Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary cerebral small vessel disease caused by NOTCH3 gene mutations. At present, the pathogenesis and the effective treatments of CADASIL is unclear. This review summarizes the existing pathogenesis of CADASIL, including the dysfunction of cerebral small arteries, the abnormalities of vascular smooth muscle cells, and the possible destruction of blood-brain barrier.

OBJECTIVE: To establish Access database to conserve and manage patients’ clinical information in therapeutic drug monitoring (TDM). METHODS: Therapeutic Drug Monitoring Database Management Software was established to analyze the utilization of digoxin and CsA in renal transplantation patients combining with the situation of TDM in our hospital. RESULTS: The database had the advantages of convenient data processing and rapid inquiry. CONCLUSIONS: Access database is convenient for information management of case history and can afford a great support for clinical pharmacists.

Objective Autosomal dominant pigmentary type of orthochromatic leucodystrophy (POLD) is a rare disease characterized pathologically by demyelination and an appearance of pigmentary glial and scavenger cells in cerebral white matter. We reported a northern Chinese family with autosomal dominant POLD. Methods Brain,skin and muscle biopsies as well as brain postmortem examination were performed in proband patient. Results Proband patient,a 39-year-old woman suffered a progressive motor disturbance,dysarthria and dysphagia,accompanied with respiratory difficulty and incontinence. She died after a disease interval of 2 years. Her father,uncle and two sisters also died of similar symptoms. The onset of disease occurred in between 34～56 years old and had an interval of 1～4 years. CT showed periventrically multifocal hypodensity lesion in all three women. MRI showed multifocal lesions in parietal and frontal white matter and there appeared hypodensity on T 1 weighted scan and hyperdensity on T 2 weighted scan. Diffuse demyelination,disappearance of axons,appearance of macrophages,proliferation of astrocytes and decrease of oligodendrocytes were found in the parietal and frontal white matter. Macrophages and glial cells contained lipopigments,which ultrastructurally consisted of membrane bounded intracytoplasmatic inclusions with fingerprint pattern,curved or straight parallel arrangement. The same lipopigments were also observed in brain biopsy specimens,but not in muscle and skin tissues. Conclusion Clinical and neuropathological findings confirmed that this family should be a case of having autosomal dominant POLD. Because the pathological changes found predominantly in glial cells in white matter and the eosinophilic lipopigments in glial cells presented with morphological features of lysosomes,the POLD should be a glial lysosomal disorder.

Objective To report on an autosomal recessive pyramidal tract, corpus callosum and peripheral nerve degeneration in a family and to study its relationship with other complicated hereditary spastic paraparesis. Methods Neurological examination revealed the following findings. Proband was a 20 year old man who spoke slowly and developed mental retardation in his childhood. Gait disturbance with pyramidal signs and mild cerebellar ataxia were found when the patient was 16. Slight sensory disturbance was present in the lower extremities. His 23 year old sister had similar symptoms at beginning of disease when she was 17. Their clinical courses were bad progressively. Electromyogram showed nerve conduction velocity decrease in the nerve medianus and neurogenic process in the muscle tibialis anterior. Cranial MRI, muscle and nerve suralis biopsies were examined in proband patients. Results MRI showed thin corpus callosum with cerebral and cerebellar atrophy as well as enlargement of ventricle system. Myopathological findings were characterized by angular atrophy fibers in small groups with appearance of hypertrophy fibers. The nerve suralis biopsy showed degeneration and regeneration of myelinated axons. Conclusion Our study confirms that this family is hereditary spastic paraparesis with mental retardation, thin corpus callosum and polyneuropathy reported mostly in Japan. Axonal polyneuropathy is a common pathological feature of this disease.

?AIM:To compare the corrected vision and improvement of visual quality after wearing rigid gas permeable corneal lens ( RGPCL) or spectacles in aphakic patients.?METHODS: We selected 29 aphakic patients ( 29 eyes ) caused by different reasons wearing RGPCL and spectacle.The corrected vision, eye condition and visual quality were observed and all patients were followed up for 6mo.? RESULTS: RGPCL was better than spectacle on corrected vision (P<0.05).The patients who wore RGPCL for long had no corneal complications reported. The patients who wore RGPCL had better subjective visual quality than those wore spectacle.?CONCLUSION: RGPCL is a good choice for correcting high myopia and astigmatism for aphakic patients.The patients'compliance is good. Wearing RGPL long has high safety for patients'ocular surface.

