RESUMO
Chest radiography is a frequently used imaging modality in children. However, only fair to moderate inter-observer agreement has been reported between chest radiograph interpreters. Most studies were not performed in real-world clinical settings. Our aims were to examine the agreement between emergency department pediatricians and board-certified radiologists in a pediatric real-life setting and to identify clinical risk factors for the discrepancies. Included were children aged 3 months to 18 years who underwent chest radiography in the emergency department not during the regular hours of radiologist interpretation. Every case was reviewed by an expert panel. Inter-observer agreement between emergency department pediatricians and board-certified radiologists was assessed by Cohen's kappa; risk factors for disagreement were analyzed. Among 1373 cases, the level of agreement between emergency department pediatricians and board-certified radiologists was "moderate" (k = 0.505). For radiographs performed after midnight, agreement was only "fair" (k = 0.391). The expert panel identified clinically relevant disagreements in 260 (18.9%) of the radiographs. Over-treatment of antibiotics was identified in 121 (8.9%) of the cases and under-treatment in 79 (5.8%). In a multivariable logistic regression, the following parameters were found to be significantly associated with disagreements: neurological background (p = 0.046), fever (p = 0.001), dyspnea (p = 0.014), and radiographs performed after midnight (p = 0.007). CONCLUSIONS: Moderate agreement was found between emergency department pediatricians and board-certified radiologists in interpreting chest radiographs. Neurological background, fever, dyspnea, and radiographs performed after midnight were identified as risk factors for disagreement. Implementing these findings could facilitate the use of radiologist expertise, save time and resources, and potentially improve patient care. WHAT IS KNOWN: ⢠Only fair to moderate inter-observer agreement has been reported between chest radiograph interpreters. ⢠Most studies were not performed in real-world clinical settings. Clinical risk factors for disagreements have not been reported. WHAT IS NEW: ⢠In this study, which included 1373 cases at the emergency department, the level of agreement between interpreters was only "moderate." ⢠The major clinical parameters associated with interpretation discrepancies were neurological background, fever, dyspnea, and interpretations conducted during the night shift.
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Serviço Hospitalar de Emergência , Variações Dependentes do Observador , Radiografia Torácica , Humanos , Criança , Pré-Escolar , Radiografia Torácica/estatística & dados numéricos , Masculino , Feminino , Lactente , Adolescente , Fatores de Risco , Radiologistas/estatística & dados numéricos , Pediatras/estatística & dados numéricos , Estudos Retrospectivos , Competência Clínica/estatística & dados numéricosRESUMO
Postnatal iron deficiency, especially from ages 6 to 24 months, has long-term consequences lasting into adolescence and adulthood. We aimed to characterize iron deficiency anemia among infants from one central Israeli district by demographic and laboratory parameters. A retrospective chart review was performed on all infants from a single district who had undergone a complete blood count as part of a routine survey for iron deficiency anemia during 2010-2021. Data retrieved included hemoglobin levels, mean corpuscular volume, and demographic features: sex, sector (non-ultraorthodox Jew, ultraorthodox Jew, and Arab), socioeconomic status, and type of residence. The study group comprised 101,650 infants, aged 9 to 18 months. Iron deficiency anemia, defined as a hemoglobin level <11 g/dL and mean corpuscular volume <70 fl was observed in 4296 (4.2%) of the study infants. Iron deficiency anemia was more prevalent among Arab and ultraorthodox Jewish infants, than non-ultraorthodox Jewish infants (6.6% vs. 6% vs. 3%, respectively). It was also more prevalent among infants of low socioeconomic status, and relatively common among infants of rural residence. We identified two specific sub-populations at risk of developing iron deficiency anemia: Arab and ultraorthodox Jewish infants. We recommend enhancing the nationwide intervention program for both clinicians and parents, thereby treating iron deficiency anemia promptly to avoid short- and long-term deleterious health consequences.
