Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0700208 (scoliosis)
 8,574 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Cell culture studies were performed on members of a family in which two sisters, ages 9 and 12, have a similar disorder characterized clinically by severe scoliosis, joint laxity and recurrent dislocations, hyperextensible skin, and thin scars. The skin collagen from the sisters was markedly deficient in hydroxylysine, but other amino acids were present in normal amounts. Hydroxylysine in collagen from fascia and bone was reduced to a lesser extent. Since the most likely explanation for the hydroxylysine deficiency was a reduction in enzymatic hydroxylation of lysine residues in protocollagen, we measured the activity of lysyl-protocollagen hydroxylase in crude lysates of cultured skin fibroblasts. Enzyme activities in the two affected children were 14 and 10% of controls, whereas the activity was about 60% of normal in the mother, a pattern most consistent with autosomal recessive inheritance. The mutant enzyme demonstrated the same cofactor requirements as that from normal cells. Deficiency of lysyl-protocollagen hydroxylase is the first inborn error of human collagen metabolism to be defined at the biochemical level.
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PMID:Lysyl-protocollagen hydroxylase deficiency in fibroblasts from siblings with hydroxylysine-deficient collagen. 434 67

An autopsy case of 63-year old male of atypical mycobacteriosis with severe scoliosis was reported. He was diagnosed as atypical mycobacteriosis in 1981 and controlled by antimycobacterial treatment. But since 1989, dyspnea and sputum have been increasing, new abnormal shadow in company with progression of curvature of the scoliosis was revealed on the chest roentgenogram. In spite of various treatments for mycobacteriosis, he died of respiratory failure. The aggravation of this mycobacteriosis brought on advancement of malnutrition and impairment of cell mediated immunity. Findings of autopsy showed the remarkable chest wall deformity and tuberculous change of the lung parenchyma. In this case, chest deformity was thought as the major risk factor of onset of mycobacterial mycobacteriosis.
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PMID:[An autopsy case of atypical mycobacteriosis accompanied with chest wall deformity]. 830 19

A 16-year-old boy undergone on an "anterior release" surgery for severe scoliosis, since fever developed in the postoperative phase, a total dose of 3500 mg paracetamol was given during a 3-day period. Four days after the end of antipyretic medication, the patient became confused and icteric, later unconscious, and within 24 hours died from fulminant hepatic failure. Autopsy revealed a confluent centrolobular (zonal 3) liver cell necrosis definitely characteristic for paracetamol hepatotoxicity. The case history may illustrate that paracetamol may cause liver injury even in therapeutic doses, if certain risk factors are present. Such factors are malnutrition and starvation, that causing depletion of hepatic glutathione, can result in enhanced susceptibility to toxicity of the drug. Authors emphasize, that in the case they presented, the young patient was malnourished and in the postoperative period fasting, and only a moderate calorie intake was given via parenteral nutrition. All these circumstances may well explain the unexpected fatal complication.
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PMID:[Fatal acute liver damage caused by a therapeutic dose of paracetamol]. 971 51

As thalassemia patients age, bone disease becomes a serious cause of morbidity. The frequency and type of bone disease is affected by the underlying type of thalassemia and its treatment. Problems include rickets, scoliosis, spinal deformities, nerve compression, fractures and severe osteoporosis. In early stages, patients may be asymptomatic but can present with back pain, a limp, dyspnea, neurological emergencies, or sudden fractures. The etiologies are often multifactorial, culminating with increased bone resorption and remodeling. They include hormonal deficiency, bone marrow expansion, nutritional deficiency, or desferal toxicity. Particular risk factors include older patients, low baseline hemoglobin, delayed puberty, hormonal failure, and high iron stores. Nutritional deficiencies may further compound the patient's risk for bone disease. Increasing evidence suggests that these complications and their associated long-term morbidity can be prevented if an annual screening is done, followed by long-term intervention. Patients treated with amino biphosphonates inhibit bone resorption and may demonstrate rapid healing. Intra-nasal calcitonin has also been successful in treating osteopenia. Early use of estrogen and testosterone appears to markedly lower the risk for selective patients. Both transfused and non-transfused patients should be educated about risk factors and early symptoms. All patients should be screened annually for bone disease. Once adolescence occurs, annual testing in selected cases should include bone density studies with X-ray absorptiometry.
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PMID:The morbidity of bone disease in thalassemia. 966 56

Lung transplantation is indicated in certain patients with terminal pulmonary disease. We report a case in which a single lung (left) was transplanted to a 16-year-old girl with hemophilia B; she also suffered idiopathic pulmonary fibrosis and had a history of malnutrition, osteoporosis, severe scoliosis, hepatitis C positivity and recurrent bilateral pneumothorax. Treatment with pure factor IX was started the moment the donor lung was available and was continued for 37 days after surgery. Plasma levels of factor IX were kept at 100% during surgery and in the early postoperative period, and over 40% after that time. Correct hemostasis was thus achieved throughout the procedure, with no need for blood products. Patient outcome was satisfactory. The stay in the intensive care recovery ward was 17 days and discharge was 40 days after transplantation. We discuss aspects of hemophilia and lung transplantation, and the influence on malnutrition, chronic steroid treatment and osteoporosis.
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PMID:[Lung transplantation and hemophilia. Preoperative considerations]. 1130 40

