A mendelian form of neural tube defect caused by a de novo null variant in SMARCC1 in an identical twin

Neural tube defects (NTDs) are among the most common birth defects in humans and yet their molecular etiology remains poorly understood. NTDs are believed to result from the complex interaction of environmental factors with a multitude of genetic risk factors in a classical multifactorial disease model. Mendelian forms of NTDs in which single variants are sufficient to cause the disease are extremely rare. We report a monozygotic twin with severe NTDs (occipital encephalocele and myelomeningocele) and a shared de novo, likely truncating, variant in SMARCC1. RTPCR analysis suggests the potential null nature of the variant attributed to nonsense‐mediated decay. SMARCC1 is extremely constrained in humans and encodes a highly conserved core chromatin remodeler, BAF155. Mice that are heterozygous for a null allele or homozygous for a hypomorphic allele develop severe NTDs in the form of exencephaly. This is the first report of SMARCC1 mutation in humans, and it shows a critical and conserved requirement for intact BAF chromatin remodeling complex in neurulation. Ann Neurol 2018;83:433–436     

Thymulin related peptide attenuates inflammation in the brain induced by intracerebroventricular endotoxin injection

Based on significant amount of evidence, it is now generally believed, that one underlying cause for neurodegenerative diseases, could be dysregulation in inflammatory processes. The actual mechanisms involved are not yet well understood. Several studies have demonstrated the potent analgesic and anti-inflammatory actions of thymulin related peptide (PAT), in different animal pain models. In this study, we investigated the efficacy of PAT in a recently developed model of neuroinflammation, in conscious rats, caused by intracerbroventricular (ICV) injection of endotoxin (ET). Our results indicate that ICV injection of PAT alone did not elicit significant alteration of nociceptive thresholds, while ET injections produced significant thermal hyperalgesia and cold allodynia. Pretreatment with PAT resulted in significant alleviation of ET-induced hyperalgesia and increased body temperature. In other sets of experiments, ICV injection of ET resulted in a significant elevation in the concentration of pro-inflammatory mediators measured in different areas of the brain; this elevation was significantly following pretreatment with PAT. Taken together these results provide evidence in support of our hypothesis that as a potent anti-inflammatory and analgesic peptide, PAT might have potential therapeutic use for the treatment of neurodegenerative conditions induced by silent or overt inflammation.     

Systemic lupus erythematosus after thymectomy for myasthenia gravis: a case report and review of the literature

Here, we report a case of systemic lupus erythematosus in a 13-year-old girl who developed the disease 3 years after thymectomy performed for the treatment of myasthenia gravis. The presenting symptoms were fever, generalized fatigability, bilateral loin pain, weight loss, arthralgia, hair loss, and recurrent painless mouth ulcers. Laboratory findings revealed proteinuria, hematuria, anemia, leucopenia, a high titer of antinuclear antibodies (ANA), anti-dsDNA, and decreased complement (C3 and C4) levels. There was minimal ascitis and pericardial effusion. Renal biopsy showed lupus nephritis class IV. The diagnosis of systemic lupus erythematosus was established based on the clinical and laboratory findings. The activity of systemic lupus erythematosus was controlled by pulsed treatment with methyl prednisolone followed by long-term oral glucocorticoid and immunosuppressive therapy. This study highlights the immune system derangement following thymectomy. It also examines the relevant literature.     

难治性膀胱疼痛综合征/间质性膀胱炎患者的骶神经根神经调节治疗:单中心的14年经验

<正>为对照研究慢性骶神经调节(SNM)治疗膀胱疼痛综合征/间质性膀胱炎(PBS/IC)患者症状的效果,从而评价SNM的长期成功率和耐受性。作者回顾性分析研究1994~2008期间该院泌尿外科所有经周围神经评估(PNE)和慢性骶神经调节治疗控制PBS/IC症状的患者,同时应用整体反应量表作为有效性工具来测量慢性     

Mid-diastolic left ventricular volume and mass: Normal values for coronary computed tomography angiography

Background

The adoption of prospectively ECG-triggered acquisition coronary computed tomography angiography (CTA) has resulted in the inability to measure left ventricle (LV) end-diastolic volume and LV ejection fraction. However other prognostic measures such as LV mass and LV mid-diastolic volume (LVMDV) can still be assessed. The objective of this study is to establish normal reference values for LVMDV and LV mass.

Gamma-Ray Attenuation and Exposure Buildup Factor of Novel Polymers in Shielding Using Geant4 Simulation

Polymers are often used in medical applications, therefore, some novel polymers and their interactions with photons have been studied. The gamma-ray shielding parameters for Polymethylpentene (PMP), Polybutylene terephthalate (PBT), Polyoxymethylene (POM), Polyvinylidenefluoride (PVDF), and Polychlorotrifluoroethylene (PCTFE) polymers were determined using the Geant4 simulation and discussed in the current work. The mass attenuation coefficients (μ/ρ) were simulated at low and high energies between 0.059 and 1.408 MeV using different radionuclides. The accuracy of the Geant4 simulated results were checked with the XCOM software. The two different methods had good agreement with each other. Exposure buildup factor (EBF) was calculated and discussed in terms of polymers under study and photon energy. Effective atomic number (Z_eff) and electron density (N_eff) were calculated and analyzed at different energies. Additionally, the half-value layer (HVL) of the polymers was evaluated, and the results of this parameter showed that PCTFE had the highest probability of interaction with gamma photons compared to those of the other tested polymers.