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Anemia Ferropriva , Humanos , Anemia Ferropriva/epidemiologia , Anemia Ferropriva/sangue , Estudos Retrospectivos , Lactente , Masculino , Feminino , Israel/epidemiologia , Judeus/estatística & dados numéricos , Árabes , PrevalênciaRESUMO
BACKGROUND: Group A Streptococcus (GAS) is the predominant bacterial pathogen of pharyngitis in children. However, distinguishing GAS from viral pharyngitis is sometimes difficult. Unnecessary antibiotic use contributes to unwanted side effects, such as allergic reactions and diarrhea. It also may increase antibiotic resistance. OBJECTIVES: To evaluate the effect of a machine learning algorithm on the clinical evaluation of bacterial pharyngitis in children. METHODS: We assessed 54 children aged 2-17 years who presented to a primary healthcare clinic with a sore throat and fever over 38°C from 1 November 2021 to 30 April 2022. All children were tested with a streptococcal rapid antigen detection test (RADT). If negative, a throat culture was performed. Children with a positive RADT or throat culture were considered GAS-positive and treated antibiotically for 10 days, as per guidelines. Children with negative RADT tests throat cultures were considered positive for viral pharyngitis. The children were allocated into two groups: Group A streptococcal pharyngitis (GAS-P) (n=36) and viral pharyngitis (n=18). All patients underwent a McIsaac score evaluation. A linear support vector machine algorithm was used for classification. RESULTS: The machine learning algorithm resulted in a positive predictive value of 80.6 % (27 of 36) for GAS-P infection. The false discovery rates for GAS-P infection were 19.4 % (7 of 36). CONCLUSIONS: Applying the machine-learning strategy resulted in a high positive predictive value for the detection of streptococcal pharyngitis and can contribute as a medical decision aid in the diagnosis and treatment of GAS-P.
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Aprendizado de Máquina , Faringite , Infecções Estreptocócicas , Streptococcus pyogenes , Humanos , Faringite/microbiologia , Faringite/diagnóstico , Criança , Projetos Piloto , Infecções Estreptocócicas/diagnóstico , Infecções Estreptocócicas/tratamento farmacológico , Pré-Escolar , Masculino , Feminino , Streptococcus pyogenes/isolamento & purificação , Adolescente , Sistemas de Apoio a Decisões Clínicas , Antibacterianos/uso terapêutico , Antibacterianos/administração & dosagem , Doença Aguda , Diagnóstico Diferencial , AlgoritmosRESUMO
A new COVID-19 vaccine was introduced in a remarkably short period of time. Public and healthcare workers (HCWs) were concerned about the safety of the vaccine, especially in light of the use of new technologies. A review regarding attitudes towards COVID-19 vaccination found a 22.5% hesitancy rate among HCWs. Online anonymous questionnaires were delivered using a web-based surveying platform to community HCWs in a central district in Israel from 3 to 19 January 2021. The real COVID-19 vaccination data were collected between the beginning of the vaccination rollout and the end of the month after the survey as well as the real vaccination rate among the general population. Of the 3,172 HCWs, 549 (17%) responded to the questionnaire. The highest positive attitude towards the vaccine was among physicians (95%), while nurses showed the highest level of hesitation (14%) for a specific sector (P < 0.05). However, the real vaccination rates were similar among physicians (63%) and nurses (62%). Surprisingly, the total vaccination rate of HCWs was substantially lower (52%) than that of the general population (71%). The main vaccination motivators were the social and economic effects of the COVID-19 epidemic. Focused strategies to reduce the level of hesitancy among HCWs are needed.
