keyword
MENU ▼
Read by QxMD icon Read
search

Pediatric genetics

keyword
https://www.readbyqxmd.com/read/29785651/genetic-analysis-of-the-human-insulin-like-3-gene-in-pediatric-patients-with-testicular-torsion
#1
Anna Paola Capra, Elisa Ferro, Maria Angela La Rosa, Silvana Briuglia, Tiziana Russo, Salvatore Arena, Carmelo Salpietro Damiano, Carmelo Romeo, Pietro Impellizzeri
PURPOSE: Testicular torsion (TT) mainly affects boys under 18 years old. To avoid orchiectomy, TT requires an immediate operative management. The etiology of TT is still controversial. Observed familiar recurrence suggests the presence of a genetic involvement. The INSL3 gene consists of two exons, and it is specifically expressed in fetal and adult Leydig cells. In transgenic mice, deletion of this gene was observed an increased testicular mobility and testicular torsion. We have hypothesized the possible involvement of the INSL3 gene as a predisposing factor of human TT...
May 21, 2018: Pediatric Surgery International
https://www.readbyqxmd.com/read/29784537/artificial-intelligence-a-joint-narrative-on-potential-use-in-pediatric-stem-and-immune-cell-therapies-and-regenerative-medicine
#2
REVIEW
Irena Sniecinski, Jerard Seghatchian
Artificial Intelligence (AI) reflects the intelligence exhibited by machines and software. It is a highly desirable academic field of many current fields of studies. Leading AI researchers describe the field as "the study and design of intelligent agents". McCarthy invented this term in 1955 and defined it as "the science and engineering of making intelligent machines". The central goals of AI research are reasoning, knowledge, planning, learning, natural language processing (communication), perception and the ability to move and manipulate objects...
May 9, 2018: Transfusion and Apheresis Science
https://www.readbyqxmd.com/read/29784250/update-on-pediatric-onset-multiple-sclerosis
#3
REVIEW
A Ruet
Pediatric-onset multiple sclerosis (POMS) has distinctive features compared with adult-onset multiple sclerosis (AOMS), and warrants caution despite being a rare form of MS. POMS diagnostic criteria are somewhat different from those used in AOMS, with acute disseminated encephalomyelitis being a key differential diagnosis of MS in children. Other differential diagnoses that have to be ruled out before diagnosing MS include demyelinating syndromes, autoimmune and systemic pathologies, and infectious, genetic, metabolic and neoplastic diseases...
May 18, 2018: Revue Neurologique
https://www.readbyqxmd.com/read/29783821/-clinical-and-genetic-analysis-of-eleven-pediatric-patients-with-alagille-syndrome
#4
L Guo, S T Zhao, Y Cheng, M Deng, H Li, Y Z Song, X R Cai, Q Zhou
Objective: To explore the clinical and molecular genetic features of patients with Alagille syndrome (AS). Methods: The clinical data of eleven pediatric patients, who were suspected to have AS at the Department of Pediatrics in the First Affiliated Hospital of Jinan University from August 2010 to March 2017, were collected and analyzed. Genomic DNA was extracted from peripheral blood leukocytes of the patients and their parents. For 5 patients collected before March 2006, all JAG1 exons and their flanking sequences were directly sequenced...
May 2, 2018: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29781137/variants-in-actg2-underlie-a-substantial-number-of-australasian-patients-with-primary-chronic-intestinal-pseudo-obstruction
#5
G Ravenscroft, S Pannell, G O'Grady, R Ong, H C Ee, F Faiz, L Marns, H Goel, P Kumarasinghe, E Sollis, P Sivadorai, M Wilson, A Magoffin, S Nightingale, M-L Freckmann, E P Kirk, R Sachdev, D A Lemberg, M B Delatycki, M A Kamm, C Basnayake, P J Lamont, D J Amor, K Jones, J Schilperoort, M R Davis, N G Laing
BACKGROUND: Primary chronic intestinal pseudo-obstruction (CIPO) is a rare, potentially life-threatening disorder characterized by severely impaired gastrointestinal motility. The objective of this study was to examine the contribution of ACTG2, LMOD1, MYH11, and MYLK mutations in an Australasian cohort of patients with a diagnosis of primary CIPO associated with visceral myopathy. METHODS: Pediatric and adult patients with primary CIPO and suspected visceral myopathy were recruited from across Australia and New Zealand...
