Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0021051 (immunodeficiency)
 71,517 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Bacteremia in patients with cystic fibrosis (CF) has not been previously reported, a fact probably attributable to activated systemic immunity in the presence of chronic bronchopulmonary infection. We have observed two CF patients under a year of age with documented bacteremia, and a teen-aged patient with autopsy evidence of premortem bacteremia. Organisms were Staphylococcus aureus, Serratia marcescens, and Pseudomonas aeruginosa, having presumably spread from the lower respiratory tract in both patients. None of the patients had historical or laboratory evidence of immunodeficiency. The true incidence of bacteremia in CF patients is unknown, and the circumstances under which it occurs have not yet been defined.
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PMID:Bacteremia in patients with cystic fibrosis. 700 Apr 10

An immunocompetent 12-year-old boy developed multiple microaerophilic streptococcal lung abscesses after application of orthodontic bands ("braces"). The dental work was done in the supine position. The data suggest that the patient aspirated the organisms and, possibly, flecks of dental cement, during orthodontic treatment. "Rubber dams" should be used to help prevent aspiration in children who receive dental work in the supine position. When a rubber dam cannot be used, as with orthodontic treatment, physicians should advise patients who are at risk for developing pulmonary infection (eg, patients with neuromuscular diseases which compromise cough and/or gag, cystic fibrosis, sickle cell anemia, primary immunodeficiency, etc) to have this dental work, including orthodontic treatment, performed in the erect position.
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PMID:Multiple microaerophilic streptococcal lung abscesses after orthodontic treatment. 713 23

A total of 83 children and teenagers underwent endoscopic nasal and sinus surgery. Six patients had surgery for choanal atresia (4) and adenoid hypertrophy (2) and will only be briefly mentioned. Seventy-seven children and teenagers underwent endoscopic sinus surgery for acute and chronic sinusitis, choanal polyposis, and nasal polyposis with a minimum 2-year follow-up. One hundred thirty-three ethmoidectomies, 37 sphenoidotomies, and 119 maxillary antrostomies were performed. Subjective evaluation of the sinus surgery patients indicated that 38% of patients were cured and 55% improved during an average of 3.5 years of follow-up. The number cured and number improved are lower and higher, respectively, than in other reports of results because of the longer follow-up and patient selection. In addition, objective data were obtained on 34 patients with a second- or third-look procedure 2 weeks to 2 months after surgery. These examinations found significant granulation tissue, and almost 50% of patients had at least one maxillary ostia closed. Long-term objective results, however, are not available to determine whether the ostia remained closed. Problems with healing in children's endoscopic sinus surgery are unpredictable compared those in adult surgery because postoperative debridement and examination are often difficult to perform, thus allowing tissue to heal without control. In this series, other factors such as the increased risks of cystic fibrosis, allergy, and immunodeficiency were also more prevalent and compromised healing.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Pediatric endoscopic nasal and sinus surgery. 767 79

Retroactive testing for cystic fibrosis carrier status was performed on 149 semen donors and 100 donor applicants; 162 human immunodeficiency virus (HIV-1) sero-negative non-active semen donors and 45 HIV-1 sero-negative actively donating semen donors were also retroactively tested for HIV-1 by polymerase chain reaction (PCR). The 249 individuals tested for cystic fibrosis were examined for seven mutations including delta F508, G542X, S549I, S549N, G551D, R553X, and W1282X. Of 149 retroactively tested donors, five (3.4%) were determined to be heterozygous carriers of the delta F508 mutation for cystic fibrosis. One of the 100 donor applicants was also heterozygous for delta F508. The 207 HIV-1 sero-negative donors had an average of 15.4 (range 2-45) HIV antibody tests during an average of 15.6 (range 1-68) months of donations. No donors had positive seroconversion. These donors also tested negative for HIV by PCR. Cystic fibrosis testing of donor applicants prevents known carriers from being used for artificial insemination by donor therapy and reduces substantially the risk of an offspring being born with the disease. With stringent donor selection and exclusion of high-HIV-risk applicants, the occurrence of HIV infection and subsequent seroconversion in donor populations should be very infrequent.
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PMID:Results of retroactive testing of human semen donors for cystic fibrosis and human immunodeficiency virus by polymerase chain reaction. 825 31

