Severe Birth Defects Research Articles

A noncanonical glycoprotein H complex enhances cytomegalovirus entry.

Human cytomegalovirus (HCMV) causes severe birth defects, lifelong health complications, and $4 billion in annual costs in the United States alone. A major challenge in vaccine design is the incomplete understanding of the diverse protein complexes the virus uses to infect cells. In Herpesviridae , the gH/gL glycoprotein heterodimer is expected to be a basal element of virion cell entry machinery. For HCMV, gH/gL forms a "trimer" with gO and a "pentamer" with UL128, UL130, and UL131A, with each complex binding distinct receptors to enter varied cell types. Here, we reveal a third glycoprotein complex, abundant in HCMV virions, which significantly enhances infection of endothelial cells. In this "3-mer" complex, gH, without gL, associates with UL116 and UL141, an immunoevasin previously known to function in an intracellular role. Cryo-EM reveals the virion-surface 3-mer is structurally unique among Herpesviridae gH complexes, with gH-only scaffolding, UL141-mediated dimerization and a heavily glycosylated UL116 cap. Given that antibodies directed at gH and UL141 each can restrict HCMV replication, our work highlights this virion surface complex as a new target for vaccines and antiviral therapies.

Cloacal Exstrophy Closure Without Osteotomy and Immobilization: A Recipe for Failure

BackgroundCloacal exstrophy (CE) remains one of the most severe birth defects compatible with life with a constellation of anomalies involving the bladder, genitalia, hindgut, and spinal cord. Pelvic osteotomy and immobilization have been utilized to facilitate bladder closure, yet their role as adjuncts remains a topic of debate. The authors sought to evaluate the outcomes of CE closure without the use of osteotomy or lower extremity (LE)/pelvic immobilization. MethodsAn institutional database of 173 CE patients was reviewed for patients closed without osteotomy and/or limb immobilization. Patient records were reviewed for continence procedures, reclosure operations, and continence outcomes. ResultsA total of 59 closure surgeries that met inclusion criteria were identified in 56 unique patients. Thirty-seven closure procedures developed eventual failure (63%) with secondary closure events also resulting in failure. Most closures did not use an osteotomy, 93.2%. LE immobilization-only was used in most closures (43/59), of which only 37% were successful. Failures were attributed to dehiscence (14/37), bladder prolapse (19/37), or both dehiscence and prolapse (4/37). The median age at closure was 3 days old (1–18.5 IQR) with the majority of closure events (47) closure events taking place in the newborn period. Median diastasis prior to primary closure was 6 cm (4.8–8 cm IQR). The median number of closure attempts needed to close the bladder was 2 (1–2 IQR). Of the 56 patients, 31 have >3 h of daytime continence, with the entirety of these patients catheterizing a stoma or below. ConclusionThese results highlight the critical role of osteotomy and lower limb immobilization in successful closure of the bladder and abdominal wall in CE. Type of StudyTreatment Study. Level of EvidenceLevel III.

Deep learning-driven ultrasound-assisted diagnosis: optimizing GallScopeNet for precise identification of biliary atresia.

Biliary atresia (BA) is a severe congenital biliary developmental abnormality threatening neonatal health. Traditional diagnostic methods rely heavily on experienced radiologists, making the process time-consuming and prone to variability. The application of deep learning for the automated diagnosis of BA remains underexplored. This study introduces GallScopeNet, a deep learning model designed to improve diagnostic efficiency and accuracy through innovative architecture and advanced feature extraction techniques. The model utilizes data from a carefully constructed dataset of gallbladder ultrasound images. A dataset comprising thousands of ultrasound images was employed, with the majority used for training and validation and a subset reserved for external testing. The model's performance was evaluated using five-fold cross-validation and external assessment, employing metrics such as accuracy and the area under the receiver operating characteristic curve (AUC), compared against clinical diagnostic standards. GallScopeNet demonstrated exceptional performance in distinguishing BA from non-BA cases. In the external test dataset, GallScopeNet achieved an accuracy of 81.21% and an AUC of 0.85, indicating strong diagnostic capabilities. The results highlighted the model's ability to maintain high classification performance, reducing misdiagnosis and missed diagnosis. GallScopeNet effectively differentiates between BA and non-BA images, demonstrating significant potential and reliability for early diagnosis. The system's high efficiency and accuracy suggest it could serve as a valuable diagnostic tool in clinical settings, providing substantial technical support for improving diagnostic workflows.

