Diagnostic efficacy of prostate cancer using targeted biopsy with 6-core systematic biopsy for patients with PI-RADS 5 / 北京大学学报(医学版)

OBJECTIVE@#To investigate the diagnostic efficacy of targeted biopsy (TBx), systematic biopsy (SBx), TBx+6-core SBx in prostate cancer (PCa) / clinically significant prostate cancer (cs-PCa) for patients with prostate imaging reporting and data system (PI-RADS) score of 5, and thereby to explore an optimal sampling scheme.@*METHODS@#The data of 585 patients who underwent multiparametric magnetic resonance imaging (mpMRI) with at least one lesion of PI-RADS score 5 at Peking University First Hospital from January 2019 to June 2022 were retrospectively analyzed. All patients underwent mpMRI / transrectal ultrasound (TRUS) cognitive guided biopsy (TBx+SBx). With the pathological results of combined biopsy as the gold standard, we compared the diagnostic efficacy of TBx only, SBx only, and TBx+6-core SBx for PCa/csPCa. The patients were grouped according to mpMRI T-stage (cT2, cT3, cT4) and the detection rates of different biopsy schemes for PCa/csPCa were compared using Cochran's Q and McNemar tests.@*RESULTS@#Among 585 patients with a PI-RADS score of 5, 560 (95.7%) were positive and 25(4.3%) were negative via TBx+SBx. After stratified according to mpMRI T-stage, 233 patients (39.8%) were found in cT2 stage, 214 patients (36.6%) in cT3 stage, and 138 patients (23.6%) in cT4 stage. There was no statistically significant difference in the detection rate of PCa/csPCa between TBx+6-core SBx and TBx+SBx (all P>0.999). Also, there was no statistically significant difference in the detection rate of PCa/csPCa between TBx and TBx+SBx in the cT2, cT3, and cT4 subgroups (PCa: P=0.203, P=0.250, P>0.999; csPCa: P=0.700, P=0.250, P>0.999). The missed diagnosis rate of SBx for PCa and csPCa was 2.1% (12/560) and 1.8% (10/549), and that of TBx for PCa and csPCa was 1.8% (10/560) and 1.4% (8/549), respectively. However, the detection rate of TBx+6-core SBx for PCa and csPCa was 100%. Compared with TBx+SBx, TBx and TBx+6-core SBx had a fewer number of cores and a higher detection rate per core (P < 0.001).@*CONCLUSION@#For patients with a PI-RADS score of 5, TBx and TBx+6-core SBx showed the same PCa/csPCa detection rates and a high detection rates per core as that of TBx+SBx, which can be considered as an optimal scheme for prostate biopsy.

Ferulic acid improves motor function induced by spinal cord injury in rats via inhibiting neuroinflammation and apoptosis

ABSTRACT Purpose To investigate the effect of ferulic acid (FA) on spinal cord injury (SCI)-induced motor dysfunction and to explore the possible pharmacological mechanisms. Methods Adult male Wistar rats were used in our study. SCI was achieved by clipping the spinal cord T9 of the rat by a vascular clip for 2 minutes. The motor function of the rat was evaluated by Basso, Beattie, and Bresnahan scoring method (BBB) and inclined plane test. Hematoxylin and eosin (HE) staining, NISSL staining, and transmission electron microscopic examination were used to evaluate alterations at the histological level. Polymerase chain reaction (PCR), Western blots, and enzyme-linked immunosorbent assays (ELISA) were employed in biochemical analysis. Results The BBB score and inclined plane test score significantly decreased after SCI surgery, whereas chronic FA treatment (dose of 90 mg/kg, i.g.) for 28 days improved SCI-induced motor dysfunction. HE staining showed that SCI surgery induced internal spinal cord edema, but the structural changes of the spinal cord could be reversed by FA treatment. NISSL staining and transmission electron microscopic examination confirmed the improvement of the effect of FA on the injury site. In the biochemical analysis, it could be found that FA inhibitedSCI-induced mRNA and protein overexpression of pro-inflammatory cytokines (IL-1β, IL-6, TNF-α), as well as iNOS and COX-2 via the modulation of NF-κB level in the spinal cord of SCI rat. Moreover, the SCI-induced decrease of Bcl-2/Bax ratio was also reversed by FA treatment. However, the effect of FA on the expression of Beclin-1 was not statistically significant. Conclusions FA showed a therapeutic effect on SCI, which may be associated with the regulation of neuroinflammation and apoptosis.

