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Query: UMLS:C0032285 (pneumonia)
 54,520 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hereditary mucoepithelial dysplasia is an autosomal, dominantly inherited disorder affecting all of the orificial mucosa with cataracts, follicular keratosis of skin, nonscarring alopecia, bouts of pneumonia, spontaneous pneumothorax, and terminal cor pulmonale. The oral lesion is a fiery red, flat or micropapillary-appearing mucosa most frequently involving the gingiva and hard palate. All oral and pharyngeal mucosa may be involved, however. Red scrotal mucosa of the tongue is common. Histologically, the oral mucosa shows a lack of cornified and keratinized cells, a decrease in the thickness of the epithelial cell layer, dyshesion, and dyskeratosis. Papanicolaou smears show lack of epithelial cell maturation, poikilocytosis, anisocytosis, large paranuclear cytoplasmic vacuoles, and cytoplasmic strand-shaped inclusions. Ultrastructural features include a paucity of desmosomes, intercellular accumulations of amorphous material, cytoplasmic vacuoles, and paranuclear lesions with strands of material resembling gap junctions and desmosomes. The condition most likely represents a basic defect in gap junction and desmosome formation.
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PMID:Clinical, histologic, cytologic, and ultrastructural characteristics of the oral lesions from hereditary mucoepithelial dysplasia. A disease of gap junction and desmosome formation. 21 54

75 out of 77 children surviving IRDS with the aid of intermittent positive pressure ventilation have been followed up by age 2.6-7.6 years together with 68 matched controls. The morbidity of lower respiratory tract illnesses was significantly higher in IRDS survivors than in controls affecting a total of 48%, half whom were admitted to hospital on at least on occasion. Only 3 IRDS survivors had pneumonias beyound their third year, however. One child suffered from a moderate stridor due to a partial laryngeal stenosis and one from some dyspnoea at function caused by broncho-pulmonary dysplasia. Thoracic X-ray changes were found significantly more often and more marked in IRDS survivors but on the whole the changes were discrete. Neither the occurrence of pneumonia nor X-ray changes in the IRDS survivors were statistically relatable to a number of neonatal or therapeutical characteristics. Measurements of heart volume, respiratory frequency, oxygen saturation and acid-base values did not differ between the groups. Ventilated IRDS survivors, even with some degree of radiographic demonstrable residua, thus seem to have a good long-term prognosis with regard to lung function, irrespective of a preliminary high morbidity of lower respiratory tract illnesses.
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PMID:Long term prognosis of infants with severe idiopathic respiratory distress syndrome. II. Cardio-pulmonary outcome. 34 87

Report on a 17 months old boy with the minor form of asphyxiating thoracic dystrophy. The clinical picture is characterized by a rigid, narrow, and extended thorax and by dyspnea and tendency to develop pneumonitis during early infancy. Later on there is gradual improvement by increase of the thoracic volume. At the age of 17 months there are no more radiographic pelvic deformities which the infant had initially. Up to now the boy shows no skeletal changes of the hands, and no symptoms of renal involvement frequently developing in this disease. Since the a. th. d. is inherited by an autosoma recessive gene, the recognition also of the minor forme is important for genetic counseling. The differentiation between the a. th. d. and the chondroektodermal dysplasia Ellis-van Crefeld is discussed.
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PMID:[Asphyxiating thoracic dystrophy (author's transl)]. 55 76

Two siblings with marked dwarfism, now 11 and 19 years of age, have been followed from infancy. The girl had frequent episodes of pneumonitis and presented at age 4 years with hepatic enlargement and ascites which proved to be due to constrictive pericarditis. The boy presented with growth failure and pseudohydrocephalus. He had fibrous dysplasia of the tibia and a pathologic fracture; acute hepatic congestion followed physical activity at age 13 years and led to the diagnosis of constrictive pericarditis. Muscle function was normal, there was no evidence for a primary liver disorder, and mental development was normal so that the coined word "mulibray" seemed inappropriate. Pericardiectomy produced only partial improvement; both patients have hepatic enlargement and continue to need diuretics. A third patient with dwarfism, frequent respiratory infections, and pericardial calcification has certain features of the syndrome.
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PMID:Constrictive pericarditis with dwarfism in two siblings (mulibrey nanism). 125 13

Alagille's syndrome or arteriohepatic dysplasia has been described in Cuba in nine patients between nine months and 12 years of age (8 males and one female). Among the clinical features we found five major abnormalities: chronic cholestasis with neonatal jaundice (9/9), peculiar facies (9/9), peripheral pulmonary artery hypoplasia associated with cardiac murmur (6/9), butter-fly-like arch defects (4/9), and posterior embryotoxon (6/7). Two children had a severe xanthomatosis. Laparoscopy showed green hepatomegaly depending on the degree of cholestasis, and only one patient had incipient signs of micronodular cirrhosis. Liver histology showed a paucity of interlobular bile ducts. Survival was of 60%. One patient survived more than 30 years. Four patients died of liver carcinoma (unique report in infants), broncho-pneumonia, acute renal failure, and sudden death respectively. Among the minor features were mental retardation (5/9), a peculiar voice (3/9), growth retardation observed in some of our patients. This is the first report on Alagille's syndrome in Latin America, because so far reports have come only from Europe and North America.
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PMID:[Alagille's syndrome in Cuba. A report of 9 cases]. 134 Aug 42

