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OBJECTIVE The aim: To compare the effectiveness and sensitivity of prenatal and postnatal diagnostics in the diagnosis of congenital malformations of the urinary system in the Slovak Republic. PATIENTS AND METHODS Materials and methods: Data of postnatal sonographic screening of congenital developmental malformations of the urinary system in Slovak Republic including 2017 were identified and updated using a questionnaire survey, 38,496 newborns were involved. Statistical data on the proportion of prenatal diagnosis for the years 1995, 2000, 2005, 2008 and 2013-2016 were provided from the National Register of Congenital Defects. The chi2-test and t-test were applied to assess the sensitivity differences. RESULTS Results: The study showed a low sensitivity of prenatal diagnosis with its maximum in 2016, reaching 32.3% and a minimum in 2005-2008 (8.0 - 8.4%). The sensitivity of postnatal diagnostics for selected years has always been a stable indicator and reaches 99.6%. CONCLUSION Conclusions: Available statistical data confirm that prenatal diagnostics of congenital developmental malformations of the urinary system in the Slovak Republic is not perfect. Our work underlines the importance, or we should rather say inevitability of postnatal ultrasound screening for congenital developmental anomalies in the kidneys.

Current levels of Ultraviolet Radiation (UVR) represent a significant threat to many fish species. The first studies on the effects of UVR on organisms were performed on fish at the beginning of the twentieth century, and the topic has been progressing continuously until the present. Here, we review the reported harmful effects of ultraviolet B (UVB) and A (UVA) radiations in fish at different lifecycle stages, including embryo, larvae, juveniles and adults. The most evident negative effects during the early development stages are an increase in mortality and incidence in developmental malformations, with the skin and gills the most affected tissues in larvae. Growth reduction, a loss in body condition, and behavioral, physiological and metabolic changes in juveniles/adults occur under short- or long-term UVB exposure. The skin in juveniles/adults undergoes profound morphological and functional changes, even after acute exposure to UVR. Impairment of molecular and cellular processes was evidenced in all development stages by increasing the levels of DNA damage, apoptosis and changing tissues’ antioxidant status. The different photo-protective mechanisms to cope with excessive UVR exposure are also revised. Currently, stratospheric ozone dynamics and climate change interact strongly, enhancing the potential exposure of fish to UVR under water. Due to these environmental changes, fish are exposed to new and complex interactions between UVR and environmental stressors, which potentially affects fish growth and survival. Understanding the ability of fish to cope and adapt to these environmental changes will be essential to evaluate the potential impact in fisheries and mitigate ecological problems.

SynopsisEvery stage of organismal life history is being challenged by global warming. Many species are already experiencing temperatures approaching their physiological limits; this is particularly true for ectothermic species, such as lizards. Embryos are markedly sensitive to thermal insult. Here, we demonstrate that temperatures currently experienced in natural nesting areas can modify gene expression levels and induce neural and craniofacial malformations in embryos of the lizard Anolis sagrei. Developmental abnormalities ranged from minor changes in facial structure to significant disruption of anterior face and forebrain. The first several days of postoviposition development are particularly sensitive to this thermal insult. These results raise new concern over the viability of ectothermic species under contemporary climate change. Herein, we propose and test a novel developmental hypothesis that describes the cellular and developmental origins of those malformations: cell death in the developing forebrain and abnormal facial induction due to disrupted Hedgehog signaling. Based on similarities in the embryonic response to thermal stress among distantly related species, we propose that this developmental hypothesis represents a common embryonic response to thermal insult among amniote embryos. Our results emphasize the importance of adopting a broad, multidisciplinary approach that includes both lab and field perspectives when trying to understand the future impacts of anthropogenic change on animal development.

