216,153 results match your criteria syndrome children


SLC7A3: In Silico Prediction of a Potential New Cause of Childhood Epilepsy.

Neuropediatrics 2021 Dec 6. Epub 2021 Dec 6.

Department of Development and Regeneration, Section Pediatric Neurology, University Hospital KU Leuven, Leuven, Belgium.

We report an in-depth genetic analysis in an 11-year-old boy with drug-resistant, generalized seizures and developmental disability. Three distinct variants of unknown clinical significance (VUS) were detected by whole exome sequencing (WES) but not by initial genetic analyses (microarray and epilepsy gene panel). These variants involve the , and genes, which were subsequently evaluated by computational analyses using the InterVar tool and MutationTaster. Read More

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December 2021

Clinical correlations to distinguish severe from milder forms of obstructive sleep apnoea syndrome using overnight oximetry for prioritising adenotonsillectomy in a limited-resource setting.

Int J Pediatr Otorhinolaryngol 2021 Nov 30;152:110988. Epub 2021 Nov 30.

Division of Otorhinolaryngology-Head and Neck Surgery, University of Cape Town, Cape Town, South Africa; Red Cross War Memorial Children's Hospital, Cape Town, South Africa.

Background: In resource-poor settings with limited surgical services, it is essential to identify and prioritise children with severe and very severe obstructive sleep apnoea syndrome (OSAS) to expedite surgery. McGill's Oximetry Score (MOS) has been validated against polysomnography for OSAS and is affordable and easy to use.

Aims: The aim of this study was to assess the correlation of tonsillar size and clinical symptoms with MOS grade 3 or 4, to identify who requires overnight oximetry and who to prioritise for adenotonsillectomy. Read More

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November 2021

Biomarkers Associated with Mortality in Pediatric Patients with Cardiac Arrest and Acute Respiratory Distress Syndrome.

Resuscitation 2021 Dec 3. Epub 2021 Dec 3.

Division of Critical Care Medicine, Department of Anesthesiology & Critical Care Medicine, Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia Pennsylvania; Leonard Davis Institute, University of Pennsylvania, Philadelphia, PA.

Aim: of the Study: To identify plasma biomarkers associated with cardiac arrest in a cohort of children with acute respiratory distress syndrome (ARDS), and to assess the association of these biomarkers with mortality in children with cardiac arrest and ARDS (ARDS+CA).

Methods: This was a secondary analysis of a single-center prospective cohort study of children with ARDS from 2014-2019 with 17 biomarkers measured. Clinical characteristics and biomarkers were compared between subjects with ARDS+CA and ARDS with univariate analysis. Read More

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December 2021

Impact of SARS-CoV-2 Vaccination on Inflammatory Bowel Disease Activity and Development of Vaccine-Related Adverse Events: Results From PREVENT-COVID.

Inflamm Bowel Dis 2021 Dec 6. Epub 2021 Dec 6.

Division of Gastroenterology and Hepatology, Department of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.

Background: Severe acute respiratory syndrome coronavirus 2 vaccination is recommended for all individuals with inflammatory bowel disease (IBD), including those on immunosuppressive therapies; however, little is known about vaccine safety and efficacy in these patients or the impact of vaccination on IBD disease course.

Methods: We evaluated coronavirus disease 2019 (COVID-19) vaccine-related adverse events (AEs) and the effect of vaccination on IBD disease course among participants in the PREVENT-COVID (Partnership to Report Effectiveness of Vaccination in populations Excluded from iNitial Trials of COVID) study, a prospective, observational cohort study. Localized and systemic reactions were assessed via questionnaire. Read More

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December 2021

Risk factors of vesicoureteral reflux and urinary tract infections in children with imperforate anus: A population-based case-control study in Taiwan.

Medicine (Baltimore) 2021 Nov;100(44):e27499

Division of Pediatric Nephrology, Children's Hospital of China Medical University, Taichung, Taiwan.

Abstract: Imperforate anus (IA) is associated with several urological anomalies, including vesicoureteral reflux (VUR), a major contributor to high morbidity in patients with anorectal malformations. This retrospective study was performed to elucidate the risk factors of vesicoureteral reflux (VUR) and UTI in children with IA.We used the National Health Insurance Research Database (NHIRD) to estimate the frequency of congenital anomalies of the kidney and urinary tract (CAKUT) in children with IA. Read More

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November 2021

Why antibiotics should not be used to treat Shiga toxin-producing Escherichia coli infections.

