Very Severe Spinal Muscular Atrophy (Type 0): A Report of Three Cases

ObjectiveWe describe three patients with very severe Spinal Muscular Atrophy (SMA) presented with reduced fetal movement in utero, profound hypotonia, severe weakness and respiratory insufficiency at birth. In all infants, electrodiagnostic studies were compatible with a neurogenic pattern. In genetic studies, all cases had homozygous deletions of exons 7 and 8 of Survival Motor Neuron (SMN) and exon 5 of Neuronal Apoptosis Inhibitory Protein (NAIP) gene. SMA should be considered in the differential diagnosis of reduced fetal movement and respiratory insufficiency at birth

Short-term load forecasting of microgrid via hybrid support vector regression and long short-term memory algorithms

© 2020 by the authors. Short-Term Load Forecasting (STLF) is the most appropriate type of forecasting for both electricity consumers and generators. In this paper, STLF in a Microgrid (MG) is performed via the hybrid applications of machine learning. The proposed model is a modified Support Vector Regression (SVR) and Long Short-Term Memory (LSTM) called SVR-LSTM. In order to forecast the load, the proposed method is applied to the data related to a rural MG in Africa. Factors influencing the MG load, such as various household types and commercial entities, are selected as input variables and load profiles as target variables. Identifying the behavioral patterns of input variables as well as modeling their behavior in short-term periods of time are the major capabilities of the hybrid SVR-LSTM model. To present the efficiency of the suggested method, the conventional SVR and LSTM models are also applied to the used data. The results of the load forecasts by each network are evaluated using various statistical performance metrics. The obtained results show that the SVR-LSTM model with the highest correlation coefficient, i.e., 0.9901, is able to provide better results than SVR and LSTM, which have the values of 0.9770 and 0.9809, respectively. Finally, the results are compared with the results of other studies in this field, which continued to emphasize the superiority of the SVR-LSTM model

Imunoproliferacijska bolest tankog crijeva manifestirana ascitesom i edemom

Immunoproliferative small intestinal disease (IPSID) is a rare disorder, which can progress to malignancy and invasion. Herein, a male patient is presented with hypoalbuminemic ascites and a history of chronic diarrhea five years before. Small intestinal biopsy and immunohistochemical study suggested the diagnosis of IPSID; the patient was then successfully treated with antibiotics. Considering the favorable therapeutic response of IPSID to antibiotics during primary stages, clinicians should be aware of its various presentations in order to initiate treatment at an early stage.Imunoproliferacijska bolest tankog crijeva je rijetka bolest koja može napredovati u malignu i invazivnu bolest. Prikazuje se slučaj bolesnika s hipoalbuminemičnim ascitesom i petogodišnjom anamnezom kroničnog proljeva. Biopsija tankog crijeva i imunohistokemijske pretrage upućivale su na dijagnozu imunoproliferacijske bolesti tankog crijeva, te je bolesnik uspješno liječen antibioticima. S obzirom na povoljan terapijski odgovor na antibiotike u ranim stadijima ove bolesti kliničari bi trebali poznavati njezine raznolike manifestacije kako bi pravodobno uveli primjerenu terapiju

Prevalence and risk factors of Hepatitis A in children in Tabriz, Iran

Introduction: Hepatitis A is the most common viral hepatitis during childhood especially in developing countries. It is, usually, self-limiting, but may be associated with severe complications in some patients particularly those with comorbidities. This study was aimed to determine the seroprevalence of hepatitis A in 2-16 years old children in Tabriz, Iran. Methods: The study was a cross-sectional survey on all children who were referred to the clinic of Tabriz children hospital. For every subject, demographic data, including age, sex, method of sewage and waste disposal/type of water supply, history of blood transfusion and parent’s addiction were recorded. Immunoglobulin G (IgG) antibodies against hepatitis A virus (anti-HAV) were measured in sera by enzyme-linked immunosorbent assay. The association between seropositivity and demographic characteristics was studied. Results: This cross-sectional study was performed on 252 children aged 2-16 years in Tabriz city during 2012. Totally, 32.9% of children were seropositive for IgG antibody (anti-HAV) There was a significant difference in the history of blood product transfusion between two groups (P = 0.001). A total of 3% of case-patients had poor type of water supply. The discrepancy between two groups was statistically significant (P = 0.040). There was no significant statistic correlation in seroprevalence of hepatitis A relative to parent’s addiction (P = 0.480), age (P = 0.650) and sex (P = 0.890). Conclusion: According to this study, hepatitis A is prevalent in the pediatric population, and it must be considered in the approach to all susceptible cases of acute hepatitis. Considering the difficulties for the control of environmental sources, we need to have a protocol for routine vaccination of children in our country

Topical tranexamic acid as a novel treatment for bleeding peptic ulcer: A randomised controlled trial