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COVID-19 , Vacinas , Humanos , Vacinas contra COVID-19 , Israel/epidemiologia , COVID-19/epidemiologia , COVID-19/prevenção & controle , Vacinação , Pessoal de SaúdeRESUMO
Benign transient hyperphosphatasemia is a condition characterized by greatly increased serum alkaline phosphatase (ALP) without laboratory or clinical evidence of underlying bone or liver disease. It is usually identified incidentally during routine blood testing. We describe the demographic and clinical characteristics of benign transient hyperphosphatasemia in a cohort of healthy infants and children. We performed a retrospective review of electronic medical records on all children aged 1 day to 18 years with a diagnosis of benign transient hyperphosphatasemia, who were registered at 3 central districts in Israel from January 1, 2000, to December 31, 2020. The demographic and clinical characteristics were retrieved from the medical files. The study group comprised 382 infants and children aged from 2 months to 14 years who had serum ALP > 1000 U/L (mean 2557 U/L, range 1002-14,589 U/L). The majority of participants (87%) were aged up to 24 months (median age 14 months, IQR 10-18 months). Fifty-four percent of the study participants were male. In many patients, there was a history of recent fever, gastroenteritis or diarrhea, acute otitis media, and viral infection. A seasonal peak was observed in autumn-early winter, but this may be a detection bias. CONCLUSION: Benign transient hyperphosphatasemia seems to be a disorder described among otherwise healthy infants and children, which resolves spontaneously. Other known causes of markedly elevated serum ALP should be excluded, especially bone and liver disease. Higher awareness and recognition of this benign condition are important in order to avoid unnecessary tests and parental anxiety. WHAT IS KNOWN: ⢠Benign transient hyperphosphatasemia is a benign condition characterized by greatly increased serum alkaline phosphatase without laboratory or clinical evidence of underlying bone or liver disease, which usually resolves spontaneously, with no intervention. WHAT IS NEW: ⢠In the case of an incidental finding of high serum alkaline phosphatase in an otherwise healthy infant or child with no other clinical or laboratory suspicion of bone or liver disease, we recommend repeating the alkaline phosphatase level within a few months in order to confirm the resolution of this condition. ⢠When benign transient hyperphosphatasemia is suspected, a "wait and see" approach is optimal in order to avoid unnecessary investigations and parental anxiety.
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Fosfatase Alcalina , Hepatopatias , Humanos , Masculino , Criança , Lactente , Feminino , Estudos Retrospectivos , Hepatopatias/diagnóstico , Osso e Ossos , DiarreiaRESUMO
OBJECTIVE: To compare the rate of the administration of the Pfizer-BioNTech COVID-19 vaccinations between adolescents diagnosed with attention-deficit/hyperactivity disorder (ADHD) and non-ADHD subjects. METHOD: A retrospective chart review was performed on all adolescents aged 12-17 years registered at a central district in Israel from January 1st 2021 to October 31st 2021. RESULTS: Of the 46,544 subjects included in the study, 8241 (17.7%) were diagnosed with ADHD. Of them, 3% were PCR-COVID-19 positive. Among the patients with ADHD, the older adolescents were more likely to be vaccinated: 48.8% of those aged 12-15 years were vaccinated versus 59.6% of patients aged 16-17 years. The ultra-orthodox Jewish and Arab adolescents in the ADHD group were far less likely to be vaccinated (22.9% and 34.6%, respectively), compared to the adolescents with ADHD in the general population (60.5%). Girls were also somewhat more likely to be vaccinated. CONCLUSIONS: Adolescents diagnosed with ADHD had a higher COVID-19 vaccination rate compared to their non-ADHD counterparts. The vaccine uptake was lower amongst Arab and ultra-orthodox Jewish populations.
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Transtorno do Deficit de Atenção com Hiperatividade , COVID-19 , Feminino , Humanos , Adolescente , Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Vacinas contra COVID-19 , Estudos Retrospectivos , COVID-19/prevenção & controle , Cooperação do PacienteRESUMO
BACKGROUND: Group A Streptococcus (GAS), the predominant bacterial pathogen of pharyngitis, is sometimes difficult to distinguish clinically from viral pharyngitis. Despite the high prevalence of viral pharyngitis in children, antibiotic treatment is common. OBJECTIVES: To investigate the effectiveness of an antibiotic stewardship program (ASP) on antibiotic prescription in children with GAS pharyngitis (GAS-P) at a large pediatric community clinic. METHODS: Antibiotic prescription data were collected from October 2016 to March 2017 (pre-intervention period) and from October 2017 to March 2018 (post-intervention period). The intervention was a one-day seminar for primary care pediatricians on the diagnosis and treatment of GAS-P in children according to national guidelines. RESULTS: The overall prevalence of testing differed between the two time periods. There was a decrease in children who did not undergo any testing (from 68% to 63%), an increase in streptococcal rapid antigen detection testing (28% to 32%), and a slight increase in throat cultures (3% to 4%) (P = 0.02). There was no change in the types of antibiotics prescribed before and after the intervention (P = 0.152). CONCLUSIONS: The ASP resulted in a slight reduction in the percentage of children who did not undergo laboratory testing for GAS-P and a slight reduction in the percentage of children who received antibiotic treatment. The ASP did not reduce the use of broad-spectrum antibiotics and macrolides.