Curr Opin Gastroenterol 2022 Jan;38(1):30-38

Alberta Children's Hospital Foundation Professor in Child Health and Wellness, Sections of Pediatric Emergency Medicine and Gastroenterology, Alberta Children's Hospital & Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Canada.

Purpose Of Review: There has been much debate about treating Shiga toxin-producing Escherichia coli (STEC) infections with antibiotics. No data convincingly demonstrate that antibiotics are better than no antibiotic treatment at all, and many studies suggest antibiotics increase the risk of developing the hemolytic uremic syndrome (HUS). This topic is timely, because emerging technology enables rapid identification of STEC-infected patients, and we anticipate questions about management will increase. Read More

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January 2022

Suppressed farnesoid X receptor by iron overload in mice and humans potentiates iron-induced hepatotoxicity.

Hepatology 2021 Dec 6. Epub 2021 Dec 6.

School of Pharmaceutical Science and Technology, Tianjin University, Tianjin, 300072, China.

Background And Aims: Iron overload is a frequent finding in the general population. As the major iron storage site, liver is subject to iron toxicity. Farnesoid X receptor (FXR) regulates bile acid metabolism and is implicated in various liver diseases. Read More

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December 2021

Prevalence of SARS-CoV-2 Positivity in Pediatric Surgical Patients Amid the First Wave of the COVID-19 Pandemic in New York City.

J Neurosurg Anesthesiol 2022 Jan;34(1):132-135

Departments of Anesthesiology.

Introduction: New York State implemented an 11-week elective surgery ban in response to the coronavirus disease-2019 (COVID-19) pandemic, during which pediatric patients from the 10 New York Presbyterian network hospitals requiring urgent or emergent surgical procedures were cared for at Morgan Stanley Children's Hospital (MSCH).

Materials And Methods: Data was abstracted from the electronic medical record of all patients aged 0 to 20 years who had surgery at MSCH from March 23, 2020 to June 7, 2020. Comparative analysis of demographic and clinical data elements between severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2)-positive and negative cohorts was conducted using the Fisher exact tests. Read More

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January 2022

Multisystem Inflammatory Syndrome in Children (MIS-C): Experiences With a New Disease Process.

J Neurosurg Anesthesiol 2022 Jan;34(1):127-131

Division of Pediatric Anesthesiology, Department of Anesthesiology, Columbia University, New York, NY.

On March 20, 2021, the Columbia University Department of Anesthesiology hosted the Papper virtual event dedicated to an academic discussion of various aspects of coronavirus disease-2019. Dr. Eva Cheung, a pediatric intensivist and pediatric cardiologist, spoke about the clinical challenges associated with tackling multisystem inflammatory syndrome in children, a novel clinical entity in pediatric patients related to coronavirus disease-2019, and the experience with confronting multisystem inflammatory syndrome in children in New York. Read More

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January 2022

Obstructive sleep apnea syndrome as a rare presentation in a young girl with a central nervous system tumor.

J Clin Sleep Med 2021 Dec 7. Epub 2021 Dec 7.

Department of Paediatric Respiratory and Sleep Medicine, Royal Hospital for Children and Young People, Edinburgh, UK.

Sleep-related breathing disorders (SRBDs) are a common problem in infancy and childhood. The most common type of SRBD in this age group is obstructive sleep apnea syndrome (OSAS), generally caused by factors affecting airway patency, such as tonsillar hypertrophy or obesity. However, in adults OSAS can also be caused by processes affecting the brainstem, such as central nervous system tumors. Read More

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December 2021

Sleep-disordered breathing in school-aged children with Prader-Willi Syndrome.

J Clin Sleep Med 2021 Dec 7. Epub 2021 Dec 7.

Melbourne Children's Sleep Centre, Monash Children's Hospital, Monash Health, Melbourne, Australia.

Study Objectives: Studies of sleep-disordered breathing (SDB) in children with Prader-Willi syndrome (PWS) have focused on early childhood and growth hormone (GH)-naïve children, but little is known about older children, including those on long term GH therapy. This study aimed to describe the nature and prevalence of SDB in school-aged children with PWS in the growth hormone era.

Methods: This retrospective single-center chart review included children aged 6-18 years with PWS who had overnight polysomnography not involving respiratory support over five years (2012-2017). Read More

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December 2021

How Common is Long COVID in Children and Adolescents?

Pediatr Infect Dis J 2021 Dec;40(12):e482-e487

Department of Paediatrics, The University of Melbourne, Parkville, VIC, Australia.

