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

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

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

Kidney imaging in management of delayed febrile urinary tract infection

We report a cross-sectional study performed to evaluate the imaging findings of 40 children, aged one month to five years (16.65 ± 14.97 months), who presented with protracted fever of more than 48 hours due to urinary tract infection (UTI). About 85% of the patients had positive Tc99-Dimercaptosuccinic acid (DMSA) scan and 58% had vesicoureteral reflux (VUR). Kidney sonography aided in the diagnosis and treatment in 10% of the patients. Age, sex, presence or laterality of VUR did not contribute to defective DMSA scan (pyelonephritis) (P > 0.05). Delayed diagnosis and treatment of febrile UTI is associated with a high incidence of positive findings of DMSA scan irrespective of age, sex or presence/absence of VUR. In mild VUR, the DMSA scan may be normal while in patients with moderate and severe VUR the DMSA scan is almost always abnormal. Thus, our study shows that a normal DMSA scan can help in ruling out moderate to severe forms of VUR and that cystography remains an excellent and standard tool for the diagnosis of VUR