Ellis-van Creveld syndrome: Report of a case and recurrent variant.

BACKGROUND: Ellis-van Creveld syndrome (EvCS) is a rare autosomal recessive skeletal dysplasia that is characterized by short stature, short limbs, short ribs, polydactyly and structural heart defect. Despite locus heterogeneity, in the majority of the cases, the disorder segregates with mutations in the EVC and EVC2 genes, notably mutations with truncating protein as a final sequence. In the present study, we report the prenatal findings and genetic analysis of a terminated pregnancy affected by severe thoracic and skeletal dysplasia. METHODS: After detailed physical and clinical examination, whole exome sequencing (WES) was performed and the variant was confirmed by Sanger sequencing. RESULTS: One homozygote variant in EVC2 gene was identified in the fetus (NM_147127, c.942G>A, p.W314X). The EVC2 gene is strongly associated with EvCS, which is consistent with the sonographic findings of the fetus. CONCLUSIONS: The homozygous p.W314X mutation found in this family was recently reported to be segregated in a consanguineous family originating from Pakistan. The occurrence of the p.W314X mutation in two unrelated families (Iranian and Pakistani) may be the result of an old founder effect or arose because of a mutational hotspot and is supporting evidence for the pathogenicity of this variant. Because skeletal dysplasia belongs to a broad spectrum of syndromes and therefore exhibits considerable background locus and allelic heterogeneity, our report highlights the need for appropriate genetic counseling and supports the feasibility of WES to determine an accurate diagnosis, as well as precise recurrence risk prediction.

Breastfeeding success and perceived social support in lactating women with a history of COVID 19 infection: a prospective cohort study.

BACKGROUND: Given the limited availability of research on the association between COVID-19 infection and breastfeeding success, the primary objective of this study is to conduct a comprehensive evaluation of this relationship. METHODS: This prospective cohort study included 260 women who were on the postnatal ward of an academic hospital affiliated with Tehran University of Medical Sciences during the COVID-19 pandemic (between March and August 2021). Among these women, 130 had tested positive for COVID-19 in pregnancy, while the remaining 130 were considered healthy. The study aimed to assess various factors, including sociodemographic characteristics and the results of four validated questionnaires: The Bristol Breastfeeding Questionnaire, The Multidimensional of Perceived Social Support (MPSS), The Breastfeeding Self-Efficacy Scale (BSES), and The Postpartum Partner Support Scale (PPSS). These questionnaires were administered to each participant to gather relevant data. After eight weeks, a telephone follow-up was carried out to assess the success of breastfeeding. The evaluation focused on determining if exclusive breastfeeding was maintained or not. Data was collected by questioning mothers about their infants' feeding habits in the past 24 h. Exclusive breastfeeding refers to the exclusive use of breast milk without the introduction of other liquids or solid foods. RESULTS: Women with a previous COVID-19 infection (case group) had a lower mean infant gestational age (P < 0.001) and a higher prevalence of cesarean section (P = 0.001) compared to the control group. The proportion of women who exclusively breastfed was higher in the control group (98.5%) than in women with a history of COVID-19 infection (89.2%) (P = 0.011). Furthermore, the case group reported lower scores in perceived social support and the Breastfeeding Self-Efficacy Scale, in contrast to the control group. Notably, there was a significant correlation between breastfeeding success and women's breastfeeding self-efficacy score. CONCLUSIONS: The findings of this study offer valuable insights for healthcare professionals, enabling them to promote early initiation of breastfeeding in mothers with a history of COVID-19 infection, while ensuring necessary precautions are taken.

Comparison of pregnancy complications in unintended and intended pregnancy: A prospective follow-up study.

BACKGROUND AND OBJECTIVES: Unintended pregnancy, as a pregnancy that is mistimed, unplanned or unwanted at the time of conception, is a common experience worldwide that puts mothers at risk for mental stress and its pregnancy complications. The aim of this study was to compare three common pregnancy complications, including preeclampsia, preterm labor, and low birth weight, between unintended and intended pregnancies in Sabzevar, northeast Iran in 2019. MATERIALS AND METHODS: This prospective follow-up study was conducted on 200 pregnant women (100 intended and 100 unintended pregnancies) who were between 18 and 35 years old and were referred for delivery to Shahidan Mobini Hospital, Sabzevar, Iran. Data were collected using a questionnaire and the subjects were recruited based on inclusion and exclusion criteria. Preeclampsia, preterm labor, and low birth weight were recorded after delivery and were statistically analyzed using the statistical package for social sciences (SPSS software) version 22 at the statistical significance of <0.05. RESULTS: The mean age and gravidity was significantly higher in the unintended pregnancy group compared to intended pregnancy group. The most common complication overall was low birth weight (25% of unintended and 16% of the intended pregnancies) followed by preterm labor (12% of unintended and 11% of intended pregnancies) and preeclampsia (5% of unintended and 1% of intended pregnancies). No significant relationship was found between the time of delivery and type of pregnancy (P = 0.50). CONCLUSION: The findings of this study indicated that unintended pregnancy can be a risk factor for pregnancy complications including preeclampsia and low birth weight and that sophisticated monitoring should be performed for better management of these complications.

Pharmacological Methods of Postoperative Pain Management After Laparoscopic Cholecystectomy: A Review of Meta-analyses.