May 21, 2018: Neurogastroenterology and Motility: the Official Journal of the European Gastrointestinal Motility Society
https://www.readbyqxmd.com/read/29779933/-hereditary-optic-neuropathies-in-pediatric-ophthalmology
#6
C Orssaud, M P Robert, D Bremond Gignac
INTRODUCTION: Hereditary optic neuropathies (HON) often begin in adulthood. However, some of them can have an early onset. These may have specific clinical features and natural histories. PATIENTS AND METHODS: Retrospective study of HON patients with onset before the age of 14 years seen in a referral center. In addition to the age of onset, we evaluated the genetic etiology, visual acuity at 15 years, last best corrected visual acuity, optic disc appearance, visual field and extra-ophthalmological manifestations...
May 17, 2018: Journal Français D'ophtalmologie
https://www.readbyqxmd.com/read/29778231/clinical-germline-diagnostic-exome-sequencing-for-hereditary-cancer-findings-within-novel-candidate-genes-are-prevalent
#7
Zöe Powis, Carin R Espenschied, Holly LaDuca, Kelly D Hagman, Tripti Paudyal, Shuwei Li, Hiroto Inaba, Ann Mauer, Katherine L Nathanson, James Knost, Elizabeth C Chao, Sha Tang
Clinical diagnostic exome sequencing (DES) has been effective in diagnosing individuals with suspected genetic conditions; nevertheless little has been described regarding its clinical utility in individuals with a personal and family history of cancer. This study aimed to assess diagnostic yield and clinical characteristics of pediatric and adult patients undergoing germline DES for hereditary cancer. We retrospectively reviewed 2171 patients referred for DES; cases with a personal and/or family history of cancer were further studied...
August 2018: Cancer Genetics
https://www.readbyqxmd.com/read/29778033/weight-and-the-vitamin-k-expoxide-reductase-1-genotype-primarily-contribute-to-the-warfarin-dosing-in-pediatric-patients-with-kawasaki-disease
#8
Zhouping Wang, Li Zhang, Ping Huang, Xiaoqiong Gu, Xiaofei Xie, Yanfei Wang, Wei Li, Qiyi Zeng
INTRODUCTION: Warfarin therapy is recommended in children with giant coronary artery aneurysms (GCAAs) after Kawasaki disease (KD). Large individual variability makes it difficult to predict the warfarin dose. Polymorphisms in the vitamin K expoxide reductase 1 (VKORC1) and cytochrome P4502C9 (CYP2C9) genes have been reported to influence the warfarin dose. We investigated the effects of the VKORC1 and CYP2C9 genotypes on the warfarin dose in pediatric patients with giant CAAs after KD...
May 8, 2018: Thrombosis Research
https://www.readbyqxmd.com/read/29777447/integra-%C3%A2-dermal-regeneration-template-and-split-thickness-skin-grafting-a-therapy-approach-to-correct-aplasia-cutis-congenita-and-epidermolysis-bullosa-in-carmi-syndrome
#9
Julian Trah, Christina Has, Ingrid Hausser, Heinz Kutzner, Konrad Reinshagen, Ingo Königs
The association of junctional epidermolysis bullosa with pyloric atresia (JEB-PA) and aplasia cutis congenita (ACC) was described by El Shafie et al. (J Pediatr Surg 14(4):446-449, 1979) and Carmi et al. (Am J Med Genet 11:319-328, 1982). Most patients die in the first weeks of life, and no curative treatment options are available so far. We describe a patient with JEB-PA and ACC (OMIM # 226730) who was treated for extensive areas of ACC by Integra® -Dermal Regeneration Template and split-thickness skin grafting (STSG)...
May 18, 2018: Dermatology and Therapy
https://www.readbyqxmd.com/read/29777298/aortic-elasticity-deterioration-proves-intrinsic-abnormality-of-the-ascending-aorta-in-pediatric-turner-syndrome-unrelated-to-the-aortic-valve-morphology
#10
Christiane Pees, Julian A Heno, Gabriele Häusler, Diana-Alexandra Ertl, Talin Gulesserian, Ina Michel-Behnke
Turner syndrome (TS) is a common genetic disorder in females with high incidence of ascending aortic dilatation and even dissection occurring as early as in the second decade. Known risk factors (RF) are bicuspid aortic valves (BAV), coarctation of the aorta (CoA), and arterial hypertension. Since 10% of dissections occur in patients without RF, an intrinsic aortic wall abnormality has been postulated. This study aimed to investigate the elasticity of the ascending aorta as a surrogate marker of aortic wall texture...
