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Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Four cases of congenital, hypotonic-sclerotic muscular dystrophy are presented. The patients showed clinically prominent features described by Ullrich, i.e. congenital muscle weakness, hypotonia, and hyperextensibility of distal joints, contractures of proximal joints, high-arched palate, hyperhidrosis, posterior protrusion of calcaneus, and no progression. Muscle biopsies revealed dystrophic changes. Ullrich suggested that this condition was a new entity, but the disease has received little attention. In the present cases superior intelligence and tendency to recurrent upper respiratory tract infections were stressed as characteristics of this disorder. Insufficient cellular immunity was suspected and this may contribute to the recurrent upper respiratory tract infections and pneumonia often observed. This disease is considered a distinct entity of multisystemic involvement inherited as an autosomal recessive trait.
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PMID:Congenital, hypotonic-sclerotic muscular dystrophy. 60 94

We report the case of a patient with confirmed Duchenne muscular dystrophy who lived a useful and improved life until age 34. He was first seen in our Muscular Dystrophy Clinic when he was 14; at that time he was functionally quadriplegic and required assistance for all activities of daily living. At age 17, ventilatory insufficiency developed and the patient was provided with a positive pressure device (mouthpiece) to augment his ventilation. A year later he learned the technique of glossopharyngeal breathing. After surviving acute pneumonia at age 24, he became a licensed real estate salesman and was married at age 29 to his attendant (the marriage ended in divorce). He eventually enrolled as a student at Ohio State University, lived on campus, and moved about in a powered wheelchair. He died an accidental death by drowning at age 34 when his wheelchair veered suddenly into a pond eight feet deep.
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PMID:Duchenne muscular dystrophy: a case with prolonged survival. 398 81

Charts of nine patients with Duchenne and one with Becker's muscular dystrophy who had undergone spinal fusion and Harrington rod insertion for scoliosis were reviewed retrospectively. The mean age was 15 years and mean angle of scoliosis was 69 degrees. Preoperative pulmonary function studies showed a restrictive defect with a mean vital capacity of 1.3 +/- 0.69 litres, 35 +/- 20 per cent of predicted value, 33 +/- 20 ml . kg-1 and a mean inspiratory capacity of 0.99 +/- 0.5 litres, 23 +/- 13 ml . kg-1. There were no anaesthetic complications during operation and obstructive cardiomyopathy, hyperpyrexia, hyperkalaemia and rhabdomyolysis were not problems. Succinylcholine was avoided. One patient developed an arrhythmia postoperatively and one patient whose postoperative problems included tracheostomy, pneumonia and sepsis could not be weaned from the ventilator and died 11 weeks after operation. As assessing risk and survival of the operation depends on objective pulmonary function, a vital capacity of at least 20 ml . kg-1 in the range of 30 per cent of predicted volume with an inspiratory capacity of at least 15 ml . kg-1 would appear to be adequate in patients with muscular dystrophy requiring Harrington rod insertion. Other factors including the rapidity of progression of the muscular disease, other respiratory and cardiovascular problems, and disease such as obesity should also be considered.
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PMID:Anaesthetic considerations in patients with muscular dystrophy undergoing spinal fusion and Harrington rod insertion. 707 3

Malnutrition is a serious threat to patients with neuromuscular disease and marginally-compensated respiratory muscle weakness. It causes atrophy of inspiratory muscles, further weakening them. It reduces respiratory drive, potentially aggravating respiratory failure, either directly or indirectly, by promoting atelectasis and pneumonia, and it contributes strongly to such patients' risk of infection, their most common cause of death. In treating such patients, it must be remembered that abrupt increases in nutritional support, particularly with high percentages of carbohydrates, will increase CO2 production, potentially worsening ventilatory failure. Certain selected neuromuscular disease patients benefit from specific nutritional treatments (carnitine for carnitine deficient patients, high-calorie diets for muscular dystrophy and acid-maltase deficiency). Finally, the amino acid, fat, and nucleic acid content of the diet affects the immune response in beneficial or harmful ways, that are just now being elucidate. The potential for useful nutritional interventions in patients with neuromuscular diseases has never looked better, but is not yet fully realized. The challenges for the future will be to work out the beneficial and harmful effects of the various nutrients in the various diseases, to find ways to rapidly identify patients who will benefit, and to determine the safest, least uncomfortable, and most effective methods of delivery of the required nutrients.
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PMID:Nutritional factors in the pathogenesis and therapy of respiratory insufficiency in neuromuscular diseases. 825 75