Optimal relationship between body composition and blood pressure in adolescents / 中国学校卫生

Objective@#To understand the relationship between the main body components and blood pressure in adolescents and to understand the association between major body components and blood pressure in adolescents provides a basis for reducing the risk of hypertension.@*Methods@#A total of 366 middle school students in Tianjin aged 12-15 with the normal intelligence and no serious disease, willing to participate in the research were selected. Inbody 520 human body composition analyzer was used to analyze their body composition. Systolic blood pressure diastolic pressure curve fit for the dependent variable selection, the optimal model of the selection criteria for goodness of fit value maximum and the minimum AIC value.@*Results@#The percentage of body fat of girls was higher than that of boys(t=-4.73, P<0.01). The systolic blood pressure pulse pressure difference of liposuction body weight was lower than that of boys(t=8.68, 2.38, 2.37, P<0.05). The systolic and diastolic blood pressure of the mixed obesity group was significantly higher than that of the normal body type group(F=6.59, 4.78, P<0.01). In the six fitting models, except for the secondary model between body fat percentage and diastolic blood pressure, the AIC value and R2 value of boys were not statistically significant, the other models were statistically significant(P<0.05). There was no statistical significance in the three-time model between body fat weight and systolic blood pressure, the linear and logarithmic model between body fat percentage and diastolic blood pressure, the linear, logarithmic, quadratic, cubic, AIC value and R2 value of the combined model, but the other models had statistical significance(P<0.05).Besides, the quadratic and power equations between body weight and systolic and diastolic blood pressure of female students meet the minimum of AIC value and the maximum of corrected goodness of fit R2, the percentage of body fat, body weight and systolic and diastolic blood pressure of male and female students meet the minimum of AIC value and the maximum of corrected goodness of fit R2.@*Conclusion@#Compared with boys, adolescent girls are more prone to obesity and other diseases, and obesity is closely related to blood pressure. It is suggested that the effective control of the growth rate of body fat percentage is conducive to improving physical fitness, preventing and reducing the risk of hypertension, and promoting the healthy growth of adolescents.

Muscle Magnetic Resonance Imaging in Patients with Various Clinical Subtypes of -Related Muscular Dystrophy / 中华医学杂志(英文版)

<p><b>Background</b>LMNA-related muscular dystrophy can manifest in a wide variety of disorders, including Emery-Dreifuss muscular dystrophy (EDMD), limb-girdle muscular dystrophy (LGMD), and LMNA-associated congenital muscular dystrophy (L-CMD). Muscle magnetic resonance imaging (MRI) has become a useful tool in the diagnostic workup of patients with muscle dystrophies. This study aimed to investigate whether there is a consistent pattern of MRI changes in patients with LMNA mutations in various muscle subtypes.</p><p><b>Methods</b>Twenty-two patients with LMNA-related muscular dystrophies were enrolled in this study. MRI of the thigh and/or calf muscles was performed in them. The muscle MRI features of the three subtypes were compared by the Mann-Whitney U-test. The relationship between the clinical and MRI findings was also investigated by Spearman's rank analyses.</p><p><b>Results</b>The present study included five EDMD, nine LGMD, and eight L-CMD patients. The thigh muscle MRI revealed that the fatty infiltration of the adductor magnus, semimembranosus, long and short heads of the biceps femoris, and vasti muscles, with relative sparing of the rectus femoris, was the predominant change observed in the EDMD, LGMD, and advanced-stage L-CMD phenotypes, although the involvement of the vasti muscles was not prominent in the early stage of L-CMD. At the level of the calf, six patients (one EDMD, four LGMD, and one L-CMD) also showed a similar pattern, in which the soleus and the medial and lateral gastrocnemius muscles were most frequently observed to have fatty infiltration. The fatty infiltration severity demonstrated higher scores associated with disease progression, with a corresponding rate of 1.483 + 0.075 × disease duration (X) (r = 0.444, P = 0.026). It was noteworthy that in six L-CMD patients with massive inflammatory cell infiltration in muscle pathology, no remarkable edema-like signals were observed in muscle MRI.</p><p><b>Conclusions</b>EDMD, LGMD and advanced-staged L-CMD subtypes showed similar pattern of muscle MRI changes, while early-staged L-CMD showed somewhat different changes. Muscle MRI of L-CMD with a muscular dystrophy pattern in MRI provided important clues for differentiating it from childhood inflammatory myopathy. The fatty infiltration score could be used as a reliable biomarker for outcome measure of disease progression.</p>

