Prenatal diagnosis of cleidocranial dysplasia: Case report on two cases with a negative family history.

Introduction: Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal dysplasia that presents with abnormalities in the craniofacial region, teeth, and clavicles and is linked to RUNX2 mutation. Prenatal diagnoses of CCD have rarely been reported, and most of these cases have a positive family history. Here we report two prenatally diagnosed CCD cases without a positive family history. We conducted a literature review to summarize the prenatal sonographic findings of CCD. Case reports: Case 1 (a 26-year-old woman): ultrasound at 13 weeks showed a thickened nuchal translucency with absent nasal bones and poor ossifications in the cranium and vertebrae. Genetic testing confirmed a frame shift deletion of RUNX2. Case 2 (a 27-year-old woman): ultrasound at 32 weeks showed potential fetal skeletal dysplasia, with inadequate skull ossification, mild ossified bilateral clavicles, and RUNX2 frameshift deletion mutation. Both cases were diagnosed with CCD and the parents chose pregnancy termination. Conclusion: These cases underscore the importance of sonographic examination for prenatal CCD diagnosis with a negative family history. By reviewing previous cases, we concluded that combining NB hypoplasia, clavicle and skull hypoplasia, and shortened long bones may be effective for early screening for CCD. Prenatal diagnosis is crucial for guiding medical decisions.

Spatiotemporal trends in global burden of rheumatic heart disease and associated risk factors from 1990 to 2019.

BACKGROUND: The aim of this study was to estimate the burden of rheumatic heart disease (RHD) and its trends in different countries, regions, genders and age groups globally. METHODS: Data were obtained from the Global Burden of Disease 2019 study. Age-standardized rates (ASRs) and the estimated annual percentage changes (EAPCs) in the ASRs were used to describe the burden of disease and its trends. Pearson's correlation was used to evaluate the correlation between sociodemographic index (SDI) values and the observed trends. RESULTS: In 2019, the ASRs of the incidence, prevalence, mortality and disability-adjusted life years (DALYs) of RHD were 37.39/105 (95%UI, 28.59/105 to 46.74/105), 513.68/105 (95%UI, 405.01/105 to 636.25/105), 3.85/105 (95%UI, 4.29/105 to 3.29/105) and 132.88/105 (95%UI, 115.02/105 to 150.34/105), respectively. From 1990 to 2019, the incidence and prevalence of RHD showed upward trends and the mortality and DALYs showed downward trends. Countries or regions in Africa, South America and South Asia had a greater burden of RHD. The burden of RHD was greater in women, where as men showed more obvious increasing trends in the incidence and prevalence. The incidence of RHD was highest in adolescents, and the prevalence was highest in young and middle-aged. The mortality and DALYs rate associated with RHD increased with age. The EAPCs in the ASRs were negatively correlated with the SDI value. CONCLUSION: Although the ASRs of mortality and DALYs attributable to RHD are decreasing globally, RHD remains an important public health problem that needs to be addressed urgently, especially in certain low- and middle-income countries and regions.

Global, Regional, and National Burdens of Ischemic Heart Disease Attributable to Smoking From 1990 to 2019.

Background This study was conducted to estimate the distribution of and changes in the global disease burden of ischemic heart disease attributable to smoking between 1990 and 2019. Methods and Results Data used in this study come from the GBD 2019 (Global Burden of Disease Study 2019). Age-standardized rates and estimated annual percentage change of age-standardized rates were used to describe this burden and its changing trend. Pearson's correlation coefficient was used to evaluate the correlation between the sociodemographic index and changing trend. From 1990 to 2019, the burden of ischemic heart disease attributable to smoking has shown a downward trend globally; estimated annual percentage changes of age-standardized mortality rates and age-standardized disability-adjusted life-years rates were -2.012 (95% CI, -2.068 to -1.956) and -1.907 (95% CI, -1.975 to -1.838). Nineteen countries experienced an increase in disease burden, and the changes in 17 countries were not statistically significant. In addition, this burden was higher in men and older age groups. Estimated annual percentage change of the age-standardized rates of this burden were negatively correlated with the sociodemographic index. Conclusions Although the burden of ischemic heart disease attributable to smoking has decreased in >80% of countries or regions in the past 30 years, it has remained a significant issue in low- and middle-income countries, particularly among men and elderly populations. Therefore, active tobacco control measures, focusing on key populations, are required to reduce the associated burden of ischemic heart disease, especially in those countries or regions with increasing prevalence and disease burden.

