Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0013911 (emaciation)
 1,059 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report severe cases of pulmonary tuberculosis with respiratory failure who required mechanical ventilation. Of 99 patients with pulmonary tuberculosis admitted to Daido Hospital from November 1991 to November 1993, 6 patients had been mechanically ventilated. Four of these 6 patients were vagrants and had long delay from onset of the symptom to the admission. Chest X-rays of ventilated patients showed bilateral, extensive shadows consistent with those of typical pulmonary tuberculosis, and a large number of acid-fast bacilli were detected in their sputa. Though all ventilated patients except one HCV carrier had no underlying disease, they showed remarkable emaciation and malnutrition. They also showed weak PPD-skin reactions and reduced number of lymphocytes that suggested immunological disorders. Four cases have recovered, so we conclude that mechanical ventilation is necessary and useful for the treatment of severe cases of pulmonary tuberculosis.
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PMID:[Severe cases of pulmonary tuberculosis required mechanical ventilation]. 769 76

A 68-year-old man who worked as an editor was admitted to Aichi Medical University Hospital due to dyspnea on exertion and emaciation. The patient had noticed rapid weight loss during diet therapy for diabetes mellitus that started in the beginning of July, 1993. Laboratory examinations revealed elevated levels of LDH and amylase in serum. Ultrasonography disclosed minimal ascites. Dyspnea on exertion developed in September, 1993. Chest roentgenography showed diffuse bilateral small nodular or reticular opacities. CT-guided percutaneous needle aspiration was done and cytologic examination of a specimen of lung tissue revealed papillary adenocarcinoma. The diagnosis was bronchiolo-alveolar carcinoma. Serum levels of amylase were elevated. The amylase isozyme pattern was of the salivary type. Serum levels of CA19-9 and CEA were also elevated. The patient died of respiratory failure on December 4, 1993. Postmortem examination revealed diffuse small nodules in both lungs. Examination of the nodules showed bronchiolo-alveolar cell carcinoma. The tumor cells stained positively for amylase (salivary type, not pancreatic type) CA19-9, and CEA by the avidin biotin complex method, but they were immunohistologically negative for AFP. We conclude that this lung cancer produced amylase, CA19-9, and CEA. We know of only a few reports of cases in which lung cancer produced both amylase and CA19-9.
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PMID:[Diffuse bronchiolo-alveolar cell carcinoma that produced both amylase and CA19-9]. 921 68

We evaluated the cause of death in patients with pulmonary tuberculosis who died within one year after diagnosing as tuberculosis. Of 325 bacillary patients during the past seven years, 43 (13.2%) died within one year. Twenty-three patients (53.5%) died directly of tuberculosis. In this group, 13 patients died in emaciation state. Most of them were aged and under a poor nutritional condition. Some patients died in spite of improvement of tuberculosis. The fact indicates the need to detect tuberculosis as early as possible in elderly persons, and treatment should be initiated immediately. Eight patients died of respiratory failure and their chest X-ray film showed wade-spread tuberculosis. Seven of the patients died in spite of initiating treatment within one month after the onset of symptoms. This fact suggests the importance of regular check up by chest X-ray to detect tuberculosis early. Two patients died of massive hemoptysis. They had an episode of bloody sputum and the laboratory examination showed anemia. On the other hand, 20 patients died due to coexisting diseases unrelated to tuberculosis. Ten patients died of malignant diseases and most of them were lung cancer. Two patients died of hepatic failure possibly caused by the adverse reaction of TB chemotherapy. The interval between the onset of the treatment and death was less than a month, and the fact suggests the need to observe carefully for adverse reactions especially in the early stage of treatment.
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PMID:[Clinical evaluation on causes of death in patients with pulmonary tuberculosis who died within one year after diagnosing as TB]. 929 13

