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Pediatric Syndromes

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https://www.readbyqxmd.com/read/28324239/mtdna-maintenance-defects-syndromes-and-genes
#1
Carlo Viscomi, Massimo Zeviani
A large group of mitochondrial disorders, ranging from early-onset pediatric encephalopathic syndromes to late-onset myopathy with chronic progressive external ophthalmoplegia (CPEOs), are inherited as Mendelian disorders characterized by disturbed mitochondrial DNA (mtDNA) maintenance. These errors of nuclear-mitochondrial intergenomic signaling may lead to mtDNA depletion, accumulation of mtDNA multiple deletions, or both, in critical tissues. The genes involved encode proteins belonging to at least three pathways: mtDNA replication and maintenance, nucleotide supply and balance, and mitochondrial dynamics and quality control...
March 21, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28324185/diameters-and-bone-thickness-at-the-margin-of-the-foramen-magnum-in-dry-skulls-from-pediatric-population-a-cross-sectional-anatomical-study
#2
Marina Raguz, Pero Hrabac, Dora Sedmak, Miroslav Gjurasin, Natasa Kovacic
PURPOSE: The purpose of the study was to estimate the size and bone thickness at the margin of the foramen magnum in a pediatric population. METHODS: Sixty occipital bone specimens from the collection of macerated skulls at the Department of Anatomy, University of Zagreb, were examined and measured using a vernier scale/caliper. For the purpose of analysis, specimens were divided into two age groups: 1-6 years and 7-18 years of age (before and after the fusion of ossification centers in the occipital bone)...
March 21, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28324110/effects-of-metreleptin-in-pediatric-patients-with-lipodystrophy
#3
Rebecca J Brown, Cristina Adelia Meehan, Elaine Cochran, Kristina I Rother, David E Kleiner, Mary Walter, Phillip Gorden
Context: Lipodystrophy syndromes are rare disorders of deficient adipose tissue. Metreleptin, a human analog of leptin, improved metabolic abnormalities in mixed cohorts of leptin-deficient children and adults with lipodystrophy. Objective: Determine effects of metreleptin on diabetes, hyperlipidemia, non-alcoholic fatty liver disease (NAFLD), growth, and puberty in leptin-deficient pediatric patients with lipodystrophy. Design: Prospective, single-arm, open-label studies with continuous enrollment since 2000...
January 23, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28323911/monogenic-diabetes-accounts-for-6-3-of-cases-referred-to-15-italian-pediatric-diabetes-centers-during-2007-2012
#4
Maurizio Delvecchio, Enza Mozzillo, Giuseppina Salzano, Dario Iafusco, Giulio Frontino, Patrizia I Patera, Ivana Rabbone, Valentino Cherubini, Valeria Grasso, Nadia Tinto, Sabrina Giglio, Giovanna Contreas, Rosa Di Paola, Alessandro Salina, Vittoria Cauvin, Stefano Tumini, Giuseppe d'Annunzio, Lorenzo Iughetti, Vilma Mantovani, Giulio Maltoni, Sonia Toni, Marco Marigliano, Fabrizio Barbetti
Context: Etiologic diagnosis of diabetes may impact on therapeutic strategy, and prognosis of chronic complications. Objective: The aim of the study was to establish the relative percentage of different diabetes subtypes in patients attending Italian pediatric diabetes centers, and the influence of etiologic diagnosis on therapy. Design, Setting and Patients: This was a retrospective study. Clinical records of 3781 consecutive patients (age: 0-18 years) referred to fifteen pediatric diabetes clinics and diagnosed with diabetes or IFG between Jan/1/2007 and Dec/31/2012 were examined...
February 16, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28323644/pediatric-acute-compartment-syndrome
#5
Kristin S Livingston, Michael P Glotzbecker, Benjamin J Shore
Pediatric acute compartment syndrome (PACS) is a clinical entity that must be carefully differentiated from the adult version (ie, acute compartment syndrome). Healthcare providers must understand the variable etiologies of PACS, of which trauma is the most common but can also include vascular insult, infection, surgical positioning, neonatal phenomena, overexertion, and snake and insect bites. In addition to the unique etiologies of PACS, providers must also recognize the different signs and symptoms of PACS...
