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BACKGROUND: This study aimed to evaluate the bleeding phenotype and to conduct a comprehensive hemostatic evaluation in individuals with Noonan syndrome (NS), a dominantly inherited disorder caused by pathogenic variants in genes associated with the Ras/MAPK signaling pathway. METHODS: Children with a genetically confirmed diagnosis of NS underwent clinical evaluation, routine laboratory tests, platelet function testing, and thrombin generation (TG) assessment. RESULTS: The study included 24 children. The most frequently reported bleeding symptoms were easy bruising and epistaxis, while bleeding complications were observed in 15% of surgical procedures. Various hemostatic abnormalities were identified, including platelet dysfunction, von Willebrand disease, and clotting factor deficiencies. Abnormal platelet function was observed in 50% of the patients, and significantly lower TG parameters were found compared to controls. However, no significant correlation was observed between bleeding symptoms and TG results. CONCLUSIONS: The study suggests that the bleeding diathesis in NS is multifactorial, involving both platelet dysfunction and deficiencies of plasma coagulation factors. The potential role of TG assay as an ancillary tool for predicting bleeding tendencies in individuals with NS undergoing surgery warrants further investigation.
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Trastornos de las Plaquetas Sanguíneas , Trastornos Hemorrágicos , Hemostáticos , Síndrome de Noonan , Enfermedades de von Willebrand , Niño , Humanos , Trombina , Estudios Prospectivos , Síndrome de Noonan/genética , Síndrome de Noonan/complicaciones , Hemorragia/complicaciones , Enfermedades de von Willebrand/complicaciones , Trastornos de las Plaquetas Sanguíneas/genética , FenotipoRESUMEN
With the transition to distance-learning at the beginning of the COVID-19 outbreak, several countries required parents and their children to remain at home, under lockdown. Many parents found themselves taking on additional responsibilities regarding their children's education. However, children do not always interpret their parents' intentions as they intended. This study investigated this complex relationship, showing that parents' emphases regarding science learning changed during the first COVID-19 lockdown and in parallel, the relations between these emphases and their adolescent children's goal orientation and self-efficacy toward science learning also changed. In 2019, one year before the COVID-19 lockdown, the children's mastery and performance orientations toward science, and their self-efficacy in science were significantly correlated with their parent's attitudes toward science. In 2020, shortly after the end of the first COVID-19 lockdown, these relations remained significant, but in addition the parents' emphasis on performance became a significant predictor of the children's mastery and performance orientations, and of their self-efficacy in science. A small increase in the children's performance orientation and self-efficacy in science was seen, and only a small decline in their mastery orientation toward science. These findings contrast with what the literature indicates is typical at this age, when there are no lockdown conditions.
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OBJECTIVE: To evaluate the incidence and severity of ketoacidosis (DKA) at type 1 diabetes diagnosis during the first wave of the coronavirus disease 2019 (COVID-19) pandemic in Israel. RESEARCH DESIGN AND METHODS: A population-based study the product of a national collaboration of Israeli pediatric diabetes centers investigated the presentation of childhood-onset type 1 diabetes. The frequencies of DKA and severe DKA observed during the COVID-19 period from March 15, 2020 (commencement of the first nationwide lockdown) until June 30, 2020 were compared with the same periods in 2019, 2018, and 2017 using multivariable logistic regression, adjusting for age, sex, and socioeconomic position. RESULTS: During the COVID-19 period, DKA incidence was 58.2%, significantly higher than in 2019 (adjusted OR [aOR] 2.18 [95% CI, 1.31-3.60], P = 0.003); 2018 (aOR 2.05 [95% CI, 1.26-3.34], P = 0.004); and 2017 (aOR, 1.79 [95% CI, 1.09-2.93], P = 0.022). The incidence of severe DKA was 19.9%, significantly higher than in 2018 (aOR, 2.49 [95% CI, 1.20-5.19], P = 0.015) and 2017 (aOR, 2.73 [95% CI, 1.28-5.82], P = 0.009). In 2020, admissions and duration of stay in the intensive care unit were higher than in previous years (P = 0.001). During the COVID-19 pandemic, children aged 6-11 years had higher incidences of DKA (61.3% vs. 34.0%, 40.6%, and 45.1%, respectively, P = 0.012), and severe DKA (29.3% vs. 15.1%, 10.9%, and 5.9%, respectively, P = 0.002). CONCLUSIONS: The dramatic increase in DKA at presentation of childhood-onset type 1 diabetes during the COVID-19 pandemic mandates targeted measures to raise public and physician awareness.
