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Pediatric Syndromes

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https://www.readbyqxmd.com/read/28643816/-budd-chiari-syndrome-and-ulcerative-colitis-in-an-adolescent
#1
Federico Marchetti, Martina Mainetti, Michela Giovannini, Cristina Morelli
In patients with inflammatory bowel disease (IBD) there is an increased incidence of thromboembolic events. We report a case of a female, age 14, with a 6 months history of diarrhea with occasional presence of red blood and with a very distended abdomen with evident ascites. The diagnosis was Budd-Chiari syndrome (BCS) in ulcerative colitis (UC). Therapy with subcutaneous low molecular weight heparin, methylprednisolone, mesalazine was started. Clinical and radiological features quickly improved. No thrombophilia abnormality nor other risk factor for thrombosis were detected...
May 2017: Recenti Progressi in Medicina
https://www.readbyqxmd.com/read/28643070/laparoscopic-revision-of-billroth-ii-with-braun-anastomosis-into-roux-en-y-anatomy-in-a-patient-with-intestinal-malrotation
#2
Fabio Garofalo, Omar Abouzahr, Henri Atlas, Ronald Denis, Pierre Garneau, Hai Huynh, Radu Pescarus
INTRODUCTION: Various reconstructions of the gastro-intestinal tract have been described in the past after distal gastrectomy. Among these, a Billroth II (BII) anastomosis can be performed with the addition of the Omega entero-enterostomy that may theoretically reduce the alkaline reflux. Given the significant complications associated with this procedure such as biliary reflux, marginal ulceration, and afferent loop syndrome, a revision into a Roux-en-Y anatomy is generally recommended...
June 22, 2017: Surgical Endoscopy
https://www.readbyqxmd.com/read/28641574/intermittent-low-platelet-counts-hampering-diagnosis-of-x-linked-thrombocytopenia-in-children-report-of-two-unrelated-cases-and-a-novel-mutation-in-the-gene-coding-for-the-wiskott-aldrich-syndrome-protein
#3
Samuel Souza Medina, Lúcia Helena Siqueira, Marina Pereira Colella, Gabriela Goes Yamaguti-Hayakawa, Bruno Kosa Lino Duarte, Maria Marluce Dos Santos Vilela, Margareth Castro Ozelo
BACKGROUND: Thrombocytopenia can occur in different circumstances during childhood and although immune thrombocytopenia is its most frequent cause, it is important to consider other conditions, especially when there is a persistent or recurrent low platelet count. We report two cases of intermittent thrombocytopenia, previously misdiagnosed as immune thrombocytopenia. CASES PRESENTATION: Both cases described were boys who presented with an intermittent pattern of thrombocytopenia, with a persistently low mean platelet volume...
June 22, 2017: BMC Pediatrics
https://www.readbyqxmd.com/read/28639958/pediatric-jellyfish-envenomation-in-the-mediterranean-sea
#4
Miguel Glatstein, Dikla Adir, Bella Galil, Dennis Scolnik, Ayelet Rimon, Dikla Pivko-Levy, Christopher Hoyte
BACKGROUND: Several species of jellyfish native to the western Indian Ocean have entered the Mediterranean Sea through the Suez Canal. Since the late 1980s, each summer Rhopilema nomadica forms swarms as long as 100 km in the southeastern Levant and since the millennium aggregations of additional nonnative jellyfish have been sighted. The aim of this study was to evaluate children seen in the emergency department after jellyfish envenomations and to establish patterns of toxicity associated with this organism...
June 20, 2017: European Journal of Emergency Medicine: Official Journal of the European Society for Emergency Medicine
https://www.readbyqxmd.com/read/28639081/clinical-impact-of-non-congenital-zika-virus-infection-in-infants-and-children
#5
REVIEW
Stefan H F Hagmann
PURPOSE OF REVIEW: While the Zika virus (ZIKV) has been noted for its distinct neurotropism and identified as a significant cause for a congenital infection syndrome, there has been increased recognition of the importance to better understand the clinical impact of non-congenital ZIKV infection in infants and children. This article reviews reports of perinatal and breast milk transmission of ZIKV and summarizes current clinical outcome data of pediatric non-congenital ZIKV infection. RECENT FINDINGS: Perinatal transmission and presence of infective ZIKV particles in breast milk have been reported...