March 17, 2017: Journal of the American Academy of Orthopaedic Surgeons
https://www.readbyqxmd.com/read/28319601/effectiveness-of-double-balloon-enteroscopy-facilitated-polypectomy-in-paediatric-patients-with-peutz-jeghers-syndrome
#6
Dalia Belsha, Arun Urs, Thomas Attard, Mike Thomson
BACKGROUND: Sizable small-bowel (SB) polyps in Peutz-Jeghers syndrome (PJS) pose a high risk for intussusception, often necessitating laparotomy and intraoperative-enteroscopy (IOE). This series examines the effectiveness of double-balloon enteroscopy (DBE) facilitated polypectomy for pediatric patients with PJS. METHODS: Prospective analysis of collected data (6 years) on all patients with PJS referred for DBE-facilitated SB polypectomy at a pediatric tertiary-referral center...
March 17, 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28318500/mutations-in-tmem260-cause-a-pediatric-neurodevelopmental-cardiac-and-renal-syndrome
#7
Asaf Ta-Shma, Tahir N Khan, Asaf Vivante, Jason R Willer, Pavle Matak, Chaim Jalas, Ben Pode-Shakked, Yishay Salem, Yair Anikster, Friedhelm Hildebrandt, Nicholas Katsanis, Orly Elpeleg, Erica E Davis
Despite the accelerated discovery of genes associated with syndromic traits, the majority of families affected by such conditions remain undiagnosed. Here, we employed whole-exome sequencing in two unrelated consanguineous kindreds with central nervous system (CNS), cardiac, renal, and digit abnormalities. We identified homozygous truncating mutations in TMEM260, a locus predicted to encode numerous splice isoforms. Systematic expression analyses across tissues and developmental stages validated two such isoforms, which differ in the utilization of an internal exon...
March 11, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28315881/new-insights-on-early-patterns-of-respiratory-disease-among-extremely-low-gestational-age-newborns
#8
Stefano Nobile, Paolo Marchionni, Giovanni Vento, Valentina Vendettuoli, Claudio Marabini, Alessandra Lio, Cinzia Ricci, Domenica Mercadante, Mariarosa Colnaghi, Fabio Mosca, Costantino Romagnoli, Virgilio Carnielli
BACKGROUND: The analysis of early patterns of lung disease among preterm infants may help to identify predictors of pulmonary deterioration. OBJECTIVES: To analyze FIO2 requirement in the first 14 days of life among preterm infants and to find predictors of bronchopulmonary dysplasia (BPD). METHODS: Retrospective cohort study. SETTING: 3 Italian level III NICUs. POPULATION: infants born between 240/7 and 276/7 weeks' gestational age (GA) who survived to 14 days...
March 18, 2017: Neonatology
https://www.readbyqxmd.com/read/28315560/cytokine-release-syndrome-inpatient-care-for-side-effects-of-car-t-cell-therapy%C3%A2
#9
Laura Smith, Kimberly Venella
BACKGROUND: Pediatric patients with relapsed and refractory acute lymphoblastic leukemia are more often being treated with chimeric antigen receptor (CAR) T-cell therapy. As with any new therapy, the management of this patient population has a unique set of challenges. The side effects of this therapy can range from mild to severe, with cytokine release syndrome being the most common reason for hospitalization.
. OBJECTIVES: This article presents common side effects, treatments, and challenges of caring for hospitalized patients who have received CAR T-cell therapy...
April 1, 2017: Clinical Journal of Oncology Nursing
https://www.readbyqxmd.com/read/28314972/-rare-diseases-with-clinical-relevance-the-silver-russell-syndrome
#10
C Neissner, C Schepp, W H Rösch
The Silver-Russell syndrome (SRS) is a rare imprinting disease associated with pre- and postnatal growth retardation, craniofacial features, and asymmetry. Genitourinary abnormalities are seen in up to 20% of affected individuals. Apart from structural renal anomalies, cryptorchidism and hypospadias occur frequently in boys, while girls often have anomalies similar to those in Mayer-Rokitansky-Küster-Hauser syndrome with congenital hypoplasia or aplasia of the uterus and upper part of the vagina. Frequently hypospadias repair and orchiopexy are difficult because of lack of buccal mucosa due to facial dysmorphism and intraabdominal position of the testicles, respectively...