Folate fortification for spina bifida: preventing neural tube defects.

Neural tube defects (NTDs), such as spina bifida and anencephaly, are severe congenital anomalies affecting the development of the brain and spine. These conditions are often linked to folic acid deficiency during early pregnancy, a modifiable risk factor. While high-income countries have implemented mandatory folic acid fortification in staple foods, resulting in significant reductions in NTD prevalence, low- and middle-income countries (LMICs) continue to experience disproportionately high rates of these birth defects. Folic acid supplementation and fortification are proven interventions for preventing NTDs, but many LMICs face political, financial, and logistical barriers to implementing these programs. This paper highlights the importance of mandatory folic acid fortification as a cost-effective public health intervention and advocates for its expansion in LMICs. It reviews the successes of fortification programs in high-income countries, explores alternative food vehicles like rice for regions with different dietary staples, and discusses the potential of multi-nutrient fortification strategies. Additionally, this paper emphasizes the need for global collaboration, enhanced monitoring and evaluation, and public health education campaigns to ensure that women of reproductive age, especially in LMICs, receive adequate folic acid. By addressing these challenges, the global health community can significantly reduce the incidence of NTDs, improve maternal and child health, and promote health equity worldwide. The time to act is now, as the benefits of folic acid fortification far outweigh the costs of inaction.

Common variants increase risk for congenital diaphragmatic hernia within the context of de novo variants.

Congenital diaphragmatic hernia (CDH) is a severe congenital anomaly often accompanied by other structural anomalies and/or neurobehavioral manifestations. Rare de novo protein-coding variants and copy-number variations contribute to CDH in the population. However, most individuals with CDH remain genetically undiagnosed. Here, we perform integrated de novo and common-variant analyses using 1,469 CDH individuals, including 1,064 child-parent trios and 6,133 ancestry-matched, unaffected controls for the genome-wide association study. We identify candidate CDH variants in 15 genes, including eight novel genes, through deleterious de novo variants. We further identify two genomic loci contributing to CDH risk through common variants with similar effect sizes among Europeans and Latinx. Both loci are in putative transcriptional regulatory regions of developmental patterning genes. Estimated heritability in common variants is ∼19%. Strikingly, there is no significant difference in estimated polygenic risk scores between isolated and complex CDH or between individuals harboring deleterious de novo variants and individuals without these variants. The data support a polygenic model as part of the CDH genetic architecture.

Characterization of Tissue Immunity Defense Factors of the Lip in Primary Dentition Children with Bilateral Cleft Lip Palate.

Bilateral cleft lip palate is a severe congenital birth defect of the mouth and face. Immunity factors modulate immune response, inflammation, and healing; therefore, they are vital in the assessment of the immunological status of the patient. The aim of this study is to assess the distribution of Gal-10, CD-163, IL-4, IL-6, IL-10, HBD-2, HBD-3, and HBD-4 in tissue of the bilateral cleft lip palate in primary dentition children. Five patients underwent cheiloplasty surgery, where five tissue samples of lip were obtained. Immunohistochemical staining, semi-quantitative evaluation, and non-parametric statistical analysis were used. A statistically significant increase in HBD-2, HBD-3, and HBD-4 was found in skin and mucosal epithelium, hair follicles, and blood vessels. A notable increase was also noted in IL-4, IL-6, and IL-10 in the mucosal epithelium and CD163 in blood vessels. The connective tissue of patients presented with a statistically significant decrease in Gal-10, IL-10, and HBD-3. Spearman's rank correlation revealed multiple significant positive and negative correlations between the factors. Upregulation of CD163 points to increased angiogenesis but the increase in IL-4 and IL-10 as well as the decrease in Gal-10 points to suppression of excessive inflammatory damage. Decreased connective tissue healing and excessive scarring are suggested by the decrease in HBD-3 and IL-10 and the increase in IL-6.

