Abstract Utilizing multiplex real time polymerase chain reaction (RT‐PCR) for rapid diagnosis of gastroenteritis, enables simultaneous detection of multiple pathogens. A comparative analysis of disease characteristics was conducted between cases with single and multiple viruses. Rotavirus vaccine was introduced in 2010, reaching a 70% coverage in 2 years. All rectal swabs collected from diarrheic children (<5 years) between December 2017 and March 2022 were included. Detection of the same viruses within 2 months was considered a single episode. Episodes with positive stool bacterial PCR were excluded. A total of 5879 samples were collected, revealing 86.9% (1509) with single virus detection and 13.1% (227) with multiple viruses. The most frequent combination was rotavirus and norovirus (27.8%), these infections followed a winter‐spring seasonality akin to rotavirus. Children with multivirus infections exhibited higher immunodeficiency (OR 2.06) rates, but lower food allergy (OR 0.45) and prematurity rates (OR 0.55) compared to single infections. Greater disease severity, evaluated by the Vesikari score, was observed in multivirus episodes ( p < 0.001, OR 1.12). Multivirus infections accounted for 13.1% of symptomatic cases in hospitalized young children. Despite vaccination efforts, rotavirus remained prominent, frequently in co‐infections with norovirus. Overall, multivirus infections were linked to more severe diseases than single virus cases.
The Nancy Histological Index (NHI) was developed to assess histological disease activity in adult ulcerative colitis (UC) patients. However, data in pediatrics is limited. Our aim was to determine whether the NHI correlates with different indices of disease activity in pediatric UC patients. We retrospectively reviewed the NHI in rectal biopsies from 61 pediatric UC patients (median age 14.3 years), of whom 34 (55.7%) were newly diagnosed. The median Pediatric Ulcerative Colitis Activity Index (PUCAI) score among participants was 30 (interquartile range 5-55). Most patients exhibited an NHI of 3 (41/61, 67.2%) or 4 (8/61, 13.1%), reflecting moderate-severe histologic inflammation. A moderate positive correlation was identified between the NHI and PUCAI, fecal calprotectin, and Mayo endoscopic scores ( r = 0.60, 0.54, and 0.56 respectively, P ≤ 0.001), but not with CRP or albumin. These results indicate that the NHI has a modest correlation with clinical, laboratory and endoscopic indices of disease activity in pediatric UC patients.
Abstract The Nancy Histological Index (NHI) is used to score histologic disease activity in patients with ulcerative colitis (UC). Our goal was to assess the utility of NHI at diagnosis in predicting clinical outcomes in pediatric patients with UC, in comparison to clinical and endoscopic scores. We retrospectively reviewed data at diagnosis of 106 children with UC (59 [55.7%] females; median age 14.4 [11.2–15.9] years, median Pediatric Ulcerative Colitis Activity Index [PUCAI] 35 [25–55]). During a follow‐up of 116 (55–171) weeks, 33 patients (31.1%) required azathioprine therapy, and 32 (30.2%) were escalated to anti‐tumor necrosis factor alpha (anti‐TNFa). The PUCAI and Mayo endoscopic scores at diagnosis were significantly associated with escalation to anti‐TNFa ( p = 0.036 and p = 0.02, respectively), but not with initiation of azathioprine or subsequent acute severe colitis (ASC) events. However, the NHI was not associated with subsequent immunomodulators or anti‐TNFa therapy ( p = 0.42 and p = 0.78, respectively), nor with future ASC events ( p = 0.70). In conclusion, the NHI failed to predict clinical outcomes in newly diagnosed pediatric patients with UC.
Abstract Aldosterone synthase deficiency (ASD) is a rare potentially life‐threatening genetic disorder that usually presents during infancy due to pathogenic variants in the CYP11B2 gene. Knowledge about CYP11B2 variants in the Arab population is scarce. Here, we present and analyze five Palestinian patients and their different novel pathogenic variants. Data on clinical presentation, electrolytes, plasma renin activity, and steroid hormone levels of five patients diagnosed with ASD were summarized. Sequencing of the CYP11B2 gene exons was followed by evolutionary conservation analysis and structural modeling of the variants. All patients were from highly consanguineous Palestinian families. The patients presented at 1–4 months of age with recurrent vomiting, poor weight gain, hyponatremia, hyperkalemia, and low aldosterone levels. Genetic analysis of the CYP11B2 gene revealed three homozygous pathogenic variants: p.Ser344Profs*9, p.G452W in two patients from an extended family, and p.Q338stop. A previously described pathogenic variant was found in one patient: p.G288S. We described four different CYP11B2 gene pathogenic variants in a relatively small population. Our findings may contribute to the future early diagnosis and therapy for patients with ASD among Arab patients who present with failure to thrive and compatible electrolyte disturbances.
Abstract Background Multiplex-PCR for the diagnosis of acute gastroenteritis (AGE) has allowed for rapid detection of multiple pathogens simultaneously but poses challenges in distinguishing between shedding and disease-causing pathogens. We aimed to evaluate the epidemiology of viral AGE and compare clinical characteristics among the 5 most common viruses. Methods SUMC is the only hospital in southern Israel serves a population of ∼97,500 children < 5 years. Rotavirus vaccine was added to the national immunization program in 2010 and vaccine coverage (3 doses) reached 70% in 2 years. All rectal swabs for multiplex-PCR targeting; rotavirus, norovirus, adenovirus 40,41, astrovirus and sapovirus collected from diarrheic children < 5 years, December 2017 - March 2022, were included. Detection of the same virus within 2 months was considered a single episode. The clinical analysis included all episodes with single-virus detection and negative stool bacterial PCR (Figure 1). Results Of the 5,151 rectal swabs collected, 1,934 (37.5%) were positive for at least one virus, with 245 (12.6%) showing multiple virus detection. Norovirus and rotavirus were the most prevalent (Figure 1). No clear seasonality was observed for AGE viruses in 2018-19. However, during the 2nd year of the COVID-19 pandemic, an unusual surge in warm months was observed, first attributed to rotavirus and later to norovirus (Figure 2). Of the single-virus AGE episodes with negative bacterial PCR, 34.6% and 5.9% presented with mucus and bloody stool, respectively, and 29.3% were treated with antibiotics. No significant differences in rotavirus vaccination rates were found between rotavirus and other viruses. Children infected with astrovirus and sapovirus had higher rates of hospital-acquired AGE and immunodeficiency (P< 0.05) (Table), while children with rotavirus had higher dehydration severity and metabolic acidosis (P< 0.05) (Figure 3). Conclusion 37.5% of all rectal swabs from diarrheic hospitalized children < 5 years were positive for enteric virus, 12.6% with multiple detection. Rotavirus remained significant and the most severe despite vaccination efforts. Our findings highlight the importance of continuous surveillance in the context of multiplex PCR testing for accurate management and future prevention methods. Disclosures Dana Danino, Dr. MD, Pfizer: Grant/Research Support David Greenberg, Professor MD, GSK: Advisor/Consultant|GSK: Honoraria|MSD: Advisor/Consultant|MSD: Grant/Research Support|MSD: Honoraria|Pfizer: Advisor/Consultant|Pfizer: Honoraria
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