Clinical spectrum of early onset “Mediterranean” (homozygous p.P131L mutation) mitochondrial neurogastrointestinal encephalomyopathy

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive mitochondrial disorder characterized by cumulative and progressive gastrointestinal and neurological findings. This retrospective observational study, aimed to explore the time of presentation, diagnosis and clinical follow-up of 13 patients with a confirmed MNGIE disease of Mediterranean origin. The mean age of symptom onset was 7 years (6 months−21 years) and the average diagnosis age was 15.4 years ±8.4. Four of 13 patients (30%) died before 30 years at the mean age of 19.7 years ±6.8. Cachexia and gastrointestinal symptoms were observed in all patients (100%). The mean body mass index standard deviation score at diagnosis was 4.8 ± 2.8. At least three subocclusive episodes were presented in patients who died in last year of their life. The main neurological symptom found in most patients was peripheral neuropathy (92%). Ten patients (77%) had leukoencephalopathy and the remaining three patients without were under 10 years of age. The new homozygous “Mediterranean” TYMP mutation, p.P131L (c.392 C > T) was associated with an early presentation and poor prognosis in nine patients (69%) from five separates families. Based on the observations from this Mediterranean MNGIE cohort, we propose that the unexplained abdominal pain combined with cachexia is an indicator of MNGIE. High-platelet counts and nerve conduction studies may be supportive laboratory findings and the frequent subocclusive episodes could be a negative prognostic factor for mortality. Finally, the homozygous p.P131L (c.392 C > T) mutation could be associated with rapid progressive disease with poor prognosis

Hematopoietic stem cell transplantation with reduced toxicity conditioning regimen in mitochondrial neurogastrointestinal encephalopathy syndrome

Background Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive disorder due to mutations in the TYMP gene. Clinical findings are characterized by neurologic manifestations and severe gastrointestinal dysfunction. The syndrome is usually fatal, the most effective treatment appears to be hematopoietic stem cell transplantation (HSCT). Procedure In this retrospective study, we evaluated HSCT that was performed using a reduced toxicity myeloablative conditioning regimen in patients with MNGIE at our center. Results A total of six allogeneic transplant procedures were performed in four patients. Three patients had fully matched donors, and one patient had a haploidentical donor. Treosulfan-based myeloablative conditioning regimen was applied in five of six transplants. Bone marrow was used as a stem cell source. One patient is being followed up in the 4th year of posttransplant with full chimeric and without graft versus host disease (GVHD). One patient died of acute stage IV gastrointestinal system GVHD. Two patients underwent second transplantation due to engraftment failure, one of which was the patient who had a haploidentical transplant. Conclusions Treosulfan-based regimen is well tolerated, although engraftment failure with this conditioning regimen can be a significant problem. We share our haploidentical transplant experience, which will be the first reported case in the literature

Exploring Attitudes Toward “Sugar Relationships” Across 87 Countries: A Global Perspective on Exchanges of Resources for Sex and Companionship

The current study investigates attitudes toward one form of sex for resources: the so-called sugar relationships, which often involve exchanges of resources for sex and/or companionship. The present study examined associations among attitudes toward sugar relationships and relevant variables (e.g., sex, sociosexuality, gender inequality, parasitic exposure) in 69,924 participants across 87 countries. Two self-report measures of Acceptance of Sugar Relationships (ASR) developed for younger companion providers (ASR-YWMS) and older resource providers (ASR-OMWS) were translated into 37 languages. We tested cross-sex and cross-linguistic construct equivalence, cross-cultural invariance in sex differences, and the importance of the hypothetical predictors of ASR. Both measures showed adequate psychometric properties in all languages (except the Persian version of ASR-YWMS). Results partially supported our hypotheses and were consistent with previous theoretical considerations and empirical evidence on human mating. For example, at the individual level, sociosexual orientation, traditional gender roles, and pathogen prevalence were significant predictors of both ASR-YWMS and ASR-OMWS. At the country level, gender inequality and parasite stress positively predicted the ASR-YWMS. However, being a woman negatively predicted the ASR-OMWS, but positively predicted the ASR-YWMS. At country-level, ingroup favoritism and parasite stress positively predicted the ASR-OMWS. Furthermore, significant cross-subregional differences were found in the openness to sugar relationships (both ASR-YWMS and ASR-OMWS scores) across subregions. Finally, significant differences were found between ASR-YWMS and ASR-OMWS when compared in each subregion. The ASR-YWMS was significantly higher than the ASR-OMWS in all subregions, except for Northern Africa and Western Asia

Effects of selected antibiotics on pancreatitis induced liver and pulmonary injury

PubMed ID: 15688261OBJECTIVE: To investigate the protective effect of antibiotherapy in the early phase of acute pancreatitis on cellular injury induced in lungs and liver. BACKGROUND: Cellular viability and plasma nitric oxide (NO) levels were assessed to determine the efficacy of highly bactericidal imipenem and quinolones on liver and lung injury. METHODS: Imipenem, levofloxacin or saline were administered to rats with caerulein induced pancreatitis. Twenty-four hours later serum amylase, aspartate aminotransferase, alanine aminotransferase, lactate dehydrogenase, and NO levels, pancreatic interstitial inflammation, acinar cell necrosis, acinar cell vacuolisation, peripancreatic fat necrosis; spotty necrosis, focal inflammation of liver and inflammatory processes in the lungs were assessed. RESULTS: Enzyme levels in the antibiotherapy groups were lower than in the control group. Serum NO levels were higher only in the imipenem group. Levofloxacin decreased acinar cell vacuolisation in the pancreas; interstitial edema, neutrophilic infiltration and interstitial enlargement in the lungs. Antibiotherapy decreased spotty necrosis, apoptosis and focal inflammation in the liver. CONCLUSIONS: Although treatment with imipenem is associated with higher NO levels than levofloxacin, levofloxacin prevents organ injury more effectively than imipenem in acute pancreatitis. Our results indicate that antibiotherapy in the early period of necrotizing pancreatitis prevents cellular damage induced in pancreas, liver and lungs