In children, the risk of coronavirus disease (COVID) being severe is low. However, the risk of persistent symptoms following infection with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is uncertain in this age group, and the features of "long COVID" are poorly characterized. We reviewed the 14 studies to date that have reported persistent symptoms following COVID in children and adolescents. Read More

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December 2021

SARS-CoV-2 infection in children with rheumatic disease: Experience of a tertiary referral center.

Arch Rheumatol 2021 Sep 9;36(3):381-388. Epub 2021 Feb 9.

Department of Child Health and Diseases, Pediatric Infectious Disease, Ümraniye Training and Research Hospital, Istanbul, Turkey.

Objectives: In this study, we present our clinical severe acute respiratory syndrome-coronavirus 2 (SARS-CoV-2) experience in patients with childhood rheumatic disease during novel coronavirus-2019 (COVID-19) pandemic.

Patients And Methods: A total of 87 patients (50 males, 37 females; median age: 12 years; range, 6.6 to 16 years) suspected of having COVID-19 at our pediatric rheumatology clinic between March 11th and October 15th 2020 were retrospectively analyzed. Read More

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September 2021

Early Identification of DMD in the Setting of West Syndrome.

Child Neurol Open 2021 Jan-Dec;8:2329048X211036546. Epub 2021 Sep 27.

Baylor College of Medicine, San Antonio, TX USA.

Duchene muscular dystrophy (DMD) is the most common muscular dystrophy in childhood, affecting ∼1:5000 male live births worldwide. DMD is a genetic disorder with X-linked recessive inheritance pattern characterized by a severe muscular phenotype with progressive muscle weakness and atrophy due to pathogenic variations within the DMD gene. Two cases are reported to date in the literature of individuals with a diagnosis of both DMD and West syndrome; neither of which had the degree of additional genetic abnormalities that our patient demonstrates. Read More

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September 2021

Agritourism and Kidding Season: A Large Outbreak of Human Shiga Toxin-Producing O157 (STEC O157) Infections Linked to a Goat Dairy Farm-Connecticut, 2016.

Front Vet Sci 2021 16;8:744055. Epub 2021 Nov 16.

Connecticut Department of Health, Hartford, CT, United States.

The objective of this study was to determine sources of Shiga toxin-producing O157 (STEC O157) infection among visitors to Farm X and develop public health recommendations. A case-control study was conducted. Case-patients were defined as the first ill child (aged <18 years) in the household with laboratory-confirmed STEC O157, or physician-diagnosed hemolytic uremic syndrome with laboratory confirmation by serology, who visited Farm X in the 10 days prior to illness. Read More

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November 2021

Designing Support Structures Post Sepsis in Children: Perspectives of the Queensland Paediatric Sepsis Program.

Front Pediatr 2021 18;9:759234. Epub 2021 Nov 18.

Queensland Paediatric Sepsis Program, Brisbane, QLD, Australia.

Paediatric post sepsis syndrome is poorly defined and causes physical, neurocognitive, psychosocial morbidity, and family dysfunction. Families of sepsis survivors report unmet needs during care. Worldwide, the provision of post sepsis care is in its infancy with limited evidence to design clinical support pathways. Read More

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November 2021

Comparison of Interleukin-6 Plasma Concentration in Multisystem Inflammatory Syndrome in Children Associated With SARS-CoV-2 and Pediatric Sepsis.

Front Pediatr 2021 15;9:756083. Epub 2021 Nov 15.

Unidad de Paciente Crítico Pediátrico, Hospital El Carmen de Maipú, Santiago, Chile.

Multisystem Inflammatory Syndrome in Children (MIS-C) associated with SARS-CoV-2 infection is thought to be driven by a post-viral dysregulated immune response, where interleukin 6 (IL-6) might have a central role. In this setting, IL-6 inhibitors are prescribed as immunomodulation in cases refractory to standard therapy. To compare plasma IL-6 concentration between critically ill children with MIS-C and sepsis. Read More

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November 2021

A New Case of Variant c.892C>T (p.Arg298Trp) in NACC1: A First Case Report From China.

Front Pediatr 2021 15;9:754261. Epub 2021 Nov 15.

Department of Pediatrics, Shanghai Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.

The nucleus accumbens associated 1 (NACC1) gene is a transcription factor member of the BTB/POZ family. A heterozygous c.892C>T (p. Read More

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November 2021

Prevalence of pulmonary hypertension among children with Down syndrome: A systematic review and meta-analysis.