Prenatal screening and prenatal diagnosis clinical laboratory diagnostic pathway

Congenital defects and genetic diseases in the fetus are the focus of prenatal screening and prenatal diagnosis. Obstetrics and gynecology, pediatrics, medical imaging (ultrasound and magnetic resonance imaging), clinical laboratory, pathology, and other disciplines are mostly involved in this multidisciplinary work on maternal and infant health care, which aims to prevent birth defects in strict accordance with laws, regulations, and pertinent industry standards, such as the Notice of the National Health Commission on Issuing the Basic Standards for Prenatal Screening Technical Medical Institutions and the Basic Standards for Prenatal Diagnosis Technical Medical Institutions (Guowei Maternal and Child Letter [2019] No. 297). To further support the implementation of prenatal screening and diagnosis work and streamline workflow, this study has compiled the timing, inspection, and testing procedures of various projects in each link from the standpoint of the disease clinical laboratory diagnostic pathway. This approach improves communication amongst various disciplines in prenatal screening and diagnosis work and offers clinical service quality, and it also helps improve the standard of the birth population and prevent and controll severe birth defects.

Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy

BackgroundARID1A/ARID1B haploinsufficiency leads to Coffin-Siris syndrome, duplications of ARID1A lead to a distinct clinical syndrome, whilst ARID1B duplications have not yet been linked to a phenotype. MethodsWe collected patients with duplications encompassing ARID1A and ARID1B duplications. Results16 ARID1A and 13 ARID1B duplication cases were included with duplication sizes ranging from 0.1-1.2 Mb(1-44 genes) for ARID1A and 0.9-10.3 Mb(2-101 genes) for ARID1B. Both groups shared features, with ARID1A patients having more severe intellectual disability, growth delay and congenital anomalies. DNA methylation analysis showed that ARID1A patients had a specific methylation pattern in blood, which differed from controls and from patients with ARID1A or ARID1B loss-of-function variants. ARID1B patients appeared to have a distinct methylation pattern, similar to ARID1A duplication patients, but further research is needed to validate these results. Five cases with duplications including ARID1A or ARID1B initially annotated as duplications of uncertain significance were evaluated using PhenoScore and DNA methylation re-analysis, resulting in the reclassification of two ARID1A and two ARID1B duplications as pathogenic. ConclusionOur findings reveal that ARID1B duplications manifest a clinical phenotype and ARID1A duplications have a distinct episignature that overlaps with that of ARID1B duplications, providing further evidence for a distinct and emerging BAFopathy caused by whole gene duplication rather than haploinsufficiency.

Care of children with congenital rubella syndrome (CRS) in Indonesia.

Congenital rubella syndrome (CRS) is associated with severe birth defects, that lead to disability in later life. Hence, early detection and intervention are needed to prevent permanent disability and mortality in children with CRS. We evaluated the time to diagnosis or correction intervention related to survival rate using survival analysis. A retrospective cohort study was conducted to evaluate the follow-up of CRS-confirmed cases from 2011-2018 at a national referral hospital in Jakarta, Indonesia. Parents of eligible children who registered in the national CRS registry as laboratory-confirmed CRS cases were contacted through phone calls or home visits and interviewed about the current situation of their child's health. We also obtained clinical data from the medical records. Fifty children, age 4 to 14 years, identified with laboratory-confirmed CRS were included in this study. Half (54%) of these children were female. All were born from mothers with no previous rubella vaccination history. Ophthalmic abnormalities such as congenital cataracts (88%) were the most common birth defect. Multiple congenital abnormalities including congenital heart disease, ocular abnormalities, and auditory defects were identified in 52% of the children. Based on Kaplan-Meier analysis, 50% of children were diagnosed at four months. Ophthalmic corrections such as cataract surgery were performed earlier than heart or auditory correction, with 50% of children undergoing eye correction one month after the diagnosis. There is a vital need to implement CRS surveillance in Indonesia to know the burden of CRS and reinforce the preventive actions, including vaccination against rubella.

