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Objective: We aimed to investigate whether idiopathic cuneate gyrus herniation (ICH) is an anomaly or a normal variant, its prevalence, whether there is a coexisting finding or pathology, as well as to characterize it with magnetic resonance imaging (MRI) findings. Method: We evaluated 0-17-year-olds’ brain MR images from January 2021-August 2023 at our clinic. Standard brain protocols utilize 1.5 Tesla MRI scanners. ICH and congenital brain abnormalities were evaluated in optimal brain MRIs. Malformations were classified as posterior fossa anomalies (PFA), commissural and cortical developmental anomalies (CCDA), and midline malformations. Results: Our study comprised 691 pediatric brain MRIs with a mean age of 5.93±3.4 years, with 48.77% male and 51.23% female. The mean age of 32 ICH (+) patients was 6.19±4.02 years, with 40.63% male and 59.37% female. The prevalence of ICH was 32/691 (4.6%). In 63 (9.11%) congenital brain malformation patients, ICH presence differed (p=0.005). Congenital brain malformation patients with ICH showed a significantly higher PFA rate (n=8) than without ICH. The frequency of CCDA (n=23) and the association of PFA and CCDA (n=12) were significantly higher in ICH patients with congenital brain malformation. The frequency of congenital brain malformation was higher in 32 ICH (+) patients, with a rate of 50% (p<0.001). Conclusion: We found that ICH is more frequent than reported and may be associated with congenital brain malformations. ICH must be differentiated from pathology to avoid unnecessary procedures. Congenital brain abnormalities may accompany ICH and should be carefully screened. [ABSTRACT FROM AUTHOR]

Simple Summary: This report characterized complete thoracic ectopia cordis (EC) affecting two newborn lambs from different locations in Brazil, contributing to the knowledge about this rare condition in sheep. Two male newborn lambs presented exteriorized hearts without pericardial coverage, delineated in the thoracic cleft by a fibrous ring of the pericardium and adjacent skin. Clinical findings in the lambs, aside from the EC, were unremarkable. EC is an extremely rare congenital malformation in sheep, with limited cases documented globally. The pathogenesis and etiology remain uncertain, involving potential genetic and environmental factors. Cardiac congenital defects related to inheritance and teratogenesis have been reported in veterinary species and humans worldwide. Among these, ectopia cordis (EC), characterized by an externalized heart through a cleft, is extremely rare in sheep. This report presents the diagnostic features of two cases of complete thoracic EC in newborn lambs. Clinical findings in the lambs, aside from the EC, were unremarkable. Both animals exhibited exteriorized hearts without pericardial coverage, delineated in the thoracic cleft by a fibrous ring of the pericardium and adjacent skin. Histologically, the epicardium was thickened by fibrous tissue in both lambs, with one animal also showing marked edema, hemorrhage, and neutrophilic inflammatory infiltration. The prognosis of EC in the lambs of this study was poor, with fatal outcomes despite attempts at surgical correction. [ABSTRACT FROM AUTHOR]

Limb anomalies are widespread and diversified in arthropods. From trilobites to insects, they range from the loss to the addition or fusion of legs and may appear congenitally or be induced experimentally (e.g., amputation or injury). Basal chelicerates pycnogonids, or sea spiders, also show deformities. Despite being understudied compared to other arthropods, quite a high diversity of limb malformations has been reported in the literature. The present study reports the leg anomalies of two adult females Ammothea hilgendorfi (Böhm, 1879) observed with duplicated leg podomeres. Both individuals were described ethologically and morphologically. Although the current knowledge on pycnogonids is limited, the anomaly is likely due to a problem in the molting process; the specimens were unable to totally remove their old exuviae, which then stacked after the proximal leg segments. The second specimen also showed other leg deformities, hinting at a problem during the molting process itself. The discussion emphasizes that understanding how pycnogonids normally molt would not only help our understanding of how the abnormal patterns appeared but also put pycnogonids into perspective with other arthropods, a phylum in which they have a key taxonomic position. [ABSTRACT FROM AUTHOR]

The first patient, a 10-year-old girl, presented with pancytopenia and recurrent epistaxis, along with a history of repeated upper respiratory infections, café-au-lait spots, and microcephaly. Genetic testing revealed compound heterozygous mutations in the DNA ligase IV (LIG4) gene, leading to a diagnosis of LIG4 syndrome. The second patient, a 6-year-old girl, was seen for persistent thrombocytopenia lasting over two years and was noted to have short stature, hyperpigmented skin, and hand malformations. She had a positive result from chromosome breakage test. She was diagnosed with Fanconi anemia complementation group A. Despite similar clinical presentations, the two children were diagnosed with different disorders, suggesting that children with hemocytopenia and malformations should not only be evaluated for hematological diseases but also be screened for other potential underlying conditions such as immune system disorders. [ABSTRACT FROM AUTHOR]

Les urgences chirurgicales néonatales regroupent un ensemble d'affections qui nécessitent une prise en charge immédiate et adéquate en raison d'une menace vitale ou fonctionnelle. Notre travail a pour but de déterminer la fréquence et les facteurs épidémiologiques ainsi que le pronostic à court et moyen termes. Nous rapportons une étude rétrospective des urgences chirurgicales néonatales colligées sur une période de 12 mois. Ont été inclus, tous les nouveau-nés admis dans le cadre d'une urgence chirurgicale, opérés ou non, durant la période néonatale. Les anomalies étaient dominées par 46,5 % par le tableau d'occlusion néonatale, 18,6 % des nouveau-nés avaient une atrésie de l'œsophage, 10,4 % une anomalie de la paroi abdominale, 9,3 % une anomalie thoracique et 5,8 % des anomalies neurologiques, 3,4 % admis pour des malformations de l'arbre urinaire et anomalies ORL et 2,3 % une cause tumorale. Sur le plan thérapeutique 79 % des nouveau-nés avaient bénéficié d'un geste chirurgical. L'évolution clinique est marquée par le décès de 32 patients, soit 37 %. Les urgences chirurgicales néonatales requièrent une prise en charge immédiate et adéquate. D'où l'intérêt du suivi des grossesses et du diagnostic anténatal et de l'examen systématique et minutieux du nouveau-né en salle de naissance afin d'améliorer la prise en charge et le pronostic. Neonatal surgical emergencies include conditions that require immediate and adequate management due to a vital or functional threat. Our paper aims to determine the frequency and epidemiological factors as well as the short- and long-term prognosis. We report a retrospective study of neonatal surgical emergencies collected over a period of 12 months. Included were all newborns admitted as part of a surgical emergency, operated on or not, during the neonatal period. The anomalies were dominated by 46.5% by the neonatal occlusion, 18.6% of the newborns had esophageal atresia, 10.4% an abdominal wall anomaly, 9.3% a thoracic anomaly and 5.8% neurological abnormalities, 3.4% admitted for malformations of the urinary tree and ENT abnormalities and 2.3% a tumor cause. Therapeutically, 79% of newborns had benefited from a surgical procedure. The clinical evolution is marked by the death of 32 patients that is 37%. Neonatal surgical emergencies require immediate and adequate management. Hence, the interest of monitoring pregnancies and antenatal diagnosis and systematic and careful examination of the newborn in the birth room in order to improve management and prognosis. [ABSTRACT FROM AUTHOR]