Perceptions of social norms around healthy and environmentally-friendly food choices: linking the role of referent groups to behavior

Referent groups can moderate the perception of social norms and individuals’ likelihood to model these norms in food choice contexts, including vegetable intake and reduced meat consumption. The present study investigated whether having a close vs. a distant social group as the referent changed perceptions of social norms around making healthy and eco-friendly food choices. It also assessed whether these changes were associated with a difference in the health and environmental impacts of food choice in a virtual grocery shopping task. A nationally representative sample of UK adults (N = 2,488) reported their perceptions of making healthy and eco-friendly food choices being the norm among people they share meals with (close referent group) and most people in the UK (distant referent group). The former was more commonly perceived to be making both healthy (Z = −12.0, p  0.05, 95% CIs: −1.12, 0.25) and health (β = −0.06, p > 0.05, 95% CIs: −0.37, 0.25) impacts. Framing social norms around making healthy and eco-friendly food choices to refer to a close referent group may change their perceptions and ability to encourage sustainable and healthy food purchasing

Karaciğer travmasına yaklaşımda intraoperatif doppler ultrasonografi ile metilen mavisinin kombine kullanımı

Background and aim: Liver injury is regarded 10% of whole abdominal injuries. Of these, 25.8% occurs due to gun shot and needs to be explored surgically. This report emphasizes the efficacy of different combination of diagnostic methods in the management of high grade liver injuries. Case presentation: A 55-year-old man with a gun shot injury was brought to the emergency service. Once fluid resuscitation was initiated, physical examination an entrance wound on the sternoxiphoid junction and an exit wound on the right 12th rib in the midclavicular line. After plain chest x-ray and ultrasonography revealing pneumothorax and free fluid, respectively, he promptly underwent exploratory laparotomy. The bullet passing through the segment 3, 4b, 5 and 6 was determined. Intraoperative ultrasonography and metyhlene blue injection methods were jointly used to evaluate the vascular structures and biliary tree respectively. After pringle maneuver was performed, the portal vein, hepatic artery and vein of the disrupted segment 6 were ligated and injury of the bile duct of the segment 6 was also repaired. He recovered without any complication and was discharged from the hospital on the postoperative day 7. Conclusion: Combination of intraoperative ultrasonography for vascular evaluation with methylene blue injection for bile duct examination is a contributive factor for operative outcome, maintaining shorter time and minimalized traumatization during operationGiriş ve amaç: Karaciğer yaralanmaları tüm batın travmalarının %10'una eşlik etmektedir. Bunların da %25.8'i ateşli silah yaralanması nedeniyle gerçekleşmektedir ve cerrahi eksplorasyon gerektirir. Bu yazıda yüksek dereceli karaciğer yaralanmalarında farklı tanı metodlarının kombinasyonunun etkinliğine değinmeyi amaçladık. Olgu Sunumu: Ellibeş yaşında bir erkek hasta ateşli silah yaralanmasına maruz kaldıktan yaklaşık 1 saat sonra acil servise getirildi. Sıvı desteği sonrası yapılan muayenede sternoksifoid bileşkede bir adet giriş deliği ve sağ 12. kostanın midklavikuler hat ile kesişme noktasında çıkış deliği görüldü. Akciğer grafisinde pnömotoraks ve batın ultrasonografisinde serbest sıvı saptanması üzerine hasta acilen operasyona alındı. Operasyon gözleminde kurşun trasesinin karaciğer segment 3, 4b, 5 ve 6 içinden geçtiği saptanması üzerine intraoperatif Doppler ultrasonografi ile vasküler yapılar ve sistik güdükten verilen metilen mavisi ile safra yolları değerlendirildi. Tespit edilen hasar nedeniyle segment 6'nın portal veni, hepatik arteri ve veni bağlandı ve yine segment 6 safra kanalı da sütüre edildi. Herhangibir komplikasyon gelişmeyen hasta postoperatif 7. gün taburcu edildi. Sonuç: Ciddi karaciğer travması saptanan olgularda intraoperatif Doppler ultrasonografi ile vasküler yapının görüntülenmesinin yanısıra eş zamanlı metilen mavisi ile safra yollarının da değerlendirmesi hem operasyon süresini kısaltması hem de minimalize yaklaşım sağlaması nedeniyle cerrahi başarı için önemlidir

Detection of respiratory syncytial virus in children in the 1993-94 winter season in Izmir, Turkey, by two diagnostic methods

PubMed ID: 7833009Respiratory syncytial virus (RSV) infection was searched for in 65 children between 2 months and 2 years of age hospitalized with the presumptive diagnosis of acute bronchiolitis, and in 35 children aged 6 months to 8 years with upper respiratory tract symptoms, by direct fluorescent antibody (DFA) test and cell culture. RSV infection was detected in 29.2% of the first and in 11.4% of the second group. The overall positivity rate was 23%. The sensitivity and the specificity of the commercially available DFA test in comparison with cell culture were 81.8% and 92.5%, respectively. © 1994 APMI