A 51-year-old man visited Okayama Rousai Hospital with the chief complaints of dyspnea and emaciation. His occupational history included 23 years as a hard-metal polisher for a shipyard. Physical examination disclosed digital clubbing and fine crackles audible in the inferior posterior lung fields. Laboratory examination revealed hypoxemia and a remarkably reduced vital capacity of the lungs. Chest x-ray films and computed tomograms disclosed interstitial pneumonia predominantly in the upper lung lobes. Lung fibrosis progressed rapidly, and the patient died of exacerbation of chronic respiratory failure 2 years after his first visit to our hospital. The histopathologic findings from tissue specimens obtained by open lung biopsy and necropsy revealed mixed patterns of atypical and usual interstitial pneumonia, but no giant cell interstitial pneumonia. X-ray analysis detected tungsten in the lung tissue and mediastinal lymph nodes, but no cobalt was found. The interstitial pneumonia observed in this patient was thought to be induced by the occupational inhalation of hard metal.
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PMID:[Interstitial pneumonia induced by the inhalation of hard metal]. 1054 Aug 37

We studied the causes of death in 295 patients (mean (+/- SD) age 70.5 +/- 13.2 y.o.) with active non-MDR pulmonary tuberculosis who died in our hospital between 1991 and 1999. A hundred and twenty eight patients (43.4%, group A) died of tuberculosis, while 167 patients (56.6%) of other accompanying diseases. In 46 patients of the latter (15.6%, group B), pulmonary tuberculosis gave an unfavorable impact on their clinical course. In these patients the extent of pulmonary tuberculosis on chest roentgenograph was similar with the remaining 121 patients who also died of the accompanying diseases (41.0%, group C) and was less severe than those of the group A patients. Their nutritional conditions measured by serum albumin and choline-esterase level on admission, however, were as low as those of the group A patients and distinctly worse than those of the group C patients. Most patients of groups A and B died within 3 months after admission, while less than half patients of group C died during the same period. The age frequency distribution of the patients in groups B and C had a single peak in the age group 70 to 89, while that in group A showed two peaks, one similar peak as in groups B and C, and another peak in the age group 50 to 59. The numbers of homeless patients, of the patients with extensive cavitary lesions, and of the patients who died of ARDS (Adult Respiratory Distress Syndrome) or severe pneumothorax in group A were the most also in the age group 50 to 59, indicating that the patients' delay in admitting to hospitals was the major cause of high motality in this age group. As to detailed causes of death in group A, patients died of respiratory failure (32 cases), emaciation (28 cases), progression of pulmonary tuberculosis (20 cases), ARDS (15 cases), tuberculosis-related diseases such as pneumothorax, hemoptysis, and DIC (24 cases). In groups B and C patients died of organ failure (36 cases), infectious diseases (33 cases) and malignancy (30 cases). The total number of died patients has increased, and the proportion of cases dying of ARDS and infectious diseases has increased statistically significantly recently.
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PMID:[The causes of death in patients with non-MDR pulmonary tuberculosis in our hospital]. 1121 78

Imidacloprid is newer systemic insecticide, a nicotine analogue, acts on the nervous system. Patient can present with variable manifestations like irritability, labored breathing, emaciation, twitching and delirium. Here we report a case presented with sever neuropsychiatric symptoms with respiratory failure following self ingestion of poison. Patient recovered with supportive and symptomatic treatment.
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PMID:Imidacloprid poisoning. 2233 78