World J Clin Pediatr 2021 Nov 9;10(6):177-191. Epub 2021 Nov 9.

Department of Pediatrics, Jawaharlal Nehru Medical College, Wardha 442004, Maharashtra, India.

Background: Pulmonary hypertension (PH) has serious short- and long-term consequences. PH is gaining increasing importance in high risk groups such as Down syndrome (DS) as it influences their overall survival and prognosis. Hence, there is a dire need to collate the prevalence rates of PH in order to undertake definitive measures for early diagnosis and management. Read More

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November 2021

Intermittent Frontal Rhythmic Discharges as an Electroencephalogram Biomarker of Acute SARS-CoV-2 Infection-Associated Encephalopathy in Children.

Cureus 2021 Oct 30;13(10):e19149. Epub 2021 Oct 30.

Neurology, Nemours Children's Health, Thomas Jefferson University, Wilmington, USA.

Data on neurological sequelae of COVID-19 infection in children are sparse. Neurotropic and neuroinvasive potentials of the SARS-CoV-2 virus are a matter of ongoing scientific debate and not yet well understood. Most of the reported symptoms are nonspecific including headache, encephalopathy, weakness, and as a part of multisystem inflammatory response syndrome. Read More

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October 2021

Coexistence of Relapsing Polychondritis and Sickle Cell Disease in a Child.

Case Rep Rheumatol 2021 24;2021:3600451. Epub 2021 Nov 24.

Rheumatology Unit, Department of Internal Medicine and Therapeutics, Korle-Bu Teaching Hospital, Accra, Ghana.

Relapsing polychondritis (RP) is a rare, severe connective tissue disease of unknown etiology affecting cartilaginous and proteoglycan-rich structures in an episodic and inflammatory manner. Approximately a third of RP cases occur in conjunction with another disease usually systemic autoimmune rheumatic disease, or myelodysplastic syndrome. Sickle cell disease (SCD) is a common inherited hematologic condition characterized by the inheritance of two abnormal hemoglobins, of which one is a hemoglobin S, presenting with severe acute and chronic complications from vaso-occlusive phenomena, which can be difficult to differentiate from RP. Read More

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November 2021

Beware of the ambiguous enemy of multisystem inflammatory syndrome in adult (MIS-A) following Covid-19 infection or vaccination.

Clin Case Rep 2021 Nov 26;9(11):e05138. Epub 2021 Nov 26.

Infectious Diseases Division Department of Internal Medicine Communicable Diseases Centre Hamad Medical Corporation Doha Qatar.

Multisystem Inflammatory Syndrome is a rare and novel clinical presentation described during the evolving COVID-19 pandemic. The condition is usually presenting as a sepsis-like syndrome leading to secondary multi-organ dysfunction post-COVID-19 infection. Although the syndrome has been mainly described in children, rare adults' form has been similarly described. Read More

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November 2021

COVID-19, Pre-Eclampsia, and Complement System.

Front Immunol 2021 17;12:775168. Epub 2021 Nov 17.

Department of Life Sciences, University of Trieste, Trieste, Italy.

COVID-19 is characterized by virus-induced injury leading to multi-organ failure, together with inflammatory reaction, endothelial cell (EC) injury, and prothrombotic coagulopathy with thrombotic events. Complement system (C) its cross-talk with the contact and coagulation systems contributes significantly to the severity and pathological consequences due to SARS-CoV-2 infection. These immunopathological mechanisms overlap in COVID-19 and pre-eclampsia (PE). Read More

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November 2021

Immune Dysregulation in Patients With Chromosome 18q Deletions-Searching for Putative Loci for Autoimmunity and Immunodeficiency.

Front Immunol 2021 17;12:742834. Epub 2021 Nov 17.

Department of Pediatrics, Oncology and Hematology, Medical University of Lodz, Lodz, Poland.

Introduction: Autoimmune disorders, IgA deficiency, and allergies seem to be common among individuals with 18q deletion syndrome [OMIM 601808]. We aimed to determine the prevalence, mechanism, and genetic background of autoimmunity, immune deficiency, and allergy in a cohort of patients with 18q deletions.

Material And Methods: Medical registries and social media were used to recruit the patients. Read More

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November 2021

IL-21 Rescues the Defect of IL-10-Producing Regulatory B Cells and Improves Allergic Asthma in DOCK8 Deficient Mice.

Front Immunol 2021 15;12:695596. Epub 2021 Nov 15.

