Analysis of genotypes and phenotypes in Chinese children with tuberous sclerosis complex

Tuberous sclerosis complex(TSC) is a neurocutaneous syndrome with serious clinical presentations, an autosomal dominant genetic disorder involving multiple organs and systems. We retrospectively investigated the clinical manifestations and genotypes of 20 Chinese children with TSC to enable informed diagnostic and surveillance recommendations in China. A retrospective analysis of clinical manifestations in 20 children(7.00±5.30 years old) with TSC was conducted. A genetic testing of the genes TSC1 and TSC2 was performed in 14 children.The earliest manifestations of TSC were skin lesions(80% of patients) and seizures(75%). Fourteen of the children presented with retinal hamartomas, and 2 of these underwent eye enucleation at other hospitals through misdiagnosis. On magnetic resonance imaging, 18 children exhibited subependymal nodules, and 16 ones showed cortical nodules. 5 cases of non-renal hamartomas, 5 cases of multiple renal cysts, and 5 cases of cardiac rhabdomyomas were observed.The genotyping of TSC1 and TSC2 in 14 children revealed 11 with mutations in TSC2, 2 with mutations in TSC1, and no mutations of either gene in one patient. Eight of these observed mutations are reported here in for the first time. The illness presentations of the TSC2-mutated patients were more severe than that of patients carrying TSC1 mutations.There were differences in the mutations of TSC genes in Chinese children from those reported in other countries. The described clinical characteristics and genotyping will help pediatric neurologists to understand, diagnosis, and treat TSC.     

Physical characteristics of Chinese Hakka

Using standard and internationally validated methods,86 anthropologic characteristics were determined in 650 male(305 from urban areas and 345 from rural areas) and 704 female(331 from urban areas,373 from rural areas) Chinese Hakka adults living in Guangdong and Jiangxi.The data were used to calculate 24 anthropologic indices,which were analyzed statistically.The physical characteristics of Hakka subjects were analyzed and compared with reference ethnic data.There were four main findings of this study.First,a small proportion of Hakka adults had an eye fold on the upper eyelid,but a large proportion had a mongoloid fold.The eye slits were narrow in most adults,had a medium nasal root height and straight bridges,and most of the external angles were prominent.The nasal base was upturned in most men.The distributions of the three types of nasal base in women were similar.The proportions of subjects with middle and high alae nasi heights were high and similar.Males with a maximum nostril diameter were mostly classified as transverse and oblique,while many women were classified as transverse and had relatively wide alae nasi.The round lobe type was the most common.Upper lip skin height was mostly classified as medium.Lips were classified as thin.The hair was black,eyes were brown,and the skin was yellowish.Second,the head length was long in male Hakka.The minimum frontal breadth,face breadth,lip height,and interocular breadth were similar to those of North-Asian populations.Meanwhile,head breadth,morphological facial height,nose breadth,mouth breadth,and nose height were similar to those of South-Asian populations.Head length was long in female Hakka.The minimum frontal breadth,face breadth,lip height,and interocular breadth were similar to those of North-Asian populations.Head breadth,nose breadth,and mouth breadth were similar to those of South-Asian populations.Third,the stature of male and female Hakka in urban and rural areas was classified as medium.The proportions of male and female Hakka classified as mesocephaly(length-breadth index of the head),hypsicephalic type,metriocephalic type(breadth-height index of the head) mesorrhiny,long trunk,subbrachyskelic type,broad shoulder breadth,and narrow distance between iliac crests were higher than those of other types.Finally,principal component analyses showed that the physical characteristics of Hakka were between those of South-Asian and North-Asian ethnic populations,but were generally closer to those of North-Asian populations in China.     