Unveiling the Therapeutic Potential of Folate-Dependent One-Carbon Metabolism in Cancer and Neurodegeneration.

Cellular metabolism is crucial for various physiological processes, with folate-dependent one-carbon (1C) metabolism playing a pivotal role. Folate, a B vitamin, is a key cofactor in this pathway, supporting DNA synthesis, methylation processes, and antioxidant defenses. In dividing cells, folate facilitates nucleotide biosynthesis, ensuring genomic stability and preventing carcinogenesis. Additionally, in neurodevelopment, folate is essential for neural tube closure and central nervous system formation. Thus, dysregulation of folate metabolism can contribute to pathologies such as cancer, severe birth defects, and neurodegenerative diseases. Epidemiological evidence highlights folate's impact on disease risk and its potential as a therapeutic target. In cancer, antifolate drugs that inhibit key enzymes of folate-dependent 1C metabolism and strategies targeting folate receptors are current therapeutic options. However, folate's impact on cancer risk is complex, varying among cancer types and dietary contexts. In neurodegenerative conditions, including Alzheimer's and Parkinson's diseases, folate deficiency exacerbates cognitive decline through elevated homocysteine levels, contributing to neuronal damage. Clinical trials of folic acid supplementation show mixed outcomes, underscoring the complexities of its neuroprotective effects. This review integrates current knowledge on folate metabolism in cancer and neurodegeneration, exploring molecular mechanisms, clinical implications, and therapeutic strategies, which can provide crucial information for advancing treatments.

Популяционные частоты врожденной диафрагмальной грыжи в регионах РФ по данным мониторинга врожденных пороков развития

Congenital diaphragmatic hernia (CDH) is a severe birth defect characterized by impaired development of the diaphragm that leads to displacement of the abdominal organs into the chest with incidence from 2 to 4 per 10,000 births and its interregional differences that determine the need for assessing the regional incidence. The purpose of this research was to determine the populational CDH incidence and its dynamics in Russia regions based on the data from nationwide epidemiological monitoring of birth defects (BDs). Materials and methods used: the analysis included 2011-2022 data from a cohort study based on BDs epidemiological monitoring from 25 regional registers. In total there were 1493 BD cases among live births, stillbirths and eliminated fetuses with malformations that were included in the study with the total birth count of 5,366,657. Results: the overall CDH incidence in the 25 selected Russia regions was 2.78 per 10,000 births (95% CI 2.71-2.85) without any significant change in its dynamics over the observed period. Interregional differences in CDH incidence were revealed as follows: the maximum incidence of 4.49 (95% CI 3.92-5.06) was registered in the Republic of Sakha (Yakutia); the minimum of 1.23 (95% CI 0.76-1.69) was registered in the Novgorod Oblast. The gender ratio of those affected was 1.2 males per 1 female. The majority of cases (53.81%) were represented by liveborn children, the proportion of stillborns was 5.99%, the proportion of fetuses with diaphragmatic hernia (DH) was 40.2%. 68% were represented by cases of isolated DH v. 32% of a combination of ВР with another BDs among all cases. Conclusion: this study has revealed the CDH incidence rates in 25 selected Russia regions, the incidence variety between the regions with the stability of it in dynamics. Conducting such epidemiological studies is important for understanding the nationwide spread of diseases and identifying risk factors that are important for the prevention and treatment of diseases.