Purpose: Vascular anomalies are classified as either vascular tumors or vascular malformations. Vascular malformations can be difficult to diagnose and treat in the pediatric population and can masquerade as malignant processes. Understanding the genetics behind vascular malformations can lead to identification of specific mutations which can be treated with targeted immunotherapy. Methods: Our case presents a pediatric patient with progressively enlarging vascular malformation despite multiple surgical resections and systemic medical treatments who underwent genetic evaluation and was found to have PIK3CA mutation. Results: After identification of PIK3CA mutation, our patient was successfully treated with the p110ɑ-specific inhibitor, alpelisib, with both shrinkage of malformation on follow-up imaging as well as gains in her developmental milestones. Conclusion: Progressive vascular malformations in the pediatric population can be hard to diagnose and treat and are thought to arise from somatic mutations. Our case highlights a patient with progressive malformation despite multiple surgical resections who was successfully treated with targeted immunotherapy after proper identification of genetic mutation. [ABSTRACT FROM AUTHOR]

Beak deformity have a frequency of 0.5% in wild bird populations. In addition to being rare, beak deformities are also poorly reported in the Brazilian scientific literature. Here we report beak deformities in the species: Dendrocincla merula, Amazona ochrocephala and Pheugopedius genibarbis, all of which occurred in southwestern Brazilian Amazon. Dendrocolaptids make intensive use of their beaks in the search for insects and small vertebrates, where they explore in cracks in wood with lateral blows. In the case presented here, this behaviour may have been the cause of the breakage of the tip of this individual's maxilla. In Brazilian territory, few species of parrots were recorded with deformity in the beak and in the individual in this work, everything indicates that Amazona ochrocephala was a captive animal, as it was excessively thin and its diet probably had a low content of vitamins and calcium, where their deficiency even when the animal was a puppy may have contributed to the deformity of the maxilla. Cases of beak deformities in species of the Troglodytidae family are rare, but the individual in this work presented an unusual curvature in the maxilla not observed in other individuals in museum collections. Only with more reports will we be able to better understand the occurrence and causes of these beak deformities in wild birds. [ABSTRACT FROM AUTHOR]

Simple Summary: Malformations of the cervicothoracic junction have been described in modern horses as well as in skeletons from museums. In the present study, we examined five historical skeletons for signs of malformations of the cervicothoracic junction and were able to detect malformations of C6/C7 in three of the five historical horses. These three historical horses were the Thoroughbred stallions Dark Ronald XX, Der Loewe XX and Birkhahn XX. The two younger stallions Der Loewe XX and Birkhahn XX had a common great grandsire with Dark Ronald XX. Twenty living German Warmblood horses, descendants of these historical stallions, were recruited for evaluation for the malformation of C6/C7. For the modern horses, we estimated the inbreeding coefficient according to Wright through their ancestors of the last 110 years, which equals 11 generations, and quantified the blood percentages and the contribution to the inbreeding of the historical stallions in percentages. Our analyses showed that the C6/C7 malformations were highly variable in the historical horse family, with Dark Ronald XX, Der Loewe XX and Birkhahn XX being affected uni-laterally at C6 and C7, uni-laterally at C6 and bi-laterally at C6 and C7, respectively. In this sample of distant descendants of the historical stallions with C6/C7 malformation, a segregation between horses with and horses without C6/C7 malformation was demonstrated. Further studies with large samples and in-depth pedigree analyses will be warranted to show the effects of influential sires on the occurrence of malformations of the cervicothoracic junction in today's Warmblood population. Malformations of the equine cervicothoracic junction affect the C6 and C7 cervical vertebrae, the T1 thoracic vertebra and in variable extent the first and second sternal ribs. To date, the clinical impact of this malformation, its prevalence and mode of inheritance in equine populations are not yet determined. We examined five skeletons for signs of malformation of the cervicothoracic junction, including three skeletons from widely used Thoroughbred stallions affected with the malformation and two skeletons serving as a comparison. The three affected historical horses were the Thoroughbred stallions Der Loewe XX, Birkhahn XX and their common great grandsire Dark Ronald XX. Malformations of C6 and C7 showed a large variation between the three stallions, as Dark Ronald XX, Der Loewe XX and Birkhahn XX were affected uni-laterally at C6 and C7, uni-laterally at C6 and bi-laterally at C6 and C7, respectively, with varying grades. In order to evaluate whether or not these malformations are incidental, we took a random sample of 20 living German Warmblood horses, which are distant descendants of these stallions. This sample consisted of ten controls and ten horses with malformations of C6/C7. Blood proportions of the historical sires in the modern Warmblood horses ranged from 0.10 to 6.25%. The contribution to inbreeding in each individual horse of our selected horse group by those sires was expressed as a percentage of the total inbreeding coefficient and ranged from 0.01 to 17.96%, demonstrating their influence on the modern Warmblood. In the present study, we were able to describe the variability of the malformation of C6/C7 within a horse family including historic and modern horses. Additionally, we detected variations appearing in connection with malformations of the cervicothoracic junction that have not been described in the literature yet. This is the first time that the malformations of C6 and C7 have been described within a familial context, providing hints on inheritance in Thoroughbreds and Warmbloods. It is worthwhile to carry out further studies in a larger setting to gain more comprehensive insights into the inheritance of the malformation and the role of important ancestors. [ABSTRACT FROM AUTHOR]

Background: Annular pancreas (AP) is a congenital defect of unknown cause in which the pancreas encircles the duodenum. Theories include abnormal migration and rotation of the ventral bud, persistence of ectopic pancreatic tissue, and inappropriate fusion of the ventral and dorsal buds before rotation. The few reported familial cases suggest a genetic contribution. Methods: We conducted exome sequencing in 115 affected infants from the California birth defects registry. Results: Seven cases had a single heterozygous missense variant in IQGAP1, five of them with CADD scores >20; seven other infants had a single heterozygous missense variant in NRCAM, five of them with CADD scores >20. We also looked at genes previously associated with AP and found two rare heterozygous missense variants, one each in PDX1 and FOXF1. Conclusion: IQGAP1 and NRCAM are crucial in cell polarization and migration. Mutations result in decreased motility which could possibly cause the ventral bud to not migrate normally. To our knowledge, this is the first study reporting a possible association for IQGAP1 and NRCAM with AP. Our findings of rare genetic variants involved in cell migration in 15% of our population raise the possibility that AP may be related to abnormal cell migration. [ABSTRACT FROM AUTHOR]

