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.     

Effects of 980-nm diode laser on the ultrastructure and fracture resistance of dentine

Few reports have addressed the effects of diode laser irradiation at 980 nm on the morphology and fracture resistance of dentine. The purpose of this study is to evaluate the effects of 980-nm diode laser on the ultrastructure and fracture resistance of root dentine. The roots of 90 extracted canine teeth were divided into three groups according to the type of irrigating solution (water, NaOCl, and NaOCl/EDTA) and subdivided into three subgroups (n?=?10) according to the amount of laser irradiation (without irradiation, 1.5 W/100 Hz and 3.0 W/100 Hz). The roots were filled with an epoxy resin-based sealer and gutta-percha and then subjected to a fracture resistance test. Data were analyzed by ANOVA and the Tukey test (p?<?0.05). Additionally, 18 canine teeth were prepared using the same irrigation/irradiation protocols and evaluated by scanning electron microscopy (SEM). The SEM showed greater changes when the laser power increased, and the changes also varied according to the irrigating solution. A modified smear layer was observed in specimens that were treated with water and then laser-irradiated. The laser treatment did not alter the fracture resistance of roots treated with 1.5 W/100 Hz (246.3?±?29.5 N) and 3.0 W/100 Hz (215.3?±?25.1 N) laser power. The roots treated with NaOCl were more susceptible to fracture (199.4?±?15.1 N) than those irrigated with water (254.2?±?23.0 N) (p?<?0.05). The 980-nm diode laser altered the morphology of the dentine but did not affect the fracture resistance of the roots.     

Cardiovascular disease in asthma and COPD: a population-based retrospective cross-sectional study

We conducted a large population-based retrospective cross-sectional study for determining the extent of clinically recognized chronic obstructive pulmonary disease (COPD) and asthma, and the prevalence of associated cardiovascular diseases (CVDs), using information obtained from the Health Search Database (HSD) owned by the Italian College of General Practitioners (SIMG). Our study provides further evidence that patients with the diagnosis of COPD are at increased association with the diagnosis of most CVDs. It also documents that age clusters between 35 and 54 years are those at highest association of simultaneous presence of the diagnosis of CVD and that of COPD, with a progressive significant reduction in older age clusters. Moreover, it shows that the diagnosis of asthma is modestly associated with the diagnosis of different CV morbidities.     

Videocapillaroscopy study of post traumatic lower limb loss of tissue treated with and without acellular dermal substitute

A 46 years old male with a post traumatic loss of tissue localized on the anterior surface of the right thigh and knee due to a road accident, was treated with different surgical reconstructive techniques. Combined use of autologous skin graft and acellular dermal substitute Integra? allowed the satisfactory recovery of the patient who was discharged after 82 days from the trauma. To analyse the characteristics and the quality of the healing tissues we performed a videocapillaroscopy study to assess the microcirculatory pattern of the autologous skin grafted on the dermal substitute in comparison with the autologous skin grafted on granulation tissue. The videocapillaroscopy was performed in the zone skin grafted directly on granulation tissue, Zone 1 (Z1); on the region of the lesion in the knee, treated with dermal substitute and autologous skin graft, Zone 2 (Z2), and on the undamaged controlateral knee skin. Zone 3 (Z3). The results showed that the capillary density was similar between Z2 and Z3, while in Z1, the zone skin grafted on the granulation tissue without Integra? the capillary density was significatively reduced. These preliminary observations within the clinical data may be an useful contribute to better understand the tissue healing process.     

Outcome prognostic factors in inoperable malignant bowel obstruction

Purpose

Inoperable malignant bowel obstruction (MBO), a severe complication of peritoneal carcinomatosis, has a low desobstruction rate (30–40 %) and end-of-life decision-making is hampered by the lack of known prognostic factors. This study aimed to explore prognostic factors for desobstruction in MBO.

Methods

All patients with inoperable MBO admitted in our large oncology hospital between 2010 and 2013 were treated following a clinical protocol based on antiemetics, steroids and two antisecretories, octreotide, and hyoscine butylbromide. Two prognostic factor analyses using logistic regressions were performed, one based on data from day 1 of admission and the other on data from day 8.

Results

Forty-five patients were included. Frequency of desobstruction was 48.9 %. In the analysis of prognostic factors on day 1, MBO episodes derived from functional physiopathologic mechanisms (vs. mechanic or mixed) were more prone to resolve (p < 0.001 corrected for multiple comparisons). Considering patients alive with persistent obstruction on day 8, a better clinical condition was the variable more associated with desobstruction, but without statistical significance after correction for multiple comparisons.

Conclusions

A functional physiopathologic mechanism of MBO development may be an early prognostic factor for desobstruction. A high proportion of desobstruction was observed, suggesting that the combination of antisecretories with different mechanism of action warrants further investigation.