نتایج جستجو برای: kyphoscoliosis
تعداد نتایج: 536 فیلتر نتایج به سال:
: Morquio syndrome is a progressive lysosomal storage disorder leading to accumulation of glycosaminoglycans in the soft tissue, cartilage, and bone causing skeletal dysplasia. We present four-year-old child diagnosed with right side inguinal hernia posted for herniotomy. He had large head short neck kyphoscoliosis. Pre-operative MRI whole spine shows hypoplastic dens canal stenosis, indenting ...
BACKGROUND Chromosomal region 7q21.3 comprises approximately 5.2 mega base pairs that include genes DLX5/6, SHFM1, and DYNC1I1 associated with split hand/split foot malformation 1. So far, there are reports of eight families with deletion of DYNC1I1 and preserved DLX5/6 associated with ectrodactyly. From these families, only three patients did not present ectrodactyly and, unlike our patient, n...
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...
BACKGROUND The kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA) (OMIM 225400) is a rare inheritable connective tissue disorder characterized by a deficiency of collagen lysyl hydroxylase 1 (LH1; EC 1.14.11.4) due to mutations in PLOD1. Biochemically this results in underhydroxylation of collagen lysyl residues and, hence, an abnormal pattern of lysyl pyridinoline (LP) and hydroxylysyl py...
Morquio syndrome, also described as Mucopolysaccharidoses (MPS) type IV A in literature, are rare progressive and autosomal recessive lysosomal storage diseases characterised by deficiency of enzymes N- acetyl-galactosamine-6-sulphate sulphatase beta-galactosidase that decreases the catabolism glycosaminoglycans (GAGs) cause accumulation soft tissue, bone cartilage giving rise to severe skeletal...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید