Evacuation of intracerebral hematomas in 38 hypertensive patients was reported. Hematomas were found in the internal capsule in 24 patients, subcortex in 5. cerebellum in 7 and brain stem in 2. The volume of hematoma was less than 2ml (in the brain stem) in 2 patients, 20-50ml in 15, and over 100ml in 6. The fluid hematoma was to tally aspirated with stereotactic technique in 7 patients. In 17 patients, over 80% of hematoma was evacuated, and in 14 about 60-80% of hematoma was evacuated by the same technic. The results of the operation were good in 11 patients (29.0%), while in 29% there was a mild disability, and in 12 (31.5%) there was a marked disability, 4(10.5%) died.

This article reports the experience of treatment of 30 cases of temporal epilepsy with surgery. There were 15 male patients and 15 female. The duration of the disease ranged from 5 to 37 years with an average of 13.6 years. 12 patients suffered from grand and petite mal, 8 Jacksonian accompanied by psychomotor epilepsy, and 10 grand mal. Before the operation, the focus with sporadic spikes was found in the temporal lobe with electroencephalogram. Operation: the temporal pole and the medi-basal region were removed in 9 cases, anterior portion of the temporal nesiolobe in 10 cases, temporal neocortical of the temporal lobe in 6 cases, dorsolateral and laterobasal parts in 5 cases. Organic pathological changes were confirmed in all cases by pathological examination. Clinical result of all cases was satisfactory, with an effective rate of 93%. The clinical and pathological changes of epilepsy and efficacy of the treatment are discussed. It is stressed that the localization of the focus of epilepsy depe nds mainly on electroencephalogram. It is very important to look for sporadic spikes using cortical electrode during operation, and complete eradication of the focus is the key to achieve a good treatment effect.

OBJECTIVETo explore the genetic etiology of a pedigree affected with hereditary retinitis pigmentosa.

METHODSHigh-throughput DNA sequencing was used to analyze the sequences of 173 genes associated with hereditary eye diseases in the proband. Suspected mutation was verified with PCR amplification and Sanger sequencing.

RESULTSThe proband was found to have carried a c.570_571 ins GAAGATGCTGT insertional mutation in the RP2 gene located on the X chromosome. All female carriers of the pedigree were heterozygous, while all affected males were hemizygous for the same mutation.

CONCLUSIONThe inheritance pattern of this retinitis pigmentosa pedigree was X-linked recessive. The c.570_571 ins GAAGATGCTGT insertional mutation of the RP2 gene probably underlies the disease.

Eye Proteins ; genetics ; Female ; Genetic Diseases, X-Linked ; genetics ; High-Throughput Nucleotide Sequencing ; Humans ; Intracellular Signaling Peptides and Proteins ; genetics ; Male ; Membrane Proteins ; genetics ; Pedigree ; Pregnancy ; Prenatal Diagnosis ; Retinitis Pigmentosa ; genetics

Objective:To analyze the morphology and molecular biology and clarify the taxonomic status of one Cupriavidus species strain SZY C1 isolated from clinical wound specimens. Methods:Strain SZY C1 was subjected to physiological and biochemical identification, 16S rRNA gene sequencing, and whole genome sequencing. Its genomic features and virulence genes were analyzed using bioinformatics software.Results:Strain SZY C1 was a gram-negative, non-fermenting bacterium wihout flagella and the ability to form spores. After culturing on Columbia blood agar plates for 24 h, it formed grayish-white colonies that were round, raised, opaque, and had neatly defined margins. Based on 16S rRNA gene sequence analysis, strain SZY C1 belonged to the genus Cupriavidus with the highest 98.52% similarity to Cupriavidus metallicuns. The genome size of strain SZY C1 was determined to be 5 515 517 bp, with a G+ C content of 67.87%. Whole genome sequencing showed that strain SZY C1 had the closest phylogenetic relationship with Cupriavidus agavae, with an average nucleotide identity value of 84.76% and a digital DNA-DNA hybridization value of 29.1%, which were lower than the identification threshold for prokaryotic species. The strain SZY C1 carried multiple virulence genes, drug resistance genes, and heavy metal resistance genes. Conclusions:Based on phenotypic and genomic analyses, the strain SZY C1 is a potential new species of the Cupriavidus genus.