Rejection sensitivity and multiple group memberships: The moderating role of an oxytocin receptor gene polymorphism

Rejection sensitivity is a cognitive-affective processing disposition that has been linked to interpersonal difficulties. In this regard, the neuropeptide hormone, oxytocin, is thought to underlie social cognitions and behaviors that promote social affiliation. A single nucleotide polymorphism (SNP) on the oxytocin receptor gene (OXTR), in which guanine (G) is substituted for adenine (A), has been associated with less support-seeking behaviors. In the current study, among 376 undergraduate students, it was shown that the relationship between rejection sensitivity and depressive symptoms was mediated by multiple group memberships. Furthermore, the relation between rejection sensitivity and group memberships was only evident among individuals possessing the A allele on the OXTR gene. These findings further support the psychosocial deficits characteristic of individuals possessing the OXTR polymorphism, which in turn is linked to poor mood.     

Interaction between blood type,smoking and factor V Leiden mutation and risk of venous thromboembolism: a Danish case‐cohort study

See also Lowe GDO. Epidemiology of venous thromboembolism: the need for large (including prospective) studies and meta‐analyses. This issue, pp 2186–8 and Rosendaal FR. Etiology of venous thrombosis: the need for small original studies. This issue, pp 2189–90.     

Percutaneous nephrolithotripsy under assisted local anaesthesia for high risk patients: Is it effective?

ObjectivesThe aim of the present study is to evaluate the feasibility and safety of performing PNL under local anesthesia in a selected group of patients who are at high risk for general anesthesia.Patients and methodsForty seven patients underwent PNL under local anesthesia. There were 38 males and 9 females with a mean age of 62 years. All patients were at medical high-risk for general anesthesia, with an American Society of Anesthesiologists (ASA) score of 3. The indications for local anesthesia in this study were obstructed single functioning kidney with azotemia in 29 patients, hepatic insufficiency in 8 patients, cardiac problems in 7 patients and 3 patients had hepatocellular carcinoma. The mean stone size was 2.7 cm (range 2–3.1 cm). Local infiltration with 10–20 cc of 2% lidocaine at the site of puncture was used in all cases. Narcotics were given 30 min prior to the procedure and medazolam was given intraoperatively upon demand. Utrasound guided puncture was performed in all cases and tract dilatation was then done under fluoroscopy using high pressure balloon catheter in 35 and Alken's metal dilators in 12 cases. Stones were then retrieved after disintegration in the same cession in 33 patients, while the other 14 patients underwent staged PNL, where a 12 Fr. nephrostomy tube was placed in the first stage, followed by tract dilatation and stone retrieval one week later.ResultsOut of 47 patients included, 44 had successful PNL either one stage (30 patients) or two stages (14 patients). Only 3 patients could not tolerate pain and the procedure was terminated after placement of nephrostomy tube and stone retrieval was completed later under general anesthesia.ConclusionOur results demonstrated that PNL under local anesthesia with narcotics and sedatives seems to be a satisfying solution for the treatment of a selected group of patients with renal pelvic stones and who have high anesthetic risk. However, additional studies with different groups of patients are required to validate our results.     

Resilient liner vs. clip attachment effect on peri‐implant tissues of bar‐implant‐retained mandibular overdenture: a 1‐year clinical and radiographical study