Observations of skeletal malformations in fish in the wild are poorly documented and need to be investigated. Here we report the occurrence of body shortening in specimens of Plagioscion squamosissimus collected in the Volta Grande do Xingu, middle Xingu River region (Pará, Brazil), during a 12-month monitoring program (2021–2022). We observed morphological anomalies in nine individuals, of which two underwent radiographic analysis, recording the fusion and compression of vertebrae in different portions of the spine. The average percentage decrease in body length resulting from the deformity was 23.8%. This is the first record of malformation in this species. [ABSTRACT FROM AUTHOR]

Wild animals are increasingly exposed to human‐induced threats in the ocean realm. Cetacean species, as predators and biomonitoring models, are subjected to a variety of stressors that may result in poor health, injuries, and persistent marks. These malformations can easily be documented by photography or video and can be used to infer about the animals' health, especially if combined with long‐term photographic identification. However, the value of such information for monitoring is vastly increased if a standardised language is used. We provide a broad definition of deformity, as a general concept for conditions or abnormal features in cetacean species, and categorise externally detected deformities in free‐ranging individuals.We define six categories and 58 sub‐categories of deformities in cetaceans: anatomical malformations (11 sub‐categories), skin lesions (29), anomalous pigmentation (4), injuries due to physical impacts (14), emaciation, and epibionts.Categorisation was based on peer‐reviewed literature published between 2000 and 2021 (n = 253 studies), comprising 80 of the 101 extant species, documented in studies conducted across 50 countries; reviewed literature included papers from 86 scientific journals, with three journals contributing 100 out of the 253 documents.Overall, and for both Odontoceti and Mysticeti, physical impact was the most reported category; injuries due to physical impacts were documented in 74% of the 253 studies we reviewed. This may be related to the common exposure of cetaceans to intense human marine traffic and fishing activities.Especially with the growing use of open science, a consistent and common language is fundamental for data comparison and to support cetacean research, management and conservation efficiently. We suggest that researchers adopt these definitions and categories when describing abnormalities observed in free‐living cetaceans. [ABSTRACT FROM AUTHOR]

Purpose: Malformations of the craniovertebral junction (CVJ) range from mild, asymptomatic conditions to severe forms of instability with basilar invagination. Rarely, there have been accounts of forms of so-called paramedian basilar invagination, with abnormal bone masses invading the lateral portion of the foramen magnum. All these entities have been comprehensively classified both from an anatomical and embryological standpoint. Methods: Here, we report a case of a unique CVJ malformation which is not included in any existing classification framework and could represent a novel pathologic entity. We also provide an overview of the pertinent literature. Results: The patient was a 14-year-old boy with a recent onset of spastic tetraparesis. Radiological studies documented a malformation of the atlas which invaginated through the foramen magnum, causing anterolateral medullary incarceration. Surgical treatment involved posterior decompression with resection of the abnormal bone and occipito-cervical fusion. Conclusion: Our report enriches the panorama of CVJ malformations, showing how anatomical knowledge and embryological insights constitute the basis for the correct assessment and treatment of these complex entities. [ABSTRACT FROM AUTHOR]

This report aimed to present a case of ectrodactyly in a free-living adult female Erinaceus europaeus. At radiography and post-mortem dissection, the right hind limb developed 2 digits and aplasia of 3 digits. No other abnormality was found in this case. Various teratogens may be responsible for occurring skeletal anomalies. To the best of our knowledge, the present study is the first report of ectrodactyly in this species. [ABSTRACT FROM AUTHOR]

Oceanic calcifying plankton such as coccolithophores is expected to exhibit sensitivity to climate change stressors such as warming and acidification. Observational studies on coccolithophore communities along with carbonate chemistry provide important perceptions of possible adaptations of these organisms to ocean acidification. However, this phytoplankton group remains one of the least studied in the northern Indian Ocean. In 2017, the biogeochemistry group at the Council for Scientific and Industrial Research-National Institute of Oceanography (CSIR-NIO) initiated a coccolithophore monitoring study in the eastern Arabian Sea (EAS). Here, we document for the first time a detailed spatial and seasonal distribution of coccolithophores and their controlling factors from the EAS, which is a well-known source of CO2 to the atmosphere. To infer the seasonality, data collected at three transects (Goa, Mangalore, and Kochi) during the Southwest Monsoon (SWM) of 2018 was compared with that of the late SWM of 2017. Apart from this, the abundance of coccolithophores was studied at the Candolim Time Series (CaTS) transect, off Goa during the Northeast Monsoon (NEM). The most abundant coccolithophore species found in the study region was Gephyrocapsa oceanica. A high abundance of G. oceanica (1800 × 103cells L−1) was observed at the Mangalore transect during the late SWM despite experiencing low pH and can be linked to nitrogen availability. The high abundance of G. oceanica at Mangalore was associated with high dimethylsulphide (DMS). Particulate inorganic carbon (PIC) and scattering coefficient retrieved from satellites also indicated a high abundance of coccolithophores off Mangalore during the late SWM of 2017. Interestingly, G. oceanica showed malformation during the late SWM in low pH waters. Malformation in coccolithophores could have a far-reaching impact on the settling fluxes of organic matter and also on the emissions of climatically important gases such as DMS and CO2, thus influencing atmospheric chemistry. The satellite data for PIC in the EAS indicates a high abundance of coccolithophore in recent years, especially during the warm El Nino years (2015 and 2018). This warrants the need for a better assessment of the fate of coccolithophores in high-CO2 and warmer oceans. [ABSTRACT FROM AUTHOR]

In March 2022, the Summary of Product Characteristics for the Lyrica brand of pregabalin was updated with warnings regarding malformation risks. This literature review and critical appraisal aims to explore whether these Summary of Product Characteristics updates are justified and provide clarity on the risk–benefit balance for pregabalin use in early pregnancy. A literature review was conducted in May 2022 to identify English language comparative studies of any design providing data about first trimester maternal pregabalin use and malformation risk. Five observational comparative cohort studies using data from 9 distinct datasets were located. Collectively these studies described at least 5300 unique pregabalin exposed pregnancies, with 4900 exposed in at least the first trimester. Three studies investigated overall major malformation risks, and 4 investigated specific malformation risks. The available evidence was found to be conflicting and generally of low quality, probably influenced by bias and data confounding, with no clear pattern of specific malformations observed. Findings from the largest study suggested absolute risks of major malformation of 4.8–5.6%, relative to a background risk of approximately 4%. Due to study methodology limitations, the available data were judged to only provide low quality evidence suggestive of a possible and unconfirmed small increased risk that cannot be solely attributed to foetal pregabalin exposure. This literature review and critical appraisal indicates that the Lyrica product literature updates are insufficiently substantiated and could result in confusion and misinformed clinical risk–benefit decision making. [ABSTRACT FROM AUTHOR]

