Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: Report of novel pathogenic copy number variants

Obesity is a major threat to public health worldwide, and there is now mounting evidence favoring a role for the central nervous system (CNS) in weight control. A causal relationship has been recognized in both monogenic (e.g., BDNF, TRKB, and SIM1 deficiencies) and syndromic forms of obesity [e.g., Prader–Willi syndrome (PWS)]. Syndromic obesity arising from chromosomal abnormalities, that typically also affect learning and development, are often associated with congenital malformations and behavioral characteristics. We report on nine unrelated patients with a diagnosis of learning disability and/or developmental delay (DD) in addition to obesity that were found to have copy number variants (CNVs) by single nucleotide polymorphism array‐based analysis. Each patient also had a distinct and complex phenotype, and most had hypotonia and other neuroendocrine issues, such as hyperphagia and hypogonadism. Molecular and clinical characterization of these patients enabled us to determine with confidence that the CNVs we observed were pathogenic or likely to be pathogenic. Overall, the CNVs reported here encompassed a candidate gene or region (e.g., SIM1) that has been reported in patients associating obesity and DD and/or intellectual disability (ID) and novel candidate genes and regions. © 2013 Wiley Periodicals, Inc.     

Genetic study of common variants at the Apo E,Apo AI,Apo CIII,Apo B,lipoprotein lipase (LPL) and hepatic lipase (LIPC) genes and coronary artery disease (CAD): variation in LIPC gene associates with clinical outcomes in patients with established CAD

Background  

Current evidence demonstrates that positive family history and several alterations in lipid metabolism are all important risk factors for coronary artery disease (CAD). All lipid abnormalities themselves have genetic determinants. Thus, objective of this study was to determine whether 6 genetic variants potentially related to altered lipid metabolism were associated with CAD and with lipid abnormalities in an Italian population. These genetic variables were: apolipoprotein E (Apo E), Apo AI, Apo CIII, Apo B, lipoprotein lipase (LPL) and the hepatic lipase (LIPC) genes. Furthermore, an 8 years prospective analysis of clinical cardiovascular events was related to the various genetic markers.     

Use of visual information in the correction of interceptive actions

Use of visual information in interceptive actions requiring large-scale changes to movement timing was investigated. The task consisted of intercepting a moving target on a monitor screen through an angular arm movement. In half of the trials, the initial target velocity of 8 cm/s was unexpectedly decreased to 4 cm/s or increased to 12 cm/s, leaving 800 ms to target arrival after velocity change. Visual information about target displacement was manipulated by interpolating full vision with occlusion of the last 200, 400, or 600 ms before the due time of interception. The results revealed that reduction of visual exposure of target displacement affected movement variability, but not arm velocity or directional trend of temporal errors. This finding supports the concept that motor control in interception is based on an internal representation of target displacement, formed during the initial portion of visual exposure following velocity change, which is updated by further visual information of target displacement.     

Stepwise Laparoscopic Myomectomy and the Baseball Closure

Study ObjectiveTo demonstrate the importance of planning all the steps of laparoscopic myomectomy, including incision, techniques to reduce blood loss, and suturing.DesignStep-by-step video demonstration of the technique, with narration in the background. The video was approved by the local institutional review board.SettingLive surgery at Hospital PIO XII, Institute for Research into Cancer of the Digestive System and American Institute of Telesurgery, Barretos.InterventionsWe describe a case of a 33-year-old woman with no pregnancy and diagnosed with endometriosis and chronic pelvic pain associated with a 5-cm posterior transmural myoma. We performed a laparoscopic myomectomy, with temporary clipping of the uterine arteries associated with the treatment of endometriosis lesions. Specimen extraction was performed inside a bag [1]. The patient was discharged the next day with no complications. Ten months after the procedure, the patient reported that there was no pain, and that her menses were normal.ConclusionThe laparoscopic approach remains the gold standard for myomectomy [2]. Planning the steps before execution is fundamentally important to ensure the security of the procedure. A seromuscularis baseball suture associated with figure-of-8 knotting with an H3H2 sequence at the internal layers seems to be an adequate technique for myometrium closure [3]. Choosing the correct angle for the incision, clipping the uterine artery, and developing the suture in 2 layers results in less bleeding, reduced operating time, decrease in hospital length of stay, and fewer complications.     

