A comparison of maternal age, sex ratio and associated anomalies among numerically aneuploid, structurally aneuploid and euploid holoprosencephaly

During the period January 1987-July 2003, 59 cases of perinatally detected holoprosencephaly (HPE) with cytogenetic results were identified among 97,306 deliveries at Mackay Memorial Hospital. Among these 59 cases with HPE, 25 had euploidy, 27 had numerical aneuploidy, and 7 had structural aneuploidy. In the euploid cases, the male:female sex ratio was 0.39:1, whereas in the aneuploid cases, the ratio was 1:1. The mean (+/-SD) maternal ages for numerical aneuploidy, structural aneuploidy, and euploidy were 33.0 +/- 5.1 years, 27.9 +/- 2.1 years, and 27.8 +/- 5.0 years, respectively. The frequencies of associated major structural anomalies other than craniofacial defects in the cases with numerical aneuploidy, structural aneuploidy, and euploidy were 85.7%, 0%, and 16%, respectively. The present study of HPE suggests that a female excess appears only in the euploid cases, and advanced maternal age and structural anomalies are more commonly associated with the numerically aneuploid cases than the structurally aneuploid and euploid cases.     

神经梅毒的诊断与治疗（附23例分析）

观察神经梅毒的临床特点,以提高对神经梅毒的诊断与治疗水平。回顾性分析哈尔滨医科大学附属第一医院2005年1月至2010年12月收治的23例神经梅毒患者的临床资料。神经梅毒患者男17例（73.9%）,女6例（26.1%）,男女比约为2.8∶1;年龄27~71岁,平均年龄43.1岁。本组首发症状：麻痹性痴呆（7例）、精神异常（3例）、急性脑梗死（3例）、癫痫（2例）、脊髓病变（2例）、颅高压（2例）、周围神经损害（2例）、脑神经损害（1例）、无症状性神经梅毒（1例）。23例患者血清及脑脊液快速血浆反应素实验及梅毒螺旋体血凝试验均呈阳性反应。颅脑电子计算机断层扫描（CT）和/或磁共振成像（MRI）检查多表现为额叶、顶叶、颞叶、基底节等多发病变。本组患者经大剂量青霉素治疗后病情有显著改善20例,死亡1例,自动出院2例。神经梅毒的临床表现复杂多样,神经系统各部位均可受累,诊断依靠病史及临床表现、实验室血清及脑脊液梅毒抗体检测,误诊率高,应早期诊断,诊断后应进行规范治疗,早期治疗效果较好。     

Système endocrine et physiologie de la diapause imaginale chez le criquet égyptien, Anacridium aegyptium

The Egyptian locust, Anacridium aegyptium, has four protocerebral neurosecretory centres: the A to B neurosecretory cells of the pars intercerebralis (the A cells are rich in fuchsinophil material and the B cells are devoid of fuchsinophil neurosecretion), the voluminous C neurosecretory cells poor in neurosecretion, and the median sub-ocellar neurosecretory cells.From September to the beginning of January, imaginal diapause is characterized by an accumulation of the median neurosecretion in the pars intercerebralis-corpora cardiaca system, by small corpora allata, and, in the female, by a stop in oöcyte development although the male's sexual activity is still not altered. Allatectomy suppresses neither the male's sexual behaviour nor its fecundity. From January, the increase of the photoperiod causes a release of the median neurosecretion in both sexes, an increase of the volume of the corpora allata, and breaks ovarian diapause.In autumn, the implantation of the male's or female's corpora allata of Anacridium does not stimulate ovarian growth of diapausing females. On the contrary, the implantation of corpora allata or of pars intercerebralis or of corpora cardiaca of Locusta migratoria migratorioides (locust without diapause) causes ovarian development of the diapausing females of Anacridium. Thus, in the two sexes of the Egyptian locust, the corpora allata are inactive during the female ovarian diapause. The imaginal diapause of Anacridium affects both sexes (stocking of median neurosecretion, arrest of the corpora allata). If diapause does not seem to affect the male's development, it is because its sexual activity is free from the pars intercerebralis and corpora allata.The corpora allata of Anacridium show a sexual dimorphism in the active adult: they are smaller in the male and have more mitosis in the female. An explanation of this dimorphism is advanced.     