Active EB virus infection in adults: a case series of 8 patients in a single institution and a review of related literature

Adult patients with chronic active EB virus infection (CAEBV) are few; however the disease runs an aggressive course. The goal of this study was to investigate the clinical characteristics, treatment as well as prognosis of CAEBV in adults. The clinical data of eight adult patients with CAEBV of were analyzed retrospectively. There were five male and three female patients with a median age of 47 (25-67) years old. The main clinical manifestations were fever, lymphadenopathy, splenomegaly, liver damage, abnormal coagulation and cytopenia. Peripheral blood EB virus DNA titers were significantly higher in all patients (4.14×10⁴—4.60×10⁵copy/mL). Most patients received treatment with glucocorticoids, cyclosporine and chemotherapy containing etoposide (as recommended in the HLH-2004 program or the scheme of ECOP). One patient progressed to aggressive natural killer (NK) cell leukemia in 5 months after diagnosis. Another patient without fever or cytopenia is still living now, after receiving hormone therapy. The remaining 6 cases died with a median survival of 15 months. In conclusion, CAEBV in adults is a rare but serious disease, often with multiple system damage, from which the prognosis is very poor. Further research is necessary to improve the understanding of this disease.     

Seroprevalence of Neutralizing Antibodies against Six Human Adenovirus Types Indicates the Low Level of Herd Immunity in Young Children from Guangzhou,China

Human adenoviruses(HAdVs) commonly cause many diseases such as respiratory diseases, gastroenteritis, cystitis worldwide. HAdV-3,-7,-4 and emergent HAdV-55 and HAdV-14 are the most important types causing severe respiratory diseases. There is no effective drug available for clinical treatment, and no vaccine available for the general population.Therefore, it is important to investigate the seroprevalence against HAdV for developing novel vaccines and vectors. In this study, we investigated the seroprevalence and titer levels of neutralizing antibodies(NAb) against HAdV-3,-4,-7,-14,-55,and-11 in total 278 healthy populations between 0 months and 49 years of age(228 children and 50 adults) from Guangzhou. In children under the age of 18 years, the seropositive rates were significantly increased against HAdV-3 at12.07%, 33.96%, and 64.29% and against HAdV-7 at 0%, 18.87%, and 19.05% in age groups of 1–2, 3–5, and 6–17 years,respectively. The seroprevalence was very low(0% * 8.1%) for all other four types. In adults aged between 18 and49 years, HAdV-3,-4, and-7([ 50.00%) were the most common types, followed by HAdV-14(38.00%),-55(34.00%),and-11(24.00%). Adults tended to have high NAb titers against HAdV-4 and-55. HAdV-55-seropositive donors tended to be HAdV-11-and HAdV-14-seropositive. These results indicated the low level of herd immunity against all six HAdV types in young children, and HAdV-14,-55,-11 in adults from Guangzhou City. Our findings demonstrate the importance of monitoring HAdV types and developing vaccines against HAdV for children and adults.     

Hard to fly the nest： A study of body condition and plumage quality in house sparrow fledglings

Contrary to the nestling phase, the post-fledging phase has been less studied probably because it is challenging to follow the chicks after they fledge. However, this phase is crucial to consider when focusing on the life cycle of individuals because it is associated with new demands： After leaving the nest, individuals have to find their own food and cope with a new set of previously unknown stressors. In this study, we aimed at better understanding how energetically demanding the post-ftedging period is in house sparrows Passer domesticus by measuring several indices of a fledgling＇s state （body condition, fat and muscle scores and plumage quality）. If the energetic demands of the post-fledging period are greater than those of the adult life, we predicted that fledglings should be in lower condition and should have a plumage of lower quality relative to adults. Supporting this prediction, the condition and the plumage of fledglings differed dramatically from those of adults. Interestingly, this difference disappeared in autumn. Overall, our results suggest that the post-fledging period is probably one of the most energetically demanding of the life cycle in this species. Supporting this idea, the resighting probability of fledglings was lower relative to adults. However, resighting probability depends on many factors （mortality, dispersal, habitat use and behaviours） and future studies are necessary to tease apart their relative importance in determining resighting probability [Current Zoology 60 （4）： 449-459, 2014].     

