Esophageal Atresia with Tracheoesophageal Fistula Is Associated with Consanguinity.

OBJECTIVE: To examine the association between nonsyndromic esophageal atresia with tracheoesophageal fistula (EA-TEF) and consanguinity. STUDY DESIGN: A retrospective study comparing the incidence of EA-TEF between a low-consanguineous Jewish population and a high-consanguineous Bedouin population. All patients were treated at Soroka University Medical Center, the only tertiary medical center in southern Israel. RESULTS: From 2000 to 2022, 579 130 children were born in southern Israel, and 386 915 (66.8%) were Jewish, and 192 215 were Bedouin Muslims. A total of 96 patients were diagnosed with EA-TEF; 83 of them were nonsyndromic. The incidence of EA-TEF was 1.66 cases per 10 000 live births and was statistically higher among the Bedouin population (3 vs 0.95 cases per 10 000 live births; P < .001). The consanguinity rate among the Bedouin group was higher compared with the Jewish (67.8% vs 0%; P < .001). There were no differences in other risk factors. CONCLUSIONS: The incidence of EA-TEF is higher among the Bedouin population that lives in the same geographic region and has the same medical access as the Jewish population, proposing consanguinity as a risk factor for EA-TEF.

Adverse life events among bedouin and jewish women and the risk for postpartum depressive symptoms.

PURPOSE: Postpartum depression (PPD) affects 10-15% of postpartum women with increased risk among women with trauma history. The purpose of this study was to investigate the relationship between adverse life events and postpartum depressive symptoms among Bedouin and Jewish women. METHODS: A cross-sectional study was performed in a tertiary hospital in the southern district of Israel on women with singleton deliveries between November 2021 and March 2022. Eligible women completed two questionnaires to determine exposure to childhood trauma (CT) and other potentially traumatic events (PTE), including the Childhood Trauma Questionnaire (CTQ), and Lifetime Events Checklist questionnaire (LEC). To measure risk for PPD we used the Edinburgh Postnatal Depression Scale (EPDS). The associations between CT, PTE, and risk for PPD were analyzed and multivariable logistic regression models were constructed to control for potential confounders. RESULTS: A total of 201 women were included, 120 Bedouin (59.7%) and 81 Jewish (40.2%). In the entire study population, both CT and PTE were independently associated with risk for PPD (adjusted OR = 2.13, 95% CI 1.02-4.44, p = 0.043 and adjusted OR = 3.42, 95%, CI 1.46-8.00, p = 0.004, respectively). While among Bedouin women, PTE was independently associated with PPD risk (adjusted OR = 4.83, 95% CI 1.66-14.05, p = 0.004), no significant association was found among Jewish women. CONCLUSION: Both CT and PTE were associated with increased PPD risk in Bedouin and Jewish women. Only PTE, and not CT, was associated with PPD among Bedouin women. Understanding risk factors for PPD, and differences among minority groups, could promote prevention efforts for PPD.

Treatment adherence and behavior of pediatric liver transplant recipients during the COVID-19 pandemic.

BACKGROUND: The COVID-19 pandemic has affected medical care worldwide. Thus, we aimed to assess the impact of the COVID-19 pandemic on pediatric LT recipients. METHODS: A cross-sectional study based on a structured internet or telephone survey was conducted among pediatric LT recipients. Survey results were compared with results of a survey conducted among pediatric patients with IBD. RESULTS: Seventy-six pediatric LT patients participated in the study. Of them, 58 (76.3%) reported fear of severe COVID-19 infection due to LT or LT-associated medications. Half of the patients reported needing emotional support. Most patients (51, 67.1%) reported strictly following official guidance, while more stringent protective measures were taken by 64 (84.2%) patients. None of the patients discontinued their medications due to COVID-19. Compared to pediatric patients with IBD, a higher proportion of pediatric LT recipients reported fears of contracting severe COVID-19 infection due to their illness or medications (45, 59.2% vs. 110, 45.1%). CONCLUSION: Among pediatric LT recipients a higher proportion reported fear of severe COVID-19 infection, implemented additional protective measures and expressed a need for emotional support, compared to patients with IBD. Medical teams should provide adequate information and offer a support system for this vulnerable population.

Early-life liver cirrhosis and variable clinical presentation in telomere disease.