Effect of melatonin and removal of pouch young on the seasonality of births in the marsupial possum, Trichosurus vulpecula

Melatonin implants were placed in 5 adult female possums during December. Births were observed from 31 March to 12 April in 4 control possums, and on 16 January, 1 and 6 February, 27 March and 27 April in the melatonin-treated animals. Melatonin would appear to have advanced the start of the breeding season in 3 of the 5 animals. Following removal of pouch young a subsequent birth is more likely to occur when young are removed early in the breeding season. These results would suggest that daylength may play a role in the initiation of the breeding season and the stimulus to mate diminishes from March through to September. Nevertheless, if the environmental conditions are favourable a secondary peak of births can occur in the later part of the year.     

Spirocamallanus cricotus (Nematoda): isoelectric focusing and spectrophotometric characterization of its hemoglobin and that of its piscine host, Micropogonias undulatus

The hemoglobins of Spirocamallanus cricotus, a reddish-colored, camallanid nematode, and its Atlantic croacker fish host, Micropogonias undulatus, were characterized with spectrophotometry and isoelectric focusing. Hemoglobin from female parasites' perienteric fluid and homogenized male parasites gave Spectrophotometric peaks at 412, 539, and 575 nm, whereas female worms drained of perienteric fluid and homogenized differed by having a Soret peak of 408 nm. Changing the ionic strength of the buffer from 0.1 to 0.01 M shifted the Soret peak to 406 nm for the female parasites' perienteric fluid and ground male parasites and 404 nm for homogenized female parasites. In all cases, the β band had a higher absorption than the α band suggesting a high O₂ affinity for the parasite hemoglobin. Host hemoglobin had peaks of 406, 437, and 577 nm. Isoelectric focusing not only confirmed the Spectrophotometric evidence that host and parasite hemoglobins differed, but also showed that the parasite's analyzed hemoglobin fractions differed from one another by having different isoelectric points.     

空心钉固定治疗骶骨骨折的临床疗效分析

目的:探讨空心钉固定治疗骶骨骨折的临床疗效及其安全性。方法:回顾性分析2010年1月至2013年1月骶骨骨折患者50例,其中男36例,女14例。按照Denis分类法,Ⅰ型22例,Ⅱ型14例,Ⅲ型14例,36例采用空心钉固定治疗,14例采用非手术保守治疗。结果:治疗后,根据Majeed评分标准进行评定,其中空心钉组优10例,良18例,可8例;非手术组优1例,良7例,可6例。全部患者经手术治疗后骨折均愈合,未出现断钉现象。结论:空心钉固定治疗骶骨骨折较保守治疗有更好的功能恢复及生活质量,空心钉固定具有术后恢复快,避免神经损伤,患者可尽早行功能锻炼,促进骨质愈合,改善患者预后,具有良好的临床疗效。     

The phenotype of 45,X/46,XY mosaicism: an analysis of 92 prenatally diagnosed cases.

We undertook an international survey of prenatally diagnosed 45,X/46,XY mosaicism to ascertain the phenotypic spectrum of this condition. Ninety-two cases were obtained by means of a questionnaire sent to over 730 cytogenetic laboratories. Seventy-six cases (75 males and 1 female) had physical examinations after delivery or termination of pregnancy. Among these, there were four significant genital anomalies: three hypospadias and one female with clitoromegaly. Gonadal histology was abnormal in three (27%) of 11 cases, all of whom had normal male external genitalia. Other anomalies were noted in five cases: one cystic hygroma in a male, two cardiac anomalies, one spina bifida with multiple other defects, and one intrauterine growth retardation. There was no relationship between the percent mosaicism and the presence or degree of abnormalities. We conclude that 95% of 45,X/46,XY fetuses will have normal male genitalia, although there will also be a significant risk (27%) for abnormal gonadal histology. Long-term follow-up studies of prenatally diagnosed cases of 45,X/46,XY mosaicism are needed to study, without ascertainment bias, stature, pubertal development, tumor risk, and fertility.     