Continent stoma with Modified Mansoura Technique (Indiana W pouch with nipple valve fixation) in adult bladder exstrophy: A rare case report on step-by-step surgery technique and outcome

Introduction: Bladder exstrophy (BE), a complex and severe congenital defect of urogenital sinus and the musculoskeletal system, in adulthood is very rare. The surgical management of adulthood bladder exstrophy is complex and post operative complications are possible. This case report show surgical management step-by-step and post operative outcomes of neglected bladder exstrophy with contracted bladder, right renal agenesis, bilateral unpalpable undescended testis (UDT), and megarecti with scibala. Case Presentation: A 23 years old male with neglected bladder exstrophy with contracted bladder, right renal agenesis, bilateral unpalpable undescended testis (UDT), and megarecti with scibala underwent Modified Mansoura Technique (Indiana W pouch + Nipple valve fixation) for the bladder exstrophy, orchidopexy with Shehata technique. Conclusion: Modified Mansoura Technique (Indiana W pouch + Nipple valve fixation) approach yielded favorable outcomes without post operative complications, at least during the monitoring period in hospital. However, continued follow-up is necessary to ensure long-term success.

Prevalence and clinical profile of renal agenesis: Case series and retrospective study from 2019 to 2023

Background and objective. Renal agenesis is a rare condition with complex causes, often involving genetic and environmental factors, though the exact triggers remain elusive. Studies have suggested an increased prevalence of renal agenesis. This study aims to evaluate the prevalence of renal agenesis and types of associated anomalies in newborns. Materials and methods. We performed a retrospective analysis of medical records of the newborns diagnosed with renal agenesis at the regional Level III unit between 2019 and 2023. All infants admitted to our maternity hospital during the study period were included. Stillbirths and fetal deaths were excluded. Neonatal, maternal, and paternal information was extracted from the neonatal medical charts. Statistical analysis was performed using IBM SPSS Statistics 23. Results. Within a cohort of 15,091 live births registered during the study period (2019-2023), 9 cases of renal agenesis were identified, corresponding to a prevalence of 1:1,677 live births. Four cases (44%) were prenatally diagnosed; 8 patients had unilateral agenesis, left-sided in 55.5% of cases. The mean gestational age at birth was 37.4 ± 4.2 weeks (28-41 weeks), while the mean neonatal weight at birth was 2,952.2 ± 1,076.2 g (range 960-4,110 g). Multiple significant malformations were found in three of the nine patients with renal agenesis. Three patients died during the neonatal period, two within the first 24 hours of life, and one at 13 days postpartum. Conclusions. Our retrospective study on renal agenesis revealed an increased prevalence of this congenital defect and an increased incidence of associated congenital abnormalities. Renal agenesis, bilateral or in association with other severe congenital defects, is associated with an increased rate of death.

Carrier screening for 223 monogenic diseases in Chinese population: a multi-center study in 33 104 individuals

To investigate the epidemiological characteristics and mutation spectrum of monogenic diseases in Chinese population through a large-scale, multicenter carrier screening. This study was conducted among a total of 33 104 participants (16 610 females) from 12 clinical centers across China.Carrier status for 223 genes was analyzed using high-throughput sequencing and different PCR methods. The overall combined carrier frequency was 55.58% for 197 autosomal genes and 1.84% for 26 X-linked genes in these participants.Among the 16 669 families, 874 at-risk couples (5.24%) were identified.Specifically, 584 couples (3.50%) were at risk for autosomal genes, 306(1.84%) for X-linked genes, and 16 for both autosomal and X-linked genes.The most frequently detected autosomal at-risk genes included GJB2(autosomal recessive deafness type 1A, 393 couples), HBA1/HBA2(α-thalassemia, 36 couples), PAH (phenylketonuria, 14 couples), and SMN1(spinal muscular atrophy, 14 couples).The most frequently detected X-linked at-risk genes were G6PD (G6PD deficiency, 236 couples), DMD (Duchenne muscular dystrophy, 23 couples), and FMR1(fragile X syndrome, 17 couples).After excluding GJB2 c.109G>A, the detection rate of at-risk couples was 3.91%(651/16 669), which was lowered to 1.72%(287/16 669) after further excluding G6PD.The theoretical incidence rate of severe monogenic birth defects was approximately 4.35‰(72.5/16 669).Screening for a battery of the top 22 most frequent genes in the at-risk couples could detect over 95% of at-risk couples, while screening for the top 54 genes further increased the detection rate to over 99%. This study reveals the carrier frequencies of 223 monogenic genetic disorders in the Chinese population and provides evidence for carrier screening strategy development and panel design tailored to the Chinese population.In carrier testing, genetic counseling for specific genes or gene variants can be challenging, and the couples need to be informed of these difficulties before testing and provided with options for not screening these genes or gene variants.