Survival of boll weevil （Coleoptera： Curculionidae） adults after feeding on pollens from various sources

The survival of overwintering boll weevil, Anthonomus grandis grandis （Boheman）, adults on non-cotton hosts in the Lower Rio Grande Valley （LRGV） of Texas was examined from 2001 to 2006. The success of the Boll Weevil Eradication Program, which was reintroduced into the LRGV in 2005, depends on controlling overwintering boll weevil populations. Laboratory studies were conducted using boll weevil adults that were captured in pheromone traps from September through March. The number of adults captured per trap declined significantly in the field from fall to the beginning of spring （3.5-7.0-fold）. The proportion of trapped males and females did not differ significantly. The mean weight of boll weevil adults captured in September was 13.3 mg, while those of captured adults from November to February were significantly lower and ranged from 6.7 to 7.8 mg. Our results show that boll weevil adults can feed on different plant pollens. The highest longevity occurred when adults were fed almond pollen or mixed pollens （72.6 days and 69.2 days, respectively） and the lowest when they fed on citrus pollen or a non-food source （9.7 days or 7.4 days, respectively）. The highest adult survival occurred on almond and mixed pollens [88.0%-97. 6% after 1st feeding period （10 days）, 78.0%-90.8% after 3rd feeding period （10 days）, 55. 0%-83.6% after 5th feeding period （10 days）, and 15.2%-32.4% after lOth feeding period （10 days）]. The lowest adult survival occurred on citrus pollen [52.0%-56.0% after 1st feeding period （10 days）, 13.3% after 3rd and 5th feeding periods （10 days）, and 0 after 6th feeding period （10 days）]. Pollen feeding is not a behavior restricted to adult boll weevils of a specific sex or physiological state. Understanding how boll weevil adults survive in the absence of cotton is important to ensure ultimate success of eradicating this pest in the subtropics.     

Mutation analyses of integrated HBV genome in hepatitis B patients

Little has been learnt in the last 30 years about detection of HBV genome as well as its mutation analysis between hepatitis B fathers （HBF） and their children. In this study, we used nest polymerase chain reaction （PCR）, fluorescence in situ hybridization （FISH）, and DNA sequencing analysis, to examine the integrated HBV genome in paraffin-embedded testis tissues, which were taken as samples from HBE and in peripheral blood mononuclear cells （PBMC） from 74 cases of HBFs and their children who were born after their fathers＇ HBV infection （caHBF）. We found that HBV DNA existed in testis tissues, mainly in the basilar parts of the seminiferous tubules, and also in PBMC of HBE It was also documented that there were point mutations of poly-loci, insertions and deletions of nucleotides in integrated HBV genomes, and the types of gene mutations in the HBFs were similar to those in caHBE This study addresses the major types of gene mutations in integrated HBV genome in human patients and also presents reliable evidence of possible genetic transmission of hepatitis B.     

The EAG response and behavior of the Saperda populnea L. to volatiles from poplar branches

In order to investigate the effect of organic volatiles from poplar species on the host plants orientation of Saperda populnea, the essential oil in the 2–3 years old branches from the sapling or mature trees of Populus simonii Carr. and P. simonii Carr. × P. nigra L. were extracted using the steam distillation method. The chemical composition and relative content in essential oil from those branches was analyzed by GC–MS. The main components contained in those volatiles from the four kinds of branches are mainly aromatic compounds such as 1,2-cyclohexanedione, 2-cyclohexene-1-one, p-xylene and 1,2,3-trimethylbenzene and so on. The relative content of aromatic compounds contained in branches from saplings was higher than that contained in branches from old tress. EAG response and behavioral reaction of S. populnea L. to those four kinds of distillated essential oil were tested. The results shown that male and female adults of S. populnea L. shown significant choice behavior and strong olfactory response to those essential oil distillated from branches of P. simonii Carr. and P. simonii Carr. × P. nigra L.. The EAG bioassay of S. populnea L. to 10 kinds of monomers compounds which had relative higher contents was tested. The results shown that the EAG response of female adults of S. populnea L. to 1 mol L^?1 p-xylene was intensest and reached 1.027 mV, the strength of their EAG response to 0.1 mol L^?1 phenol took the second place. The EAG response of male adult of S. populnea L. to 1 mol L^?1 p-xylene was strongest and reached to 0.824 mV, the strength of their EAG response to 1 mol L^?1 salicylaldehyde took the second place. In the choice behavior test of S. populnea L. adult to monomeric compound carried out in ‘Y’ type olfactometer have found that female and male adult of S. populnea L. all appeared obvious positive taxis to 0.1 mol L^?1 p-xylene. The selection rate of female and male adults ware (76.7 ± 4.1)% and (71.7 ± 2.6)%, respectively. The selective reaction to 0.1 mol L^?1 1,2-cyclohexanedione and 2-cyclohexene-1-one were not obviously than that to 0.1 mol L^?1 p-xylene. The male and female adult of S. populnea L. appeared repelling behavior to 0.1 mol L^?1 salicylaldehyde.     