血清生长激素水平与儿童单纯性肥胖伴身高略矮的关系

目的:探讨血清生长激素(growth hormone,GH)水平与儿童单纯性肥胖伴身高略矮的关系。方法:选择2013年1月~2013年11月27例在我院儿童保健科门诊就诊的被诊断为单纯性肥胖症的儿童,且其身高均小于同龄儿童平均身高5 cm以上,采用放射免疫法检测其血清生长激素水平,分析其生长激素水平的变化及其意义。结果:27例患儿化验结果显示生长激素完全缺乏者22例,部分缺乏5例。结论:生长激素缺乏可能是肥胖伴身高略矮儿童患肥胖症的重要原因,测定血清生长激素水平有助于了解肥胖伴身高略矮儿童体内生长激素水平从而应用于肥胖症的病因治疗。     

Isolation and Characterization of Dominant Female Sterile Mutations of Drosophila Melanogaster. I. Mutations on the Third Chromosome

Fifty-one dominant female sterile (Fs) mutations linked to the third chromosome of Drosophila melanogaster are described. EMS induced Fs mutations arise with the frequency of one Fs per about 2500 recessive lethals. Complementation analysis of the revertants showed that these Fs mutations represent 27-34 loci, about 60% of the third chromosome units mutable to dominant female sterility by EMS. The Fs mutations were mapped on the basis of mitotic recombination induced in the female (in 16 cases also in the male) germ-line. Behavior of the revertants and the Fs+ germ-line clones demonstrate the gain-of-function nature of the Fs alleles. With two exceptions, the Fs(3) mutations are germ-line dependent. Novel phenotypes appeared in most of the Fs mutations. With eight exceptions, the Fs(3) mutations are fully penetrant, in some cases with variable expressivity. One of the Fs(3) mutations is a non-ovary-dependent egg retention mutation, two others alter egg shape, and 27 bring about arrest in development at about the time of fertilization. In 21 of the Fs(3) mutations embryos develop to the larval stage of differentiation; this group includes 5 new alleles of Toll and 4 of easter.     

皮纹密度的初步研究

本文对ab、ad、td、Δatd四种皮纹密度进行了初步分析与研究,结果表明,四种皮纹密度有明显的年龄差异,其性别差异随年龄增大而明显,左右手差异随年龄的增大而减弱。四种皮纹密度与七项测量性特征呈不同程度与性质的相关。     

MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin

Rett syndrome (RTT) is an X-linked neurodevelopmental disorder that apparently is lethal in male embryos. RTT almost exclusively affects female offspring and, in 99.5% of all cases, is sporadic and due to de novo mutations in the MECP2 gene. Familial cases of RTT are rare and are due to X-chromosomal inheritance from a carrier mother. We analyzed the parental origin of MECP2 mutations in sporadic cases of RTT, by analysis of linkage between the mutation in the MECP2 gene and intronic polymorphisms in 27 families with 15 different mutations, and we found a high predominance of mutations of paternal origin in 26 of 27 cases (P<.001). The paternal origin was independent of type of mutation and was found for single-base exchanges as well as for deletions. Parents were not of especially advanced age. We conclude that de novo mutations in RTT occur almost exclusively on the paternally derived X chromosome and that this is most probably the cause for the high female:male ratio observed in patients with RTT. Affected males recently have been described in a few cases of familial inheritance. Identification of the parental origin may be useful to distinguish between the sporadic form of RTT and a potentially familial form. This distinction will allow geneticists to offer more-specific counseling and discriminate between higher (maternal origin) and lower (paternal origin) recurrence risk.     