Dynamic Evaluation of the Rectus Abdominis Muscle before and after Delivery by Ultrasonography.

Objective: To evaluate the changes of rectus abdominis thickness and inter-rectus distance before and after delivery with high-frequency ultrasound. Methods: A total of 148 pregnant women at 12 weeks of gestation who underwent prenatal examination in our hospital from January 2019 to March 2020 were selected, and 140 of them cooperated with rectus abdominis examination. According to the results of rectus abdominis examination 42 days after delivery, 97 patients were divided into the DRA group with rectus abdominis isolated and 43 patients were divided into the normal group with rectus abdominis not isolated. At 12 weeks, 24 weeks, and 37 weeks of pregnancy, 3 days and 42 days after delivery, the thickness and spacing of the left and right rectus abdominis muscle were measured by high-frequency ultrasound along the white linea at three positions: 5 cm above the navel, 3 cm below the umbilical edge, and 3 cm below the navel. Results: The thickness of rectus abdominis at 5 cm above the navel, 3 cm below the navel, and at the navel margin of the abdominal white line in the pregnant women of the two groups was gradually decreased with the increase of the pregnancy cycle and gradually recovered after delivery. At 42 days after delivery, the thickness of rectus abdominis in the DRA group was significantly lower than that in the normal group, which was 5 cm above the umbilicus, 3 cm below the umbilicus, and the umbilical margin of the abdominal white line (P < 0.05). The space between rectus abdominis 5 cm above the navel, 3 cm below the navel, and the navel margin of the abdominal white line in the pregnant women of the two groups was gradually increased with the increase of the pregnancy cycle and gradually recovered after delivery. At 37 weeks of pregnancy, 3 days after delivery, and 42 days after delivery, the space of rectus abdominis along the umbilicus 5 cm above, 3 cm below the umbilicus, and the umbilicus border of the abdominal white line in the DRA group was significantly larger than that of the normal group (P < 0.05). Conclusion: Ultrasound can accurately measure the inter-rectus distance and rectus thickness, accurately evaluate the degree of DRA, and realize the one-stop evaluation from prenatal diagnosis and prediction to postpartum rehabilitation monitoring, so as to intervene during pregnancy and reduce the risk of postpartum DRA.

Pharmaceutical administration for severe hypertension during pregnancy: Network meta-analysis.

Aims: To evaluate the efficacy of different pharmacologic treatment for severe hypertension during pregnancy. Methods: Two reviewers searched Ovid MEDLINE, Ovid EMbase, and the Cochrane Library for randomized clinical trials from the establishment of the database to 15 July 2021 that were eligible for inclusion and analyzed the pharmaceuticals used for severe hypertension in pregnancy. Results: 29 relevant trials with 2,521 participants were involved. Compared with diazoxide in rate of achieving target blood pressure, other pharmaceuticals, including epoprostenol (RR:1.58, 95%CI:1.01-2.47), hydralazine\dihydralazine (RR:1.57, 95%CI:1.07-2.31), ketanserin (RR:1.67, 95%CI:1.09-2.55), labetalol (RR:1.54, 95%CI:1.04-2.28), nifedipine (RR:1.54, 95%CI:1.04-2.29), and urapidil (RR:1.57, 95%CI:1.00-2.47), were statistically significant in the rate of achieving target blood pressure. According to the SUCRA, diazoxide showed the best therapeutic effect, followed by nicardipine, nifedipine, labetalol, and nitroglycerine. The three pharmaceuticals with the worst therapeutic effect were ketanserin, hydralazine, and urapidil. It is worth noting that the high ranking of the top two pharmaceuticals, including diazoxide and nicardipine, comes from extremely low sample sizes. Other outcomes were reported in the main text. Conclusion: This comprehensive network meta-analysis demonstrated that the nifedipine should be recommended as a strategy for blood pressure management in pregnant women with severe hypertension. Moreover, the conventional pharmaceuticals, including labetalol and hydralazine, showed limited efficacy. However, it was important to note that the instability of hydralazine reducing blood pressure and the high benefit of labetalol with high dosages intakes should also be of concern to clinicians.