Clinical and Brain Magnetic Resonance Imaging Features in a Cohort of Chinese Patients with Kearns-Sayre Syndrome / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Kearns-Sayre syndrome (KSS) is a mitochondrial DNA (mtDNA) deletion disorder characterized by a triad of onset before 20 years of age, ophthalmoplegia, and pigmentary retinopathy. The heart and central nervous system are commonly involved. We summarized clinical and brain magnetic resonance imaging (MRI) features of a cohort of Chinese KSS patients.</p><p><b>METHODS</b>Nineteen patients confirmed by muscle biopsy and mtDNA analysis were enrolled. We examined clinical profiles, mainly focusing on changes in electrocardiogram (ECG) and brain MRI. The correlation between genotype and phenotype was statistically analyzed.</p><p><b>RESULTS</b>The mean age of onset was 9.6 ± 4.3 years, with all developing the classic triad at the time of diagnosis. Heart conduction block was detected in 63.2%, with four initially presenting as bundle branch block and developing into complete atrioventricular block over 3-72 months. Brain MRI showed symmetric high-T2 signals in 100% of cerebral and cerebellar white matter, as well as brainstem, 46.7% of basal ganglia, and 53.3% of thalamus. There were two patterns of cerebral white matter involvements, one with selective subcortical U-fibers and the other with periventricular white matter. The size of mtDNA deletion did not significantly correlate with age of onset or percentage of ragged blue fibers on muscle pathology.</p><p><b>CONCLUSIONS</b>The clinical features of KSS evolve dynamically, affecting the cardiac conduction system predominantly, highlighting the significance of ECG monitoring. Brain MRI showed changes involving both the white matter and deep gray nuclei. Clinical presentation or severity of muscle pathological changes is not related to the size of mtDNA deletions.</p>

"Target" and "Sandwich" Signs in Thigh Muscles have High Diagnostic Values for Collagen VI-related Myopathies / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Collagen VI-related myopathies are autosomal dominant and recessive hereditary myopathies, mainly including Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy (BM). Muscle magnetic resonance imaging (MRI) has been widely used to diagnosis muscular disorders. The purpose of this study was to evaluate the diagnostic value of thigh muscles MRI for collagen VI-related myopathies.</p><p><b>METHODS</b>Eleven patients with collagen VI gene mutation-related myopathies were enrolled in this study. MRI of the thigh muscles was performed in all patients with collagen VI gene mutation-related myopathies and in 361 patients with other neuromuscular disorders (disease controls). T1-weighted images were used to assess fatty infiltration of the muscles using a modified Mercuri's scale. We assessed the sensitivity and specificity of the MRI features of collagen VI-related myopathies. The relationship between fatty infiltration of muscles and specific collagen VI gene mutations was also investigated.</p><p><b>RESULTS</b>Eleven patients with collagen VI gene mutation-related myopathies included six UCMD patients and five BM patients. There was no significant difference between UCMD and BM patients in the fatty infiltration of each thigh muscle except sartorius (P = 0.033); therefore, we combined the UCMD and BM data. Mean fatty infiltration scores were 3.1 and 3.0 in adductor magnus and gluteus maximus, while the scores were 1.3, 1.3, and 1.5 in gracilis, adductor longus, and sartorius, respectively. A "target" sign in rectus femoris (RF) was present in seven cases, and a "sandwich" sign in vastus lateralis (VL) was present in ten cases. The "target" and "sandwich" signs had sensitivities of 63.6% and 90.9% and specificities of 97.3% and 96.9% for the diagnosis of collagen VI-related myopathies, respectively. Fatty infiltration scores were 2.0-3.0 in seven patients with mutations in the triple-helical domain, and 1.0-1.5 in three of four patients with mutations in the N- or C-domain of the collagen VI genes.</p><p><b>CONCLUSIONS</b>The "target" sign in RF and "sandwich" sign in VL are common MRI features and are useful for the diagnosis of collagen VI-related myopathies. The severity of fatty infiltration of muscles may have a relationship with the mutation location of collagen VI gene.</p>

