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Pediatric Syndromes

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https://www.readbyqxmd.com/read/29677033/characterization-of-the-glucocorticoid-receptor-in-children-undergoing-cardiac-surgery
#1
Saul Flores, David S Cooper, Amy M Opoka, Ilias Iliopoulos, Sarah Pluckebaum, Matthew N Alder, Kelli A Krallman, Rashmi D Sahay, Lin Fei, Hector R Wong
OBJECTIVES: Postoperative administration of corticosteroids is common practice for managing catecholamine refractory low cardiac output syndrome. Since corticosteroid activity is dependent on the glucocorticoid receptor, we sought to characterize glucocorticoid receptor levels in children undergoing cardiac surgery and examined the association between glucocorticoid receptor levels and cardiovascular dysfunction. DESIGN: Prospective observational cohort study. SETTING: Large, tertiary pediatric cardiac center...
April 19, 2018: Pediatric Critical Care Medicine
https://www.readbyqxmd.com/read/29675756/nodular-macroregenerative-tissue-as-a-pattern-of-regeneration-in-cholangiopathic-disorders
#2
Preston Roberts, Andrew T Trout, Jonathan R Dillman
BACKGROUND: Published case series have described central hepatic macroregenerative nodules or masses as a common feature of Alagille syndrome. Our experience suggests this regenerative pattern can be seen more generally in cholangiopathic disorders. OBJECTIVE: To define the frequency of central regenerative tissue in Alagille syndrome and other cholangiopathic disorders and to describe the typical appearance of such regenerative tissue. MATERIALS AND METHODS: We conducted a retrospective study of CT and MR imaging performed in children and young adults with cholangiopathic disorders between January 2000 and June 2016...
April 19, 2018: Pediatric Radiology
https://www.readbyqxmd.com/read/29675082/susac-s-syndrome-retinocochleocerebral-vasculopathy-follow-up-of-a-pediatric-patient
#3
Zeynep Selen Karalok, Birce Dilge Taskin, Alev Guven, Cemile Atilgan Ucgul, Omer Faruk Aydin
Susac's syndrome (SS) is a triad of encephalopathy, branch retinal artery occlusion (BRAO), and sensorineural hearing loss as a result of microvascular occlusions of the brain, retina, and inner ear. It is also a disorder of autoimmune endotheliopathy. SS usually affects young women between the age of 20 and 40 years. SS can be misdiagnosed as multiple sclerosis (MS) or acute disseminated encephalomyelitis (ADEM) because of similar findings. A 15-year-old girl presented in June 2015 with vomiting and severe headache...
October 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/29675073/digeorge-syndrome-with-sacral-myelomeningocele-and-epilepsy
#4
Gülsüm Alkan, Melike Keser Emiroglu, Ayse Kartal
DiGeorge syndrome (DGS) is the most common microdeletion syndrome. The phenotype of DGS is highly variable involving facial, velopharyngeal, cardiac, immunologic, endocrinal, and neuropsychiatric abnormalities. Although neural tube defects (NTDs) have not been described as components of DGS in standard pediatric textbooks, there have been a few case reports of DGS with NTDs. Furthermore, in patients with DGS, seizures can occur due to hypocalcemia or cortical dysgenesis. Few cases of epilepsy have been reported with NTDs without a cortical defect...
October 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/29675068/cerebellar-mutism-syndrome-following-midline-posterior-fossa-tumor-resection-in-children-an-institutional-experience
#5
Nand Kishore Gora, Ashok Gupta, Virendra Deo Sinha
Aim: Cerebellar mutism (CM) syndrome is a well-known and annoying complication of posterior fossa surgery in the pediatric age group. Risk factors such as the type of tumor, size, involvement of posterior fossa structures and hydrocephalus, and postoperative cerebellar swelling for CM were investigated in this study. Materials and Methods: A consecutive series of 33 children with midline posterior fossa tumors were operated at the SMS Medical College and Hospital, Department of Neurosurgery, Jaipur India, between September 2015 and December 2016...
