Sample records for jumeau acardiaque acephale

  1. Patients with acephalic spermatozoa syndrome linked to SUN5 mutations have a favorable pregnancy outcome from ICSI.

    PubMed

    Fang, Jianzheng; Zhang, Jingjing; Zhu, Fuxi; Yang, Xiaoyu; Cui, Yugui; Liu, Jiayin

    2018-01-10

    Are Sad1 and UNC84 domain containing 5 (SUN5) mutations associated with the outcomes of ICSI in patients with acephalic spermatozoa syndrome (ASS)? Despite highly abnormal sperm morphology, ASS patients with SUN5 mutations have a favorable pregnancy outcome following ICSI. ASS is a rare cause of infertility characterized by the production of a majority of headless spermatozoa, along with a small proportion of intact spermatozoa with an abnormal head-tail junction. Previous studies have demonstrated that SUN5 mutations may cause ASS. Several studies showed that ICSI could help patients with ASS father children. This retrospective cohort study included 11 infertile ASS males with SUN5 mutations. Five of them underwent five ICSI cycles. Their ICSI results were compared to men with ASS without SUN5 mutations (n = 3) and to men with multiple morphological abnormalities of the sperm flagella (MMAF) (n = 9). All ICSI treatments were completed between Jan 2011 and May 2017. Sanger DNA sequencing was used to detect mutations in SUN5. Clinical and biological data were collected from patients at the fertility center. Sanger sequencing validated 11 patients with SUN5 mutations. Three novel mutations in SUN5 (c.829C>T [p.Q277*]; c.1067G>A [p.R356H]; c.211+1 insGT [p.S71Cfs11*]) were identified in three patients. The rates of fertilization, good-quality embryos and pregnancy for five patients with SUN5 mutations following ICSI were 81.5%, 81.8% and 100%, respectively. The rates of fertilization and good-quality embryos in patients with MMAF were significantly lower compared with ASS patients (65.6 versus 82.4%, P = 0.039 and 53.6 versus 85.2%, P = 0.031, respectively). There were no differences in ICSI results between ASS patients with and without SUN5 mutations. Only a small number patients with SUN5 mutations was available because of its rare incidence. Patients with ASS can be effectively treated with ICSI. SUN5 mutations may be one of the genetic causes of ASS. This study

  2. Proliferating larval cestode in a man in Paraguay. A case report and review.

    PubMed

    Beaver, P C; Rolon, F A

    1981-05-01

    Large tumors removed from the lower abdomen and pleural cavity of a 24-year-old male Amerindian in Paraguay consisted mainly of multitudes of minute, proliferating, acephalic cestode larvae embedded in fibrous tissue. The parasite resembled Sparganum proliferum Stiles 1908 but was markedly less differentiated. From a review of the literature and examination of available reference material, it is concluded that in addition to the present one there are eight well documented cases of proliferating acephalic larval cestode infection in man: five in Japan and one in Florida (USA) that were S. proliferum, one in Pennsylvania (USA) that was an undifferentiated cysticercus or cysticercoid, and one in Taiwan that probably was an undifferentiated tetrathyridium. In four other cases the parasites are reclassified as being of doubtful nature in three and a racemose cysticercus in one. Review of the known species of proliferating cestode larvae naturally occurring in animals failed to identify possible sources of the acephalic forms observed in man.

  3. Spata6 is required for normal assembly of the sperm connecting piece and tight head–tail conjunction

    PubMed Central

    Yuan, Shuiqiao; Stratton, Clifford J.; Bao, Jianqiang; Zheng, Huili; Bhetwal, Bhupal P.; Yanagimachi, Ryuzo; Yan, Wei

    2015-01-01

    “Pinhead sperm,” or “acephalic sperm,” a type of human teratozoospermia, refers to the condition in which ejaculate contains mostly sperm flagella without heads. Family clustering and homogeneity of this syndrome suggests a genetic basis, but the causative genes remain largely unknown. Here we report that Spata6, an evolutionarily conserved testis-specific gene, encodes a protein required for formation of the segmented columns and the capitulum, two major structures of the sperm connecting piece essential for linking the developing flagellum to the head during late spermiogenesis. Inactivation of Spata6 in mice leads to acephalic spermatozoa and male sterility. Our proteomic analyses reveal that SPATA6 is involved in myosin-based microfilament transport through interaction with myosin subunits (e.g., MYL6). PMID:25605924

  4. Essential role for SUN5 in anchoring sperm head to the tail

    PubMed Central

    Wang, Lina; Ouyang, Ying-Chun; Dong, Ming-Zhe; Liu, Chao; Zhao, Haichao; Cui, Xiuhong; Ma, Dongyuan; Zhang, Zhiguo; Yang, Xiaoyu; Guo, Yueshuai; Liu, Feng; Yuan, Li

