Introduction: AIDS-mortality remains unacceptably high in sub-Saharan Africa, largely driven by advanced HIV disease (AHD). We nested a study in an existing tuberculosis (TB) contact-tracing intervention (Xpatial-TB). The aim was to assess the burden of AHD among high-risk people living with HIV (PLHIV) identified and to evaluate the provision of the WHO-recommended package of care to this population.
View Article and Find Full Text PDFMutations in human collagen VI genes cause a spectrum of musculoskeletal conditions in children and adults collectively termed collagen VI-related myopathies (COL6-RM) characterized by a varying degree of muscle weakness and joint contractures and which include Ullrich Congenital Muscular Dystrophy (UCMD) and Bethlem Myopathy (BM). Given that collagen VI is one of the most abundant extracellular matrix proteins in adipose tissue and its emerging role in energy metabolism we hypothesized that collagen VI deficiency might be associated with alterations in adipose tissue distribution and adipokines serum profile. We analyzed body composition by means of dual-energy X-ray absorptiometry in 30 pediatric and adult COL6-RM myopathy patients representing a range of severities (UCMD, intermediate-COL6-RM, and BM).
View Article and Find Full Text PDFIntroduction: The Egen Klassifikation 2 Scale (EK2), expansion of the EK scale, assesses the functional capacity of people with spinal muscular atrophy (SMA) and Duchenne muscular dystrophy (DMD) that are in wheelchair phase. This version is more specific for SMA than its EK predecessor.
Aim: To examine the validity and reliability of the Spanish version of the scale as a tool for measuring the functional capacity in patients with DMD and SMA who are in wheelchairs.
Aim: To determine the frequency of fractures in patients with spinal muscular atrophy, their mechanism of production, age at appearance and functional repercussions.
Patients And Methods: Sixty-five patients with spinal muscular atrophy were studied. Cases of fractures diagnosed by means of X-rays were collected and the following parameters were analysed: type of spinal muscular atrophy, gait, age at the time the fracture occurred, mechanism of production, location, treatment applied and functional repercussion.
Introduction: The Egen Klassifikation (EK) scale is a questionnaire that assesses the functional capacity of people with Duchenne muscular dystrophy and spinal muscular atrophy who can't walk and use a wheelchair.
Aim: To translate and validate the scale for the Spanish population as a tool for measuring functional capacity in these patients.
Patients And Methods: We performed first a translation-back translation of EK in the Spanish population and subsequently practiced reliability study of Spanish translated version of the scale.
Background: Hypopituitarism has been widely described in adults after traumatic brain injury (TBI); however, the available data in paediatric populations are scarce. Here, we report the results of a prospective, long-term study in children, adolescents and young adults.
Study Group: Thirty-seven children (age, 2 months to 19·9 years) of 51 eligible patients were followed for 1 year.
Aims: This study was conducted with the aim of developing the Spanish version of the Hammersmith functional rating scale for children with spinal muscular atrophy (SMA), to establish the interobserver reliability and to adapt it to Spanish children with SMA types II and III.
Patients And Methods: We assessed 31 children with a mean age of 4.7 years (range: 2.
Objective: To measure muscle strength in patients with spinal muscular atrophy using a handheld dynamometer as an objective tool to evaluate the progression of disease and the outcome of therapeutic trials.
Design: Maximum voluntary isometric contraction was measured in a group of 24 patients aged 5-38 years with types II and III spinal muscular atrophy. Four muscle groups were examined.