March 17, 2017: Der Urologe. Ausg. A
https://www.readbyqxmd.com/read/28314701/genitourinary-involvement-and-management-in-children-with-stevens-johnson-syndrome-and-toxic-epidermal-necrolysis
#11
J P Van Batavia, D I Chu, C J Long, M Jen, D A Canning, D A Weiss
BACKGROUND: Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are devastating hypersensitivity disorders that cause epidermal cell death and can affect all epidermal surfaces, including the urethra, vagina, labial and scrotal skin. Despite the well-described ocular and orofacial manifestations of SJS/TEN, there is a paucity of reports on the genitourinary (GU) symptoms and their management. Specifically, consulting services often ask the pediatric urology team if it is safe to place a urethral catheter, but there is no data in the literature to help guide management...
February 27, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28314199/unusual-ultrasound-appearance-of-small-bowel-intussusception-and-secondary-bowel-obstruction-in-a-child-with-peutz-jeghers-syndrome
#12
Lei Wu, Ramesh S Iyer, George T Drugas, A Luana Stanescu
Small bowel intussusception (SBI) in pediatric patients resolves spontaneously in the majority of cases. Pathologic small bowel intussusception with a lead point is rare in children. Ultrasound (US) is the preferred initial imaging study for the diagnosis of intussusception. We report a case of long-segment SBI and secondary bowel obstruction caused by a large hamartomatous polyp. This case emphasizes unique, atypical ultrasound findings that may be encountered in small bowel intussusception, with correlative radiographic, CT (computed tomography) and intra-operative findings...
March 9, 2017: Clinical Imaging
https://www.readbyqxmd.com/read/28306183/flavivirus-cross-reactivity-in-serological-tests-and-guillain-barr%C3%A3-syndrome-in-a-hematopoietic-stem-cell-transplant-patient-a-case-report
#13
Sonia M Raboni, Carmem Bonfim, Bernardo M Almeida, Camila Zanluca, Andrea C Koishi, Paula R V P Rodrigues, Claudia K Kay, Lisandro L Ribeiro, Rosana H Scola, Claudia N Duarte Dos Santos
Serological diagnosis of flavivirus infection is a challenge, particularly in the context of a disease associated with immune response enhancement in a transplant patient, where aspects such as previous flavivirus infections may be involved with the outcome. We report a case of a pediatric patient who developed Guillain-Barré syndrome (GBS) after matched-unrelated hematopoietic stem cell transplantation (HSCT). The patient lives in a Brazilian region that is experiencing an epidemic of Zika virus (ZIKV) and dengue virus (DENV)...
March 17, 2017: Transplant Infectious Disease: An Official Journal of the Transplantation Society
https://www.readbyqxmd.com/read/28303771/epidemiology-and-outcome-of-acute-kidney-injury-in-children-a-single-center-study
#14
Werner Keenswijk, Jill Vanmassenhove, Ann Raes, Evelyn Dhont, Johan VandeWalle
BACKGROUND: Information on the epidemiology of Acute Kidney Injury (AKI) in children is scarce. We performed a single center retrospective cohort study to analyze the incidence of AKI, the male/female ratio, the underlying etiology, and age at presentation. We also aimed to assess outcome measured by mortality, duration of PICU stay, and development of Chronic Kidney Disease (CKD). METHODS: Records were searched for children presenting with or developing AKI between 1st January 2008 and 1st January 2015...
March 17, 2017: Acta Clinica Belgica
https://www.readbyqxmd.com/read/28303518/potentially-life-threatening-coagulopathy-associated-with-simultaneous-reduction-in-coagulation-and-fibrinolytic-function-in-pediatric-acute-leukemia-after-hematopoietic-stem-cell-transplantation
#15
Takashi Ishihara, Keiji Nogami, Tomoko Matsumoto, Akitaka Nomura, Yasufumi Takeshita, Satoshi Ochi, Midori Shima
The pathogenesis of sinusoidal obstruction syndrome (SOS) and thrombotic microangiopathy (TMA) after hematopoietic stem cell transplantation (HSCT) is poorly understood, and limited information is available on global hemostatic function in HSCT. We assessed changes in coagulation and fibrinolysis using a simultaneous thrombin and plasmin generation assay (T/P-GA) during HSCT. Measurements of endogenous thrombin potential (T-EP) and plasmin peak height (P-Peak) using T/P-GA in six pediatric acute leukemia patients treated with HSCT were compared to normal plasma...
