ITGB2 mutation combined with deleted ring 21 chromosome in a child with leukocyte adhesion deficiency

Leukocyte adhesion deficiency type 1(LAD-1) is a rare autosomal recessive primary immunodeficiency caused by defects in the ITGB2 gene located on chromosome 21q22. Clinically, LAD-1 patients are characterized by recurrent infections, slow wound healing and dystrophic scars after skin injuries, associated with persistent neutrophilia. The severity of symptoms is related to the level of CD11/CD18 expression on patients’ leucocytes and those with less than 1% expression treated with hematopoietic stem cell transplant (HSCT). We present a child affected by LAD-1 who received HSCT from a matched unrelated donor. Molecular analysis revealed apparent homozygosis for a point mutation in the ITGB2 gene, only the mother however was carrier of the mutation. Cytogenetic and FISH analysis showed the presence of a de-novo ring chromosome 21. Whole Genome Analysis with the Affymetrix GeneChip Human Mapping 250K NspI array confirmed in the child the presence of a de novo deletion of the chromosomal region 21q22.3-qter, where the ITGB2 gene maps. While HSCT resulted in successful engraftment and correction of the immunodeficiency, all the phenotypic features of ring (21) syndrome with a deletion of a 4.6Mb (including 69 genes) clearly remained unchange

Le Ciane, un collectif hybride dans le monde de la périnatalité

The "collectif interassociatif autour de la naissance, Ciane" brings together organisations with various backgrounds, resources and competencies; thanks to Internet coordination tools, it succeeded in articulating an expertise gained from experience of women and couples with a medico-scientific expertise. Thus, it took advantage of the diversity of its members to constitute a movement oriented towards policy action at large.Le collectif interassociatif autour de la naissance (Ciane) regroupe des associations dont les histoires, les ressources et les compétences sont variées ; grâce aux outils de coordination fournis par Internet, il a pu construire une articulation entre une expertise tirée de l'expérience des femmes et des couples et une expertise médicoscientifique. De cette manière, il a tiré partie de la diversité de ses membres pour constituer un mouvement original entièrement tourné vers l'action politique au sens large

Newsletter, 2012-01, no. 57

The newsletter contains both association business and material of interest to midwives and related health care workers.The Association's name has changed several times based on the newsletter: from January 1992 - January 1997 it was The Alliance of Nurse-Midwives, Maternity and Neonatal Nurses, dropping the "Nurse-" after July 1994; from March 1997 - September 2000 it was Newfoundland and Labrador Midwives Association, and the issue numbering was reset; and in January 2001 it became Association of Midwives of Newfoundland and Labrador

From Comunities of Practice to Epistemic Communities: Health Mobilizations on the Internet

This paper describes the emergence of new activist groups in the health sector, spinning off from internet discussion groups. In the first part, it shows how self-help discussion groups can be considered as communities of practice in which, partly thanks to the Internet media, collective learning activities result in the constitution of experiencial knowledge, the appropriation of exogenous sources of knowledge, including medical knoweldge and the articulation of these different sources of knowledge in some lay expertise. In the second part, it describes how activist groups might emerge from these discussion groups and develop specific modes of action drawing upon the forms of expertise constituted through the Internet groups. Activists groups together with self-help groups might form epistemic communities (Haas 1992), i.e. groups of experts engaged in a policy enterprise in which knowledge plays a major role : in the confrontation of health activists with professionals, the capacity to translate political claims into the langage of science appears as a condition to be (even) heard and be taken into consideration.Childbirth, Obstetrichs, Health, Internet, Discussion Groups, Activism, Epistemic Communities, Communities of Practice, Experiencial Knowledge, Scientific Knowledge

The psychological impact of COVID-19 pandemic on women’s mental health during pregnancy: a rapid evidence review