    2017-01-01

    SUN (Sad1 and UNC84 domain containing)-domain proteins are reported to reside on the nuclear membrane playing distinct roles in nuclear dynamics. SUN5 is a new member of the SUN family, with little knowledge regarding its function. Here, we generated Sun5−/− mice and found that male mice were infertile. Most Sun5-null spermatozoa displayed a globozoospermia-like phenotype but they were actually acephalic spermatozoa. Additional studies revealed that SUN5 was located in the neck of the spermatozoa, anchoring sperm head to the tail, and without functional SUN5 the sperm head to tail coupling apparatus was detached from nucleus during spermatid elongation. Finally, we found that healthy heterozygous offspring could be obtained via intracytoplasmic injection of Sun5-mutated sperm heads for both male mice and patients. Our studies reveal the essential role of SUN5 in anchoring sperm head to the tail and provide a promising way to treat this kind of acephalic spermatozoa-associated male infertility. PMID:28945193

  5. Two Forkhead transcription factors regulate the division of cardiac progenitor cells by a Polo-dependent pathway

    PubMed Central

    Ahmad, Shaad M.; Tansey, Terese R.; Busser, Brian W.; Nolte, Michael T.; Jeffries, Neal; Gisselbrecht, Stephen S.; Rusan, Nasser M.; Michelson, Alan M.

    2012-01-01

    SUMMARY The development of a complex organ requires the specification of appropriate numbers of each of its constituent cell types, as well as their proper differentiation and correct positioning relative to each other. During Drosophila cardiogenesis, all three of these processes are controlled by jumeau (jumu) and Checkpoint suppressor homologue (CHES-1-like), two genes encoding forkhead transcription factors that we discovered utilizing an integrated genetic, genomic and computational strategy for identifying genes expressed in the developing Drosophila heart. Both jumu and CHES-1-like are required during asymmetric cell division for the derivation of two distinct cardiac cell types from their mutual precursor, and in symmetric cell divisions that produce yet a third type of heart cell. jumu and CHES-1-like control the division of cardiac progenitors by regulating the activity of Polo, a kinase involved in multiple steps of mitosis. This pathway demonstrates how transcription factors integrate diverse developmental processes during organogenesis. PMID:22814603

  6. Comparative evaluation of the sperm characteristics and morphology of adult Wistar rats fed either low or normal protein-energy diets and orally dosed with aqueous Cuscuta australis extracts.

    PubMed

    Omirinde, J O; Ozegbe, P C; Oyeyemi, M O

    2014-06-19

    Cuscuta australis (C. australis) seed and stem are commonly used as dietary supplements in a maize-meal, "Ogi", by the local population for the management of male and female reproductive dysfunctions. This study, as a part of on-going efforts, therefore, evaluated and compared the effects of Low Protein-energy (LP) and Normal Protein-energy (NP) diets on the sperm morphology and characteristics of adult Wistar rats orally dosed aqueous extracts of C. australis seed (LPSE and NPSE) and stem (LPST and NPST), 300 mg of extract/kg body weight of rat/day, for seven days. The control groups (LPWA and NPWA) received vehicle, water. Live-dead ratio and percentage of sperms with curved tail were significantly decreased (p<0.01) in the NPST relative to the NPWA, LPWA, LPST, NPSE and LPSE. Total abnormal sperm counts, acephalic sperms and tailless head sperms were significantly decreased (p<0.001, p<0.05 and p<0.001, respectively) in the LPST and NPST relative to LPSE, NPSE, LPWA and NPWA. The LPSE, LPST and NPST showed significantly decreased (p<0.05) percentages of sperms with either bent mid-piece or curved mid-piece relative to the LPWA. Significantly decreased (p<0.05) percentage of sperms with curved mid-piece was also observed in the NPSE relative to LPWA. Protein-energy diet significantly influenced (at least p<0.05) the effect of each extract on sperm motility and percentage of sperms with curved tail. Stem extract significantly decreased (p<0.01) the percentages of acephalic sperms and tailless head sperms. Diet-stem extract interaction significantly influenced (p<0.05) live-dead ratio. Our data suggest that orally administered aqueous extracts of C. australis generally enhanced the sperm morphology and characteristics of the male Wistar rat and that the stem extract maintained sperm morphology better than the seed extract. It also showed that the stem extract decreased live-dead ratio and that the efficacy of orally administered aqueous C. australis stem extract

