Annals of medicine
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Pregnant women participated in multifaceted case management (MCM) to prevent Fetal Alcohol Spectrum Disorders (FASD). ⋯ At age five, proportionally fewer children of MCM participants qualified for a diagnosis of FAS, and proportionally more had physical outcomes indicating better prenatal brain development. Neurobehavioral indicators were not significantly different from controls by age five.KEY MESSAGESMultifaceted Case Management (MCM) was designed and employed for 18 months during the prenatal and immediate postpartum period to successfully meet multiple needs of women who had proven to be very high risk for birthing children with fetal alcohol spectrum disorders (FASD).Offspring of the women who participated in MCM were followed up through age five years and were found to have significantly better physical outcomes on multiple variables associated with fetal alcohol syndrome (FAS) and FASD, such as larger head circumferences and fewer minor anomalies, than those children born to equally at-risk women not receiving MCM.Fewer children of women receiving MCM were diagnosed with FASD than the offspring of equally-at-risk controls, and significantly (p = .01) fewer MCM offspring had FAS, the most severe FASD diagnosis.
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Vitamin D (VD) has been shown to exert immunomodulatory activities, especially in promoting immune tolerance. For these properties VD has been proposed in the therapy of immunological conditions in which the loss of tolerance is the key pathogenetic aspect of the disease, such as allergies. Despite these properties available literature suggests VD is not useful in treating or preventing allergic diseases and whether low serum VD levels favor allergic sensitization and severity is debated. ⋯ In our experience, the association of VD and Sublingual AIT (LAIS, Lofarma, Italy) gave an excellent clinical and immune response in particular enhancing the differentiation of memory T regulatory cells. While waiting for a more extensive literature, VD/AIT combination should be always performed in treating allergies. In any case, the assessment of the level of VD should become a routine in allergic patients with an indication to AIT as, in case of VD deficiency or insufficiency, VD seems a particularly active adjuvant to the immune treatment.
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Chromosomal microarray analysis (CMA) has been widely applied to genetic diagnosis in miscarriages in clinical practice. However, the prognostic value of CMA testing of products of conception (POCs) after the first clinical miscarriage remains unknown. The aim of this study was to evaluate the reproductive outcomes after embryonic genetic testing by CMA in SM couples. ⋯ SM couples with chromosomally abnormal miscarriage manifested with a similar reproductive prognosis to couples with chromosomally normal miscarriage. Key messagesCMA testing of POCs could provide an accurate genetic diagnosis for couples with SM.The live birth rate of couples with partial aneuploid miscarriage was as high as couples with chromosomally normal miscarriage, despite a higher risk of adverse pregnancy event.Among couples with the most common single aneuploid miscarriage, the cumulative live birth rates of couples with trisomy 16, sex chromosomal abnormalities and trisomy 22 were 94.1%, 95.8% and 84.0%, respectively.
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To evaluate the clinical utility of chromosomal microarray analysis (CMA) and whole exome sequencing (WES) in foetuses with oligohydramnios. ⋯ CMA has low diagnostic utility for oligohydramnios, while WES offers obvious advantages in improving the detection rate. WES should be recommended for fetuses with oligohydramnios.
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Patient-Reported Outcomes Measurement Information System (PROMIS®) is commonly used across medical conditions. To facilitate interpretation of scores across countries, we calculated Dutch reference values for PROMIS Physical Function (PROMIS-PF), Pain Interference (PROMIS-PI), Pain Behavior (PROMIS-PB), Ability to Participate in Social Roles and Activities (PROMIS-APSRA), and Satisfaction with Social Roles and Activities (PROMIS-SSRA), as compared to US reference values. ⋯ Dutch reference values were close to US reference values for some PROMIS domains but not all. We recommend country-specific reference values to facilitate worldwide PROMIS use.KEY MESSAGESPROMIS offers universally applicable IRT-based efficient and patient-friendly measures to assess commonly relevant patient-reported outcomes across medical conditions.To support the use of PROMIS in daily clinical practice and research across the world, country-specific general population reference values should be obtained.More research is necessary to obtain reliable and valid cut-off values for what constitutes mild, moderate and severe scores from the patients' perspective.