June 21, 2017: Current Infectious Disease Reports
https://www.readbyqxmd.com/read/28634021/mycoplasma-pneumoniae-and-health-outcomes-in-children-with-asthma
#6
Pamela R Wood, Jordan C Kampschmidt, Peter H Dube, Marianna P Cagle, Paola Chaparro, Norma S Ketchum, Thirumalai R Kannan, Harjinder Singh, Jay I Peters, Joel B Baseman, Edward G Brooks
BACKGROUND: Acute infections with Mycoplasma pneumoniae (Mp) have been associated with worsening asthma in children. Mp can be present in the respiratory tract for extended periods; it is unknown whether the long-term persistence of Mp in the respiratory tract affects long-term asthma control. OBJECTIVE: To determine the effect of Mp on asthma control. METHODS: We enrolled 31 pediatric subjects 3 to 10 years of age with persistent asthma who completed up to 8 visits over a 24-month period...
June 17, 2017: Annals of Allergy, Asthma & Immunology
https://www.readbyqxmd.com/read/28632503/the-catastrophic-antiphospholipid-syndrome-in-children
#7
Ellen J L Go, Kathleen M O'Neil
PURPOSE OF REVIEW: To review the difficult syndrome of catastrophic antiphospholipid syndrome, emphasizing new developments in the diagnosis, pathogenesis and treatment. RECENT FINDINGS: Few recent publications directly address pediatric catastrophic antiphospholipid syndrome (CAPS). Most articles are case reports or are data from adult and pediatric registries. The major factors contributing to most pediatric catastrophic antiphospholipid syndrome include infection and the presence of antiphospholipid antibodies, but complement activation also is important in creating diffuse thrombosis in the microcirculation...
June 16, 2017: Current Opinion in Rheumatology
https://www.readbyqxmd.com/read/28631894/serpini1-pathogenic-variants-an-emerging-cause-of-childhood-onset-progressive-myoclonic-epilepsy
#8
Emmanuelle Ranza, Stephanie Garcia-Tarodo, Konstantinos Varvagiannis, Michel Guipponi, Johannes A Lobrinus, Armand Bottani, Ilse Kern, Mary Kurian, Marie-Pascale Pittet, Stylianos E Antonarakis, Joel Fluss, Christian M Korff
Progressive myoclonic epilepsies are rare neurodegenerative diseases with a wide spectrum of clinical presentations and genetic heterogeneity that render their diagnosis perplexing. Discovering new imputable genes has been an ongoing process in recent years. We present two pediatric cases of progressive myoclonic epilepsy with SERPINI1 pathogenic variants that lead to a severe presentation; we highlight the importance of including this gene, previously known as causing an adult-onset dementia-epilepsy syndrome, in the genetic work-up of childhood-onset progressive myoclonic epilepsies...
June 20, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28629849/analysis-of-archived-newborn-dried-blood-spots-dbs-identifies-congenital-cytomegalovirus-as-a-major-cause-of-unexplained-pediatric-sensorineural-hearing-loss
#9
Lucy Meyer, Bazak Sharon, Tina C Huang, Abby C Meyer, Kristin E Gravel, Lisa A Schimmenti, Elizabeth C Swanson, Hannah E Herd, Nelmary Hernandez-Alvarado, Kirsten R Coverstone, Mark McCann, Mark R Schleiss
PURPOSE: Congenital cytomegalovirus (cCMV) infection is the most common non-genetic cause of sensorineural hearing loss (SNHL). However, accurate diagnosis of cCMV as the etiology of SNHL is problematic beyond the neonatal period. This study therefore examined whether cCMV infection could be identified retrospectively in children presenting with unexplained SNHL to a multidisciplinary diagnostic outpatient otolaryngology clinic at an academic medical center in Minnesota. METHODS: Over a 4-year period, 57 patients with an age range of 3months to 10years with unexplained SNHL were recruited to participate in this study...
June 7, 2017: American Journal of Otolaryngology
https://www.readbyqxmd.com/read/28629660/characterization-and-risk-factors-for-aortic-dilatation-in-pediatric-patients-with-bicuspid-aortic-valve
#10
Anna Sabaté-Rotés, Laura Sabidó Sanchez, Ferran Gran Ipiña, Dimpna Albert Brotons, Raúl F Abella, Ferran Rosés Noguer
INTRODUCTION AND OBJECTIVES: Dilatation of the ascending aorta associated with bicuspid aortic valve is a major cause of morbidity and mortality in adults. The main objective was to recognize the aortic involvement in children, its characteristics and risk factors. METHODS: Aortic measures of all pediatric patients with bicuspid aortic valve followed in a tertiary pediatric hospital between 1997 and 2015 were retrospectively taken. Patients with syndromes associated with aortic dilatation were excluded (n=17)...
