Israel journal of medical sciences最新文献

Familial adenomatous polyposis (FAP), an autosomal dominant inherited disease, confers a high risk of colon cancer. For presymptomatic diagnosis of FAP, we performed linkage studies in three unrelated Israeli families with FAP, using seven polymorphic systems around or at the APC locus on chromosome 5q. These systems are constituted of three DNA probes, recognizing four restriction fragment length polymorphism: C11p11, YN5.48 and pi227; three cytosine-adenine repeat markers: D5S318, D5S346 and MBC; and one intragenic polymorphism: APC-SspI. A meiotic recombination event was detected, apparently between the FAP gene and probe pi227. Based on the different analysis systems, we determined the haplotype at the APC locus in 11 at-risk individuals of the three families, six of whom were found to carry the disease-linked allele. Additionally, we identified a new FAP patient, in whom sigmoidoscopy showed the presence of adenomatous polyps throughout the colon.

Domiciliary long-term oxygen therapy (LTOT) is usually supplied by means of oxygen concentrators (OCs). Various factors that determine the efficacy of such a treatment were evaluated. Sixty-three patients, arbitrarily selected from lists of health care providers, were visited at home by a biomedical engineer and a pulmonary function technician. The evaluation consisted of: i) responses to a directed questionnaire, ii) assessment of the OC output characteristics, and iii) measurement of the patient's oxygen saturation (SaO2) at rest with and without oxygen supplement. Only 33% of patients received oxygen treatment for the recommended 12-24 hours/day and 5% of patients waited the recommended 10 minutes of OC warm-up before connection. Filters were cleaned weekly by only 30% of patients and the concentrator was serviced 3-4 times a year in 25% of cases. The OC was thought to be unduly noisy by 24% of patients and connecting tubing of less than 6 meters was fitted to 90% of OCs, thereby limiting patient mobility. Most of the OCs did not yield the recommended oxygen concentration and the flow rate meters on them tended to underread. Therefore, only 22% of patients received the prescribed oxygen supplement. Whilst breathing room air, a substantial proportion of patients had an SaO2 >90%. Improvements are clearly required in terms of medical indications for LTOT, patient education and supervision, supply and maintenance of concentrators and related equipment.

Anemia of chronic renal failure (CRF) prior to initiation of dialysis is an important cause of morbidity and requires early therapeutic intervention. The current study was designed to investigate the efficacy and tolerability of a therapeutic algorithm for anemia of CRF in pre-dialysis patients which is based on low dose once-a-week subcutaneous (s.c.) administration of recombinant human erythropoietin (r-HuEPO). Thirty-one patients participated in a prospective open-label multicenter study. At baseline, hemoglobin was 8.8+/-0.1 g/dl, transferrin saturation 27+/-2%, ferritin 207+/-28 ng/ml and serum creatinine 4.7+/-0.2 mg/dl. Treatment with r-HuEPO was started at a fixed s.c. dose of 4,000 units once weekly, irrespective of body weight, and titrated upwards or downwards according to a predetermined algorithm. Hemoglobin rose to levels >10 g/dl within 8 weeks and remained stable throughout the remaining period of the study. By week 24, most patients required

The rate of sudden infant death syndrome (SIDS) In Israel is relatively low (0.5-0.9:1,000). Home cardiorespiratory monitoring (HM) is an accepted practice in infants at high risk for SIDS. We report our experience with 261 infants who were referred to our SIDS prevention program. They included: 52 preterm infants with apneas and bradycardias, 83 SIDS siblings (3 twins), 22 infants of drug-addicted mothers, and 104 infants after an idiopathic apparent life-threatening event (ALTE). HM was performed in 40 of 52 preterms, 38 of 83 SIDS siblings, all 22 infants of addicted mothers and 67 of 104 post-ALTE. All received 24 h/day medical and technical backup as well as emotional support, and were closely followed until 15 months of age. None of the 261 infants died. Five infants experienced six ALTEs that required resuscitative measures; another 28 infants had monitor alarms judged as real by the caregivers. The average duration of HM was 3.2 months (range 1-7). In 8 of 167 cases the parents stopped HM earlier than recommended, and in 34 of 167 cases (20%), parents continued HM beyond the time when discontinuation was recommended by the medical personnel. Among the caregivers, 85% found HM to be reassuring and stated that it helped them to conduct a normal life. We suggest that in our population, HM may have a favorable effect on family life. With close backup and support, most families will benefit from HM and will gain reassurance that will enable them to conduct normal life.

