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31.
Hermine A van Duyvenvoorde Julian C Lui Sarina G Kant Wilma Oostdijk Antoinet CJ Gijsbers Mari?tte JV Hoffer Marcel Karperien Marie JE Walenkamp Cees Noordam Paul G Voorhoeve Verónica Mericq Alberto M Pereira Hedi L Claahsen-van de Grinten Sandy A van Gool Martijn H Breuning Monique Losekoot Jeffrey Baron Claudia AL Ruivenkamp Jan M Wit 《European journal of human genetics : EJHG》2014,22(5):602-609
Height is a highly heritable and classic polygenic trait. Recent genome-wide association studies (GWAS) have revealed that at least 180 genetic variants influence adult height. However, these variants explain only about 10% of the phenotypic variation in height. Genetic analysis of short individuals can lead to the discovery of novel rare gene defects with a large effect on growth. In an effort to identify novel genes associated with short stature, genome-wide analysis for copy number variants (CNVs), using single-nucleotide polymorphism arrays, in 162 patients (149 families) with short stature was performed. Segregation analysis was performed if possible, and genes in CNVs were compared with information from GWAS, gene expression in rodents'' growth plates and published information. CNVs were detected in 40 families. In six families, a known cause of short stature was found (SHOX deletion or duplication, IGF1R deletion), in two combined with a de novo potentially pathogenic CNV. Thirty-three families had one or more potentially pathogenic CNVs (n=40). In 24 of these families, segregation analysis could be performed, identifying three de novo CNVs and nine CNVs segregating with short stature. Four were located near loci associated with height in GWAS (ADAMTS17, TULP4, PRKG2/BMP3 and PAPPA). Besides six CNVs known to be causative for short stature, 40 CNVs with possible pathogenicity were identified. Segregation studies and bioinformatics analysis suggested various potential candidate genes. 相似文献
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33.
Maria das Gra?as WS Coriolano Luciana R Belo Danielle Carneiro Amdore G Asano Paulo José AL Oliveira Douglas Monteiro da Silva Otávio G Lins 《Dysphagia》2012,27(4):550-555
Our goal was to study deglutition of Parkinson??s disease (PD) patients and normal controls (NC) using surface electromyography (sEMG). The study included 15 patients with idiopathic PD and 15 age-matched normal controls. Surface electromyography was collected over the suprahyoid muscle group. Conditions were the following: swallow at once 10 and 20?ml of water and 5 and 10?ml of yogurt of firm consistency, and freely drink 100?ml of water. During swallowing, durations of sEMG were significantly longer in PD patients than in normal controls but no significant differences of amplitudes were found. Eighty percent of the PD patients and 20?% of the NC needed more than one swallow to consume 20?ml of water, while 70?% of the PD patients and none of the NC needed more than one swallow to consume 5?ml of yogurt. PD patients took significantly more time and needed significantly more swallows to drink 100?ml of water than normal controls. We conclude that sEMG might be a simple and useful tool to study and monitor deglutition in PD patients. 相似文献
34.
GEMMA PELARGONIO MARIA L. NARDUCCI ELEONORA RUSSO MICHELA CASELLA PASQUALE SANTANGELI ROBERT CANBY AMIN AL‐AHMAD LARRY D. PRICE LUIGI DI BIASE CANDICE J. KWARK MARK HARWOOD FRANCESCO PERNA GIANLUIGI BENCARDINO CAROLINA IERARDI ENRICO M. TRECARICHI ENRICA SANTELLI MARIO TUMBARELLO PRASANT MOHANTY SHANE BAILEY JOHN DAVID BURKHARDT FULVIO BELLOCCI ANDREA NATALE ANTONIO DELLO RUSSO 《Journal of cardiovascular electrophysiology》2012,23(10):1103-1108
Transvenous Lead Extraction . Introduction: As the population ages, the number of elderly patients with implantable cardiac devices referred for transvenous lead extraction will dramatically increase in Western countries. The safety and effectiveness of lead extraction in elderly patients has not been well evaluated. We report the safety and effectiveness of transvenous lead extraction in octogenarians. Methods and Results: From January 2005 to January 2011, we reviewed data from consecutive patients ≥ 80 years referred to our institutions for transvenous lead extraction because of cardiac device infection or lead malfunction. Clinical characteristics, procedural features, and periprocedural major and minor complications were compared between octogenarians and younger patients. Out of 849 patients undergoing lead extraction in the participating institutions during the study period, 150 (18%) patients were octogenarians (mean age 84 years; range 80–96; 64% males). A significantly higher percentage of octogenarians presented with chronic renal failure (55% vs 26%; P < 0.001), history of malignancy (22% vs 6%; P < 0.001), and chronic obstructive pulmonary disease (46% vs 19%; P < 0.001). Complete lead extraction rates were similar in the 2 age groups (97% in octogenarians vs 96% in patients <80 years; P = 0.39). Periprocedural death occurred in 2 (1.3%) patients ≥80 years and in 5 (0.72%) patients <80 years (P = 0.45 for comparison). No differences in terms of other periprocedural major and minor complications were found between the 2 age groups. Conclusion: Despite presenting with a significantly higher rate of comorbidities, transvenous lead extraction can be performed safely and successfully in octogenarians. (J Cardiovasc Electrophysiol, Vol. 23 pp. 1103‐1108, October 2012) 相似文献
35.
