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Introduction A scientifically-based knowledge on the incidence, dynamics of detection and structure of congenital malformations of the musculoskeletal system (CMMS) has both practical and scientific significance. For many years, the Turner Institute has close scientific and practical ties with the state public health institution "Diagnostic Medical and Genetic Center" of St. Petersburg which carries out a regional monitoring of congenital disorders in St.Petersburg. Our objective was to present regional statistical data on the CMMS detection and structure in newborns and children of the first and second years of life, morbidity and disability in children aged 0-17 years in connection with congenital malformations of the musculoskeletal system, to study the proportion of CMMS patients in the orthopedic clinic and their need for surgical, including high-tech, treatment, and dispensary follow-ups in outpatient orthopaedic settings. Material and methods Regional statistics of St. Petersburg on prevalence, dynamics and structure of congenital malformations of the musculoskeletal system in children born in St. Petersburg in 2001–2015 were analyzed. The statistical data on the prevalence of congenital malformations of the musculoskeletal system in children aged 0–17 years in St. Petersburg were studied. Based on the studies conducted at the Turner Institute in 2014–2016, the proportion of patients treated for congenital malformations of the musculoskeletal system was revealed as well as their need for surgical treatment. Peculiarities of dispensary follow-ups of CMMS patients at orthopedic consultations of children's clinics of St. Petersburg were analyzed. Results and discussion The prevalence and structure of congenital malformations of the musculoskeletal system in 783,000 children born in St. Petersburg in the period of 2001–2015 are presented in accordance with blocks Q65–Q79 of ICD-10. Diagnostic results of congenital malformations of the musculoskeletal system in newborns (2.70 ‰) and in children of the same group until they reached three years of age (4.21 ‰) were studied in dynamics. Infacnts and children up to 17 years old with congenital malformations of the musculoskeletal system are under regular supervision of orthopedic surgeons. Disability due to congenital anomalies and malformations takes the third place among all the diseases detected in patients aged 0-17 years, established by pediatric medical and social expert boards of St. Petersburg. At the clinic of the Turner Institute, the proportion of patients with CMMS among all admitted patients was 38.6 %. Among them, 78 % of patients with CMMS received surgical treatment, of which 80 % of operations were performed using high technologies. Conclusions Statistics on congenital malformations of the musculoskeletal system in newborns and children under 3 years old and a high level of their disability shows the need in a specialized care for these children, including high-tech surgical treatment.

Farmers mix two or more pesticides as mixing saves the spraying time and the labour cost and also with the idea that it increases the efficiency. The cocktail effect of two agrochemicals, profenophos and abamectin, was tested on the tadpoles of the Asian common toad, Duttaphrynus melanostictus under laboratory conditions. First, the 48 hr lethal concentrations (LC50) was determined. Then, a chronic exposure to a series of ecologically relevant concentrations (profenophos: 0.125, 0.25, 0.5, 1.0, 2.0 ppm and abamectin: 0.01, 0.02, 0.03, 0.04, 0.05 ppm) and a mixture of these were carried out. A control was set up using de-chlorinated tap water. Survival, growth, behaviour and development of malformations were observed until metamorphosis. The LC50 value of profenophos and abamectin were 3.78 ppm and 0.12 ppm, respectively. Both pesticides caused lethal and sub lethal effects at low concentrations while abamectin was more toxic. In the chronic exposure to field level had greatly reduced the survival of tadpoles in profenophos (Chi square test, χ2= 133.8, p = 0.001), abamectin (χ2 = 105.5, p = 0.001) and the cocktail (χ2 = 137.5, p> 0.001) when compared with the control. All the exposures caused a reduction in the growth parameters with a significant reduction in snout-vent length and body mass in 15 days post-hatch tadpoles (one way ANOVA, p = 0.001). Moreover, exposed tadpoles took a longer time to metamorphose (40-42 days), developed malformations and showed behavioural abnormalities like altered feeding and swimming behaviours. Profenophos induced scoliosis and kyphosis, abamectin caused oedema while the cocktail exposed tadpoles developed both scoliosis and oedema. The effects of the cocktail exposure on survival, growth and development of malformations were higher than the lone effects. Although pesticide cocktail may have potential benefits in pest resistance management, what chemicals to be mixed have to be studied before recommending the mixing of chemicals to farmers to minimize the harmful effects on the environment.

Abstract Background Congenital malformations contribute significantly to the disease burden among children globally. A study conducted in Kenya on understanding the burden of surgical congenital anomalies, highlights the need for Kenyan health systems to go beyond the medical dimensions of illness. This could be achieved by linking knowledge of the severe congenital anomalies (CAs) and their impact of varying disability to the delivery of local health services and public health program planning. Subsequently, early detection of these congenital anomalies is vital and can be achieved through fetal ultrasonography. Studies have proven that antenatal ultrasound can successfully diagnose fetal abnormalities in many cases and therefore aid in counseling of parents and planning for early intervention. Although there are studies on screening of congenital anomalies in various populations, very few have been done in the African population and none to the best of our knowledge has been done in Kenya. Methods The patients, who underwent routine obstetric ultrasounds, were recruited into the study. The study population comprised patients who were referred from the obstetric clinic, casualty and other clinics within the hospital vicinity. Data of antenatal ultrasounds was statistically analyzed on structured data collection form to determine the prevalence of congenital anomalies. Results Fifteen fetal anomalies were diagnosed in 500 women who came for routine ultrasound (3%). The mean age of the mothers was 28.2 years (SD ± 4.5) with an age range from 15 to 44 years. 400 (80%) of the mothers were aged between 27 and 34 years. The most frequently observed fetal anomalies involved the head (8/ 500; 1.6%). Each of the remaining anomalies affected less than 1% of the fetuses and included anomalies of the spine (2/ 500; 0.4%), pulmonary (2/ 500; 0.4%), renal and urinary tract (2/ 500; 0.4%) and skeletal systems (2/ 500; 0.4%). Majority, 9 of 15 (60%) of the fetuses with anomalies detected on prenatal ultrasound resulted in postnatal mortality within days of delivery. Conclusion Congenital anomalies prevalence in our setting compares with those found in other studies. From this study, major birth defects are a major cause of perinatal mortality.