  7. An evolutionary model explaining the Neolithic transition from egalitarianism to leadership and despotism.

    PubMed

    Powers, Simon T; Lehmann, Laurent

    2014-09-22

    The Neolithic was marked by a transition from small and relatively egalitarian groups to much larger groups with increased stratification. But, the dynamics of this remain poorly understood. It is hard to see how despotism can arise without coercion, yet coercion could not easily have occurred in an egalitarian setting. Using a quantitative model of evolution in a patch-structured population, we demonstrate that the interaction between demographic and ecological factors can overcome this conundrum. We model the coevolution of individual preferences for hierarchy alongside the degree of despotism of leaders, and the dispersal preferences of followers. We show that voluntary leadership without coercion can evolve in small groups, when leaders help to solve coordination problems related to resource production. An example is coordinating construction of an irrigation system. Our model predicts that the transition to larger despotic groups will then occur when: (i) surplus resources lead to demographic expansion of groups, removing the viability of an acephalous niche in the same area and so locking individuals into hierarchy; (ii) high dispersal costs limit followers' ability to escape a despot. Empirical evidence suggests that these conditions were probably met, for the first time, during the subsistence intensification of the Neolithic. © 2014 The Author(s) Published by the Royal Society. All rights reserved.

  8. An evolutionary model explaining the Neolithic transition from egalitarianism to leadership and despotism

    PubMed Central

    Powers, Simon T.; Lehmann, Laurent

    2014-01-01

    The Neolithic was marked by a transition from small and relatively egalitarian groups to much larger groups with increased stratification. But, the dynamics of this remain poorly understood. It is hard to see how despotism can arise without coercion, yet coercion could not easily have occurred in an egalitarian setting. Using a quantitative model of evolution in a patch-structured population, we demonstrate that the interaction between demographic and ecological factors can overcome this conundrum. We model the coevolution of individual preferences for hierarchy alongside the degree of despotism of leaders, and the dispersal preferences of followers. We show that voluntary leadership without coercion can evolve in small groups, when leaders help to solve coordination problems related to resource production. An example is coordinating construction of an irrigation system. Our model predicts that the transition to larger despotic groups will then occur when: (i) surplus resources lead to demographic expansion of groups, removing the viability of an acephalous niche in the same area and so locking individuals into hierarchy; (ii) high dispersal costs limit followers' ability to escape a despot. Empirical evidence suggests that these conditions were probably met, for the first time, during the subsistence intensification of the Neolithic. PMID:25100704

  9. Use of a molecular approach for the definitive diagnosis of proliferative larval mesocestoidiasis in a cat.

    PubMed

    Jabbar, Abdul; Papini, Roberto; Ferrini, Nadia; Gasser, Robin B

    2012-10-01

    A 9 year-old male, neutered cat with a history of a sudden onset of lethargy, anorexia and respiratory distress was presented in a veterinary practice in Lucca, Italy. A clinical examination revealed that the cat was severely dehydrated, and had pale mucous membranes and tachypnoea. No pain or discomfort was detected at the time of physical examination. The cat was administered fluids, antibiotics and supportive therapy, but died overnight. The owner of the cat requested for a post mortem examination to be conducted. At necropsy, acephalic structures, consistent with proliferative tapeworm (cestode) larvae, were detected in the thoracic cavity on pleural surfaces. As these larvae could not be identified to genus or species by microscopy, a PCR-based sequencing-phylogenetic approach was used. Part of the cytochrome c oxidase subunit 1 gene was PCR-amplified from genomic DNAs from five individual larvae and sequenced; all five sequences obtained were identical. This consensus sequence was aligned (over 355 nucleotide positions) with homologous sequences representing a range of cestodes (including Echinococcus granulosus, Echinococcus multilocularis, Hymenolepis microstoma, Mesocestoides spp. and Taenia saginata) from previously published studies and then subjected to phylogenetic analysis. The sequence representing the larval cestode from the affected cat grouped, with strong statistical support, with those representing Mesocestoides corti and Mesocestoides lineatus. Therefore, a definitive diagnosis of pleural proliferative larval mesocestoidiasis could be made. This study illustrates the value of using molecular tools to directly assist clinical and pathological investigations of cestodiases of animals. Copyright © 2012 Elsevier B.V. All rights reserved.

  10. A comparative overview of the sperm centriolar complex in mammals and birds: Variations on a theme.

    PubMed

    Soley, John T

    2016-06-01

    This paper presents an overview of the structure, function and anomalies of the sperm centriolar complex (CC) on a comparative basis between mammals and birds. The information is based on selected references from the literature supplemented by original observations on spermiogenesis and sperm structure in disparate mammalian (cheetah and cane rat) and avian (ostrich, rhea and emu) species. Whereas the basic structure of the CC (a diplosome surrounded by pericentriolar material) is similar in Aves and Mammalia, certain differences are apparent. Centriole reduction does not generally occur in birds, but when present as in oscines, involves the loss of the proximal centriole. In ratites, the distal centriole forms the core of the entire midpiece and incorporates the outer dense fibres in addition to initiating axoneme formation. The elements of the connecting piece are not segmented in birds and less complex in basic design than in mammals. The functions of the various components of the CC appear to be similar in birds and mammals. Despite obvious differences in sperm head shape, the centrosomal anomalies afflicting both vertebrate groups demonstrate structural uniformity across species and display a similar range of defects. Most abnormalities result from defective migration and alignment of the CC relative to the nucleus. The most severe manifestation is that of acephalic sperm, while angled tail attachment, abaxial and multiflagellate sperm reflect additional defective forms. The stump-tail defect is not observed in birds. A comparison of defective sperm formation and centrosomal dysfunction at the molecular level is currently difficult owing to the paucity of relevant information on avian sperm. Copyright © 2016 Elsevier B.V. All rights reserved.