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COVID-19/epidemiología , Diabetes Mellitus Tipo 1/diagnóstico , Cetoacidosis Diabética/epidemiología , Pandemias , Vigilancia de la Población , SARS-CoV-2 , Adolescente , Niño , Comorbilidad , Diabetes Mellitus Tipo 1/complicaciones , Diabetes Mellitus Tipo 1/epidemiología , Cetoacidosis Diabética/etiología , Femenino , Estudios de Seguimiento , Humanos , Incidencia , Israel/epidemiología , Masculino , Estudios RetrospectivosRESUMEN
BACKGROUND: Prevalence of youth-onset type 2 diabetes (T2D) has increased worldwide, paralleling the rise in pediatric obesity. Occurrence and clinical manifestations vary regionally and demographically. OBJECTIVES: We assessed the incidence, and clinical and demographic manifestations of youth-onset T2D in Israel. METHODS: In a national observational study, demographic, clinical, and laboratory data were collected from the medical records of children and adolescents, aged 10-18 years, diagnosed with T2D between the years 2008 and 2019. RESULTS: The incidence of youth-onset T2D in Israel increased significantly from 0.63/100,000 in 2008 to 3.41/100,000 in 2019. The study cohort comprised 379 individuals (228 girls [59.7%], 221 Jews [58.3%], mean age 14.7 ± 1.9 years); 73.1% had a positive family history of T2D. Mean body mass index (BMI) z-score was 1.96 ± 0.7, higher in Jews than Arabs. High systolic (≥ 130 mmHg) and diastolic blood pressure (≥ 85 mmHg) were observed in 33.7% and 7.8% of patients, respectively; mean glycosylated hemoglobin (A1c) level at diagnosis was 8.8 ± 2.5%. Dyslipidemia, with high triglyceride (>150 mg/dl) and low HDL-c (<40 mg/dl) levels, was found in 45.6% and 56.5%, respectively. Microalbuminuria and retinopathy were documented at diagnosis, 15.2% and 1.9%, respectively) and increased (36.7% and 4.6%, respectively) at follow-up of 2.9 ± 2.1 years. Criteria of metabolic syndrome were met by 224 (62.2%) patients, and fatty liver documented in 65%, mainly Jews. Psychosocial comorbidity was found in 31%. Treatment with metformin (45.6%), insulin (20.6%), and lifestyle modification (18%) improved glycemic control. CONCLUSION: Youth-onset T2D in Israel has increased significantly and presents a unique profile.
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Diabetes Mellitus Tipo 2 , Metformina , Adolescente , Niño , Estudios de Cohortes , Diabetes Mellitus Tipo 2/complicaciones , Diabetes Mellitus Tipo 2/epidemiología , Femenino , Hemoglobina Glucada/análisis , Humanos , Israel/epidemiología , Metformina/uso terapéuticoRESUMEN
Following low incidence of respiratory syncytial virus (RSV) infections in 2020 during the COVID-19 pandemic, we noted a resurgence in hospitalised children in spring/summer 2021 following relaxation of public health measures. We compared this outbreak to previous autumn/winter seasons. We found higher weekly case numbers and incidence rates, more cases from urban neighbourhoods with lower socioeconomic status, and similar clinical presentation and severity. Public health implications include the re-evaluation of palivizumab administration and the need for surge capacity planning.