Chlordecone is an organochlorine pesticide that was extensively used to control the banana root borer population in the French West Indies until 1993. Its persistence in soil has led to widespread pollution of the environment, and human beings, including pregnant women, are still exposed to this chemical. High levels of exposure to chlordecone during gestation have been shown to cause congenital anomalies, including undescended testes in rodents. We assessed the associations between chlordecone concentrations in maternal and cord plasma and the risk of congenital anomalies in the Timoun Mother-Child Cohort Study (2004–2007) that included 1068 pregnant women in Guadeloupe. Odds ratios were estimated using unconditional logistic regression analysis, controlling for confounding factors. The median plasma concentrations in maternal and cord plasma were 0.39 μg/L and 0.20 μg/L, respectively. Thirty-six children were diagnosed with malformations according to the European Registration of Congenital Anomalies guidelines and 25 with undescended testes. There was no association between maternal or cord plasma concentration of chlordecone and the risk of overall malformations nor undescended testes. These results suggest that prenatal exposure to the currently observed environmental levels of chlordecone in French West Indies does not increase the risk of birth defects. [ABSTRACT FROM AUTHOR]

Vascular malformations (Vascular Malformation) of soft tissue are a consequence of abnormal development of vascular elements during embryogenesis. They are named after the vessel responsible. Their presence at birth raises the hypothesis of an intrauterine etiology of Vascular Malformation, but the influence of other factors may play an important role in their appearance, localization, and size. The literature suggests that treatment of Vascular Malformation is rarely surgical. Surgery is applied in cases of voluminous malformations and in cases of possible hemorrhagic complications. Meanwhile, patient outcomes have improved with new discoveries in laser technology for the treatment of Vascular Malformation, especially those of capillaries and the results are, in most of the cases, quite satisfactory and without significant complications. After institutional review board approval, we collected and analyzed the medical records of 90 patients diagnosed with Vascular Malformation, between January 2015 and December 2019 at the service of Burns and Plastic Surgery, "Mother Teresa" University Hospital Center of Tirana, Albania and from another private clinic in Tirana. Data were collected from the medical records on patient's charts. The aim of this study is to analyze different treatment modalities and the outcomes achieved for each group. [ABSTRACT FROM AUTHOR]

Rudimentary horn pregnancies are an increasingly recognized complication of Mullerian duct anomalies. They can lead to uterine rupture with severe maternal morbidity and mortality. We present the case of a 28-year-old woman with a prior surgical diagnosis of bicornuate uterus who was diagnosed with a 7-week pregnancy in the left horn of a bicornuate uterus by 2D ultrasound. Further investigation with 3D ultrasound revealed that the pregnancy was within a noncommunicating rudimentary horn of a unicornuate uterus. These findings were confirmed at laparotomy. This case illustrates the importance and benefits of utilizing 3D ultrasound in diagnosing suspected Mullerian anomalies. [ABSTRACT FROM AUTHOR]

We present two independent cases of syndromic thrombocytopenia with multiple malformations, microcephaly, learning difficulties, dysmorphism and other features. Exome sequencing identified two novel de novo heterozygous variants in these patients, c.35G>T p.(Gly12Val) and c.178G>C p.(Gly60Arg), in the RAP1B gene (NM_001010942.2). These variants have not been described previously as germline variants, however functional studies in literature strongly suggest a clinical implication of these two activating hot spot positions. We hypothesize that pathogenic missense variants in the RAP1B gene cause congenital syndromic thrombocytopenia with a spectrum of associated malformations and dysmorphism, possibly through a gain of function mechanism. [ABSTRACT FROM AUTHOR]

Ear malformations represent 50% of ear, nose and throat malformations. Ear malformations cause conductive hearing loss (CHL) and/or sensorineural hearing loss (SNHL) with a significant childhood disability worldwide. Early accurate diagnosis and treatment are mandatory to enhance language and speech development. Understanding the embryology of the ear explains the outcome of ototoxic prenatal insult according to the affected gestational age and the incidence of association among inner, middle, and external ear malformations. Computed tomography (CT) and magnetic resonance imaging (MRI) examinations of the temporal bone are used in the evaluation of ear malformations. In this review article, the spectrum of ear malformations is discussed in detail with hints on the ear embryology, the ear radiological anatomy, and radiological determinant factors of operative reconstruction of ear anomalies. • External and/or middle ear anomalies may occur without or with inner ear affection. • Computed Tomography and Magnetic Resonance Imaging are used in the radiological evaluation of ear malformations. • Appropriate surgical candidate selection can be done with proper interpretation of temporal bone CT and MRI. • Identify the findings that contraindicate the surgical reconstruction of ear malformations. [ABSTRACT FROM AUTHOR]

