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Pediatric Syndromes

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https://www.readbyqxmd.com/read/28731661/-melkersson-rosenthal-syndrome-report-of-two-pediatric-cases
#1
Lucas Bordino, Mariana L Juchli, Marcelo Fernández, María de Los Ángeles Fitz Maurice, Andrea Martins, Zaida E Ramírez, Roxana Spini
Melkersson Rosenthal syndrome is a very infrequent disease of unknown etiology, chronic and progressive course, with neurocutaneous disease that affects the orofacial innervation and mucocutaneous tissues with non-caseating granulomatous infiltration. Clinically, it is characterized by the diagnostic triad: recurrent edema of lips and/or face; recurrent and alternating acute peripheral facial paralysis and scrotal or geographic tongue. The condition generally presents as oligosymptomatic or monosymptomatic form...
August 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28730574/mechanical-ventilation-guided-by-electrical-impedance-tomography-in-pediatric-acute-respiratory-distress-syndrome
#2
Jeffrey Dmytrowich, Tanya Holt, Karen Schmid, Gregory Hansen
Mechanical ventilation strategies in pediatric acute respiratory distress syndrome (pARDS) continue to advance. Optimizing positive end expiratory pressure (PEEP) and ventilation to recruitable lung can be difficult to clinically achieve. This is in part, due to disease evolution, unpredictable changes in lung compliance, and the inability to assess regional tidal volumes in real time at the bedside. Here we report the utilization of thoracic electrical impedance tomography to guide daily PEEP settings and recruitment maneuvers in a child with pARDS...
July 20, 2017: Journal of Clinical Monitoring and Computing
https://www.readbyqxmd.com/read/28730261/post-medication-stevens-johnson-syndrome-in-a-girl-hospitalized-for-a-norovirus-and-rotavirus-infection
#3
Simona Dumitra, LuminiŢa Pilat, Alina Iftode, Ozana Nicoleta Bălan, Carmen Ramona StănculeŢ, Elena Claudia Covaci, Alexandru Fica Mircea Onel, Carmen Nicoleta Crişan
Stevens-Johnson syndrome (SJS) is a cutaneous mucosal disorder characterized by extended necrosis and detachment of the epidermis affecting <10% of the body surface, caused by drugs or infections. The authors report a case of a girl with Depakine resistant epilepsy, who develops a SJS in the third week of introducing lamotrigine. The girl also presents an acute diarrheal disease with double viral etiology - rotavirus and norovirus. The clinical image comprises polymorphic erythematous maculopapular exanthema with vesicular and bullous elements, with ulcerations and desquamations at the level of the eyelids, mouth, anogenital area and tegument denuding at the level of the abdomen and limbs...
2017: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/28730220/verner-morrison-syndrome-literature-review
#4
Oana Andreea Belei, Elena Rodica Heredea, Estera Boeriu, Tamara Marcela Marcovici, Simona Cerbu, Otilia Mărginean, Emil Radu Iacob, Daniela Iacob, Andrei Gheorghe Marius Motoc, Eugen Sorin Boia
Chronic diarrhea in infants is a common condition for addressability to pediatric gastroenterologists. The causes are multiple and the delay in reaching the final diagnosis can lead to complications in the general condition of the child. The purpose of this review is to present the bio-clinical and histogenetic particularities of a rare clinical entity, characterized by tumoral causes of chronic diarrhea. VIPomas are neuroendocrine tumors that autonomously secrete vasoactive intestinal peptide (VIP). Watery diarrhea, hypokalemia and achlorhydria (WDHA) syndrome caused by VIP-producing tumors only rarely occurs in adult patients with non-pancreatic disease...
2017: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/28730138/ileal-perforation-with-norovirus-gastroenteritis-in-a-3-month-old-infant
#5
Seol Woo Wi, Su Jin Lee, Eun Kyeong Kang, Sung Min Cho
Noroviruses have been recognized as the leading cause of epidemic and sporadic gastroenteritis since the advent of molecular diagnostic technique. They have been documented in 5-31% of pediatric patients hospitalized with gastroenteritis. Although norovirus gastroenteritis is typically mild and self-limited, it causes severe, but sometimes fatal, conditions in the vulnerable population such as immunocompromised patients, young children, and the elderly. Bowel perforation due to norovirus infection is rare. We report a case of small bowel perforation with norovirus gastroenteritis in the infant with Down syndrome during the hospitalization with pneumonia...