Assuntos
Gestão de Antimicrobianos , Faringite , Infecções Estreptocócicas , Criança , Humanos , Infecções Estreptocócicas/diagnóstico , Infecções Estreptocócicas/tratamento farmacológico , Infecções Estreptocócicas/epidemiologia , Faringite/diagnóstico , Faringite/tratamento farmacológico , Streptococcus pyogenes , Antibacterianos/uso terapêuticoRESUMO
BACKGROUND: On 18 March 2020, the Israeli Health Ministry issued lockdown orders to mitigate the spread of coronavirus disease 2019 (COVID-19). OBJECTIVES: To assess the association of lockdown orders on telemedicine practice and the effect of social distancing on infectious diseases in a primary care community pediatric clinic as well as the rate of referrals to emergency departments (ED) and trends of hospitalization. METHODS: Investigators performed a retrospective secondary data analysis that screened for visits in a large pediatric center from 1 January to 31 May 2020. Total visits were compared from January to December 2020 during the same period in 2019. Visits were coded during the first lockdown as being via telemedicine or in-person, and whether they resulted in ED referral or hospitalization. Month-to-month comparisons were performed as well as percent change from the previous year. RESULTS: There was a sharp decline of in-person visits (24%) and an increase in telemedicine consultations (76%) during the first lockdown (p < 0.001). When the lockdown restrictions were eased, there was a rebound of 50% in-person visits (p < 0.05). There was a profound decrease of visits for common infectious diseases during the lockdown period. Substantial decreases were noted for overall visits, ED referrals, and hospitalizations in 2020 compared to 2019. CONCLUSIONS: COVID-19 had a major impact on primary care clinics, resulting in fewer patient-doctor encounters, fewer overall visits, fewer ED referrals, and fewer hospitalizations.
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COVID-19 , COVID-19/epidemiologia , COVID-19/prevenção & controle , Criança , Controle de Doenças Transmissíveis , Serviço Hospitalar de Emergência , Humanos , Quarentena , Estudos Retrospectivos , SARS-CoV-2RESUMO
BACKGROUND: Posterior reversible encephalopathy syndrome (PRES) is a distinct clinico-radiologic entity that can occur following allogeneic hematopoietic stem cell transplantation, often in the context of treatment with calcineurin inhibitors (CNIs). PROCEDURE: We describe the results of CNI-free management of 14 children with PRES and review the clinical and radiologic manifestations of their presentation. RESULTS: Discontinuation of CNIs usually resulted in remission of PRES, but patients with established graft versus host disease (GVHD) at the time when treatment was changed often experienced progressive GVHD despite administration of immune suppressive and modulating treatments. All but three patients experienced full neurologic recovery. Nine children died as a result of either GVHD, disease relapse, or severe infection. CONCLUSIONS: Discontinuation of CNIs results in neurologic improvement in most cases, but superior alternative immune modulatory treatment is needed to prevent progression of established GVHD.
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Inibidores de Calcineurina/efeitos adversos , Doença Enxerto-Hospedeiro/terapia , Transplante de Células-Tronco Hematopoéticas/efeitos adversos , Síndrome da Leucoencefalopatia Posterior/etiologia , Adolescente , Criança , Pré-Escolar , Feminino , Seguimentos , Doença Enxerto-Hospedeiro/etiologia , Neoplasias Hematológicas/terapia , Humanos , Masculino , Prognóstico , Transplante HomólogoRESUMO
Purpose To describe the clinical presentation and implications of mitochondrial DNA depletion disorder of two siblings with early fatal encephalomyopathy and a novel mutation in the RRM2B gene. The relevant literature is reviewed. Methods We describe two brothers aged 2.5 months and 1 month, respectively, who were hospitalized in a tertiary pediatric medical center for evaluation of focal seizures, hypotonia, poor feeding, failure to thrive, lactic acidosis, and developmental delay. The older brother also had seizures, and the younger had severe bilateral neurosensory deafness. Results Genetic sequencing of the RRM2B gene revealed the same novel mutation in both the siblings. Both children died due to respiratory failure at ages 3 and 2.5 months, respectively. Conclusion The combination of neonatal hypotonia, developmental delay, and lactic acidosis should raise a clinician's suspicion of a mitochondrial depletion disorder and prompt further genetic studies.
