Microduplication of Xp11.23p11.3 with effects on cognition,behavior, and craniofacial development

El‐Hattab AW, Bournat J, Eng PA, Wu JBS, Walker BA, Stankiewicz P, Cheung SW, Brown CW. Microduplication of Xp11.23p11.3 with effects on cognition, behavior, and craniofacial development. We report an ～1.3 Mb tandem duplication at Xp11.23p11.3 in an 11‐year‐old boy with pleasant personality, hyperactivity, learning and visual‐spatial difficulties, relative microcephaly, long face, stellate iris pattern, and periorbital fullness. This clinical presentation is milder and distinct from that of patients with partially overlapping Xp11.22p11.23 duplications which have been described in males and females with intellectual disability, language delay, autistic behaviors, and seizures. The duplicated region harbors three known X‐linked mental retardation genes: FTSJ1, ZNF81, and SYN1. Quantitative polymerase chain reaction from whole blood total RNA showed increased expression of three genes located in the duplicated region: EBP, WDR13, and ZNF81. Thus, over‐expression of genes in the interval may contribute to the observed phenotype. Many of the features seen in this patient are present in individuals with Williams‐Beuren syndrome (WBS). Interestingly, the SYN1 gene within the duplicated interval, as well as the STX1A gene, within the WBS critical region, co‐localize to presynaptic active zones, and play important roles in neurotransmitter release.     

Muscle weakness and paresthesia associated with epidural analgesia in a patient with an intrathecal neurofibrolipoma as part of a tethered cord syndrome

We report a case of a 75-yr-old female patient in whom motor deficits and paresthesias occurred after lumbar epidural analgesia. These symptoms were eventually found to be due to a tethered cord syndrome. An epidural catheter was inserted for analgesia after colon surgery. The postoperative course was characterized by fluctuating sensory and motor symptoms. A magnetic resonance imaging scan showed an intraspinal mass, which was removed by laminectomy. The presented complication is of major interest because the intraspinal tumor, which must have been present for years, became acutely symptomatic. Tethered cord syndrome is caused by a limited longitudinal mobility of the cord. It is often seen as a part of spinal closure defects and is also associated with intrathecal tumors. Typically, adult patients complain of weak legs, paresthesias of the legs, and urinary incontinence. However, our patient had denied any muscular or neurological problems or urinary incontinence during the preoperative interview. Postoperative electromyogram and electroneurography ascertained chronic neurogenic lesions of multiple lumbar and sacral nerve roots. Three months after the operation, the patient was able to walk 100 m with a crutch.     

Skin temperature during regional anesthesia of the lower extremity

Increase in skin temperature (Ts) occurs early during neuraxial blocks. However, the reliability of Ts to predict successful peripheral block is unknown. Therefore, we investigated whether an increase in Ts more than 1 degrees C precedes or follows an impairment of sensation after combined femoral and sciatic nerve block as well as after epidural anesthesia. In this prospective, nonrandomized study we determined Ts changes in 33 patients undergoing knee or foot surgery under femoral and sciatic nerve block and 10 patients undergoing epidural anesthesia. Perception and motor function were assessed every 5 min. An increase in Ts (> or =1 degrees C) at the foot occurred later after sciatic nerve block than after epidural anesthesia (10.3 +/- 2.8 versus 5.0 min; P < 0.01). Alterations of Ts at skin innervated by the femoral nerve were <1 degrees C. Ts increase preceded sensory block after sciatic nerve block in 6.6% of patients but indicated a successful block (sensitivity, specificity, and accuracy = 100%). We conclude that an increase of Ts is a reliable, but late, sign of successful sciatic nerve block. Therefore it is of limited clinical value. Ts changes after femoral nerve block are negligible and late.     

