E148Q variant: a familial Mediterranean fever-causing mutation or a sequence variant?

Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disease, linked to mutations in the MEFV gene. The p.E148Q variant, found on exon 2, has an uncertain role in FMF, with debates on whether it is a benign polymorphism or a pathogenic mutation. This study aimed to assess the clinical characteristics and severity of FMF in patients homozygous for the p.E148Q variant and to evaluate the impact of the p.V726A variant in these patients. This retrospective cohort study analyzed data from electronic medical records at Carmel Medical Center, Israel. Patients who underwent genetic testing for FMF from November 2004 to December 2019 and had p.E148Q/p.E148Q or p.E148Q/p.E148Q + p.V726A variants were included. Disease severity was assessed using the Tel Hashomer Key to Severity Score. Statistical analyses compared clinical characteristics and severity between genotype groups. The study included 61 FMF patients, with 24 (39%) having p.E148Q/p.E148Q and 37 (61%) having p.E148Q/p.E148Q + p.V726A variants. The majority (72%) were Druze. Most patients (65.5%) exhibited mild disease, while 31.1% had moderate disease, with no cases of severe disease. Colchicine treatment significantly reduced CRP levels in all patients. CONCLUSION: These findings suggest that the p.E148Q variant, whether alone or with p.V726A, generally results in mild to moderate FMF severity, supporting its pathogenic role in particular ethnicity. These results contribute to understanding the clinical significance of the p.E148Q variant and considering the patient's need for Colchicine treatment. WHAT IS KNOWN: • The role of the p.E148Q variant in FMF is debated, with questions about whether it is a benign polymorphism or a pathogenic mutation. • The prevalence of MEFV variants can vary significantly among different ethnic groups. WHAT IS NEW: • The p.E148Q variant has clinical significance in particular ethnicities, as supported by a significant reduction in CRP levels following colchicine treatment. • The p.E148Q variant, whether alone or with p.V726A, generally results in mild to moderate FMF severity.

Pediatric Endophthalmitis Over the Last Five Decades: A Case Report and Systematic Review.

INTRODUCTION: Pediatric infectious endophthalmitis is a rare, severe ocular infection that can have devastating consequences. It may be exogenous or endogenous, with exogenous endophthalmitis being more common. Current data on the etiology, microbiology, antibiotic treatments and outcomes in pediatric cases is limited. PURPOSE: To summarize the etiology, microbiology, visual outcomes and management of pediatric endophthalmitis. METHODS: A literature review was conducted on cases of pediatric endophthalmitis published from 1980 to 2022, identified through searches of PubMed, Medline, Web of Science and Google Scholar databases. RESULTS: A total of 796 patients were included. Ocular trauma was the most common cause with 623 patients (78.3%), followed by posteye surgery with 100 patients (12.6%) and endogenous endophthalmitis with 67 patients (70 eyes) (8.4%). Among culture-positive cases, gram-positive microorganisms predominated. Treatment involved pars plana vitrectomy in 608 patients (76%) and intraocular antibiotics in 590 patients (74%). Favorable visual acuity (≥20/200) was achieved in 30.5% of patients, 20% had no light perception and 12.5% developed poor anatomical outcomes with phthisis bulbi. CONCLUSION: Our review provides insights into the etiology, epidemiology, microbiology, treatment and visual outcomes of pediatric endophthalmitis based on available literature worldwide.

Improving Management: Novel Guidelines for Diagnosing Urinary Tract Infection in Infants.

BACKGROUND: The diagnosis of urinary tract infection (UTI) in the pediatric field remains a topic of debate. In 2011, the American Academy of Pediatrics (AAP) introduced new guidelines for the diagnosis of UTI in patients 2-24 months old. However, concerns were raised regarding these guidelines. METHODS: This is a retrospective data extraction study that included patients 0-6 months of age who were examined in the pediatric emergency department between 2016 and 2021 and had a urine culture. For each patient, we recorded the diagnosis documented in the medical records, the diagnosis based on the AAP and Israeli guidelines, and the diagnosis according to our 2 proposed protocols. We then compared the percentage of UTI diagnoses according to each diagnostic guideline. RESULTS: A total of 1432 patients under the age of 6 months underwent urine culture testing during the study period. A total of 83 (5.81%) of these patients were diagnosed with UTI according to the AAP guidelines, 184 of the patients (12.8%) were diagnosed with UTI according to the Israeli guidelines, 102 (7.1%) and 109 (7.6%) of the patients were diagnosed with UTI according to our first and second proposed guidelines, respectively. CONCLUSIONS: We propose a new diagnostic method (guidelines II) that is suitable for patients older than 2 months, with obligatory criteria of abnormal urine test and a lower threshold for the colony count required for diagnosis compared to the AAP guidelines. Further research is required to examine the sensitivity and specificity of our proposed guidelines, so it may replace the current diverse guidelines.