The planar cell polarity (PCP) signaling pathway, principally understood from work in Drosophila, is now known to contribute to development in a broad swath of the animal kingdom, and its impairment leads to developmental malformations and diseases affecting humans. The ‘core’ mechanism underlying PCP signaling polarizes sheets of cells, aligning them in a head-to-tail fashion within the sheet. Cells use the resulting directional information to guide a wide variety of processes. One such process is lateralization, the determination of left–right asymmetry that guides the asymmetric morphology and placement of internal organs. Recent evidence extends the idea that PCP signaling underlies the earliest steps in lateralization and that PCP is invoked again during asymmetric morphogenesis of organs including the heart and gut.

Polymethylmethacrylate (PMMA) production has increased almost 20% over the last years. With its release into the aquatic environment, its breakdown or degradation to nano dimensions (nanoplastics-NPLs) due to biological and physical/mechanical action is, theoretically, anticipated. The occurrence of PMMA-NPLs in aquatic ecosystems may thus cause adverse effects particularly to early life stages of amphibians, which may be in contact with PMMA-NPLs suspended in the water column or deposited in upper layers of the sediments. Accordingly, this work aimed at assessing the effects of PMMA-NPLs to aquatic early life stages of the model anuran species Xenopus laevis. To attain this objective, two types of toxicity assays were carried out by exposing embryos [Nieuwkoop and Faber (NF) stage 8-11] or tadpoles (NF 45) to three concentrations of PMMA-NPLs (1, 100 and 1000 μg/L): i) 96-h embryo teratogenicity assay, where survival, malformation, and total body length (BL) of embryos were assessed; and ii) 48-h feeding rate assay, where survival, feeding (FR), malformations and growth rates (body weight-BW and BL) of tadpoles were evaluated. PMMA-NPLs exposure had no significant effects on mortality, malformations of X. laevis embryos but BL was lower at 1000 μg PMMA-NPLs/L. In tadpoles, no effects on survival or FR were observed after exposure to PMMA-NPLs, but significant changes occured in BW and BL. Moreover, anatomical changes in the abdominal region (externalization of the gut) were observed in 62.5% of the tadpoles exposed to 1000 μg PMMA-NPLs/L. Despite the lack of knowledge regarding the environmental levels of NPLs, it is expected that sediments constitute a sink for these contaminants, where they can become available for organisms that, like tadpoles, feed on the organic matter at the surface of sediments. Considering the continuous release and subsequent accumulation of PMMA, the malformations obtained in the feeding assays suggest that, in the future, these nano-polymers may constitute a risk for aquatic life stages of amphibians.

Vascular anomalies arise as a consequence of improper development and maintenance of the vasculature. Our knowledge on the pathophysiological bases of vascular anomalies has skyrocketed during the past 5 years. It is becoming clear that common intracellular signaling pathways are often activated by mutations, causing endothelial cell dysfunction. These mutations cause hyperactivation of two major intracellular signaling pathways that may be controlled by inhibitors developed for cancer treatment. Although we do not know yet all the downstream effects, it has become evident that normalization of the abnormal signaling is an interesting target for therapy. This is a major paradigm change, as developmental malformations were considered to be inert to any molecular treatment.

Heterotaxia syndromes are rare birth defects which can result in developmental malformations. A 64-year-old woman presented to the hospital for preoperative screening for kidney donation; during which she was found to have no gallbladder and no spleen, without any signs of surgical removal. This could be a new description of a heterotaxia syndrome.

Due to the active development and application of nanotechnology, nanoparticles have emerged as a new class of environmental pollutants. The aim of the study was to investigate quantum dots (QDs) access routes and distribution in embryos and larvae of rainbow trout Oncorhynchus mykiss and to determine the toxicity of QDs to rainbow trout larvae depending on the duration of exposure. CdSe/ZnS-COOH QDs at sublethal concentration was used during the toxicity test (1, 4 and 14 days). The results showed that QDs could get from the solutions into the larvae after hatching. QDs induced a significant increase in mortality, gill ventilation frequency and behavioral responses and a decrease in relative body mass in larvae at the end of the test. Larvae exposed to QDs were found to possess developmental malformations (blood clots). It was found that biological responses of larvae significantly depended on the duration of exposure to QDs.