Maintenance treatment of advanced non-small cell lung cancer / 国际肿瘤学杂志

Currently platinum-based double chemotherapy is the standard first-line treatment for advanced non-small cell lung cancer (NSCLC).When the disease is under control,the next step after a standard course of chemotherapy is controversial,and maintenance treatment is used in the treatment of advanced NSCLC increasingly.Maintenance treatment of advanced NSCLC includes continue maintenance treatment and medication changed maintenance therapy.currently used for maintenance therapy with pemetrexed and erlotinib are shown to improve overall survival,which are usually used for maintenance treatment.

Regimens for inoperable locally advanced non-small cell lung cancer / 国际肿瘤学杂志

Concurrent chemoradiotherapy is the optimal regimen for patients with inoperable locally advanced non-small cell lung cancer (LA-NSCLC).The application of new technologies such as positron emission tomography (PET)/CT and four dimensional CT (4D-CT) enhances the accuracy of radiotherapy and decreases adverse reaction.Induction chemotherapy and consolidation chemotherapy do not show benefit to survival.The targeted therapy and immunotherapy have the potential of improving the outcomes of inoperable LA-NSCLC.

Clinical and genetic study of twelve Chinese patients with Alexander disease / 中华儿科杂志

<p><b>OBJECTIVE</b>To delineate the phenotype and genotype characteristics in 12 Chinese children with Alexander disease (AD), which is helpful for the molecular diagnosis and genetic counseling in China.</p><p><b>METHODS</b>Clinical diagnosis of AD was based on MRI criteria proposed by van der Knaarp in 2001. Included AD patients were followed up for 0.50 - 3.67 years. Mutations in GFAP were detected by DNA sequencing.</p><p><b>RESULTS</b>The 12 cases of AD were clinically diagnosed. Age of first visit was 4.87 years (0.75 - 12.00 years), with 3 types of chief complaints: developmental delay in 3, recurrent seizures in 7, unable to walk after falling in 2. Average head circumference was 52.34 cm (44 - 58 cm), which larger than age-matched average by 6.45% (1.80% - 13.95%). On the first visit, scaling according to Gross motor functional classification system (GMFCS) was performed, with GMFCSI in 8, II in 3, V in 1. Mild to severe cognitive dysfunction were found in 8, and seizures in 11 cases. The 12 patients were followed up for 0.50 - 3.67 years, their motor and cognitive function remained stable. Episodic aggravations provoked by fever or falling were observed in 5 cases (41.67%). Heterozygous missense mutations of GFAP were detected in 12 patients. All mutations were de novo; 3 out of 10 mutations identified were novel. R79 and R239 were hot mutations, which was consistent with previous reports. Mutations were located in exon 1 in 8 cases.</p><p><b>CONCLUSIONS</b>The phenotype in these patients is characterized by slower progression compared with reports from other population and high incidence of seizures. And episodic aggravations provoked by fever or falling were more common. The genotype characteristics are consistent with previous reports. The results of this research expanded the number of patients with Alexander disease found to have GFAP coding mutations in China.</p>

Mitochondrial respiratory chain complex I deficiency due to 10191T>C mutation in ND3 gene / 中国当代儿科杂志