A 64-year-old male was admitted in September 1989 with complaints of fever and muscular weakness in the extremities. A peripheral blood examination on admission revealed WBC 10,300/microliters (monocytes 32%), RBC 195 x 10(4)/microliters, Hb 7.9 g/dl, Plt 12.8 x 10(4)/microliters with trilineage dysplasia. Bone marrow biopsy was normoplastic marrow with 25.7% of monocytes including immature blasts. Cytochemical analysis of the monocytes showed positive for peroxidase and dual esterase staining. Chromosomal analysis of peripheral blood revealed 46, XY, -7, +der(1) t(1;7)(p11;p11). A diagnosis of chronic myelomonocytic leukemia was made. Hemostatic studies revealed cryofibrinogenemia, marked platelet aggregation on blood smear, hyperfibrinogenemia and a marked increase in maximal amplitude of thrombelastogram. Treatment with prednisolone and VP16, resulted in a reduction of peripheral monocytes and a disappearance of cryofibrinogen, marked platelet aggregation and a decrease in muscular weakness. Nine months after diagnosis he died of DIC, pneumonia, lung abscess and sepsis.
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PMID:[Chronic myelomonocytic leukemia associated with translocation 1;7, marked platelet aggregation and cryofibrinogenemia: a case report]. 163 20

POEMS (acronym for polyneuropathy, organomegaly, endocrinopathy, M protein and skin changes) is a very rare syndrome probably related to plasma cell dyscrasia. A 43 year old man developed a progressive symmetric sensory motor polyneuropathy 2 years before admission. Hepatosplenomegaly and sclerodermatoid skin changes were present on physical examination. A sclerotic lesion of the right femur was disclosed by radiologic examination. Serum immunoelectrophoresis demonstrated a monoclonal protein IgG-lambda pattern and the bone marrow biopsy revealed an increased plasma cell count (15%). The patient died 7 months after admission from pneumonia. A review of the literature is included.
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PMID:[Poems syndrome: review of a case]. 184 55

Fifty six children with a birth weight of less than 1500 g and gestational age less than 34 weeks were studied at a mean age of 7.7 years. All had required mechanical ventilation, 36 suffered from hyaline membrane disease, 17 from atelectasis and three from pneumonia. Of these patients 37 developed broncho-pulmonary dysplasia (BPD). The study included skin prick test, measurement of ciliary beat frequency, chest X-ray, whole-body plethysmography and histamine challenge. Eight patients suffered from recurrent pulmonary infections up to the age of 4 years. Eleven children had a positive skin prick test. Three suffered from allergic asthma and six from hay-fever. The family history of atopy in these premature infants was no different from that of the general population. Ciliary beat frequency was normal in all cases (frequency: 11.8 +/- 1.8 Hz). In 34 patients X-rays showed minimal changes (peribronchial thickening n = 6, mild emphysema n = 28). Pulmonary function was normal except for an increase of thoracic gas volume which was correlated to grade of BPD according to Northway. There was a significant correlation between oxygen-score and radiological stage of BPD (r = 0.7). Histamine challenge showed hyperresponsiveness in 53% of the children. Eight patients showed a threshold similar of mild asthma (less than 1000 micrograms histamine per ml). The degree of airway hyperreactivity was correlated to the grade of BPD (r = 0.7; p less than 0.01) and the oxygen-score (r = -0.63; p less than 0.05). The oxygen-score may be considered a predictor of hyperresponsiveness and pulmonary outcome in later childhood.
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PMID:[Pulmonary sequelae of long-term ventilation of very low birth weight premature infants. Results of a follow-up study of 6-to-9-year-old children]. 194 44

The etiology of acute severe mitral incompetence resulting from rupture of the chordae is presented and is illustrated by four case reports. The condition was incorrectly diagnosed and treated primarily as pneumonia or obstructive pulmonary disease. The correct diagnosis was established primarily by echocardiography. Treatment was surgical with implantation of a mitral valvular prosthesis. In three out of four patients, myxomatously degenerated tissue and balooning of the edges of the cups, compatible with the diagnosis of the mitral prolapse syndrome were found. The pathogenesis appears to be primarily dysplasia of the chordae with a component of mechanical wear and tear with physical exertion as the factor precipitating the rupture. The diagnosis of severe mitral incompetence resulting from rupture of the chordae should be borne in mind in cases of acutely developing dyspnoea.
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PMID:[Acute surgery-requiring mitral valve insufficiency caused by rupture of the chordae tendineae]. 200 46

We report two sibs, the ninth and tenth cases of a distinctive familial skeletal dysplasia. Designated kyphomelic dysplasia, the condition is a short limbed dwarfism characterised by very short angulated femora, variable bowing of other long bones, irregular, flared metaphyses, restricted joint mobility, a small thorax and short trunk, a normal cranium and psychomotor development, and a tendency for the bowing to improve with age in survivors. The first born of our cases died of pneumonia at 2 1/2 months of age and is known to us by radiographs only. The second case was under our care from birth. He died aged 13 months after developing a pure red cell aplasia in the second half of infancy, which spontaneously recovered about the time of onset of his final illness. These cases are discussed in relation to previous reports.
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PMID:Kyphomelic dysplasia: the first 10 cases. 210 78


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