Recurrent Ischemic Strokes due to Monogenic COL4A1 Mutation: The First Case Report from Latin America.

. Monogenic mutations as the cause of recurrent ischemic cerebral small-vessel disease with leukodystrophy are rare. COL4A1 gene mutations are a relatively new etiology of cerebrovascular lesions in young adults; however, any patient has been reported from Latin America.

Unraveling the role of relative telomere length and CAG expansion on initial symptoms of juvenile Huntington disease.

Background And Purpose: Juvenile-onset Huntington disease (JHD) is defined when symptoms initiate before 20 years of age. Mechanisms explaining differences between juvenile and adult onset are not fully understood. Our aim was to analyze the distribution of initial symptoms in a cohort of JHD patients and to explore its relationship with CAG expansion and relative telomere length (RTL).

circRNA Regulates Dopaminergic Synapse, MAPK, and Long-term Depression Pathways in Huntington Disease.

Huntington disease (HD) is the most common neurogenetic disorder caused by expansion of the CAG repeat in the HTT gene; nevertheless, the molecular bases of the disease are not fully understood. Non-coding RNAs have demonstrated to be involved in the physiopathology of HD. However, the role of circRNAs has not been investigated.

Telomere length analysis on leukocytes derived from patients with Huntington Disease.

Introduction: Huntington´s disease (HD) is a neurodegenerative disorder characterized by neuropsychiatric, motor and cognitive manifestations. It is caused by expansion of the trinucleotide CAG on HTT. The molecular bases are not completely understood, DNA damage, such as double and single strand breaks and oxidative stress (OS) have been implicated.

Maternal fat mass may predict overweight/obesity in non-instituzionalized women with intellectual disability.

Introduction: Previous studies have found a significant correlation between parents and offspring regarding overweight and obesity in general population at early life stages. However this issue has received no attention in people with intellectual disability (ID). Therefore, the present study was designed to find out potential correlations in overweight/obesity between young adult women with ID living in the family and their parents.

Central obesity measurements predict metabolic syndrome in a retrospective cohort study of postmenopausal women.

Introduction: The various diagnostic classifications in the literature concur as regards the important role of abdominal obesity in the onset and progression of metabolic syndrome. Accordingly, this study was aimed at clarifying whether central obesity measurements assessed by dual X-ray absorptiometry (DXA) may predict metabolic syndrome in Spanish postmenopausal women.

Material And Methods: This historical cohort study included a total of 1326 postmenopausal women aged > 45 years old who had routinely undergone DXA to measure their bone mineral density between January 2006 and January 2011.

[Reduction of exercise-mediated endothelial dysfunction markers in sedentary adults with chronic spinal cord injury].

Background And Objective: Recent studies have found increased markers of endothelial activation in men with chronic spinal cord injury. This study was conducted to determine the effects of arm-cranking exercise on endothelial dysfunction in male adults with chronic SCI.

Method: A prospective randomized study of 17 sedentary adult males with chronic SCI at or under T5 level.

[A short-term training program reduced acute phase proteins in premenopausal women with metabolic syndrome].

Introduction: It is accepted low grade systemic inflammation plays a key role in metabolic syndrome. Further, several studies have reported it may be considered a therapeutic target. Accordingly, this study was conducted to ascertain the impact of a short-term aerobic training program on acute phase proteins in women with metabolic syndrome.

[Aerobic training improves antioxidant defense system in women with metabolic syndrome].

A 12-week training protocol increased antioxidant defense system in young adult women with metabolic syndrome. It is generally accepted that oxidative stress is implicated in the pathogenesis of metabolic syndrome. Furthermore, recent studies have reported that stress may be acting as a therapeutic target in metabolic syndrome.

Clinical and molecular features of familial and sporadic cases of von Hippel-Lindau disease from Mexico.

Background: von Hippel-Lindau disease (VHL) is an uncommon autosomal dominant condition predisposing to the development of tumours in a variety of body organs and caused by germline mutations in VHL, a tumour suppressor gene located on 3p. Up to 60% of VHL patients show ocular involvement with retinal hemangioblastoma being the most common observed lesion. In this study, we describe the clinical and genetic characteristics of two familial and one apparently non-familial case of VHL ascertained at our institution.