From single-case analysis of neonatal deaths toward a further reduction of the neonatal mortality rate

Sander, André; Wauer, Roland R.

doi:10.1515/jpm-2018-0003

Cited by 6 publications

(5 citation statements)

References 14 publications

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Section: Discussionmentioning

confidence: 99%

“…Further, KLS subjects with TRANK1 polymorphism have reported increased birth difficulties (summarized in Dataset S5 ). We hypothesize that improved perinatal outcomes that have occurred in the past 50 years may explain this tendency (34-39); https://www.cdc.gov/nchs/data/nvsr/nvsr56/nvsr56_10.pdf; https://mchb.hrsa.gov/chusa14/health-status-behaviors/infants/infant-mortality.html). The TRANK1 birth difficulties relationship was also confirmed in the independent replication sample, where we found that only the subset of KLS patient reporting birth difficulties had a significant TRANK1 association.…”

Section: Discussionmentioning

confidence: 99%

“…As indicated above, our analysis revealed a significant association of the TRANK1 variant with birth difficulties in KLS patients but not controls. As perinatal care has improved over the last decades (34)(35)(36)(37)(38)(39); https://www.cdc.gov/nchs/data/nvsr/nvsr56/nvsr56_10.pdf; https://mchb.hrsa.gov/chusa14/health-status-behaviors/infants/infant-mortality.html), most notably in the 1990-2000s, we asked if the year of birth was an essential factor correlated to KLS in conjunction with TRANK1 rs71947865 variant. A possible birth year dependent TRANK1 interaction is also supported by the recent largest bipolar disorder GWAS ever published, where it was noteworthy that the strong TRANK1 SNP association found in the discovery sample in bipolar disorder cases did not replicate in a new, presumably more recent, bipolar GWAS replication set (15), a caveat being that birth year data was not made available in this study (15) for all but one replication cohort where the birth year range was 1981-2005.…”

Section: The Trank1 Association Is Birth Year Dependentmentioning

confidence: 99%

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Kleine Levin syndrome is associated with birth difficulties and genetic variants in the TRANK1 gene loci

Ambati

Hillary

Leu‐Semenescu

et al. 2021

Preprint

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Kleine-Levin Syndrome (KLS) is a rare disorder characterized by severe episodic hypersomnia, with cognitive impairment accompanied by apathy or disinhibition. Pathophysiology is unknown, although imaging studies indicate decreased activity in hypothalamic/thalamic areas during episodes. Familial occurrence is increased, and risk is associated with reports of a difficult birth. We conducted a worldwide case-control genome wide association study in 673 KLS cases collected over 14 years, and ethnically matched 15,341 control individuals. We found a strong genome-wide significant association (OR=1.48,rs71947865,p=8.6×10−9) with 20 single nucleotide polymorphisms encompassing a 35kb region located in the 3’ region of TRANK1 gene, previously associated with bipolar disorder and schizophrenia. Strikingly, KLS cases with TRANK1 rs71947865 variant had significantly increased reports of a difficult birth. As perinatal outcomes have dramatically improved over the last 40 years, we further stratified our sample by birth years and found that recent cases had a significantly reduced TRANK1 rs71947865 association. While theTRANK1 rs71947865 association did not replicate in the entire follow-up sample of 171 KLS cases, the TRANK1 rs71947865 was significantly associated with KLS in the subset follow-up sample of 59 KLS cases who reported birth difficulties (OR=1.54;p=0.01). Genetic liability of KLS as explained by polygenic risk scores was increased (pseudo r2=0.15;p<2.0×10−22 at p=0.5 threshold) in the follow-up sample. Pathway analysis of genetic associations identified enrichment of circadian regulation pathway genes in KLS cases. Our results suggest links between KLS, behavioral rhythmicity, and bipolar disorder, and indicates that the TRANK1 polymorphisms in conjunction with reported birth difficulties may predispose to KLS.Significance StatementGenetic markers in TRANK1 gene and its vicinity have been weakly associated with bipolar disorder and schizophrenia (10% increased risk). We found that the same polymorphisms are associated with Kleine-Levin Syndrome (50% increased risk), a rare sleep disorder characterized by recurrent episodes of severe hypersomnia and cognitive abnormalities. Response to lithium treatment are suggestive of a pathophysiological overlap between KLS and bipolar disorder. The study also shows that variants in the TRANK1 gene region may predispose to KLS when patients have had a difficult birth, suggesting that TRANK1 gene region modulate newborns’ response to brain injury, with consequences for mental and neurological health in adulthood. Another possibility may be that the polymorphism impact birth and KLS.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: The Trank1 Association Is Birth Year Dependentmentioning

confidence: 99%

See 1 more Smart Citation

Kleine Levin syndrome is associated with birth difficulties and genetic variants in the TRANK1 gene loci