The occurrence of chronic diarrhea in infants younger than three months suggests disaccharidase deficiency, cow's milk or soy protein intolerance, cystic fibrosis or an immunodeficiency state, while chronic diarrhea in children three to 18 years of age suggests celiac disease, late-onset primary lactose deficiency and inflammatory bowel disease. Gastrointestinal infection is the most common cause of chronic diarrhea in children of all ages. Diarrhea that develops after the introduction of cow's milk, cereals and fruits suggests an enzyme deficiency or protein intolerance. Watery, explosive stools suggest sugar intolerance, and foul-smelling, greasy, bulky stools suggest fat malabsorption. Marked weight loss suggests malabsorption, inflammatory bowel disease, hyperthyroidism or malignancy. The presence of neutrophils or red blood cells in the stool indicates bacterial gastroenteritis or inflammatory bowel disease, while the presence of eosinophils suggests protein intolerance or parasitic infestation. A toddler who is thriving and cheerful despite having diarrhea may have chronic nonspecific diarrhea of childhood.
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PMID:Evaluating the child with chronic diarrhea. 862 43

A replication-defective vector based on human immunodeficiency virus (HIV) was evaluated for gene transfer directed to the lung. The tropism of this vector has been expanded through the incorporation of the vesticular stomatitis virus G protein into its envelope. The HIV vector effectively transduced nondividing airway epithelial cells in vitro whereas a murine-based retroviral vector did not. Experiments in a human bronchial xenograft model demonstrated high-level gene transduction with a cystic fibrosis transmembrane conductance regulator (CFTR) HIV vector into undifferentiated, cystic fibrosis (CF)-derived cells of the xenograft. CFTR expression was stable and capable of functional correction of the CF defect after the graft matured. The HIV vector did not effectively transduce cells of the xenograft when instilled after the epithelium had differentiated. This block to transduction appears to be at the level of entry, although post entry restrictions cannot be ruled out. Further development of this vector system for CF gene therapy should focus on a better understanding of potential entry and post entry blocks.
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PMID:Lentiviral vectors for gene therapy of cystic fibrosis. 944 79

Amid controversy about cost-benefit ratios and ethical issues of discrimination and presumed consent, individual U.S. states are on the verge of expanding the newborn screen. The success of population-based newborn screening for genetic and metabolic disorders has been called the miracle of our times. Rapid scientific growth in genetic mapping and laboratory testing has resulted in increased genetic testing in the adult population as well. Caution must be exercised, however, before mass population testing of newborns is considered. Proposed testing for treatable but incurable conditions such as cystic fibrosis and human immunodeficiency virus (HIV) remains controversial. Health professionals must meet the challenge of educating themselves and others in order to advocate for children and families. Their efforts should extend to the legislative arena where decisions to amend the newborn screen are made. Nurses, genetic counselors, and other health professionals are in key positions to conduct research in this area to expand knowledge about the implications of genetic testing for the families they serve.
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PMID:Expanding the newborn screen: terrific or troubling? 974 90

Proper prenatal care has long been established as the single most important factor in improving both maternal and infant health (Henderson 1994) yet the United States remains one of only two industrialized nations that have yet to ensure universal healthcare for pregnant women (National Center for Farmworker Health, Inc. 1997). Through clinical innovations, many progressive interventions now available are not only medically effective but also financially prudent. This study addresses the efficacy and feasibility and discusses the policy implications of the following four prenatal programs: universal prenatal screening for the human immunodeficiency virus, prenatal carrier screening for cystic fibrosis, condition-specific care for pregnant diabetics, and prenatal nutrition counseling. The healthcare community is challenged to expand the breadth of routine prenatal care to include those services that are both financially sensible and clinically imperative.
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PMID:A cost-savings analysis of prenatal interventions. 1018 32