October 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/29673098/wilkie-s-syndrome-in-monozygotic-twins-treated-by-3-d-laparoscopic-duodenojejunostomy
#6
Belén Aneiros Castro, Indalecio Cano Novillo, Araceli García Vázquez, Rubén Martín Alelu, Andrés Gómez Fraile
Superior mesenteric artery syndrome, also known as Wilkie's syndrome, is a rare cause of proximal duodenum obstruction in children. Here, we describe the first pediatric case of superior mesenteric artery syndrome in monozygotic twin brothers. Both patients underwent 3-D laparoscopic duodenojejunostomy at the same age with an uneventful recovery.
April 19, 2018: Asian Journal of Endoscopic Surgery
https://www.readbyqxmd.com/read/29672931/x-linked-ichthyosis-clinical-and-molecular-findings-in-35-italian-patients
#7
Andrea Diociaiuti, Adriano Angioni, Elisa Pisaneschi, Viola Alesi, Giovanna Zambruno, Antonio Novelli, May El Hachem
Recessive X-linked ichthyosis (XLI), the second most common ichthyosis, is caused by mutations in the STS gene encoding the steroid sulfatase enzyme. A complete deletion of the STS gene is found in 85-90% of cases. Rarely, larger deletions involving contiguous genes are detected in syndromic patients. We report the clinical and molecular genetic findings in a series of 35 consecutive Italian male patients. All patients underwent molecular testing by MLPA or aCGH, followed, in case of negative results, by next generation sequencing analysis...
April 19, 2018: Experimental Dermatology
https://www.readbyqxmd.com/read/29671499/poststreptococcal-illness-recognition-and-management
#8
David L Maness, Michael Martin, Gregg Mitchell
Group A beta-hemolytic streptococcus can cause several postinfectious, nonsuppurative immune- mediated diseases including acute rheumatic fever, poststreptococcal reactive arthritis, pediatric autoimmune neuropsychiatric disorders, and poststreptococcal glomerulonephritis. Except for sporadic outbreaks, poststreptococcal autoimmune syndromes occur most commonly in sub-Saharan Africa, India, Australia, and New Zealand. Children younger than three years are rarely affected by group A streptococcus pharyngitis or rheumatic fever, and usually do not require testing...
April 15, 2018: American Family Physician
https://www.readbyqxmd.com/read/29671081/type-2-diabetes-mellitus-the-metabolic-syndrome-and-its-components-in-adult-survivors-of-acute-lymphoblastic-leukemia-and-hematopoietic-stem-cell-transplantations
#9
REVIEW
Bella Bielorai, Orit Pinhas-Hamiel
PURPOSE OF REVIEW: A growing number of pediatric acute lymphoblastic leukemia (ALL) and hematopoietic stem cell transplantation (HSCT) survivors reach adulthood and face long-term health-related problems. We review risk factors and the prevalence of the metabolic syndrome (MetS), a cluster of obesity-related comorbidities, including abdominal obesity, atherogenic dyslipidemia, elevated blood pressure, impaired glucose metabolism, and type 2 diabetes in ALL and HSCT survivors. RECENT FINDINGS: Components of the MetS are already detected during the first year of ALL maintenance therapy and significantly worsen over time...
April 18, 2018: Current Diabetes Reports
https://www.readbyqxmd.com/read/29670872/a-challenging-treatment-decision-for-a-rare-association-case-report-of-familial-turcot-syndrome-with-fistulizing-crohn-s-disease
#10
Montserrat Corbera-Hincapie, Genie L Beasley
Turcot syndrome and fistulizing Crohn's disease (CD) are two disease entities that are not usually associated with one another, particularly given the rarity of the former. This is a case of a pediatric patient with fistulizing CD treated with biologic therapy, who was later found to have Turcot syndrome. Management of this rare combination of diseases can present several challenges, as surgical options may be limited and chronic immunosuppression to treat CD may lead to accelerated progression of malignancy in Turcot syndrome...
2018: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29670412/the-effect-of-tonsillectomy-on-obstructive-sleep-apnea-an-overview-of-systematic-reviews
#11
REVIEW
Lauren K Reckley, Camilo Fernandez-Salvador, Macario Camacho
Objective: Tonsillectomy with adenoidectomy is a combination surgery that has been used to treat pediatric obstructive sleep apnea (OSA). For adults, tonsillectomy has also been reported as a primary treatment modality when the tissue is hypertrophied. The objective of this study is to provide an overview of published systematic reviews and meta-analyses of tonsillectomy with or without adenoidectomy as used in the treatment of OSA in children and adults. Data sources: Nine databases, including PubMed/MEDLINE...
