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Pediatric Reports

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https://www.readbyqxmd.com/read/29383223/a-boy-with-recurrent-swelling-of-the-jaw
#1
Lien Haverals, Marjolein Mattheij, Esther Hoppenreijs, Stefaan Bergé, Annemieke van der Weij
No abstract text is available yet for this article.
November 21, 2017: Pediatric Reports
https://www.readbyqxmd.com/read/29383222/zika-virus-infection-in-a-pediatric-patient-with-acute-gastrointestinal-involvement
#2
Svetoslav Slavov, Alessandra Matsuno, Aparecida Yamamoto, Katia Otaguiri, Maria Cervi, Dimas Covas, Simone Kashima
No abstract text is available yet for this article.
November 21, 2017: Pediatric Reports
https://www.readbyqxmd.com/read/29383221/zinc-supplementation-enhances-linear-growth-in-school-aged-children-a-randomized-controlled-trial
#3
Sanguansak Rerksuppaphol, Lakkana Rerksuppaphol
No abstract text is available yet for this article.
November 21, 2017: Pediatric Reports
https://www.readbyqxmd.com/read/29383220/pectus-updates-and-special-considerations-in-marfan-syndrome
#4
Stephanie Fraser, Anne Child, Ian Hunt
No abstract text is available yet for this article.
November 21, 2017: Pediatric Reports
https://www.readbyqxmd.com/read/29383219/initiation-of-complementary-feeding-and-associated-factors-among-children-of-age-6-23-months-in-sodo-town-southern-ethiopia-cross-sectional-study
#5
Tefera Chane, Shimelash Bitew, Tesfa Mekonnen, Wubalem Fekadu
No abstract text is available yet for this article.
November 21, 2017: Pediatric Reports
https://www.readbyqxmd.com/read/29285340/46-xy-ovotesticular-disorders-of-sex-development-a-therapeutic-challenge
#6
Maria-Grazia Scarpa, Massimo Di Grazia, Gianluca Tornese
No abstract text is available yet for this article.
November 21, 2017: Pediatric Reports
https://www.readbyqxmd.com/read/29285339/medium-chain-acyl-coa-dehydrogenase-deficiency-in-a-premature-infant
#7
Steven F Dobrowolski, Lina Ghaloul-Gonzalez, Jerry Vockley
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is identified by newborn screening (NBS). The natural history of MCADD includes metabolic decompensation with hypoglycemia, hyperammonemia, seizures, coma, and death. NBS enables expectant management thus severe symptoms are rare in managed patients. We report premature birth of an MCADD affected infant and resultant management challenges. Nutritional support advanced from parenteral nutrition at 24 hours to enteral feeds. A NBS sample was collected day 2, positive results for MCADD was reported day six, and diagnostic tests were performed day seven...
November 21, 2017: Pediatric Reports
https://www.readbyqxmd.com/read/29081936/the-role-of-interleukin-6-in-the-early-diagnosis-of-sepsis-in-premature-infants
#8
Mehrdad Mirzarahimi, Manouchehr Barak, Abdolkarim Eslami, Afsaneh Enteshari-Moghaddam
Septicemia is one of the major causes of mortality and morbidity in newborns. The aim of this study was to investigate the role of interleukin-6 (IL-6) in the early diagnosis of Sepsis in premature newborns. This cross-sectional study was conducted on preterm infants admitted to NICU of Hospital Buali in Ardabil city, Iran. C-reactive protein (CRP), IL-6 and complete blood count tests have been done in baseline, third and seventh day. Collected data analyzed by one-sample t-test, repeated measures and ANOVA in SPSS...
October 6, 2017: Pediatric Reports
https://www.readbyqxmd.com/read/29081935/clinical-heterogeneity-in-a-family-with-dkc1-mutation-dyskeratosis-congenita-and-hoyeraal-hreidarsson-syndrome-in-first-cousins
#9
Cristina Olivieri, Anna Mondino, Matteo Chinello, Alessandra Risso, Enrico Finale, Marina Lanciotti, Andrea Guala
Dyskeratosis congenita (DC) is an inherited bone marrow failure disorder characterized by mucocutaneous features (skin pigmentation, nail dystrophy and oral leukoplakia), pulmonary fibrosis, hematologic and solid malignancies. Its severe form, recognized as Hoyeraal-Hreidarsson syndrome (HHS), also includes cerebellar hypoplasia, microcephaly, developmental delay and prenatal growth retardation. In literature phenotypic variability among DC patients sharing the same mutation is wellknown. To our knowledge this report describes for the first time a family of DC patients, characterized by a member with features of classic DC and another one with some features of HHS, both with the same mutation in DKC1...