This study reviews a case of mitochondrial respiratory chain complex I deficiency due to the 10191T>C mutation in mitochondrial ND3 gene. The previously healthy boy progressively presented with blepharoptosis, weakness, epilepsy and motor regression at age 6 years. Elevated blood lactate and pyruvate were observed. Brain magnetic resonance imaging showed symmetrical lesions in the basal ganglia. Leigh syndrome was thus confirmed. The protein from the mitochondria and genomic DNA of the boy and his parents was collected from peripheral blood leucocytes for the activity test for mitochondrial complex I to V and genetic analysis. The results showed the activity of complex I (33.1 nmol /min in 1 milligram mitochondrial protein) was lower than normal reference value (44.0±5.4 nmol /min in 1 milligram mitochondrial protein). The ratio of complex I to citrate synthase (19.8%) was also lower than normal reference value (48%±11%). The activities of complexes II to V were normal. 10191T>C mutation in ND3 gene of mitochondria was identified in the boy. 10191T>C mutation and complex I deficiency were not detected in his parents. At present, he is 16 years old, and of normal intelligence with spastic paralysis in both lower extremities after treatment. It is concluded that a Chinese boy with isolated complex I deficiency due to 10191T>C mutation in ND3 gene was firstly diagnosed by peripheral leukocytes mitochondrial respiratory chain enzyme assay and gene analysis. This study can provide clinical data for the nosogenesis of Leigh syndrome.

Clinical and genetic analysis of a family with leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation / 中华儿科杂志

<p><b>OBJECTIVE</b>Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL) is a rare autosomal recessive disease. Affected individuals are invariably compound heterozygous for two mutations in DARS2. No reports of LBSL patients have been published in the mainland of China. The aim of this study was to explore the clinical and genetic features of a family with LBSL, which may contribute to definite diagnosis, genetic counseling and prenatal diagnosis of this rare disease in China.</p><p><b>METHODS</b>Clinical data of the proband and other family members as well as DNA samples were collected. Clinical features including symptoms, signs and cranial MRI were analyzed. All 17 exons and exon-intron boundaries of DARS2 gene were amplified with polymerase chain reaction (PCR) and directly sequenced for genomic DNA. The mutation was proved by DNA restriction enzyme digestion of PCR-amplified fragments.</p><p><b>RESULTS</b>(1) The clinical features of patient with LBSL included slowly progressive cerebellar ataxia and spasticity, the neurologic dysfunction involving the legs more than the arms, and with characteristic abnormalities observed on brain and spinal cord MRI. (2) Two mutations were identified, one was a novel missense mutation [c.665 G > A(p.Gly222Asp)] in DARS2 gene exon 8, the other (c.228-16 C > G) was in DARS2 gene intron 3.</p><p><b>CONCLUSION</b>This is the first report on LBSL patient and DARS2 mutation in China. p.Gly222Asp mutation is a novel mutation not reported around the world yet.</p>

Leucodystrophy induced by late onset 3-hydroxy-3-methylglutaric aciduria / 中国当代儿科杂志

3-Hydroxy-3-methylglutaric aciduria is a rare disorder of organic acid metabolism caused by 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency. The disorder was common in neonatal or infant period. Here a case of late onset 3-hydroxy-3-methylglutaric aciduria complicated by leucodystrophy was reported. The patient was a 7-year-old boy. He presented with progressive headache, drowsiness and vomiting. Hepatic lesions, ketosis and leucopenia were found. Symmetrical diffused leucodystrophy was shown by MRI. Blood levels of isovalerylcarnitine and acetylcarnitine increased significantly. Urinary levels of 3-hydroxy-3-methylglutaric, 3-methylglutaconic, 3-hydroxyglutaric acids and 3-methyl-crotonylglycine increased significantly. Symptoms were released by intravenous infusion of L-carnitine and glucose. After treatment for 6 months, urinary levels of 3-hydroxy-3-methylglutaric aciduria decreased in the boy and his health improved.