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Congenital heart diseases (CHD) are structural malformations of the heart or large vessels, which cause a functional impairment, present at birth, being discovered at that time or during the course of the life of the carrier. CHD are a group of complex diseases that cause a serious public health problem. the objective of the work was, to identify the most frequent congenital heart malformations in children under 1 year of age in the general hospital of the north IESS Los Ceibos of the city of Guayaquil (Ecuador) in the period July 2017- January 2018. The data of this investigation were taken from pediatric patients by reviewing medical records. In the study period, 35,105 pediatric care visits were made to children under 1 year of age. Around 1.025 (2.92%) cases of congenital malformations were detected, of which 108 corresponded to congenital heart malformations (CHD), that is, 10.53% of the malformations observed were of the CHD type. The most frequent cardiac congenital malformations in children under 1 year old are non-cyanotic congenital cardiac malformations (NC) with a total of 102 cases (94%) and 6 cases (6%). they correspond to congenital cardiac malformations (C), being these less frequent. [ABSTRACT FROM AUTHOR]

Introduction: Soft tissue vascular anomalies present a diagnostic challenge. In these anomalies, imaging is crucial for therapeutic planning and improvement of prognosis. Ultrasound (US) and Contrast-Enhanced Magnetic Resonance Imaging (CEMRI) are both widely utilised and are valuable imaging modalities, both having distinct advantages and limitations in evaluation of such lesions. Aim: To evaluate soft tissue vascular anomalies using US and CEMRI and assess their agreement in characterisation of these lesions. Materials and Methods: The prospective study included 75 patients with vascular anomalies evaluated by means of US and CEMRI: 71 underwent both US and MRI, three underwent US alone, and one patient underwent MRI alone. Patients of all ages were included. Lesions were characterised based on imaging findings and vascular perfusion characteristics. Histopathological evaluation was done in all patients. Receiver Operating Characteristic (ROC) analysis was used for differentiating data. The agreement of US and CEMRI with histopathological diagnosis were assessed using kappa statistics. Results: Among the soft tissue vascular anomalies, 17 were haemangiomas, 55 were vascular malformations and 3 were other vascular tumours. Majority of the lesions were venous malformations (n=26; 34.66%). A cut-off value of 17.5 cm/sec of peak venous velocity using colour Doppler showed 100% sensitivity in differentiating Arterio-Venous Malformations (AVM) from haemangiomas using ROC curves. Agreement expressed as kappa was 0.884 (95% CI 0.794-0.973) for US and 0.923 (95% CI 0.850-0.996) for CEMRI demonstrating near perfect agreement with histopathology in both. Conclusion: The findings of this study indicate that both US and CEMRI are accurate in detection and characterisation of soft tissue vascular anomalies showing comparable level of agreement. US may be the preferred imaging modality as it is widely available, relatively inexpensive and non-invasive. Contrast enhanced MRI may be reserved as a complementary technique in cases wherein lesion categorisation or extent is ambiguous during diagnosis. [ABSTRACT FROM AUTHOR]

Cerebrovascular malformations are uncommon diverse group of dysmorphic vascular communications that may occur sporadically or as part of genetic syndromes. These include non-neoplastic lesions such as arteriovenous malformations (AVM), cavernous malformations (CM), developmental venous anomalies (DVA), and telangiectasias as well as others like arteriovenous fistulas (AVF), vein of Galen malformations (VOGM), and mixed or unclassified angiomas. These lesions often carry a high degree of morbidity and mortality often requiring surgical or endovascular interventions. The field of cerebrovascular anomalies has seen considerable advancement in the last few years. Treatment and management options of various types of brain anomalies have evolved in neurological, neurosurgical, and neuro-interventional radiology arena. The use of radiological imaging studies is a critical element for treatment of such neurosurgical cases. As imaging modalities continue to evolve at a rapid pace, it is imperative for neurological surgeons to be familiar with current imaging modalities essential for a precise diagnosis. Better understanding of these cerebrovascular lesions along with their associated imaging findings assists in determining the appropriate treatment options. In the current review, authors highlight various cerebrovascular malformations and their current imaging modalities. [ABSTRACT FROM AUTHOR]

The first pharmaceutical retinoids approved by the U.S. Food and Drug Administration were given black‐box warnings against their use in pregnancy due to potential teratogenic effects. These first‐ and second‐generation retinoids were initially formulated for oral dosing and are structurally very similar to vitamin A, which has beneficial effects on skin as well as plays a vital role in driving healthy embryogenesis. Some of these early retinoids have since been reformulated for topical application, which has resulted in their diminished potential for systemic exposures. Additionally, rational drug design has been applied to create today's third‐generation retinoids (adapalene, tazarotene, and bexarotene). These compounds include aromatic rings within their molecular cores to provide structural rigidity that contrasts with the flexible aliphatic backbone of vitamin A and the earlier generations of retinoids, and thus limits their off‐target activity. As a result of these design features, the teratogenic potential in animals of the third‐generation retinoids and those reformulated for topical use is generally less than seen with oral administration of earlier generations of retinoids. The available, but limited, epidemiologic data further show little‐to‐no teratogenic potential associated with real‐life use of these compounds in humans. Given the paucity of epidemiologic data available at this time, however, it is recommended that the use of topical retinoids during pregnancy be avoided. However, in circumstances when inadvertent exposure in pregnancy may occur, the available data provide some reassurance that adverse pregnancy outcomes are unlikely. [ABSTRACT FROM AUTHOR]

