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Roxann Diez Gross, Ronit Gisser, Gregory Cherpes, Katie Hartman, Rishi Maheshwary
Prader-Willi Syndrome (PWS) is caused by a genetic imprinting abnormality resulting from the lack of expression of the paternal genes at 15q11-q13. Intellectual disability, low muscle tone, and life-threatening hyperphagia are hallmarks of the phenotype. The need for the Heimlich maneuver, death from choking, and pulmonary infection occur in a disproportionally high number of persons with PWS. The widely held belief is that eating behaviors are responsible for choking and aspiration; yet, no investigation had sought to determine if swallowing impairments were present in persons with PWS...
October 19, 2016: American Journal of Medical Genetics. Part A
Tianyi Wang, Hui Cai, Shizuka Sasazuki, Shoichiro Tsugane, Wei Zheng, Eo Rin Cho, Sun Ha Jee, Angelika Michel, Michael Pawlita, Yong-Bing Xiang, Yu-Tang Gao, Xiao-Ou Shu, Wei-Cheng You, Meira Epplein
Epidemiological findings on the association between fruit and vegetable consumption and gastric cancer risk remain inconsistent. The present analysis included 810 prospectively ascertained non-cardia gastric cancer cases and 1,160 matched controls from the Helicobacter pylori Biomarker Cohort Consortium, which collected blood samples, demographic, lifestyle, and dietary data at baseline. Conditional logistic regression adjusting for total energy intake, smoking, and H. pylori status, was applied to calculate odds ratios (ORs) and 95% confidence intervals (CIs) for gastric cancer risk across cohort- and sex-specific quartiles of fruit and vegetable intake...
October 19, 2016: International Journal of Cancer. Journal International du Cancer
Gilles Maussion, Cristiana Cruceanu, Jill A Rosenfeld, Scott C Bell, Fabrice Jollant, Jin Szatkiewicz, Ryan L Collins, Carrie Hanscom, Ilaria Kolobova, Nicolas Menjot de Champfleur, Ian Blumenthal, Colby Chiang, Vanessa Ota, Christina Hultman, Colm O'Dushlaine, Steve McCarroll, Martin Alda, Sebastien Jacquemont, Zehra Ordulu, Christian R Marshall, Melissa T Carter, Lisa G Shaffer, Pamela Sklar, Santhosh Girirajan, Cynthia C Morton, James F Gusella, Gustavo Turecki, Dimitri J Stavropoulos, Patrick F Sullivan, Stephen W Scherer, Michael E Talkowski, Carl Ernst
We performed whole-genome sequencing on an individual from a family with variable psychiatric phenotypes that had a sensory processing disorder, apraxia, and autism. The proband harbored a maternally inherited balanced translocation (46,XY,t(11;14)(p12;p12)mat) that disrupted LRRC4C, a member of the highly specialized netrin G family of axon guidance molecules. The proband also inherited a paternally derived chromosomal inversion that disrupted DPP6, a potassium channel interacting protein. Copy Number (CN) analysis in 14,077 cases with neurodevelopmental disorders and 8,960 control subjects revealed that 60% of cases with exonic deletions in LRRC4C had a second clinically recognizable syndrome associated with variable clinical phenotypes, including 16p11...
October 19, 2016: American Journal of Medical Genetics. Part A
M Formánek, D Jančatová, P Komínek, P Matoušek, K Zeleník
OBJECTIVE: The human papillomavirus causes recurrent respiratory papillomatosis. Although human papillomavirus prevalence is high, the incidence of papillomatosis is low. Thus, factors other than human papillomavirus infection probably contribute to recurrent respiratory papillomatosis. This study investigated whether patients with papillomatosis are more often infected with herpes simplex virus type 2 and chlamydia trachomatis and whether laryngopharyngeal reflux occurs in this group of patients more often...
October 19, 2016: Clinical Otolaryngology
Marlen Vitales-Noyola, Rita Martínez-Martínez, Juan P Loyola-Rodríguez, Lourdes Baranda, Perla Niño-Moreno, Roberto González-Amaro
BACKGROUND: Periodontal disease is chronic inflammatory process that affects the attachment structures of the teeth and constitutes a significant cause of tooth loss in adults. Although different bacteria play an important role in the triggering of this condition, the progression and severity of the disease are strongly affected by the host immune response, which is under the control of different immune-regulatory mechanisms, including T regulatory (Treg) cells. The aim of this study was to assess the frequency and function of CD69(+) Treg lymphocytes in patients with chronic periodontal disease...
October 19, 2016: Journal of Oral Pathology & Medicine
E Ylinen, L Salmela, J Peräsaari, T Jaatinen, A Tenca, O Vapalahti, M Färkkilä, H Jalanko, K-L Kolho
AIM: The human leukocyte antigen (HLA) allele and haplotype frequencies of the Finnish population are unique because of the restricted and homogenous gene population. There are no published data on HLA genotype associations in paediatric autoimmune liver diseases in Scandinavia. This study characterised the HLA genotypes of children with autoimmune liver or biliary disease in Finland. METHODS: The study cohort comprised 19 paediatric patients (13 female) aged 3-15 years treated for autoimmune liver or biliary disease at the Children's Hospital, Helsinki University Hospital, between 2000 and 2011 and followed up for 4...