Propofol-ketamine versus propofol-fentanyl for outpatient laparoscopy: comparison of postoperative nausea,emesis, analgesia,and recovery

STUDY OBJECTIVE: To compare postoperative nausea, emesis, analgesia, and recovery between propofol-ketamine and propofol-fentanyl in outpatient laparoscopic tubal ligations with general anesthesia. STUDY DESIGN: Prospective, randomized, blinded study. SETTING: Tertiary-care women's hospital. PATIENTS: 120 ASA physical status I and II ambulatory patients scheduled for elective laparoscopic tubal ligation. INTERVENTIONS: Patients were randomized to two groups to receive either ketamine (1-1.5 mg/kg) or fentanyl (3-5 microg/kg). MEASUREMENTS: Measured variables included total dose of ketamine, fentanyl, propofol, and operating time. Vital signs, pain visual analog scale scores (VAS), nausea VAS, presence of emesis, treatment for nausea and vomiting, pruritus, sedation, and presence of dreaming were recorded on postanesthesia care unit (PACU) admission, PACU discharge, stepdown unit admission, and hospital discharge. Results are expressed as means +/- SD or medians and analyzed using t-test, Chi-square, or Mann-Whitney (p < 0.05). MAIN RESULTS: No differences were noted with respect to propofol dose, operating times, pain or nausea VAS scores, emesis, treatment for nausea and vomiting, pruritus, and sedation on PACU admission, PACU discharge, stepdown unit admission, and hospital discharge. The ketamine group had a higher heart rate, required more pain medication, and had a higher frequency of dreaming on PACU admission than the fentanyl group. These differences became insignificant on PACU discharge. CONCLUSIONS: For outpatient laparoscopic tubal ligations with general anesthesia, propofol-ketamine does not improve postoperative nausea, emesis, analgesia or recovery compared with the propofol-fentanyl combination.     

Influence of alcohol consumption on immunological status: a review

The aim of this review is to present and discuss the effect of different levels of alcohol consumption on the immune system. Not only the amount consumed but also the type of alcoholic beverage have to be taken into account in order to determine the consequences on activity, number, distribution, balance, interaction and response of immunocompetent cells. The association between alcohol exposure and the risk of developing an alcohol-related disease is multifactorial. In fact, age, gender, smoking habits, dietary intake and exercise are involved among other factors. The evaluation of the host cellular and humoral immune responses has shown that alcohol may induce some benefits when consumption is moderate. Moreover, those alcoholic beverages that contain antioxidants, such as red wine, could be protectors against immune cell damage. According to the literature consulted, the daily consumption of 10-12 g and 20-24 g of alcohol for women and men, respectively, is considered to be a moderate intake; the type of beverage has been established not to be important when defining moderation. Particular attention is often focused on the U- or J-shaped curve which also suggests that light to moderate drinking produces a protective effect. Such an inverse relationship indicates a reduction of risk for both light and moderate consumers and a higher risk not only for hard drinkers, but also for non-consumers.     

AQP1 in red blood cells of uremic patients during hemodialytic treatment

Hemodialysis influences the transport of water through the erythrocytic membrane, and induces morphologic and functional modifications. Recently water channels, called aquaporins (AQP), have been identified on the membrane of red blood cells. The aim of the present study was, therefore, to evaluate any relationships between volumetric changes in erythrocytes (MCV), plasma osmolarity and membrane expression of AQP1 in 22 uremic patients during a hemodialysis session, and compare value with those in a control group of 22 healthy volunteers. Membranal AQP1 expression was evaluated using three methods: indirect immunofluorescence under confocal microscopy, immunoenzymatic method after membrane extraction, and immunoblotting. In uremic subjects, at baseline membrane AQP1 expression was significantly lower, whereas plasma osmolality was higher than in controls. At 1 and 2 h of replacement therapy, a progressive increase was observed in erythrocytic AQP1, values similar to those in controls being attained after 3.5 h. During the session osmolality values reduced progressively, becoming significantly lower than basal values. The mean erythrocytic corpuscular volume in patients with ESRD was significantly lower than in cntrols at baseline. This value increased during hemodialysis, attaining statistical significance with respect to the basal value at 3.5 h of dialysis. Close correlations were found between plasma osmolality and AQP1 values (r = -0.930; p < 0.05), and also between MCV and plasma osmolality trend (r = -0.909; p < 0.05). There was a linear correlation (r = 0.63, p < 0.05) between plasma AVP concentrations and plasma osmolality. The variations found in plasma osmolarity during hemodialysis, may induce AQP1 expression on the membrane of intact red blood cells.