BACKGROUND: Laparoscopic cholecystectomy (LC) is the optimal approach for patients with symptomatic cholecystolithiasis. Although LC has some advantages, many patients experience postoperative pain. METHODS: In this review, we aimed to study the available information and meta-analyses of pharmacological methods of postoperative pain management in patients undergoing LC. Two researchers conducted a literature search in multiple databases (PubMed, Web of Science, Science Direct, Scopus, EMBASE, and Cochrane Library). Papers on pharmacological management of postoperative pain for patients undergoing LC were considered eligible. All meta-analyses, with or without a systematic search, were included in our review. The researchers read the study titles and abstracts to identify relevant articles and appraise the full-text manuscripts. Of 145 papers, the full-text of 11 articles, which met the inclusion criteria, was studied. Information, including the authors' names, publication data, type of review, patients' characteristics, interventions, outcomes, sample size, pooled effect size, publication bias, and statistical and methodological heterogeneity, was extracted. The collected data were presented descriptively, without further statistical analysis. RESULTS AND CONCLUSIONS: Very low to low-quality evidence indicated that pharmacological agents, such as nonsteroidal anti-inflammatory drugs, lidocaine, parecoxib, nefopam, dexamethasone, and magnesium sulfate, could decrease pain intensity in patients undergoing LC. Moreover, moderate to high-quality evidence showed that intravenous infusion of ketamine and opioids, as well as pregabalin, was effective in pain control. Further, robust clinical trials are needed with several arms (eg, pharmacological agents) to compare the efficacy and safety of analgesics under similar clinical conditions and to find optimal regimens for pain management in patients undergoing LC.

Prone-Position Ventilation in a Pregnant Woman with Severe COVID-19 Infection Associated with Acute Respiratory Distress Syndrome.

A 25-year-old pregnant woman (gestational age: 24 weeks) presented with severe coronavirus disease-2019 (COVID-19) infection. Deterioration of her respiratory status resulted in her admission to the intensive care unit and mechanical ventilator support. Considering the lack of improvement in oxygen saturation, teleconsultation was performed, suggesting prone-position ventilation (PPV). Significant improvements were observed in oxygen saturation. The patient was extubated after five days of intermittent PPV and supine-position ventilation and was discharged 20 days after admission. Also, assessments revealed that the fetus was unharmed by the intervention. We suggest considering PPV for pregnant women with acute respiratory distress syndrome (ARDS).

Triploidy and Routine Combined First Trimester Pregnancy Screening.

BACKGROUND: This report is about a pregnancy with a triploid fetus and underscores the potential of first trimester combined screening to detect this devastating chromosomal aberration earlier in pregnancy. This report is about a pregnancy with a triploid fetus identified from the first trimester combined screening and confirmed by amniocentesis. METHODS: A 28 year old, G5P2AB2 woman was referred to our clinic at 15 weeks of gestation due to a remarkable decrease of her first trimester double biochemical markers and therefore in the high-risk range for trisomy 13 and 18. The woman underwent amniocentesis which revealed a karyotype of 69,XXX. The parents opted for termination and in post mortem physical examination, a hydrocephalus fetus with marked Intra-Uterine Growth Retardation (IUGR) in addition to syndactyly of third and fourth digits, low set malformed ears, micrognathia and club foot, was seen. RESULTS: Our results and previous reports highlight the need to consider a somewhat consistent pattern of the first trimester combined screening in a pregnancy with triploidy and underscore the potential of this screening strategy to detect this chromosomal aberration earlier in pregnancy. CONCLUSION: Early prenatal diagnosis of this syndrome would provide women an opportunity to terminate an affected pregnancy earlier. This is also important in preventing the risks of associated later induced abortion or obstetric complications.

Comparison of umbilical artery Doppler and non-stress test in assessment of fetal well-being in gestational diabetes mellitus: A prospective cohort study.

BACKGROUND: Gestational diabetes mellitus (GDM) is one of the most common medical complications of pregnancy and is related to poor perinatal outcomes. Reduction of neonatal complications of GDM is feasible by assessment of fetal well-being. Both fetal Doppler and NST are used for the screening of high-risk pregnancies. OBJECTIVE: We aimed to compare the non-stress test (NST) and umbilical artery (UA) Doppler assessments for evaluation of the adverse perinatal outcomes in GDM. METHODS: We conducted a prospective cohort study on 50 pregnant women with GDM in Jame Zanan Hospital, Tehran, Iran, from Oct 2014 to Sep 2015. A convenient sampling method was used for patient recruitment. Inclusion criteria were women with GDM, singleton pregnancies, and gestational age>32 weeks who had neither medical conditions nor fetal anomalies. Adverse perinatal outcomes were defined as Apgar scores at 1-min and 5-min <7, hypoglycemia (blood glucose <45 mg/dl), neonatal acidosis (PH<7.2), hypocalcemia (Ca<8 mg/dl), admission to the NICU for more than 24 hours, and perinatal death. Statistical analyses were performed with SPSS version 16 using Chi-square, Fisher's exact test, and independent-samples t-test. The significance level was considered at 0.05. RESULTS: Totally, 22% and 12% of women had an abnormal UA Doppler and a non-reactive NST respectively. Poor outcomes were detected in 13 women. The most frequent poor outcomes were hypoglycemia (n=9), Apgar 1-min <7 (n=8), neonate admitted in NICU (n=6), and respiratory distress syndrome (n=6). Poor outcome was more prevalent in women with non-reactive NST (p<0.001), abnormal UA Doppler (p=0.033), and those with infant birth weight >4000 gram (p=0.033). Sensitivity and specificity of the NST in predicting different poor outcomes were 76.9% and 97.3% respectively. Sensitivity and specificity of UA Doppler in predicting different poor outcomes were 30.8% and 94.6% respectively. CONCLUSION: NST is a better predictor of adverse perinatal outcomes in GDM patients.