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 case of neonatal Marfan syndrome is presented. The patient was noted to have cardiomegaly and tricuspid regurgitation on antenatal ultrasound scan. She was born with long, slender fingers and toes, an aged appearance and non-paralytic hypotonia. Echocardiogram revealed a dilated right atrium, right ventricle, dysplastic tricuspid valve and severe tricuspid regurgitation. She subsequently died of severe heart failure. Post-mortem examination showed the pathological features of lobar emphysema and cystic medial necrosis of the aorta. These features supported the diagnosis of neonatal Marfan syndrome. Nucleotide sequencing showed substitution of G by A at codon 1032 in exon 25 located in the long arm of chromosome 15. This resulted in the substitution of a cysteine by a tyrosine. A de novo mutation is suggested by the absence of affected family members.
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PMID:Neonatal Marfan syndrome: a case report. 1040 62

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