A proposed mechanism for intermediate atresia ani (AA), based on a porcine case of AA and hypospadias

BACKGROUND: Atresia Ani (AA) is one of the most common malformations of the lower gastrointestinal tract. It occurs in 1 in 1500 to 1 in 5000 human births. These patients suffer physically and psychologically from this disorder, and thus there is a research interest in the condition. There are 3 subcategories of AA: high, intermediate, and low. Each of these forms is likely related to separate etiological processes. METHODS: An anatomical study was performed on a porcine case of AA with a urorectal fistula and malformed urethra. RESULTS: This animal was found to have the intermediate form of AA. CONCLUSIONS: A new mechanism is hypothesized, distinct from that described for the high and low forms of AA. This proposed mechanism involves the persistence of the cloacal membrane. Evidence to support this hypothesis includes: location of the urorectal fistula in the region of the embryonic cloacal duct, the lack of anomalies usually seen in conjunction with AA associated with mutations of the Sonic Hedgehog gene, and the presence of a malformed urethra, which is significantly correlated to intermediate AA. This form of AA could be related to a failure of the cloacal membrane to break down at the appropriate time during urorectal separation.     

Metabolic profiling of mango cultivars to identify biomarkers for resistance against Fusarium infection

Infection of mango panicles and young leaf shoots by Fusarium results in significantly lower fruit yields. Some mango cultivars are known to be tolerant to blossom malformation, while others are highly susceptible. Previous researchers linked the ability of certain cultivars to confine Fusarium infection to the production of high levels of mangiferin. This study further elucidates the role of phenolic metabolites contributing to tolerance. Phenolic profiles of mature leaf extracts from cultivars with varying degrees of resistance to Fusarium infection were obtained by ultrahigh performance liquid chromatography–time-of-flight-mass detection. Chemometric models constructed from the data revealed a clear distinction between the profiles of tolerant and susceptible cultivars and permitted the identification of biomarkers associated with susceptibility to infection. The presence of elevated levels of mangiferin, maclurin and maclurin O-galloyl-glucoside in the leaves were associated with a higher degree of tolerance. In contrast, high levels of iriflophenone glucosides were linked to increased susceptibility of the cultivars to infection. These models can serve as an important tool to investigate appropriate cultivars, prior to their introduction to areas prone to the disease.     

Nutrient levels in malformed and healthy tissues of mango (Mangifera indica L.)

Samples of malformed and healthy panicles of mango (Mangifera indica L.) as well as leaves and shoots bearing them were collected at different stages of development (fully swollen buds, bud inception, fully grown panicles prior to full bloom and at full bloom) over two consecutive years and were analysed for their macro- and micronutrient status. In addition, malformed and healthy seedlings were collected and analysed. Malformed panicles were found to be significantly higher in N at all the developmental stages except at bud inception. Phosphorus and K also tended to accumulate in malformed panicles at later stages of their development. In general, malformed panicles exhibited lower levels of P, K and Ca than healthy panicles. The differences in levels of Mg and S in malformed and healthy panicles were not significant. All micronutrients were in much lower concentrations in malformed panicles except for Mn which appears to accumulate in malformed panicles particularly at the early stages of development. The leaves on the shoots bearing malformed panicles also showed a tendency to accumulate N, while P, Mg and S were always higher in leaves on shoots bearing healthy panicles. The leaves on shoots bearing healthy panicles had lower levels of Fe, Cu and Mn, whereas levels of Zn and B tended to be higher in leaves on shoots bearing malformed panicles. The nutrient concentration differences between the two kinds of shoots were generally nonsignificant (P=0.05), except for K and S which were significantly lower in shoots bearing malformed panicles. The shoots bearing malformed panicles showed significantly (P=0.05) higher levels of almost all nutrients compared with shoots bearing healthy panicles. Vegetative malformation was found to be associated significantly (p=0.05) with higher amounts of all nutrients except Ca which was significantly higher in healthy seedlings. The present study, therefore, seems to point to lower Ca as one of the pre-disposing factors causing malformation in mango.A part of Ph.D. thesis of the senior author.A part of Ph.D. thesis of the senior author.     

