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The expression of the Huntingtin protein, well known for its involvement in the neurodegenerative Huntington's disease, has been confirmed in skeletal muscle. The impact of HTT deficiency was studied in human skeletal muscle cell lines and in a mouse model with inducible and muscle-specific HTT deletion. Characterization of calcium fluxes in the knock-out cell lines demonstrated a reduction in excitation-contraction (EC) coupling, related to an alteration in the coupling between the dihydropyridine receptor and the ryanodine receptor, and an increase in the amount of calcium stored within the sarcoplasmic reticulum, linked to the hyperactivity of store-operated calcium entry (SOCE). Immunoprecipitation experiments demonstrated an association of HTT with junctophilin 1 (JPH1) and stromal interaction molecule 1 (STIM1), both providing clues on the functional effects of HTT deletion on calcium fluxes. Characterization of muscle strength and muscle anatomy of the muscle-specific HTT-KO mice demonstrated that HTT deletion induced moderate muscle weakness and mild muscle atrophy associated with histological abnormalities, similar to the phenotype observed in tubular aggregate myopathy. Altogether, this study points toward the hypotheses of the involvement of HTT in EC coupling via its interaction with JPH1, and on SOCE via its interaction with JPH1 and/or STIM1., (© 2022 Chivet et al.)

We report findings from a male fetus of 26 weeks' gestational age with severe isolated intrauterine growth restriction (IUGR). Chromosomal microarray analysis (CMA) on amniotic fluid cells revealed a 1.06-Mb duplication in 19q13.42 inherited from the healthy father. This duplication contains 34 genes including ZNF331, a gene encoding a zinc-finger protein specifically imprinted (paternally expressed) in the placenta. Study of the ZNF331 promoter by methylation-specific-multiplex ligation-dependent probe amplification showed that the duplicated allele was not methylated in the fetus unlike in the father's genome, suggesting both copies of the ZNF331 gene are expressed in the fetus. The anti-ZNF331 immunohistochemical analysis confirmed that ZNF331 was expressed at higher levels in renal and placental tissues from this fetus compared to controls. Interestingly, ZNF331 expression levels in the placenta have previously been reported to inversely correlate with fetal growth parameters. The original observation presented in this report showed that duplication of ZNF331 could be a novel genetic cause of isolated IUGR and underlines the usefulness of CMA to investigate the genetic causes of isolated severe IUGR., (© 2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

Prenatal diagnosis, care and management are involved in mortality and morbidity of every country. A high prevalence is estimated in Africa. We use bibliometrics and mapping tools to explore the area studies and countries involved in scientific research on prenatal diagnosis, care and management in Africa. We used two databases: Web of Science and Pubmed. We extracted sets of data as publication years, organizations, funding agencies, countries from Web of Science core collection database and Medical Subject Headings from Pubmed database. We mapped the data using VOSviewer. We performed keyword analysis. We accessed 463 articles published between 1956 and 2015 in Web of Science Core collection Database and 3372 from Pubmed database. The majority of which were after 2004. The main countries involved in research on prenatal field in Africa were the USA, the United Kingdom, France and South Africa. Two main keywords are relevant: fetal alcohol syndrome and HIV. Prenatal diagnosis, care and management are leaded by South Africa. Some new countries are merging such as Rwanda. The main fields are fetal alcohol syndrome and HIV. It is funded by NIH but also Cape Town University.

Background: Due to embargoes and sanctions from 1979 until 2015, impact on scientific research in Iran may be critical. Public health is the main example of this burning point. In this paper, the aim was to map the scientific research in public health in Iran until 2014 with area studies as well as networks of countries involved., Methods: We used bibliographic analyses using VOS viewer software for network analysis during the period 1975-2014. Two databases were used: Web of Science and PubMed. We performed analyses of journals, authors, publication years, organizations, funding companies, countries, keywords and Web of sciences Categories., Results: We accessed 862 articles published between 1991 and 2014, the majority of published after 2008. The main countries of research were Iran, the United States of America, England, and Sweden and represented the main network collaboration. The main Web of Sciences categories was public, occupational and environmental health, medicine general internal and parasitology. We accessed 25462 publications on PubMed database from 1950 to 2014. The majority of published after 2004. The main area studies were prognosis, wounds and injuries, soil solutions and biological markers., Conclusion: Public health research in Iran has been developed since 2004. The chief field was emerging cardiovascular diseases and communicable diseases. Other biotechnological fields were emerging such as biological markers research. Iran provides structures to face up with its new challenges using networks of countries such as the USA, England, and Sweden. End of embargoes could provide new perspectives for public health research and more largely scientific research in Iran.