A strain of resistance to copper and cadmium with high concentration, named NTG-01, was isolated from soils of DaYe county mineral area in HuBei province. It can resist copper of 4.5mmol/L and cadmium of 2mmol/L , so we can say that it is a important strain used to study the resistance mechanism of copper and cadmium. A series of morphological and biochemical characteristics and sequences analysis of 16S rDNA reveal that it belongs to the bacteria and is gram negative, short rod, flagella around, the size of bacteria is about 0.8?m?2.0?m , V-P result shows positive, methyl-red result displays negative, and glucose can be utilized to produce acid and gas; In addition to, we find that it has the percent 99 homologous to Enterobacteraerogenes by 16S rDNA sequences BLAST analysis, plus the results of morphological and biochemical parameters, it belongs to Enterobacteraerogenes. We can conclude that NTG-01 has higher resistance to many different heavy metals by measuring MICs values of nine heavy metals at last.

ObjectiveTo investigate the characteristic of pathology in Chinese patients with Nonaka myopathy.MethodsThirteen patients (7 males and 6 females) diagnosed with Nonaka myopathy in our laboratory from January 2002 to March 2011 were included in this study.Their mean age was 39.5 years old and the mean duration of illness was 4.15 years.The most common symptoms were weakness of raising feet with sparing of quadriceps femoris muscles in the early stage of disease.One patient presented the initial symptoms of upper limb weakness. Muscles biopsies were obtained from all these 13 patients. Histology study including immunohistochemical (IHC) staining with antibody against amyloid 3,phosphorylated tau protein,ubiquitin,glucose-regulated protein of molecular weight 78 000(GRP78),calnexin,caspase-12and Bax were performed.Skeletal muscle samples from 3 chronic fatigue syndrome patients,2 myofibrillar myopathy patients were used for control in the IHC staining. All coding exons of uridinediphospho-N-acetylglucosamine 2-epimerase gene were directly sequenced in genomic DNA from these patients.Results The main pathological changes of tibialis anterior muscle in 12 cases were muscle dystrophy with rimmed vacuoles.The rimmed vacuoles were positive for anti-β-amyloid,tau protein and ubiquitin in IHC studies.In the atrophy fibers,IHC showed the increased expression of endoplasmic reticulum stress related proteins GRP78 and calnexin,and apoptosis proteins of caspase-12 and Bax.ConclusionsThere is accumulation of abnormal proteins in muscle fibers in Chinese patients with Nonaka myopahty.These proteins may stimulate endoplasmic reticulum stress and apoptosis,which may be a mechanism responsible for muscle damage.

Objective To report the clinical, myopathological and genetic features in myofibrillar myopathy (MFM) with numerous cytoplasmatic-spheroid bodies. Methods Ten patients in 5 successive generations began to present progressive proximal limbs weakness at 35 to 40 years old. Additionally, 4 cases manifested diarrhea and 6 cases accompanied with cardiorespiratory symptoms. An open biopsy was performed on the proband. In addition to histological, enzymhistochemical staining and ultrastructural examination, immunohistochemical staining with antibody against tau, desmin, ubiquitin, dysferlin, dystrophin-C', dystrophin-N' and dystrophin-R were done. All the exons of the MYOT, CRYAB, DESMIN, LDB3, LMNA, SEPNI gene and the FLNC exon 48 were analysed. Results Cytoplasmatic bodies and spheroid bodies were found in the fibers. The deposited material were positive for tau, desmin, ubiquitin, dysferlin and dystrophin-R, dystrophin-C'. Electron microscope showed granular dense Z-disc material in the inclusions which were surrounded by thin filament. There was no mutation in the above exons of the 7 candidate genes. Conclusions Myofibrillar myopathy involves multiple system impairment. Cytoplasmatic and spheroid bodies contain microtubule and membrane associated protein. The disease might be induced by some unknown genetic abnormities.

Fatal Outcome ; Humans ; Infant, Newborn ; Leukemia ; blood ; congenital ; diagnosis ; Leukocyte Count ; Male

Objective To evaluate the efficacy and safety of intravenous thrombolysiswith urokinase combined with emergency interventional therapy acute myocardial infarction(AMI).Methods 128 patients with AMI were randomized to thrombolysis plus PCI group and primary PCI group,the patency rate of infarct related artery(IRA) before intervention,the procedural success rate,the incidence of bleeding complications and acute ischemic events during hospitalization and the left ventricular ejection function(LVEF) measured by echocardiography before discharge were compared.Results The IRA patency rate in the thombolysis plus PCI group(65.7%) was significantly higher than that in the primary PCI group(24.3%)(P