Perinatal infection and hypoxic-ischemic encephalopathy: a pilot study

Recent studies suggest a synergic effect of infection and hypoxia-ischemia in the causation of perinatal brain damage. We conducted a prospective pilot study on the presence of infection in hypoxic-ischemic encephalopathy (HIE), focusing on neurotropic viruses. Sixteen newborns with HIE were included in the study. There were no confirmed cases of viral infection. There was a case of bacterial early onset sepsis and four cases of suspected sepsis due to clinical and/or analytical signs, but with negative cultures. Our results do not support universal screening for viral infection in cases of HIE.     

Laparoscopic Extracorporeal Appendectomy in Overweight and Obese Children

Methods:This single-center retrospective chart review included patients 21 years of age and younger with a preoperative diagnosis of appendicitis who underwent laparoscopic appendectomy from January 2010 through December 2015. Cases of gangrenous and perforated appendicitis were excluded. Subgroup analyses of patients with acute appendicitis were performed. Operative time (OT), length of stay (LOS), and cost were compared between groups stratified by body mass index (BMI) and operative technique.Results:A total of 625 appendectomies were performed—457 for acute appendicitis. Sixty-eight patients were overweight. The SP technique (n = 30) had shorter OT (median minutes, 41 vs 68; P < .001), lower cost (median , $5741 vs $8530; P < .001), and shorter LOS (median hours, 16 vs 19; P = .045) than the TP technique had (n = 38). Seventy patients were obese: 19 were treated with SP and 51 with TP. LOS did not differ significantly between the SP and TP groups, but subjects treated with SP had shorter OT (median minutes, 39 vs 63; P < .001) and lower cost (median, $6401 vs $8205; P = .043).Conclusions:The SP technique for acute appendicitis was found to have a significantly shorter OT and lower cost in all weight groups. There were minimal differences in LOS. SP should be considered in patients with acute appendicitis, regardless of their weight.     

Circulating SIRT1 Increases After Intragastric Balloon Fat Loss in Obese Patients

Background

Sirtuins (SIRTs), ubiquitous deacetylases, are main regulators of energy homeostasis and metabolism. SIRT1 has a positive impact on obesity, diabetes mellitus, liver steatosis, and other metabolic disorders. Lean subjects have higher expression of SIRT1 in the adipose tissue compared to obese. However, it is not known whether weight loss associates with changes in blood SIRT1. We evaluated the effect of weight loss on circulating SIRT1, metabolic parameters, and body composition.

Methods

Thirty-two obese subjects were studied before and 6 months after BioEnterics® Intragastric Balloon (BIB®) [22 patients, BMI 41.82?±?6.28 kg/m²] or hypocaloric diet [10 patients, BMI 38.95?±?6.90 kg/m²]. Plasma SIRT1, body composition, measures of metabolic syndrome (waist circumference, fasting plasma glucose, blood pressure, HDL cholesterol, triglycerides), and inflammation markers (ESR, CRP, fibrinogen) were recorded.

Results

SIRT1 levels showed a significant increase, together with a significant reduction of BMI, excess body weight, and total fat mass either after BIB or diet intervention. The percent excess body weight loss was 33.73?±?19.06 and 22.08?±?11.62 % after BIB and diet, respectively, a trend toward a metabolic and inflammatory amelioration was observed with both treatments. Negative correlation between SIRT1 and % fat mass (BIB, ρ?=??0.537, p?=?0.017; diet, ρ?=??0.638, p?=?0.047) was also seen.

Conclusions

The reduction of fat mass associates with increased plasma SIRT1 indicating that, besides tissue levels, circulating SIRT1 is stimulated by a negative caloric balance. The rise of plasma SIRT1 may represent a parameter associating with fat loss rather than weight lowering regardless of the weight reduction system method used.

     

Effects of the testicular feminization mutation (tfm) of the androgen receptor gene on BSTMPM volume and morphology in rats

The posteromedial bed nucleus of the stria terminalis (BSTMPM) is an important component of the extended amygdala that is sexually dimorphic in rats. We examined the effect of the testicular feminization mutation (tfm), which renders the androgen receptor (AR) dysfunctional, on BSTMPM volume and average somal area. As expected, we found a significant sex difference in the volume of the BSTMPM, with females having a smaller BSTMPM than wild type males. Size of the BSTMPM in tfm males was also significantly smaller than that of wildtype males, although this difference was significant only on the left side. We found no sex difference in BSTMPM somal areas. These findings support the role of androgen receptors in the sexual differentiation of this nucleus.     