Our ability to make accurate and specific genetic diagnoses in individuals with severe developmental disorders has been transformed by data derived from genomic sequencing technologies. These data reveal both the patterns and rates of different mutational mechanisms and identify regions of the human genome with fewer mutations than would be expected. In outbred populations, the most common identifiable cause of severe developmental disorders is de novo mutation affecting the coding region in one of approximately 500 different genes, almost universally showing constraint. Simply combining the location of a de novo genomic event with its predicted consequence on the gene product gives significant diagnostic power. Our knowledge of the diversity of phenotypic consequences associated with comparable diagnostic genotypes at each locus is improving. Computationally useful phenotype data will improve diagnostic interpretation of ultrarare genetic variants and, in the long run, indicate which specific embryonic processes have been perturbed. [ABSTRACT FROM AUTHOR]

Objective: We compared women with drug‐resistant focal epilepsy who had undergone surgery (WWE‐S) with those who were managed medically (WWE‐M) for maternal and fetal outcomes of their pregnancies. Methods: We classified all WWE‐S who were enrolled in a prospective registry of epilepsy and pregnancy (1998‐2015) as those who underwent the surgery before pregnancy (WWE‐SF) or after pregnancy (WWE‐PF). The comparator group (WWE‐M) was twice that number of age‐matched women with focal epilepsy in this registry. Their clinical profile, anti‐epileptic drug (AED) use, and pregnancy outcomes were extracted from the records of the registry. Results: The number of completed pregnancies with known outcome was 74 for WWE‐S (67 WWE‐SF and 7 WWE‐PF) and 134 for WWE‐M. Seizures increased during pregnancy for fewer WWE‐SF than for WWE‐M (14.9% vs 39.6%, P =.001). Compared to WWE‐M, fewer WWE‐SF had dose escalation during pregnancy (28.4% vs 14.9%, P =.025). Preterm deliveries were more frequent in WWE‐SF than WWE‐M (24.6% vs 12.2%, P =.029). The differences between the WWE‐SF and WWE‐M regarding the rates of fetal loss (10.4% vs 6.7%, P =.255), major congenital malformations (8.5% vs. 11.1%, P =.395), and development quotient at 1 year of age <85 (42.5% vs 42.3%, P =.569) were not statistically significant. Compared to WWE‐PF, fewer WWE‐SF had AED dose escalation (14.9% vs 85.7%, P =.001) or increase in seizures (14.9% vs 100%, P =.001) during pregnancy. WWE‐SF had fewer infants with development quotient <85 (41.0% vs 100%, P =.005). Significance: WWE‐SF can expect better control of seizures and decreased AED burden during pregnancy than WWE with focal epilepsies managed with medicines only. WWE who undergo surgery for epilepsy before their pregnancies can expect fewer seizures and lower AED burden during pregnancy. [ABSTRACT FROM AUTHOR]

Ondansetron is increasingly used off label to treat nausea and vomiting during pregnancy. The main objective of this study was to evaluate the risk of major congenital malformations (MCM), cardiac defects and orofacial clefts associated with first trimester exposure to ondansetron using a meta‐analytic approach. MEDLINE, ClinicalTrials.gov and Scopus were searched until November 2019. All comparative cohort and case–control studies on MCM, cardiac or orofacial defects and use of ondansetron during pregnancy were included. A team of paired reviewers independently extracted data using a proprietary collaborative WEB‐based meta‐analysis platform (metaPreg.org). Pooled odd ratios with corresponding 95% CIs were calculated using random effects models. From 214 records initially retrieved, 12 studies were included. Using all available information to date, first trimester exposure to ondansetron was found to be associated with an increased risk of (a) ventricular septal defects (VSD) (OR 1.11, 95% CI 1.00–1.23; p <.05; n = 6 studies; I2 = 0%) and (b) oral clefts (OR 1.22, 95% CI 1.00–1.49; p <.05; n = 4 studies; I2 = 0%). No significant association was observed for the risk of cleft palate but, when excluding the study that contributed to the study heterogeneity, we found an OR of 1.48 (95% CI 1.19–1.84; p <.01; n = 5 studies; I2 = 0%). No statistically significant association was found for MCM, overall cardiac malformations, atrial septal defects and cleft lip with or without cleft palate. Exploratory investigations of other malformations showed an increased risk of diaphragmatic hernia, hypoplastic left heart and "respiratory system anomalies." [ABSTRACT FROM AUTHOR]

It is estimated that 80% of the world population trusts traditional medicine. A large number of Americans use infusions of Bocconia frutescens L. leaves to treat cough and gastrointestinal disorders. However, phytochemical studies reveal that this plant contains alkaloids and other potentially harmful substances. This study aimed to evaluate the teratogenic effects of B. frutescens L. in an experimental model. Pregnant Wistar rats were administered lyophilized B. frutescens L. extract at 300 mg/kg/day or vehicle by orogastric route during the organogenesis period (gestation days 7–13), and external and internal congenital malformations were analyzed on the progeny on gestational day 20. Bocconia frutescens L. produced a significant increase in the number of different malformations, relative to the control group. We conclude that the consumption of B. frutescens L. during pregnancy at a dose equivalent to that consumed by humans increases the risk of teratogenic effects. [ABSTRACT FROM AUTHOR]