Central odontogenic fibroma (COF) has been described as a rare, slow-growing tumor of the jaw with odontogenic ectomesenchymal origin. Odontomas are hamartomatous developmental malformations. The occurrence of complex odontomas is rare. These two separate odontogenic tumors have not been reported previously as occurring simultaneously. Here, we present an unusual case of coincidental co-occurrence of COF (WHO type) and two complex odontomas in a 10-year-old boy.

Epilepsia partialis continua (EPC) is a form of focal status epilepticus often refractory to anticonvulsant therapy. A wide range of abnormalities such as inflammatory, vascular, metabolic-toxic, developmental malformations, and neoplasia cause EPC. Linear nevus syndrome with hemimegalencephaly is one of the developmental malformations that can present with EPC.

Meckel–Gruber syndrome (MGS) is a rare and lethal ciliopathic disorder, with the incidence ranging between 1 in 13 000–400 000 live births. MGS is characterized by multisystem developmental malformations with the classical features of renal cystic dysplasia, occipital encephalocele and post-axial polydactyly. Except for occipital encephalocele, the CNS abnormalities associated with MGS that are less frequently reported include hydrocephaly, anencephaly or malformation of cerebellum. Our presented case of MGS is associated with anencephaly and other facial abnormalities. This kind of ailment is infrequently reported in literature.

The process of diagnosis for a fetal alcohol spectrum disorder (FASD) and the terminology used within the spectrum may be confusing to those not close to the subject. First the term, FASD, itself has not been used as an actual diagnostic term but rather as a blanket term for a number of more specific conditions caused by alcohol exposure in pregnancy. Second, the reasons or purposes for pursuing this diagnosis vary. The diagnosis might be sought to establish that alcohol was the teratogenic (an agent that can disturb the development of the embryo or fetus causing developmental malformations) cause of the problem. More often, however, the diagnosis is sought to determine if the patient has an elusive form of brain damage that has lead to his/her behavioural and adaptive problems. If that is so, it makes the diagnosis important for intervention and perhaps to understanding a defendant’s criminal intentions in a court. The diagnosis can be made for either reason, but does not necessarily need to be made for both. In some cases proving, as best as possible, that alcohol was the principal cause of the individual’s problems is the issue, but at other times identifying that brain damage has contributed to behavioural problems, no matter the cause or causes, is the true point of the exercise. This brief chapter is presented in the hope that it can help legal and other non-medical professionals to understand the tasks involved in reaching a diagnosis of FASD.

Congenital lung anomalies represent a diverse group of developmental malformations of the lung parenchyma, arterial supply, and venous drainage, which may present anywhere from the prenatal period through adulthood. It is imperative for radiologists to be aware of imaging techniques and imaging appearance of these anomalies across the pediatric age range. This review presents the spectrum of these lesions that are often encountered in daily clinical practice. Each anomaly is discussed in terms of underlying etiology, clinical presentation, and imaging characterization with emphasis on the most up-to-date research and treatment. Knowledge of these areas is essential for accurate, timely diagnosis, which aids in optimizing patient outcomes.

The maxilla is the cornerstone of the appearance and function of the midface and has important functions such as supporting the skull base, eyeballs, and midface, bearing the chewing force, and separating the oral and nasal cavities. The main causes of maxillary defects include acquired defects caused by tumor-reductive surgery and severe trauma and the congenital developmental malformations. The effect of the maxillary defect on the appearance and function of the patient counts for much, the maxillary defect is often accompanied by the destruction or deletion of surrounding vital structures, and therefore it will cause facial deformities and severe loss of oral functions, bring catastrophic blow to the patient’s physiology and psychology, and seriously affect the quality of life of patients.

Surgical management of the developmental malformations of newborns, infants, and children needs centralization not only from a professional point of view but because of financial reasons, too. During the past 2-3 decades, the reduction in the number of live births in Hungary and the increase in the changing of professional needs have witnessed the centralization of the more expensive, fragmented intensive/surgical care. In a relatively small country, like Hungary, centralization is essential.