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COVID-19 , Infecciones por Virus Sincitial Respiratorio , Virus Sincitial Respiratorio Humano , Antivirales/uso terapéutico , Niño , Humanos , Lactante , Israel/epidemiología , Pandemias , Distanciamiento Físico , Infecciones por Virus Sincitial Respiratorio/epidemiología , SARS-CoV-2RESUMEN
BACKGROUND: The coronavirus disease-2019 (COVID-19) social-distancing strategy, including 7 weeks of strict lockdown, enabled an extraordinary test of stay-at-home regulations, which forced a sedentary lifestyle on all children and adolescents. OBJECTIVES: To assess the lockdown effect on pediatric weight. METHODS: A retrospective-prospective cohort study at our hospital's pediatric outpatient clinics following the COVID-19 lockdown. Patients aged 0-18 years visiting the clinic were weighed and previous weight and other clinical data were collected from the medical charts. Weight-percentile-for-age standardization was calculated according to the U.S. Centers for Disease Control and Prevention and the World Health Organization growth tables. Pre- and post-lockdown weight-percentiles-for-age were compared using paired t-test. Multivariate analysis was conducted using linear regression model. RESULTS: The study was comprised of 229 patients; 117/229 (51.1%) were boys, 60/229 (26.2%) aged under 6 years. Total mean weight-percentile was significantly higher following the lockdown (40.44 vs. 38.82, respectively, P = 0.029). Boys had a significant post-lockdown weight-percentile rise (37.66 vs. 34.42, P = 0.014), whereas girls had higher baseline pre-quarantine weight-percentile of 43.42, which did not change. Patients younger than 6 years had a significant increase in weight-percentiles (39.18 vs. 33.58, P = 0.021). In multivariate analysis these correlations were preserved.
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COVID-19 , Cuarentena , Aumento de Peso , Adolescente , Niño , Preescolar , Estudios de Cohortes , Femenino , Humanos , Lactante , Masculino , Estudios Prospectivos , Estudios RetrospectivosRESUMEN
BACKGROUND: The effect of extended shift length on pediatric residency is controversial. Israeli residents perform shifts extending up to 26 hours, a practice leading to general dissatisfaction. In early 2020, during the coronavirus disease-2019 (COVID-19) pandemic, many Israeli hospitals transitioned from 26-hour shifts to 13-hour shifts in fixed teams (capsules) followed by a 24-hour rest period at home. The regulation changes enacted by the Israeli government during the COVID-19 pandemic provided a rare opportunity to assess perception by residents regarding length of shifts before and after the change. OBJECTIVES: To assess perception of pediatric residency in three aspects: resident wellness, ability to deliver quality healthcare, and acquisition of medical education following the change to the shorter shifts model. METHODS: We performed a prospective observational study among pediatric residents. Residents completed an online self-assessment questionnaire before and after the COVID-19 emergency regulations changed toward shorter shifts. RESULTS: Sixty-seven residents answered the questionnaires before (37) and after (30) the shift changes. The average score was significantly better for the 13-hour shifts versus the 26-hour shifts, except for questions regarding available time for research. There was a positive perception regarding the shorter night shifts model among pediatric residents, with an increase in general satisfaction and improvement in perception of general wellness, ability to deliver quality healthcare, and medical education acquisition. CONCLUSIONS: Following the change to shorter shift length, perception of pediatric residents included improvement in wellness, ability to deliver quality healthcare, and availability of medical education.
