Search results for "Kyphoscoliosis"
showing 9 items of 9 documents
Total Hemi-overgrowth in Pigmentary Mosaicism of the (Hypomelanosis of) Ito Type: Eight Case Reports.
2016
Abstract Pigmentary mosaicism of the (hypomelanosis of) Ito type is an umbrella term, which includes phenotypes characterized by mosaic hypopigmentation in the form of streaks, whorls, patchy, or more bizarre skin configurations (running along the lines of Blaschko): these cutaneous patterns can manifest as an isolated skin disorder (pigmentary mosaicism of the Ito type) or as a complex malformation syndrome in association with extracutaneous anomalies (most often of the musculoskeletal and/or nervous systems) (hypomelanosis of Ito). Affected individuals are anecdotally reported to have also partial or total body hemi-overgrowth (HOG), which often causes moderate to severe complications. We…
HETEROGENEITY OF METATROPIC DYSPLASIA
1983
Metatropic dysplasia is a neonatally manifest entity that is characterized clinically by a rapidly progressing kyphoscoliosis leading to severe shortening of the originally long trunk ("metatropism"). Major radiographic features include flattening and defective ossification of the vertebral bodies, a narrow thorax and a marked hypoplasia of the basilar portions of the ilia with crescent-shaped iliac crests. There is some evidence of genetic heterogeneity. From five personal observations and from a review of the literature we conclude that metatropic dysplasia comprises at least three genetic entities: (1) a nonlethal type with autosomal recessive transmission; (2) a nonlethal dominant type …
Kyphoscoliosis ventilatory insufficiency: noninvasive management outcomes.
2000
Objective: To determine the effects on symptoms, pulmonary function, sleep, and other clinical variables of treating kyphoscoliosis-associated chronic alveolar hypoventilation with nocturnal nasal ventilation. Design: Sixteen patients with kyphoscoliosis were treated with nocturnal nasal ventilation delivered by volume-cycled (seven patients) and pressure-cycled (nine patients) ventilators. Dyspnea, morning headaches, fatigue, hypersomnolence, and perceived sleep quality were assessed. Results: All pretreatment symptoms improved significantly with nasal ventilation. Likewise, Pao 2 (mm Hg), Pao 2 /Fio 2 , Paco 2 (mm Hg), pH, and forced vital capacity (in milliliters and as a percentage of p…
Health status of young children with cancer following discontinuation of therapy.
1987
This paper reports late effects and health status of 198 children who had cancer or leukemia diagnosed under 2 years of age and their therapies electively withdrawn. This series (92 neuroblastoma (NBL), 57 Wilms' tumor (WT), 46 acute lymphoblastic leukemia (ALL), and 3 non-Hodgkin's lymphoma) was followed for 1-12 years after discontinuation of therapy. Thirty-three children were diagnosed before 1973, 92 between 1973 and 1977, and 73 after 1977 in 16 Italian Pediatric Oncology Centers. As of December 1983, 176 children were reported to be alive and without evidence of primary cancer by physicians responsible for their care. One child died from a second primary tumor, two from late recurren…
Noninvasive Ventilatory Assistance During Exercise for Patients with Kyphoscoliosis
2007
The goal was to determine whether noninvasive ventilatory assistance (NIV) could facilitate exercise performance and benefit physiologic parameters for eight hypercapnic kyphoscoliosis patients using a cycloergometer for 6-min periods at a constant power (20 W). The exercise protocols were performed in random order while breathing unaided (spontaneous breathing test or SBT) and also while receiving NIV (NIV test or NIVT). The NIV was pressure support (15 cm H2O) plus positive end expiratory pressure (PEEP) (4 cm H2O) via a nasal mask. Of the compared parameters, heart rate was not significantly different, but acidosis (pH = 7.32 +/- 0.04 vs. 7.36 +/- 0.04), hypoxia (PaO2 = 61.5 +/- 15.9 vs.…
Chronic idiopathic hyperphosphatasia with unusual dental findings: a case report
2012
Chronic idiopathic hyperphosphatasia(CIH) or juvenile Paget disease is believed to be a distinct disease characterized by an increase in the serum alkaline phosphatase, cortical thickening and bowing of the long bones, especially the femora. It is a rare autosomal recessive bone disorder, with excessive bone resorption and bone formation. Skeletal malformations in the legs may cause problems in walking and may eventually result in short stature. The radiographic appearances include widening of the diaphyses, vertebral osteoporosis, acetabular protrusion, and thickening of the skull vault. Intensive bisphosphonate treatment prevented the development of deformity and disability but there is n…
Kyphoscoliotic Ventilatory Insufficiency
2003
Objectives: To determine the effects of long-term nocturnal intermittent positive-pressure ventilation (NIPPV) on symptoms, pulmonary function test results, sleep, and respiratory muscle performance in patients with ventilatory insufficiency due to severe kyphoscoliosis. Design: A prospective study in which 16 severe kyphoscoliotic patients were treated with NIPPV delivered by volume-cycled and pressure-cycled ventilators, over a period of 36 months. Interventions and measurements: At baseline, pulmonary function tests, blood gas measurements, polysomnography, and respiratory muscle strength (measured by noninvasive indexes) were obtained. Symptoms and the number of hospitalizations in the …
Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy.
2014
Objective: To clarify the phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathies. Methods: We screened for TRPV4 mutations in 169 French unrelated patients with inherited axonal peripheral neuropathy. Ninety-five patients had dominant Charcot-Marie-Tooth type 2 (CMT2) disease, and 74 patients, including 39 patients with distal hereditary motor neuropathy, 14 with congenital spinal muscular atrophy and arthrogryposis, 13 with CMT2, and 8 with scapuloperoneal spinal muscular atrophy, presented with additional vocal cord paralysis and/or skeletal dysplasia. Results: No deleterious TRPV4 mutation was identified in the 95 patients with “pure” CMT2 (0/…