Screening for TORCH Antibodies in Croatian Childbearing-Aged Women, 2014-2023.

TORCH infections usually result in mild maternal morbidity, but may cause severe congenital abnormalities. Therefore, it is important to detect maternal infections, monitor the fetus after the disease has been recognized, and define the seronegative women who are at risk of primary infection during pregnancy. From 2014 to 2023, serum samples from 1032 childbearing-aged and pregnant women (16-45 years) were tested for IgM/IgG antibodies to the most common TORCH pathogens: Toxoplasma gondii, rubella virus (RUBV), cytomegalovirus (CMV), and herpes simplex viruses (HSV-1 and HSV-2). The overall IgG seroprevalence rates were 20.1% for T. gondii, 91.3% for RUBV, 70.5% for CMV, 66.8% for HSV-1, and 3.5% for HSV-2. Only HSV-2 seroprevalence was age-related, with a significant progressive increase in seropositivity from 0% in those aged less than 26 years to 9.3% in those older than 40 years. The seroprevalence of T. gondii was higher in residents of suburban/rural areas than in residents of urban areas (27.4% vs. 17.1%). In addition, participants from continental regions were more often toxoplasma-seropositive than those from coastal regions (22.2% vs. 15.3%). HSV-1 seroprevalence was also higher in suburban/rural areas (71.7% vs. 64.7%). Obstetric history was not associated with TORCH seropositivity. Univariate and multivariate risk analysis showed that suburban/rural areas of residence and continental geographic regions were significant risk factors for T. gondii seroprevalence. Furthermore, suburban/rural area of residence was a significant risk factor for HSV-1 seroprevalence, while older age was a significant risk factor for HSV-2 seroprevalence. A declining trend in the seroprevalence of all TORCH pathogens was observed compared to previous Croatian studies (2005-2011). Similarly, the proportion of women simultaneously IgG-seropositive to two or three pathogens decreased over time. The maternal serology before pregnancy could potentially reduce the burden of congenital TORCH infections.

Alteration in maxillary arch dimensions following preoperative nasoalveolar moulding therapy in bilateral cleft lip and palate patients

ABSTRACT Purpose Bilateral cleft lip and palate (BCLP) are severe congenital anomalies. The cleft interferes with the normal growth of the maxilla, leading to deficient midfacial development. The aim of the present study was to evaluate the short-term influence of preoperative nasoalveolar moulding (NAM) therapy on maxillary arch dimensions in patients with BLCP. Materials and methods 18 newborns (male: 12; female: 6) were recruited who underwent NAM therapy before cheiloplasty. The pre- (T0) and post-NAM (T1) plaster casts of the maxilla were scanned using a laboratory scanner. The measured parameters on the digital casts included premaxilla width, right and left alveolar cleft width, right and left molar region length, anterior interalveolar-, intercanine-, intermolar-, intertuberosity width, palatal length and anterior basal angle. Results Both left (p = 0.047) and right (p = 0.019) alveolar clefts significantly reduced in size at T1. A significant expansion in premaxilla width was detected (p = 0.037). Anterior basal angle showed a significant increase too. Except for the intermolar width (p = 0.045), no significant changes were identified in the transversal dimensions. Conclusion NAM therapy could potentially serve as an effective tool in mitigating the severity of bilateral cleft deformities at a short-term interval without interfering with maxillary growth. However, long-term studies are required to confirm the effectiveness of the therapy.