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Actitud del Personal de Salud , COVID-19 , Internado y Residencia , Atención al Paciente , Pediatría/educación , Calidad de Vida , Horario de Trabajo por Turnos/estadística & datos numéricos , Adulto , Femenino , Humanos , Masculino , Estudios Prospectivos , Factores de TiempoRESUMEN
BACKGROUND: Vitamin D (VitD) deficiency is prevalent in adolescents with type 1 diabetes (T1D) and is associated with diabetes-related vascular complications in adulthood. The objective of this clinical trial was to assess VitD treatment on endothelial function (EF) and markers of renal inflammation, in this patient group. METHODS: Adolescents with T1D with suboptimal levels of VitD (<37.5 nmol/L) were treated for 12 to 24 weeks with a VitD analog (VitD3 ) at doses of 1000 or 2000 IU daily. The primary end-point assessed the change in reactive hyperemia index (lnRHI), a measure of EF. Secondary end-points included changes in blood pressure, lipid profile, HbA1c and albumin creatinine ratio (ACR). Urinary cytokine/chemokine inflammatory profile was also assessed in a subset of subjects posttreatment. RESULTS: Two hundred and seventy-one subjects were screened for VitD status and 31 VitD deficient subjects with a mean age of 15.7 ± 1.4 years were enrolled and completed the study. Mean 25-OH-VitD levels significantly increased (33.0 ± 12.8 vs 67.0 ± 23.2 nmol/L, P < .01) with a significant improvement in EF following VitD supplementation (lnRHI 0.58 ± 0.20 vs 0.68 ± 0.21, P = .03). VitD supplementation did not significantly impact systolic blood pressure/diastolic blood pressure (SBP/DBP), lipids, HbA1c and ACR and no adverse effects were seen. Several urinary inflammatory cytokines/chemokines: MCP-3 (P < .01), epidermal growth factor (EGF) (P < .01) tumor necrosis factor ß (TNFß) (P = .01), interleukin-10 (IL-10) (P = .01), also significantly decreased post-VitD-treatment. CONCLUSIONS: Treatment with VitD was associated with an improvement in EF and reduced expression of urinary inflammatory markers in adolescents with T1D. This data is suggestive of an additional benefit of VitD supplementation on early markers of microvascular complications.
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Diabetes Mellitus Tipo 1/complicaciones , Angiopatías Diabéticas/prevención & control , Endotelio Vascular/efectos de los fármacos , Vitamina D/uso terapéutico , Vitaminas/uso terapéutico , Adolescente , Diabetes Mellitus Tipo 1/sangre , Diabetes Mellitus Tipo 1/orina , Angiopatías Diabéticas/etiología , Nefropatías Diabéticas/prevención & control , Nefropatías Diabéticas/orina , Femenino , Humanos , Masculino , Vitamina D/farmacología , Vitaminas/farmacologíaRESUMEN
Foscarnet is a main treatment for disseminated cytomegalovirus infection in immunocompromised patients. One of its documented side effects is hypocalcemia. Hypercalcemia, in contrast, was described anecdotally before, almost exclusively in adults with human immunodeficiency virus infection or posttransplantation. We describe a case of severe hypercalcemia during foscarnet treatment in an infant with IL-7 Rα deficient severe combined immunodeficiency, resolved after treatment cessation. We speculate that this unusual side effect is caused by foscarnet binding to the inorganic matrix of bone.