Otoacoustic emissions as a screening test for hearing impairment in children

Transient evoked otoacoustic emissions (TEOAEs) are low amplitude sound waves produced by the healthy cochlea. They can be recorded with a microphone in the external ear. TEOAEs are abolished by hearing losses of 30 dB or more. The feasibility of using TEOAEs as a screening test for hearing loss in children was studied. TEOAE recordings were attempted in 56 children attending an audiology clinic. Recordings were possible from both ears in 52 children; of these 104 ears, 32 had hearing deficits of 30 dB or more. Hearing status was compared with the results of six TEOAE screening criteria. All criteria had a sensitivity of 1.00. Four standard TEOAE criteria yielded specificities of 0.46-0.58. Two new criteria derived from analysis of limited frequencies from the TEOAE waveform gave specificities of 0.76 and 0.82. It can be concluded that, when appropriate pass/fail criteria are employed, TEOAEs are a feasible screening test in children.     

Temporal and spatial relations between age specific mortality and ambient air quality in the United States: regression results for counties, 1960-97

Objective: To investigate longitudinal and spatial relations between air pollution and age specific mortality for United States counties (except Alaska) from 1960 to the end of 1997.     

Open vs Laparoscopic Vertical Banded Gastroplasty: A case control study with 1-year follow-up

Background: Vertical Banded Gastroplasty (VBG) is one of the most common bariatric operations. It can be performed by open or laparoscopic methods. The purpose of this study was to analyze and compare the 1-year results of 40 patients who underwent laparoscopic (20) and open (20). Methods: The initial 20 patients undergoing LaparoscopicVBG and the initial 20 patients in whom an Open VBG were performed in our Institution were comparatively evaluated. Demography, surgical details, complications, and 1-year weight loss were analyzed. Results: Both groups were highly comparable in terms of age, sex and body mass index. Laparoscopic VBG was a more prolonged procedure (median 4 hr) than the open VBG (median 3 hr). On the other hand, hospital stay was significantly shorter in the laparoscopic procedure (median 10 days for the open and 6 days for the laparoscopic). One year weight loss and complications were similar in both groups. Conclusions: Laparoscopic VBG is a safe procedure for the treatment of morbid obesity. This initial series shows comparable results.     

A BPA survey of recently appointed consultants

A postal survey of recently appointed consultant paediatricians was undertaken to determine whether they perceived their training had adequately equipped them for their current job. The response rate was 69% (207/299). After excluding replies from consultants trained outside the UK the analysis was carried out on 167 replies. Trainees held a mean 5.2 posts during general and higher professional training, necessitating a mean 1.8 house moves. Altogether 82% felt moves were beneficial to training but 46% found moves 'very disruptive' to family life. Only 12% of district general hospital and 22% of teaching hospital senior registrars took two research sessions a week. Supervision and training in research was absent or poor for more than 60%; 24% felt major changes and 55% moderate changes were needed to current training. Training in non-clinical skills was particularly in demand and a curriculum for both trainers and trainees with regular appraisals is required. Research at senior registrar level needs review and educational methods improved to achieve better training in a shorter period.     

Nonpeptide alphavbeta3 antagonists. Part 11: discovery and preclinical evaluation of potent alphavbeta3 antagonists for the prevention and treatment of osteoporosis

3-(S)-Pyrimidin-5-yl-9-(5,6,7,8-tetrahydro-[1,8]naphthyridin-2-yl)-nonanoic acid (5e) and 3-(S)-(methylpyrimidin-5-yl)-9-(5,6,7,8-tetrahydro-[1,8]naphthyridin-2-yl)-nonanoic acid (5f) were identified as potent and selective antagonists of the alpha(v)beta(3) receptor. These compounds have excellent in vitro profiles (IC(50) = 0.07 and 0.08 nM, respectively), significant unbound fractions in human plasma (6 and 4%), and good pharmacokinetics in rat, dog, and rhesus monkey. On the basis of the efficacy shown in an in vivo model of bone turnover following once-daily oral administration, these two compounds were selected for clinical development for the treatment of osteoporosis.