June 16, 2017: Medicina Clínica
https://www.readbyqxmd.com/read/28625693/long-term-functional-outcomes-after-replacement-of-the-esophagus-in-pediatric-patients-a-systematic-literature-review
#11
REVIEW
Stefano Garritano, Tomoyuki Irino, Chiara Maria Scandavini, Andrianos Tsekrekos, Lars Lundell, Ioannis Rouvelas
BACKGROUND: The indications of esophageal replacement (ER) in pediatric patients include long gap esophageal atresia (LGEA), intractable post-corrosive esophageal strictures (PCES), and some rare esophageal diseases. Various conduits and procedures are currently used worldwide with a lack of consensus regarding the ideal substitute to replace the esophagus replacement. The short-term outcomes of these advanced procedures are well known; there are few data available describing long-term functional outcomes of these patients with long life expectancy...
June 8, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28623545/analysis-of-genotypes-and-phenotypes-in-chinese-children-with-tuberous-sclerosis-complex
#12
Dayong Bai, Junyang Zhao, Li Li, Jun Gao, Xu Wang
Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome with serious clinical presentations, an autosomal dominant genetic disorder involving multiple organs and systems. We retrospectively investigated the clinical manifestations and genotypes of 20 Chinese children with TSC to enable informed diagnostic and surveillance recommendations in China. A retrospective analysis of clinical manifestations in 20 children (7.00±5.30 years old) with TSC was conducted. A genetic testing of the genes TSC1 and TSC2 was performed in 14 children...
June 14, 2017: Science China. Life Sciences
https://www.readbyqxmd.com/read/28622279/hydrogen-sulphide-in-exhaled-gases-from-ventilated-septic-neonates-and-children-a-preliminary-report
#13
Natalie Bee, Ruth White, Andy J Petros
OBJECTIVES: There is increasing interest in hydrogen sulphide as a marker of pathologic conditions or predictors of outcome. We speculate that as hydrogen sulphide is a diffusible molecule, if there is an increase in plasma hydrogen sulphide in sepsis, it may accumulate in the alveolar space and be detected in exhaled gas. "We wished to determine whether we could detect hydrogen sulphide in exhaled gases of ventilated children and neonates and if the levels changed in sepsis." DESIGN: Prospective, observational study...
June 15, 2017: Pediatric Critical Care Medicine
https://www.readbyqxmd.com/read/28622223/managing-safely-the-complexity-in-critical-care-are-protocols-for-artificial-ventilation-in-pediatric-acute-respiratory-distress-syndrome-beneficial-in-searching-for-reliable-biomarkers
#14
https://www.readbyqxmd.com/read/28621800/a-consensus-review-on-malignancy-associated-hemophagocytic-lymphohistiocytosis-in-adults
#15
REVIEW
Naval Daver, Kenneth McClain, Carl E Allen, Sameer A Parikh, Zaher Otrock, Cristhiam Rojas-Hernandez, Boris Blechacz, Sa Wang, Milen Minkov, Michael B Jordan, Paul La Rosée, Hagop M Kantarjian
Hemophagocytic lymphohistiocytosis (HLH) is a syndrome of severe immune activation and dysregulation resulting in extreme and often life-threatening inflammation. HLH has been well recognized in pediatric populations, and most current diagnostic and therapeutic guidelines are based on pediatric HLH. Recently there has been recognition of HLH in adults, especially secondary to immune deregulation by an underlying rheumatologic, infectious, or malignant condition. This review is focused on malignancy-associated HLH (M-HLH), in which possible mechanisms of pathogenesis include severe inflammation, persistent antigen stimulation by the tumor cells, and loss of immune homeostasis because of chemotherapy, hematopoietic stem cell transplantation, or infection...