Introduction: Neurodegenerative disorders are involved in mortality and morbidity of every country. A high prevalence is estimated in Africa. Neurodegenerative disorders are defined by a progressive or self-limiting alteration of neurons implied in specific functional and anatomical functions. It encompasses a various range of clinical disorders from self-limiting to progressive. Focus on public health policies and scientific research is needed to understand the mechanisms to reduce this high prevalence. We use bibliometrics and mapping tools to explore the area studies and countries involved in scientific research on neurodegenerative disorders in Africa., Methods: We used two databases: Web of Science and Pubmed. We analyzed the journals, most cited articles, authors, publication years, organizations, funding agencies, countries and keywords in Web of Science Core collection database and publication years and Medical Subject Headings in Pubmed database. We mapped the data using VOSviewer., Results: We accessed 44 articles published between 1975 and 2014 in Web of Science Core collection Database and 669 from Pubmed database. The majority of which were after 2006. The main countries involved in research on neurodegenerative disorders in Africa the USA, the United Kingdom, France and South Africa representing the main network collaboration. Clinical neurology and Genetics hereditary are the main Web of Science categories whereas Neurosciences and Biochemistry and Molecular Biology are the main Web of Science categories for the general search "neurodegenerative disorders" not restrained to Africa. This is confirmed by Medical Subject Headings analysis from Pubmed with one more area study: Treatment., Conclusion: Neurodegenerative disorders research is leaded by South Africa with a network involving the USA, the UK, as well as African countries such Zambia. The chief field that emerged was on patient and hereditary as well as treatment. Public health policies were lacking fields in research whereas prevalence is estimated to be important in every country. New 17 sustainable development goals of the United Nations could help in this way.

We report on a female fetus with macrocephaly and macroglossia harbouring 13q31.1 microdeletion encompassing three genes: SPRY2, NDFIP2 and RBM26. NDFIP2 protein is involved in ubiquitination and in Ras/mitogen-activated protein kinase (MAPK) signaling pathways. SPRY2 protein is part of Sprout protein family and inhibits the Ras/MAPK pathways. Ras/MAPK pathway plays important role in complex cellular programs including cell differentiation and proliferation. Germline mutations in genes encoding protein involved in the MAPK cascade is responsible for a wide family of developmental disorders known as RASopathies. Some RASopathies, such as Costello syndrome, present a phenotype with (relative) macrocephaly as perinatal features. However, prenatal-onset macroglossia are generally absent in this syndrome but rather suggestive of the Beckwith-Wiedemann syndrome for which molecular testing were negative. Phenotype-genotype correlation with patients from DECIPHER defines NDFIP2 and SPRY2 as a possible candidate genes for a RASopathy potentially responsible for the clinical features in the fetus. Finally, this original case of 13q31.1 microdeletion underlines the importance of array-CGH in prenatal diagnosis with sonographic signs such as macroglossia and/or macrocephaly. In this case, genetic investigation should be not limited to the search of well-known genetic causes and other genomic microdeletions should be considered as alternative diagnoses for macroglossia., (Copyright © 2015 Elsevier Masson SAS. All rights reserved.)

Background. Since 1994, South Africa (SA) has faced up to the challenge of building a strong economy, to which public health provides an important underpinning. Objectives. To map the scientific research in public health in SA after the end of apartheid and to present the links between the different financing/funding systems. Methods. Bibliographic analyses utilising the Web of Science of papers published during the period 1975 - 2014, analyses of journals, most cited articles, authors, publication years, organisations, funding agencies, countries and keywords, and mapping of the relations between countries involved in public health research and of the Web of Science Categories using VOSviewer. Results. I accessed 2 246 articles published between 1975 and 2014, the majority of which were published after 2007. The main countries of research were the USA, SA, Switzerland and the UK, representing the main network collaborations. The relevant keywords were HIV, woman, child, program/programme, rural, tuberculosis, district and sex. Conclusions. Public health research in SA reached a high level 16 years after the end of apartheid. The chief field that emerged was the spread of HIV, including mother-to-child transmission, and the policies applied to all districts of SA, through a network of institutions between the USA and SA.

Background: Since the genocide occurred in 1994, Rwanda has faced up to the challenge of rebuilding. Public health is a main field to understand this rebuilding., Objectives: In this paper, the aim was to map the scientific research on public health in Rwanda after the genocide and to present the links between different financing systems., Methods: We used bibliographic analyses with Web of Science of papers published during the period 1975-2014. We performed analyses on journals, most cited articles, authors, publication years, organizations, funding companies, countries, and keywords., Results: We obtained 86 articles between 1975 and 2014. Most articles were published after 2007. The main countries of research laboratories were the United States of America, Rwanda, England and Belgium and represented the main network collaboration. The relevant keywords were: HIV, woman, child, program, rural and violence., Conclusions: Public health research on Rwanda appeared 14 years after the genocide. A main field was emerging: the spread of HIV with mother-child transmission, and the policies to take this subject into account in rural zones. The network of institutions developing these studies was USA-Rwanda.

Commensalism is a biological association between two species, with one species, the commensal, getting an advantage, whereas the other one, the host, gets no advantage neither disadvantage. This concept is theorized in the 1860's by Pierre-Joseph Van Beneden. Van Beneden is a physician in the 1850's, nevertheless, he is well known as a zoologist. The concept of commensalism developed by Van Beneden is employed in many scientific fields, not only in zoology, but also, in microbiology. Although the use of a possible play of the commensal bacterial microflora is exposed at the end of the 19th century, it is only during the second part of the 20th century that this way is studied. Commensalism in animal microbiology is studied first and then it is studied in human. The aim of this article is to present the history of commensalism as a main part of the history of microbiology.