枕大孔区减压环枕筋膜松解术治疗CMⅠ-SM的疗效分析

目的：回顾分析枕大孔区减压环枕筋膜松解术治疗Chiari畸形Ⅰ型合并脊髓空洞症（CMⅠ—SM）的疗效及其适应症。方法：随访71例行枕大孔区减压环枕筋膜松解术治疗的CMⅠ-SM患者,回顾手术疗效,利用多因素Logistic回归分析探讨病程时间（A）、是否伴有后颅窝畸形（B）、是否有增厚的环枕筋膜（C）及减压后脑脊液搏动情况（D）与疗效的关系,继而推断枕大孔区减压环枕筋膜松解术的适应症。结果：本组患者症状改善49例,占73．1％;稳定15例,占22.4％;恶化3例,占4．5％。A、B与疗效不具有统计学意义;C、D与疗效具有统计学意义。结论：枕大孔区减压环枕筋膜松解术是治疗CMⅠ-SM较为合理的术式;术中观察有增厚的环枕筋膜和（或）减压后脑脊液搏动改善良好可作为选择该术式的适应症。     

First record of a dicephalic specimen of tope Galeorhinus galeus (Elasmobranchii: Triakidae)

The first case of dicephalia in tope Galeorhinus galeus analysed in developing foetuses removed from a pregnant female caught off the Mar del Plata coastal waters, Argentine Sea, is reported here.     

枕大孔区减压环枕筋膜松解术治疗CMⅠ-SM 的疗效分析

目的:回顾分析枕大孔区减压环枕筋膜松解术治疗Chiari畸形Ⅰ型合并脊髓空洞症(CMⅠ-SM)的疗效及其适应症。方法:随访71例行枕大孔区减压环枕筋膜松解术治疗的CMⅠ-SM患者,回顾手术疗效,利用多因素Logistic回归分析探讨病程时间(A)、是否伴有后颅窝畸形(B)、是否有增厚的环枕筋膜(C)及减压后脑脊液搏动情况(D)与疗效的关系,继而推断枕大孔区减压环枕筋膜松解术的适应症。结果:本组患者症状改善49例,占73.1%;稳定15例,占22.4%;恶化3例,占4.5%。A、B与疗效不具有统计学意义;C、D与疗效具有统计学意义。结论:枕大孔区减压环枕筋膜松解术是治疗CMⅠ-SM较为合理的术式;术中观察有增厚的环枕筋膜和(或)减压后脑脊液搏动改善良好可作为选择该术式的适应症。     

紫外线对黑尾果蝇的生物学效应

野生型黑尾果蝇经紫外线连续处理3代,随着照射时间延长,每代均表现显著的生物学效应。这些生物学效应主要是子代数量减少,羽化延续时间缩短,体重减轻,而且有致略效应和间接的诱变效应。但处理后的子代性别比例变化不大。     

Crater defect in human spermatozoa

This report describes the “crater defect” in human spermatozoa, a malformation that consists of a nuclear and acrosomal invagination present in 100% of the cells, whereas tail structure and motility are fairly normal. The defect occurs during spermiogenesis. A possible concomitance with abnormalities in the microtubular apparatus involved in the sperm molding is discussed.     

Cancer Risks in Parents Who had a Child with a Congenital Malformation

Cancer risk in parents may be related to congenital malformations (CMs) in their children if they share genetic susceptibility or environmental exposure that may be teratogenic and carcinogenic. We conducted a population‐based cohort study based on Danish register data. We identified 795,607 mothers and 781,424 fathers who had all their children between 1977 and 2007 in Denmark. Information on CM was obtained from the Danish Hospital Registry and information on cancer was obtained from the Danish Cancer Registry. Parents were followed from the birth of their first child until the diagnosis of cancer, death, emigration, or December 31, 2007. We used Cox regression models to estimate hazard ratios (HRs) for cancer including cancer in specific organs in mothers and fathers. Overall, 75,701 (9.5%) mothers and 72,724 (9.3%) fathers had at least one child diagnosed with CMs within the first year of life. Neither mothers (HR = 1.04; 95% CI: 0.99–1.04) nor fathers (HR = 1.03; 95% CI: 0.98–1.09) who had a child with a CM had a higher overall risk of cancer. Mothers (HR = 0.76, 95% CI: 0.58–1.00) or fathers (HR = 0.89, 95% CI: 0.66–1.19) who had a child with a chromosomal malformation had a lower overall cancer risk. The findings also showed a higher risk for some specific types of cancer in parents who had children with a CM in the specific system. Some, or perhaps all, of these findings may be due to chance caused by multiple comparisons. We present all results on paper or online to provide clues for further research and to avoid publication bias.     