Aversion to food is observed at children at different stages of their development since the neonatality period. This state can be caused by several reasons. First, by coexisting diseases among which there are pathology of a gastrointestinal path (gastroesophageal reflux disease, malabsorption syndrome), neurologic (damage at ischemia or hemorrhage of a brain axis and cervical cord, neuromuscular diseases) and logopedic pathology (ankyloglossia), metabolic diseases (organic aciduria) and food intolerance. Secondly, disorder of eating behaviour can be connected with organic pathology, for example with gullet and stomach developmental malformations (esophageal achalasi, short gullet, pyloristenosis), congenital pathology of cardiovascular system, respiratory organs, liver. Thirdly, aversion to food can take place against complete health without visible objective reasons and, as a rule, is interfaced to the wrong feeding. For this reason the determination of possible reasons of eating disorder is fundamental for the achievement of clinical effect. However, besides treatment of the main disease the complex behavioural and nutritional correction which is considered in this article is justified for all patients with aversion to food.

Summary Background Gray matter heterotopia (GMH) is a malformation of the central nervous system characterized by interruption of normal neuroblasts migration between the 7th and 16th week of fetal development. The aim of the study was the analysis of clinical symptoms, prevalence rate and the most common concurrent central nervous system (CNS) developmental disorders as well as assessment of characteristic morphological changes of gray matter heterotopia in children hospitalized in our institution between the year 2001 and 2012. Material/Methods We performed a retrospective analysis of patients’ data who were hospitalized in our institution between the year 2001 and 2012. We assessed clinical data and imaging exams in children diagnosed with gray matter heterotopia confirmed in MRI (magnetic resonance imaging). Results GMH occurred in 26 children hospitalized in our institution between the year 2001 and 2012. Among children with gray matter heterotopia most common clinical symptoms were: epilepsy, intellectual disability and hemiparesis. The commonest location of heterotopic gray matter were fronto-parietal areas of brain parenchyma, mostly subependymal region. Gray matter heterotopia occurred with other developmental disorders of the central nervous system rather than solely and in most cases it was bilateral. Schizencephaly and abnormalities of the corpus callosum were the most often developmental disorders accompanying GMH. Conclusions 1. Subependymal gray matter heterotopia was more common than subcortical GMH. Subependymal GMH showed tendency to localize in the region of the bodies of the lateral ventricles. The least common was laminar GMH. 2. Gray matter heterotopia occurred more often with other developmental disorders of the central nervous system rather than solely. The most frequent concurrent disorders of the central nervous system were: schizencephaly, developmental abnormalities of the corpus callosum, arachnoid cyst, abnormalities of the septum pellucidum and the fornix. 3. GMH foci were more often bilateral than unilateral. 4. In the diagnostics of cell migration abnormalities, gray matter heterotopia included, MR imaging remains the method of choice.

Lymphedema associated with other developmental malformations (Milroy syndrome, Hennekam syndrome, Noonan syndrome, Gorham-Stout syndrome, yellow nail syndrome) are unfrequent disease, but explorations led to the identification of genetic mutations that have then been validated in mouse models. However, lymphatic vessels complexity and its proximity with the venous system suggest the need for further researches, especially in the comprehension of pulmonary symptoms.

This article presents the results of teratological studies on the spider Tegenaria atrica. Temperatures alternating between 14°C and 32°C every 12 h were applied as a teratogenic factor in the early stage of embryogenesis. This treatment resulted in specimens with various developmental malformations, including symely of the walking legs. Symely, which is one of the anomalies that results from disturbances during the formation of metameres to the germ band, usually affects the third and fourth pair of walking legs. Fusion of legs from the same pair entails changes in the symmetry of the whole body, particularly in the structure of prosoma and its position in relation to the opisthosoma. These changes are the cause of the exceptionally high mortality among embryos.