COVID-19 in neonates and infants younger than 6 months - a mild viral illness.

A surge in pediatric COVID-19 cases was observed during the fifth wave (Omicron) of the COVID-19 pandemic. Little is known about the clinical features and disease course in neonates and young infants. To describe the clinical and laboratory features, disease course and complications of COVID-19 in neonates and infants younger than 6 months. A retrospective descriptive study in which data were collected from the electronic medical records of infants younger than 6 months, with positive nasal swab tests for COVID-19. Fifty-two infants younger than 6 months who tested positive for COVID-19 were admitted to our pediatric ER/department during the omicron wave of the COVID-19 pandemic, between December 2021 and December 2022. Twenty-one percent were discharged from the ER, while the others were hospitalized predominantly for observation or supportive treatment, with an average duration of hospitalization of 1.3 ± 0.7 days. No major complications were observed.   Conclusion: COVID-19 is a mild viral illness in young healthy infants with no major complications. What is Known: • Pediatric patients generally have a milder clinical presentation of COVID-19 but can also experience more severe symptoms and post-COVID phenomena. • Our knowledge of COVID-19 in neonates and young infants is limited, and guidelines for their diagnosis and management are lacking. What is New: • In neonates and young infants, COVID-19 infection is typically a mild viral illness with no major complications observed in the majority of cases. • Hospitalization may not be necessary for well-appearing infants with COVID-19, as long as their clinical and laboratory evaluations do not raise any concerns.

Pneumonia in the presentation of Kawasaki disease: The syndrome or a sequence of two diseases?

Two cases of Kawasaki disease (KD) presented as persistent lung consolidation associated with Group A Streptococcus and Influenza A co-infection, which resolved following intravenous immunoglobulin. Thus, pediatricians should consider the diagnosis of KD in the presence of pneumonia that is nonresponsive to antibiotic therapy with prolonged fever and inflammatory reactions.

Adherence of caregivers of children to advice provided by a National Poison Information Center.

INTRODUCTION: Most calls to poison information centers are from the public, pertaining to young children, and due to minor or nontoxic exposures. Rational poison center consultations can prevent unnecessary visits to emergency departments (EDs), callers' adherence to such advice is required. OBJECTIVES: Estimate adherence of callers from the public to the poison center concerning exposures of young children to the advice provided by the clinical toxicologist, estimate the number of unnecessary ED visits of these children prevented by poison center consultations. METHODS: Prospective, phone-survey cohort study. Calls from the public concerning children under 6 years old were recorded and collected, telephone follow-up was performed within two weeks. Data collected included: demographics, exposure, severity, triage advised, adherence to the advice, reasons for nonadherence, and what the caller would have done had the poison center been unavailable. The study was conducted over 3 months representing different seasons and holidays times during a 1-year period. RESULTS: 1762 callers completed the telephone follow-up; 1443 (81.9%) cases were asymptomatic at the time of call; 1452 (82.3%) were advised to remain at home, 175 (9.9%) and 137 (7.8%) were referred to community clinics and EDs, respectively; 1648 (93.5%) of callers adhered to the advice provided; highest adherence rate was among callers advised to stay home (98.3%, 1427), and 78.9% (108) and 62.1% (109) among callers referred to EDs and community clinics, respectively. Among callers advised to stay home, 491 stated that they would have referred themselves to the ED had the poison center been unavailable, an annual estimate of 4309 cases. The main parameter predicting nonadherence was calls made during night shift. CONCLUSIONS: The high adherence of callers to the poison center consultation suggests it plays an important role in preventing unnecessary ED visits of young children due to poison exposures, and may substantially reduce ED load and costs.