Efectividad de ivacaftor en vida real en niños con fibrosis quística y mutación G551D

Introduction

Ivacaftor is a cystic fibrosis transmembrane conductance regulator (CFTR) potentiator that has been shown to improve the nutritional status and lung function of cystic fibrosis patients with the G551D mutation in clinical trials. The objective of this study was to describe the real-world progress of children receiving ivacaftor.

Knowledge about hepatitis and previous exposure to hepatitis viruses in immigrants and refugees from the Mekong Region

OBJECTIVE: Infection with hepatitis B (HBV) and hepatitis C (HCV) viruses is relatively common throughout South-East Asia and chronic infection can lead to severe consequences. This study assesses knowledge about HBV and HCV and estimates the seroprevalence of markers for these viruses in immigrants from Laos and Cambodia. METHODS: Ninety-five Laotian (aged 18-82 years) and 234 Cambodian (15-92 years) immigrants participated in separate community-based surveys conducted during 1998 and 2002, respectively. Participants completed a questionnaire on health status and level of knowledge about viral hepatitis. Blood samples were collected and tested for the presence of HBV and HCV markers. RESULTS: Nine per cent of Laotian and 8% of Cambodian participants were infected with HBV. While 49% of Laotian and 64% of Cambodian participants showed evidence of previous exposure to HBV, 30% and 9%, respectively, were vulnerable to infection. The seroprevalence of antibodies to HCV was 3% in the Laotian and 8% in the Cambodian participants. Between one-fifth and one-third of the Laotians and Cambodians who had heard of HBV and HCV knew of possible transmission routes for the viruses. Most of those with HBV or HCV infection were unaware they were infected. CONCLUSIONS: These findings indicate a significant prevalence of undetected HBV and HCV infections and an urgent need for the provision of culturally relevant information about viral hepatitis in immigrants of South-East Asian origin.     

Mutants of T7 bacteriophage inhibited by lambda prophage.

Mutants in gene 20, a new T7 gene, cannot grow on rex+ lambda lysogens. Gene 20-- mutants suppress in double mutants the phenotype of T7 ligase negative mutations, but not vice versa. Amber 20- mutants have been obtained. There are differences between these T7 mutations and the similar T4 rII mutations. There are host mutations which permit T7 20- mutants to grow on lambda+ lysogens. T7 DNA synthesis on normal lambda+ lysogens infected with 20- mutants is essentially normal, but the DNA is not packaged. The gene 20 protein is active in in vitro complementation and probably used late in infection for DNA packaging into phage heads.     

Adrenal myelolipoma with translocation (3;21)(q25;p11)

Adrenal myelolipoma (ML) is a rare, benign, nonfunctioning tumor-like lesion composed of mature adipose tissue interspersed with bone marrow-like hematopoietic elements in various proportions. It occurs usually in adults and is frequently asymptomatic in about half of cases. The histogenesis of adrenal ML is not clear and this lesion has been found to be associated with endocrine disorders, other adrenal dysfunction and tumors, and hyperstimulation with adrenocorticotropic hormone. Specific chromosomal abnormalities, however, have not been observed in such cases. Herein, we report a typical case of adrenal ML found incidentally in a 26-year-old man. Conventional cytogenetic techniques demonstrated balanced translocation between bands 3q25 and 21p11 in 9 of 20 metaphases analyzed in cultured tumor cells. To the best of our knowledge, this is the first reported case of adrenal ML showing chromosomal abnormality. This finding would indicate that adrenal ML is a bona fide neoplasm and the possibility of derivation from misplaced hematopoietic cells may be alternatively taken into consideration in view of the similar genetic changes in hematopolietic neoplasms.     

Above-knee amputation after recurrent dislocations of total knee arthroplasty

Amputation after total knee arthroplasty (TKA) is an extremely rare but disastrous complication. Most of the reported cases resulted from refractory deep joint sepsis or perioperative vascular complications. We present a case of above-knee amputation resulting from vascular complications after recurrent dislocations of a TKA in a patient with underlying end-stage renal disease. The possible association between certain metabolic diseases and instability of TKA is discussed. In contrast to the high incidence of vascular complications after traumatic knee dislocation, popliteal artery injury after TKA dislocation is seldom encountered. The importance of careful evaluation and serial physical examinations to exclude the possibility cannot be overemphasized, however. When compromise of the circulation was recognized, emergent exploration of the popliteal fossa for repair of the vascular injury presented the best chance to save the limb.     