Expert consensus on the prenatal diagnosis and genetic counseling for uniparental disomy-related imprinting disorders

Uniparental disomy (UPD)-related imprinting disorders are a group of congenital disorders which can lead to severe birth defects. Their molecular etiology is the occurrence of UPD in the genomic imprinting regions, which may cause disturbed expression of parent-of-origin imprinted genes. With the widespread applications of genetic testing techniques, the prenatal diagnosis of UPD-related imprinted diseases has gradually become clinical routines. However, due to the complicated pathogenesis of such disorders, currently there is still a lack of standards and norms for the understanding, diagnosis, management and genetic counseling. By referring to the relevant guidelines and consensus, the latest progress of research, and opinions from experts in the relevant fields, the writing group has formulated a consensus over the prenatal diagnosis and genetic counseling for UPD-related imprinting disorders, with an aim to provide a more accurate and rational evaluation in prenatal clinics.

A Comprehensive Review on Rubella Virus

Rubella, colloquially known as German measles, is an exceptionally contagious viral illness that primarily affects children and non-immune young adults. While the infection is typically mild and self-limiting in most cases, rubella virus infection during early pregnancy can have devastating consequences, leading to a range of severe birth defects collectively termed congenital rubella syndrome (CRS). The etiological agent, Rubella virus (RV), is an enveloped, positive-sense single-stranded RNA virus and the sole member of the genus Rubivirus within the Matonaviridae family. Despite the availability of an effective and safe rubella vaccine, the disease continues to pose a significant global health threat, with an estimated 100,000 cases of CRS occurring annually worldwide, predominantly in regions with suboptimal vaccination coverage. This comprehensive review delves into the intricate details of rubella virus, encompassing its epidemiological patterns, modes of transmission, and the complex pathogenic mechanisms underlying congenital rubella syndrome

Zika Virus Infection Knowledge and Communication Preferences Among Women of Reproductive Age in Central Brooklyn, New York: A Thematic Analysis.

The 2016 outbreak of Zika virus (ZIKV) infected millions and resulted in thousands of infants born with malformations. Though the clusters of severe birth defects resulting from this outbreak have subsided, ZIKV continues to be a concern throughout much of Latin America and the Caribbean. Travel and sexual intercourse remain the dominant transmission risk factors for women of reproductive age and their partners. This is particularly true for communities in Brooklyn, New York, that comprise large immigrant and foreign-born populations. Practitioners of public health understand little about how women at risk for ZIKV are most likely to receive information about the virus or who they trust most to provide that information. In the context of five focus group discussions, this study explored the knowledge and communication preferences of 20 women of reproductive age in Central Brooklyn. Results derived from a thematic analysis suggest that while most women are familiar with mosquitos as ZIKV vectors, knowledge of sexual transmission is considerably lower. Many respondents believe that only women who are pregnant or trying to become pregnant are at risk, and public health agencies, such as the U.S. Centers for Disease Control and Prevention, remain the most trusted sources of information. These findings can support more effective communication about the risks of ZIKV infection and other vector-borne diseases to women in New York City and similar urban communities.

Was thalidomide a placebo hypnotic?

Six decades ago the world learned that thalidomide, a seemingly non-toxic sedative and hypnotic, caused severe birth defects including the flipper-like deformity of the arms known as phocomelia. When thalidomide was tested against placebo by the trialist Louis Lasagna in 1960 (while the drug was banned from the U.S. marketplace), he found the 100-mg dosage equivalent to placebo, as well as greatly inferior to the 200-mg dosage, in producing sleep. Even as these findings were made known, a 100-mg dose of thalidomide was in general use as a sleep aid for pregnant women. It appears that unbeknownst to themselves, an untold number of pregnant women around the world who were prescribed thalidomide incurred the risks of a teratogen in return for the benefits of a sugar pill.