Leigh syndrome due to mitochondrial respiratory chain complex II deficiency / 中国当代儿科杂志

Mitochondrial respiratory chain complex II deficiency is a rare documented cause of mitochondrial diseases. This study reported a case of Leigh syndrome due to isolated complex II deficiency. A boy presented with progressive weakness, motor regression and dysphagia after fever from the age of 8 months and hospitalized at the age of 10 months. Elevated blood levels of lactate and pyruvate were observed. Brain magnetic resonance image showed symmetrical lesions in the basal ganglia. Mitochondrial respiratory chain complex I-V activities in peripheral leukocytes were measured using spectrophotometric assay. Mitochondrial gene screening of common point mutations was performed. The complex II activity in the peripheral leukocytes decreased to 21.9 nmol/min per mg mitochondrial protein (control: 47.3±5.3 nmol/min per mg mitochondrial protein). The ratio of complex II activity to citrate synthase activity (22.1%) also decreased (control: 50.9%±10.7 %). No point mutation was found in mitochondrial DNA. The boy was diagnosed as Leigh syndrome due to isolated complex II deficiency. Psychomotor improvements were observed after the treatment. The patient is 22 months old and in a stable condition.

Enzyme analysis of isolated mitochondrial respiratory chain complex III deficiency / 中华儿科杂志

<p><b>OBJECTIVE</b>To study the clinical and enzymological characteristics of the children with mitochondrial respiratory chain complex III deficiency.</p><p><b>METHOD</b>The clinical manifestations of five patients (3 males, 2 females) were summarized. Spectrophotometric assay was used for the analysis of respiratory chain complex I to V enzyme activity in peripheral blood leukocytes, after obtaining venous blood.</p><p><b>RESULT</b>(1) Five patients were hospitalized at the age of 1 month to 15 years. Three patients had Leigh syndrome with progressive motor developmental delay or regression and weakness. One had severe liver damage and intrahepatic cholestasis. One presented muscle weakness. (2) Deficient complex I + III activity was identified in five patients. Their complex I + III activities in peripheral blood leukocytes were 3.0 to 14.2 nmol/min per mg mitochondrial protein (control: 84.4 ± 28.5 nmol/min per mg mitochondrial protein). The ratio of complex I + III to citrate synthase decreased to 3.5 to 22.9% (normal control 66.1 ± 14.7%). The activities of complex III decreased to 10.4 to 49.3% of the lowest control value, while complex I, II, IV and V activities were normal. The results supported the diagnosis of isolated respiratory chain complex III deficiency.</p><p><b>CONCLUSION</b>Complex III deficiency is a kind of disorder of energy metabolism with various manifestations. The complex I + III activities and the ratio of complex I + III to citrate synthase were lower than those of the control. The activities of complex I, II, IV and V were normal.</p>

A case of Leigh syndrome associated with respiratory chain complex I deficiency due to mitochondrial gene 13513G>A mutation / 中国当代儿科杂志

Leigh syndrome is a genetically heterogeneous disease caused by defects in enzymes involved in aerobic energy metabolism and the Krebs', cycle. Mitonchondrial complex I deficiency is a main cause of Leigh syndrome. In this study, a Chinese child with Leigh syndrome caused by 13513G>A mutation was reported. The proband was the first child of his parents. The previously healthy boy presented with generalized epilepsy at 12 years of age. When he visited Peking University First Hospital at 13 years of age, he had subacute loss of vision in two eyes and temporal defect of visual field in the left eye. He walked with a spastic gait. His blood lactate and pyruvate levels were elevated. Muscle biopsy showed mild lipid accumulation in muscle fiber. An electrocardiogram showed incomplete right bundle branch block. Brain magnetic resonance imaging showed bilateral, symmetrical lesions in the basal ganglia, supporting the diagnosis of Leigh syndrome. 13513G>A mutation was identified by gene analysis in the patient, which led to mitochondrial respiratory chain complex I deficiency. Multivitamins and L-carnitine were administered. At present, the patient is 16 years old and has progressive deterioration with significant muscle weakness and body weight loss. He is absent from school. He has no obvious retardation in intelligence. 13513G>A mutation was first identified by gene analysis in Chinese population with Leigh syndrome. This may be helpful in genetic counseling.

