry, who developed ataxia at 45 years of age, with no relevant family history and an initial clinical approach that ruled out common aetiologies. WES was performed when the patient was 54 years old. The results identified the heterozygous pathogenic variant c.248delA (p.N83MfsX4) in the nuclear receptor-binding SET domain protein 1 (NSD1; MIM 606681) gene (rel…

Benign nocturnal alternating hemiplegia of childhood

2018

Objective: To describe the clinical spectrum of benign nocturnal alternating hemiplegia of childhood (BNAHC) including long-term follow-up data of previously published cases and to propose an underlying genetic cause of this disorder. Methods: We studied the medical data of two novel patients, reviewed the literature on BNAHC, and gathered information of the most recent follow-up of published cases regarding the course of episodes, further development, attempted drugs, ancillary investigations, and sequelae. Results: All patients, i.e. two novel cases and twelve patients identified in the literature (13 boys, 1 girl, age at onset four months to three years), experienced episodes of hemipleg…

Genetic and constitutional factors are major contributors to substantia nigra hyperechogenicity

2017

9 páginas, 2 figuras, 4 tablas

Fabry disease and multiple sclerosis misdiagnosis: the role of family history and neurological signs

2018

Fabry disease (FD) is an X-linked inherited lysosomal storage disorder caused by a galactosidase A (a-gal A) deficiency. Central nervous system involvement and chronic white matter lesions are observed in both FD and multiple sclerosis (MS), which can confound the differential diagnosis. We analyzed the GLA gene, which encodes a-gal A, in 86 patients with clinical and neuroradiological findings consistent with MS to determine whether they had FD. We identified four women initially diagnosed with MS who had GLA mutations associated with FD. Our results indicate that family history besides neurological findings should be evaluated in patients with an uncertain diagnosis of MS. Also the involv…

2020

Background Nonimmune hydrops fetalis (NIHF) is still a challenging diagnosis. The differential diagnosis is extensive and the success of identifying a cause depends on the thoroughness of efforts to establish a diagnosis. For the early diagnosis of NIHF, a virtual gene panel diagnostic tool was developed. The female premature baby in question was delivered via emergency cesarean at 30 + 1 weeks of gestational age (GA) due to rapidly developing NIHF to a healthy mother. The family history was noncontributory. Methods DNA of the family was extracted and sequenced by the virtual hydrops panel with whole-exome sequencing. Results The hydrops panel revealed Noonan syndrome (NS) with a germline m…

Lipid lowering nutraceuticals in clinical practice: position paper from an International Lipid Expert Panel.

2017

1.1. Cardiovascular disease and dyslipidemia: prevalence and global economic impact Cardiovascular diseases (CVDs) are the leading cause of mortality worldwide, reaching 31% of deaths in 2012 [1]. In particular, atherosclerosis and ischemic heart disease (IHD) are the main causes of premature death in Europe and are responsible for 42% of deaths in women and 38% in men under 75 years old [2]. The global economic impact of CVD is estimated to have been US $906 billion in 2015 and is expected to rise by 22% by 2030 [3]. Cardiovascular diseases also represent the major cause of disability in developed countries. It has been estimated that their growing burden could lead to a global increase in…

Systematic ajmaline challenge in patients with long QT 3 syndrome caused by the most common mutation: a multicentre study

2016

Aims Overlap syndromes of long QT 3 syndrome (LQT3) and the Brugada syndrome (BrS) have been reported. Identification of patients with an overlapping phenotype is crucial before initiation of Class I antiarrhythmic drugs for LQT3. Aim of the present study was to elucidate the yield of ajmaline challenge in unmasking the Brugada phenotype in patients with LQT3 caused by the most common mutation, SCN5A-E1784K. Methods and results Consecutive families in tertiary referral centres diagnosed with LQT3 caused by SCN5A-E1784K were included in the study. Besides routine clinical work-up, ajmaline challenge was performed after informed consent. A total of 23 subjects (11 female, mean age 27 ± 14 yea…

Rural–urban differences in the long-term risk of colorectal cancer after adenoma removal: A population-based study

2013

Abstract Background We investigated the impact of municipality of residence on colonoscopic surveillance and colorectal cancer risk after adenoma resection in a French well-defined administrative area. Methods This registry-based study included all patients residing in Cote d’Or (n = 5769) first diagnosed with colorectal adenomas between January 1, 1990, and December 31, 1999. Information about colonoscopic surveillance and colorectal cancer incidence was collected until December 31, 2003. Results A rural place of residence reduced the probability of colonoscopic surveillance in men [HR = 0.89 (95%CI: 0.79–0.99), p = 0.041] and in patients without family history of colorectal cancer [HR = 0…