The EAG response and behavior of the Saperda populnea L. to volatiles from poplar branches

In order to investigate the effect of organic volatiles from poplar species on the host plants orientation of Saperda populnea, the essential oil in the 2–3 years old branches from the sapling or mature trees of Populus simonii Carr. and P. simonii Carr. × P. nigra L. were extracted using the steam distillation method. The chemical composition and relative content in essential oil from those branches was analyzed by GC–MS. The main components contained in those volatiles from the four kinds of branches are mainly aromatic compounds such as 1,2-cyclohexanedione, 2-cyclohexene-1-one, p-xylene and 1,2,3-trimethylbenzene and so on. The relative content of aromatic compounds contained in branches from saplings was higher than that contained in branches from old tress. EAG response and behavioral reaction of S. populnea L. to those four kinds of distillated essential oil were tested. The results shown that male and female adults of S. populnea L. shown significant choice behavior and strong olfactory response to those essential oil distillated from branches of P. simonii Carr. and P. simonii Carr. × P. nigra L.. The EAG bioassay of S. populnea L. to 10 kinds of monomers compounds which had relative higher contents was tested. The results shown that the EAG response of female adults of S. populnea L. to 1 mol L^?1 p-xylene was intensest and reached 1.027 mV, the strength of their EAG response to 0.1 mol L^?1 phenol took the second place. The EAG response of male adult of S. populnea L. to 1 mol L^?1 p-xylene was strongest and reached to 0.824 mV, the strength of their EAG response to 1 mol L^?1 salicylaldehyde took the second place. In the choice behavior test of S. populnea L. adult to monomeric compound carried out in ‘Y’ type olfactometer have found that female and male adult of S. populnea L. all appeared obvious positive taxis to 0.1 mol L^?1 p-xylene. The selection rate of female and male adults ware (76.7 ± 4.1)% and (71.7 ± 2.6)%, respectively. The selective reaction to 0.1 mol L^?1 1,2-cyclohexanedione and 2-cyclohexene-1-one were not obviously than that to 0.1 mol L^?1 p-xylene. The male and female adult of S. populnea L. appeared repelling behavior to 0.1 mol L^?1 salicylaldehyde.     

Is it necessary for screening irregular antibodies of blood donors?

To explore the necessity of electronic crossmatching applied to irregular antibodies from blood donors, to ensure blood transfusion safety. Irregular antibody screening was performed on blood samples collected in the Dongguan Blood Center from Apr 17, 2014 to Dec 31, 2017. Primary screening was performed on the Sanquin automatic blood group analyzer by the microcolumn gel method (Sanquin). The positive samples were analyzed again using the salt medium method, polybrene method and micro-column gel method (Diana) for the second screening. If the second screening was positive, it was used to determine irregular antibody specificity (using panel cells) and any irregular antibody titer was detected. A total of 208,004 samples were detected, of which 316 were positive (316/208,004; 0.152%). Among them, 120 alloantibodies (120/135,139; 0.088%) were detected in male donors, which was much lower than in female donors (173/72,865; 0.237%) (P<0.01). A total of 16 kinds of known irregular antibodies and 40 cases of unknown antibody specificity were detected, with 119 cases of IgG type and 197 cases of IgM type, at the ratio of 1.65:1. In female donors, the frequencies of anti-D, anti-E, anti-M and anti-Le^a were significantly higher than in male donors (P<0.01). In married couples, the frequencies of anti-D and anti-E were significantly higher than those unmarried (P<0.05). In minority nationalities, the frequency of anti-M was significantly higher than in the Han nationality (P<0.05). In non-Guangdong donors, the frequencies of anti-D and anti-Le^a were significantly higher than in Guangdong donors. 87.02% of irregular antibody positive donors’ antibody titers were lower than “++”, which was deemed as no serious hazard for clinical transfusion. The study suggests that it is unnecessary to screen for irregular antibodies in blood donors. Male donors from Guangdong may not be required to undergo screening for irregular antibodies, and anti-D and anti-E only identification is also not required to be detected in female donors.     