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Proteínas de Ciclo Celular/genética , DNA Mitocondrial , Encefalomiopatias Mitocondriais/genética , Mutação , Ribonucleotídeo Redutases/genética , Diagnóstico Diferencial , Evolução Fatal , Humanos , Lactente , Masculino , Encefalomiopatias Mitocondriais/fisiopatologia , Fenótipo , Insuficiência Respiratória , IrmãosRESUMO
Bone crises in type 1 Gaucher disease are reported in long bones and occasionally in weight bearing bones and other bones, but rarely in small bones of the hands and feet. We retrospectively examined the incidence of bone pain in patients followed at the Rabin Medical Center, Israel, before and following the initiation of enzyme replacement therapy (ERT) and evaluated them for bone crises. Of 100 type I Gaucher disease patients, 30 (30%) experienced one or more bone crises. Small bone crises represented 31.5% of all bone crises and were always preceded by crises in other bones. While the incidence of long bone crises reduced after the initiation of ERT, small bone crises increased. Almost 60% of patients with bone crises were of the N370S/84GG genotype suggesting a greater susceptibility of N370S/84GG patients to severe bone complications. These patients also underwent the greatest number of splenectomies (70.6% of splenectomised patients). Splenectomised patients showed a trend towards increased long and small bone crises after surgery. Active investigation of acute pain in the hands and feet in patients in our cohort has revealed a high incidence of small bone crises. Physicians should consider imaging studies to investigate unexplained pain in these areas.
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Osso e Ossos/patologia , Ossos do Pé/patologia , Doença de Gaucher/complicações , Ossos da Mão/patologia , Ossos da Perna/patologia , Dor/etiologia , Adolescente , Adulto , Criança , Terapia de Reposição de Enzimas/efeitos adversos , Feminino , Predisposição Genética para Doença , Genótipo , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Esplenectomia , Adulto JovemRESUMO
BACKGROUND: Little has been published in the medical literature on serum and cerebrospinal fluid (CSF) methotrexate (MTX) levels in children with brain tumors. METHODS: Matched 24-hour serum and CSF MTX levels were studied after 113 treatments in 35 brain tumors patients. RESULTS: A correlation between the 24-hour serum levels of MTX and MTX dosage was observed after 113 treatments in all 35 patients (r=0.39, P<0.001) but no statistical difference was found between CSF MTX levels in the irradiated and nonirradiated groups (P=0.12). Nonirradiated children received a lower dose of MTX (12.3±4.8 cf 14.8±3.7) (P=0.002). The 24-hour MTX CSF levels of these 2 groups were also found to be different (the nonirradiated group 7.6±9.8 cf 12.5±0.15.3). Using the Levene test for variances we found that these variances were not equal and therefore we used the Welch test which resulted in a P-value of 0.04. However, when an analysis of covariance was performed looking at evidence of CSF disease and MTX dose the radiation difference was no longer significant (P=0.15). The 24-hour CSF MTX levels in children without evidence of active CSF disease were consistently lower than those with active disease using a mixed-model analysis (P=0.002). Although a 24-hour CSF MTX level of at least 1 µM was observed after infusions of >5 g/m MTX in previously irradiated children and after infusion of ≥10 g/m in nonirradiated children this difference did not reach statistical significance. CSF MTX levels plateau at doses of MTX 15 g/m putting in doubt the value of administering even higher doses of MTX. CONCLUSIONS: The 24-hour MTX CSF levels are higher in patients with active CSF disease. Doses of <10 gm/m in children with brain tumors may not achieve a guaranteed 24-hour MTX CSF level of 1 µM. There may be little value in a given dose of >15 g/m MTX as CSF levels plateau at this dose.