Known disease mechanisms in mitochondrial DNA (mtDNA) maintenance disorders alter either the mitochondrial replication machinery (POLG, POLG2 and C10orf2) or the biosynthesis pathways of deoxyribonucleoside 5'-triphosphates for mtDNA synthesis. However, in many of these disorders, the underlying genetic defect has yet to be discovered. Here, we identify homozygous nonsense and missense mutations in the orphan gene C20orf72 in three families with a mitochondrial syndrome characterized by external ophthalmoplegia, emaciation and respiratory failure. Muscle biopsies showed mtDNA depletion and multiple mtDNA deletions. C20orf72, hereafter MGME1 (mitochondrial genome maintenance exonuclease 1), encodes a mitochondrial RecB-type exonuclease belonging to the PD-(D/E)XK nuclease superfamily. We show that MGME1 cleaves single-stranded DNA and processes DNA flap substrates. Fibroblasts from affected individuals do not repopulate after chemically induced mtDNA depletion. They also accumulate intermediates of stalled replication and show increased levels of 7S DNA, as do MGME1-depleted cells. Thus, we show that MGME1-mediated mtDNA processing is essential for mitochondrial genome maintenance.
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PMID:Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease. 2331 56

An elderly woman diagnosed with multiple myeloma (MM) in 2007 had improved with chemotherapy. She had severe kyphosis and a diaphragmatic hernia (DH), but no respiratory symptoms. In 2011, because of thoracic deformity and emaciation, we advised her to continue the previously prescribed domiciliary noninvasive positive pressure ventilation (NPPV) therapy for chronic type II respiratory failure. However, she refused to continue NPPV. She was later admitted for deterioration in respiratory status and carbon dioxide (CO2) narcosis. We believed her low adherence to domiciliary NPPV caused CO2 narcosis; hence, we advised her to continue domiciliary NPPV and she complied. In May 2012, the now 79-year-old patient was admitted for acute exacerbation of chronic respiratory failure and CO2 narcosis. Chest imaging suggested that DH had caused a deterioration of her status. She underwent laparoscopic diaphragmatic hernia repair. Operative findings revealed a retrosternal hernia sac, and she was diagnosed as having a Morgagni hernia (MH). Her respiratory status subsequently improved. We hypothesize that NPPV increased intra-abdominal pressure, thereby worsening the MH and exacerbating respiratory failure. We believe that clinicians should be cautious when prescribing NPPV for MH patients.
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PMID:Morgagni hernia with respiratory failure aggravated by noninvasive positive pressure ventilation: a case report and overview of the literature. 2485 23

We ascertained a child with early onset cerebellar ataxia and identified a novel frameshift deletion, c.359del [p. (Pro120Leufs*2), NM_052865.2] in exon 2 of MGME1 (mitochondrial genome maintenance exonuclease 1) by exome sequencing. Variations in MGME1 have been reported to cause mitochondrial DNA (mtDNA) depletion syndrome 11 (MIM #615084) in an earlier work. The phenotype included progressive external ophthalmoplegia, emaciation, respiratory failure and late onset progressive ataxia. However, the child presented here has early onset progressive ataxia, speech delay, microcephaly, cerebellar atrophy and fundus albipunctatus. This is the second report of a mutation in MGME1 and describes a more severe phenotype.
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PMID:Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxia. 2871 39

Mitochondrial nucleases play important roles in accurate maintenance and correct metabolism of mtDNA, the own genetic materials of mitochondria that are passed exclusively from mother to child. MGME1 is a highly conserved DNase that was discovered recently. Mutations in MGME1-coding gene lead to severe mitochondrial syndromes characterized by external ophthalmoplegia, emaciation, and respiratory failure in humans. Unlike many other nucleases that are distributed in multiple cellular organelles, human MGME1 is a mitochondria-specific nuclease; therefore, it can serve as an ideal target for treating related syndromes. Here, we report one HsMGME1-Mn2+ complex and three different HsMGME1-DNA complex structures. In combination with in vitro cleavage assays, our structures reveal the detailed molecular basis for substrate DNA binding and/or unwinding by HsMGME1. Besides the conserved two-cation-assisted catalytic mechanism, structural analysis of HsMGME1 and comparison with homologous proteins also clarified substrate binding and cleavage directionalities of the DNA double-strand break repair complexes RecBCD and AddAB.
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PMID:Structural insights into DNA degradation by human mitochondrial nuclease MGME1. 3024 21


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