We report a female infant with non-Fukuyama-type congenital muscular dystrophy with merosin deficiency. She manifested marked hypotonia and muscle weakness from the neonatal period, with an elevated creatine kinase concentration. Her motor developmental milestones were markedly delayed; however, her intellectual development was normal. Although cranial computed tomography (CT) at 3 months of age was normal, subsequent CT at 16 months of age demonstrated diffuse, abnormal white matter lucencies. Muscle biopsy findings at 16 months of age were compatible with those of congenital muscular dystrophy. In addition, no muscle fibers were immunostained by the merosin antibody. The patient died of pneumonia at 23 months of age. These clinical symptoms and CT findings are similar to those described in patients with merosin-negative congenital muscular dystrophy in European countries.
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PMID:Merosin-negative non-Fukuyama-type congenital muscular dystrophy: a case report. 873 5

Myotonic dystrophy is a relatively common type of muscular dystrophy, associated with a variety of systemic complications. Long term follow-up is difficult because of the slow progression. The objective of this study was to determine survival, age at death and causes of death in patients with the adult-onset type of myotonic dystrophy. A register of myotonic dystrophy patients was set up in Southern Limburg (the Netherlands), using data longitudinally collected over a 47-year period (1950-97). Survival for 180 patients (from the register) with adult-onset type myotonic dystrophy was established by the Kaplan-Meier method. The median survival was 60 years for males and 59 years for females. Survival of the patients was also estimated from the age of 15 years to the ages of 25, 45 and 65 years and compared with the expected survival of age- and sex-matched birth cohorts from the normal Dutch population. The observed survival to the ages of 25, 45 and 65 years was 99%, 88% and 18% compared with an expected survival of 99%, 95% and 78%, respectively. Thus, survival to the age of 65 in patients with adult-onset myotonic dystrophy is markedly reduced. A weak positive correlation between the CTG repeat length and younger age at death was found in the 13 patients studied (r = 0.50, P = 0.08). The cause of death could be determined in 70 of the 83 deceased patients. Pneumonia and cardiac arrhythmias were the most frequent primary causes of death, each occurring in approximately 30%, which was far more than expected for the general Dutch population. In addition, we assessed mobility in the years before death in a subgroup of 18 patients, as a reflection of the long-term physical handicap in myotonic dystrophy patients. Half of the patients studied were either partially or totally wheelchair-bound shortly before their death.
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PMID:Age and causes of death in adult-onset myotonic dystrophy. 971 16

Effectiveness of treatment with domiciliary nocturnal noninvasive positive pressure ventilation is analyzed in a group of patients with chronic alveolar hypoventilation of different etiologies. It was applied with two levels of pressure (BiPAP) via nasal mask. Criteria for evaluation were symptomatology and improvement in gas exchange. Data were analyzed by Student t tests. A total of 13 patients were included, mean age 55.7 range 20 to 76 years (5 male 8 female). Main diagnosis was tuberculosis in 6, four of them having had surgical procedure (thoracoplasty 2, frenicectomy 1 and neumonectomy 1), myopathy 3 (myasthenia gravis 1, muscular dystrophy 1 and diaphragmatic paralysis 1), obesity-hypoventilation syndrome 1, escoliosis 1, bronchiectasis 1 and cystic fibrosis 1. These last two patients were on waiting list for lung transplantation. At the moment of consultation, the symptoms were: dysnea 13/13 (100%), astenia 13/13 (100%), hypersomnolency 10/13 (77%), cephalea 9/13 (69%), leg edema 6/13 (46%), loss of memory 6/13 (46%). Regarding gas exchange, they showed hypoxemia and hypercapnia. Mean follow up was of 2.2 years (range 6 months to 4 years). Within the year, all 13 patients became less dyspneic. Astenia, hypersomnolency, cephalea, leg edema and memory loss disappeared. Improvement in gas exchange was: PaO2/FiO2 from 269 +/- 65.4 (basal) to 336.7 +/- 75.3 post-treatment (p = 0.0018). PaCO2 from 70.77 +/- 25.48 mmHg (basal) to 46.77 +/- 8.14 mmHg (p = 0.0013). Ventilatory support was discontinued en 5 patients: three because of pneumonia requiring intubation and conventional mechanical ventilation, two of them died and one is still with tracheostomy; One patient with bronchiectasis and one with cystic fibrosis were transplanted. The remaining eight patients are stable. In conclusion, chronic alveolar hypoventilation can be effectively treated with domiciliary nocturnal noninvasive ventilation. Long term improvement in symptomatology and arterial blood gases can be obtained without significant complications.
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PMID:[Domiciliary noninvasive positive pressure ventilation in chronic alveolar hypoventilation]. 1118 89