The synthesis of nanoparticles and the usage areas of these nanoparticles show a rapid increase. In addition to the beneficial use of nanoparticles, their toxic effects cannot be ignored. In our study, iron oxide nanoparticle (Fe@AV NPs) (mean size: 20.852 nm) was synthesized from Aloe vera plant and the developmental toxicity of zebrafish was investigated. Zebrafish embryo-larvae were treated with different concentrations of Fe@AV NPs (1, 10, and 50 mg/L) starting at 4 hours after fertilization and continuing until 96 hours, and different developmental parameters (such as survival rate, hatchability rates, malformations, and behavior) were examined. In our study, it was determined that Fe@AV NPs caused developmental toxicity in zebrafish embryos depending on the dose increase. More than 60% died at 96 hours, especially in the highest (50 mg/L) application group. It was observed that Fe@AV NPs decreased and delayed the success of exiting the chorion depending on the dose increase, and caused various morphological abnormalities (like pericardial edema, tail deformation, and scoliosis) in all application groups except the lowest application group (1 mg/L). While 10 mg/L Fe@AV NPs caused sleep-like behaviors during the daytime by decreasing the daytime motility of the larvae, it caused hyperactivity by increasing their nocturnal motility. The results of thigmotaxis, which is an anxiety parameter, were found to increase anxiety at 10 mg/L Fe@AV NPs exposure. Our findings showed that Fe@AV NPs synthesized from Aloe vera plant have in vivo toxicity and their use at concentrations lower than 1 mg/L can be safe in environmental and medical applications. [ABSTRACT FROM AUTHOR]

Congenital arteriovenous fistulas involving the abdominal aorta are very rare. We report an unusual presentation involving the umbilical vein and characterized by the occurrence of a postnatal thrombosis and a favorable outcome. Synopsis: Fetal abdominal arteriovenous fistulas are rare involve branches from the aorta and can lead to umbilical vein thrombosis. [ABSTRACT FROM AUTHOR]

RNA interference is an efficient approach for gene function identification and a potential novel strategy for selectively controlling pests. The red flour beetle, Tribolium castaneum (Coleoptera: Tenebrionidae), is a major global storage pest, which causes great economic loss. Juvenile hormone esterase (JHE), a carboxylesterase, is responsible for the degradation of juvenile hormone. However, the knockdown effect of jhe on metamorphosis of pupae or adult in T. castaneum is unknown. In this study, we analyzed the expression profiles of Tcjhe in the larval stage, we found that Tcjhe was expressed throughout the whole larval instars and the expression levels were relatively high right after molting. Furthermore, we knocked down the expression of Tcjhe by injecting dsTcjhe, which significantly increased the mortality of adults and decreased the eclosion rate. In addition, abnormal developmental phenotypes, including wing deformitity, pupal–adult monsters and shrunken adults, were observed. Our finding indicates that JHE plays an important role in the metamorphosis and development in T. castaneum, suggesting that Tcjhe could be used as a potential target for the development of RNAi‐based control strategies in T. castaneum. [ABSTRACT FROM AUTHOR]

Over the last 50 years there has been a significant increase in our understanding of the issues faced by women with epilepsy, in both planning and undertaking pregnancy. The risks of teratogenicity associated with antiseizure medications have emerged slowly. The major pregnancy registers have substantially contributed to our knowledge about teratogenic risk associated with the commonly used antiseizure medications. However, there are substantial gaps in our knowledge about the potential risks associated with many third-generation drugs. The remit of the pregnancy registers and the wider research focus has moved beyond anatomical major congenital malformations. Increasingly neurodevelopmental and behavioral abnormalities have been investigated after in utero exposure to antiseizure medications. Public health approaches can help reduce the risk of teratogenicity. However, neurologists still have a vital role in reducing the risk of teratogenicity at an individual level for women attending their clinic. They also have responsibility to ensure that women with epilepsy are aware of the rationale for the different available options. [ABSTRACT FROM AUTHOR]

Introduction: As part of surgical interventions in pediatric patients, children with craniofacial malformations and syndromes are presented in the field of oral and maxillofacial surgery, anesthesia and also in all other clinical disciplines. In particular, the Pierre Robin sequence in the clinical context leads to a situation albeit a rare one, which should be given high attention in preoperative, intraoperative and postoperative care. Material and methods: In a retrospective analysis from 1993 to 2020 in the Department of Oral and Maxillofacial Surgery at the University Hospital Halle (Saale), a total of 54 patients were identified with syndromic changes and a need for surgical treatment. During this period, 12 patients with a Pierre Robin sequence were genetically confirmed, who received a total of 20 surgical interventions under general anesthesia at different times. Statistical analysis was performed using SPSS 17.0. Results: In 12 patients with a Pierre Robin sequence, 20 surgical procedures were performed with the patient under general anesthesia. The youngest patients had an average age of 6 months, the oldest 16 years at the time of the operation. The average age was 5.7 years. In addition to the genetic component, all children were assigned to the ASA I classification. The surgical indication was initially an isolated cleft palate in all patients, followed by further interventions such as dental restorations, corrective surgery in the area of the palate or ear nose throat (ENT) examinations. Drug induction of general anesthesia was weight-adapted using propofol 1%, fentanyl or remifentanil and rocuronium. In our study, out of 18 orotracheal intubations, only 2 patients had to be intubated by video laryngoscopy. One patient required nasal intubation and another was fitted with a laryngeal mask. The success rate of conventional intubation was 89.5%. Postoperatively, one infant had recurrent drops in saturation, so that reintubation was necessary. [ABSTRACT FROM AUTHOR]

Developmental abnormalities of the cerebellum are among the most recognized structural brain malformations in human prenatal imaging. Yet reliable information regarding their cause in humans is sparse, and few outcome studies are available to inform prognosis. We know very little about human cerebellar development, in stark contrast to the wealth of knowledge from decades of research on cerebellar developmental biology of model organisms, especially mice. Recent studies show that multiple aspects of human cerebellar development significantly differ from mice and even rhesus macaques, a nonhuman primate. These discoveries challenge many current mouse-centric models of normal human cerebellar development and models regarding the pathogenesis of several neurodevelopmental phenotypes affecting the cerebellum, including Dandy-Walker malformation and medulloblastoma. Since we cannot model what we do not know, additional normative and pathological human developmental data are essential, and new models are needed. [ABSTRACT FROM AUTHOR]

Orofacial clefts are congenital defects resulting from a lack of fusion between facial buds; they are the most common congenital malformations of the cephalic region and involve a variety of abnormalities in the upper lip and upper jaw, sometimes in the nose and hearing aid, involving a lack of uni- or bilateral substance in the affected area. Labio-maxillopalatine clefts appear in different forms and complexities; in 10-30% of cases only the division of the lip occurs, in about 25% only the division of the palate occurs and 40-50% of cases have complete division, labio-maxillo-palatine uni- or bilateral. The diagnosis can be established from the antenatal period, from the first 13-16 weeks of gestation, with the help of ultrasound of the pregnant uterus or fetal MRI. However, most cracks are diagnosed, unfortunately, at birth; over time, these children may frequently develop repeated respiratory infections, adenoiditis, medium otitis, even hearing loss, will present phonation disorders, requiring speech therapy, and dental abnormalities which require prosthesis, dental treatments and oro-maxillo-facial surgery. The modern treatment of labio-maxillo-palatal divisions is complex and must be performed in specialized centers; it must start from birth and can last until adolescence or adulthood, involving the presence of a whole team of specialists, who will contribute to the treatment of various pathological aspects. Orthodontic treatment, if necessary, should be started at the age of 3 months old and speech therapy at the age of 9 months old. All medical and surgical interventions aim to restore an aesthetic and morphological aspect as close as possible to the normal one, as well as to ensure the normal psychosomatic and emotional development. This paper is based on the experiences of specialists working in different sections of the “Grigore Alexandrescu” Emergency Clinical Hospital for Children Bucharest, on our current work protocols, and we have tried to illustrate how they represent current best practices. Concluding, the multidisciplinary treatment should be considered in cleft lip and palate children in order to be able to fully ensure speech and hearing, continuation of occlusion and maxillofacial growth in the normal course and the improvement of physical appearance and psychological state. A rational, multidisciplinary approach makes it possible to obtain optimal results in these patients. [ABSTRACT FROM AUTHOR]