October 6, 2017: Pediatric Reports
https://www.readbyqxmd.com/read/29081934/congenital-vitiligo-a-case-observed-in-the-cohort-of-hiv-exposed-infants-in-bobo-dioulasso-burkina-faso
#10
Makoura Barro, Jean W Diallo, Ad Bafa Ibrahim Ouattara, Boubacar Nacro
Vitiligo is a dermatological disease; its exact prevalence is unknown among the paediatric population. We are reporting a case of vitiligo at birth for the first time in Burkina Faso, in the Teaching Hospital Souro Sanou of Bobo-Dioulasso, Paediatric Department. He is a male child, born from HIV-1 positive parents; we received him when he was 2 months to be followed in connection with the prevention of motherto-child transmission. He showed achromic lesions on the skin and on skin appendages at birth. In addition to congenital vitiligo we mentioned, several diagnostic hypotheses were discussed...
October 6, 2017: Pediatric Reports
https://www.readbyqxmd.com/read/29081933/cystic-intra-abdominal-masses-in-children
#11
Luisa Ferrero, Riccardo Guanà, Giulia Carbonaro, Maria Grazia Cortese, Luca Lonati, Elisabetta Teruzzi, Jurgen Schleef
Benign intra-abdominal cystic masses in infancy are fairly uncommon and their etiopathogenesis, histology and clinical presentation differ significantly. Our aim is to report our experience in their treatment in order to discuss the best diagnostic and treatment modality. The medical records of 5 children (2M, 3F) with cystic intraabdominal masses referred to our hospital between November 2012 and September 2016, were retrospectively reviewed. All patients underwent open surgery and subsequent histopathologic analysis...
October 6, 2017: Pediatric Reports
https://www.readbyqxmd.com/read/29081932/free-aspire-a-new-device-for-the-management-of-airways-clearance-in-patient-with-ineffective-cough
#12
Luca Bertelli, Giovanni Di Nardo, Salvatore Cazzato, Giampaolo Ricci, Andrea Pession
A 3-year-old girl with Spinal Muscular Atrophy type I presented with a right pneumonia. On physical examination pulmonary auscultation revealed an asymmetry of breath sounds between the 2 hemithoraces, owing to decreased breath sounds in the right hemithorax. Blood tests were normal. The initial working diagnosis was a suspected area of mucus accumulation. A treatment with Free Aspire was started. Within a few days, the girl was discharged with a normal physical examination and X-ray study result. Spinal Muscular Atrophy is a rare neuromuscular disorder characterized by loss of motor neurons and progressive muscle wasting...
October 6, 2017: Pediatric Reports
https://www.readbyqxmd.com/read/29081931/atypical-clinical-presentation-and-successful-treatment-with-oral-cholic-acid-of-a-child-with-defective-bile-acid-synthesis-due-to-a-novel-mutation-in-the-hsd3b7-gene
#13
Grazia Bossi, Giuseppe Giordano, Gaetana Anna Rispoli, Giuseppe Maggiore, Mauro Naturale, Daniela Marchetti, Maria Iascone
We report definitive diagnosis and effective treatment with oral cholic acid in one Italian male child affected by 3β-hydroxy-Δ(5)-C(27)-steroid dehydrogenase (3β-HSD) deficiency. He presented with failure to thrive, hepatomegaly and multiple cystic images in kidneys; no biochemical evidence of cholestasis. Large amounts of bile acid metabolites was detected in urine by fast atom bombardment ionization mass spectrometry (FAB-MS). HSDH3B7 gene analysis identified one mutation in intron 4, at nucleotide 432, G>A substitution that has never been reported before...
October 6, 2017: Pediatric Reports
https://www.readbyqxmd.com/read/28706621/pediatric-laparoscopy-and-adaptive-oxygenation-and-hemodynamic-changes
#14
Gloria Pelizzo, Veronica Carlini, Giulio Iacob, Noemi Pasqua, Giuseppe Maggio, Marco Brunero, Simonetta Mencherini, Annalisa De Silvestri, Valeria Calcaterra
Adaptive changes in oxygenation and hemodynamics are evaluated during pediatric laparoscopy. The children underwent laparoscopy (LAP Group, n=20) or open surgery (Open Group, n=10). Regional cerebral (rScO2) and peripheral oxygen saturation (SpO2), heart rate (HR), diastolic (DP) and systolic pressure (SP) were monitored at different intervals: basal (T0); anesthesia induction (T1); CO2PP insufflation (T2); surgery (T3); CO2PP cessation (T4); before extubation (T5). At T1, in both the LAP and Open groups significant changes in rScO2, DP and SP were recorded compared with T0; a decrease in SatO2 was also observed at T5...