June 2017: Pediatric Gastroenterology, Hepatology & Nutrition
https://www.readbyqxmd.com/read/28729805/dental-treatment-considerations-for-a-pediatric-patient-with-incontinentia-pigmenti-bloch-sulzberger-syndrome
#6
Amy Yi-Ling Chen, Kevin Chen
Incontinentia pigmenti (IP) is a uncommon gene disorder, heritage with X-linked dominant mode. IP patients have a characteristic dentition varying from marked hypodontia to delayed eruption and conical crowns on both dentitions. A 5½-year-old girl, whose mother and younger sister were also diagnosed with IP, has the whirling-like pigmented skin lesion over her trunk and four extremities. Four primary teeth and multiple permanent tooth germs were found to be congenital missing. Dental considerations of further treatment were discussed with her parents including the preservation of primary molars, possible interim prosthesis in mixed or permanent dentition, full mouth rehabilitation with orthodontic and prosthodontic combined treatment, and implant therapy in adulthood...
April 2017: European Journal of Dentistry
https://www.readbyqxmd.com/read/28728766/assessment-of-safe-sleep-validation-of-the-parent-newborn-sleep-safety-survey
#7
Leanne Whiteside-Mansell, Rosemary Nabaweesi, Alison Rose Caballero, Samantha Hope Mullins, Beverly Kaye Miller, Mary Elizabeth Aitken
PURPOSE: Sudden Infant Death Syndrome (SIDS) and suffocation account for more than half of all Sudden Unexpected Infant Deaths (SUID). The American Academy of Pediatrics (AAP) recommendations describe the safest environments to protect infants. This study compared parent responses on the Newborn Sleep Safety Survey and observational assessments (N=72) of infant sleep environments in families thought to be at high-risk for non-compliance with AAP recommendations. DESIGN AND METHODS: A naturalistic study of participants enrolled in two home visitation support programs was used...
July 2017: Journal of Pediatric Nursing
https://www.readbyqxmd.com/read/28725977/the-effect-of-vitamin-d-and-calcium-supplementation-in-pediatric-steroid-sensitive-nephrotic-syndrome
#8
Sushmita Banerjee, Surupa Basu, Ananda Sen, Jayati Sengupta
BACKGROUND: Low serum levels of total 25-hydroxycholecalciferol (25(OH)D) occur in nephrotic syndrome (NS). We aimed to assess the effects of vitamin D3 and calcium supplementation on 25(OH)D levels, bone mineralization, and NS relapse rate in children with steroid-sensitive NS. METHODS: A randomized controlled trial (RCT) was performed in children with steroid-sensitive NS. The treatment group received vitamin D3 (60,000 IU orally, weekly for 4 weeks) and calcium supplements (500 to 1,000 mg/day for 3 months) after achieving NS remission...
July 19, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28724397/partial-uniparental-isodisomy-of-chromosome-16-unmasks-a-deleterious-biallelic-mutation-in-ift140-that-causes-mainzer-saldino-syndrome
#9
Benjamin M Helm, Jason R Willer, Azita Sadeghpour, Christelle Golzio, Eric Crouch, Samantha Schrier Vergano, Nicholas Katsanis, Erica E Davis
BACKGROUND: The ciliopathies represent an umbrella group of >50 clinical entities that share both clinical features and molecular etiology underscored by structural and functional defects of the primary cilium. Despite the advances in gene discovery, this group of entities continues to pose a diagnostic challenge, in part due to significant genetic and phenotypic heterogeneity and variability. We consulted a pediatric case from asymptomatic, non-consanguineous parents who presented as a suspected ciliopathy due to a constellation of retinal, renal, and skeletal findings...
