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Genomics 2021 Jun 8. Epub 2021 Jun 8.

Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran; MS Research Center, Neuroscience Institute, Tehran University of Medical Sciences, Tehran, Iran. Electronic address:

The prevalence of familial multiple sclerosis (FMS) is increasing worldwide which endorses the heritability of the disease. Given that many genome variations are ethnicity-specific and consanguineous marriage could affect genetic diseases, hereditary disease gene analysis among FMS patients from Iran, a country with high rates of parental consanguinity, could be highly effective in finding mutations underlying disease pathogenesis. To examine rare genetic mutations, we selected three Iranian FMS cases with ≥3 MS patients in more than one generation and performed whole exome sequencing. Read More

Pediatr Emerg Care 2021 Jun 7. Epub 2021 Jun 7.

From the Division of Pediatric Emergency, Ankara City Hospital Division of Pediatrics, Ankara City Hospital, University of Health Sciences Division of Pediatric Radiology, Ankara City Hospital Division of Pediatric Allergy and Immunology, Ankara City Hospital, University of Health Sciences, Ankara, Turkey.

Objectives: Acute bronchiolitis and community-acquired pneumonia are the most common acute lower respiratory infections (LRIs) leading to emergency admission and hospitalization in children. The aim of this study is to investigate clinical, laboratory, and radiology findings; diagnostic and therapeutic decisions; and the relationships between them in patients younger than 2 years of age, hospitalized for LRI.

Methods: Patients hospitalized for acute LRI (aged 28 days to 24 months) between November 1, 2017, and March 31, 2018, at a referral hospital were included. Read More

Medicine (Baltimore) 2021 Jun;100(22):e26233

Department of Neuropsychiatry.

Rationale: Coronavirus disease 2019 (COVID-19) is affecting mental health profoundly. Previous studies have reported pandemic-related anxiety. Anxiety disorder and autism spectrum disorder (ASD) are common comorbidities. Read More

J Trop Pediatr 2021 May;67(2)

Department of Paediatrics and Child Health, Muhimbili University of Health and Allied Sciences (MUHAS), Dar es Salaam, Tanzania.

Background: Diarrhoea remains among the highest causes of death in children under 5 years of age in developing countries. Before the introduction of rotavirus vaccine in Tanzania, rotavirus infection was the leading cause of severe diarrhoea in children below the age of 5 years but there is a paucity of studies reporting the severity of this infection after the introduction of rotavirus vaccine. This hospital-based study reports the proportion of children with rotavirus-associated diarrhoea in Dar es Salaam, its severity and associated factors. Read More

Exp Ther Med 2021 Jul 11;22(1):746. Epub 2021 May 11.

Department of Genetics, 'George Emil Palade' University of Medicine, Pharmacy, Sciences and Technology, 540142 Târgu Mureş, Romania.

Nephrogenic diabetes insipidus (NDI) is characterized by impaired urinary concentrating ability, despite normal or elevated plasma concentrations of the antidiuretic hormone, arginine vasopressin (AVP). NDI can be inherited or acquired. NDI can result from genetic abnormalities, such as mutations in the vasopressin V2 receptor () or the aquaporin-2 (AQP2) water channel, or acquired causes, such as chronic lithium therapy. Read More

Pediatrics 2021 Jun 21;147(6). Epub 2021 May 21.

Department of Expertise and Advocacy, Action Contre la Faim, Paris, France.

Background And Objectives: Use of mid-upper arm circumference (MUAC) as a single screening tool for severe acute malnutrition (SAM) assumes that children with a low weight-for-height score (WHZ) and normal MUAC have lower risks of morbidity and mortality. However, the pathophysiology and functional severity associated with different anthropometric phenotypes of SAM have never been well characterized. We compared clinical characteristics, biochemical features, and health and nutrition histories of nonedematous children with SAM who had (1) low WHZ only, (2) both low WHZ and low MUAC, or (3) low MUAC only. Read More

Pediatr Int 2021 May;63(5):604-606

Department of, Pediatrics, University of Tsukuba Hospital, Tsukuba, Japan.