Effects of repetitive transcranial magnetic stimulation on spike-and-wave discharges

Aim of this study was to evaluate the effect of 5Hz-suprathreshold repetitive transcranial magnetic stimulation (rTMS) on the duration of the spike-and-wave discharges (SWDs) in a patient presenting idiopathic absence seizures. At the moment of the study the patient presented a mild blunting of consciousness due to the high frequency of absences and EEG recordings showed sub-continuous, generalized, symmetrical and synchronous 3c/s SWDs, petit mal status. Trains of 10 stimuli (120% resting motor threshold) were delivered at 5Hz frequency at the beginning of the SWDs. 5Hz-rTMS trains significantly changed the EEG activity by reducing the duration of SWDs without changing the intervals between two consecutive discharges. rTMS had not significant after-effects on the epileptic activity and patient's clinical status. Despite the limitations of a single case report, our neurophysiological findings suggest that 5Hz-suprathreshold rTMS delivered in short trains induces a transitory interference of the ongoing epileptic activity.     

A truncation in the RYR1 gene associated with central core lesions in skeletal muscle fibres

A novel single-nucleotide deletion in exon 100 of the RYR1 gene, corresponding to deletion of nucleotide 14,510 in the human RyR1 mRNA (c14510delA), was identified in a man with malignant hyperthermia and in his two daughters who were normal for malignant hyperthermia. This deletion results in a RyR1 protein lacking the last 202 amino acid residues. All three subjects heterozygotic for the mutated allele presented with a prevalence of type 1 fibres with central cores, although none experienced clinical signs of myopathy. Expression of the truncated protein resulted in non-functional RYR1 calcium release channels. Expression of wild-type and RyR1(R4836fsX4838) proteins resulted in heterozygotic release channels with overall functional properties similar to those of wild-type RyR1 channels. Nevertheless, small differences in sensitivity to calcium and caffeine were observed in heterotetrameric channels, which also presented an altered assembly/stability in sucrose-gradient centrifugation analysis. Altogether, these data suggest that altered RYR1 tetramer assembly/stability coupled with subtle chronic changes in Ca2+ homoeostasis over the long term may contribute to the development of core lesions and incomplete malignant hyperthermia susceptibility penetrance in individuals carrying this novel RYR1 mutation.     

Immunoregulatory role of Jalpha281 T cells in aged mice developing lupus-like nephritis

Systemic lupus erythematosus (SLE) is an autoimmune disease characterized by the emergence of autoreactive T cells. Humans and mice with SLE have reduced numbers of CD1d-restricted invariant natural killer T (iNKT) cells, suggesting a key role for these cells in its immunopathogenesis. This subset uses an invariant TCR constituted by Valpha14 Jalpha281 chains paired with some Vbeta domains. The regulatory role for iNKT cells in non-autoimmune mice was suggested by our previous results showing that aged Jalpha281 knockout (KO) mice produce anti-dsDNA. Here we show that old Jalpha281 KO mice have proteinuria and antibodies against dsDNA and cardiolipin. Histological analysis of Jalpha281 KO mice revealed glomeruli damage and deposition of C3c and IgG, mainly of the IgG3 subclass. In spleens of aged Jalpha281 KO mice there is an increase of activated marginal zone B cells. The evolution of lesions may depend on the age-associated increase of autoantibodies production, preferentially IgG3, mainly secreted by marginal zone B cells. Our results provide the first evidence of a lupus-like syndrome in non-autoimmune mice, supporting an age-related immunoregulatory role of Jalpha281+ cells, probably associated with the activation of marginal zone B cells.     

Assessment of Skeletal Muscle Mass in Older People: Comparison Between 2 Anthropometry-Based Methods and Dual-Energy X-ray Absorptiometry

Objectives

Sarcopenia is a common geriatric syndrome, whose diagnosis implies the assessment of muscle mass. Dual-energy x-ray absorptiometry (DXA) is the reference method for clinical practice, but it is not universally available. We compared DXA with 2 anthropometry-based methods to assess muscle mass in older adults.