Attacks on a wild infant ring-tailed lemur (Lemur catta) by immigrant males at Berenty, Madagascar: interpreting infanticide by males

An orphaned infant ring-tailed lemur (Lemur catta) was attacked persistently by immigrant males and disappeared with severe wounds at Berenty Reserve, Madagascar. Prior to the attacks, two troop members disappeared. On 20 November 1998, the only resident male in Troop C2B disappeared suddenly. After the disappearance, nine males from three neighboring troops approached, but only six males continued to shadow the troop. Of the females, the one lactating female attacked the males the most frequently. On 21 January 1999, the lactating female disappeared and her infant was orphaned. Subsequently, five attacks on the infant by immigrant males were observed for five consecutive days from January 23 to 27. The aggression was persistent and specifically targeted the infant, suggesting that the attacks were purposeful aggression, rather than redirected or accidental aggression. The primary attacker was the most dominant of the immigrant males, and mated with females in the next mating season.     

Classical polyandry found in the three-toed woodpecker Picoides tridactylus

We report two cases of simultaneous, social polyandry in the three-toed woodpecker Picoides tridactylus found in Berchtesgaden National Park, Germany during an 11-year study. The first case was between two neighbouring pairs in 2003. A female incubated both of her clutches during a period of at least 8 days. The second case was in 2004 between a widowed male and a female of a neighbouring pair. This time, a female divided parental care between her two clutches during a period of at least 27 days. We hypothesise that social polyandry in the three-toed woodpecker may be linked to the parental quality of the first male.     

Intraspecific killing among Leopards (Panthera pardus) in Iran (Mammalia: Felidae)

Intraspecific aggression is one of the most common causes of death in leopards. Here, we report four cases of intraspecific killing amongst Persian Leopards (Panthera pardus saxicolor) in Iran. A young male leopard was found on 7 June 2008 which, according to camera trap images, had been killed by an adult male over a Red Deer (Cervus elaphus) kill, with trauma to his neck in Dorfak No-Hunting Area. A young female that had been fitted with a satellite GPS collar on 6 December 2015 in Tandoureh National Park died on 29 January 2016 at a site where an Urial Sheep (Ovis orientalis) ram had been freshly killed. Necropsy results, footprints at the scene of death and camera trap footage all supported the deduction that the animal was killed by a larger female leopard at the kill site. On 13 January 2017, a young, partially eaten female leopard was found with double puncture on the side of her throat. Finally, a rehabilitated adult female fitted with a satellite GPS collar found on 19 December 2017 with a double puncture on her head with several trauma and haemorrhages on her back. These instances seem to be the first documented reports of intraspecific killing among free-ranging leopards in Asia.     

142例支气管肺泡灌洗液真菌免疫荧光染色检测结果与G/GM试验结果对比分析

目的探讨真菌免疫荧光染色检测支气管肺泡灌洗液(brondioalveolar lavage fluid,BALF)在肺部真菌感染诊断中的意义。方法对2019年1月至12月送检至本所的142例BALF标本进行G/GM试验及真菌免疫荧光染色检测。结果142例BALF中免疫荧光染色检测阳性为52例(占36.62%),G试验同时阳性者为49例,GM试验同时阳性者为11例。免疫荧光染色检测阳性例数与KOH湿片镜检阳性27例(占19.01%)比较检出率明显提高。结论真菌免疫荧光染色检测作为一种快速方便高效直观的真菌常规检测方法,是BALF标本中真菌检测的1个重要补充,为临床肺部真菌感染的诊断提供了1种快速检测方法。     