JAMA Neurol 2021 May 17. Epub 2021 May 17.

Department of Pediatrics, The Ohio State University, Columbus.

Importance: This ongoing study assesses long-term safety and durability of response in infants with spinal muscular atrophy (SMA) type 1 after dosing with onasemnogene abeparvovec gene replacement therapy.

Objective: The primary objective of this ongoing study is to assess safety. The secondary objective is to determine whether developmental milestones achieved in the START phase 1 clinical trial were maintained and new milestones gained. Read More

Cureus 2021 Mar 31;13(3):e14222. Epub 2021 Mar 31.

Emergency Medicine, Thomas Jefferson University Hospital, Philadelphia, USA.

Introduction Fever is a common presenting symptom for children accounting for over 20% of visits to the emergency department (ED). The symptom of fever in children has been shown to create undue anxiety amongst caregivers. The purpose of this study was to evaluate caregivers' detection and management of pediatric fevers to identify potential knowledge gaps in our patient population. Read More

Acta Biomed 2021 04 30;92(S1):e2021081. Epub 2021 Apr 30.

king abdulaziz university hospital.

subcutaneous fat necrosis is a benign and often self-limiting inflammatory disorder experienced by newborns who were exposed to perinatal stress in the form of asphyxia, hypothermia, cord prolapse, and/or sepsis. lesions are usually benign and self-limiting, with complete resolution anticipated within a few weeks up to 6 months. they can be accompanied by multiple complications. Read More

Egypt Heart J 2021 May 3;73(1):43. Epub 2021 May 3.

Department of Cardiology, Advanced Cardiac Centre, Post Graduate Institute for Medical Education and Research (PGIMER) Chandigarh, Sector 12, Chandigarh, 160 012, India.

Background: Pulmonary artery thrombosis is rare in neonates and mimics as persistent pulmonary hypertension or congenital heart disease. Risk factors include septicemia, dehydration, polycythemia, maternal diabetes, asphyxia, and inherited thrombophilias. They present with cyanosis and respiratory distress. Read More

mSphere 2021 Apr 28;6(2). Epub 2021 Apr 28.

Infectious Diseases Division, icddr,b (International Centre for Diarrhoeal Disease Research, Bangladesh), Dhaka, Bangladesh

Cholera remains a major public health problem in resource-limited countries. Vaccination is an important strategy to prevent cholera, but currently available vaccines provide only 3 to 5 years of protection. Understanding immune responses to cholera antigens in naturally infected individuals may elucidate which of these are key to longer-term protection seen following infection. Read More

Endocrinol Diabetes Metab Case Rep 2021 Apr 1;2021. Epub 2021 Apr 1.

Department of Pediatrics, Keio University School of Medicine, shinjyuku, Tokyo, Japan.

Summary: We report a male infant with congenital nephrogenic diabetes insipidus (NDI) who presented with hypercalcemia and hyperphosphatemia since birth. Serum sodium started to increase at 39 days. Although there was no polyuria, urine osmolality was 71 mOsm/kg, when serum osmolality was 296 mOsm/kg with plasma arginine vasopressin 22. Read More

Pan Afr Med J 2021 26;38:86. Epub 2021 Jan 26.

Department of Pediatric Endocrinology, Faculty of Medicine, University of Khartoum, khartoum, Sudan.

Adipsia is a rare condition characterized by a lack of thirst due to a defect in specific osmoreceptors located in the hypothalamus. The disorder is characterized by failure to maintain the body's normal plasma osmolality (POSM), resulting in chronic or recurrent severe hypernatremia and dehydration. Adipsia is usually accompanied by central diabetes insipidus (DI). Read More

JAMA Netw Open 2021 Apr 1;4(4):e216433. Epub 2021 Apr 1.

Sections of Pediatric Emergency Medicine and Gastroenterology, Department of Pediatric Medicine, Alberta Children's Hospital, Alberta, Canada.

Importance: Despite guidelines endorsing oral rehydration therapy, intravenous fluids are commonly administered to children with acute gastroenteritis in high-income countries.