The authors report on a patient with Chiari I malformation associated to Waardenburg phenotype, multiple malformations, osteochondrodysplasia and microdeletion of 1q21,1 chromosome, of which they underline the rarity. The pathogenesis connected to the features of neural crest cells-derived structures with mesodermal-derived tissues, mainly in the facial and boundary region of malformed posterior cranial fossa, is discussed. The authors hypothesize that chromosomal microdeletion, acting directly or on contiguous gene(s) or by long range control of gene expression, have modified the function of some developmental genes, causing consequently the association of symptoms observed in the patient. [ABSTRACT FROM AUTHOR]

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Objective: To assess the outcomes in women with epilepsy in relation to fetal malformation and epileptic seizure control during pregnancy when valproate (VPA) intake was ceased, or the drug's dose was reduced before pregnancy. Methods: Statistical analysis of data collected in the Australian Pregnancy Register between 1999 and 2018 concerning 580 pregnancies previously treated with VPA, with the VPA dose reduced or the drug withdrawn prior to pregnancy in 158 cases. Results: Although the available data have limitations, fetal malformation rates in the pregnancies studied were lower in the VPA changed pregnancies (4.5%) than in the VPA unchanged comparator pregnancies (10.9%, hazard ratio [HR] 0.412, 95% confidence interval [CI] 0.190‐0.892), and were only 2.7% where VPA intake was ceased before pregnancy (HR 0.262, 95% CI 0.083‐0.826). Seizure‐affected pregnancies were more frequent in the VPA changed pregnancies than in the VPA unchanged ones (46.2% vs 30.8%, HR 1.500, 95% CI 1.203‐1.870). Convulsive seizure‐affected pregnancies also were increased, but the difference was not statistically significant. Significance: Prepregnancy reduction in VPA dosage reduced the hazard of fetal malformations, whereas ceasing intake of the drug decreased the hazard to one similar to that which applies in the general population, but at a cost of decreased control of epileptic seizures during the pregnancies studied. Further investigations are needed to see whether such findings apply more widely in women with epilepsy. [ABSTRACT FROM AUTHOR]

Background: Data on pregnancy outcomes in women with psoriasis are conflicting.Objective: We examined whether maternal psoriasis affects the risk of adverse maternal and pregnancy outcomes.Methods: We used population-based data to compare reproductive patterns in women with and without psoriasis. Odds ratios (ORs) with 95% confidence intervals (CIs) for adverse outcomes were estimated with adjustments for maternal age, period of childbirth, smoking, and prepregnancy body mass index.Results: Compared with women without psoriasis, women with psoriasis were younger at first birth and had longer interpregnancy intervals but did not differ in final parity. Risk estimates in women with psoriasis were elevated for pregnancy hypertension (OR, 1.37; 95% CI, 1.19-1.58), premature rupture of membranes (OR, 1.15; 95% CI, 1.04-1.27), large for gestational age (OR, 1.11; 95% CI, 1.01-1.21), cleft palate (OR, 1.69; 95% CI, 1.07-2.66), and unspecified malformations (OR, 1.08; 95% CI, 1.01-1.16).Limitations: No information was available on lifestyle, disease severity, or type and duration of treatment. Small numbers hampered the assessment of rare outcomes.Conclusion: Although there was no evidence that fertility is negatively affected, women with psoriasis were at an increased risk of several adverse maternal and pregnancy outcomes. Our findings add to a growing body of evidence that pregnancies in women with psoriasis need special monitoring. [ABSTRACT FROM AUTHOR]

Dandy-Walker malformation (DWM) may occur as part of Mendelian disorders such as Walker-Warburg and Meckel-Gruber syndromes. We report a novel association with type III lissencephaly in a 22-week male fetus. Ultrasound showed fetal akinesia deformation sequence, single umbilical artery, microlissencephaly, hydranencephaly with cerebral lamination, DWM, and pontocerebellar hypoplasia. These abnormalities were confirmed by magnetic resonance imaging and autopsy, which also revealed pulmonary and adrenal hypoplasia, common mesentery and bilateral uretero-pyelo-calyceal dilatation. Neuropathological examination showed brain calcifications and diffuse neuronal degeneration. We conclude that DWM may be a feature of type III lissencephaly and that this association can be easily diagnosed by ultrasound. [ABSTRACT FROM AUTHOR]

