Different patterns of cerebellar abnormality and hypomyelination between POLR3A and POLR3B mutations

Background

Mutations of POLR3A and POLR3B have been reported to cause several allelic hypomyelinating disorders, including hypomyelination with hypogonadotropic hypogonadism and hypodontia (4H syndrome). Patients and methods: To clarify the difference in MRI between the two genotypes, we reviewed MRI in three patients with POLR3B mutations, and three with POLR3A mutations. Results: Though small cerebellar hemispheres and vermis are common MRI findings with both types of mutations, MRI in patients with POLR3B mutations revealed smaller cerebellar structures, especially vermis, than those in POLR3A mutations. MRI also showed milder hypomyelination in patients with POLR3B mutations than those with POLR3A mutations, which might explain milder clinical manifestations. Conclusions: MRI findings are distinct between patients with POLR3A and 3B mutations, and can provide important clues for the diagnosis, as these patients sometimes have no clinical symptoms suggesting 4H syndrome.     

Pathomorphological description of the shunted portion of a filum terminale arteriovenous fistula

Background contextThe clinical morphology of a filum terminale arteriovenous fistula (f-AVF) is well known; however, pathological details of the fistulized portion are unknown. Herein, we report the pathological findings of the f-AVF.Study designCase report and literature review.PurposeTo present a detailed pathological examination of the fistulized portion of the f-AVF.MethodsA 71-year-old man presented with gradually worsening bilateral foot paresthesias and anal dysesthesia. T2-weighted magnetic resonance imaging showed flow voids surrounding an edematous conus medullaris and cauda equina with spinal stenosis at L3–L4 and L4–L5. Spinal digital subtraction angiography demonstrated an f-AVF fed by the left T9 intercostal artery.ResultsWe performed laminotomies of L3 and L4 to open the dura mater and found a hypertrophic filum terminale. It was resected, leaving a length of 2 cm between the abnormal proximal end and normal distal end. The f-AVF completely disappeared after the surgery. On pathological examination, the filum terminale included two vessels at the proximal end and one at the distal end. At the proximal end, immunostaining showed one vessel that was definitively an artery with both an internal elastic membrane (IEM) and smooth muscle. The other was a vein and lacked an IEM. On the distal side, the collagen fibers gradually increased, the IEM partially disappeared from the arterial wall, and the vein became arterialized with a thin IEM. At the distal end the two vessels joined. Therefore, we speculated that the fistulized portion of the f-AVF was not a fistula point but had some lengths where the artery had characteristics of a vein and there was venous arterialization.ConclusionsThe filum arteriovenous shunting occurred at the portion where there was venous arterialization and the artery had the characteristics of a vein. Therefore, resecting the filum terminale requires more proximal from the normal distal end.     

Emotional Control,Styles of Coping with Stress and Acceptance of Illness among Patients Suffering from Chronic Somatic Diseases

The purpose of this study was to analyse the associations of emotional control with sociodemographic and clinical variables in a sample of patients with a range of chronic somatic diseases. The relationships between emotional control, coping styles and adjustment to the disease were investigated. The sample consisted of 300 patients with the mean age of 54.60 ± 17.57 years. Courtauld Emotional Control Scale was used to measure the patients' tendency to suppress negative emotions, Coping Inventory for Stressful Situations was used to measure coping styles and Acceptance of Illness Scale was applied to determine adjustment to the disease. Patients with neurological conditions showed significantly lower suppression of anger. Levels of emotional control were found to be related to gender, age and educational level but not to the place of residence. Task‐oriented style of coping with stress correlated positively with suppression of depression and anxiety, whereas acceptance of illness correlated negatively with suppression of anger. Levels of emotional control are only weakly related to the type of diagnosis; however, some clinical samples may show lower suppression of anger. Suppression of negative emotions is weakly related to adjustment indicators such as certain coping styles and acceptance of illness. Copyright © 2013 John Wiley & Sons, Ltd.     

“更眠安汤”治疗肾阴虚型女性更年期失眠的临床疗效

目的 :观察自拟"更眠安汤"治疗肾阴虚型更年期失眠的临床疗效。方法 :选择2012年6月至2014年3月以失眠为主诉的女性更年期综合征患者36例,给予"更眠安汤"治疗,4周为1个疗程,共服用2个疗程。采用匹兹堡睡眠质量指数量表和中医证候积分评估患者治疗第4周和第8周时的临床疗效,并进行比较。结果 :治疗第4周和第8周时的总有效率分别为86.11%(31/36)和91.67%(33/36),主要睡眠指标较治疗前均有改善,差异有统计学意义(P<0.05);除夜间多梦指标外,治疗第8周时较第4周的其余睡眠指标均更佳,差异有统计学意义(P<0.05)。结论 :"更眠安汤"治疗女性更年期失眠症疗效确切,治疗8周的临床疗效更显著。     

Spontaneously regressed granulomatosis with polyangiitis: A case report

A 71-year-old woman presented with chest pain, cough, and back pain. A chest roentgenogram showed multiple nodular shadows in both lungs. She was diagnosed with granulomatosis with polyangiitis (GPA). The multiple nodular shadows in both lungs regressed spontaneously in a few months. There are few reports of spontaneous regression of GPA, and the underlying mechanism is unclear. Neutrophil extracellular traps (NETs) have been recently shown to be involved in GPA. NETs may also be related to the natural regression of GPA.     

Acoustic radiation force impulse to measure liver stiffness and predict hepatic decompensation in pregnancy with cirrhosis: A cohort study

Background and study aimsPregnancy in association with cirrhosis is a rather uncommon and highly risky situation for both mother and child. We aim to study all factors and the utility of liver stiffness (LS) measurement by Acoustic Radiation Force Impulse elastography (ARFI) to predict hepatic decompensation in pregnant cirrhotic patients.Patients and methodsWe prospectively recruited 224 pregnant women at the multidisciplinary clinic of liver disease with pregnancy, Cairo University. LS was measured using ARFI (Siemens ACUSON S3000 ultrasound system) during the second trimester and 8–12 weeks post-delivery. The outcome of pregnancy and the incidence of hepatic decompensation were assessed.ResultsOur cohort comprised 128 normal pregnancies, 37 patients with pregnancy-related liver disease (Intrahepatic cholestasis (n = 6), preeclampsia (n = 23), and hyperemesis gravidarum (n = 8)) and 59 patients with an established chronic liver disease not related to pregnancy. In all patients, LS significantly decreased after delivery from 1.19 m/s to 0.94 m/s (P < 0.001). In multivariate analysis, LS was an independent predictor for the outcome of pregnancy in all patients (odds ratio (OR) = 5.442 (3.01–6.82), cut-off = 1.21 m/s). Patients with cirrhosis, mean LS was 1.57 ± 0.66 m/s and 26 (44%) patients had hepatic decompensation (hepatocellular jaundice (n = 8), ascites (n = 9) and variceal bleeding (n = 6)). In multivariate analysis; LS, platelets, albumin, and bilirubin were independent predictors of decompensation post-delivery and the OR for LS was 6.141(4.32–7.98). The optimal cut off value of LS to predict decompensation was 1.46 m/s (8.4 kPa) with AUROC of 0.827.ConclusionLS can be used to predict hepatic decompensation after delivery in pregnant women with manifest cirrhosis.