Cabergoline is routinely prescribed in the management of prolactin excreting adenomas and is associated with low risk of congenital malformations and teratogenicity. Here, we reported the case of a bilateral simple syndactyly in a toddler with maternal exposure to cabergoline during the pregnancy. This association has not been previously described before. [ABSTRACT FROM AUTHOR]

Although malformations are found in both extant organisms and the fossil record, they are more rarely reported in the fossil record than in living organisms, and the environmental factors causing the malformations are much more difficult to identify for the fossil record. Two athyrid brachiopod taxa from the Upper Devonian Hongguleleng Formation in western Junggar (Xinjiang, NW China) show distinctive shell malformation. Of 198 Cleiothyridina and 405 Crinisarina specimens, 18 and 39 individuals were malformed, respectively; an abnormality ratio of nearly 10%. Considering the preservation status and buried environment of the abnormal specimens, and analysis of trace elements and rare earth elements from whole-rock and brachiopod shells, we conclude that the appearance of malformed athyrids is likely related to epi/endoparasites, or less likely the slightly higher content of heavy metal in the sea. [ABSTRACT FROM AUTHOR]

Malformations of cortical development (MCDs) are structural anomalies that disrupt the normal process of cortical development. These include microcephaly with simplified gyral pattern/microlissencephaly, hemimegalencephaly, focal cortical dysplasia, lissencephaly, heterotopia, polymicrogyria, and schizencephaly. They can present with intractable epilepsy, developmental delay, neurologic deficits, or cognitive impairment. Though the definitive diagnosis of MCD depends on histopathology, the pathologic tissue is rarely available; hence diagnosis begins with neuroimaging. This article shall briefly review the embryology, followed by specific magnetic resonance imaging features of MCD in an attempt to simplify the process of diagnosing these disorders with clinical and genetic correlation. A table has been included to highlight the embryologic, clinical, and genetic findings associated with various MCDs. [ABSTRACT FROM AUTHOR]

The purpose of this study was to analyse the normal vertebral development and the status of malformations for Platichthys stellatus fed in artificial conditions. Eggs were taken from cultured parental P. stellatus, being incubated until larvae, juvenile in an artificial recirculating system. Specimens that were randomly collected from hatching to 75‐day‐old were dyed with alcian blue and alizarin red. Vertebral development as cartilage was initiated at 6‐day‐old by the emergence of the anterior haemal arches and spines in the haemal region, followed by the neural arches and spines. The vertebral centra were visible at 10‐day‐old. The initial ossification events happened on the exterior border surrounding the vertebral centra where the haemal and neural arches connected to the vertebral centra in the front of the haemal region at 14‐day‐old. The parapophysis firstly formed in the most posterior prehaemal region at 16‐day‐old. All parts of vertebral column were ossified at 30‐day‐old, except for the haemal and neural spines from preural vertebrae until the end of the experiment. The total vertebral numbers were no significant differences from Stage 3 to Stage 5. The observed skeletal malformations were classified into 22 types. Among all specimens analysed, 62.9% of the ones presented malformation in the skeleton. From these, 27.3% of the specimens showed only one malformation, and 35.5% revealed multiple malformations. The frequencies of malformations were increasing from Stage 2 to Stage 5 with the highest value of 66%. [ABSTRACT FROM AUTHOR]

Congenital lung lesions are numerous but rare in individual clinical practice. They do require close multidisciplinary collaboration between health care professionals. This educational review will focus on the pathophysiology, clinical manifestations, surgical approaches, and anesthetic management of congenital anomalies of the large intrathoracic airways: congenital tracheal stenosis, tracheal agenesis, tracheal diverticulum, bronchial anomalies (tracheal, esophageal, or bridging bronchus), congenital lung malformations, lung sequestrations and Scimitar syndrome, lobar emphysema, Williams–Campbell syndrome, and pleuropulmonary blastoma. In addition, this review will illustrate common pitfalls and challenges related to the anesthesia management with emphasis on ventilation and correct endotracheal tube positioning. [ABSTRACT FROM AUTHOR]

Purpose: Nasal glioneuronal heterotopia (NGH) is an uncommon developmental abnormality of the nasal cavity or paranasal soft tissue. Few detailed histologic studies of NGH exist, and molecular analyses have not been performed to date. Methods: We describe six cases of pediatric NGH and two representative encephaloceles encountered in our practice over the past 20 years. Results: Two clinically distinct patient groups were noted, those with 1) intranasal nasal cavity mass (n = 3), or 2) extranasal cutaneous mass on the nose (n = 3, 1 on nasal apex, 2 on nasal bridge). Intranasal cases presented within the first week of life, whereas the extranasal NGH presented at ages of 4, 7, and 8 months. Resection was curative in 5/6 cases, with a single case showing local recurrence. Histologic examination showed a predominantly glial cell composition, with nests of GFAP-immunoreactive neuropil containing large, often multinucleated astrocytes. Neurons, although difficult to identify on H&E-stains, were readily observed in all cases by NeuN-immunostain. At least focal leptomeninges were noted in 2/3 intranasal and 1/3 extranasal NGHs on routine histology, SSTR2A immunohistochemistry further confirmed leptomeninges/ arachnoid cells in 4/6 cases. 1 of 4 NGH (extranasal) cases showed copy number variations in chromosome 16, 17 and 19, which were also present in 1/2 encephalocele cases. The full significance of these alterations remains unknown. Conclusion: We find evidence of histologic overlap between NGH and encephalocele, and, for the first time, report molecular alterations shared between the two entities, suggesting that these conditions may represent spectrum of the same histopathologic entity. [ABSTRACT FROM AUTHOR]