AIM: Telomeres are DNA sequences of tandem TTAGGG repeats that protect chromosome ends from degradation and instability. Constitutional loss-of-function telomerase mutations result in rapid telomere shortening, premature senescence and cell death. Liver cirrhosis is rare and has only been reported in adults. We present five family members of Bedouin-Muslim origin, all of which carry the same mutation, and yet demonstrate an extremely variable phenotypical presentation, including liver cirrhosis during early childhood. METHODS: A multidisciplinary long-term follow-up of two healthy and three affected patients was analysed. The mutation (r.95G>C) was identified in all patients using Sanger sequencing. Telomere length samples were obtained and analysed. RESULTS: Clinical phenotypes were extremely variable, including age at first symptoms, organ involvement, disease severity and patient prognosis. The most prominent clinical phenotype is liver involvement, including end-stage liver disease early in life, which affects three members of the family. Affected patients had markedly shorter telomeres. CONCLUSION: We describe an unusual presentation of early liver failure in telomere disease patients. Little, if any, is known about the association between the genotype and phenotype among children with telomere disease and whether the mutation we have described (r.95G>C) is predisposed to early severe hepatic involvement.

Pediatric inflammatory bowel disease and the effect of COVID-19 pandemic on treatment adherence and patients' behavior.

BACKGROUND: The coronavirus disease (COVID-19) pandemic affects medical care worldwide, including patients with inflammatory bowel disease (IBD). Thus, we aimed to assess its impact on health care provision, fear of infection, adherence to medical treatment, and compliance with preventative instructions in children and adolescents with IBD. METHODS: A cross-sectional telephonic survey using a Likert scale-based questionnaire was conducted among all pediatric patients with IBD from a single tertiary medical center. RESULTS: A total of 244 pediatric patients with IBD were included in the study, reporting a high rate of fear of severe COVID-19 infection due to IBD or IBD medications (198, 81.1%). Most of the patients obeyed the Ministry of Health instructions (228, 93.4%), while almost 50% took additional protective measures including avoidance of school and complete lockdown. Concerns regarding the attendance of regular clinics (116, 47.5%) and emergency room in case of IBD exacerbation (178, 73%) were frequently reported. Only 7 patients (2.9%) changed or discontinued their IBD treatment due to COVID-19. CONCLUSION: We noted several distinct features of the COVID-19 pandemic effect on pediatric patients with IBD including a high rate of fear of severe COVID-19 infection, fear of attending necessary medical facilities, and high rate of avoidance of social activities. IMPACT: Pediatric patients with IBD have a high rate of fear of severe COVID-19 infection, fear of attending necessary medical facilities, and a high rate of avoidance of social activities. Medication adherence rate in pediatric patients with IBD during the pandemic is similar to the adherence rate among adults with IBD. Almost 50% of pediatric patients with IBD took additional protective measures including avoidance of school and voluntary lockdown during the COVID-19 pandemic.

Central venous catheter-associated bloodstream infections in children diagnosed with intestinal failure in Southern Israel.

OBJECTIVES: To study the clinical, epidemiological, and microbiological associations between intestinal failure (IF) and central line-associated infections (CLABSI) in patients with central vein catheters (CVCs) during 2005-2016. METHODS: We compared retrospectively CLABSI rates according to background disease, type of line access, pathogen distribution, and antibiotic susceptibilities. RESULTS: One hundred and fourteen children (64.1% < 4 years) were enrolled. Main diagnoses were persistent diarrhea (20, 17.5%), short bowel syndrome (13, 11.4%), continuous-TPN w/o diarrhea (11, 9.7%), very early-onset inflammatory bowel disease (VEO-IBD, 8, 7%), Hirschsprung's disease (3, 2.6%), non-oncologic hematologic conditions (13, 11.4%), and other diseases (46, 40.4%). 152.749 catheter days were recorded; 71.1% had Hickman's catheters. Two hundred and nine CLABSI episodes were recorded in 58 patients (82% with IF, 13.7 and 8.2/1000 catheter days in IF, and non-gastrointestinal conditions, P = 0.09). More CLABSI were recorded in continuous TPN vs. VEO-IBD or persistent diarrhea (38.8 vs.15.8 and 12.8/1000 catheter days, P < 0.004). Among patients with Hickman in jugular vein, highest CLBSI incidence was in continuous TPN, VEO-IBD, and persistent diarrhea (29.9, 15.84, and 12.49 episodes/1000 catheter days, respectively). CVCs were removed in 38.8% CLABSI. Two hundred and thirty-five pathogens were isolated (Enterobacteriaceae spp. in 39% of IF patients, mostly in persistent diarrhea and short bowel syndrome patients, 47.6% and 34.8%, respectively). Coagulase-negative Staphylococcus was the commonest pathogen in continuous TPN, VEO-IBD, and Hirschsprung's (71.4%, 55.6% and 46.1%, respectively). CONCLUSIONS: CLABSI rates in IF patients were among the highest reported. We reported a "hierarchy" in CLABSI incidence among patients with IF and showed that CLABSI incidence and etiology were different as function of background diseases and CVC insertion site.

