Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0034067 (emphysema)
 11,506 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We herein describe a 16-year-old boy with pneumomediastinum, pneumothorax, and subcutaneous emphysema as the initial symptoms of dermatomyositis (DM). His pneumomediastinum disappeared after strict bed rest and he was thereafter successfully treated with oral prednisolone and cyclosporine A. His condition was further complicated with mild interstitial lung disease, arrhythmia, and skin ulcers on his fingertips, right elbow, ear, and sacral region. Pneumomediastinum is a rare complication of DM and its pathogenesis remains unclear. We review the literature and discuss the possible mechanism of this disease.
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PMID:A case of dermatomyositis complicated with pneumomediastinum. 1743 73

We report a case of an iatrogenic tracheal rupture following an endotracheal intubation. The 78-year-old patient was admitted to the intensive care unit because of an acute respiratory failure related to a severe nosocomial pneumonia occurring 21 days after an abdominal aorta surgery. His main antecedent was a cigarette smoke-induced chronic obstructive pulmonary disease. Immediately after being intubated, a traumatic tracheobronchial rupture was suspected because of the sudden appearance of cervicothoracic subcutaneous emphysema. A thoracic computed tomography with multiplanar reformations confirmed the diagnosis and the evolution was unfortunately rapidly unfavourable. Risk factors, clinical and radiological aspects, and management of this rare but serious complication of endotracheal intubation will be discussed.
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PMID:[Tracheal rupture after orotracheal intubation in intensive care]. 1876 Aug 94

A 60-year-old man presented to the Emergency Department (ED) with large, painful, indurated plaques on the right thigh, left abdomen, left chest, and right chest, which began without any preceding trauma on the right thigh 3 weeks prior to presentation in the ED. He was initially treated with cefazolin 1 g three times daily as home infusions. When the lesions continued to progress, he was admitted to the hospital and placed on amoxicillin/clavulanate and vancomycin. He had a single episode of fever of 102 degrees F, but his white blood cell count and differential remained normal. An initial biopsy showed a dermal inflammatory infiltrate composed primarily of neutrophils and eosinophils with rare flame figures in the dermis. There was minimal fat seen in this biopsy. A differential diagnosis of Wells or Sweet's syndrome was entertained, and he was placed on 60 mg/day prednisone with no resolution of his symptoms. The patient's past medical history included hypertension, hyperlipidemia, peripheral neuropathy, and hiatal hernia. His family history was significant for emphysema in both parents and coronary artery disease in his father. Both of his parents smoked cigarettes. His grandfather, who was a coal miner, also had emphysema. Whilst on antibiotics and prednisone, the plaques on the patient's right thigh, right abdomen, and left chest expanded and ulcerated, draining an oily liquid (Figs 1 and 2). An incisional biopsy was obtained from his thigh. Histopathology showed a septal and lobular panniculitis with fat necrosis, neutrophils, and histiocytes (Fig. 3). Special stains for organisms were negative. Tissue sent for bacterial and fungal culture had no growth. Amylase and lipase levels were normal. Rheumatoid factor, antinuclear antibody (ANA), antineutrophil cytoplasmic antibody (ANCA), cryoglobulins, and antiphospholipid antibodies were all normal. The alpha1-antitrypsin level was low at 25 mg/dL (ref. 75-135). The alpha1-antitrypsin phenotype was PiZZ. The patient had a normal glucose-6-phosphate dehydrogenase level and was placed on dapsone 200 mg/day. The inflammation resolved and, over the course of several months, the involved areas healed with scarring. The patient denied any pulmonary complaints but, during his hospitalization, was found incidentally to have an oxygen saturation of 88% on room air. He was sent for evaluation by a pulmonologist, and pulmonary function tests revealed a mixed restrictive and obstructive pattern with a forced expiratory volume in 1 to forced vital capacity (FEV(1)/FVC) ratio of 63% of predicted. He had never smoked. He was placed on supplemental oxygen but, as his pulmonary disease has been stable, he has not been treated with intravenous antitrypsin inhibitor.
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PMID:alpha1-Antitrypsin deficiency presenting with panniculitis and incidental discovery of chronic obstructive pulmonary disease. 1791 Jul 20

We describe the case of a 24-year old male who had been a heavy smoker since the age of 9 and who presented with an 8-year history of respiratory symptoms. He was having treatment for asthma. Spirometric studies and high-resolution computed tomography (HRCT) scans confirmed COPD with centrilobular emphysema. His blood level of alpha-1-antitrypsin was within the normal range. Early onset emphysema in smokers with a normal alpha-1-antitrypsin has been previously described. However, this case is, as far as we know, one of the youngest cases ever reported.
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PMID:A 24-year old man with persistent progressive breathlessness: early onset COPD. 1804 95

We report an adolescent with recurrent bilateral parotitis with pneumoparotitis and subcutaneous emphysema due to self pneumoinsufflation by a Valsalva like maneuver. Investigations for recurrent parotitis did not yield any clue. His la belle indifference, prolonged school absence and the presence of sibling rivalry helped us identify the psychological cause.
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PMID:Pneumoparotitis with subcutaneous emphysema. 1825 May 10