Background: Peptic ulcers are among the most common causes of upper gastrointestinal (GI) bleeding in children. The standard care for GI bleeding is endoscopy for diagnostic and therapeutic purposes. We aimed to assess the effect of topical tranexamic acid (TXA) via endoscopic procedures in children with GI bleeding caused by bleeding ulcers. Procedure: In this randomised controlled trial, 120 children were evaluated by diagnostic procedures for GI bleeding, of which 63 (30 girls, 33 boys) aged 1-month to 15 years were recruited. The patients were randomly divided into case and control groups. In the case group, TXA was administered directly under endoscopic therapy. In the control group, epinephrine (1/10,000) was submucosally injected to the four quadrants of ulcer margins as the routine endoscopic therapy. In both groups, the patients received supportive medical therapy with intravenous fluids and proton pump inhibitor drugs. Results: The mean ± standard deviation age of the children was 5 ± 2.03 years. Rebleeding occurred in 15 (11.4%) and 21 (9.8%) patients in the case and control groups, respectively (P = 0.50). The frequency of blood transfusion episodes (P = 0.06) and duration of hospital stay (P = 0.07) were not statistically different between the groups. Conclusion: Using topical TXA via endoscopic procedures may be effective in cases of GI bleedings caused by active bleeding ulcers. In order to establish this therapeutic effect, a large number of clinical studies are needed

Joubert syndrome presenting as unilateral dysplastic kidney, hypotonia, and respiratory problem

An 8-month-old girl with a history of asphyxia and respiratory distress immediately after birth was hospitalized at her fourth month of age with the diagnosis of kidney infection and it was revealed that she had a unilateral multicystic dysplastic kidney. In recent admission, she presented to emergency room with fever, hyperpnea, and apnea. In appearance, she was a hypotonic girl with broad forehead, hypertelorism, depressed nasal bridge and bitemporal regions, rapid vertical and horizontal nystagmus, and open mouth with salivation. In spite of normal physical growth, she had delayed developmental milestones. Blood gas O 2 saturation dropped after she received phenobarbital. Her urinary and blood tests were normal; however, her cranial magnetic resonance imaging (MRI) revealed vermis agenesis and molar tooth sign. These physical and para-clinical findings suggested Joubert syndrome

Growth indices in urinary tract infection children with or without vesicoureteral reflux

To determine the growth quality in children, less than 5 years of age, affected with urinary tract infection (UTI) and to compare the indices between patients with and without vesico-ureteral reflux (VUR) based on their reflux severity and/or laterality, we studied 106 children less than 5 years of age with UTI at Imam Reza Hospital of Kermanshah, Iran, and divided the study group into four subgroups based on their cystouretrography results as follows: Group 0: without reflux (as control group); Group 1: mild VUR; Group 2: moderate VUR; and Group 3: severe VUR. In all the subgroups, weight height index (WHI) was lower than 100% and was 96%, 93%, 95%, and 98%, respectively. We found no correlation between reflux severity and WHI in all the subgroups. In addition, the difference in the mean height standard deviation score (HSDS) (0.10, -0.12, -0.19, and -0.22, respectively) in the different subgroups was statistically insignificant. The mean WHI in the group with unilateral and bilateral reflux was 94.5% ± 8.9% and 95.0% ± 8.16%, respectively, while the mean HSDS was -0.16 ± 0.35 and -0.18 ± 0.38, respectively, and the difference was statistically insignificant in both the cases. We conclude that in children with UTI and normal glomerular filtration rate, the existence of reflux with all grades of severity and laterality exerts no impact on the growth index

Probiotics for the Treatment of Pediatric Helicobacter Pylori Infection: A Randomized Double Blind Clinical Trial

Objective: Helicobacter pylori is recognized as a major etiological factor in the pathogenesis of gastritis and peptic ulcer disease. H. Pylori eradication has a failure rate of more than 30% in pediatric patients, particularly because of poor compliance, antibiotic resistance and occurrence of side-effects. This study was aimed to determine whether adding the probiotics to a standard anti-H. Pylori regimen could minimize the gastrointestinal side-effect prevalence and improve the eradication rate. Methods: Double-blind randomized placebo controlled study conducted at Children’s Medical Center in Tehran, Iran. Sixty six H. Pylori positive children were treated with a triple drug treatment protocol (omeprazole+amoxycillin+furazolidon) and randomly allocated to receive either probiotic or placebo. All patients underwent esophagogastroduodendoscopy. H. Pylori infection was diagnosed by either rapid urease test (RUT) or histology. H. Pylori status was assessed after 4-8 weeks of the completion of treatment with stool H. Pylori antigen test. The side effects of the treatment were determined in each group. Findings:. Mean age of patients was 9.09 (range 3‐14) years, 44 (65.7%) patients were boys (sex ratio 2:1). All 66 patients completed the course of treatment and follow-up. The rate of H. Pylori eradication was significantly higher in probiotic group (P=0.04). In probiotic supplemented children there was a lower rate of nausea/vomiting (P=0.02) and diarrhea (P=0.039) during treatment. Conclusion: This study showed that probiotics have positive effect on the eradication of H. Pylori infection. Adjuvant therapy with probiotic is recommended in order to reduce the frequency of antibiotic induced sideeffects during treatment with antibiotics