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Berti-Couto Sde A Couto-Souza PH Jacobs R Nackaerts O Rubira-Bullen IR Westphalen FH Moysés SJ Ignácio SA Costa MB Tolazzi AL 《Journal of applied oral science : revista FOB》2012,20(2):157-161
Objective
The aim of this study was to evaluate the effectiveness of clinical criteria for the diagnosis of hyposalivation in hospitalized patients.Material and Methods
A clinical study was carried out on 145 subjects (48 males; 97 females; aged 20 to 90 years). Each subject was clinically examined, in the morning and in the afternoon, along 1 day. A focused anamnesis allowed identifying symptoms of hyposalivation, like xerostomia complaints (considered as a reference symptom), chewing difficulty, dysphagia and increased frequency of liquid intake. Afterwards, dryness of the mucosa of the cheecks and floor of the mouth, as well as salivary secretion during parotid gland stimulation were assessed during oral examination.Results
Results obtained with Chi-square tests showed that 71 patients (48.9%) presented xerostomia complaints, with a significant correlation with all hyposalivation symptoms (p<0.05). Furthermore, xerostomia was also significantly correlated with all data obtained during oral examination in both periods of evaluation (p<0.05).Conclusion
Clinical diagnosis of hyposalivation in hospitalized patients is feasible and can provide an immediate and appropriate therapy avoiding further problems and improving their quality of life. 相似文献53.
Christina R Maxwell Julia Parish-Morris Olivia Hsin Jennifer C Bush Robert T Schultz 《Journal of Neurodevelopmental Disorders》2013,5(1):25
Background
Broad autism phenotype (BAP) is a milder expression of the social and communication impairments seen in autism spectrum disorders (ASD). While prior studies characterized the BAP in unaffected family members of probands with ASD, the relationship between parental BAP traits and proband symptomatology remains poorly understood. This study utilizes the Broad Autism Phenotype Questionnaire (BAPQ) in parents and the Social Responsiveness Scale (SRS) in children to examine this connection. We hypothesized that in families affected by ASD, elevated maternal and paternal BAPQ scores would correlate with greater autism symptomatology in diagnosed children. In an extension of prior research, we also explored this relationship in families with typically developing children (TDC).Methods
Two hundred and forty-five children with ASD, 129 TDC and all parents were recruited as part of a larger study investigating relationships between genes, brain and behavior. The Autism Diagnostic Interview-Revised (ADI-R), Autism Diagnostic Observation Schedule (ADOS) and expert clinical judgment confirmed ASD diagnoses in children. SRS was collected for all children. Parents completed a self-report BAPQ and an informant report BAPQ for their spouse; an average of self-report and informant report for each parent was used in all analyses.Results
Mothers and fathers of children with ASD had significantly higher rates of BAP traits as compared to parents of TDC. Maternal and paternal BAPQ total scores were not correlated with child IQ in either group. In the ASD group, 10% of mothers and 21% of fathers scored above the established BAP threshold compared to 4% of TDC parents. Crude regression analyses showed that maternal and paternal BAPQ total scores accounted for significant variance in child SRS scores in both ASD (17.1%) and TDC (19.8%) families.Conclusions
Our results suggest that broad autism symptomatology in parents is moderately associated with their child’s autism symptomatology. This result extended to TDC families, suggesting that the BAPQ and SRS capture subtle, subclinical social variation in both children and adults. These findings could help define multi-generational social impairments in future phenotypic and genetic studies. 相似文献54.
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Olivia Boyer Stéphanie Woerner Fan Yang Edward J. Oakeley Bolan Linghu Olivier Gribouval Marie-Josèphe Tête José S. Duca Lloyd Klickstein Amy J. Damask Joseph D. Szustakowski Fran?oise Heibel Marie Matignon Véronique Baudouin Fran?ois Chantrel Jacqueline Champigneulle Laurent Martin Patrick Nitschké Marie-Claire Gubler Keith J. Johnson Salah-Dine Chibout Corinne Antignac 《Journal of the American Society of Nephrology : JASN》2013,24(8):1216-1222
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Marie-Pierre Audrézet Christine Corbiere Said Lebbah Vincent Morinière Fran?oise Broux Ferielle Louillet Michel Fischbach Ariane Zaloszyc Sylvie Cloarec Elodie Merieau Véronique Baudouin Georges Deschênes Gwenaelle Roussey Sandrine Maestri Chiara Visconti Olivia Boyer Carine Abel Annie Lahoche Hanitra Randrianaivo Lucie Bessenay Djalila Mekahli Ines Ouertani Stéphane Decramer Amélie Ryckenwaert Emilie Cornec-Le Gall Rémi Salomon Claude Ferec Laurence Heidet 《Journal of the American Society of Nephrology : JASN》2016,27(3):722-729
Prenatal forms of autosomal dominant polycystic kidney disease (ADPKD) are rare but can be recurrent in some families, suggesting a common genetic modifying background. Few patients have been reported carrying, in addition to the familial mutation, variation(s) in polycystic kidney disease 1 (PKD1) or HNF1 homeobox B (HNF1B), inherited from the unaffected parent, or biallelic polycystic kidney and hepatic disease 1 (PKHD1) mutations. To assess the frequency of additional variations in PKD1, PKD2, HNF1B, and PKHD1 associated with the familial PKD mutation in early ADPKD, these four genes were screened in 42 patients with early ADPKD in 41 families. Two patients were associated with de novo PKD1 mutations. Forty patients occurred in 39 families with known ADPKD and were associated with PKD1 mutation in 36 families and with PKD2 mutation in two families (no mutation identified in one family). Additional PKD variation(s) (inherited from the unaffected parent when tested) were identified in 15 of 42 patients (37.2%), whereas these variations were observed in 25 of 174 (14.4%, P=0.001) patients with adult ADPKD. No HNF1B variations or PKHD1 biallelic mutations were identified. These results suggest that, at least in some patients, the severity of the cystic disease is inversely correlated with the level of polycystin 1 function. 相似文献