我国葫芦科植物离体培养研究进展

葫芦科植物包括多种瓜类蔬菜,对其进行离体培养研究具有重要的理论和实践意义。综述了国内在葫芦科植物器官培养、体细胞胚胎发生、花药培养、原生质体培养和体细胞杂交及离体遗传转化等方面取得的研究进展,并对葫芦科植物离体培养、遗传转化与育种的前景作了展望。     

我国葫芦科植物离体培养研究进展

葫芦科植物包括多种瓜类蔬菜,对其进行离体培养研究具有重要的理论和实践意义.综述了国内在葫芦科植物器官培养、体细胞胚胎发生、花药培养、原生质体培养和体细胞杂交及离体遗传转化等方面取得的研究进展,并对葫芦科植物离体培养、遗传转化与育种的前景作了展望.     

国内双歧杆菌制剂预防小儿继发性腹泻临床疗效的Meta分析

目的系统评价国内双歧杆菌制剂临床预防小儿继发性腹泻的效果。方法按照系统评价的要求检索CBMd isc、VIP、CNK I以及万方数据库等,获得18篇符合纳入标准的文献,共计患儿4050例,对其进行M eta分析,并评价M eta分析结果的稳定性和发表偏倚。结果异质性检验χ^2=34.60,P=0.007〈0.05,采用随机效应模型进行M eta分析,合并RR=0.41,95%C I为0.35～0.49,总体效应检验,Z=10.39,P〈0.00001,差异具有非常显著性,固定效应模型RR值和95%C I与随机效应模型完全一致,剔除小样本报道后的合并RR=0.42,95%C I为0.35～0.50,与剔除前的结果基本一致,且本研究的发表偏倚得到了很好地控制。结论从现有的临床证据来看,双歧杆菌制剂能降低小儿继发性腹泻的发生率,对预防小儿继发性腹泻起到了满意的效果。     

右美托咪啶用于SICU镇静时血流动力学效应与年龄的关系

目的：以心率（HR）、心指数（CI）、体循环阻力（SVR）作为效应指标,明确右美托咪啶（Dex）用于SICU 镇静时年龄和血流动 力学效应的关系。方法：选择2014 年3 月~7 月间在我院SICU 接受普胸或者普外科手术后需要短期镇静患者38 例,各年龄段分 布相对均匀。在病人术后Ramsay评分≤ 3 分时给予右旋美托咪啶6.0 ug/kg/h,连续静脉输注10 min 后停药,应用脉搏指示连续 心输出量监测技术(PICCO)记录用药前及用药后3 min、5 min、8 min、10 min、15 min、20 min、30 min、45 min、60 min、90 min、120 min 的11 个时间点的HR、CI 和SVR。结果：HR、CI 和SVR 的EMAX 随着年龄的增加而增大,可以通过数学模型表示：E= （P<0.05）。结论：右美托咪啶用于SICU 镇静时,患者HR、CI和SVR的EMAX 呈 年龄依赖性变化。     

我国蝴蝶产业发展中亟待解决的几个问题

本文简略介绍了我国目前蝴蝶产业的背景情况和发展现状,着重阐述了该产业发展中亟待解决的目标与思路、政策与法律、科研与技术、人才与培养等一系列问题,并针地性提出了相应解决意见。     

Studies of in vivo mutations in rpsL transgene in UVB-irradiated epidermis of XPA-deficient mice