May 18, 2018: Heart and Vessels
https://www.readbyqxmd.com/read/29776870/historical-bibliometric-analysis-of-the-top-cited-articles-on-vesicoureteral-reflux-1950-2016-and-incorporation-of-a-novel-impact-index
#11
N Fernandez, A Puerto, A Azuero, F O'Kelly, J Hannick, M Rickard, A Kirsch, A Caldamone, M Koyle
INTRODUCTION AND OBJECTIVES: Vesicoureteral reflux (VUR) has been one of the defining conditions unique to pediatric urology since its inception. The clinical implications of this disease process depend on intrinsic patient factors such as age, genetics, epigenetics, voiding habits, anatomic anomalies, and extrinsic factors such as the pathogenicity of infectious agents. Knowledge about its natural history, the implications of conservative and surgical management, and their associated outcomes have evolved dramatically over time...
April 24, 2018: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/29773196/reconsideration-of-the-immunotherapeutic-pediatric-safe-dose-levels-of-aluminum
#12
James Lyons-Weiler, Robert Ricketson
FDA regulations require safety testing of constituent ingredients in drugs (21 CFR 610.15). With the exception of extraneous proteins, no component safety testing is required for vaccines or vaccine schedules. The dosing of aluminum in vaccines is based on the production of antibody titers, not safety science. Here we estimate a Pediatric Dose Limit that considers body weight. We identify several serious historical missteps in past analyses of provisional safe levels of aluminum in vaccines, and provide updates relevant to infant aluminum exposure in the pediatric schedule considering pediatric body weight...
July 2018: Journal of Trace Elements in Medicine and Biology
https://www.readbyqxmd.com/read/29771953/mitochondrial-disease-patient-motivations-and-barriers-to-participate-in-clinical-trials
#13
Zarazuela Zolkipli-Cunningham, Rui Xiao, Amy Stoddart, Elizabeth M McCormick, Amy Holberts, Natalie Burrill, Shana McCormack, Lauren Williams, Xiaoyan Wang, John L P Thompson, Marni J Falk
BACKGROUND: Clinical treatment trials are increasingly being designed in primary mitochondrial disease (PMD), a phenotypically and genetically heterogeneous collection of inherited multi- system energy deficiency disorders that lack effective therapy. We sought to identify motivating factors and barriers to clinical trial participation in PMD. METHODS: A survey study was conducted in two independent mitochondrial disease subject cohorts. A discovery cohort invited subjects with well-defined biochemical or molecularly- confirmed PMD followed at a single medical center (CHOP, n = 30/67 (45%) respondents)...
2018: PloS One
https://www.readbyqxmd.com/read/29771759/finding-treatable-genetic-obesity-strategies-for-success
#14
Kristin Dayton, Jennifer Miller
PURPOSE OF REVIEW: Genetic obesity is responsible for up to 7% of severe childhood obesity. Although current Pediatric Endocrine Society guidelines recommend assessment of children with early-onset morbid obesity and hyperphagia for underlying genetic disorders, a vast majority of patients are not being appropriately screened for genetic obesity syndromes. RECENT FINDINGS: With advances in genetic testing, more genetic causes of obesity are being identified. Treatments are likely to be individualized, depending on the cause of the obesity, and must be targeted at addressing the underlying cause...
May 15, 2018: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/29770612/identification-of-novel-mutations-causing-pediatric-cataract-in-bhutan-cambodia-and-sri-lanka
#15
Shari Javadiyan, Sionne E M Lucas, Dechen Wangmo, Meng Ngy, Kapila Edussuriya, Jamie E Craig, Adam Rudkin, Robert Casson, Dinesh Selva, Shiwani Sharma, Karen M Lower, James Meucke, Kathryn P Burdon
BACKGROUND: Pediatric cataract is an important cause of blindness and visual impairment in children. A large proportion of pediatric cataracts are inherited, and many genes have been described for this heterogeneous Mendelian disease. Surveys of schools for the blind in Bhutan, Cambodia, and Sri Lanka have identified many children with this condition and we aimed to identify the genetic causes of inherited cataract in these populations. METHODS: We screened, in parallel, 51 causative genes for inherited cataracts in 33 probands by Ampliseq enrichment and sequencing on an Ion Torrent PGM...