  11. Pleurodeles waltl, amphibian, Urodele, is a suitable biological model for embryological and physiological space experiments on a vertebrate

    NASA Astrophysics Data System (ADS)

    Gualandris-Parisot, L.; Husson, D.; Foulquier, F.; Kan, P.; Davet, J.; Aimar, C.; Dournon, C.; Duprat, A. M.

    2001-01-01

    Pleurodeles waltl (amphibian, Urodele) is an appropriate biological model for space experiments on a vertebrate. One reason for interest in this animal concerns the study of the effects of absence of gravity on embryonic development. First, after mating (on Earth) the females retain live, functional sperm in their cloacum for up to 5 months, allowing normal in vivo fertilisation after hormonal stimulation. Second, their development is slow, which allows analyses of all the key stages of ontogenesis from the oocyte to swimming tailbud embryos or larvae. We have performed detailed studies and analyses of the effects of weightlessness on amphibian Pleurodeles embryos, fertilised and allowed to develop until the swimming larvae stage. These experiments were performed in space during three missions on the MIR-station: FERTILE I, FERTILE II and NEUROGENESIS respectively in 1996, 1998 and 1999. We show that in microgravity abnormalities appeared at specific stages of development compared to 1g-centrifuge control embryos and 1g-ground control embryos. In this report we describe abnormalities occurring in the central nervous system. These modifications occur during the neurulation process (delay in the closure of the neural tube and failure of closure of this tube in the cephalic area) and at the early tailbud stage (microcephaly observed in 40% of the microgravity-embryos). However, if acephalic and microcephalic embryos are not taken into account, these abnormalities did not disturb further morphological, biochemical and functional development and the embryos were able to regulate and a majority of normal hatching and swimming larvae were obtained in weightlessness with a developmental time-course equivalent to that of 1g-centrifuge control embryos (on the MIR station) and 1g-ground control embryos.

  12. InSight/SEIS@Mars Educational program : Sharing the InSight NASA mission and the Seismic Discovery of Mars with a International Network of classes

    NASA Astrophysics Data System (ADS)

    Lognonne, P. H.; Berenguer, J. L.; Sauron, A.; Denton, P.; Carrer, D.; Taber, J.; Bravo, T. K.; Gaboriaud, A.; Houston Jones, J.; Banerdt, W. B.; Martinuzzi, J. M.

    2015-12-01

    The InSIght mission will deploy in September 2016 a Geophysical Station on Mars, equipped with a suite of geophysical instruments, including 3 axis Very Broad Band Seismometer, 3 axis Short Period Seismometer, 3 axis Flux gate Magnetometer, Heat flow probe, geodetic beacon, infrasound/microbarometer, wind sensors and cameras. As for all NASA missions, Children and teenagers will be associated to the mission in the framework of the K12 InSight program, part of it being associated to the SEIS instrument.The two faces of the InSight/SEIS Education program are directed toward the promotion of Space Technologies and of Space Science.For Space technologies, this has already started with the InSight Elysium Educational project. The goal of the project, supported by CNES and performed by Technical High School near Toulouse, was the fabrication of a full scale mockup of the lander (see more at https://jeunes.cnes.fr/fr/elysium-le-jumeau-terrestre-dinsight ). The mockup was exhibited during the June, 2015 Paris air show. More than 300 students participated to the Elysium project.For Space Science, this will be made with the SEIS@Mars Educational project. Its plan is to transmit the SEIS data to a network of several hundred of middle and high schools worldwide, associated to existing "seismo(graph) at school" programs in the United States (https://www.iris.edu/hq/sis), France (www.edusismo.org) Switzerland (www.seismoatschool.ethz.ch) and United Kingdom (http://www.bgs.ac.uk/schoolseismology/). If the transmission of these data to the SEIS@school network will be automatic after their release by the NASA Planetary Data System, an earlier transmission will be made, especially after mid 2017, but also before through the integration of selected Schools to the project activities: the selected classrooms will perform the same activities as the project scientists. They will have to process rapidly the proprietary data in order to identify MarsQuake(s) and will be allowed to perform