De novo p.G696S mutation in COL4A1 causes intracranial calcification and late-onset cerebral hemorrhage: A case report and review of the literature

BackgroundThe collagen type IV alpha 1 chain (COL4A1) is an essential component of the basement membrane in small vessels. Pathogenic variants in COL4A1 cause perinatal cerebral hemorrhages in an autosomal-dominant fashion. However, little is known about the long-term outcomes of patients with mildly affecting COL4A1 mutations.Case reportWe report a 17-year-old boy, who presented with recurrent intracranial hemorrhages in the periventricular white matter. He had been followed-up as a child with cerebral palsy bearing intracranial calcifications, developmental delay and epilepsy. Screening tests in infancy provided negative results for intrauterine infections. Severe motor and cognitive deficits persisted after admission. Carbazochrome was introduced on day 19 of admission, which appeared to prevent extension and reactivation of cerebral hemorrhages for over 6 months after discharge.ResultsTargeted sequencing of NOTCH3 and TREX1 excluded causal mutations in these genes. The whole-exome sequencing revealed that he carried a de novo mutation in COL4A1 (p.Gly696Ser). An overview of the literature for 345 cases with COL4A1 mutations supported evidence that p.Gly696Ser is associated with the unique phenotype of late-onset hemorrhage among patients with COL4A1-associated cerebral angiopathy.ConclusionsThis case first demonstrates that infants with COL4A1-associated leukoencephalopathy and calcifications have a risk for developing the rupture of small vessels in the cerebral white matter after 10 years of age.     

Parenchymal calcification is associated with the neurological prognosis in patients with congenital rubella syndrome

Congenital rubella syndrome (CRS) results from maternal rubella virus infection in early pregnancy. Abnormal neuroimaging findings have been analyzed in a small number of CRS patients in the past; however, their clinical significance has been poorly addressed. Therefore, we have investigated the neuroimaging findings of 31 patients with CRS from previous studies. The most common finding was parenchymal calcification, which was observed in 18 of 31 patients (58.1%). A multivariable logistic regression model showed that it was associated with psychomotor or mental retardation (p = 0.018), suggesting that parenchymal calcification in CRS could be a prognostic factor.     

Vitamin D,Cardiovascular System,and Longevity of Hemodialysis Patients

Abstract: The risk of cardiovascular death is high in hemodialysis (HD) patients, and thickening, stiffening and calcification of the arterial wall have been shown as its predictive factors. Activated vitamin D preparations are used for the treatment of secondary hyperparathyroidism in HD patients, but as they increase serum phosphate and calcium concentrations, there is a concern that they promote vascular calcification and, consequently, exacerbate the outcomes. In this article, the effects of vitamin D therapy on survival, cardiac function, arteriosclerosis, immunity, and inflammation are evaluated by reviewing the literature. In HD patients, the risk of death (particularly cardiovascular death) is significantly lower in those treated than in those not treated with vitamin D. Moreover, activated vitamin D improves cardiac function and alleviates cardiac hypertrophy in HD patients. Experimental data in cultured macrophages, vascular smooth muscle cells, and vascular endothelial cells suggest that it has antiatherosclerotic effects. In vivo, the administration of vitamin D improves immune functions and normalizes inflammatory reactions. In HD patients, vascular calcification is related to the dose of calcium carbonate, but its relationship with the administration of vitamin D is not significant. These observations suggest that, contrary to the general concerns, activated vitamin D exerts favorable effects on the cardiovascular system in HD patients as long as it is used in appropriate clinical doses.     

腰椎终板、椎间盘退变及椎间盘造影疼痛激发试验的相关性研究

目的探讨下腰痛患者腰椎终板Modic退变、椎间盘退变及CT引导下腰椎间盘造影疼痛激发试验的相关性.方法对45例下腰痛患者常规行腰椎X线和MR检查,分别按Modic终板退变标准（0～3级）与Pearce椎间盘退变标准（Ⅰ～Ⅴ级）对终板和椎间盘进行评估.在CT引导下对45例患者中的40例（120个椎间盘）进行造影和疼痛激发试验,并按Dallas椎间盘造影分级系统（DDD）测评椎间盘退变程度.采用SPSS 11.5统计学软件分析腰椎终板Modic退变、椎间盘退变与腰椎间盘造影疼痛激发试验之间的相关性.结果40例下腰痛患者的腰椎终板Modic分级与椎间盘退变Pearce分级存在较强的相关性（Pearson x^2=43.326,P=0.000）,与椎间盘造影疼痛激发试验有显著相关性（Pearson x^2=27.858,P=0.000）;椎间盘退变Pearce分级与CT椎间盘造影椎间盘退变Dallas分级也呈较强的相关性.结论腰椎终板Modic退变分级与椎间盘退变Pearce分级密切相关,而与椎间盘疼痛激发试验有显著相关性,提示终板Modic退变可能是下腰痛的原因之一.     

Cardiovascular calcification in end-stage renal disease.

Cardiovascular diseases are common in patients with end-stage renal disease (ESRD) and cardiovascular morbidity and mortality among dialysis patients are substantially higher than in the general population. The reasons for this high incidence are multiple. They include traditional factors such as hypertension, diabetes, dyslipidaemia, sodium overload, and elevated homocysteine levels as well as disturbances of mineral metabolism, specifically abnormalities in phosphorus and calcium homeostasis. This review will describe the specific cardiovascular complications related to calcifications in ESRD, the implications of the abnormalities of mineral metabolism in its pathogenesis and the current imaging techniques available for the detection of cardiovascular calcifications. Excess of calcium load contributes to the development of cardiac calcifications; therefore, alternative strategies to diminish exogenous calcium load should be considered in patients with ESRD.     

儿童颈椎间盘钙化症的影像诊断

目的 探讨儿童颈椎间盘钙化症的影像表现及诊断价值，并提高对本病的认识。方法 回顾分析16例儿童颈椎钙化性椎间盘病的影像表现。结果 16例患均行颈椎平片检查，5例行CT扫描并作了三维重建，8例行MRI检查。16例平片均显示了椎间盘钙化灶，均为单发，CT平扫加三维重建显示4例钙化呈卵圆形，1例钙化为不规则形。MRI检查不仅显示了椎间盘内改变还清晰显示了病变相邻椎体边缘信号改变，在T1、T2加权像上呈低信号。结论 平片检查可以显示椎间盘钙化；CT平扫加三维重建能清晰显示了钙化灶的大小、形态；MRI检查在显示受累椎体及周围组织的改变方面明显优于CT和平片。