Search results for "and Child Health"

Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies).

2000

Made available in DSpace on 2016-10-10T03:52:18Z (GMT). No. of bitstreams: 5 Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy.pdf: 167085 bytes, checksum: b445ec059ea2d0f06bd4fa913354872a (MD5) license_url: 52 bytes, checksum: 2f32edb9c19a57e928372a33fd08dba5 (MD5) license_text: 24259 bytes, checksum: f1f24f769b03eb8f9cd3f53c1090841c (MD5) license_rdf: 24658 bytes, checksum: 9d3847733d3c0b59c7c89a1d40d3d240 (MD5) license.txt: 1887 bytes, checksum: 445d1980f282ec865917de35a4c622f6 (MD5) Previous issue date: 2000 Dysferlin is the protein product of the gene (DYSF) that is defective in patients with limb girdle muscular dy…

Onychomadesis Outbreak in Valencia, Spain Associated with Hand, Foot, and Mouth Disease Caused by Enteroviruses

2011

This report evaluates the June 2008 onychomadesis outbreak in Valencia, Spain. The study sample consisted of 221 onychomadesis cases and 77 nonaffected individuals who lived close to those affected. We collected data on dietary variables, hygiene products, and individual pathological histories. Feces and blood specimens were collected from 44 cases and 24 controls to evaluate exposure to infectious agents. Pathological background data revealed a high frequency (61%) of hand, foot, and mouth disease among the onychomadesis cases. Coxsackievirus A10 was the most commonly detected enterovirus in both case and control groups (49%). Other enteroviruses such as coxsackieviruses A5, A6, A16, B1, a…

European Young Pediatricians Association: Laying the Foundations for Collaboration, Integration, and Networking among Pediatricians of the Future

2016

A 15-Year Perspective of the Fabry Outcome Survey

2016

Abstract The Fabry Outcome Survey (FOS) is an international long-term observational registry sponsored by Shire for patients diagnosed with Fabry disease who are receiving or are candidates for therapy with agalsidase alfa (agalα). Established in 2001, FOS provides long-term data on agalα safety/efficacy and collects data on the natural history of Fabry disease, with the aim of improving clinical management. The FOS publications have helped establish prognostic and severity scores, defined the incidence of specific disease variants and implications for clinical management, described clinical manifestations in special populations, confirmed the high prevalence of cardiac morbidity, and demon…

Radioimmunological determination of somatomedin B in healthy children and patients with HGH deficiency

1979

In 192 boys and girls, aging from 1 month to 16 years, serum somatomedin B levels were performed by radioimmunoassay of Kabi Inc., slightly modified. In girls the mean value increased from the 1 st. month at the end of the second year of live from 10.5±6.2 to 19.2±9.2 mg/1, in boys at the same time from 10±3.9 to 20.3±6.2 mg/1. The values decreased in girls in the following years up to the age of 14-16 years to 13.7±7.5 mg/1; in the boys to 11.5±4.2mg/1. The beginning of the decrease was in girls two years earlier than in boys. To these values of normal children were compared the values of 8 patients with HGH deficiency. The mean of these cildren was 4.2 mg/1, significantly below the values…

An experimental study on long term outcomes after magnetic esophageal compression anastomosis in piglets

2021

Abstract Background/Purpose Previous studies have shown that a patent, watertight esophageal anastomosis can be accomplished safely using specially-shaped magnets in piglets. However, it is unclear whether such a magnetic esophageal compression anastomosis (MECA) remains patent in the long-term. The purpose of this study was to evaluate the long-term outcome of MECA in an experimental pig model over an observation period of 2 months. Methods Ten piglets underwent creation of an MECA with custom-made 8 mm magnets and a U-shaped esophageal bypass loop to allow peroral nutrition at eight weeks of life. Two weeks later, the bypass loop was closed surgically, requiring the pigs to swallow via th…

Gastroesophageal reflux in young children treated for esophageal atresia: evaluation with pH-multichannel intraluminal impedance

2011

Objectives: Gastroesophageal reflux (GER) and dismotility occur frequently after repair of esophageal atresia (EA). GER-associated complications can manifest either early or later; then precocious diagnosis and treatment are essential. The aim of the study was to evaluate characteristics of GER and esophageal clearance in children treated for EA with distal tracheoesophageal fistula, using pH-multichannel intraluminal impedance (pH-MII). Patients and Methods: Twenty-two children (ages 3‐40 months) treated for EA at birth, and 20 normal children of similar age with suspected GER disease were included in the study. Impedance parameters were analyzed according to age and symptoms. Results: Ref…

Commonly occurring genetic polymorphisms with a major impact on the risk of nonsyndromic strabismus: replication in a sample from Finland

2022

PURPOSE To replicate associations between polymorphisms in the WRB and TSPAN10 genes and strabismus in an independent Finnish cohort and to calculate their population attributable risk. METHODS Polymorphisms in the WRB (rs2244352) and TSPAN10 (rs6420484) genes were investigated in individuals from the FinnGen study group who had one of three categories of strabismus, with clinical diagnoses of (1) "strabismus-all subtypes" (3,515 cases and 173,384 controls), (2) "convergent concomitant strabismus" (ICD-10 code H50.0; 737 cases and 170,976 controls), and (3) "divergent concomitant strabismus" (ICD-10 code H50.1; 1,059 cases and 170,976 controls). RESULTS The WRB polymorphism was associated w…

1712 Serum Electrolytes Variations in Treated Patients with Moderate Asthma Exacerbation

2012

Background Salbutamol induces stimulation of beta 2 -receptors resulting in hypokalemia. Corticosteroids also induce plasma electrolytes variations. Aims To identify blood electrolytes changes following low dose inhaled short-acting beta 2 -agonists; To evaluate if concomitant inhaled corticosteroids treatment can amplify serum electrolytes changes. Methods We analyzed all children admitted for moderate asthma exacerbation during 6 months period. Inclusion criteria: children between 5–18 years of age; PEF >50–75% of predicted value; serum electrolytes normal ranges. Exclusion criteria: previously treated patients with Salbutamol; Salbutamol hypersensitivity; asthma exacerbation severity lev…

Clinical and logopaedic results of simultaneous and sequential bilateral implants in children with severe and/or profound bilateral sensorineural hea…

2015

This article carries out a literature review of the advantages and limitations of the simultaneous bilateral cochlear implantation (SCI) compared to those of the sequential bilateral cochlear implantation (SBCI) and the unilateral cochlear implantation (UCI). The variables analysed in said comparison are: safety and surgical technique, SCI incidence, effectiveness, impact of the inter-implant interval, costs and financing, impact on brain plasticity, impact on speech and language development, main benefits, main disadvantages and concerns, and predictive factors of prognosis. Although the results are not conclusive, all variables analysed seem to point towards observable benefits of SCI in …