March 16, 2017: International Journal of Hematology
https://www.readbyqxmd.com/read/28303389/variability-of-diagnostic-criteria-and-treatment-of-idiopathic-nephrotic-syndrome-across-european-countries
#16
Georges Deschênes, Marina Vivarelli, Licia Peruzzi
The aim of the surveys conducted by the Idiopathic Nephrotic Syndrome Working Group of the ESPN was to study the possible variability of treatment in Europe at different stages of the disease by means of questionnaires sent to members of the Working Group. Four surveys have been completed: treatment of the first flare, treatment of the first relapse and the issue of steroid dependency, use of rituximab, and the management of steroid-resistant patients. A uniform treatment of the first flare was applied in only three countries, and ten additional centers have adopted one of the three main protocols...
March 16, 2017: European Journal of Pediatrics
https://www.readbyqxmd.com/read/28303324/short-qt-syndrome-in-pediatrics
#17
REVIEW
Roberta Pereira, Oscar Campuzano, Georgia Sarquella-Brugada, Sergi Cesar, Anna Iglesias, Josep Brugada, Fernando E S Cruz Filho, Ramon Brugada
Short QT syndrome is a malignant cardiac disease characterized by the presence of ventricular tachyarrhythmias leading to syncope and sudden cardiac death. Currently, international guidelines establish diagnostic criteria when QTc is below 340 ms. This entity is one of the main diseases responsible for sudden cardiac death in the pediatric population. In recent years, clinical, genetic and molecular advances in pathophysiological mechanisms related to short QT syndrome have improved diagnosis, risk stratification, and preventive measures...
March 16, 2017: Clinical Research in Cardiology: Official Journal of the German Cardiac Society
https://www.readbyqxmd.com/read/28302743/heart-failure-in-pediatric-patients-with-congenital-heart-disease
#18
Robert B Hinton, Stephanie M Ware
Heart failure (HF) is a complex clinical syndrome resulting from diverse primary and secondary causes and shared pathways of disease progression, correlating with substantial mortality, morbidity, and cost. HF in children is most commonly attributable to coexistent congenital heart disease, with different risks depending on the specific type of malformation. Current management and therapy for HF in children are extrapolated from treatment approaches in adults. This review discusses the causes, epidemiology, and manifestations of HF in children with congenital heart disease and presents the clinical, genetic, and molecular characteristics that are similar or distinct from adult HF...
March 17, 2017: Circulation Research
https://www.readbyqxmd.com/read/28302143/altered-aortic-3d-hemodynamics-and-geometry-in-pediatric-marfan-syndrome-patients
#19
Roel L F van der Palen, Alex J Barker, Emilie Bollache, Julio Garcia, Michael J Rose, Pim van Ooij, Luciana T Young, Arno A W Roest, Michael Markl, Joshua D Robinson, Cynthia K Rigsby
BACKGROUND: Blood flow dynamics make it possible to better understand the development of aortopathy and cardiovascular events in patients with Marfan syndrome (MFS). Aortic 3D blood flow characteristics were investigated in relation to aortic geometry in children and adolescents with MFS. METHODS: Twenty-five MFS patients (age 15.6 ± 4.0 years; 11 females) and 21 healthy controls (age 16.0 ± 2.6 years; 12 females) underwent magnetic resonance angiography and 4D flow CMR for assessment of thoracic aortic size and 3D blood flow velocities...
March 17, 2017: Journal of Cardiovascular Magnetic Resonance
https://www.readbyqxmd.com/read/28301468/recessive-coding-and-regulatory-mutations-in-fblim1-underlie-the-pathogenesis-of-chronic-recurrent-multifocal-osteomyelitis-crmo
#20
Allison J Cox, Benjamin W Darbro, Ronald M Laxer, Gabriel Velez, Xinyu Bing, Alexis L Finer, Albert Erives, Vinit B Mahajan, Alexander G Bassuk, Polly J Ferguson
Chronic recurrent multifocal osteomyelitis (CRMO) is a rare, pediatric, autoinflammatory disease characterized by bone pain due to sterile osteomyelitis, and is often accompanied by psoriasis or inflammatory bowel disease. There are two syndromic forms of CRMO, Majeed syndrome and DIRA, for which the genetic cause is known. However, for the majority of cases of CRMO, the genetic basis is unknown. Via whole-exome sequencing, we detected a homozygous mutation in the filamin-binding domain of FBLIM1 in an affected child with consanguineous parents...
2017: PloS One
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