The aim of our study was to evaluate the success, complications, and morbidity following a modified Thal fundoplication in children with reflux-associated respiratory disease (RARD). We used a procedure consisting of retroesophageal hiatal plasty, wrapping the gastric fundus around the gastroesophageal junction 180 degrees, and fixation of the lesser curvature at the abdominal wall. Follow-up by questionnaire of 128 (77 male, 51 females) out of 196 antireflux procedures between 1992 and 1995 was achieved. Surgical therapy was considered justified whenever there was gastroesophageal reflux resulting in severe recurrent respiratory symptoms. Eleven percent of the children suffered from bronchiectasis. The diagnosis of RARD was based on a high index of suspicion, barium swallow with fluoroscopy, 24-hr two-level pH-monitoring, bronchoscopy, bronchoalveolar lavage and detection of lipid-laden alveolar macrophages, esophago-gastroscopy, and esophageal biopsy. Patients with bronchopulmonary diseases such as allergy, immunodeficiency, cystic fibrosis, primary ciliary dyskinesia, and malformation of the bronchial tree or vessels had been excluded. "Evident improvement" as a result of surgery was reported in 88%, "no change" in 10%, and a "change for the worse" in 2% of patients. Persistent mild difficulties in swallowing were observed in 11%. Paraesophageal hernia, gas-bloat syndrome, and dumping syndrome were not observed. Two children needed a second operation because of relapse. The use of emergency steroidal medication for acute respiratory distress decreased impressively (219 single doses/year before surgery vs. 30 single doses/year after surgery). The need for more than 4 times/year of antibiotic therapy before surgery was reduced from 52. 3% before to 14% after surgery. Most (90.6%) of the parents stated they would agree to have surgery done again if medically indicated. In conclusion, Thal fundoplication is sufficient, safe, and effective in the management of RARD. Complications of the procedure were minor and of little consequence to the patient.
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PMID:Antireflux surgery in children suffering from reflux-associated respiratory diseases. 1128 21

Pulmonary surfactant is a complex and highly surface active material composed of lipids and proteins which is found in the fluid lining the alveolar surface of the lungs. Surfactant prevents alveolar collapse at low lung volume, and preserves bronchiolar patency during normal and forced respiration (biophysical functions). In addition, it is involved in the protection of the lungs from injuries and infections caused by inhaled particles and micro-organisms (immunological, non-biophysical functions). Pulmonary surfactant can only be harvested by lavage procedures, which may disrupt its pre-existing biophysical and biochemical micro-organization. These limitations must always be considered when interpreting ex vivo studies of pulmonary surfactant. A pathophysiological role for surfactant was first appreciated in premature infants with respiratory distress syndrome and hyaline membrane disease, a condition which is nowadays routinely treated with exogenous surfactant replacement. Biochemical surfactant abnormalities of varying degrees have been described in obstructive lung diseases (asthma, bronchiolitis, chronic obstructive pulmonary disease, and following lung transplantation), infectious and suppurative lung diseases (cystic fibrosis, pneumonia, and human immunodeficiency virus), adult respiratory distress syndrome, pulmonary oedema, other diseases specific to infants (chronic lung disease of prematurity, and surfactant protein-B deficiency), interstitial lung diseases (sarcoidosis, idiopathic pulmonary fibrosis, and hypersensitivity pneumonitis), pulmonary alveolar proteinosis, following cardiopulmonary bypass, and in smokers. For some pulmonary conditions surfactant replacement therapy is on the horizon, but for the majority much more needs to be learnt about the pathophysiological role the observed surfactant abnormalities may have.
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PMID:Pulmonary surfactant in health and human lung diseases: state of the art. 1044 27


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