July 19, 2017: Human Genomics
https://www.readbyqxmd.com/read/28724202/population-pharmacokinetics-of-lenalidomide-in-healthy-volunteers-and-patients-with-hematologic-malignancies
#10
Jamie N Connarn, Renfang Hwang, Yue Gao, Maria Palmisano, Nianhang Chen
A population pharmacokinetic (PopPK) model of lenalidomide was developed using data pooled from 13 clinical studies (dose range, 5-400 mg) in participants who were considered to have adequate capability for renal excretion of lenalidomide (creatinine clearance [CrCl] > 50 mL/min). The analysis population included 305 healthy volunteers and 83 patients with multiple myeloma or myelodysplastic syndromes. A 1-compartment model with linear absorption and elimination described well the observed data for both healthy volunteers and patients...
July 19, 2017: Clinical Pharmacology in Drug Development
https://www.readbyqxmd.com/read/28722703/deep-intronic-hotspot-variant-unraveling-rhabdoid-tumor-predisposition-syndrome-in-two-patients-with-atypical-teratoid-and-rhabdoid-tumor
#11
Arnault Tauziède-Espariat, Julien Masliah-Planchon, Laurence Brugières, Stéphanie Puget, Christelle Dufour, Pascale Schneider, Annie Laquerrière, Thierry Frebourg, Damien Bodet, Emmanuèle Lechapt-Zalcman, Gaëlle Pierron, Olivier Delattre, Pascale Varlet, Franck Bourdeaut
About one third of patients with rhabdoid tumors (RT) harbor a heterozygous germline variant in SMARCB1. Molecular diagnosis therefore keeps a crucial place in the diagnosis of RT, and genetic counseling should be systematically recommended. However, immunohistochemistry has progressively replaced molecular tools to assess the status of SMARCB1 in tumors; the necessity of analyzing SMARCB1 status in the tumor may thus be less considered by neuropathologists and pediatric neuro-oncologists. In the present manuscript as aforementioned, we report on two patients with bifocal RT in the first month of life and in whom no germline variant was initially found in the SMARCB1 coding sequence...
July 19, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28722481/clinical-management-of-pediatric-acute-onset-neuropsychiatric-syndrome-part-i-psychiatric-and-behavioral-interventions
#12
Margo Thienemann, Tanya Murphy, James Leckman, Richard Shaw, Kyle Williams, Cynthia Kapphahn, Jennifer Frankovich, Daniel Geller, Gail Bernstein, Kiki Chang, Josephine Elia, Susan Swedo
OBJECTIVE: This article outlines the consensus guidelines for symptomatic treatment for children with Pediatric Acute-Onset Neuropsychiatric Syndrome (PANS) and Pediatric Autoimmune Neuropsychiatric Syndrome Associated with Streptococcal Infection (PANDAS). METHODS: Extant literature on behavioral, psychotherapeutic, and psychopharmacologic treatments for PANS and PANDAS was reviewed. Members of the PANS Research Consortium pooled their clinical experiences to find agreement on treatment of PANS and PANDAS symptoms...
July 19, 2017: Journal of Child and Adolescent Psychopharmacology
https://www.readbyqxmd.com/read/28722464/overview-of-treatment-of-pediatric-acute-onset-neuropsychiatric-syndrome
#13
Susan E Swedo, Jennifer Frankovich, Tanya K Murphy
No abstract text is available yet for this article.
July 19, 2017: Journal of Child and Adolescent Psychopharmacology
https://www.readbyqxmd.com/read/28721467/a-review-of-the-safety-efficacy-and-mechanisms-of-delivery-of-nasal-oxytocin-in-children-therapeutic-potential-for-autism-and-prader-willi-syndrome-and-recommendations-for-future-research
#14
Marilena M DeMayo, Yun Ju C Song, Ian B Hickie, Adam J Guastella
In this article, we conduct a comprehensive review of existing evidence for the safety and therapeutic potential of intranasal oxytocin in pediatric populations. Unique considerations for dosing and delivery of oxytocin to the nasal passageway in pediatric populations and methods to promote adherence are reviewed. Intranasal oxytocin has been administered to 261 children in three open-label studies and eight randomized controlled trials. To date, the only published results in pediatric populations have focused on autism spectrum disorder (ASD) and Prader-Willi syndrome (PWS)...
July 18, 2017: Paediatric Drugs
https://www.readbyqxmd.com/read/28719916/pediatric-short-bowel-syndrome-predicting-four-year-outcome-after-massive-neonatal-resection
#15
Teresa Capriati, Daniela Giorgio, Fabio Fusaro, Manila Candusso, Paolo Schingo, Tamara Caldaro, Francesca Laureti, Domenica Elia, Antonella Diamanti
No abstract text is available yet for this article.