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Infecciones por Citomegalovirus/tratamiento farmacológico , Foscarnet/administración & dosificación , Hipercalcemia/inducido químicamente , Inmunodeficiencia Combinada Grave/inducido químicamente , Matriz Ósea/metabolismo , Foscarnet/metabolismo , Humanos , Hipercalcemia/etiología , Lactante , Subunidad alfa del Receptor de Interleucina-7/deficienciaRESUMEN
BACKGROUND: The 22q11.2 deletion syndrome (22q11.2DS) is a congenital multisystem anomaly characterized by typical facial features, palatal anomalies, congenital heart defects, hypocalcemia, immunodeficiency, and cognitive and neuropsychiatric symptoms. The aim of our study was to investigate T- and B-lymphocyte characteristics associated with 22q11.2DS. METHODS: Seventy-five individuals with 22q11.2DS were tested for T and B lymphocytes by examination of T-cell receptor rearrangement excision circles (TRECs) and B-cell κ-deleting recombination excision circles (KRECs), respectively. RESULTS: The 22q11.2DS individuals displayed low levels of TRECs, while exhibiting normal levels of KRECs. There was a significant positive correlation between TREC and KREC in the 22q11.2DS group, but not in controls. Both TREC and KREC levels showed a significant decrease with age and only TREC was low in 22q11.2DS individuals with recurrent infections. No difference in TREC levels was found between 22q11.2DS individuals who underwent heart surgery (with or without thymectomy) and those who did not. CONCLUSION: T-cell immunodeficiency in 22q11.2DS includes low TREC levels, which may contribute to recurrent infections in individuals with this syndrome. A correlation between T- and B-cell abnormalities in 22q11.2DS was identified. The B-cell abnormalities could account for part of the immunological deficiency seen in 22q11.2DS.
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Médula Ósea/patología , Síndrome de DiGeorge/genética , Síndrome de DiGeorge/patología , Timo/patología , Adolescente , Adulto , Linfocitos B/citología , Estudios de Casos y Controles , Niño , Síndrome de DiGeorge/inmunología , Femenino , Reordenamiento Génico de Linfocito B , Reordenamiento Génico de Linfocito T , Humanos , Masculino , Recombinación Genética , Linfocitos T/citología , Adulto JovenRESUMEN
Medication-induced diabetes (MID) is seen in children treated for acute lymphoblastic leukemia (ALL) mostly during induction, due to the use of l-asparaginase and glucocorticoids. Our objective was to assess whether MID during induction, is a risk factor for future impaired glucose tolerance (IGT), diabetes, or metabolic syndrome. Ninety survivors of pediatric ALL, ages 10 yr and older were recruited, 30 with history of MID and 60 controls. Waist/height ratio >0.5 was considered as an increased risk for central adiposity and insulin resistance. Lipid profile and an oral glucose tolerance test (OGTT) were performed. Study patients were older than controls (17.2 vs. 14.9, p < 0.05). The groups had similar sex distribution, body mass index (BMI) z-score, and Tanner staging. A waist/height ratio of >0.5 was seen in 60 and 31.7% of the study and control groups, respectively (p = 0.01). Increased frequency of IGT in the study group compared with the control group was seen (13.3 and 1%, respectively) (p = 0.07). We observed a trend toward higher proportion of patients with multiple features of metabolic syndrome in the study compared with control group (16.7 vs. 5%, p = 0.09). In conclusion, MID during induction may be an early marker for metabolic disturbances later in life. The higher rates of increased waist/height ratio, and subjects with multiple metabolic syndrome features, may predict a metabolic risk in children with history of MID. Rates of IGT were four fold higher in the study group although not statistically significant. MID may be a 'red flag' indicating the need for ongoing metabolic screening and lifestyle modifications to prevent future metabolic disease.