Percutaneous balloon aortic valvotomy was attempted in six consecutiveadolescents and young adults, (meanage 18 ± 5 years),with severe congenital aortic valvular stenosis. Peak systolicaortic valve gradient measurement and aortography was performedbefore and immediately after valvotomy, and a 16 monthsfollow-up. The single-balloon technique was used in two patientsand the double-balloon technique in four patients. After balloonvalvotomy the mean peak systolic aortic valve gradient (PSG)decreased from 122 ± 53 to 43 ± 20 mmHg (P >001). The haemodynamic improvement persisted at follow-up (PSG= 47 ±31 mmHg), except in one patient who had previouslyundergone aortic surgical valvotomy. One balloon valvotomy wasunsuccessful, presumably because of the selection of an inappropriatelysmall balloon. Two patients with critical aortic stenosis (PSG>165mmHg), who exhibited a thick aortic valve on echocardiographywith a relatively small aortic root and annulus, had a dramaticreduction in PSG. However, the degree of aortic regurgitationincreased significantly in both cases. The theoretical haemodynamicadvantage of the double versus the single balloon techniqueswas confirmed in one patient. We have demonstrated that percutaneousballoon aortic valvotomy using either the single- or double-balloontechnique is feasible in young adults with severe congenitalaortic stenosis. Further studies are required both to defineappropriate patients and the selection of balloon diameter andlength. 相似文献
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Yousra H. AL JAZAIRY Hassan Suliman HALAWANY Nawaf AL HUSSAINAN Nassr AL MAFLEHI Nimmi Biju ABRAHAM Vimal JACOB 《Industrial health》2014,52(4):324-333
A disparity exists in the educational qualifications of dental assistants working in
various public and private institutions in Riyadh, Saudi Arabia. The aim of this study was
to assess the influence of professional and personal characteristics on job satisfaction
among dental assistants. A cross-sectional survey was performed among dental assistants
using a 24-item self-administered questionnaire. Multinomial logistic regression was used
to assess the relationship between overall job satisfaction and other variables. The
overall response rate was 72.1%. Factor analysis suggested that five underlying factors
were related to job satisfaction. The mean score for overall job satisfaction was 3.86
(satisfied) out of 5. Among the work environment factors, the highest mean score, 4.26
(satisfied), was obtained for quality of service, and the lowest mean score, 2.78
(neutral), was obtained for the perception of income. The income and general prospects of
the profession was significantly associated with overall job satisfaction. This study
suggests that for dental assistants, professional and personal life, quality of service,
perception of income and prestige and self-respect are important factors for job
satisfaction. Despite differences in professional formation standards, in general, the
study participants were considerably satisfied with their jobs. 相似文献
38.
Iman Amy Betawi Sinaria Kamil Abdel Jabbar Mohammad. A. AL Jabery Haidar Ibrahim Zaza Muhannad Al-Shboul 《Early child development and care》2014,184(12):1992-2003
This study examined fathers' perceptions regarding their home-based activities (HBA) and the influence of fathers' demographic characteristics on their perceptions and practices at home. A total of 396 fathers completed a survey questionnaire describing their demographic information, perceptions and their practices regarding their involvement in HBA. Results indicated that fathers have moderate level of practice concerning their HBA, yet they have low perception of their actual practice at HBA. In addition, there was a statistical significance in HBA due to fathers' age, educational level and specialisation which had an influence on their perceptions as well. Recommendations and implications of future research were discussed. 相似文献
39.
Danielle Carpenter Carmen Taype Jon Goulding Mike Levin Brian Eley Suzanne Anderson Marie-Anne Shaw John AL Armour 《BMC medical genetics》2014,15(1):1-8
Background
22q11.2 deletion syndrome (22q11.2DS) is a common microdeletion syndrome, which occurs in approximately 1:4000 births. Familial autosomal dominant recurrence of the syndrome is detected in about 8-28% of the cases. Aim of this study is to evaluate the intergenerational and intrafamilial phenotypic variability in a cohort of familial cases carrying a 22q11.2 deletion.Methods
Thirty-two 22q11.2DS subjects among 26 families were enrolled.Results
Second generation subjects showed a significantly higher number of features than their transmitting parents (212 vs 129, P?=?0.0015). Congenital heart defect, calcium-phosphorus metabolism abnormalities, developmental and speech delay were more represented in the second generation (P?<?0.05). Ocular disorders were more frequent in the parent group. No significant difference was observed for the other clinical variables. Intrafamilial phenotypic heterogeneity was identified in the pedigrees. In 23/32 families, a higher number of features were found in individuals from the second generation and a more severe phenotype was observed in almost all of them, indicating the worsening of the phenotype over generations. Both genetic and epigenetic mechanisms may be involved in the phenotypic variability.Conclusions
Second generation subjects showed a more complex phenotype in comparison to those from the first generation. Both ascertainment bias related to patient selection or to the low rate of reproductive fitness of adults with a more severe phenotype, and several not well defined molecular mechanism, could explain intergenerational and intrafamilial phenotypic variability in this syndrome. 相似文献40.