Pneumomediastinum is a rare complication of dermatomyositis (DM) and Polymiositis (PM). We report here three cases of PM/DM who developed pneumomediastinum. First case was 61 years old woman with amyopathic dermatomyositis (aDM). Her aDM was complicated with skin ulceration due to vasculopathy, but complicated interstitial pneumonia was not severe. She developed subcutaneous emphysema and pneumomediastinum. Second case was 57 years old woman with DM, who had intractable skin phenomena and mild interstitial pneumonia. The patient became subcutaneous emphysema and pneumomediastinum following severe vasculopathy of skin. The last case was 63 years old man with PM. His PM was complicated with interstitial pneumonia. He had intractable respiratory symptom. Ten years later, he became subcutaneous emphysema and pneumomediastinum following pneumothorax. First and second cases suggest that their pneumomediastinum were due to vasculopathy. On the other hand, pneumomediastinum of the last patient seemed to be associated with interstitial pneumonia and steroid.
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PMID:Three cases of polymyositis/dermatomyositis complicated by pneumomediastinum. 1831 Oct 43

A 69-year-old man afflicted with alcoholic liver cirrhosis complained of dyspnea on effort. His chest CT shows moderate emphysema, and no vascular dilation. An intrapulmonary shunt study using 99mTc-MAA revealed 43% shunt to whole body. Hepatopulmonary syndrome was diagnozed, and he was treated with home oxygen therapy. There is a possibility that the chest CT of patient with hepatopulmonary syndrome complicating emphysema shows no vascular dilation.
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PMID:[Case of hepatopulmonary syndrome with no vascular dilation in chest CT]. 1859 92

The identification of a Btk mutation in a male patient with <2% CD19(+) B cells warrants making the diagnosis of X-linked Agammaglobulinemia (XLA). Herein we report the case of a 31 year-old male with a gradual decline of peripheral B lymphocytes and low IgA and IgM but normal IgG levels. His clinical history revealed recurrent respiratory and skin infections, sclerosing cholangitis and chronic obstructive pancreatitis. Molecular studies revealed a novel aminoacidic substitution in Btk protein (T316A). His mother, maternal aunts and a maternal female cousin were heterozygotes for the same Btk mutation and were variably affected with pulmonary emphysema. This is a puzzling case where the patient's clinical history and laboratory findings divorce molecular genetics. Either this case confirms the variable expressivity of XLA disease or the T316A change in Btk SH2 domain is a novel non-pathogenic mutation and another unknown gene alteration is responsible for the disease.
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PMID:Identification of a Btk mutation in a dysgammaglobulinemic patient with reduced B cells: XLA diagnosis or not? 1861 43

We reported a case of overlap syndrome involving severe obstructive sleep apnea syndrome (OSAS) associated with chronic obstructive lung disease (COPD). This patient was a 52-year-old heavy smoking man, who had suffered from snoring and apnea for five years, and was admitted to our hospital because of worsening dyspnea. His BMI was 25 Kg/M2, His jaw was very small and he had a narrow upper airway. Chest X-ray showed hyperlucency throughout both lung fields with a markedly dilatation pulmonary arteries. His PaO2 was 62Torr, PaCO2 was 47Torr, FEV(1.0%) was 59%, mean pulmonary artery pressure was 27 mmHg, PSG showed that AHI was 70, were most pronounced during rapid eye movement sleep. He was given a diagnosis of overlap syndrome of OSAS associated with COPD. Generally, Overlap syndrome was believed that chronic bronchitis type (blue bloater) was more frequent than emphysema type. This case was a very rare case, with no obesity, moderate COPD, associated with pulmonary hypertension and hypercapnea, and then to be severe OSAS. However we should be more careful about the OSAS associated with overlap syndrome of the Japanese patients, because to be one factor of exacerbation of respiratory failure.
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PMID:[Overlap syndrome involving obstructive sleep apnea syndrome associated with chronic obstructive pulmonary disease]. 1878 39

A 68-year-old man with emphysema was admitted with cough and bloody sputum. Chest radiography revealed infiltrative shadows in the right upper lung. Microbiologically, an acid-fast bacillus was detected in the culture of sputum (Gaffky (+)), but both tuberculosis bacillus (TB) and Mycobacterium avium complex (MAC) were negative by the PCR method. Combination chemotherapy, which included isoniazid, rifampicin, ethambutol and pyradinamide, was initiated under a tentative diagnosis of TB. His clinical symptoms and radiographic findings improved. After 4 months, the strain of acid-fast bacilli was identified as Mycobacterium xenopi by DNA-DNA hybridization (DDH) method. However, analysis of base sequences from sputum samples using 16S rDNA confirmed the identity of all tested isolates as Mycobacterium heckeshornense. M. heckeshornense could not be identified by the DDH method in Japan. When M. xenopi is detected, it is essential to perform both sequencing of 16S rDNA and a biochemical method for the purpose of distinguishing M. heckeshornense from M. xenopi.
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PMID:[A possible case of pulmonary infection due to Mycobacterium heckenshornense]. 1919 4


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