Purpose: Cochlear implantation became a valid hearing rehabilitation option in common cavity deformity. This study aimed to assess the audiological and speech outcomes of cochlear implantation in common cavity deformity patients and to address the surgical aspect used in this population. Methods: A comprehensive systematic literature review based on preferred reporting items for systematic reviews and meta-analyses (PRISMA) guideline from database inception through April 2020. Eighteen published articles including 138 patients with common cavity deformity met the inclusion criteria. These articles studied the surgical techniques and the audiological outcomes of cochlear implantation in patients with common cavity deformity in English language. Results: Trans-mastoid labyrinthotomy was the common surgical approach in these patients. The average speech intelligibility rating and categories of auditory performance scores in common cavity deformity were lower than in normal cochlea subjects (p < 0.05), and non-significant (p > 0.05) compared with other types of inner ear malformations. Conclusion: Patients with common cavity deformity who underwent cochlear implantation showed a beneficial audiological and speech outcome. However, their performance is highly variable. Therefore, pre-operative counseling of the parents is necessary. The surgical approaches should be individualized according to clinical, radiological, and surgical findings. [ABSTRACT FROM AUTHOR]

Conjoined twins are a rare form of monozygotic and monoamniotic twins. Fetal prognosis is very poor and, if the diagnosis is made early, it most often requires therapeutic abortion. We here report a case of three-hour old thoracopagus conjoined twins who were born vaginally, at term, at 40 weeks + 3 days. They were born to non-consanguineous parents, without any significant pathological history. Their mother was young and primiparous. She received 5 antenatal visits and 3 obstetric ultrasounds were performed by an inexperienced physician. The diagnosis of thoracopages twins was suspected based on clinical examination and computerized tomography (CT) results. This test showed cardiovascular abnormalities incompatible with life. The twins died after 23 hours of age due to acute respiratory distress. Conjoined twins are a rare congenital abnormality. Early diagnosis based on ultrasound would help to determine common anatomical structures, investigate associated congenital abnormalities, schedule delivery in a suitable structure and multidisciplinary neonatal management. [ABSTRACT FROM AUTHOR]

Lung agenesis is a congenital anomaly usually incidentally found following respiratory tract infections. A six months old infant, second twin, is admitted for respiratory distress with hypoxia and asymmetric lung auscultation. The thoracic CT angiography shows a right pulmonary agenesis. She has recovered during the admission despite a persistent stridor whose flexible nasopharyngoscopy was normal. A long-term inhaled corticosteroid therapy was established during the follow up. Pulmonary agenesis is a rare condition for which a pulmonary radiography has to be done at the slightest doubt. [ABSTRACT FROM AUTHOR]

Pathogenic variants in the MED12 gene located on the X‐chromosome have primarily been reported in males with Lujan‐Fryns syndrome, Ohdo syndrome and the Opits‐Kaveggia syndrome. However, earlier reports of female patients and female mice suggest that MED12 deficiency causes severe malformations. We report a novel example of a MED12 de novo nonsense variant in a female fetus with severe malformations identified by trio‐exome sequencing. This finding further expands the clinical spectrum of MED12‐related disorders, which is vital for prenatal diagnosis and genetic counselling of couples. [ABSTRACT FROM AUTHOR]

Mesentery is an uncommon location for occurrence of lymphatic malformations. Lymphatic malformations causing midgut volvulus are described in pediatric population; however, it is a rare presentation in adults. We present case of 20-year-old man with a large mesenteric lymphatic malformation who presented with acute abdominal complaints. On radiological work up, the lymphatic malformation was seen causing midgut volvulus and closed loop small bowel obstruction with the presence of classical whirlpool sign. The patient underwent emergency surgery and the lymphatic malformation was completely excised along with resection of a segment of small bowel loop [ABSTRACT FROM AUTHOR]

Cochlear implantation (CI) is a safe and beneficial surgery for children with congenital inner ear malformations, with the exception of cochlear nerve aplasia. The combination of microtia with middle and inner ear abnormalities is extremely uncommon and sufficiently severe to make a surgical approach to the cochlea difficult. We report herein the case of a 2-year-old girl who presented with profound bilateral sensorineural hearing loss, congenital aural atresia, microtia, and inner ear malformations. High-resolution computed tomography revealed poor development of the bilateral middle ear spaces, absence of the incus and stapes, aberrant courses of facial nerves, aplastic lateral semicircular canals, and covered round windows. With intraoperative imaging assistance, sequential bilateral CI was performed using a transmastoid approach with no complication. We propose that CI is feasible in patients with severe external and middle ear malformations. However, major malformations increase the risk of complications. As the facial nerve and cochlea are difficult to locate due to the lack of important anatomical landmarks, detailed planning and adequate preparation, including review of the preoperative imaging data, and the use of facial nerve monitoring and intraoperative imaging are very important. In addition, experienced surgeons should perform CI to ensure the success of the operation. [ABSTRACT FROM AUTHOR]

OBJECTIVE: To evaluate the relationship between the third window abnormalities and congenital inner ear malformations in pediatric patients with different types of hearing loss. If such a relationship should exist, it would be important to take it into account, in order to diagnose and treat pediatric hearing loss cases more accurately. METHODS: Two hundred twenty-one children with hearing loss who had temporal bone computed tomography (CT) examination and were identified from 2013 to 2018 were retrospectively evaluated. The types of hearing loss were grouped as sensorineural hearing loss (SNHL), conductive hearing loss (CHL), and mixed hearing loss (MHL). Third window abnormalities included superior semicircular canal (SC) dehiscence, posterior SC dehiscence, enlarged vestibular aqueduct (EVA), X-linked stapes gusher, perilymph fistula, and bone dyscrasias. Congenital inner ear malformations included cochleovestibular, SC, and internal acoustic canal malformations. The relationships were analyzed with chi-square and Fisher's exact tests. RESULTS: In the study, 40 patients had unilateral hearing loss and 181 had bilateral hearing loss. In 402 ears, the rates of SNHL, CHL, and MHL were 88.5%, 6.9%, and 4.4%, respectively. EVA was the most common third window abnormality (41/402; 9.7%), and SC malformations were the most common inner ear malformations (53/402; 13.2%). In the SNHL group, superior and posterior SC dehiscence were associated with cochleovestibular malformations (P = .035 and.020, respectively). In the CHL group, there was a relationship between EVA and SC malformations (P = .041). No relationships were found in the MHL group. CONCLUSION: Third window abnormalities and congenital inner ear malformations may be encountered simultaneously in children with SNHL and CHL. [ABSTRACT FROM AUTHOR]

Background & objectives: Congenital anomalies lead to significant morbidity and mortality. Systematically published data on the prevalence and spectrum of congenital anomalies from India are scarce. This study was aimed to ascertain the prevalence, spectrum, trend, and outcome of congenital anomalies at a tertiary care centre in north India over two decades. Methods: Electronic records of all live births from January 1998 to December 2017 were retrieved, and the neonates with congenital anomaly were included in this retrospective analysis. International Statistical Classification of Diseases and Related Health Problems, tenth revision (ICD-10) was used for uniformity and international comparison. The further sub-categorization was done as per the WHO birth defects surveillance manual. The prevalence of individual as well as overall congenital anomalies was calculated. Run charts were used to analyze the trends. Results: In the two decades studied (1998-2017), there were 86850 live births, of which 1578 [1.82%, 95% confidence interval (CI): 1.73-1.91%] neonates had a major congenital anomaly. The overall prevalence of anomalies was 182 (95% CI: 173-191) per 10,000 live births. Malformation of the circulatory system was the most common (28.0%) followed by musculoskeletal (18.6%) and urinary system (14.3%). Congenital anomaly-related death rate was 6.78 per 1000 live births. No significant trend was observed in the annual prevalence, individual malformations or contribution of congenital anomalies to overall mortality over the two decades. Interpretation & conclusions: Our results showed a high prevalence of congenital anomalies which could be responsible for significant mortality, warranting the need for a national surveillance programme and birth defect services. It is important to have a national database to know the overall burden and spectrum of congenital anomalies in the country. [ABSTRACT FROM AUTHOR]