First record of dicephalia in a bull shark Carcharhinus leucas (Chondrichthyes: Carcharhinidae) foetus from the Gulf of Mexico,U.S.A.

The first recorded incidence of dicephalia in a bull shark Carcharhinus leucas is reported from a foetus collected by a fisherman in the Gulf of Mexico near Florida, U.S.A. External examination, Radiography and magnetic resonance imaging revealed a case of monosomic dicephalia where the axial skeleton and internal organs were found to divide into parallel systems anterior to the pectoral girdle resulting in two well‐developed heads.     

Combined chemotherapy and teratogenicity

BACKGROUND: The concomitant occurrence of breast cancer and pregnancy is relatively uncommon. We report the case of a patient with syndactyly, cleft hands, and absence of distal finger phalanges associated with maternal exposure to chemotherapeutic agents during the first trimester of pregnancy. These associations have not been previously described. CASE: The patient was born by normal delivery after 38 weeks of pregnancy. His mother became pregnant while receiving chemotherapy (cyclophosphamide, 5-fluorouracil, and adriamycin) for breast cancer, and the fetus was exposed to these drugs from conception to the 16th week of pregnancy. At birth, anomalies were observed, including a high-arched palate, microcephaly, a flat nasal bridge, bilateral syndactyly in the first and second fingers with a hand cleft between the second and third fingers and hypoplasia of the fifth fingers, and dystrophic nail of the fourth finger of the left hand. The patient's growth and development were deficient. CONCLUSIONS: The malformations associated with in utero exposure to these chemotherapeutic agents are highly variable, but growth deficiency and anomalies of the craniofacial region and limbs are the most common. The pattern of malformations in children who were congenitally exposed to chemotherapeutic agents appears to be directly related to the age at and duration of exposure, rather than to the specific drug itself. Effective contraception is essential for the safe use of a potential teratogen in nonpregnant women of reproductive age.     

Six1基因与听觉系统发生及疾病的关系

同源异形框基因Six1与哺乳动物多种器官发育有关,近年来随着分子生物学研究技术的进步,研究表明Six1与听觉系统的发生、分化及疾病关系密切。本文主要综述Six1在耳发育中的作用和Six1与耳相关疾病的关系研究进展。     

Chiari畸形合并脊髓空洞症的诊疗进展

Chiari畸形(Chiari malformation)是一种以小脑扁桃体下疝入枕骨大孔为特征的先天性畸形,脊髓空洞症(syringomyelia)是该病最常见的并发症,其诊断主要依赖于MRI。目前,对于该病的病因、监测手段、随访条件以及治疗方法等,专家们还未能达成共识。根据Chiari畸形解剖上的异常将其分为四型,分型有利于术式的选择,尽管关于分型的争议较多,但Hans Chiari分型仍最普遍被临床广为接受和应用。Chiari畸形临床表现多变,根据常见主要症状及体征大体可分为四种类型。手术是治疗Chiari畸形合并脊髓空洞症的唯一有效方法,针对不同病情采用后颅窝减压术、小脑扁桃体切除及枕大池重建术、脊髓空洞分流术等,大部分患者的症状和体征可以得到改善。随着手术方法的不断改进,Chiari畸形合并脊髓空洞的治疗会得到比较理想的效果。     

胎儿畸形480例的超声诊断分析

目的：探讨超声检查发现胎儿先天发育异常的规律及诊断价值。方法：随机选择480例经产后及引产后证实的单胎妊娠的畸形胎儿,回顾性分析产前的超声检查资料,孕妇平均年龄27．6岁,平均孕周27．1周。超声诊断畸形儿统计标准：参照《中国出生缺陷监测报告卡》的监测类型和《临床技术操作规范（超声医学分册）》的检测畸形类型确定。结果：459例为经超声检出的胎儿先天畸形,21例为超声漏诊,根据胎儿出生后情况反馈为畸形。459例畸形胎儿,孕周在12-40周,其中24．4％（112／459）的病例是在18-24孕周之间检出,56．9％（261／459）的病例是在12—28孕周之间检出,其中24周检出病例数最多（42／459）。35．7％（164／459）的胎儿畸形是在孕28-36周期间检出。结论：超声对胎儿畸形的诊断符合率为95．62％（459／480）。妊娠28周前超声能检出大多数可检的胎儿畸形。超声在胎儿产前诊断上具有极高的诊断价值,诊断率高,无损伤性,操作简便,重复性强。     

Development of a congenitally malformed Japanese monkey in a free-ranging group during the first four years of life

A malformed male Japanese monkey completely lacking both hands was observed in a free-ranging situation to four years of age. He developed a locomotor pattern appropriate to his deformity, namely, bipedal walking on hind legs. He maintained a stronger bond with his mother than did normal same-aged male monkeys and retained the same high dominance ranking order as his mother. He did not show peripheralization as did normal juvenile monkeys. No social disadvantages based on his physical deficiencies were observed at least until the end of his fourth year of life.     

