Irish journal of medical science
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Familial Mediterranean fever (FMF) is an autosomal recessive genetic disease. Amyloidosis is the most important complication of FMF that determines the prognosis of the disease. ⋯ In our study, the distribution of the frequency of mutations is consistent with other similar studies performed in Turkey. We found that patients with M694V mutation had a significantly higher rate of exacerbation, higher drug doses for treatment, and a close relationship with amyloidosis, as compared to patients with other mutations.
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Galanin is a neuroendocrine peptide with diverse biological actions in humans. Here, we evaluated plasma galanin levels in pregnant women with intrauterine growth restriction (IUGR) to elucidate the mechanism underlying the causal link between regulatory neuropeptides and IUGR. ⋯ The lack of correlation between galanin levels and maternal BMI and preterm pregnancies suggests a blunted neuropeptide response to hormonal stimulus in IUGR pregnancies, compared with the positive association with maternal BMI and negative association with healthy preterm pregnancies.
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During the COVID-19 lockdown, social isolation from school closures and home visitation restrictions compounded known risk factors for child maltreatment. The aim of our study was to determine the incidence and types of child protection concern (CPC) among inpatients during the COVID-19 lockdown compared to the matched timeframe in 2019. We retrospectively reviewed the CPC assessments performed at Children's Health Ireland at Crumlin and Tallaght from March 13 to August 31, 2020, and the same period in 2019. ⋯ Case complexity, defined as involving two or more types of CPC, increased with 48.8% in 2020 versus 13.5% in 2019 (p < 0.001). In conclusion, there were fewer assessments for CPC during the 2020 lockdown. However, the complexity of the CPC cases was significantly increased in 2020.
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Butyrylcholinesterase (BChE), an important biomarker of exposure to anticholinesterases, varies its activity according to the intensity and duration of exposure to these agents. Their normal values may vary in different populations. It is important to determine the reference values for the local population, mostly black/brown. ⋯ Despite the high miscegenation and predominance of the black race in Salvador, contrary to what was expected, the sample did not show statistically significant intra-racial differences in BChE activity, being able to use the same reference values currently used, observing factors such as sex, use of contraceptives, and drinking alcohol.
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Subarachnoid haemorrhage (SAH) clinical decision rules can provide successful results in the differential diagnosis of non-traumatic headache. ⋯ EMERALD SAH rule plus eosinophil, which offers 100% sensitivity and NPV for predicting SAH in adult non-traumatic headaches, may be recommended as a successful and practical decision rule for clinical use according to the Ottawa and EMERALD SAH rule.