Genetic variation in VP7 gene of rotavirus serotype G3 predominated in Changchun, China / 病毒学报

Group A rotavirus (RV) is the most important etiologic agent of severe gastroenteritis among children and the development of an effective vaccine becomes the top public health priority. Since survey of RV serotypes circulating in local community is important for introduction or development of RV vaccine, RV serotype G3 had proved as the predominant strain in Changchun from 2001 to 2005. Stool specimens collected from children with acute diarrhea were tested for group A rotavirus by enzyme-linked immunosorbent assay (ELISA) and RV isolates were typed by reverse transcription-polymerase chain reaction (RT-PCR) using serotype-specific primers. The complete VP7 gene segments of 31 rotavirus strains selected in Changchun from 1999 to 2005 were amplified with RT-PCR. Amplicons were cloned and sequenced. Comparative analysis of the VP7 sequences showed that there were no obvious differences among 31 RV strains. There was similar genetic variation among VP7 genes during the same RV season. The nucleotide sequence of VP7 gene of six G3 RV strains had one base deletion at nt1038 in 2003 RV season. The nucleotide mutations in regions A, B and C of VP7 gene took place at the same position or position near-by. Increase of nucleotide mutation in non- high variation region may benefit maintenance of serotype G3 as pre dominant strain after 2002. Increase of non continuous variation in non-high variation regions was notable.

Leigh syndrome due to pyruvate dehydrogenase E1 alpha subunit gene mutation: a complicated and difficult case study / 中国当代儿科杂志

Leigh syndrome is a genetically heterogeneous disease caused by defects in enzymes involved in aerobic energy metabolism and the Krebs' cycle. Deficiency of pyruvate dehydrogenase complex E1 alpha subunit (PDHA1) is the common cause of Leigh syndrome. In this study, one Chinese case of PDHA1 deficiency was reported. The patient was a boy with normal mental development, retarded motor development, general weakness, hypotonia and areflexia. Muscle histopathological findings suggested axonal peripheral neuropathy. Brain magnetic resonance imaging at 5 years of age revealed bilateral putamina lesions and periventricular white matter demyelination, supporting the diagnosis of Leigh syndrome. A C214T mutation in exon 3 of the PDHA1 gene was detected. After the treatment of thiamin, coenzyme Q10, Lcarnitine and carbohydrates-restricted diet, his movement ability improved significantly. At present, the patient is 8 years old and has normal school life. PDHA1 deficiency is an X-linked inherited metabolic disease, which shares various clinical manifestations and leads to difficult diagnosis. This patient predominately presented with progressive weakness and was diagnosed by gene analysis.

Clinical characteristics of cases with leukoencephalopathy with vanishing white matter / 中华儿科杂志

<p><b>OBJECTIVE</b>To analyze and review the characteristics of leukoencephalopathy with vanishing white matter (VWM).</p><p><b>METHODS</b>The clinical features including clinical manifestations, neurologic signs, cranial MRI and laboratory tests in 9 patients with the diagnosis of VWM were analyzed and the characteristics of the disease were reviewed.</p><p><b></b>RESULTS</p><p><b>CLINICAL MANIFESTATIONS</b>8 cases had symptoms involving central nervous system, 1 case only showed abnormal cranial MRI findings. The onset of the disease occurred between 6 months to 3 years of age. Family history was positive in 5 cases. Almost all cases had normal psychomotor development before the onset of the disease. The initial symptom was usually movement disorder with predominant involvement of lower limbs. The onset or deterioration of the disease was followed by respiratory tract infection in 6 cases and minor head trauma preexisted in 3 cases. The course of the disease was progressive in 7 cases and there was episodic deterioration in 4 cases. Mental abilities were relatively better preserved. Head circumference was normal in 7 cases. Positive upper motor unit signs were found in 8 cases and ataxia in 4 cases. Bilateral optic nerve atrophy was found in 3 cases. Cranial MRI indicated diffuse and symmetrical involvement of deep white matter which showed long T(1) and T(2) signal. Subcortical white matter was also involved with predominance in frontal and parietal lobes. Flair image showed symmetrical high signal intensity in cerebral white matter with low signal intensity similar to that of CSF in partial area or low signal in most area of white matter with only meshwork of higher signal preserved. The results of all the laboratory tests including the enzyme and biochemical test specific for some well-known leukoencephalopathy were normal.</p><p><b>CONCLUSIONS</b>The clinical features of VWM include: 1. Initial symptom is usually movement disorder; 2. Movement disorder is more prominent compared to mental retardation; 3. Cranial MRI shows symmetrical abnormal T(1) and T(2) signal in deep white matter with signs of vanishing white matter. Exclusion of other hereditary and acquired leukoencephalopathy is necessary for diagnosis. Final diagnosis should be made on the basis of genetic evidence.</p>