Objective: To identify factors associated with intravenous fluid administration and hospitalization in children with acute gastroenteritis.

Design, Setting, And Participants: This study is a planned secondary analysis of the Pediatric Emergency Research Canada (PERC) and Pediatric Emergency Care Applied Research Network (PECARN) probiotic trials. Read More

Front Pharmacol 2021 30;12:628722. Epub 2021 Mar 30.

Marsico Lung Institute and Cystic Fibrosis Research Center, School of Medicine, University of North Carolina, Chapel Hill, NC, United States.

In cystic fibrosis (CF), defective biogenesis and activity of the cystic fibrosis transmembrane conductance regulator (CFTR) leads to airway dehydration and impaired mucociliary clearance, resulting in chronic airway infection and inflammation. The most common CFTR mutation, F508del, results in a processing defect in which the protein is retained in the endoplasmic reticulum and does not reach the apical surface. CFTR corrector compounds address this processing defect to promote mutant CFTR transfer to the apical membrane. Read More

J Gen Virol 2021 Apr;102(4)

Department of Pediatrics, Sapporo Medical University School of Medicine, Sapporo, Hokkaido, Japan.

Group A rotaviruses (RVAs) infect a wide variety of mammalian and avian species. Animals act as a potential reservoir to RVA human infections by direct virion transmission or by contributing genes to reassortants. Here, we report the molecular characterization of a rare human RVA strain Ni17-46 with a genotype G15P[14], isolated in Japan in 2017 during rotavirus surveillance in a paediatric outpatient clinic. Read More

Drugs Context 2021 26;10. Epub 2021 Mar 26.

Department of Paediatrics, The Chinese University of Hong Kong, Shatin, Hong Kong.

Background: Viral gastroenteritis is the most common diarrhoeal disorder seen in general practice and emergency departments. This article aims to provide a narrative updated review on the evaluation and management of viral gastroenteritis in children.

Methods: A PubMed search was performed with Clinical Queries using the key term 'viral gastroenteritis'. Read More

Front Pediatr 2021 18;9:544192. Epub 2021 Mar 18.

Department of Mathematics, Physics and Computing, School of Sciences and Aerospace Studies, Moi University, Eldoret, Kenya.

The lactobacillus-rich microbiome forms a defense system against infections. Babies are born sterile and acquire their microbiome from exposure to the mothers' vaginal and rectal microbiota. Bacterial vaginosis (BV), which is characterized by a deficit of the Lactobacilli genera, may predispose women and their babies to an increased frequency of illness. Read More

Paediatr Int Child Health 2021 Apr 2:1-6. Epub 2021 Apr 2.

Discipline of Child Health, School of Medicine and Health Sciences, University of Papua New Guinea, Port Moresby.

The World Health Organization has a clinical and syndromic approach to the management of severe acute malnutrition which recognises that laboratory investigations are often not possible where children with severe malnutrition present. In low- and middle-income countries including Papua New Guinea, rates of death from severe malnutrition in many hospitals remain 10% or more. To evaluate the clinical predictors of death and the association between disturbances of electrolytes and haematological investigations in children with severe malnutrition and the risk of mortality. Read More

Horm Res Paediatr 2020 1;93(9-10):497-509. Epub 2021 Apr 1.

Division of Pediatric Endocrinology, Department of Pediatrics, School of Medicine, Marmara University, Istanbul, Turkey.

Background: Craniopharyngioma (CP), despite being a malformational tumor of low histological grade, causes considerable morbidity and mortality mostly due to hypothalamo-pituitary dysfunction that is created by tumor itself or its treatment.

Summary: Fluid-electrolyte disturbances which range from dehydration to fluid overload and from hypernatremia to hyponatremia are frequently encountered during the acute postoperative period and should be carefully managed to avoid permanent neurological sequelae. Hypopituitarism, increased cardiovascular risk, hypothalamic damage, hypothalamic obesity, visual and neurological deficits, and impaired bone health and cognitive function are the morbidities affecting the well-being of these patients in the long term. Read More

Sci Rep 2021 Mar 31;11(1):7251. Epub 2021 Mar 31.