Purpose: The aim of this study was to compare between the effects of resilient liner and clip attachments of bar‐implant‐retained mandibular overdenture on peri‐implant tissues. Materials and methods: In a randomized‐controlled clinical trial, 30 edentulous male patients (mean age 62.5 years) were equally assigned to two groups. In each patient, two implants were inserted in the canine area of the mandible using a two‐stage surgical protocol. After 3 months, the implants were connected with resilient bars. Mandibular overdentures were retained to the bars with either clips (group I) or silicone‐resilient liners (group II). Peri‐implant tissues were evaluated clinically (with regard to plaque scores, gingival scores and probing depths) and radiographically (with regard to peri‐implant vertical and horizontal alveolar bone changes). Evaluations were performed at the time of overdenture insertion (T0), 6 months (T6) and 12 months (T12) after overdenture insertion. Results: After 12 months of using bar‐implant‐retained mandibular overdenture, the resilient liner attachment had significantly decreased peri‐implant plaque score, gingival score, probing depth, vertical and horizontal bone loss when compared with the clip attachment. Conclusion: Within the limitations of this study, and in terms of peri‐implant tissue health of bar‐implant‐retained mandibular overdenture, we recommend resilient liner rather than clip attachment. To cite this article:
Elsyad MA, EL Shoukouki AH. Resilient liner vs. clip attachment effect on peri‐implant tissues of bar‐implant‐retained mandibular overdenture: a 1‐year clinical and radiographical study.
Clin. Oral Impl. Res. 21 , 2010; 473–480
doi: 10.1111/j.1600‐0501.2009.01879.x     

EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders

Different mutations occurring in the unstable CGG repeat in 5'' untranslated region of FMR1 gene are responsible for three fragile X-associated disorders. An expansion of over ∼200 CGG repeats when associated with abnormal methylation and inactivation of the promoter is the mutation termed ‘full mutation'' and is responsible for fragile X syndrome (FXS), a neurodevelopmental disorder described as the most common cause of inherited intellectual impairment. The term ‘abnormal methylation'' is used here to distinguish the DNA methylation induced by the expanded repeat from the ‘normal methylation'' occurring on the inactive X chromosomes in females with normal, premutation, and full mutation alleles. All male and roughly half of the female full mutation carriers have FXS. Another anomaly termed ‘premutation'' is characterized by the presence of 55 to ∼200 CGGs without abnormal methylation, and is the cause of two other diseases with incomplete penetrance. One is fragile X-associated primary ovarian insufficiency (FXPOI), which is characterized by a large spectrum of ovarian dysfunction phenotypes and possible early menopause as the end stage. The other is fragile X-associated tremor/ataxia syndrome (FXTAS), which is a late onset neurodegenerative disorder affecting males and females. Because of the particular pattern and transmission of the CGG repeat, appropriate molecular testing and reporting is very important for the optimal genetic counselling in the three fragile X-associated disorders. Here, we describe best practice guidelines for genetic analysis and reporting in FXS, FXPOI, and FXTAS, including carrier and prenatal testing.     

Further delineation of the KBG syndrome caused by ANKRD11 aberrations

Loss-of-function variants in ANKRD11 were identified as the cause of KBG syndrome, an autosomal dominant syndrome with specific dental, neurobehavioural, craniofacial and skeletal anomalies. We present the largest cohort of KBG syndrome cases confirmed by ANKRD11 variants reported so far, consisting of 20 patients from 13 families. Sixteen patients were molecularly diagnosed by Sanger sequencing of ANKRD11, one familial case and three sporadic patients were diagnosed through whole-exome sequencing and one patient was identified through genomewide array analysis. All patients were evaluated by a clinical geneticist. Detailed orofacial phenotyping, including orthodontic evaluation, intra-oral photographs and orthopantomograms, was performed in 10 patients and revealed besides the hallmark feature of macrodontia of central upper incisors, several additional dental anomalies as oligodontia, talon cusps and macrodontia of other teeth. Three-dimensional (3D) stereophotogrammetry was performed in 14 patients and 3D analysis of patients compared with controls showed consistent facial dysmorphisms comprising a bulbous nasal tip, upturned nose with a broad base and a round or triangular face. Many patients exhibited neurobehavioural problems, such as autism spectrum disorder or hyperactivity. One-third of patients presented with (conductive) hearing loss. Congenital heart defects, velopharyngeal insufficiency and hip anomalies were less frequent. On the basis of our observations, we recommend cardiac assessment in children and regular hearing tests in all individuals with a molecular diagnosis of KBG syndrome. As ANKRD11 is a relatively common gene in which sequence variants have been identified in individuals with neurodevelopmental disorders, it seems an important contributor to the aetiology of both sporadic and familial cases.