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Antimetabólitos Antineoplásicos/uso terapêutico , Neoplasias Encefálicas/tratamento farmacológico , Metotrexato/uso terapêutico , Adolescente , Neoplasias Encefálicas/líquido cefalorraquidiano , Neoplasias Encefálicas/mortalidade , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Metotrexato/sangue , Metotrexato/líquido cefalorraquidiano , Adulto JovemRESUMO
We evaluated the effect of infrared thermography (IRT) on the clinical assessment of bacterial and viral pharyngitis and its impact on the predictive value of the McIsaac score algorithm for streptococcal pharyngitis in children. We also investigated if IRT could distinguish between bacterial and viral pharyngitis. The study included children aged 2-17 years presenting with sore throat and fever over 38°C from November 1, 2021, to April 30, 2022. Of the 76 assessed children, 16 were excluded due to missing data or technical issues, leaving 60 children (32 males, 28 females) divided into three groups: Group A with streptococcal pharyngitis (N = 30), viral pharyngitis (N = 16), and healthy controls (N = 14). McIsaac score and IRT imaging showed a 90% positive predictive value for streptococcal pharyngitis. While IRT alone could not distinguish between bacterial and viral infections, it significantly increased the predictive value when combined with the McIsaac score.
RESUMO
Infection and lockdowns resulting from COVID-19 have been suggested to increase the prevalence and treatment rates of Attention Deficit/Hyperactivity Disorder (ADHD). To accurately estimate the pandemic's effects, pre-pandemic data can be used to estimate diagnosis and treatment rates during the COVID-19 years as if the COVID-19 pandemic did not occur. However, accurate predictions require a broad dataset, both in terms of the number of cases and the pre-pandemic timeframe. In the current study, we modeled monthly ADHD diagnosis and treatment rates over the 18 years preceding the COVID-19 pandemic. The dataset included â¼3 million cases for individuals aged 6 to 18 from the Clalit Health Services' electronic database. Using a trained model, we projected monthly rates for post-lockdown and post-infection periods, enabling us to estimate the expected diagnosis and treatment rates without the COVID-19 pandemic. We then compared these predictions to observed data, stratified by age groups, gender, and socioeconomic status. Our findings suggest no influence of the COVID-19 pandemic on ADHD diagnosis or treatment rates. We show that a narrower timeframe for pre-COVID-19 data points can lead to incorrect conclusions that COVID-19 affected ADHD diagnosis rates. Findings are discussed, given the assumed impact of the COVID-19 pandemic on ADHD.
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Transtorno do Deficit de Atenção com Hiperatividade , COVID-19 , Classe Social , Humanos , Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Transtorno do Deficit de Atenção com Hiperatividade/terapia , COVID-19/epidemiologia , COVID-19/diagnóstico , Criança , Masculino , Feminino , Adolescente , Estudos de Coortes , Fatores Etários , Fatores Sexuais , Prevalência , SARS-CoV-2RESUMO
Urinary tract infections (UTIs) in childhood are common and are associated with considerable acute morbidity and long-term complications. The need for updated data to optimize empiric antibiotic therapy is crucial. We aimed to investigate the pathogens causing pediatric community acquired UTIs, their correlation with demographic characteristics, and trends in their antimicrobial resistance. This nationwide cross-sectional study included all 53,203 children (<18 years) diagnosed with UTI in community outpatient clinics in the following selected years: 2007, 2011, 2015, 2019 and 2021. Escherichia coli (E. coli) (82.1%) was the most common uropathogen, followed by Enterobacter, Klebsiella, Proteus, Pseudomonas, and Enterococcus species. The bacterial distribution displayed statistically significant (p < 0.0001) gender- and sector-specific patterns with a higher relative prevalence of non-E. coli UTI in Jewish and males. The rate of extended-spectrum beta-lactamase-positive E. coli increased substantially and significantly (p < 0.001) from only 6.1% in 2007 to 25.4% in 2021. Most non-E. coli uropathogens exhibited resistance to commonly used empiric antibiotics for UTIs in children. These findings are significant in guiding optimal empiric antibiotic treatment for pediatric community acquired UTIs. The resistance of uropathogens to antimicrobials is region- and time-dependent. Therefore, the periodic and local assessment of antibiotic resistance trends is essential to update guidelines and provide the most appropriate antibacterial therapy for children with UTIs.
