Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A boy who had experienced generalized muscle weakness and hypotonia since early infancy was diagnosed as having nemaline myopathy on the basis of muscle biopsy at 3 years of age. At 8 years of age, he developed severe respiratory failure and required respiratory support during sleep. Because of recurrent pneumothorax, he underwent thoracic surgery, at which time biopsy specimens were obtained from the respiratory and truncal muscles. The histologic findings of the respiratory muscles included marked variation in fiber size with a notable increase in fibrous tissue, type 2 fiber deficiency, elevated acid phosphatase activity, and a disorganized intermyofibrillar network. The findings from the truncal muscles were similar to those of the biceps brachii muscle: little variation in fiber size, numerous nemaline bodies in all fibers, and type 1 fiber predominance. The preferential damage to the respiratory muscles was probably responsible for the sudden onset of severe respiratory failure.
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PMID:Respiratory muscle involvement in nemaline myopathy. 196 32

Transthoracic fine-needle biopsy (TFNB) is a valuable method of recognizing changes in lungs, especially suspected of cancer. Such operations are cheap, don't demand expensive instruments and are possible to perform in each pneumonology ward, especially if they are an ideal supplement for bronchofibroscoping examination. The possibility of quick and effective performance of transthoracic biopsy shortens the diagnostics considerably. From January 1997 to April 1999 there were performed 406 operations of TFNB. There were 334 people operated on (294 men--74.5%; 85 women--25.5%), average age for the whole group of patients--62.8 (+/- 10.4 years). The patients were divided into two groups considering hospitalization places: I--patients from (not transported for operation)--135 (40.4%), II--patients transported for operation from another hospitals--199 (59.6%) The examination was performed under control of rtg apparatus (7600 OEC Medical System with mobile x-ray tube on a C-arm and laser localizer). The usual complication was an pneumothorax--52 cases (12.8%); drained--16 cases (3.9%). An average depth of inserting in an early pneumothorax is 6.56 (+/- 0.73), in a late pneumothorax--8.6 cm (+/- 1.75), (p = 0.0015). An average depth of inserting in a drained pneumothorax was 8.9 cm (+/- 2.17), in a non-drained pneumothorax 7.7 cm (+/- 1.3) (p = 0.024). Patients that had to be transported for the operation had pneumothoraxes that needed to be drained considerably more often: 14 cases in 199 comparing to 2 in 135 among patients not demanding to be transported (p = 0.02). Pneumothoraxes appeared more often after indicating tumors of smaller size, from 3 cm--21.6%; 3.1-6 cm--13.3% (p = 0.036). From another complications one could notice: hemoptysis--4 cases; subcutaneous emphysema--1 case; fever and shivers--1 case; hypotonia--2 cases; cough--1 case. Those complications were treated symptomatically or vanished themselves.
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PMID:[Frequency of complications after transthoracic fine-needle biopsy of lung tumors]. 1177 Mar 9