Objectives: Single umbilical artery (SUA) is associated with congenital malformations in most organ systems, but reported findings have not been consistent. While it has been suggested that genetic and persisting environmental factors influence the development of SUA, it is not known whether there is an increased risk of recurrence in a subsequent pregnancy of the same woman. The aims of this study were to investigate the occurrence of, and risk factors for, SUA in Norway, to assess its association with congenital malformations and trisomies 13, 18 and 21 and to study the risk of recurrence of SUA in subsequent pregnancies.Methods: This was a population-based study of all (n = 918 933) singleton pregnancies of > 16 weeks' gestation recorded in the Medical Birth Registry of Norway from 1999 to 2014. To identify risk factors and congenital malformations associated with SUA, generalized estimating equations and logistic regression were used to calculate odds ratios (OR) with 95% CIs. ORs were also calculated for the recurrence of SUA in subsequent pregnancy.Results: The occurrence of SUA in our population was 0.46% (4241/918 933). Parity ≥ 4, smoking, maternal pregestational diabetes, epilepsy, chronic hypertension, previous Cesarean delivery and conception by assisted reproductive technology increased the odds of having SUA. There was a particularly strong association between SUA and gastrointestinal atresia or stenosis in the neonate, with ORs of 25.8 (95% CI, 17.0-39.1) and 20.3 (95% CI, 13.4-30.9) for esophageal and anorectal atresia or stenosis, respectively, followed by an OR of 5.9 (95% CI, 1.9-18.5) for renal agenesis. SUA was associated with an up to 7-8 times increased risk of congenital heart defects. There was an association with microcephaly, congenital hydrocephalus and other congenital malformations of the brain and spinal cord. Diaphragmatic hernia, limb reductions and cleft lip or palate had a weaker association with SUA, with ORs ranging from 4.8 to 2.8. The associations with trisomy 18 and 13 were equally strong (OR 14.4 (95% CI, 9.3-22.4) and OR 13.6 (95% CI, 6.7-27.8), respectively), and the risk of trisomy 21 was doubled (OR 2.1 (95% CI, 1.2-3.6)). Pregnancies with SUA, with or without an associated malformation, had a 2-fold increased risk for SUA in a subsequent pregnancy.Conclusions: SUA is associated strongly with gastrointestinal atresia or stenosis, suggesting common developmental mechanisms. The increased risk of recurrence of SUA suggests that genetic and/or persisting environmental factors influence the risk. We found that SUA had equally strong associations with trisomies 13 and 18. © 2019 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of the International Society of Ultrasound in Obstetrics and Gynecology. [ABSTRACT FROM AUTHOR]

Background There are noted birth defects prevalence differences between race/ethnicity groups. For instance, non‐Hispanic (NH) Black mothers are more likely to have an infant with encephalocele, although less likely to have an infant with anotia/microtia compared to NH Whites. When stratifying by nativity and years lived within the United States, additional variations become apparent. Methods: Data from the National Birth Defects Prevention Study were used to calculate descriptive statistics and estimate crude/adjusted odds ratios (aORs) and 95% confidence intervals (95%CIs) among NH Blacks with one of 30 major defects and non‐malformed controls. Total case/controls were as follows: U.S.‐ (2,773/1101); Foreign‐ (343/151); African‐born (161/64). Study participants were also examined by number of years lived in the U.S. (≤5 vs. 6+ years). Results: Compared to U.S.‐born, foreign‐born NH Black controls tended to be older, had more years of education, and were more likely to have a higher household income. They also had fewer previous livebirths and were less likely to be obese. In the adjusted analyses, two defect groups were significantly attenuated: limb deficiencies, aORs/95%CIs = (0.44 [0.20–0.97]) and septal defects (0.69 [0.48–0.99]). After stratifying by years lived in the United States, the risk for hydrocephaly (2.43 [1.03–5.74]) became apparent among those having lived 6+ years in the United States. When restricting to African‐born mothers, none of the findings were statistically significant. Conclusions: Foreign‐born NH Blacks were at a reduced risk for a few selected defects. Results were consistent after restricting to African‐born mothers and did not change considerably when stratifying by years lived in the United States. [ABSTRACT FROM AUTHOR]

Introduction. Esophageal atresia (EA), typically occurring with tracheoesophageal fistula (TEF), is one of the most common digestive malformations; 50% of the esophageal atresia cases associate other malformations, syndromes or association of congenital abnormalities. EA is also met in patients with Edwards syndrome, Down syndrome, Di George syndrome and Pierre Robin syndrome. Delayed diagnosis of EA associated anomalies leads to increased morbidity and mortality, especially in patients with two or more associated abnormalities. Our study aims to highlight EA associated anomalies and to evaluate their impact on mortality. Materials and methods. We conducted a retrospective study of all newborns admitted in the Neonatal Intensive Care Unit of "Grigore Alexandrescu” Emergency Clinical Hospital for Children, with the diagnosis of esophageal atresia/ tracheoesophageal fistula (TEF), between January 2013 and December 2018; we evaluated demographic information, clinical manifestation, the ultrasound and radiological results. Our study aimed to highlight AE associated anomalies and to evaluate their impact on mortality. Results. 56 newborns with esophageal atresia/ tracheoesophageal fistula diagnosis were identified. 31 of them were boys, and 22 patients had gestational age (GA) between 32 and 36 weeks. Five newborns came from twin pregnancies. EA/ TEF associated anomalies were identified in 35 patients; the most frequent of those were cardiac anomalies (identified in 25 patients). The association of 3 anomalies from VACTERL spectrum (vertebral, anorectal, cardiac, EA/ TEF, renal and urinary, and limb lesions) was seen in 11 newborns. The estimated risk of death was lightly increased in females and in patients from urban area; the patients with limb anomalies had an estimated risk of death 5 times higher (p = 0.043). Conclusions. EA is a complex pathology both by the malformations and genetic syndromes that can be associated with it, and by the complications that occur in evolution. Antenatal diagnosis of EA and of the associated anomalies, along with multidisciplinary care, represent important measures in order to avoid underdiagnosis of associated problems. [ABSTRACT FROM AUTHOR]

A still born male baby with tetra-amelia syndrome is reported, with craniofacial abnormalities and pulmonary agenesis. It presented complete absence of all four limbs in association with cleft lip and palate on the right side. The mother medical history revealed no remarkable details. The fetus died shortly after its birth. The embryonic correlation of the case is discussed. Proper health education, antenatal screening and genetic counseling can reduce the risk of such congenital anomalies. [ABSTRACT FROM AUTHOR]