May 16, 2018: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29769579/hla-class-ii-haplotypes-and-autism-spectrum-disorders
#16
Meriem Bennabi, Alexandru Gaman, Richard Delorme, Wahid Boukouaci, Céline Manier, Isabelle Scheid, Nassima Si Mohammed, Djaouida Bengoufa, Dominique Charron, Rajagopal Krishnamoorthy, Marion Leboyer, Ryad Tamouza
Infections and autoimmunity are associated with autism spectrum disorders (ASD), with both strongly influenced by the genetic regulation of the human leukocyte antigen (HLA) system. The relationship between ASD and the HLA genetic diversity requires further investigation. Using a case control design, the distribution of HLA class II-DRB1 and DQB1 alleles, genotypes and haplotypes were investigated in ASD patients, versus healthy controls (HC). ASD patients meeting DSM-IV TR criteria and HC (474 and 350 respectively) were genotyped at medium resolution using a Luminex-based SSO technology...
May 16, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29766225/potential-common-pathogenic-pathways-for-the-left-ventricular-noncompaction-cardiomyopathy-lvnc
#17
Ying Liu, Hanying Chen, Weinian Shou
Ventricular trabeculation and compaction are two essential morphogenetic events for generating a functionally competent ventricular wall. A significant reduction in trabeculation is usually associated with hypoplastic wall and ventricular compact zone deficiencies, which commonly leads to embryonic heart failure and early embryonic lethality. In contrast, the arrest of ventricular wall compaction (noncompaction) is believed to be causative to the left ventricular noncompaction (LVNC), a genetically heterogeneous disorder and the third most common cardiomyopathy among pediatric patients...
May 15, 2018: Pediatric Cardiology
https://www.readbyqxmd.com/read/29765367/detection-of-bacteriophage-particles-containing-antibiotic-resistance-genes-in-the-sputum-of-cystic-fibrosis-patients
#18
Maryury Brown-Jaque, Lirain Rodriguez Oyarzun, Thais Cornejo-Sánchez, Maria T Martín-Gómez, Silvia Gartner, Javier de Gracia, Sandra Rovira, Antonio Alvarez, Joan Jofre, Juan J González-López, Maite Muniesa
Cystic fibrosis (CF) is a chronic disease in which the bacterial colonization of the lung is linked to an excessive inflammatory response that leads to respiratory failure. The microbiology of CF is complex. Staphylococcus aureus is the first bacterium to colonize the lungs in 30% of pediatric CF patients, and 80% of adult patients develop a chronic Pseudomonas aeruginosa infection, but other microorganisms can also be found. The use of antibiotics is essential to treat the disease, but antibiotic performance is compromised by resistance mechanisms...
2018: Frontiers in Microbiology
https://www.readbyqxmd.com/read/29765245/the-epidemiology-of-outpatient-pain-treatment-in-pediatrics
#19
Stacy Baldridge, Laura Wallace, Aditi Kadakia
Background: There is limited real-world, population-level data on the prevalence and treatment of pain in children. An understanding of pediatric pain conditions and its management can help inform provider education, treatment guidelines, and design of pediatric pain studies. Therefore, in this study, we aimed to describe the prevalence of conditions associated with acute and chronic pain in pediatric patients and to characterize pediatric pain treatment with nonsteroidal anti-inflammatory drugs, cyclooxygenase-2 (COX-2) inhibitors, opioids (immediate release or extended release), antidepressants, topical analgesics, anticonvulsants, and other therapies based on a large, real-world sample...
2018: Journal of Pain Research
https://www.readbyqxmd.com/read/29764567/-features-and-management-of-very-early-onset-inflammatory-bowel-disease
#20
Jie-Yu You
Inflammatory bowel disease (IBD) is a chronic nonspecific intestinal inflammatory disease of unknown etiology. This disease includes three main types: Crohn′s disease (CD), ulcerative colitis (UC), and IBD-unclassified (IBD-U). IBD is frequently presented in adults, but in recent years, there is a rising incidence in pediatric populations. Very early onset IBD (VEO-IBD) is a fraction of pediatric IBD, but they have exclusive phenotypic and genetic characteristics such that they are accompanied by severe disease course and resistance to conventional therapy...
May 2018: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
keyword
keyword
26463
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"