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Protocolos de Quimioterapia Combinada Antineoplásica/efectos adversos , Diabetes Mellitus/inducido químicamente , Intolerancia a la Glucosa/inducido químicamente , Quimioterapia de Inducción/efectos adversos , Síndrome Metabólico/inducido químicamente , Leucemia-Linfoma Linfoblástico de Células Precursoras/tratamiento farmacológico , Adolescente , Biomarcadores/sangre , Índice de Masa Corporal , Niño , Diabetes Mellitus/sangre , Diabetes Mellitus/epidemiología , Femenino , Intolerancia a la Glucosa/sangre , Intolerancia a la Glucosa/epidemiología , Hospitales Pediátricos , Humanos , Resistencia a la Insulina , Masculino , Síndrome Metabólico/sangre , Síndrome Metabólico/epidemiología , Obesidad Abdominal , Ontario/epidemiología , Obesidad Infantil , Leucemia-Linfoma Linfoblástico de Células Precursoras/sangre , Inducción de Remisión , Factores de Riesgo , Sobrevivientes , Relación Cintura-EstaturaRESUMEN
BACKGROUND: Glucose-6-phosphatase-ß (G6PC3) deficiency is characterized by congenital neutropenia and variable developmental disorders, including those of the cardiovascular system and the urogenital system (e.g., cryptorchidism) and a peculiar visibility of subcutaneous veins. METHODS: A patient with clinical findings suggestive of G6PC3 deficiency was investigated. Genetic, hematopathologic, immunologic, and endocrine work-up were performed. RESULTS: The reported patient had binucleotide deletion mutation in G6PC3 and displayed the full spectrum of clinical manifestations associated with G6PC3 deficiency including neutropenia. The reported patient had normal bone marrow cellularity without increased apoptosis, and his neutrophils displayed normal respiratory burst activity. Endocrine work-up revealed low testosterone levels, which did not respond to human chorionic gonadotropin stimulation, extremely elevated luteinizing hormone (LH) and follicle-stimulating hormone (FSH) levels, and undetectable anti-Müllerian hormone, all of which are suggestive of testicular failure or anorchia. CONCLUSION: Our report extends the knowledge about this syndrome and suggests a role for G6PC3 in testicular differentiation and formation. Urogenital dysmorphism could indeed be unrelated to G6PC3 and secondary to consanguinity. However, given the similar description of urogenital anomalies in previous reports of this syndrome, the dysmorphism in our patient is likely related.
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Enfermedades Carenciales/fisiopatología , Glucosa-6-Fosfatasa/genética , Hormonas Gonadales/sangre , Fenotipo , Testículo/anomalías , Árabes , Secuencia de Bases , Enfermedades Carenciales/genética , Humanos , Lactante , Recien Nacido Prematuro , Masculino , Datos de Secuencia Molecular , Análisis de Secuencia de ADN , Eliminación de Secuencia/genética , Testículo/metabolismoAsunto(s)
Aspirina/administración & dosificación , Colon/diagnóstico por imagen , Inmunoglobulinas Intravenosas/administración & dosificación , Síndrome Mucocutáneo Linfonodular , Neumatosis Cistoide Intestinal , Radiografía Abdominal/métodos , Antiinflamatorios no Esteroideos/administración & dosificación , Tratamiento Conservador/métodos , Vasos Coronarios/diagnóstico por imagen , Ecocardiografía/métodos , Humanos , Factores Inmunológicos/administración & dosificación , Lactante , Masculino , Síndrome Mucocutáneo Linfonodular/complicaciones , Síndrome Mucocutáneo Linfonodular/diagnóstico , Síndrome Mucocutáneo Linfonodular/tratamiento farmacológico , Neumatosis Cistoide Intestinal/diagnóstico , Neumatosis Cistoide Intestinal/etiología , Neumatosis Cistoide Intestinal/fisiopatología , Neumatosis Cistoide Intestinal/terapia , Resultado del TratamientoRESUMEN
BACKGROUND: Poorly controlled adolescents living with type 1 diabetes (T1D) and pump failure of insulin delivery leading to diabetic ketoacidosis (DKA) are still challenging in the western world. AIM: To investigate the effect of a combination modality of long-acting insulin for basal coverage and a pump for boluses, on the incidence of DKA and glycemic parameters in pediatric and young adults with poorly controlled T1D. METHODS: This multicenter, observational retrospective study included 55 patients (age range 3-25 years, 52.7% males) who were treated with the combination modality for a median of 18 months [(IQR)12,47], as part of their clinical care. Data were retrieved at initiation of the combined modality, after 6 months, and at last visit. RESULTS: Cohort's median age at combination modality initiation was 14.5 years [IQR12.4,17.3], and its median HbA1c level was 9.2% [IQR 8.2,10.2]. The main reasons for combination modality initiation were: (a) concern about sustained hyperglycemia on current management in 41.8%, (b) previous DKA episodes in 30.8%, and (c) refusal to wear a pump continuously in 14.6%. The percent of patients experiencing DKA who used the modality till end decreased from 25.4 to 8.8%. The frequency of DKA events per patient month decreased after 6 months from 0.073 (min 0, max 0.5) to 0.020 (min 0, max 0.5), p = 0.01, and at end to 0.016 (min 0, max 0.25), p = 0.007. CONCLUSIONS: The combination modality of once-daily long-acting insulin and pump for boluses is safe, feasible, and effective in preventing DKA among poorly controlled young people living with T1D, unable or un-willing to use advanced closed pumps.