Etiological study on viral diarrhea among children in Lanzhou, Gansu, from July 2004 through June 2005 / 中华流行病学杂志

<p><b>OBJECTIVE</b>To study molecular epidemiology of four major etiological viruses among children with acute diarrhea in Lanzhou, Gansu province.</p><p><b>METHODS</b>Stool specimens were collected from all 400 inpatients less than 5 years old with acute diarrhea admitted in Department of Pediatrics, the First Hospital, Lanzhou University from Jul. 2004 through Jun. 2005. Dako IDEIA kits were used for detection of rotavirus, adenovirus and astrovirus. Calicivirus detection was done by both reverse transcription-polymerase chain reactions (RT-PCR) and ELISA. Further strain characterization of rotavirus and astrovirus was carried out with RT-PCR.</p><p><b>RESULTS</b>A total of 400 stool samples were collected and tested. Rotavirus was present in 47.3% of the cases: calicivirus in 15.5%, astrovirus in 9.5% and adenoviruses in 7.5%. Mixed infections with multiple enteric viruses were present in 13.5% of all samples. Among 189 rotavirus positive samples, serotype G2 (34.4%) was the predominant strain followed by G3 (32.8%), G1 (1.1%) and mixed-G infection (5.8%). 25.9% of strains remained to be non-typeable. P genotyping showed P [4] (45%) was most common followed by P [8] (22.1%), and non-typeable (32.9%). Strain P [4] G2 (43.6%) was the most common combination followed by P [8] G3 (25.6%), P [4] G3 (13.8%), and P [8] G2, P [4] G1 and P [8] G1. Among 38 astrovirus strains, serotypes 1 (57.8%) was the predominant. Serotype 3 and 8 were found only in one case respectively, 14 strains remained to be non-typeable. A peak admission of rotavirus diarrhea was observed from October through December. More than 95.0% of viral diarrhea patients under hospitalization occurred among children younger than 2 years. The incidence rates of rotavirus were highest in infants aged 6 - 23 months.</p><p><b>CONCLUSION</b>Rotavirus was the most important pathogen for viral diarrhea among children hospitalized in Lanzhou followed by calicivirus, astrovirus, and adenovirus. The predominant rotavirus strain circulated was P [4] G2, which was different from the finding in the previous years. The high rate of mixed infection with different viral agents was notable.</p>

Quantification of cerebral blood flow by flow-sensitive alternating inversion recovery exempting separate T1 measurement in healthy volunteers / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>The feasibility of the mapping of quantitative cerebral blood flow (CBF) named flow-sensitive alternating inversion recovery exempting separate T1 measurement (FAIREST) is still controversial. This study aimed to evaluate the reliability of FAIREST in the measurement of regional CBF (rCBF) in healthy volunteers.</p><p><b>METHODS</b>Eighteen healthy volunteers underwent magnetic resonance (MR) scanning with the sequence of FAIREST. While they were at rest, rCBF values were obtained in various brain regions of interest (ROIs). The same scheme was repeated on every subject after two weeks. Statistical analysis was made to determine the effect of location, scan and side on the measurement of rCBF.</p><p><b>RESULTS</b>The mean CBF values were (122+/-28) ml x (100 g)(-1) x min(-1) and (43+/-10) ml x (100 g)(-1) x min(-1) in the gray and white matter respectively. There was significant main effect of location (t=-12.5, P<0.01), but no significant effect of side. Paired t-test of ROIs in the same slice showed no significant difference in most sites between two scans, except in the gray matter of the bilateral frontal lobes (t=2.18-2.34, P <0.05). However, the rCBF values of the same structure obtained from different slices showed a significant difference (t=-3.49, P<0.01).</p><p><b>CONCLUSION</b>FAIREST is a reliable technique in the measurement of rCBF, but different imaging slice may affect the agreement of rCBF across the scans.</p>