Repeatability of airway resistance measurements made using the interrupter technique

BACKGROUND: To be able to interpret any measurement, its repeatability should be known. This study reports the repeatability of airway resistance measurements using the interrupter technique (Rint) in children with and without respiratory symptoms. METHODS: Children aged 2-10 years who were healthy, had persistent isolated cough, or who had previous wheeze were studied. On the same occasion, three Rint measurements were made 15 minutes apart, before and after placebo and salbutamol given in random order. Results from those given placebo first were analysed for within-occasion repeatability. Between-occasion repeatability measurements were made 2-20 weeks apart (median 3 weeks). RESULTS: For 85 pairs of measurements before and after placebo the limits of agreement were 20% expected resistance and were unaffected by age or health status. The change in resistance following bronchodilator in one of 18 healthy children, 12 of 28 with cough, and 22 of 39 with wheeze exceeded this threshold. For between-occasion measurements the limits of agreement were 32% in 72 healthy subjects, 49% in 57 with cough, and 53% in 95 with previous wheeze. CONCLUSION: The measurement of airways resistance by the interrupter technique is clinically meaningful when change following an intervention such as the administration of bronchodilator is greater than its within-occasion repeatability. Between-occasion repeatability is too poor to judge change confidently.     

Changes of serum hepatitis B virus DNA in two types of clinical events preceding spontaneous hepatitis B e antigen seroconversion in chronic type B hepatitis

Two types of clinical events, acute exacerbation and uneventful course, precede spontaneous HBeAg seroconversion to its antibody (anti-HBe) in chronic type B hepatitis. To examine the possible mechanism responsible for these two types of clinical events, serial serum specimens from 75 patients who underwent spontaneous HBeAg seroconversion were assayed for hepatitis B virus DNA by slot blot hybridization with 32P-labeled cloned hepatitis B virus DNA as probe. Of these 75 patients, 47 (62.7%) had episodes of acute exacerbation (ALT greater than 300 IU per liter) within 3 months prior to HBeAg seroconversion. All of these 47 patients had high hepatitis B virus DNA levels (greater than 1,000 pg per ml) at the onset of acute exacerbation. Their serum hepatitis B virus DNA disappears shortly before or simultaneously with the HBeAg clearance in 27 patients (57.4%) and persisted but with decreasing levels for 2 to 40 months in 20 patients. Most of these patients had high alpha-fetoprotein levels or evidence of bridging hepatic necrosis. In contrast, the serum hepatitis B virus DNA was undetectable for a minimum of 3 (3-17) months in the 28 patients who had an uneventful course before HBeAg seroconversion. Twenty of these 28 patients had well-documented episodes of acute exacerbation with high hepatitis B virus DNA levels, but with normal alpha-fetoprotein and little evidence of extensive necrosis as far back as 6 to 27 months before HBeAg seroconversion.(ABSTRACT TRUNCATED AT 250 WORDS)     

Low-Dose Dantrolene Is Effective in Treating Hyperthermia and Hypercapnia, and Seems Not to Affect Recovery of the Allograft After Liver Transplantation: Case Report

Dantrolene is the drug of choice in treatment of malignant hyperthermia. However, dantrolene is hepatotoxic; thus prolonged use is not recommended in patients with active hepatic disease such as acute hepatitis or active cirrhosis because it may result in fatal hepatic failure. Use of dantrolene in a patient with end-stage liver disease undergoing liver transplantation (LTx) in whom suspected malignant hyperthermia developed has been reported rarely. Its effect on the liver allograft, which has sustained cold, warm, and reperfusion injuries, is currently unknown. We report a case in which low-dose dantrolene administered intravenously during LTx was effective in treating hyperthermia, hypercapnia, and hyperkalemia. Furthermore, its reported hepatotoxic effect seemed to not affect recovery of the allograft after LTx.