Under conditions of beta-adrenergic receptor stimulation, cardiac performance is enhanced. cAMP-dependent phosphorylation of proteins located in the sarcolemma, in the membrane of the sarcoplasmic reticulum (SR), and in the myofibrils of the cardiomyocytes, mediates the effects of catecholamines on the heart. Altered Ca2+ handling leads to increased levels of intracellular free Ca2+. This is mainly responsible for the enhanced contractility of the myocardium that can be observed following beta-adrenergic receptor stimulation. Phosphorylation of the thin filament regulatory protein troponin I (TnI), on the other hand, decreases the Ca2+ sensitivity of the myofilaments, which means that the Ca2+ concentration necessary for the development of half-maximal force is increased. Cardiac TnI has a 26-33 amino acid N-terminal extension that is not present in fast and slow skeletal muscle TnI isoforms. Within this segment, two adjacent serine residues can be phosphorylated by a cAMP-dependent protein kinase. Replacement of endogenous TnI by different mutants obtained using site-directed mutagenesis of one or both of the serine residues has shown that only the bis-phosphorylated form decreases the Ca2+ sensitivity. This Ca2+ desensitizing effect, together with an increased rate of Ca2+ uptake into the SR due to phosphorylation of the SR membrane protein phospholamban, is responsible for the relaxation-enhancing effect (lusitropic action) of catecholamines. The latter is an important determinant of coronary perfusion and rapid diastolic filling of the ventricles, and is also a prerequisite for the elevation of heart rate that accompanies beta-adrenergic receptor stimulation.

Lymphocytic hypophysitis of the anterior pituitary is a rare autoimmune disease, invariably diagnosed either by surgical biopsy of the adenohypophysis or at autopsy. The current report describes the rapid development of hypopituitarism in a 42-year-old nulliparous woman with a large sellar mass, who did not undergo pituitary surgery. Transient regression of the sellar mass and partial improvement of the hypopituitarism was induced by treatment with corticoids. We suggest that the diagnosis of lymphocytic hypophysitis can be established clinically and that conservative treatment with corticoids should be considered prior to surgical intervention.

The objective of our study was to investigate the influence on central and regional circulation of the application of positive end-expiratory pressure (PEEP=P) in a canine model of low hydrostatic pulmonary edema. Eight mongrel dogs with oleic acid-induced pulmonary edema were artificially ventilated with and without PEEP. Regional blood flow was determined using radioactive microspheres directly injected into the left ventricle. Regional blood flow to the brain was maintained under all experimental conditions, while the blood flow to the gastric fundal mucosa and to the pancreas significantly decreased following PEEP, oleic acid injection (OA) and with PEEP and oleic acid combination (P+OA). The renal blood flow decreased only during the P+OA phase. We conclude that the observed decrease in blood flow to the gastrointestinal mucosa and renal circulation in this acute low hydrostatic pressure pulmonary edema may correlate with the increased incidence of gastrointestinal and renal complications that accompany critically ill patients.

Hepatitis C virus (HCV) has nucleotide sequence diversity distributed throughout the viral genome, with variants showing even less than 70% homology. There is some evidence that sequence variation of HCV genotypes partly determines the course of infection and response to treatment with interferon. We studied the sera of 29 Israeli HCV patients, all suffering from chronic liver disease, and 34 patients with renal failure necessitating hemodialysis. HCV genotypes were detected using a reverse hybridization assay (LiPA), after reverse transcription polymerase chain reaction, using primers spanning the 5' UTR of the HCV genome. In this preliminary report the predominant HCV type detected was type 1, found in 65% of the chronic hepatitis patients and in 88% of the hemodialysis patients. Subtype 1b was the most prevalent and was detected in >40% of the chronic hepatitis patients and in >70%of the dialysis patients. Other types detected were 2a and 3, and in only two patients was type 4 found. More than 50% of patients with type 1 (1a or 1b) among patients with chronic hepatitis had received blood transfusion in the past, but only 16.6% of patients bearing subtype 2a HCV had such a history. Our preliminary evaluation revealed that patients bearing subtype 1b seemed to have a better response to interferon treatment, as compared with patients infected with subtypes 1a, 2a, who displayed a low response rate.