Probable case of Binder syndrome in a skeleton from Quarai,New Mexico

Binder syndrome (maxillonasal dysplasia) is a not uncommon disorder reported in the clinical literature and is characterized by hypoplastic development of the midface. An extensive review of the paleopathology literature did not reveal any examples of Binder syndrome. In this paper, a probable case of Binder syndrome in a female skeleton, 16-17 years at age of death, from Quarai, New Mexico (ca. AD 1375-1450) is presented. This case was identified during standard documentation prior to repatriation at the National Museum of Natural History, Smithsonian Institution.The skull of this individual (381243) exhibits unusual facial features, including an underdeveloped midface, flattened glabella, absent nasal spine, and apparent alveolar prognathism, in addition to a vertebral anomaly. All of these characteristics are consistent with skeletal dysmorphologies associated with Binder syndrome. Measurements of the Quarai skull are compared with published data on Binder patients and normal control groups in order to quantify the nature of the observed morphology. Univariate analysis of craniometric/cephalometric data provides further support for a diagnosis of Binder syndrome, as critical measurements on the Quarai skull are consistent with those reported in Binder patients and significantly different from those reported for normal control groups. In addition to presenting a probable prehistoric case of Binder syndrome, this paper demonstrates the applicability of using direct comparisons of clinical data to help identify unusual conditions in skeletal remains.     

H2O2 induces abnormal tail flexure in Xenopus embryos: similarities with Paraquat teratogenic effects

BACKGROUND: As previously shown, Paraquat (PQ) treatments of Xenopus developing embryos mainly induce a characteristic developmental alteration we named "abnormal tail flexure." PQ oxidative activity has been indicated as the cause of this malformation. Since PQ evokes reactive oxygen species (ROS), among which hydroxyl radicals (OH(*)), and H(2)O(2) can be converted to (OH(*)) via Fenton reaction, we compared here the lethal and teratogenic potentials of both oxidants by using the Frog Embryo Teratogenesis Assay-Xenopus (FETAX), in order to grasp eventual similarities in their teratogenic activity. METHODS: Xenopus embryos were exposed, from stage 8 to stage 47, at 368, 491, 612, and 735 microM H(2)O(2) and 0.388 microM PQ. The probit analysis of H(2)O(2) mortality and malformed larva percents gave a 598.82 microM Lethal Concentration 50% (LC(50)) and 536.04 microM Teratogenic Concentration 50% (TC(50)) from which a 1.11 Teratogenic Index (T.I.) has been calculated. This T.I. value should allow the classification of H(2)O(2) as a non-teratogenic compound. RESULTS: A comparison of H(2)O(2) mortality and malformed larva percents with those obtained from PQ exposure showed the higher embryotoxicity of PQ, but, markedly, both compounds mainly induced the "abnormal tail flexure." Histological analysis of both H(2)O(2) and PQ malformed embryo tails showed a similar distorted morphology of both somites and myocytes. Some of muscle cells were necrotic and affected by an apical enlargement as well as a detachment from the connective tissue of intersomitic boundaries. CONCLUSIONS: In our opinion, both of the tested chemicals likely weaken the mechanical bridge connecting the myocyte contractile apparatus to the extracellular matrix, therefore causing the detachment of some of tail myocytes from their connectival septum as well as their apical enlargement. This could lead to the unbalance of tail tensional forces and, in turn, to the appearance of the "abnormal tail flexure."     

Ectrodactyly/split hand feet malformation

Split-hand/split-foot malformation is a rare limb malformation with median clefts of the hands and feet and aplasia/hypoplasia of the phalanges, metacarpals and metatarsals. When present as an isolated anomaly, it is usually inherited as an autosomal dominant form. We report a case of autosomal recessive inheritance and discuss the antenatal diagnosis, genetic counseling and treatment for the malformation.