Urinary tract infections in children < 2 years of age hospitalized in a tertiary medical center in Southern Israel: epidemiologic, imaging, and microbiologic characteristics of first episode in life.

The objectives of the study were to describe the epidemiologic, microbiologic, and imaging characteristics of first 44 UTI episode in hospitalized infants and children < 2 years of age. A UTI episode was diagnosed based on suprapubic aspiration or urinary catheterization and report of a significant bacterial growth of true uropathogens. Two thousand two hundred ninety-four UTI episodes were recorded during 2009-2013 in 1694 patients; 1350 (79.7%), 223 (13.2%), and 66 (3.9%) had one, two, and three episodes, respectively. Of 1955 pathogens isolated, the most frequent were E. coli, Klebsiella spp., and Enterococcus spp. (56.9%, 14.1%, and 11%, respectively). E. coli percentages increased with increase in patient age while Klebsiella spp. and Enterococcus spp. decreased with decrease in age. 136/344 (39.5%) renal ultrasound examinations performed were reported abnormal. The percentages of abnormal ultrasound examinations in Enterococcus spp.-UTI were higher than in E. coli and Klebsiella spp.-UTI (P < 0.001 and P = 0.007, respectively). The E. coli nonsusceptibility to ampicillin, TMP/SMX, ceftriaxone, amoxicillin/clavulanic acid, cefuroxime, and gentamicin was 71%, 31%, 14.9%, 14.7%, 7%, and 4.4%, respectively. Nonsusceptibility of Klebsiella spp. to ampicillin, amoxicillin/clavulanic acid, TMP/SMX, ceftriaxone, gentamicin, and cefuroxime was 98.7%, 10.4%, 9.5%, 8.4%, 4.8%, and 4.3%, respectively. E. coli nonsusceptibility to amoxicillin/clavulanate, TMP/SMX, and ciprofloxacin decreased during the study period. E. coli percentages increased and those of Klebsiella spp. and Enterococcus spp. decreased with increase in patient age. Enterococcus. spp.-UTI was associated with older age and more severe findings on renal ultrasound. E. coli and Klebsiella spp. nonsusceptibility to amoxicillin/clavulanate, TMP/SMX, cefuroxime, and ceftriaxone was low.

Urinary tract infection in young infants discharged from the emergency room with normal urinalysis.

AIM: We describe the clinical, microbiologic, therapeutic, and outcome characteristics of infants under three months of age with a positive urine culture reported after discharge from emergency department with normal urinalysis. METHODS: We enrolled all infants with a urine culture obtained during an emergency room visit during 2004-2012, discharged without antibiotic therapy and subsequently reported with a positive urine culture. RESULTS: Three hundred and ninety-three positive urine cultures were reported; 46/393 (11.7%, 42 in patients under two months of age) had positive urine cultures following normal urinalysis at first visit. Fifteen (33%) had positive urine cultures at second visit; 11/15 (73%) infants with second positive urine culture were under one month of age, eight were asymptomatic and seven had mild symptoms at second visit. Pathogens isolated in all 15 infants were identical between first and second visit. All 27 infants re-examined at second visit at the emergency room were hospitalised, completed sepsis work/up and received antibiotic treatment. None developed serious bacterial infections. CONCLUSION: We propose a new management approach for young infants with normal urinalysis and positive urine culture and suggest restricting the management option including hospitalisation, sepsis work/up and antibiotic treatment at second visit only to infants under one month of age.

The Effectiveness of Taurolidine Antimicrobial Locks in Preventing Catheter-Related Bloodstream Infections (CRBSIs) in Children Receiving Parenteral Nutrition: A Case Series.

INTRODUCTION: We assessed the efficacy of taurolidine lock (TL) in preventing catheter-related bloodstream infections (CRBSIs) and related hospitalizations in children with parenteral nutrition (PN) in the home setting. METHODS: This study is a retrospective case series study. All children with intestinal failure in a single center in southern Israel who were administered PN and treated with TL between 2017 and 2024 were included. The rates of CRBSI episodes, related hospitalizations and pathogen distribution in the pre-TL and post-TL periods were compared. RESULTS: Overall, 14 patients were included. The median pre-TL and post-TL periods were 990 and 1260 days, respectively. The rate of CRBSI episodes due to bacterial infection per 1000 days declined by 45%, from 6.2 to 3.7, with p = 0.0008, while fungal CRBSI rates were low (<10% of all positive cultures) and did not decline significantly. Similarly, the hospitalization episode rate per 1000 days declined by 41%, from 7.6 to 4.5, with p = 0.001. CONCLUSIONS: Taurolidine lock treatment for children with central-line PN resulted in a substantial decrease in CRBSI episodes and related hospitalizations.

Autoimmune liver disease in gastrointestinal conditions.

Content available: Audio Recording.