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Thrombocytosis is a common finding and is a frequent cause of referral for further investigation. The MPL Baltimore (Lys39Asn) mutation has been reported as a cause of thrombocytosis in 7% of African Americans. We describe an 11-month-old Ethiopian Jewish boy referred for evaluation of thrombocytosis who was found to be homozygous for MPL Baltimore. So far, there is no indication whether patients with thrombocytosis who have this mutation, particularly homozygotes, are at increased risk of thrombotic or hemorrhagic complications. Nevertheless, this entity should be considered in the differential diagnosis of every patient with thrombocytosis, particularly those of African origin.
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Mutação/genética , Receptores de Trombopoetina/genética , Trombocitose/genética , Homozigoto , Humanos , Lactente , Masculino , Literatura de Revisão como Assunto , Trombocitose/patologiaRESUMO
OBJECTIVE: Interleukin-1 (IL-1) inhibitors are approved for treating familial Mediterranean fever (FMF) that is resistant to colchicine. However, continued concomitant treatment with colchicine is imperative, as it is the only drug proven to prevent secondary amyloidosis. We aimed to compare the adherence to colchicine between patients with colchicine-resistant FMF (crFMF) who were treated with IL-1 inhibitors and patients with colchicine-sensitive FMF (csFMF) who were treated only with colchicine. METHODS: The databases of Maccabi Health Services, a 2.6-million-member state-mandated health provider in Israel were searched for patients with FMF diagnosis. The medication possession ratio (MPR), calculated from the day of the first colchicine purchase (index date) until the last colchicine purchase was the main outcome measure. Patients with crFMF were matched in a 1:4 ratio to patients with csFMF. RESULTS: The final cohort included 4526 patients. Of them, 108 (2.4%) were with crFMF, and were matched to 432 with csFMF. The total mean MPR in each of the matched groups was similar (78.9 ± 41.4 and 82.5 ± 80.6, respectively, P = 0.5). Statistically significant differences in MPR were not found between the groups according to age or duration of colchicine use. However, adherence to colchicine was insufficient (MPR<80%) among more than 50% of the patients in both groups. CONCLUSION: In contrast to initial concerns, adherence to colchicine was similar between patients with crFMF and csFMF. However, in both groups, adherence to colchicine was poor. Education of both caregivers and patients is essential to increase adherence.
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Amiloidose , Febre Familiar do Mediterrâneo , Humanos , Amiloidose/tratamento farmacológico , Amiloidose/prevenção & controle , Colchicina/farmacologia , Colchicina/uso terapêutico , Febre Familiar do Mediterrâneo/tratamento farmacológico , Febre Familiar do Mediterrâneo/diagnóstico , Interleucina-1 , Projetos de PesquisaRESUMO
BACKGROUND: Wilson disease is caused by pathogenic variants in the ATP7B gene which encodes a copper-transporting ATPase. AIMS: Describe a common founder pathogenic variant among Bukharan Jews and to assess its prevalence, clinical features, and outcome. METHODS: The cohort consisted of patients of Bukharan Jewish descent diagnosed with Wilson disease at a tertiary pediatric medical center in 2013-2018. Clinical and genetic data were collected and analyzed. RESULTS: Six patients from 4 unrelated families who were homozygous for the c.3784G > T p.(Val1262Phe) pathogenic variant in ATP7B were identified. Five presented with elevated aminotransferase levels, and one, with acute liver failure. Mean age at diagnosis was 8.7 years (5-12.5). Serum ceruloplasmin level was extremely low in all patients (1.9-7 mg/dL; mean 3.2(. The variant was identified in a heterozygous state in 5/153 Bukharan Jews; 2/33 from our local exome database and 3/120 healthy unrelated Bukharan Jews in another cohort, for an estimated carrier frequency of â¼1:30. CONCLUSIONS: We report a common founder pathogenic variant in the ATP7B gene among Bukharan Jews associated with severe early-onset Wilson disease. Given the clinical severity, high frequency of the variant, and being a treatable disease, its inclusion in pre-symptomatic screening in the Bukharan Jewish community should be considered. Furthermore, WD should be part of future genetic newborn screening programs in Israel and worldwide, to enable early treatment and prevention of future life-threatening complications.