A wide range of craniofacial malformations can be diagnosed in utero using ultrasonography. However, even with highly experienced sonographers and diagnostic physicians and optimal conditions of examination, some anatomical structures cannot be properly analyzed by this technique. The aim of this pictorial essay is to show the additional value of fetal magnetic resonance imaging and computed tomography in this setting and to illustrate the role of these modalities in facial clefts; craniosynostosis; ear, eye and nose abnormalities; otomandibular dysplasias; and facial cephaloceles. [ABSTRACT FROM AUTHOR]

Embryo-fetal exposure to maternal disorders during intrauterine life programs long-term consequences for the health and illness of offspring. In this study, we evaluated whether mild diabetic rats that were given high-fat/high-sugar (HF/HS) diet presented maternal and fetal changes at term pregnancy. Female rats received citrate buffer (non-diabetic-ND) or streptozotocin (diabetic-D) after birth. According to the oral glucose tolerance test (OGTT), the experimental groups (n = 11 animals/group) were composed of non-diabetic and diabetic receiving standard diet (S) or HF/HS diet. High-fat/high-sugar diet (30% kcal of lard) in chow and water containing 5% sucrose and given 1 month before mating and during pregnancy. During and at the end of pregnancy, obesity and diabetes features were determined. After laparotomy, blood samples, periovarian fat, and uterine content were collected. The diabetic rats presented a higher glycemia and percentage of embryonic losses when compared with the NDS group. Rats DHF/HS presented increased obesogenic index, caloric intake, and periovarian fat weight and reduced gravid uterus weight in relation to the other groups. Besides, this association might lead to the inflammatory process, confirmed by leukocytosis. Obese rats (NDHF/HS and DHF/HS) showed higher triglyceride levels and their offspring with lower fetal weight and ossification sites, indicating intrauterine growth restriction. This finding may contribute to vascular alterations related to long-term hypertensive disorders in adult offspring. The fetuses from diabetic dams showed higher percentages of skeletal abnormalities, and DHF/HS dams still had a higher rate of anomalous fetuses. Thus, maternal diabetes and/or obesity induces maternal metabolic disorders that contribute to affect fetal development and growth. [ABSTRACT FROM AUTHOR]

Fenvalerate (Fen) is an endocrine disruptor, capable of interfering with the activity of estrogen and androgen. Our objective was to explore the molecular mechanisms of Fen on sperm in vivo. Adult male Sprague–Dawley rats were orally exposed to 0, 0.00625, 0.125, 2.5, 30 mg/kg/day Fen for 8 weeks. Sperm morphology, differential proteomics of sperm and testes, bioinformatic analysis, western blotting (WB), and RT‐PCR were used to explore the mechanism of Fen on sperm. Data showed that low Fen doses significantly induced sperm malformations. In sperm proteomics, 47 differentially expressed (DE) proteins were enriched in biological processes (BPs) related to energy metabolism, response to estrogen, spermatogenesis; and enriched in cellular components (CCs) relating to energy‐metabolism, sperm fibrous sheath and their outer dense fibers. In testicular proteomics, 56 DE proteins were highly associated with mRNA splicing, energy metabolism; and enriched in CCs relating to vesicles, myelin sheath, microtubules, mitochondria. WB showed that the expression of selected proteins was identical to their tendency in 2D gels. Literature indicates that key DE proteins in proteomic profiles (such as Trap1, Hnrnpa2b1, Hnrnpk, Hspa8, and Gapdh) are involved in P53‐related processes or morphogenesis or spermatogenesis. Also, P53 mRNA and protein levels were significantly increased by Fen; bioinformatic re‐analysis showed that 88.5% DE proteins and P53 formed a complex interacting network, and the key DE proteins were coenriched with P53‐related BPs. Results indicate that key DE proteins of proteome underlying sperm malformations of rats exposed to low Fen doses are highly related to P53. [ABSTRACT FROM AUTHOR]

Pectus excavatum (PE) is one of the most common congenital deformities of the thorax and is characterized by a depressed sternum with reduction of the antero-posterior thoracic diameter. Although the majority of patients with PE have no physiologic limitations, it is often associated with psychological problems influencing the patients' quality of life. Surgical treatment options show particular variation with regard to invasiveness and morbidity of the respective procedures. Surgical treatment using a custom-made silicone implant represents a less invasive alternative for patients without further accompanying physical symptoms. This article describes the simultaneous correction of a PE combined with tubular breast deformity using this minimally invasive technique. [ABSTRACT FROM AUTHOR]

Neuropathologic hallmarks of Huntington Disease (HD) include the progressive neurodegeneration of the striatum and the presence of Huntingtin (HTT) aggregates that result from abnormal polyQ expansion of the HTT gene. Whether the pathogenic trinucleotide repeat expansion of the HTT gene causes neurodevelopmental abnormalities has garnered attention in both murine and human studies; however, documentation of discrete malformations in autopsy brains of HD individuals has yet to be described. We retrospectively searched the New York Brain Bank (discovery cohort) and an independent cohort (validation cohort) to determine whether developmental malformations are more frequently detected in HD versus non-HD brains and to document their neuropathologic features. One-hundred and thirty HD and 1600 non-HD whole brains were included in the discovery cohort and 720 HD and 1989 non-HD half brains were assessed in the validation cohort. Cases with developmental malformations were found at 6.4–8.2 times greater frequency in HD than in non-HD brains (discovery cohort: OR 8.68, 95% CI 3.48–21.63, P=4.8 × 10-5; validation cohort: OR 6.50, 95% CI 1.83–23.17, P=0.0050). Periventricular nodular heterotopias (PNH) were the most frequent malformations and contained HTT and p62 aggregates analogous to the cortex, whereas cortical malformations with immature neuronal populations did not harbor such inclusions. HD individuals with malformations had heterozygous HTT CAG expansions between 40 and 52 repeats, were more frequently women, and all were asymmetric and focal, aside from one midline hypothalamic hamartoma. Using two independent brain bank cohorts, this large neuropathologic series demonstrates an increased occurrence of developmental malformations in HD brains. Since pathogenic HTT gene expansion is associated with genomic instability, one possible explanation is that neuronal precursors are more susceptible to somatic mutation of genes involved in cortical migration. Our findings further support emerging evidence that pathogenic trinucleotide repeat expansions of the HTT gene may impact neurodevelopment. [ABSTRACT FROM AUTHOR]

