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.     

Experimental periodontitis promotes transient vascular inflammation and endothelial dysfunction

Objectives

This study aimed to evaluate the systemic inflammatory response and cardiovascular changes induced by experimental periodontitis in rats.

Design

Experimental periodontitis was induced by placing a cotton ligature around the cervix of both sides of mandibular first molars and maxillary second molars in each male rat. Sham-operated rats had the ligature removed immediately after the procedure. Seven, 14 or 28 days after procedure, the effects of acetylcholine, sodium nitroprusside and phenylephrine were evaluated on blood pressure, aortic rings and isolated and perfused mesenteric bed. The blood was obtained for plasma Interleukin-6 (IL-6), C-reactive protein (CRP) and lipid evaluation. The mesenteric vessels were obtained to evaluate superoxide production and nitric oxide synthase 3 (NOS-3) expression.

Results

Ligature induced periodontitis reduced endothelium-dependent vasodilatation, a hallmark of endothelial dysfunction. This effect was associated with an increase in systemic inflammatory markers (IL-6 and CRP), worsens on lipid profile, increased vascular superoxide production and reduced NOS-3 expression. It is interesting to note that many of these effects were transitory.

Conclusion

Periodontitis induced a transient systemic and vascular inflammation which leads to endothelial dysfunction, an initial step for cardiovascular diseases. Moreover, the animal model of periodontitis used here may represent a valuable tool for studying the relationship between periodontitis and endothelial dysfunction.     

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.     

Posterior Reversible Encephalopathy Syndrome Following a Scorpion Sting

Posterior reversible encephalopathy syndrome (PRES) is a clinicoradiologic entity not yet understood, that is present with transient neurologic symptoms and particular radiological findings. The most common imaging pattern in PRES is the presence of edema in the white matter of the posterior portions of both cerebral hemispheres. The cause of PRES is unclear. We report a case of 13‐year‐old male who was stung by a scorpion and developed a severe headche, visual disturbance, and seizures and had the diagnosis of PRES with a good outcome. Numerous factors can trigger this syndrome, most commonly: acute elevation of blood pressure, abnormal renal function, and immunosuppressive therapy. There are many cases described showing the relationship between PRES and eclampsia, transplantation, neoplasia and chemotherapy treatment, systemic infections, renal disease acute, or chronic. However, this is the first case of PRES following a scorpion sting.