Ambati

Hillary

Leu‐Semenescu

et al. 2021

Preprint

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“…With this approach, it is now possible to compare databases on an international level, and country-specific annotations with only one uniform query language, such as German or English, could be implemented. A first application, in which neotalogic epicrises were analysed with regard to avoidable infant mortality, has already proved successful [35].…”

Section: Discussionmentioning

confidence: 99%

Integrating terminologies into standard SQL: a new approach for research on routine data

Sander¹,

Wauer

2019

J Biomed Semant

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Background Most electronic medical records still contain large amounts of free-text data. Semantic evaluation of such data requires the data to be encoded with sufficient classifications or transformed into a knowledge-based database. Methods We present an approach that allows databases accessible via SQL (Structured Query Language) to be searched directly through semantic queries without the need for further transformations. Therefore, we developed I) an extension to SQL named Ontology-SQL (O-SQL) that allows to use semantic expressions, II) a framework that uses a standard terminology server to annotate free-text containing database tables and III) a parser that rewrites O-SQL to SQL, so that such queries can be passed to the database server. Results I) We compared several semantic queries published to date and were able to reproduce them in a reduced, highly condensed form. II) The quality of the annotation process was measured against manual annotation, and we found a sensitivity of 97.62% and a specificity of 100.00%. III) Different semantic queries were analyzed, and measured with F-scores between 0.91 and 0.98. Conclusions We showed that systematic analysis of free-text-containing medical records is possible with standard tools. The seamless connection of ontologies and standard technologies from the database field represents an important constituent of unstructured data analysis. The developed technology can be readily applied to relationally organized data and supports the increasingly important field of translational research. Electronic supplementary material The online version of this article (10.1186/s13326-019-0199-z) contains supplementary material, which is available to authorized users.

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“…Through the years 1990 to 2020 neonatal deaths dropped from 5million to 2.4 million. However, the rate of reduction of neonatal mortality is still slower than postneonatal mortality (Sander, A., Wauer, R., & WHO. 2020).…”

Section: Introductionmentioning

confidence: 99%

Predisposing Factors Associated with Preventive Practices of Low Birth weight among Women Living Close to Surface Coal Mines in Okura Region, Kogi State, Nigeria

Ochai,

Asekun-Olarinmoye,

Oloyede

et al. 2022

CTLSR

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Low birth weight remains a public health concern especially in developing countries as it is a major contributor to neonatal mortality. Investigations on the problem phenomenon have related proximity to surface coal mining to persistent increase in low birth weight. This was a cross-sectional descriptive study. The population were women attending anti-natal clinic in health facilities in Okura region, Kogi state. One hundred and eighty-three participants were recruited for the study. A validated structured interviewer-administered questionnaire was used to collect data on the Knowledge, attitude and prevention practices of the respondents measured. Data was collected using a validated 30-item interviewer questionnaire (reliable coefficient of 0.9). The result showed that the median age of the participants was 31 years and majority (42.1%) had at least secondary school education with 7.1% reporting non-formal education. Result also showed level of knowledge about low birth among the women was low with mean (SD) of 4.03(2.00) eighty-seven respondents had negative attitudinal disposition towards low birth weight. The mean (SD) of attitude was 9.6(3.35). The preventive practices of the respondents had an aggregated mean of 10.391.41. Generally, in this study, respondents had moderate level of knowledge, attitudinal disposition and preventive practices regarding proximity to coal mining and its effects/consequences. These moderate levels are not good enough as an increase in the predisposing factors (knowledge and attitude) is needed for the development of better practices and solutions in order to prevent/reduce the incidence of low birth weight. Key words: Cassia Siberian, Phytochemical, Antioxidant, Pharmaceuticals

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From single-case analysis of neonatal deaths toward a further reduction of the neonatal mortality rate

Cited by 6 publications

References 14 publications

Kleine Levin syndrome is associated with birth difficulties and genetic variants in the TRANK1 gene loci

Kleine Levin syndrome is associated with birth difficulties and genetic variants in the TRANK1 gene loci

Integrating terminologies into standard SQL: a new approach for research on routine data

Predisposing Factors Associated with Preventive Practices of Low Birth weight among Women Living Close to Surface Coal Mines in Okura Region, Kogi State, Nigeria

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