June 16, 2017: Cancer
https://www.readbyqxmd.com/read/28621297/endoscopic-ultrasound-with-or-without-fine-needle-aspiration-has-a-meaningful-impact-on-clinical-care-in-the-pediatric-population
#16
Amit Raina, Maire A Conrad, Benjamin Sahn, Alireza Sedarat, Gregory G Ginsberg, Nuzhat A Ahmad, Vinay Chandrasekhara, Petar Mamula, Michael L Kochman
BACKGROUND AND OBJECTIVES: The safety and utility of endoscopic ultrasound (EUS) for the evaluation and management of gastrointestinal (GI) tract disorders among adults has been established. The literature on safety and efficacy in a pediatric referral population (under 21 years of age) is limited. We hypothesized that EUS is safe and useful in the pediatric population. We reviewed the pediatric EUS experience at a single tertiary-care system. We describe the indications, findings, safety, technical success rate, and impact on clinical outcomes...
May 2017: Endoscopic Ultrasound
https://www.readbyqxmd.com/read/28620564/moyamoya-syndrome-in-a-child-with-neurofibromatosis-type-1-magnetic-resonance-imaging-as-a-tool-for-clinical-decision-making
#17
Jonathan Mayl, Hanisha Patel, Tushar Chandra
Moyamoya syndrome is a rare cerebrovasculopathy of unknown etiology which is associated with multiple risk factors. Moyamoya was first discovered in Japan and is reported to have an increased prevalence in the Japanese population. The term "Moyamoya" translates into "puff of smoke" and is named after the finding of the collateral cerebral vasculature that develops secondary to occlusion of an internal carotid artery at the entrance into the circle of Willis. This collateral vasculature characterizes the disease...
May 9, 2017: Curēus
https://www.readbyqxmd.com/read/28620009/recommendations-for-cancer-surveillance-in-individuals-with-rasopathies-and-other-rare-genetic-conditions-with-increased-cancer-risk
#18
REVIEW
Anita Villani, Mary-Louise C Greer, Jennifer M Kalish, Akira Nakagawara, Katherine L Nathanson, Kristian W Pajtler, Stefan M Pfister, Michael F Walsh, Jonathan D Wasserman, Kristin Zelley, Christian P Kratz
In October 2016, the American Association for Cancer Research held a meeting of international childhood cancer predisposition syndrome experts to evaluate the current knowledge of these syndromes and to propose consensus surveillance recommendations. Herein, we summarize clinical and genetic aspects of RASopathies and Sotos, Weaver, Rubinstein-Taybi, Schinzel-Giedion, and NKX2-1 syndromes as well as specific metabolic disorders known to be associated with increased childhood cancer risk. In addition, the expert panel reviewed whether sufficient data exist to make a recommendation that all patients with these disorders be offered cancer surveillance...
June 15, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28620008/pten-dicer1-fh-and-their-associated-tumor-susceptibility-syndromes-clinical-features-genetics-and-surveillance-recommendations-in-childhood
#19
REVIEW
Kris Ann P Schultz, Surya P Rednam, Junne Kamihara, Leslie Doros, Maria Isabel Achatz, Jonathan D Wasserman, Lisa R Diller, Laurence Brugières, Harriet Druker, Katherine A Schneider, Rose B McGee, William D Foulkes
PTEN hamartoma tumor syndrome (PHTS), DICER1 syndrome, and hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome are pleiotropic tumor predisposition syndromes that include benign and malignant neoplasms affecting adults and children. PHTS includes several disorders with shared and distinct clinical features. These are associated with elevated lifetime risk of breast, thyroid, endometrial, colorectal, and renal cancers as well as melanoma. Thyroid cancer represents the predominant cancer risk under age 20 years...
June 15, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28620007/von-hippel-lindau-and-hereditary-pheochromocytoma-paraganglioma-syndromes-clinical-features-genetics-and-surveillance-recommendations-in-childhood
#20
REVIEW
Surya P Rednam, Ayelet Erez, Harriet Druker, Katherine A Janeway, Junne Kamihara, Wendy K Kohlmann, Katherine L Nathanson, Lisa J States, Gail E Tomlinson, Anita Villani, Stephan D Voss, Joshua D Schiffman, Jonathan D Wasserman
Von Hippel-Lindau disease (vHL) is a hereditary tumor predisposition syndrome that places affected individuals at risk for multiple tumors, which are predominantly benign and generally occur in the central nervous system or abdomen. Although the majority of tumors occur in adults, children and adolescents with the condition develop a significant proportion of vHL manifestations and are vulnerable to delayed tumor detection and their sequelae. Although multiple tumor screening paradigms are currently being utilized for patients with vHL, surveillance should be reassessed as the available relevant clinical information continues to expand...
June 15, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
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