Features of a Chinese family with cerebral cavernous malformation induced by a novel CCM1 gene mutation / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Familial cerebral cavernous malformations (CCMs), characterized by hemorrhagic stroke, recurrent headache and epilepsy, are congenital vascular anomalies of the central nervous system. Familial CCMs is an autosomal dominant inherited disorder and three CCM genes have been identified. We report a Chinese family with CCMs and intend to explore clinical, pathological, magnetic resonance imaging (MRI) features and pathogenic gene mutation of this family.</p><p><b>METHODS</b>Totally 25 family members underwent brain MRI examination and clinical check. Two patients with surgical indications had surgical treatment and the specimens were subjected to histopathological and microstructural examination. In addition, polymerase chain reaction (PCR) and direct sequencing were performed with genomic DNA extracted from 25 family members' blood samples for mutation detection.</p><p><b>RESULTS</b>Brain MRI identified abnormal results in seven family members. All of them had multiple intracranial lesions and four cases had skin cavernous hemangioma. T2-weighted sequence showed that the lesions were typically characterized by an area of mixed signal intensity. Gradient-echo (GRE) sequence was more sensitive to find micro-cavernous hemangiomas. There was a wide range in the clinical manifestations as well as the age of onset in the family. The youngest patient was an 8-year-old boy with least intracranial lesions. Histopathological and microstructural examination showed that CCMs were typically discrete multi-sublobes of berry-like lesions, with hemorrhage in various stages of illness evolution. They were formed by abnormally enlarged sinusoids and the thin basement membranes. A novel T deletion mutation in exon 14 of CCM1 gene was identified by mutation detection in the seven patients. But unaffected members and healthy controls did not carry this mutation.</p><p><b>CONCLUSIONS</b>The clinical manifestations were heterogenic within this family. We identified a novel mutation (c.1396delT) was the disease-causing mutation for this family and extended the mutational spectrum of CCMs.</p>

Clinical study on effect of sanqi tongshu capsule in treating ischemic stroke: multicenter clinical trial / 中国中药杂志

<p><b>OBJECTIVE</b>To observe the clinical effect and security of Sanqi Tongshu capsule in treating ischemic strkoe.</p><p><b>METHOD</b>A multicenter, no dummy, open labeled clincal trail was conducted. 1 753 patient were enrolled in this clinical trial. All patients were treated with the Sanqi Tongshu capsule (200 mg, three times a day) for 28 days. The score of Europe Stroke Score (ESS) and Barthel Index (BI) were evaluated before and after treatment. The adverse reaction occurred in the therapeutic course was also observed.</p><p><b>RESULT</b>Finally, 1742 cases and 1676 cases were respectively assessable by Full analysis set (FAS) analysis and Full analysis set (FAS) analysis. Clinical symptoms markedly improved in patients after treatment, and the score of ESS and BI had significantly improved (P<0.05). According to the score of ESS and BI, the total effect analysis indicated that the total effective rate in FAS and PPS were 81.86% and 84.43% respectively. The rate of adverse reaction was 3.44%, and the raction was so slight that didn't need to receive therapy or withdral drug.</p><p><b>CONCLUSION</b>Sanqi Tongshu capsule is effect and secure in treating ischemic stroke without obvious adverse reaction.</p>

Cerebral cavernous angiomas:clinical,pathophysiological and imaging features in one Chinese family / 中华神经科杂志

Objective To investigate clinical symptoms,pathophysiology and brain imaging features of Chinese familial cerebral cavernous angiomas.Methods Head MRI examination,clinical and pathophysiological examination were performed in a Chinese family with one proband of cerebral cavernous malformation.The disease atlas of the family was drawn.The patients indicative of a surgery underwent resection of hemangioma whose pathophysiology and microstructure were observed.Results Nine familial cerebral cavernous angiomas patients were found to have multiple intracranial lesion in the 18 family members,the penetrance being 50%,conforming to the feature of autosomal incomplete dominance inheritance.Four patients with skin cavernous hemangioma had familial cerebral cavernous angiomas.MRI was the most sensitive modality for the diagnosis of cavernous angioma.With T_2-Weighted sequences,the lesion was typically characterized by an area of mixed signal intensity,with a central reticulated core and a peripheral rim of decreased signal intensity related to deposition of hemosiderin.Gradient-echo(GRE)MRI could find microcavernous hemangiomas that would not be found in other sequences.Cavernous angiomas were typically discrete multilobulated berrylike lesions that contained hemorrhage in various stages of evolution.Histological homogeneity and overlap with other vascular malformations such as capillary telangictasia was common.Cavernous angiomas were composed of endothelial-linked sinusoidal spaces not separated by significant amounts of neural tissue.Hemorrhagic residua were common.Clots at different stages of evolution within the lesion were seen.The basic membranes of sinus became thick and soft.Parts of it were layered.Conclusions Familial cerebral cavernous angiomas is an autosomal incomplete dominance inheritance disease.Cavernous angiomas are composed of endothelial-linked sinusoidal spaces not separated by significant amounts of neural tissue.There are more than one focus in every patients and the skin cavernous angiomas is the foundation of diagnosing familial cerebral cavernous angiomas.Gradient-echo imagine sequence MRI(3.0 T)could be the"golden standard".