Department of Pediatrics, Child Health Research Center, University of Virginia School of Medicine, Charlottesville, VA, USA.

The hormone renin plays a crucial role in the regulation of blood pressure and fluid-electrolyte homeostasis. Normally, renin is synthesized by juxtaglomerular (JG) cells, a specialized group of myoepithelial cells located near the entrance to the kidney glomeruli. In response to low blood pressure and/or a decrease in extracellular fluid volume (as it occurs during dehydration, hypotension, or septic shock) JG cells respond by releasing renin to the circulation to reestablish homeostasis. Read More

Cureus 2021 Feb 20;13(2):e13450. Epub 2021 Feb 20.

Family Medicine, Tower Health Medical Group, Reading, USA.

Ectodermal dysplasia (ED) is a rare heterogenous group of ectodermal disorder, which primarily affects skin, hair, nails, eccrine glands, and teeth. Hypohidrotic ED is characterized by hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital decrease in the number of teeth /anodontia - complete absence of teeth). Primary care physicians and dentists play a crucial role in the early diagnosis and subsequent follow ups. Read More

Front Immunol 2021 4;12:627944. Epub 2021 Mar 4.

Division of Internal Medicine, University of Zurich, Zurich, Switzerland.

Sickle cell disease (SCD) is an inherited hemolytic disorder, defined by a point mutation in the β-globin gene. Stress conditions such as infection, inflammation, dehydration, and hypoxia trigger erythrocyte sickling. Sickled red blood cells (RBCs) hemolyze more rapidly, show impaired deformability, and increased adhesive properties to the endothelium. Read More

BMJ Glob Health 2021 03;6(3)

Epidemiology and Demography, KEMRI-Wellcome Trust Research Programme Nairobi, Nairobi, Kenya.

We have worked to develop a Clinical Information Network (CIN) in Kenya as an early form of learning health systems (LHS) focused on paediatric and neonatal care that now spans 22 hospitals. CIN's aim was to examine important outcomes of hospitalisation at scale, identify and ultimately solve practical problems of service delivery, drive improvements in quality and test interventions. By including multiple routine settings in research, we aimed to promote generalisability of findings and demonstrate potential efficiencies derived from LHS. Read More

J Infect Public Health 2021 Apr 18;14(4):543-549. Epub 2021 Jan 18.

Paediatrics Department, King Saud University, Riyadh, Saudi Arabia.

Background: The COVID-19 global pandemic caused by severe acute respiratory syndrome coronavirus 2 infection, warranted attention for whether it has unique manifestations in children. Children tend to develop less severe disease with a small percentage present with clinical manifestations of paediatric multisystem inflammatory syndrome and have poor prognosis. We studied the characteristics of COVID-19 in children requiring hospitalisation in the Kingdom of Saudi Arabia and assessed the clinical presentation and the risk factors for mortality, morbidity, and paediatric intensive care (PICU) admission. Read More

Acad Emerg Med 2021 Mar 20. Epub 2021 Mar 20.

Department of Emergency Medicine, University of California, Davis, Sacramento, California, USA.

Background: Acute gastroenteritis (AGE) is a common pediatric diagnosis in emergency medicine, accounting for 1.7 million visits annually. Little is known about racial/ethnic differences in care in the setting of standardized care models. Read More

CJEM 2021 Mar 21. Epub 2021 Mar 21.

Program of Child Health Evaluative Sciences, The Hospital for Sick Children Peter Gilgan Centre for Research and Learning, Toronto, ON, Canada.

Background: While electrolyte maintenance solution is recommended and commonly used in pediatric gastroenteritis, it can be more costly and less palatable than preferred fluids such as apple juice.

Objective: To assess the incremental cost-effectiveness of apple juice/preferred fluids versus electrolyte maintenance solution in reducing treatment failures in children in an emergency department from societal and health care perspectives.

Methods: A probabilistic cost-effectiveness analysis was performed using clinical trial and chart data. Read More