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Background: Noonan syndrome (NS) is a genetic syndrome, characterized by various dysmorphic features, cardiac anomalies, short stature, and developmental delay. NS is a leading cause of cardiovascular anomalies. The syndrome results from dysregulation in the RAS-MAPK pathway and is related to the RASopathy family syndromes. Pathogenic variants in more than 20 related genes have been identified in association with NS, and several genotype-phenotype correlations were suggested. The specific severity of the same cardiovascular anomalies has not been described as linked to a specific causative gene. Methods: For this retrospective, single-center study, data retrieved from medical charts of a multidisciplinary NS clinic included genetic diagnosis, cardiac malformations, the need for intervention, demographics, and prenatal diagnosis. We analyzed molecular genetics and the severity of cardiac malformations. Results: The cohort comprised 74 children with NS. Consistent with previous studies, pathogenic variants in PTPN11 were the most common (62%). Cardiovascular anomalies presented in 57%; pulmonary stenosis (PS) was the most common (about 79% of anomalies). In children with pathogenic variants in PTPN11, PS tended to be more severe and required intervention in 53%, compared to 25% of children with PS and a variant in other genes. Conclusion: This first Israeli cohort of NS showed similar rates of cardiac malformations and genetic breakdown as previously published. Variants in PTPN11 were prone to a higher risk for severe PS that requires intervention. This finding may assist in genetic counseling and cardiac treatment decisions, and stresses the importance of genetic in addition to clinical diagnosis of NS.
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Children diagnosed with type 1 diabetes mellitus (T1DM) are at risk for neurocognitive sequelae, including impaired attention functioning. The specific nature of the cognitive deficit varies; current literature underscores early age of diabetes diagnosis and increased disease duration as primary risk factors for this neurocognitive decline. Forty-three children with T1DM were evaluated for Attention Deficit/Hyperactivity Disorder (ADHD) symptomatology using the MOXO continuous performance test (MOXO-CPT) performed during a routine outpatient evaluation. The study cohort demonstrated a significant decline in all four domains of attention functioning. The effect was most pronounced with early age at T1DM diagnosis, a longer disease duration and with poorer glycemic control (represented by higher HbA1c values). With increased disease duration (of 5 plus years), acute hyperglycemia was associated with inattention in the real-time setting. These findings highlight the need for routine screening of neurocognitive function in children with T1DM so that early intervention can be employed during this crucial period of cognitive development.
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NTHi was the predominant pathogen in ear cultures from severe acute otitis media (AOM) episodes in PCV-13 vaccinated children, more commonly in girls. NTHi-AOM episodes were associated with more myringotomies due to a higher treatment failure incidence. The low rate of ß-lactamase NTHi isolates in middle ear fluid cultures from PCV-13 vaccinated children presenting with AOM strengthens to still use amoxicillin as the first-line antibiotics.