Bordetella bronchiseptica are small, pleomorphic Gram-negative coccobacilli which are commensal organisms in the upper respiratory tract of many wild and domestic animals ('kennel cough' in dogs). While it is common for health care providers to ask about exposure to ill family/friends, most do not routinely inquire about the health or immunization status of household pets. We report two cases of B. bronchiseptica pneumonia in lung transplant recipients [cystic fibrosis (CF); ages 10 and 15 yr; one male] who contracted B. bronchiseptica from pet dogs. We compared their course and outcome to four children (two CF, one congenital heart disease and one Duchenne's muscular dystrophy; four males, age range 6 months to 14 yr) with B. bronchiseptica cultured from the respiratory tract. Two of the four patients also acquired their illnesses from pet dogs and two from unknown sources. One lung transplant recipient expired from progressive respiratory failure. We conclude that B. bronchiseptica can cause serious infections in both immunosuppressed and immunocompetent children. We speculate that a detailed history of exposure to ill pets (particularly dogs), and the immunization status of all pets should be included in the routine evaluation of all pediatric transplant recipients.
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PMID:Bordetella bronchiseptica infection in pediatric lung transplant recipients. 1473 6

We present a case of severe optic neuropathy following linezolid treatment, which led to complete irreversible blindness, in a patient with progressive muscular dystrophy, treated with linezolid for 16 days for methicillin-resistant Staphylococcus aureus (MRSA) pneumonia. Interruption of antibiotic therapy did not lead to remission of ocular symptoms. Administration of linezolid may lead to severe neuropathy even in the case of short-term treatment.
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PMID:Complete blindness after optic neuropathy induced by short-term linezolid treatment in a patient suffering from muscle dystrophy. 1699 49

We describe the epidemiology, clinical features, radiological findings, therapy and course for 15 patients hospitalized at the Infectious Diseases UOC of Gravina Hospital Caltagirone for a serious respiratory condition with verified infection A (H1N1) from 9 November to 22 December 2009. We retrospectively reviewed medical records, laboratory and instrumental tests performed on hospitalized patients. All patients had significant respiratory impairment: nine had co-morbidities and risk factors such as obesity, pregnancy, immunosuppressant conditions and muscular dystrophy. Symptoms were similar to those of seasonal influenza; radiological investigation of the chest (RX and CT) presents lung involvement in 80% of patients and changes in the bio-humoral indices. Development into acute respiratory distress syndrome (ARDS) was observed in six patients: three were ventilated with a Venturi mask, three were treated in intensive care and two patients used extracorporeal membrane oxygenation (ECMO). Two died. All patients received antiviral and symptomatic therapy for 5-21 days. A(H1N1) virus infection led to a mild to moderate flu syndrome, which was often cured by symptomatic treatment; some patients required hospitalization for viral pneumonia, mixed pneumonia or ARDS. In previous flu epidemics there was no development into ARDS (40% in our series).
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PMID:[Pulmonary complications from pandemic AH1N1 influenza: clinical-radiological features]. 2147 43


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