Choledochal cysts are a rare developmental malformations of the biliary tree, comprising 1% of all benign biliary conditions. They present a particular challenge to the hepatopancreaticobiliary surgeon, as individual experience in their management is often limited, and they can be associated with multiple complications including biliary strictures, ductal or intrahepatic stones, and malignancy. We present the case of a young woman with a Type IVa choledochal cyst. The clinical features, imaging findings, and general operative strategy are discussed in detail, including a suggested general approach to patients with choledochal cysts. The classification and sequelae of choledochal cysts are reviewed and current theories as to the aetiology outlined.

Developmental malformations of tooth can occur due to various environmental and genetic factors playing role while tooth development. It is not unusual to find two or more such malformations in a dentition and in a single tooth. Simultaneous occurrence of dens invaginatus and dens evaginatus (talon cusp) is rare and complex. Hence, proper diagnosis and treatment plan is important so as to achieve favourable prognosis. This paper will discuss about such a rare combination in light of review on its various aspects.

This chapter discusses imaging cardiac developmental malfunctions in the mouse embryo. Studies of human genetic architecture cannot provide a mechanistic understanding of gene function in cardiac development, and analysis of gene-gene and gene-environment interactions in humans remains a challenge. These considerations necessitate the use of animal models, the most appropriate and widely used being the mouse. Like the human, the mouse has a four-chambered heart with a septated outflow tract, left-sided great arteries, and parallel pulmonary and systemic circulations. Common cardiac malformations such as septal, outflow tract, and aortic arch and pulmonary trunk defects can thus be identified in mouse embryos, and mouse mutations typically recapitulate the cardiac malformations observed in patients with mutations in the same genes (reviewed in Schneider and Bhattacharya, 2004). Imaging such a complex and dynamic structure as the developing heart plays a crucial role in such studies, underlying accurate assessment of phenotype. New anatomical imaging techniques such as optical projection tomography, high resolution episcopic microscopy and magnetic resonance imaging provide ways to supplement conventional histology with comprehensive image data, yielding three-dimensional models that allow systematic, quantitative comparisons of structure. These imaging methods have complementary strengths, and by combining them it is possible to envisage a powerful cardiac phenotyping pipeline. © 2010 Elsevier Inc. All rights reserved.

One of the rarest developmental malformations of the lip is congenital lip pits. They are usually seen as bilateral depressions in the vermilion zone of the lip and occur on the paramedian portion of the vermilion border of the lip. They are extremely rare in the upper lip. Lip pits are due to the failure of complete union of embryonic lateral sulci of the lip/notching of lip at an early stage of development with fixation of tissues of the base of the notch. Lip pits have also been associated with a variety of other congenital disorders and other malformations. The clinical and pathologic picture and the therapeutic aspects of this condition are discussed in this paper.

Tuberculosis is one of the biggest health challenge, the world is facing. Cervical lymphadenitis is a common manifestation of mycobacterial infections encountered in otorhinolaryngologic practices. It may be the manifestation of a systemic tuberculous disease or a unique clinical entity localized to neck. It remains a diagnostic and therapeutic challenge because it minimizes other pathological processes and eyelids in consistent physical and lab findings. A high index of suspicion is needed for the diagnosis of mycobact cervical lymphadenitis and should be considered in the differential diagnosis of a cervical mass especially in endemic areas. Key words: Cervicofacial masses; lymphadenopathy FNAB; HPE; developmental malformations; cystic lesions. DOI: 10.3126/saarctb.v5i2.3074 SAARC J. Tuber. Lung Dis. HIV/AIDS 2008 Vol.5(2) 31-35

Proteus syndrome is a rare congenital hamartomatous condition that is characterized by a wide range of malformations, occasionally involving the head and the face. Skin and skeletal developmental malformations are common and may be manifested in significant physical anomalies. In this report, we describe the cases of 2 patients affected by this condition. For one patient, a recurrence occurred 4 years after the elimination of cranial hyperostosis. In the second patient, although we observed macrosomia and peculiar countenance in the context of craniofacial hyperostosis, the patient did not visit a clinic for approximately 50 years before seeking treatment. The management of the craniofacial involvement is described, and a literature overview is presented.