The western Vidarbha region experiences vast changes in climate particularly during flowering and fruiting of mango and causes high yield losses due to powdery mildew and malformation incidence caused by extreme weather conditions during the current years. Hence, the present study was conducted to study the influence of weather parameters on powdery mildew and malformation incidence in different mango cultivars and to find out the superior cultivar against powdery mildew and malformation incidence under western Vidarbha condition of Maharashtra. In this regard, a field experiment was conducted during mango seasons of 2016-17, 2017-18 and 2018-19 at Faculty of Horticulture, Dr. Panjabrao Deshmukh Krishi Vidyapeeth, Akola, Maharashtra. The experiment was laid out in randomised block design with five replications. The cultivars were considered as a factor and each tree under study as a replication. The results revealed that lower powdery mildew incidence was observed in cv. Dashehari (31.92%). However, the higher powdery mildew incidence was noted in cv. Vanraj (47.89%), Similarly, the lower malformation incidence was recorded in cv. Dashehari (1.62%) which was at par with cvs. Mallika, Neelum and Amrapali while it was severe in cv. Pairi (4.79%). All the studied cultivars showed varying response in relation to the powdery mildew and malformation incidence. It can be concluded that in mango cv. Dashehari followed by Mallika and Amrapali, the presence or absence of symptoms caused by the powdery mildew had no such effect on the fruit yield. [ABSTRACT FROM AUTHOR]

Background: To establish the normal reference range of fetal thorax by two-dimensional (2D) and three-dimensional (3D) ultrasound VOCAL technique and evaluate the application in diagnosing fetal thoracic malformations. Methods: A prospective cross-sectional study was undertaken involving 1077 women who have a normal singleton pregnancy at 13–40 weeks gestational age (GA). 2D ultrasound and 3D ultrasound VOCAL technique were utilized to assess fetal thoracic transverse diameter, thoracic anteroposterior diameter, thoracic circumference, thoracic area, lung volume, thoracic volume and lung-to-thoracic volume ratio. The nomograms of 2D and 3D fetal thoracic measurements were created to GA. 50 cases were randomly selected to calculate intra- and inter-observer reliability and agreement. In addition, the case groups including congenital skeletal dysplasia (SD) (15), congenital diaphragmatic hernia (CDH) (30), pulmonary sequestration (PS) (25) and congenital cystic adenomatoid malformation (CCAM) (36) were assessed by the nomograms and followed up subsequently. Results: Both 2D and 3D fetal thoracic parameters increased with GA using a quadratic regression equation. The intra- and inter-observer reliability and agreement of each thoracic parameter were excellent. 2D fetal thoracic parameters could initially evaluate the fetal thoracic development and diagnose the skeletal thoracic deformity, and lung volume, thoracic volume and lung-to-thorax volume ratio were practical to diagnose and differentiate CDH, PS and CCAM. Conclusion: We have established the normal fetal thoracic reference range at 13–40 weeks, which has a high value in diagnosing congenital thoracic malformations. [ABSTRACT FROM AUTHOR]

We present accounts of vertebral anomalies in 17 individuals representing 13 species of anuran amphibians. These cases were detected while perusing a larger survey on the skeleton of frogs, for which µCT scans of a broad range of species were collected and evaluated. Our data and reports from the literature suggest that malformations, asymmetries, and irregularities, if present, appear to be particularly prevalent in the posterior region of the axial skeleton in frogs. Anomalies at the trunk-tail boundary, i.e., at the sacrum and neighbouring segments, were relatively common. Malformations at the trunk-tail boundary often include sacralization of pre- and postsacral elements with asymmetrically or symmetrically developed diapophyses, fusion with the posteriormost presacral vertebra, occurrence of postsacral vertebrae, unusual transverse processes at the proximal end of the urostyle, formation of additional zygapophyses, or fusion of elements that normally articulate. Vertebral fusion in the anterior vertebral column (Presacral Vertebrae I+II) has been reported both in evolutionary context and in cases of individual developmental anomalies. Malformations in the middle section of the vertebral column, such as the case of Epidalea calamita reported herein, are rare. [ABSTRACT FROM AUTHOR]

A stigmaeid species, Ledermuelleriopsis punicae Khanjani, Mohammadi, Ghiasi, Izadi and Mirmoayedi (Acariformes: Stigmaeidae), originally found in Iran, is newly recorded from Turkey and re-described. The specimens of L. aminiae Nazari and Khanjani and L. aydinensis Akyol and Gül are re-examined, and L. aydinensis Akyol & Gül syn. nov. is proposed as a junior synonym of L. aminiae Nazari & Khanjani. L. aminiae is recorded from new localities, and in its deutonymph a malformation has been observed. [ABSTRACT FROM AUTHOR]

The unfolded protein response (UPR) is one of a switch of autophagy and apoptosis, and the endoplasmic reticulum stress (ERS) which inducing UPR plays a role in the malformations caused by some genetic and environmental factors. Exposure to flutamide during pregnancy will also cause abnormalities in some male offspring reproductive organs such as cryptorchidism. In this study, after administered the pregnant mouse orally at a dose of 300 mg/kg body weight every day during gestational day (GD)12 to GD18, flutamide can not only caused hypospadias in the male mouse offspring but also damaged the morphology and function of their testis. And the expression of UPR-related genes and proteins, autophagy, apoptosis, and angiogenesis-related genes of the damaged/teratogenic testis and penis in the mice were investigated to determine the role of UPR in this model. It was found that flutamide activated maybe the Atg7-Atg3-Lc3 pathway through the UPR pathway, caused cells excessive autophagy and apoptosis, and inhibited the formation of penile and testicular blood vessels by activating UPR and affecting the messenger RNA level of vascular endothelial growth factor and hypoxia-inducible factor 1. [ABSTRACT FROM AUTHOR]

Fetal MRI is the modality of choice to study supratentorial brain malformations. To accurately interpret the MRI, the radiologist needs to understand the normal sequence of events that occurs during prenatal brain development; this includes familiarity with the processes of hemispheric cleavage, formation of interhemispheric commissures, neuro-glial proliferation and migration, and cortical folding. Disruption of these processes results in malformations observed on fetal MRI including holoprosencephaly, callosal agenesis, heterotopic gray matter, lissencephaly and other malformations of cortical development (focal cortical dysplasia, polymicrogyria). The radiologist should also be familiar with findings that have high association with specific conditions affecting the central nervous system or other organ systems. This review summarizes and illustrates common patterns of supratentorial brain malformations and emphasizes aspects that are important to patient care. [ABSTRACT FROM AUTHOR]

Imaging plays a leading role in detection and diagnosis of fetal head and neck lesions. These lesions comprise a heterogeneous group of congenital tumors and malformations. Complementary imaging modalities that can be used in prenatal medicine are ultrasound and MRI. The authors discuss imaging characteristics of fetal lesions, assessment of potential complications and pregnancy management options for the most common pathology of the fetal head and neck. [ABSTRACT FROM AUTHOR]