October 19, 2016: Acta Paediatrica
Allison P O'Leary, Vladimir M Sloutsky
Two experiments investigated the development of metacognitive monitoring and control, and conditions under which children engage these processes. In Experiment 1, 5-year-olds (N = 30) and 7-year-olds (N = 30), unlike adults (N = 30), showed little evidence of either monitoring or control. In Experiment 2, 5-year-olds (N = 90) were given performance feedback (aimed at improving monitoring), instruction to follow a particular strategy (aimed at improving control), or both. Across conditions, feedback improved children's monitoring, and instruction improved both monitoring and control...
October 19, 2016: Child Development
Nairán Ramírez-Esparza, Adrián García-Sierra, Patricia K Kuhl
This study tested the impact of child-directed language input on language development in Spanish-English bilingual infants (N = 25, 11- and 14-month-olds from the Seattle metropolitan area), across languages and independently for each language, controlling for socioeconomic status. Language input was characterized by social interaction variables, defined in terms of speech style ("parentese" vs. standard speech) and social context (one-on-one vs. group). Correlations between parentese one-on-one and productive vocabulary at 24 months (n = 18) were found across languages and in each language independently...
October 19, 2016: Child Development
Rosemary Fama, Edith V Sullivan, Stephanie A Sassoon, Adolf Pfefferbaum, Natalie M Zahr
BACKGROUND: Executive functioning and episodic memory impairment occur in HIV infection (HIV) and chronic alcoholism (ALC). Comorbidity of these conditions (HIV + ALC) is prevalent and heightens risk of vulnerability to separate and compounded deficits. Age and disease-related variables can also serve as mediators of cognitive impairment and should be considered, given the extended longevity of HIV-infected individuals in this era of improved pharmacological therapy. METHODS: HIV, ALC, HIV + ALC, and normal controls (NC) were administered traditional and computerized tests of executive function and episodic memory...
October 19, 2016: Alcoholism, Clinical and Experimental Research
Massimo Del Fabbro, Stefano Corbella, Patrick Sequeira-Byron, Igor Tsesis, Eyal Rosen, Alessandra Lolato, Silvio Taschieri
BACKGROUND: When primary root canal therapy fails, periapical lesions can be retreated with or without surgery. Root canal retreatment is a non-surgical procedure that involves removal of root canal filling materials from the tooth, followed by cleaning, shaping and obturating of the canals. Root-end resection is a surgical procedure that involves exposure of the periapical lesion through an osteotomy, surgical removal of the lesion, removal of part of the root-end tip, disinfection and, commonly, retrograde sealing or filling of the apical portion of the remaining root canal...
October 19, 2016: Cochrane Database of Systematic Reviews
Zühtü Özbek, Hasan Emre Aydin, Atacan Emre Koçman, Emre Özkara, Erdem Söztutar, Ezgi Bektur, Murat Vural, Aydan Köse, Ali Arslantaş, Cengiz Bayçu
AIM: In this study, we investigated the effects of genistein in a rat model of sciatic nerve crush injury and complete sciatic nerve transection. The effects of genistein were compared with those of gabapentin, which is widely used in clinical practice for peripheral nerve injury. MATERIAL AND METHODS: Forty-eight rats were randomly divided into six groups (n = 8 for all groups): group 1 (sham); group 2, sciatic nerve crush injury (control); group 3, sciatic nerve crush injury + genistein 20 mg/kg; group 4, sciatic nerve crush injury + gabapentin 90 mg/kg; group 5, sciatic nerve transection + genistein 20 mg/kg; group 6, sciatic nerve transection + gabapentin 90 mg/kg...
September 21, 2016: Turkish Neurosurgery
John J Wroblewski, Allen Y Hu
BACKGROUND AND OBJECTIVE: To evaluate the effects of squalamine (OHR-102; Ohr Pharmaceuticals, New York, NY) and ranibizumab (Lucentis; Genentech, South San Francisco, CA) on macular edema (ME) secondary to retinal vein occlusion (RVO). PATIENTS AND METHODS: Twenty consecutive, treatment-naïve patients with RVO-related ME received topical squalamine and intravitreal ranibizumab 0.5 mg for 10 weeks, followed by randomization to continue or discontinue squalamine...
October 1, 2016: Ophthalmic Surgery, Lasers & Imaging Retina
Christiane Al-Haddad, Maamoun Abdul Fattah, Karine Ismail, Ziad Bashshur
BACKGROUND AND OBJECTIVE: To detect changes in the choroidal layer at the macular area in amblyopic eyes. PATIENTS AND METHODS: A cross-sectional study of 50 amblyopic patients (20 strabismic and 30 anisometropic) and 50 controls was done. Cross-sectional images using enhanced depth optical coherence tomography (OCT) were taken. Thicknesses were measured subfoveally and at 1,500 µm nasally, temporally, inferiorly, and superiorly. Submacular corresponding choroidal areas were also computed...
