MÓZGOWE PODŁOŻE ROZWOJU MOWY W AUTYZMIE

Although in a majority of cases, autistic children face difficulties communicating verbally, the valid diagnostic classifi cations do not identify them as the main symptoms of the disorder. The adoption of such a position has been supported by results of (mainly behavioural) research, which imply that language and speech development in the autism spectrum disorder (ASD) is extremely variable and individually diversifi ed and the observed delay of its development is not unique to autism. On the other hand, the research conducted by means of neuroimaging methods shows that an atypical structure and activity of Broca’s and Wernicke’s areas, which are important for language processes, exist in the ASD. A weak structural and functional connectivity in the arcuate fasciculus, which connects these structures, has also been discovered. It is assumed that the changes arise from neurodevelopmental irregularities occurring at an early stage of foetal life and their causes are probably genetic. This study characterises speech development disorders and atypical brain development in autism referring to results of both behavioural and neuroimaging research.

“NOT AT HOME” !!!

A Bochdalek hernia is a posterior congenital defect of the diaphragm, usually on the left hemidiaphragm, caused by a lack of closure of the pleuroperitoneal canal between the eighth and tenth week of foetal life during the embryonic development. It typically presents in the neonatal period with severe respiratory failure. Incidental diagnosis in an asymptomatic patient presenting in adult life is rare. We report a case of an asymptomatic eighteen year old male who was incidentally discovered to have congenital diaphragmatic hernia when he was operated for testicular torsion on an emergency basis.

Initiation and early development of the postcanine deciduous dentition in the dasyurid marsupial Dasyurus viverrinus

There has been disagreement for more than 100 years concerning the presence or absence of deciduous and successional third premolars in the dentition of the Australian dasyurid marsupial Dasyurus viverrinus as well as in other species of the genus Dasyurus. Most authors during the 19th and 20th centuries have considered the missing premolar in Dasyurus to be the third premolar family in both jaws, in part because of the reduction in size of the third deciduous premolar in many other genera of dasyurids. While other authors, found “the deciduous premolar to be constantly present in the young mammary foetus as a small and precociously calcified vestigial tooth”. However, the fate of this deciduous tooth, and its possible successor in later developmental stages, was never described; and the vestigial dp3 and its possible successor were assumed to undergo absorption during foetal life. With access to later developmental stages of Dasyurus viverrinus, via the extensive collections of Professor J.P. Hill, we present new evidence for the later development of dP3 and P3 in both jaws, the probable eruption of the successional P3 in both jaws and evidence that dP2 is the missing tooth in both jaws of this dasyurid species.

Irreducible Hernia in Female Children Containing Ovary, Uterus or Uterine Adnexa: Case Series

Inguinal hernias are the most frequent hernias of childhood. They are relatively uncommon in females as compared to males. Congenital inguinal hernias are due to the failure of closure of processus vaginalis. In females, this usually obliterates around the eighth month of foetal life. When these remain patent, a rare but possible herniation of contents can occur through this, like the genito-urinary system, including the ovaries and sometimes the fallopian tubes. However, the occurrence of uterus as one of the contents is a rare entity. This is a case series of six such cases with various genital tract entities as contents in paediatric female inguinal hernia. In conclusion, the rare entity of uterus, uterine adnexae and ovaries being a content of inguinal hernia has to be kept in mind when treating female children.

Effect of Embryo Vitrification on the Steroid Biosynthesis of Liver Tissue in Rabbit Offspring

Preimplantation embryo manipulations during standard assisted reproductive technologies (ART) have significant repercussions on offspring. However, few studies to date have investigated the potential long-term outcomes associated with the vitrification procedure. Here, we performed an experiment to unravel the particular effects related to stress induced by embryo transfer and vitrification techniques on offspring phenotype from the foetal period through to prepuberal age, using a rabbit model. In addition, the focus was extended to the liver function at prepuberal age. We showed that, compared to naturally conceived animals (NC), offspring derived after embryo exposure to the transfer procedure (FT) or cryopreservation-transfer procedure (VT) exhibited variation in growth and body weight from foetal life to prepuberal age. Strikingly, we found a nonlinear relationship between FT and VT stressors, most of which were already present in the FT animals. Furthermore, we displayed evidence of variation in liver function at prepuberal age, most of which occurred in both FT and VT animals. The present major novel finding includes a significant alteration of the steroid biosynthesis profile. In summary, here we provide that embryonic manipulation during the vitrification process is linked with embryo phenotypic adaptation detected from foetal life to prepuberal age and suggests that this phenotypic variation may be associated, to a great extent, with the effect of embryo transfer.

Neural tube defects: how many cases could have been prevented in Portugal?

Neural tube defects (NTD) occurs when the neural tube does not close properly until the 28th day of foetal life. About 70% of NTD can be prevent if women start folic acid (FA) before pregnancy and until the end of 1st trimester. Portugal has this primary prevention since 1998, however the secondary prevention of NTD with TOPFA is still high (80%). The aim of this study is to describe when FA intake was started and estimate the number of cases that would have be prevented if FA intake started before pregnancy as recommended. A cross-sectional study using data from the National Registry of Congenital Anomalies between 2004-2017 was performed. The temporal evolution of the beginning of FA intake was analysed with Cochran-Armitage test for proportions. The proportion of preventable cases was estimated considering the 70% prevention fraction and the number of NTD cases registered in RENAC that occurred in pregnancies without the recommended FA supplementation. On average, 13.8% of all women started FA before pregnancy, 46.2% during 1st trimester and 6.1% did not take folic acid. A statistically significant trend (p < 0.001) was observed in the group that started before pregnancy with increase from 6.8% in 2004 to 17.9% in 2017. The prevalence of NTD was 4.2 cases / 10,000 births, ranging from 2 cases / 10,000 births (2007) to 7 cases / 10,000 births (2014). Between women who had a pregnancy with NTD, 16.8% started FA before pregnancy, 42.2% in the 1st trimester and 9.7% did not take the supplement. If all women had started FA before pregnancy, an estimated 202 NTD cases could have been prevented. In Portugal, the proportion of women who adhere to this measure is very low, similarly to other European countries, compromising the primary prevention of NTD. Perhaps due to the high percentage of TOPFA, the idea that this anomalies continue to affect our children has been lost. Primary prevention of NTDs should be encouraged with measures that promote FA supplementation. Key messages Primary prevention of NTD is possible. Proportion of women who adhere to primary prevention is low.

Abortion care as moral work

This article traces the history of moral arguments for abortion care. Prior to the legalization of abortion, clergy members and physicians who participated in the Clergy Consultation Service constructed a clear moral framework for abortion as they referred women to underground abortion services. With the legalization of abortion in 1973, supporters of legal abortion turned from arguments that articulated the morality of abortion to language that emphasized women’s privacy and rights. Moral arguments receded to the background, to be taken up by anti-abortion activists who argued that abortion was immoral. With the rise of the religious right, the stigma surrounding abortion increased significantly. Fearing that ending their pregnancy was immoral, patients frequently struggled with their abortion decision. Beginning in the 1990s, abortion clinics began to address questions of foetal life and death head-on. By doing so, they offered patients the opportunity to explore topics previously considered too politically sensitive—questions concerning the value of life, the meaning of foetal death, religious beliefs, and frameworks as they related to the abortion decision. Patients and abortion providers asserted that their decisions were moral decisions and drew on their religious beliefs to guide their choices in favour of abortion.