Background: The perinatal period is a particularly vulnerable period in women’s lives that implies significant physiological and psychological changes that can place women at higher risk for depression and anxiety symptoms. In addition, the ongoing pandemic of coronavirus disease 2019 (COVID-19) is likely to increase this vulnerability and the prevalence of mental health problems. This review aimed to investigate the existing literature on the psychological impact of the COVID-19 pandemic on women during pregnancy and the first year postpartum. Method: The literature search was conducted using the following databases: Pubmed, Scopus, WOS—web of science, PsycInfo and Google Scholar. Out of the total of 116 initially selected papers, 17 have been included in the final work, according to the inclusion criteria. Results: The reviewed contributions report a moderate to severe impact of the COVID-19 outbreak on the mental health of pregnant women, mainly in the form of a significant increase in depression—up to 58% in Spain—and anxiety symptoms—up to 72% in Canada. In addition to the common psychological symptoms, COVID-19-specific worries emerged with respect to its potential effects on pregnancy and the well-being of the unborn child. Social support and being engaged in regular physical activities appear to be protective factors able to buffer against the effects of the pandemic on maternal mental health. Conclusions: Despite the limitations of the study design, the evidence suggests that it is essential to provide appropriate psychological support to pregnant women during the emergency in order to protect their mental health and to minimize the risks of long-term effects on child development

Pelvic abscess complicating transvaginal oocyte retrieval: A case report from a public in vitro fertilization centre in Southern Nigeria

Pelvic abscess complicating transvaginal oocyte retrieval for in vitro fertilization is uncommon. Difficulties and/or delays in diagnosis,  attributable to the rarity of the pathology, are associated with  complications that lead to severe maternal and perinatality morbidity and mortality. In this report, we present a 37 year old nulliparous woman who underwent in vitro fertilization and embryo transfer for infertility treatment. She presented with non-specific symptoms of pelvic pain nine weeks after transvaginal oocyte retrieval for in vitro fertilization and embryo transfer. Despite antibiotic therapy, she developed acute abdomen that resulted in pregnancy loss and necessitated two laparotomies to save her life.There is need for high index of suspicion and early diagnoses of this rare complication of transvaginal oocyte retrieval particularly now that uptake of assisted reproduction technique in the treatment of infertility is likelyto increase in sub-Saharan Africa with the advent of public hospital involvement.Keywords: Pelvic abscess, transvaginal oocyte retrieval, in vitro fertilization

Evaluation of intersectoral collaborations : "Relevailles" and intersectoral collaborations. Brief Report.

HIGHLIGHTS • In 3 of the 4 cases, the key actor in the collaborative network was the OCF coordinator/liaison officer. • All the networks were vulnerable to the departure of a key actor. • Collaborative networks did not include any perinatal assistants. • 35 of the 37 HSSE actors involved in collaborative networks belonged to a local community services centre (CLSC), even when there was a birthing hospital or birthing centre in the HSSE. • Five determinants contributed to or constrained intersectoral collaborations between OCFs and HSSEs. • Sufficiency of resources, knowledge of the partner organization, and complementarity/flexibility in the delivery of services were determinants of collaborations. • Six modes of OCF/HSSE collaboration were identified. • There are few formal mechanisms for collaboration between organizations. • Disagreements/misunderstandings on the mechanisms for sharing information about families occurred between organizations and even within organizations. • Some parents perceived links between OCFs and CLSCs as falling into two modes of collaboration, namely 1) activating the request/recourse to partner organization services and 2) coordinating the services provided to families

From communities of Practice to Epistemic Communities: Health Mobilizations on the Internet

International audienceThis paper describes the emergence of new activist groups in the health sector, spinning off from internet discussion groups. In the first part, it shows how self-help discussion groups can be considered as communities of practice in which, partly thanks to the Internet media, collective learning activities result in the constitution of experiencial knowledge, the appropriation of exogenous sources of knowledge, including medical knoweldge and the articulation of these different sources of knowledge in some lay expertise. In the second part, it describes how activist groups might emerge from these discussion groups and develop specific modes of action drawing upon the forms of expertise constituted through the Internet groups. Activists groups together with self-help groups might form epistemic communities (Haas 1992), i.e. groups of experts engaged in a policy enterprise in which knowledge plays a major role : in the confrontation of health activists with professionals, the capacity to translate political claims into the langage of science appears as a condition to be (even) heard and be taken into consideration