First HPSE2 missense mutation in urofacial syndrome.

Urofacial syndrome (UFS) describes the combination of urological problems and an inverted facial expression upon attempts to smile. Seventeen independent familial cases from different ethnicities have been described so far. Some of these have been linked to chromosome 10q. Very recently, homozygous loss-of-function mutations affecting the gene HPSE2 were identified in nine cases. Here, we describe a consanguineous UFS family from Pakistan with three of six siblings affected. We establish linkage to the chromosome 10q critical region and identify two non-synonymous HPSE2 variants. In silico analysis and screening of controls defines c.631T>C (p.Y211H) as a novel benign SNP and c.1628A>T (p.N543I) as the disease-causing mutation. Our study exemplifies the challenges in proper clinical diagnosis of UFS and, thereby, supports the hypothesis of the disease being under diagnosed. By identifying the first HPSE2 missense mutation it also provides a starting point for studies aimed at functionally understanding the unusual combination of symptoms as characterizing UFS.

Shear Capacity of C-Shaped and L-Shaped Angle Shear Connectors.

This paper investigates the behaviour of C-shaped and L-shaped angle shear connectors embedded in solid concrete slabs. An effective finite element model is proposed to simulate the push out tests of these shear connectors that encompass nonlinear material behaviour, large displacement and damage plasticity. The finite element models are validated against test results. Parametric studies using this nonlinear model are performed to investigate the variations in concrete strength and connector dimensions. The finite element analyses also confirm the test results that increasing the length of shear connector increases their shear strength proportionately. It is observed that the maximum stress in L-shaped angle connectors takes place in the weld attachment to the beam, whereas in the C-shaped angle connectors, it is in the attached leg. The location of maximum concrete compressive damage is rendered in each case. Finally, a new equation for prediction of the shear capacity of C-shaped angle connectors is proposed.

A randomised controlled trial comparing transvaginal ultrasound, outpatient hysteroscopy and endometrial biopsy with inpatient hysteroscopy and curettage.

OBJECTIVE: To compare the use of outpatient and inpatient procedures in the investigation of abnormal uterine bleeding. DESIGN: A randomised controlled trial. SETTING: Two university teaching hospitals. PARTICIPANTS: Four hundred women with abnormal uterine bleeding (postmenopausal bleeding, menorrhagia, intermenstrual bleeding, postcoital bleeding, or irregular periods) above the age of 35 years, between June 1993 and January 1995. MAIN OUTCOME MEASURES: 1. Incidence of detection of abnormal pathology by vaginal ultrasound, outpatient hysteroscopy and endometrial biopsy compared with inpatient hysteroscopy and curettage; 2. Number of 'lesions' (e.g. fibroids, polyps, endometrial hyperplasia or malignancy) found by hysteroscopy that would have been missed by the combination of endometrial sampling and ultrasound; 3. Comparison of the quality of tissue obtained for histology by outpatient endometrial sampling and inpatient curettage; and 4. An evaluation of patient acceptability of outpatient and inpatient procedures. RESULTS: 1. A combination of transvaginal sonography, Pipelle endometrial biopsy and outpatient hysteroscopy has similar efficacy to inpatient hysteroscopy and curettage for the investigation of abnormal uterine bleeding; 2. Hysteroscopy will detect some fibroids and polyps missed by a combination of transvaginal ultrasound and Pipelle endometrial sampling; 3. The quality of histological samples obtained by outpatient Pipelle were comparable to those obtained by formal inpatient curettage; and 4. Outpatient procedures were well tolerated, with good patient acceptability. CONCLUSION: Transvaginal sonography and endometrial biopsy can safely be used as the initial investigations in the management of abnormal uterine bleeding. Hysteroscopy can be used as a second line investigation. Outpatient hysteroscopy with local anaesthesia is well tolerated although general anesthesia may occasionally be necessary.