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

The clinical features of an 8-year-old boy with congenital emphysema, cryptorchidism, a penoscrotal web, deafness, constipation and mental retardation are described. Review of the literature did not reveal another report of this unusual combination of features.
 ...
PMID:Congenital emphysema, cryptorchidism, penoscrotal web, deafness, and mental retardation--a new syndrome? 901 16

The purpose of the National Exposure Registry is to assess the long-term health consequences to a general population from long-term, low-level exposures to specific substances in the environment. This study investigates the health outcomes of 1,143 persons (1,127 living, 16 deceased) living in south central Texas who had documented environmental exposure to benzene (up to 66ppb) in tap water. As with all subregistries, face-to-face interviews were used to collect self-reported information for 25 general health status questions. Using computer-assisted telephone interviewing, the same health questions were asked 1 year (Followup 1, F1) and 2 years later (Followup 2, F2). The health outcome rates for Baseline and Followup 1 and 2 data collections for the Benzene Subregistry were compared with national norms, that is, the National Health Interview Survey (NHIS) rates. For at least one of the three reporting periods, specific age and sex groups of the Benzene Subregistry population reported more adverse health outcomes when compared with the NHIS population, including anemia and other blood disorders, ulcers, gall bladder trouble, and stomach or intestinal problems, stroke, urinary tract disorders, skin rashes, diabetes, kidney disease, and respiratory allergies. Statistically significant deficits for the Benzene Subregistry population overall were found for asthma, emphysema, or chronic bronchitis; arthritis, rheumatism, or other joint disorders; hearing impairment; and speech impairment. No statistically significant differences between the two populations were seen for the outcomes hypertension; liver disease; mental retardation; or cancer. These results do not identify a causal relationship between benzene exposure and adverse health effects; however, they do reinforce the need for continued followup of registrants.
 ...
PMID:The National Exposure Registry: analyses of health outcomes from the benzene subregistry. 956 45

Owing to the large size of chromosome 2, partial monosomy of the long arm of this chromosome gives rise to many specific phenotypes. We report on a 2-month-old girl with an interstitial deletion of 2q24.2q24.3, which was confirmed by microarray-based comparative genomic hybridization analysis. The patient showed delayed growth and mental retardation, early myoclonic seizures, and characteristic dysmorphic features including thick arched eyebrows, upslanting palpebral fissures, long eyelashes, depressed nasal bridge, short nose, long philtrum, small mouth, micrognathia, and low set ears. Her early myoclonic seizures were likely due to haploinsufficiency of SCN1A and SCN2A, which are included in the deletion region. When she experienced acute bronchopneumonia, she showed severe pulmonary emphysema. The deletion region of 2q24.2 includes the integrin beta6 gene (ITGB6), which may prevent acute lung injury and pulmonary emphysema. Many previously reported patients with deletions of 2q24.2 showed poor outcomes because of respiratory failure. These observations suggest the possibility of a strong relationship between haploinsufficiency of ITGB6 and pulmonary dysfunction.
 ...
PMID:Severe pulmonary emphysema in a girl with interstitial deletion of 2q24.2q24.3 including ITGB6. 2035 20

Foreign body aspiration in childhood is a common and life-threatening emergency. A 14-year-old male with history of mental retardation was transferred from another center to our hospital with diagnosis of foreign body aspiration. According to the anamnesis, he had been diagnosed with epilepsy a few years ago. Approximately 10 hours before admission, while at home, his parents had urgently placed a wooden spoon in the boy's mouth during a generalized tonic-clonic seizure to avoid possible airway injury. Nevertheless, he had inhaled a large piece of the wood after breaking the handle of the spoon with his teeth. Rigid bronchoscopic evaluation revealed the presence of a large piece of wood sitting vertically 2 cm beyond the glottis. Although bronchoscopic removal of the wooden piece from the trachea was difficult and prolonged, it was successful. Following this process, he presented with subcutaneous emphysema and pneumothorax in the intensive care unit (ICU). After improvement with the aid of chest tube drainage in the ICU, he was discharged from the hospital on the 3rd day of rigid bronchoscopy. Early diagnosis and urgent removal of a foreign body are very important for reducing mortality. However, complications related to the foreign body itself or the bronchoscopy may occur. In conclusion, the physical characteristics, position and location of the foreign body can influence the outcome, even in skilled hands.
 ...
PMID:Iatrogenic aspiration of a large piece of a wooden spoon in a 14-year-old epilepsy patient. 2193 37