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Degeneração Hepatolenticular , Recém-Nascido , Humanos , Criança , Degeneração Hepatolenticular/genética , Degeneração Hepatolenticular/epidemiologia , Judeus/genética , Israel/epidemiologia , ATPases Transportadoras de Cobre/genética , Testes Genéticos , Heterozigoto , MutaçãoRESUMO
BACKGROUND: Many primary school children withhold urine and stool whilst at school for various reasons. Limited toilet access and the failure to provide safe, sanitary toilets are putting children at risk for toilet avoidance behavior. OBJECTIVE: We aimed to examine personal hygiene, environmental conditions, the perception of these on children, and their toilet use in primary schools. STUDY DESIGN: Children aged 6-12 and their parents were asked to complete a self-report questionnaire regarding toilet behavior and the perception of school toilet standards. RESULTS: The main findings are listed below using the data from the questionnaire. DISCUSSION: We found that 9% and 63% of the children avoided urination and defecating at school, respectively. Similar results were reported previously. The participants' perceptions regarding the environmental conditions of school toilets and conditions revealed that 34% of the children felt that the toilets were dirty or very dirty. Around one-third of them reported a lack of toilet paper sometimes or most of the time. These unsatisfying hygienic conditions of school toilets can be easily solved. Unfortunately, 46% of the children in our study experienced bullying in school toilets. These worrisome data are seldom reported in other studies. The urination habits of the girls, who mostly preferred to partially squat or stand may lead to dysfunctional voiding and incomplete bladder emptying. Our study was limited by the relatively small population, the subjectiveness of the self-reporting questionnaire, and the voiding and defecation habits of the investigated children during school hours. These hours do not necessarily reflect the children's habits after school hours and during the weekends. Despite these limitations, the discussed issues regarding personal hygiene and the environmental conditions in the sampled primary schools are extremely important. CONCLUSION: Nearly half of the school children had negative perceptions of school toilets. This should raise awareness and concern for school staff to consider and investigate potential facilities improvement in light of the impact observed here. Implementation of appropriate education and a better environment of toilet facilities and security is important for the children's well-being.
Assuntos
Aparelho Sanitário , Feminino , Criança , Humanos , Estudos de Coortes , Banheiros , Instituições Acadêmicas , HigieneRESUMO
Objective: Three aims: to elucidate determinants associated with COVID-19 vaccine uptake in children and the association with parental vaccination; to compare rates of PCR-positive SARS-CoV-2 results between vaccinated and unvaccinated children; to estimate the rate of parental COVID-19 vaccination and its association with the vaccination rate of their children. Methods: We performed a retrospective chart review of all children aged 5-11 years registered at a central district in Israel from November 21st, 2021 to April 30th, 2022, and characterized COVID-19 vaccinated vs. unvaccinated individuals. Data retrieved from the electronic medical files included: demographics [age, gender, sector, socioeconomic status (SES)]; COVID-19 vaccination (first and second doses) and influenza vaccination status; co-morbidities; and parental vaccinations for COVID-19. We divided the population into three distinct demographic groups: non-ultra-orthodox Jews (43,889 children), ultra-orthodox Jews (13,858 children), and Arabs (4,029 children). Results: Of the 61,776 children included in the study, 20,355 (32.9%) received at least one dose of the COVID-19 vaccine. Vaccination rates were similar amongst males and females and were higher in children aged 9-11 years compared to children aged 5-6 years. Multivariate analysis identified five independent determinants that were significantly (p < 0.001) associated with low vaccination rates: Arab and ultra-orthodox sectors (odds ratios: 0.235 and 0.617, respectively); children aged 5-8 years; children of low SES; and children who had not received previous seasonal influenza vaccination. Relatively high vaccination rates were noted amongst children with the following medical co-morbidities: treatment with biological agents (42.9%); solid tumor transplantation (42.9%); type 1 diabetes mellitus (38.5%), asthma (38.2%), and attention deficit and hyperactivity disorder (ADHD) (37.6%). Regarding the uptake of two vaccine doses among children with co-morbidities, it was highest in those with type 1 diabetes mellitus, heart failure, treatment with biological agents, asthma and obesity. Conclusion: This study highlights several pediatric sub-populations with low and high vaccine uptake. It is essential to focus on determinants associated with low vaccination rates.