October 1, 2016: Ophthalmic Surgery, Lasers & Imaging Retina
Luis Schiper, Bluma Linkowski Faintuch, Roberto José da Silva Badaró, Erica Aparecida de Oliveira, Victor E Arana Chavez, Elisangela Chinen, Joel Faintuch
OBJECTIVES: Conventional imaging methods are excellent for the morphological characterization of the consequences of osteonecrosis; however, only specialized techniques have been considered useful for obtaining functional information. To explore the affinity of radiotracers for severely devascularized bone, a new mouse model of isolated femur implanted in a subcutaneous abdominal pocket was devised. To maintain animal mobility and longevity, the femur was harvested from syngeneic donors...
October 1, 2016: Clinics
Roberto Hegg, André Mattar, João Nunes de Matos-Neto, José Luiz Pedrini, Sabina Bandeira Aleixo, Roberto Odebrecht Rocha, Renato Peixoto Cramer-Junior, Sylvie van-Eyll-Rocha
OBJECTIVES: To compare the efficacy and safety of two filgrastim formulations for controlling chemotherapy-induced neutropenia and to evaluate the non-inferiority of the test drug relative to the originator. METHODS: This phase III non-inferiority study had a randomized, multicenter, and open-label design. The patients were randomized at a ratio of 1:1 with a follow-up period of 6 weeks for each patient. In both study arms, filgrastim was administered subcutaneously at a daily dose of 5 mg/kg body weight...
October 1, 2016: Clinics
Rebeca Rodrigues Pessoa, Sarah Cueva Cândido Soares de Araújo, Selma Mie Isotani, Rosana Fiorini Puccini, Jacy Perissinoto
Purpose: To assess the development of language regarding the ability to recognize and interpret lexical ambiguity in low-birth-weight schoolchildren enrolled at the school system in the municipality of Embu das Artes, Sao Paulo state, compared with that of schoolchildren with normal birth weight. Methods: A case-control, retrospective, cross-sectional study conducted with 378 schoolchildren, both genders, aged 5 to 9.9 years, from the municipal schools of Embu das Artes...
October 13, 2016: CoDAS
Ademar Francisco de Oliveira, Gêssyca Adryene de Menezes Silva, Débora Milenna Xavier Almeida
Amyotrophic lateral sclerosis is a progressive and fatal neurodegenerative disease characterized by the degeneration of motor neurons, which are the central nervous system cells that control voluntary muscle movements. The excessive salivation (sialorrhea) is present in approximately 50% of amyotrophic lateral sclerosis cases. Thus, some alternative therapeutic methods are sought, such as anticholinergic drugs and surgery. Recently the use of botulinum toxin applied at a midpoint of the salivary glands, often guided by ultrasound, have demonstrated positive results...
July 2016: Einstein
Marina Parca Cavelagna Teixeira, Tatiana Peloso Reis Queiroga, Maria Dos Anjos Mesquita
Objective: To determine the frequency and risk factors of small-for-gestational-age newborns in a high-risk maternity. Methods: This is an observational, cross-sectional, and case-control study, conducted in a public tertiary care maternity hospital. Data from 998 newborns and their mothers were collected through interviews and review of medical records and prenatal care cards. Some placentas underwent histopathological analysis. The variables of small-for-gestational-age and non-small-for-gestational-age newborns and of their mothers were statistically compared by means of Student's t test, Fisher's exact test, and odds ratio...
July 2016: Einstein
Ying Yang, Xiaojing Cheng, Qingzhi Xu, Renjun Li, Zengxun Liu, Liping Wang, Yanqing Zhang, Guoqiang Ren, Jintong Liu
Objective: To evaluate the effect of maintenance modified electroconvulsive therapy (MECT) on schizophrenic patients. Methods: From June 2012 to June 2014, 62 patients with schizophrenia, who had recovered from a successful course of acute MECT, were recruited. Thirty-one patients received maintenance MECT and risperidone, as the experimental group. Another 31 patients were enrolled in the control group, and received risperidone only. The effects on cognitive functions, clinical symptoms and relapse rate were determined...
October 2016: Arquivos de Neuro-psiquiatria
Luciana G Madeira, Renata Lf Passos, Juliana F de Souza, Nilton A Rezende, Luiz O C Rodrigues
Objective: Neurofibromatosis type 1 (NF1) causes neural and cutaneous disorders and reduced exercise capacity. Exercise/heat exposure increasing internal temperature must be compensated by eccrine sweat function and warmed skin vasodilation. We suspected NF1 could adversely affect eccrine sweat function and/or vascular thermoregulatory responses (VTR). Methods: The eccrine sweat function and VTR of 25 NF1 volunteers (14 males, 11 females; 16-57 years old) were compared with 23 non-NF1 controls matched by sex, age, height and weight (CG)...
October 2016: Arquivos de Neuro-psiquiatria
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