2018: Nature and Science of Sleep
https://www.readbyqxmd.com/read/29669602/cerebral-vasculitis-and-lateral-rectus-palsy-two-rare-central-nervous-system-complications-of-dengue-fever-two-case-reports-and-review-of-the-literature
#12
H M M Herath, J S Hewavithana, C M De Silva, O A R Kularathna, N P Weerasinghe
BACKGROUND: Dengue fever is a common mosquito-borne viral illness with a clinical spectrum ranging from a simple febrile illness to potentially life-threatening complications such as dengue hemorrhagic fever and dengue shock syndrome. Dengue infection can affect many organs, including the central nervous system. The neurological manifestations reported in dengue infections are meningitis, encephalitis, stroke, acute disseminated encephalomyelitis, and Guillain-Barré syndrome. CASE PRESENTATION: We report the cases of two interesting patients with confirmed dengue infection who presented with complications of possible central nervous system vasculitis and cranial nerve palsy...
April 19, 2018: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29669569/an-international-delphi-survey-for-the-definition-of-the-variables-for-the-development-of-new-classification-criteria-for-periodic-fever-aphtous-stomatitis-pharingitis-cervical-adenitis-pfapa
#13
Federica Vanoni, Silvia Federici, Jordi Antón, Karyl S Barron, Paul Brogan, Fabrizio De Benedetti, Fatma Dedeoglu, Erkan Demirkaya, Veronique Hentgen, Tilmann Kallinich, Ronald Laxer, Ricardo Russo, Natasa Toplak, Yosef Uziel, Alberto Martini, Nicolino Ruperto, Marco Gattorno, Michael Hofer
BACKGROUND: Diagnosis of Periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) is currently based on a set of criteria proposed in 1999 modified from Marshall's criteria. Nevertheless no validated evidence based set of classification criteria for PFAPA has been established so far. The aim of this study was to identify candidate classification criteria PFAPA syndrome using international consensus formation through a Delphi questionnaire survey. METHODS: A first open-ended questionnaire was sent to adult and pediatric clinicians/researchers, asking to identify the variables thought most likely to be helpful and relevant for the diagnosis of PFAPA...
April 18, 2018: Pediatric Rheumatology Online Journal
https://www.readbyqxmd.com/read/29669262/dna-mismatch-repair-in-cancer
#14
REVIEW
Marina Baretti, Dung T Le
Microsatellite instability (MSI) refers to the hypermutator phenotype secondary to frequent polymorphism in short repetitive DNA sequences and single nucleotide substitution, as consequence of DNA mismatch repair (MMR) deficiency. MSI secondary to germline mutation in DNA MMR proteins is the molecular fingerprint of Lynch Syndrome (LS), while epigenetic inactivation of these genes is more commonly found in sporadic MSI tumors. MSI occurs at different frequencies across malignancies, although original methods to assess MSI or MMR deficiency have been developed mostly in LS related cancers...
April 15, 2018: Pharmacology & Therapeutics
https://www.readbyqxmd.com/read/29668588/a-delayed-diagnosis-of-catecholaminergic-polymorphic-ventricular-tachycardia-with-a-mutant-of-ryr2-at-c-7580t-g-for-6-years-in-a-9-year-old-child
#15
Hongyu Duan, Yongyi Lu, Song Yan, Lina Qiao, Yimin Hua, Yifei Li, Kaiyu Zhou, Chuan Wang
RATIONALE: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare but potentially lethal inherited arrhythmia syndrome induced by adrenergic stress. Due to the atypical clinical manifestations in early age, limited recognition and experience of pediatric cardiologists, and low awareness of the significance of genetic diagnosis in some underdeveloped areas in China, a delayed or missed diagnosis of CPVT in children is common and concerning. PATIENT CONCERNS: A 9-year and 3-month male child with recurrent exercise-induced syncope accompanied by convulsion was initially misdiagnosed as epilepsy since the first manifestation at the age of 3 years...