June 26, 2017: Pediatric Reports
https://www.readbyqxmd.com/read/28706620/adams-oliver-syndrome-with-unusual-central-nervous-system-findings-and-an-extrahepatic-portosystemic-shunt
#15
Carlos Pérez-García, Yolanda Ruíz Martín, Alejandra Aguado Del Hoyo, Carlos Marín Rodríguez, Minia Campos Domínguez
We report a case of a premature neonate girl with scalp and skull defects and brachydactyly of the feet consistent with an Adams-Oliver syndrome (AOS). The patient had central nervous system abnormalities, such as periventricular calcifications, hypoplastic corpus callosum, and bilateral hemispheric corticosubcortical hemorrhagic lesions. A muscular ventricular septal defect and a portosystemic shunt were diagnosed. To our knowledge, this is the first report of congenital supratentorial grey-white matter junction lesions without dural sinus thrombosis in association with AOS...
June 26, 2017: Pediatric Reports
https://www.readbyqxmd.com/read/28706619/kawasaki-disease-presenting-with-bloody-diarrhea-and-acute-renal-failure-first-case
#16
Mary Jacqueline Saviour, Sam Hassan
Kawasaki disease (KD) is an acute febrile vasculitis of an unknown cause. It affects children <5 year of age, even if cases over 5 years old have been also reported. It is the commonest cause of acquired heart diseases in children which may lead to serious morbidity and mortality. The complications and mortality increase when the diagnosis is delayed. One of the main reasons leading to delayed diagnosis and consequent delayed treatment is the unusual presentation of KD. Its unusual manifestations have been increasingly reported to jeopardize the timely diagnosis and proper treatment...
June 26, 2017: Pediatric Reports
https://www.readbyqxmd.com/read/28706618/isolated-ileal-perforation-in-infancy-a-lethal-initial-presentation-of-hirschsprung-s-disease
#17
Fadi Iskandarani, Chawki Hammoud, Sarah Srour, Gloria Pelizzo, Ghassan Nakib, Valeria Calcaterra, Amir Khanafer
Arare case of ileal perforation, as a fatal initial presentation of total colonic aganglionosis (TCA) in infancy is reported. A 10-week-old boy, was brought to the emergency department with symptoms of complicated intestinal obstruction. He looked ill, was lethargic, markedly dehydrated and had a severely distended abdomen. An abdominal X-ray revealed multiple air fluid levels seen in a distended small intestine. During exploratory laparotomy the ileum was massively dilated with distal segment perforation. Ileal perforation repair was performed...
June 26, 2017: Pediatric Reports
https://www.readbyqxmd.com/read/28706617/rare-presentation-of-neurofibromatosis-and-turner-syndrome-in-a-pediatric-patient
#18
Natalie Gengel, Ian Marshall
Neurofibromatosis type 1 (NF1) is classically defined by the presence of multiple café-au-lait macules as one of the diagnostic criteria. Turner syndrome (TS) can also present with café-au-lait macules along with short stature. Our patient is the fifth reported with both NF1 and TS and the first who has been on growth hormone for short stature associated with TS.
June 26, 2017: Pediatric Reports
https://www.readbyqxmd.com/read/28435652/stroke-in-a-child-with-hemoglobin-sc-disease-a-case-report-describing-use-of-hydroxyurea-after-transfusion-therapy
#19
Diana Fridlyand, Caroline Wilder, E Leila Jerome Clay, Bruce Gilbert, Betty S Pace
Children with hemoglobin SC (HbSC) disease suffer a significant incidence of silent cerebral infarcts but stroke is rare. A 2-year-old African American boy with HbSC disease presented with focal neurologic deficits associated with magnetic resonance imaging evidence of cerebral infarction with vascular abnormalities. After the acute episode he was treated with monthly transfusions and subsequently transitioned to hydroxyurea therapy. The benefits of hydroxyurea as a fetal hemoglobin inducer in HbSC disease, to ameliorate clinical symptoms are supported by retrospective studies...
March 22, 2017: Pediatric Reports
https://www.readbyqxmd.com/read/28435651/a-pediatric-case-of-meckel-diverticulum-with-uncommon-presentation-showing-no-lower-gastrointestinal-bleeding
#20
Sanaz Mehrabani, Soheil Osia
Meckel's diverticulum (MD) is the most common congenital abnormality of the gastrointestinal tract. Painless intestinal hemorrhage is a frequently occurring complication that relates to MD in children. Bowel obstruction is a rare complication of MD in children. We report on the case of a four-year old male child who presented with abdominal pain and hematemesis. Finally, bowel obstruction due to MD was confirmed at surgery.
March 22, 2017: Pediatric Reports
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