Kenny‐Caffey syndrome type 2 (KCS2) and osteocraniostenosis (OCS) are allelic disorders caused by heterozygous pathogenic variants in the FAM111A gene. Both conditions are characterized by gracile ...bones, characteristic facial features, hypomineralized skull with delayed closure of fontanelles and hypoparathyroidism. OCS and KCS2 are often referred to as FAM111A‐related syndromes as a group; although OCS presents with a more severe, perinatal lethal phenotype. We report a novel FAM111A mutation in a fetus with poorly ossified skull, proportionate long extremities with thin diaphysis, and hypoplastic spleen consistent with FAM111A‐related syndromes. Trio whole exome sequencing identified a p.Y562S de novo missense variant in the FAM111A gene. The variant shows significant similarity to other reported pathogenic mutations fitting proposed pathophysiologic mechanism which provide sufficient evidence for classification as likely pathogenic. Our report contributed a novel variant to the handful of OCS and KCS2 cases reported with pathogenic variants.
Abstract
Objective
This study was aimed to systematically review the use of filtering facepiece respirators, such asN95 masks, during pregnancy.
Study Design
A comprehensive search for primary ...literature using Medline, Embase, Scopus, Web of Science, and ClinicalTrials.gov was conducted from inception until April 2020 to find articles reporting outcomes of pregnant women using filtering facepiece respirator (FFR). Studies were selected if they included the use of FFR in pregnant women and reported an outcome of interest including physiologic changes (heart rate, respiratory rate, pulse oximetry, and fetal heart rate tracing) or subjective measures (thermal or exertional discomfort or fit). The Newcastle-Ottawa Quality Assessment scale was used to assess the risk of bias. The main outcome was to describe the physiologic changes in pregnant women compared with nonpregnant women. Due to the small number of studies and heterogeneity of reported outcomes a meta-analysis was not conducted. Results of the studies were synthesized into a summary of evidence table.
Results
We identified four studies, three cohort studies and one crossover study, comprising 42 women using FFR during pregnancy. Risk of bias was judged to be low. Studies were consistent in showing no significant increase in maternal heart rate, respiratory rate, oxygen saturation, and fetal heart rate between pregnant and nonpregnant women using N95 FFRs for short durations. Repeat fit testing was not supported for women gaining the recommended amount of weight during pregnancy. No evidence was found to reach conclusions about prolonged N95 FFR use in pregnancy.
Conclusion
Limited duration N95 FFR use during pregnancy is unlikely to impart risk to the pregnant women or her fetus.
Key Points
Limited N95 use unlikely to impart risk to pregnant woman/fetus.
Prolonged N95 use in pregnancy is unstudied.
Repeat fit testing in pregnancy likely unnecessary.
Background
Congenital malformations and adverse fetal outcomes secondary to teratogenic exposures are major public health concerns. We review all inquiries made to the Florida MotherToBaby service ...center as well as the novel Exposure Clinic, which offers direct patient counseling.
Methods
We completed a retrospective review of all inquiries made to the MotherToBaby Florida service and the Exposure Clinic consults between its inception January 2019 through December 2021. All de‐identified data was collected at the time of the inquiry and stored in the OTIS database. Aggregate data was then extracted and descriptive statistics were performed. A p value of less than .05 indicated statistical significance.
Results
In 2019, there were 163 total inquiries, 265 in 2020, and 1,279 in 2021. These 1,707 inquiries covered 2,809 unique exposures. In the Exposure Clinic, 49 patients were seen in 2019, 140 in 2020, and 263 in 2021. The clinic's geographical reach increased over time with patients from 22 different counties being seen in 2021. Of all individual exposures, 45% were evaluated in 452 unique encounters in the Exposure Clinic and 55% were evaluated in 1255 unique encounters via traditional modes of contact. The average number of exposures discussed at each clinic appointment 2.8 versus 1.2 in inquiries via traditional methods. The majority of all exposures were regarding prescription medications, specifically psychiatric medications, followed by immunizations. The exposure with the single most inquiries was the COVID‐19 vaccine.
Conclusions
This novel clinic structure allows for complex counseling and clinical recommendations regarding exposures during pregnancy.
Background
Exposures during pregnancy are common and most pregnant patients utilize at least one medication during pregnancy. The lack of reliable information on medication safety during pregnancy ...available to providers and patients is a stressor and obstacle to decision‐making about medication use in pregnancy. Previous studies showed that exposures in pregnancy are associated with guilt, worry, and decisional conflict. Although prior research has evaluated changes in patient knowledge after teratogen counseling, studies have not examined emotional outcomes or patients' decisional empowerment. This quasi‐experimental study measured changes in patients' feelings of guilt, anxiety, and decisional empowerment after receiving exposure counseling from trained teratogen information specialists.