Detection of PAVMs with a feeding artery of less than 3 mm limits the use of CE as an exclusive screening test for PAVM in cases where there might not be an indication to treat or as control for growth of the PAVM. Although unproven, venous sac embolisation may reduce the incidence of recanalisation of PAVMs compared to feeding artery embolisation (level of evidence 3b) [[32]]. I B i Balloon embolisation, I NR i not reported, I C i coil embolisation SP a sp The number of PAVM for which embolisation was attempted SP b sp The number of PAVM that were successfully occluded SP c sp Of 18 complications, 12 were reported as minor, two as moderate (transient confusion) and four as potentially serious (two dislodged coils, one transient cerebrovascular accident and one myocardial puncture). Transcatheter embolisation therapy is the preferred therapy in the management of PAVMs. [Extracted from the article]

The success of new antiretroviral medicines for HIV resulted in a change to guidelines of standard therapy where continuation of antiretroviral therapy is recommended to maintain the low viral load during pregnancy, thereby preventing transmission of the virus to the fetus. As a result, pregnancy related exposure to HIV medicines has increased. Understanding the safety of these medicines during pregnancy is of paramount importance to ensure health of mothers and their offspring; well‐designed animal studies that evaluate the reproductive life cycle play a key role in this effort. As part of the medicine development program for dolutegravir (DTG), a series of reproductive and developmental toxicity studies were conducted using rats and rabbits. In a fertility study, where exposure to DTG occurred in female rats before mating through conception and up to implantation of the embryo, no effects on reproductive cycles, ovulation, fertility) or preimplantation embryonic growth were observed. In rat and rabbit embryo–fetal development studies, where exposure to DTG occurred during organogenesis, no malformations or other developmental abnormalities were observed. In a rat pre‐ and post‐natal development study, where DTG exposure to the pups occurred during pregnancy and postnatally via milk, no malformations or other developmental abnormalities were observed. In these studies, no DTG‐related effects occurred on fertility, embryonic (pre‐ and post‐implantation loss, resorptions, abortions, and malformations) or fetal development where the multiples of exposure at the maximum recommended human dose were up to 27 times higher in rats or below the human exposure in rabbits. [ABSTRACT FROM AUTHOR]

This study describes an image analysis method that has been used to analyze the swimming behavior of native oyster D-larvae (Crassostrea gigas) from the Arcachon Bay (SW, France). In a second time, this study evaluated the impact of copper and S-metolachlor pollutants on D-larvae swimming activity and the possible relationship between developmental malformations and abnormal swimming behavior. Analyses in wild and cultivated oyster D-larvae were investigated during two breeding-seasons (2014 and 2015) at different sampling sites and dates. In controlled conditions, the average speed of larvae was 144 μm s−1 and the maximum speed was 297 μm s−1 while the trajectory is mainly rectilinear. In the presence of environmental concentration of copper or S-metolachlor, no significant difference in maximum or average larval speed was observed compared to the control condition but the percentage of circular trajectory increased significantly while the rectilinear swimming larvae significantly declined. The current study demonstrates that rectilinear trajectories are positively correlated to normal larvae while larvae with shell anomalies are positively correlated to circular trajectories. This abnormal behavior could affect the survival and spread of larvae, and consequently, the recruitment and colonization of new habitats. [ABSTRACT FROM AUTHOR]

Agricultural activity, especially the increasing use of pesticides, is considered one of the main reasons for the decline of amphibian populations. Mancozeb (MCZ) is one of the most used fungicides worldwide, despite its ancient use and toxicity demonstrated in different taxa. However, there is limited information about the effects of MCZ in amphibians, which are keystones of riparian ecosystems. For species conservation purposes, it is essential to identify the most sensitive developmental period(s) of a given species to a xenobiotic. We evaluated the toxicity of a commercial fungicide of mancozeb, (80% active ingredient) on the early development of the common South American toad Rhinella arenarum (Anura, Bufonidae). Embryos from early blastula (S.4) and larvae from complete operculum (S.25) stages were exposed to a wide range of MCZ concentrations during acute, subchronic and chronic exposure (up to 504 h) periods. The toxicity profiles for lethal and sublethal effects were performed. At all exposure times, MCZ was more toxic to embryos, for instance, NOEC 504 h were 0.01 and 0.05 mg MCZ/L for embryos and larvae, respectively. Thus, embryo sensitivity was 5-fold higher than larvae. A Teratogenic Index of 14 indicated the significant teratogenic potential of this fungicide. Among sublethal effects, embryos exhibited a wide range of abnormalities with high incidence. The ecological risk assessment demonstrated that the estimated Risk Quotient value for Rhinella arenarum embryos at chronic exposure was higher than the Level of Concern value, which warns about the potential risk of MCZ for this native species. [ABSTRACT FROM AUTHOR]

We present a 7-year-old boy with tuberous sclerosis and congenital segmental lymphedema (CSL) of the left leg, as well as two aortic aneurysms. He was treated with everolimus (EVE) since the age of 14 months. His CSL regressed under treatment with EVE. His first aneurysms required operative intervention at age of 17 months. Four months afterward a new aortic aneurysm had been detected above the Dracon graft, but this one remained stable since that time. The patient didn't experience severe side effects. EVE has been well tolerated without disturbance of somatic growth or serious adverse effect. [ABSTRACT FROM AUTHOR]