We have established xeroderma pigmentosum group A (XPA) gene-knockout mice with nucleotide excision repair (NER) deficiency, which rapidly developed skin tumors when exposed to a low dose of chronic UV like XP-A patients, confirming that the NER process plays an important role in preventing UVB-induced skin cancer. To examine the in vivo mutation in the UVB-irradiated epidermis, we established XPA (−/−), (+/−) and (+/+) mice carrying the Escherichia coli rpsL transgene with which the mutation frequencies and spectra in the UVB-irradiated epidermal tissue can be examined conveniently. The XPA (−/−) mice showed a higher frequency of UVB-induced mutation in the rpsL transgene with a low dose (150 J/m²) of UVB-irradiation than the XPA (+/−) and (+/+) mice, while, at a high dose (900 J/m²) they showed almost the same frequency of mutation as the XPA (+/−) and (+/+) mice, probably because of cell death in the epidermis of the XPA (−/−) mice. However, CC→TT tandem transition, a hallmark of UV-induced mutation, was detected at higher frequency in the XPA (−/−) mice than the XPA (+/−) and (+/+) mice at both doses of UVB. This rpsL/XPA mouse system will be useful for further analyzing the role of NER in the mutagenesis and carcinogenesis induced by various carcinogens.     

Role of Hrs in maturation of autophagosomes in mammalian cells

Autophagy is an evolutionarily conserved system responsible for the degradation of cellular components and contributes to the increasing of amino acid pool, organelle turnover, and elimination of intracellular bacteria. The molecular process of autophagy is still unclear. Here we demonstrate that Hrs, a master regulator in endosomal protein sorting, plays critical roles for the autophagic degradation of non-specific proteins and Streptococcus pyogenes. We found that Hrs containing FYVE domain is localized to autophagosomes. Hrs depletion resulted in a significant decrease in the number of mature autophagosomes (autophagolysosomes) detected by the co-localization of autophagosome marker LC3 and lysosome marker LAMP-1. In contrast, formation of the primary autophagosome, detected by LC3 immunoblotting and lysosomal degradation of non-specific proteins, were not significantly altered by Hrs depletion. Based on these results, we propose a novel function of Hrs, as a crucial player in the maturation of autophagosomes.     

Transition of cancer in populations in India

Background & objectivesAn assessment of transition of cancer in India during the past 30 years, according to changes in demographic and epidemiologic risk factors was undertaken.Materials & methodsCancer registry data (http://www.ncdirindia.org), (population coverage <10%), was compared with transition in life-expectancy and prevalence on smoking, alcohol and obesity. We fitted linear regression to the natural logarithm of the estimated incidence rates of various cancer registries in India.ResultsBurden of cancer in India increased from 0.6 million in 1991 to 1.4 million in 2015. Among males, common cancers are lung (12.0%), mouth (11.4%), prostate (7.0%), and tongue (7.0%) and among females, they are breast (21.0%), cervix-uteri (12.1%), ovary (6.9%), and lung (4.9%) in 2012. Increased life-expectancy and population growth as well as increased use of alcohol and increased prevalence of overweight/obesity reflected an increase in all cancers in both genders except a reduction in infection-related cancers such as cervix-uteri and tobacco-related cancers such as pharynx (excludes nasopharynx) and oesophagus.Interpretation & conclusionTransition in demographics and epidemiologic risk factors, reflected an increase in all cancers in both genders except a reduction in a few cancers. The increasing incidence of cancer and its associated factors demands a planned approach to reduce its burden. The burden assessment needs to be strengthened by increasing the population coverage of cancer registries. Continued effort for tobacco prevention and public health efforts for reducing obesity and alcohol consumption are needed to reduce the cancer burden.     

沙棘黄酮提取进展

沙棘黄酮是食药两用植物沙棘主要的保健与药用成分,具有重要的生理活性,能够清除体内的自由基,防治心血管疾病和抗衰老的作用。本文概述了国内外对沙棘资源的开发利用研究状况,综述了沙棘黄酮类化合物提取方法的最新研究进展,为充分利用沙棘资源和开发沙棘黄酮提供科学研究基础。