Methods
We administered pre‐ and post‐counseling surveys to patients referred to a perinatal exposure clinic in Tampa, Florida. Validated scales were used to measure anxiety and guilt, and the ‘SURE’ measure was used to assess decisional empowerment. Paired samples t‐tests evaluated changes in anxiety and guilt and a McNemar test assessed for changes in empowered decision making.
Results
Among the 34 participants who completed both surveys, anxiety, and guilt scores decreased significantly (p < .001). While only 21% felt informed and empowered to make a decision related to their exposure(s) before counseling, this increased to 85% (p < .001) on the post‐survey.
Conclusion
Comprehensive counseling with a trained teratogen information specialist improves patient emotional outcomes as well as feelings of empowerment to make an informed decision regarding medication use in pregnancy. This study highlights that patient‐centered teratogen counseling goes beyond simple changes in patient knowledge.
Pregnant patients should be offered the option of prenatal genetic screening and diagnostic testing. The type of screening and testing offered to a patient may depend on various factors including but ...not limited to age, family history, fetal findings, exposures, and patient preferences. Prenatal screening is available for a variety of genetic conditions including aneuploidy, congenital abnormalities, and carrier status. Diagnostic testing options include karyotype, prenatal microarray, as well as next‐generation sequencing. The various options differ in methodology, accuracy, timing and indication for testing, and information they provide. Given that the technologies related to prenatal testing are rapidly evolving and improving, the array of available screening and testing modalities are increasing. This article reviews the current offerings in prenatal screening and diagnosis.
The Academic Park (Serb. Akademski park), located in the city core of Belgrade, is characterized by a rich history, and the very origin and development of the park have a close connection with the ...beginning of the development of Belgrade, while the concept of the park has been preserved to this day. The Academic Park is like a green oasis, a biologically-ecologically, functionally but also aesthetically important part of the city milieu. Having in mind the importance of this green area as an element of the urban environment, its ecological and landscape values, it has been determined that it is necessary to implement protection measures of this park, which is why in 2007 the park was designated as a botanical monument. The development of the Academic Park was commenced at the Turkish cemetery, continued with the market - King's Square and "Small Park" - Pančić's Park, to today's appearance, in a very interesting historical tale.
(Abstracted from Prenat Diagn 2017;37(2):126–132)The discovery of cell-free fetal DNA (cfDNA) that is free-floating in the serum has led to the development of screening technologies, both in ...obstetrics and oncology. Circulating cfDNA in the serum of pregnant women is the basis of noninvasive prenatal testing (NIPT).
The aim of the study was to determine to what extent severe cognitive impairment impacts short-term rehabilitation outcomes of elderly patients with proximal hip fracture.
A total of 337 ...community-dwelling elderly patients with acute hip fracture were observed during a 12-month period at a major teaching hospital in Serbia. Cognitive status was assessed at admission with the Short Portable Mental Status Questionnaire (SPMSQ). Outcome after 4 months was analysed with respect to presence of severe cognitive impairment, defined as an SPMSQ score of < 3. Outcome assessment included presence of postoperative complications, absolute motor Functional Independence Measure (FIM) gain, Activities of Daily Living index (ADL), Instrumental Activities of Daily Living score (IADL), and walking ability.
An SPMSQ score of < 3 was observed in 36 patients (10.7%) with acute hip fracture. Patients with an SPMSQ score of < 3 achieved worse short-term outcomes regarding all observed variables. However, cognitive status was found to be an independent predictor only with respect to mortality at 4 months (odds ratio (OR) = 0.969, 95% confidence interval (CI) = 0.947-0.992, p = 0.009). In contrast, pre-fracture motor FIM independently predicted mortality (OR = 2.982, 95% CI = 1.271-7.000, p = 0.012), and preserved walking ability at 4 months follow-up (OR = 0.945, 95% CI = 0.912-0.980, p = 0.002). Correspondingly, pre-fracture ADL was an independent predictor of absolute motor FIM gain at 4 months follow-up (OR = 0.175, 95% CI = 0.405-11.426, p = 0.035).
Failure to consider functional status prior to fracture might overestimate the impact of cognitive status on functional outcome of hip fracture patients.
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