Relevance. The small intestine in mammals and humans in particular, is involved in ensuring homeostasis, harmonious activity of the functional systems of the body due to the perfect integration of the regulatory systems of the body, and the inverse relationship of their central and peripheral parts. Purpose of the study. Study of morphological aspects and clinical features of congenital malformations of the small intestine in newborns in regions with varying degrees of application of chemical plant protection products and the results of their surgical treatment. Material and research methods. The study material was the small intestine of operated neonatal patients with congenital malformations of the small intestine in the neonatal surgery department of Clinic No. 2 of SamSMI for the period from 2009 to 2017. The subject of the study was a comprehensive study of the clinic, treatment and morphology of congenital small bowel obstruction in newborns. Research results and discussion. The impact of pesticides on the body of pregnant rabbits and the intrauterine effect of these chemicals on the developing fetus and internal organs can cause the development of congenital malformations, in particular the intestinal tube. [ABSTRACT FROM AUTHOR]

Conjoined twins are a rare malformation of monozygotic and mono-amniotic twin pregnancies. We report the case of a patient in whom dicephalic conjoined twins was diagnosed in the antenatal period at 37 week amenorrhea. Fetal prognosis is very poor and, if the diagnosis has been made early, it most often requires therapeutic abortion. The purpose of this case study was to remind clinicians of this very rare disease, of the importance of ultrasound as an essential diagnostic tool to implement a strategy to manage patients in the postpartum period and of prognosis which is most often very guarded. [ABSTRACT FROM AUTHOR]

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There is increasing interest in novel prognostic tools and predictive biomarkers to help identify, with more certainty, cerebral cavernous malformations (CCM) susceptible of bleeding if left untreated. We developed explainable quantitative-based machine learning models from magnetic resonance imaging (MRI) in a large CCM cohort to demonstrate the value of artificial intelligence and radiomics in complementing natural history studies for hemorrhage and functional outcome prediction. One-hundred-eighty-one patients from a prospectively registered cohort of 366 adults with CCM were included. Fluid attenuated inversion recovery (FLAIR) T2-weighted brain images were preprocessed, and CCM and surrounding edema were segmented before radiomic feature computation. Minority class oversampling, dimensionality reduction and feature selection methods were applied. With prospective hemorrhage as primary outcome, machine learning models were built, cross-validated, and compared using clinico-radiologic, radiomic, and combined features. SHapley Additive exPlanations (SHAP) was used for interpretation to determine the radiomic features with most contribution to hemorrhage prediction. The highest performances in hemorrhage predictions on the test set were combining radiomic and clinico-radiological features with an area under the curve (AUC) of 83% using linear regression and selected features, and an F1 score of 61% and 85% sensitivity using K-nearest neighbors with principal component analysis (PCA). Multilayer perceptron had the best performance predicting modified Rankin Scale ≥ 2 with an AUC of 74% using PCA derived features. For interpretation of the selected radiomic signature XGBoost model, Shapley additive explanations highlighted 6 radiomic features contributing the most to hemorrhage prediction. Quantitative image-based modeling using machine learning has the potential to highlight novel imaging biomarkers that predict hemorrhagic and functional outcomes, ensuring more precise and personalized care for CCM patients. [ABSTRACT FROM AUTHOR]

D'un point de vue statistique, un enfant siffleur chronique est a priori asthmatique. Cette réalité écrasante ne devrait pas masquer d'autres diagnostics dont le retard de prise en charge peut avoir des conséquences néfastes : corps étranger méconnu, syndrome médiastinal, maladie parenchymateuse. Pour le praticien, un débrouillage clinique et radiologique permet généralement d'identifier des points d'appel atypiques qui doivent orienter l'enfant vers une consultation spécialisée. Le diagnostic final peut être différentiel, mais aussi celui d'une comorbidité dont la prise en charge permettra de stabiliser un asthme avéré répondant mal au traitement de fond. Statistically speaking, a child with chronic wheeze is likely to have asthma. This overwhelming fact should not obliterate alternate diagnoses and the potential for serious consequences: unrecognized foreign body, mediastinal syndrome, chronic lung disease. Detecting unusual features – clinical or radiological – must make the child referred to a specialised consultation. The ultimate diagnosis is either differential or the one of a comorbidity, the management of the latter allowing better asthma control. [ABSTRACT FROM AUTHOR]

Fall armyworm Spodoptera frugiperda is a major pest of corn, rice, and sorghum among other crops usually controlled using synthetic or biological insecticides. Currently, the new invention of nanotechnology is taking root in the agricultural industry as an alternative source of pest management that is target-specific, safe, and efficient. This study sought to determine the efficacy of commercial Zinc Oxide (ZnO) nanoparticles (NPs) towards S. frugiperda under laboratory conditions. ZnO NPs were diluted into different concentrations (100–500 ppm), where the baby corn used to feed the S. frugiperda larvae was dipped. The development of the insect feeding on food dipped in ZnO solution was significantly (p < 0.05) affected, and the number of days that the insect took to complete its life cycle had a significant difference compared to the control. There was a significant difference in the adults’ emergence in all the concentrations of ZnO NPs compared to the control, with over 90% of the eggs successfully going through the life cycle until adult emergence. Additionally, several body malformations were observed throughout the lifecycle of the insect. Also, the fecundity of the females was greatly affected. The findings of this study suggest the possibility of exploitation of ZnO nanoparticles not only to manage S. frugiperda but to significantly reduce their population in the ecosystem through body deformations, reduced fecundity, reduced oviposition, and hatchability of eggs. It will be a valuable tool in integrated pest management regimens.