Cell competition is a conserved mechanism where slow proliferating cells (so called losers) are eliminated by faster proliferating neighbors (so called winners) through apoptosis.1 It is an important process which prevents developmental malformations and maintains tissue fitness in aging adults.2 Recently, we have shown that the probability of elimination of loser cells correlates with the surface of contact between losers and winners in Myc-induced competition.3 Moreover, we have characterized an active mechanism that increases the surface of contact between losers and winners, hence accelerating the elimination of loser cells. This is the first indication that cell shape and mechanics can influence cell competition. Here, we will discuss the consequence of the relationship between shape and competition, as well as the relevance of this model for other modes of competition.

Vascular anomalies, although largely benign, can be clinically devastating and affect an astounding 5–10 % of children worldwide, many with lifelong affliction. Vascular anomalies fall into two main groups: (1) vascular tumors that are intrinsically proliferative and (2) vascular malformations that represent true errors in development of the embryonic vasculature. Diagnosis of vascular malformations and tumors can be challenging, because of overlapping histological and clinical features and poorly understood pathogenesis. Accurate diagnosis is essential for family planning and disease management and better targeted therapies. The recognition of genetic vascular disorders and molecular testing has provided better clarification of the classifications and a more precise diagnosis. Unfortunately, the etiology of many vascular anomalies remains unknown, and diagnosis is challenging even in the most knowledgeable multidisciplinary centers managing these patients. Molecular genetic testing offers almost immediate promise for accurate diagnosis. Mutations in specific genes have been identified in familial examples and more recently in some sporadic occurring examples. Although still largely unavailable commercially, molecular genetic testing is available for certain vascular anomalies (mostly on a research basis only) to aid the physician in diagnosis and treatment of the child. In this chapter, we strive to provide the most up-to-date information regarding gene mutations associated with vascular anomalies and molecular genetic testing currently available for diagnosis. It is recognized that clinical evaluation and histologic analysis play a large role in the accurate diagnosis of vascular anomalies; however, these topics are minimally addressed in this review.

Congenital and developmental malformations of the upper extremity are uncommon and their diagnosis can challenge radiologists. Many complex classification systems exist, the latest of which accounts for the complex embryology and pathogenetic mechanisms that govern the formation of these anomalies. Using appropriate descriptors allows for more specific diagnosis and improved consultation with referring pediatricians and surgeons, helping to guide medical and surgical interventions and, if indicated, further investigation for associated abnormalities and underlying syndromes. We review the imaging characteristics of upper limb malformations to help pediatric radiologists better understand the classification and workup necessary in these cases.

Von Meyenburg complexes, or biliary hamartomas, are frequently incidentally detected. They are usually easy to characterize with magnetic resonance imaging. However, in some occasions they are difficult to differentiate from other liver lesions, in particular from small liver metastases. Von Meyenburg complexes are developmental malformations of the ductal plate. They can be found in association with Caroli disease and Caroli syndrome. Like other ductal plate malformations, Von Meyenburg complexes associated with cholangiocarcinoma have been described and their relationship has been established. This review provides an update on the etiopathogenesis of Von Meyenburg complexes, illustrates the imaging features on ultrasound, CT and MRI of this condition and discusses the most common diagnostic pitfalls. The relationships between Von Meyenburg complexes and the various ductal plate malformations and the most recent literature data regarding the relationships between Von Meyenburg complexes and cholangiocarcinoma are presented.

Stereology is a sampling technique used to generate mathematically unbiased estimates of geometric properties of three-dimensional structures based on two-dimensional slices of the object. Using this method, volume and surface area estimates may be generated in a robust, reliable and time-efficient manner based on magnetic resonance (MR) image data. We present a method of determining the isoperimetric ratio, which may be used as an index of gyrification of the human cerebrum, using stereological volume and surface area estimates applied to in vivo MR image data. This parameter may be of use in identifying subtle cortical developmental malformations in diseases such as epilepsy and schizophrenia. We also conduct a series of inter- and intrarater repeatability tests based on 20 normal brains, which demonstrated the reliability and robustness of stereological techniques.