All four of the muscle actins (skeletal, cardiac, vascular, and enteric) in higher vertebrates show distinct expression patterns and display highly conserved amino acid sequences. While it is hypothesized that each of the muscle isoactins is specifically adapted to its respective tissue and that the minor variations among them have developmental and/or physiological relevance, the exact functional and developmental significance of these proteins remains largely unknown. In order to begin to assess these issues, we disrupted the skeletal actin gene by homologous recombination. All mice lacking skeletal actin die in the early neonatal period (day 1 to 9). These null animals appear normal at birth and can breathe, walk, and suckle, but within 4 days, they show a markedly lower body weight than normal littermates and many develop scoliosis. Null mice show a loss of glycogen and reduced brown fat that is consistent with malnutrition leading to death. Newborn skeletal muscles from null mice are similar to those of wild-type mice in size, fiber type, and ultrastructural organization. At birth, both hemizygous and homozygous null animals show an increase in cardiac and vascular actin mRNA in skeletal muscle, with no skeletal actin mRNA present in null mice. Adult hemizygous animals show an increased level of skeletal actin mRNA in hind limb muscle but no overt phenotype. Extensor digitorum longus (EDL) muscle isolated from skeletal-actin-deficient mice at day 2 to 3 showed a marked reduction in force production compared to that of control littermates, and EDL muscle from hemizygous animals displayed an intermediate force generation. Thus, while increases in cardiac and vascular smooth-muscle actin can partially compensate for the lack of skeletal actin in null mice, this is not sufficient to support adequate skeletal muscle growth and/or function.
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PMID:Mice lacking skeletal muscle actin show reduced muscle strength and growth deficits and die during the neonatal period. 1213 99

Dysphagia and aspiration seem to be rare in Duchenne muscular dystrophy, but cachexia can be associated with early death. Commonly, weight loss can be attributed to inadequate caloric intake caused by loss of ability to self-feed and/or fatigue. Our objective was to determine whether scoliosis repair is associated with malnutrition. A retrospective chart review was undertaken of patients with Duchenne muscular dystrophy, including those who underwent operative repair of scoliosis. We identified nine boys who lost > 5% body weight within 12 months of surgery. Eight patients who gained weight after surgery and eight patients of comparable age who had no surgery served as control subjects. All patients had no change in biceps strength after surgery, but those who lost weight were unable to self-feed. We found that weight loss after surgery was associated with loss of self-feeding. We conclude that pre- and postoperative management of patients with Duchenne muscular dystrophy should include feeding evaluation and determination of postural changes.
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PMID:Postoperative malnutrition in Duchenne muscular dystrophy. 1266 33

Alterations in electrolyte homeostasis associated with major surgery, intravenous fluid therapy, malnutrition, and critical illness are common but usually non-specific. This case report describes the sudden onset of forceful rhythmic flexion movements in both lower limbs during scoliosis surgery in a 12-year-old paraplegic boy with spina bifida. These movements arose despite adequate depth of anaesthesia, complete neuromuscular blockade, and treatment of hypocalcaemia. They persisted post-operatively after reversal of neuromuscular blockade and emergence from anaesthesia. Hypomagnesaemia was identified and treated post-operatively which coincided with cessation of the movements. We deduce hypomagnesaemia to be the aetiology of this unusual clinical presentation. This report underscores the interdependency of Ca2+ and Mg2+ homeostasis in excitable tissues and emphasizes that abnormalities observed in each cation should not be considered independently. In the perioperative care of spinal fusion patients, hypocalcaemia is a well-recognised and understood complication.
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PMID:Acute hypomagnesaemia causing intra-operative lower limb movements in a paraplegic patient, despite full neuromuscular blockade. 1847 81

A preduodenal portal vein (PDPV) is known to be a rare cause of duodenal stenosis. We treated a 22-year-old male patient with malnutrition as a result of PDPV and a previously performed operation for scoliosis, who showed an improvement in quality of life after being treated with a combination of nutritional support and surgery. The patient with PDPV had been admitted to our department with duodenal stenosis, ranging from the first to third portions. He had suffered from vomiting since 1 year of age, and he developed malnutrition during the last 6-mo period after orthopedic surgery for scoliosis. The stenosis was related to both the PDPV and the previously performed operation for scoliosis. After receiving nutritional support for 6 mo, a gastrojejunostomy with Braun's anastomosis for the first portion and a duodenojejunostomy for the second and third portions were performed. The postoperative course was almost uneventful. Three months later, he was discharged and able to attend university. In patients with widespread duodenal stenosis, there may be a complicated cause, such as PDPV and duodenal stretching induced by previous spinal surgery.
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PMID:Duodenal stenosis resulting from a preduodenal portal vein and an operation for scoliosis. 1970 80

Cold-induced sweating syndrome (CISS), a rare autosomal recessive disorder, is genetically heterogeneous. Deficiency of the CRLF1 and the CLCF1 gene functions results in CISS1 and CISS2, respectively. So far, only a single patient with CISS2 has been reported. Here we describe four new cases of CISS, two additional patients with CISS2 (confirming locus heterogeneity) and two patients with CISS1. Their case histories are given in detail to emphasize the striking similarity of their presentation, which makes a clinical differentiation impossible. All four cases had a uniform presentation in the neonatal period, much like Crisponi syndrome - inability to suckle and swallow due to facial and bulbar weakness; excessive startle and trismus-like facial contractions when crying or being handled; apnoeic spells; episodic unexplained fevers (up to 41 degrees C) and associated seizures or even sudden death; erythematous skin rashes; and camptodactyly. Thus it is evident that Crisponi syndrome is the pediatric manifestation of both CISS1 and CISS2. Signs abate during infancy and most children have a normal psychomotor development. During the first decade all children develop scoliosis and abnormal sweating which is the most disabling symptom in adulthood. We report that cold-induced sweating can be effectively treated. Detailed clinical observations, correlated with the findings from basic science research, may serve to elucidate the role(s) of this important cytokine complex in embryonic and postnatal development.
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PMID:Cold-induced sweating syndrome: CISS1 and CISS2: manifestations from infancy to adulthood. Four new cases. 2040 Jan 19


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