April 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29667765/molecular-profile-of-inflammatory-and-megakaryocytic-factors-in-pediatric-myelodysplastic-syndrome-with-acute-myelofibrosis
#16
Kais Hussein, Meinolf Suttorp, Angelika Stucki-Koch, Irith Baumann, Charlotte M Niemeyer, Hans Kreipe
Pediatric fibrotic myelodysplastic syndromes (ped-MDS-MF) and pediatric primary myelofibrosis (ped-PMF) are rare, and the molecular changes which mediate fibrosis have never been investigated. Histology and gene expression profile of 119 fibrosis/angiogenesis/inflammation/megakaryopoiesis-related factors in bone marrow biopsies were performed (two ped-MDS-MF and one ped-PMF). In one progressive ped-MDS, comparison of MF grade 0 (no myelofibrosis) and MF grade 2 (dense network of reticulin fibres) after 4 months showed that expression of fibrosis-related transcripts increased and dysplastic megakaryocytes formed a dense net of CD42b+ proplatelets...
April 18, 2018: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/29666169/impact-of-transitional-care-on-endocrine-and-anthropometric-parameters-in-prader-willi-syndrome
#17
Anne-Cécile Paepegaey, Muriel Coupaye, Asma Jaziri, Florence Menesguen, Béatrice Dubern, Michel Polak, Jean-Michel Oppert, Maithe Tauber, Graziella Pinto, Christine Poitou
CONTEXT: The transition of patients with Prader-Willi syndrome (PWS) to adult life for medical care is challenging because of multiple comorbidities, including hormone deficiencies, obesity, and cognitive and behavioral disabilities. OBJECTIVE: To assess endocrine management, and metabolic and anthropometric parameters of PWS adults who received (n=31) or not (n=64) transitional care, defined as specialized pediatric care followed by a structured care pathway to a multidisciplinary adult team...
April 17, 2018: Endocrine Connections
https://www.readbyqxmd.com/read/29664868/active-transcutaneous-bone-conduction-implant-middle-fossa-placement-technique-in-children-with-bilateral-microtia-and-external-auditory-canal-atresia
#18
Carolina Der, Sofía Bravo-Torres, Nicolás Pons
AIM: The aim of this study is to present the middle fossa technique (MFT) as an alternative for patients who cannot undergo traditional surgery for active transcutaneous bone conduction implants (ATBCI) due to their altered anatomy or desire for future aesthetic reconstruction. DESIGN: A case series descriptive study was designed. The MFT was developed. Preoperative and postoperative information from 24 patients with external auditory canal atresia (EACA) and implanted with ATBCI was reviewed...
April 16, 2018: Otology & Neurotology
https://www.readbyqxmd.com/read/29664510/rapunzel-syndrome-with-double-simultaneous-trichobezoar-in-a-teenager-clinical-case-report
#19
Miguel Bargas Ochoa, María Xacur Hernández, Mariela Espadas Torres, Alexis Quintana Gamboa, Iddar Tappan Lavadores, Nina Méndez Domínguez
Resumen: Introduction: Trichobezoars are an intraluminal accumulation of ingested hair. The Rapunzel syndrome refers to the presence of gastric trichobezoars which extend to the small intestine together with trichotillomania and trichophagia, that occur predominantly in psychiatric patients of pediatric age. OBJECTIVE: To analyze the clinical course and resolution of this syndrome in a case report. Likewise, we provide information about the family environment and psycho-emotional context of the patients and help the reader identify similar circumstances in their clinical practice...
February 2018: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/29664509/congenital-hydrocephalus-g%C3%A3-mez-l%C3%A3-pez-hern%C3%A3-ndez-syndrome-an-underdiagnosed-syndrome-a-clinical-case
#20
Camila Gálvez V, Isidro Huete, Marta Hernández
INTRODUCTION: Hydrocephalus is defined as complex conditions influenced by genetic and environmental factors. Excluding hydrocephalus acquired from infection or brain tumors, congenital hydrocephalus with a genetic cause may occur isolated (hydrocephalus isolated, pure or non-syndromatic) or as a component of a genetic syndrome (syndromic hydrocephalus). OBJECTIVE: To present a syndromic congenital hydrocephalus with a known diagnosis, in order to be considered in the study of this pathology and to perform a review of hydrocephaly with a genetic cause...
February 2018: Revista Chilena de Pediatría
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