Chongqing Key Laboratory of Child Infection and Immunity, Children's Hospital of Chongqing Medical University, Chongqing, China.

Mutations in human DOCK8 cause a combined immunodeficiency syndrome characterized by allergic diseases such as asthma and food allergy. However, the underlying mechanism is unclear. Regulatory B (Breg) cells that produce IL-10 exert potent immunosuppressive functions in patients with allergic and autoimmune disorders. Read More

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November 2021

Community-Acquired Respiratory Distress Syndrome Toxin: Unique Exotoxin for .

Front Microbiol 2021 19;12:766591. Epub 2021 Nov 19.

The Affiliated Nanhua Hospital, Department of Clinical Laboratory, Hengyang Medical School, University of South China, Hengyang, China.

infection often causes respiratory diseases in humans, particularly in children and adults with atypical pneumonia and community-acquired pneumonia (CAP), and is often exacerbated by co-infection with other lung diseases, such as asthma, bronchitis, and chronic obstructive pulmonary disorder. Community-acquired respiratory distress syndrome toxin (CARDS TX) is the only exotoxin produced by and has been extensively studied for its ADP-ribosyltransferase (ADPRT) activity and cellular vacuolization properties. Additionally, CARDS TX induces inflammatory responses, resulting in cell swelling, nuclear lysis, mucus proliferation, and cell vacuolization. Read More

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November 2021

The Retina in Patients With Triple A Syndrome: A Window Into Neurodegeneration?

Front Endocrinol (Lausanne) 2021 12;12:729056. Epub 2021 Nov 12.

Paediatric Endocrinology Unit - Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Brussels, Belgium.

Objective: Experimental evidence suggests that the clinical manifestations of Triple A syndrome result from oxidative stress. Several conditions caused by oxidative stress display retinal involvement. Our objective was to assess the retina and optic nerve involvement in children with Triple A syndrome. Read More

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November 2021

Focal Seizures and Posterior Reversible Encephalopathy Syndrome as Presenting Signs of IgA Vasculitis/Henoch-Schoenlein Purpura-An Educative Case and Systematic Review of the Literature.

Front Neurol 2021 15;12:759386. Epub 2021 Nov 15.

Department of Pediatric Pneumology, Allergology and Neonatology, Hannover Medical School, Hanover, Germany.

IgA vasculitis/Henoch-Schoenlein purpura (IgAV/HSP) is a systemic small vessel vasculitis of unknown pathogenesis predominantly affecting children. While skin, GI tract, joints, and kidneys are frequently affected and considered, central nervous system (CNS) involvement of this disease is underestimated. We provide a case report and systematically review the literature on IgAV, collecting data on the spectrum of neurological manifestations. Read More

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November 2021

Serum Neurofilament Light Chain Levels and Myelin Oligodendrocyte Glycoprotein Antibodies in Pediatric Acquired Demyelinating Syndromes.

Front Neurol 2021 11;12:754518. Epub 2021 Nov 11.

Department of Biomedical Sciences and Human Oncology, School of Medicine, University of Bari Aldo Moro, Bari, Italy.

The relationship between serum neurofilament light chain (sNfL) and myelin oligodendrocyte glycoprotein antibody (MOG-Ab) status has not been yet investigated in children with the acquired demyelinating syndrome (ADS). The sNfL levels and MOG-Abs were measured by ultrasensitive single-molecule array and cell-based assay in a cohort of 37 children with ADS and negativity for serum anti-aquaporin 4 (AQP4) antibodies. The sNfL levels were compared in MOG-Ab+/MOG-Ab- and in two subgroups MOG-Ab+ with/without encephalopathy. Read More

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November 2021

Altered Spontaneous Brain Activity Related to Neurologic and Sleep Dysfunction in Children With Obstructive Sleep Apnea Syndrome.

Front Neurosci 2021 15;15:595412. Epub 2021 Nov 15.

Department of Radiology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.

Childhood obstructive sleep apnea (OSA) is a common chronic sleep-related breathing disorder in children, which leads to growth retardation, neurocognitive impairments, and serious complications. Considering the previous studies about brain structural abnormalities in OSA, in the present study, we aimed to explore the altered spontaneous brain activity among OSA patients, using amplitude of low-frequency fluctuation (ALFF), fractional ALFF (fALFF), and regional homogeneity (ReHo) methods based on resting-state functional magnetic resonance imaging (MRI). Thirty-one untreated OSA children and 33 age-and gender-matched healthy children (HC) were included in this study. Read More

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November 2021