946例头癣病因及发病趋势分析

目的 了解我国华东地区近18年头癣趋势及病原菌分布情况.方法 采用回顾性分析方法 对1993年1月～2010年12月在我院皮肤科门诊诊治的华东地区的头癣患者进行分析.结果 946例头癣患者,男410例,女536例;年龄20d～93岁;784例真菌培养阳性患者中,白癣473例、黑癣216例、脓癣94例、黄癣1例.主要病原菌为羊毛状小孢子菌470株、紫色毛癣菌154株、断发毛癣菌81株.其中,培养出亲人性皮肤癣菌(紫色毛癣菌32例、断发毛癣菌12例、红色毛癣菌8例)的头癣患者与各种动物有密切接触史.本研究显示头癣发病率2001年达高峰之后逐渐下降,但于2010年又出现新的上升趋势.结论 我国华东地区头癣患者中自癣发病率占首位,其主要致病菌为羊毛状小孢子菌.培养出亲人性皮肤癣菌的头癣患者与各种动物有密切接触,提示亲人性皮肤癣菌在人与动物之间有互相传染的现象.2010年新的上升趋势值得我们关注.     

锁定加压钢板行微创技术治疗老年性股骨远端骨折临床疗效分析

目的:评价用锁定加压钢板行微创技术治疗老年性股骨远端骨折的临床疗效。方法:自2012年1月到2015年6月间,我院用锁定加压钢板行微创技术治疗27例60岁以上老年性股骨远端骨折患者(其中1例为双侧),通过观察患者伤口愈合情况、骨折愈合情况及相关并发症,并采用Kolmert评分标准评价其临床效果。结果:本组27例患者均获得随访,其中1例患者(单侧)在术后25 d死亡,其余病例随访6-30月,平均14.7月,术后切口有1例延迟愈合,余均一期愈合,骨折在末次随访均骨性愈合,未见骨折移位、内固定物失效、骨折畸形愈合、骨折不愈合等不良并发症,根据Kolmert评分标准,优10例,良13例,可3例,差1例,优良率为85%。结论:锁定加压钢板行微创技术治疗老年性股骨远端骨折可达到固定牢固、能早期功能练习、术后并发症少、术后效果满意的疗效。     

Hydroxycinnamoyl acid amides and aromatic amines in the inflorescences of some araceae species

Hydroxycinnamoyl acid amides (HCA's) were found to be important components in the inflorescences of different Araceae species. HCA's occurred in large amount in spathes and in the male and female flowers, and were totally absent from the sterile flowers, commonly found on Araceae spadices. Differences in the distribution of HCA's were noted between male and female flowers. Thus the amount of neutral HCA's was always greater in the male than in the female flowers and the female flowers generally contained more basic HCA'S. In the inflorescences of some Araceae species in the Monsteroideae and Philodendroideae (genera Monstera, Raphidophora and Philodendron), the aromatic amines tyramine and dopamine were very abundant, with concentrations ranging from 1 to 4 mg of each amine per g fr. wt.     

The COVID-19 outbreak in Sichuan,China: Epidemiology and impact of interventions

In January 2020, a COVID-19 outbreak was detected in Sichuan Province of China. Six weeks later, the outbreak was successfully contained. The aim of this work is to characterize the epidemiology of the Sichuan outbreak and estimate the impact of interventions in limiting SARS-CoV-2 transmission. We analyzed patient records for all laboratory-confirmed cases reported in the province for the period of January 21 to March 16, 2020. To estimate the basic and daily reproduction numbers, we used a Bayesian framework. In addition, we estimated the number of cases averted by the implemented control strategies. The outbreak resulted in 539 confirmed cases, lasted less than two months, and no further local transmission was detected after February 27. The median age of local cases was 8 years older than that of imported cases. We estimated R₀ at 2.4 (95% CI: 1.6–3.7). The epidemic was self-sustained for about 3 weeks before going below the epidemic threshold 3 days after the declaration of a public health emergency by Sichuan authorities. Our findings indicate that, were the control measures be adopted four weeks later, the epidemic could have lasted 49 days longer (95% CI: 31–68 days), causing 9,216 more cases (95% CI: 1,317–25,545).