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Infecciones por Haemophilus , Otitis Media , Infecciones Neumocócicas , Enfermedad Aguda , Antibacterianos/uso terapéutico , Niño , Femenino , Infecciones por Haemophilus/epidemiología , Infecciones por Haemophilus/prevención & control , Haemophilus influenzae , Humanos , Lactante , Otitis Media/epidemiología , Infecciones Neumocócicas/epidemiología , Infecciones Neumocócicas/prevención & control , Vacunas Neumococicas , Insuficiencia del Tratamiento , Vacunas ConjugadasRESUMEN
Congenital hypothyroidism (CH) due to dyshormonogenesis may occur due to mutations in any of the key genes involved in thyroid hormone biosynthesis (TG, TPO, DUOX2, DUOXA2, SLC5A5, IYD, SLC26A4 and SLC26A7). Mutations in the thyroglobulin gene (TG) are frequently associated with goiter, which may present fetally or neonatally, although a spectrum of phenotypes is reported. We present the case of a woman of Eritrean origin who presented in the third trimester of pregnancy in the early stages of labor. Ultrasound at presentation revealed a fetal neck swelling consistent with a goiter. Following delivery by Caesarian section with minimal respiratory support, the infant was found to be hypothyroid with undetectable serum levels of thyroglobulin. Sequencing of the TG revealed a homozygous donor splice site pathogenic variant (c.5686+1delG) not previously described in the literature. Levothyroxine treatment resulted in normal growth and psychomotor development. Goitrous CH with inappropriately low thyroglobulin has previously been reported in patients harbouring homozygous single nucleotide substitutions at the same TG donor splice site, which result in exon skipping and retention of malformed thyroglobulin by the endoplasmic reticulum. We conclude that the TG c.5686+1delG pathogenic variant is the likely basis for our patient's fetal goiter and CH, and that the clinical phenotype associated with TG c.5686+1delG is comparable to that seen with single nucleotide substitutions at the same site.
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Hipotiroidismo Congénito , Enfermedades Fetales , Bocio , Hipotiroidismo Congénito/genética , Eritrea , Femenino , Bocio/genética , Humanos , Mutación , Nucleótidos , Tiroglobulina/genéticaRESUMEN
During the coronavirus disease 2019 (COVID-19) pandemic, the increasing fear of leaving home and entering hospitals, together with guidelines to the public from Israel's Ministry of Health recommending the use of telemedicine rather than physical visits to the doctor, led to delayed diagnoses of non-COVID-19-related medical conditions. This research letter presents a cluster of severe medical conditions that were delayed in diagnosis due to postponed presentation to healthcare facilities during the COVID-19 pandemic. Ewing sarcoma, severe hemolytic anemia, endocarditis requiring surgery, and septic hip requiring surgery are some examples of cases we encountered with delayed diagnoses. This led to the appearance of a rather low burden of disease in the pediatric population during the pandemic, and pediatric hospitals and clinics experienced a very low volume of activity. Given the low burden of COVID-19 in children, and the well-defined separation between infected and non-infected areas within the hospitals, we should consider improving the guidelines and messages conveyed to the public regarding the importance of prompt medical assessment for other medical conditions, even during a pandemic, along with reassurance of the safety of entering medical facilities given the strict isolation procedures being observed. Conclusion: Medical associations should reconsider the messages being sent to the public during future outbreaks, and encourage medical assessment.
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We present a case of an otherwise healthy 3-year-old child who presented with limping, bone pain, fatigue, and agitation. Differential diagnosis included an infection of the bone, malignancy, an inflammatory bone disease, and metabolic bone disease. Magnetic resonance imaging of the lower limbs and the spine was consistent with scurvy, and the diagnosis was confirmed by very low levels of vitamin C. Further history taking revealed a diet based entirely on dairy pudding, with no fruits or vegetables, and being a "picky eater" was the sole reason. Intravenous treatment with vitamin C led to full recovery. Previous reports of scurvy were in patients with other medical conditions, such as malabsorption, or behavioral conditions as in autism. This case demonstrates that scurvy, an almost forgotten condition from past centuries, can occur in otherwise healthy children and should raise awareness regarding the importance of a balanced diet and proper nutritional history taking. Following growth charts as the only screening tool for balanced and inclusive nutrition may not be sufficient.