July 18, 2017: European Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28719546/fracture-table-application-for-pediatric-femur-fractures-incidence-and-risk-factors-associated-with-adverse-outcomes
#16
Brian A Kelly, Manahil Naqvi, Emily S Rademacher, Patricia E Miller, Daniel J Hedequist, Michael P Glotzbecker, Travis H Matheney, Benjamin J Shore
BACKGROUND: Flexible elastic nails, submuscular plating, and rigid locked intramedullary nails are common methods of fixation for pediatric femur fractures (PFF) in which the fracture table is used to aid reduction. Little is known about complications associated with fracture table application in PFF. The purpose of this study was to determine the incidence and risk factors associated with adverse outcomes related to fracture table application for the treatment of PFF. METHODS: A retrospective chart review of all children (younger than 18 y) treated for a femur fracture with the use of the fracture table between 2004 and 2015 at a single tertiary pediatric hospital was performed...
July 17, 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28717937/clinical-presentation-and-outcomes-of-childhood-onset-membranous-lupus-nephritis
#17
Maria Pereira, Eyal Muscal, Karen Eldin, M John Hicks, Anna Carmela P Sagcal-Gironella, Marietta DeGuzman, Scott E Wenderfer
BACKGROUND: Best practices for managing childhood-onset membranous lupus nephritis (MLN) are not yet established. Most studies involve primarily or exclusively adult cohorts or pediatric cohorts with combinations of pure or mixed membranous and proliferative nephritis. METHODS: We performed a single-center cohort study of consecutively diagnosed children with pure MLN from 1990 and 2016. Patients received care in Houston, Texas, one of the most diverse metropolitan areas in North America...
July 17, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28717779/impact-of-middle-east-respiratory-syndrome-outbreak-on-the-use-of-emergency-medical-resources-in-febrile-patients
#18
Hyunho Jeong, Sikyoung Jeong, Juseok Oh, Seon Hee Woo, Byung Hak So, Jeong Hee Wee, Ji Hoon Kim, Ji Yong Im, Seung Pill Choi, Kyoungnam Park, Byul Nim Hee Cho, Sungyoup Hong
OBJECTIVE: Outbreaks of transmissible respiratory infection are suspected to have significant effects on the health of pediatric and geriatric patients. The objective was to assess the impact of the Middle East respiratory syndrome (MERS) outbreak on the use of emergency resources. METHODS: An ecologic analysis of emergency department (ED) records between September and December 2015, was performed. Data was obtained from the National Emergency Department Information System database for Korea...
June 2017: Clinical and Experimental Emergency Medicine
https://www.readbyqxmd.com/read/28716515/calming-the-storm-dysautonomia-for-the-pediatrician
#19
Justin M Burton, Olga M Morozova
Dysautonomia is a potentially life-threatening syndrome seen in many different types of brain injuries. It involves paroxysmal sympathetic hyperactivity and typically includes a constellation of symptoms, including: tachycardia, tachypnea, hyperthermia, hypertension, diaphoresis, hypertonia, and/or decerebrate or decorticate posturing. It is a clinical diagnosis of exclusion. A multimodal treatment approach is necessary including environmental modifications along with pharmacotherapy. Early management can help prevent comorbidities including secondary brain injury while also improving patient outcomes...
July 14, 2017: Current Problems in Pediatric and Adolescent Health Care
https://www.readbyqxmd.com/read/28716513/update-in-the-treatment-of-chronic-pain-within-pediatric-patients
#20
Jeffrey Rabin, Mackenzie Brown, Sean Alexander
Pediatric chronic pain is a challenging entity to evaluate and treat as it encompasses a wide variety of presentations often with overlapping psychosocial implications. Chronic pain may have significant effects upon a child's involvement in academic, athletic, and social participation. If unrecognized, it may have deleterious effects upon family interactions and stability. The treatment of pediatric chronic pain is focused on not only providing analgesia, but also on assisting the child and family with reintegrating into a more functional lifestyle...
July 14, 2017: Current Problems in Pediatric and Adolescent Health Care
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