Developmental malformations are brain abnormalities that occur during embryogenesis. Neuronal migration disorders, including heterotopic lesions, constitute one type of such abnormalities. The aim of the study was to compare the epileptic clinical patterns of patients with periventricular nodular heterotopia (PNH) (G1) with those affected by subcortical heterotopia (SCH) (G2) looking for differences between both groups which, eventually, might suggest the type of the underlying malformation. The variables studied in both groups were: type of the heterotopia depicted on MRI studies, sex, age, age at seizure onset, annual seizure frequency, localization of the ictal symptomatogenic zone, characteristics of the EEG, other associated anomalies on the magnetic resonance images (MRI) besides the heterotopia, and response to treatment. The only difference found between both groups was the type of heterotopia as shown by MRI studies. The other assessed variables did not significantly (p>0.05) differ between groups. No differences in the clinical features characterizing epilepsy could be found in patients with PNH or SCH, being the images the only tool able to differentiate them.Las malformaciones de la corteza cerebral son un grupo de entidades que se producen durante las etapas del desarrollo embrionario y cuya manifestación clínica puede ser la epilepsia. Estas malformaciones pueden ser diagnosticadas in vivo a través de las imágenes por resonancia magnética (IRM). Un subtipo particular de éstas lo constituyen los trastornos en la migración neuronal, dentro de los cuales se ubican las heterotopías (HT). El objetivo del estudio fue comparar enfermos portadores de HT periventriculares (G1) con aquellos portadores de HT subcorticales (G2). Se analizaron las variables sexo, edad y edad de inicio de la epilepsia (EI) en años, antecedentes familiares (AF) o prenatales (AP), frecuencia anual de crisis (FAC) y características semiológicas de las crisis, hallazgos en el EEG e IRM y respuesta al tratamiento farmacológico. G1 (n=13): 8 mujeres (61.5%), edad promedio 32.9 ± 11.5 (rango 20-59), EI 13.7 ± 7.6 (rango 2-23), AF 1 caso (7.7%), AP en 1 (7.7%), FAC 28.3 ± 31.4 (rango 0-120), crisis multifocales en 5 (38.5%), crisis temporales en 5 pacientes (38.5%), EEG epileptiforme (EEGE) en 7 casos (53.8%), anomalías asociadas en las IRM (AAIRM) en 8 sujetos (61.5%) y 4 casos refractarios al tratamiento (30.7%). G2 (n=8): 6 mujeres (75%), edad promedio 30 ± 9.7 (rango 13-43), EI 11.1 ± 6.3 (rango 1-19), AP 2 (25%), FAC 30 ± 39.5 (rango 0-120), crisis multifocales en 4 sujetos (50%), crisis temporales en 5 pacientes (62.5%), EEGE en 7 casos (87.5%), AAIRM en 3 casos (37.5%) y 1 caso refractario al tratamiento (12.5%). El análisis de las diferentes variables clínicas analizadas no mostró diferencias significativas entre ambos grupos, siendo las imágenes el único elemento que permitió su diferenciación.

Focal developmental malformations of the lung are a heterogeneous group of lesions that display a variety of features. They often are thought to be quite distinct entities, but there is considerable overlap among these lesions. Both standard nomenclature and common usage do not identify clearly the components of these lesions in a distinctive fashion. A classification based on pathologic features is presented. A malformation sequence based on airway obstruction during development is proposed as a unifying pathogenetic mechanism for some seemingly unrelated lesions.

Developmental malformations of the teeth might result in alterations of their size, shape, and structure. An accessory cusp is a developmental alteration to the shape of the teeth and is more commonly found in anterior teeth, and its occurrence in permanent molars is quite rare. Accessory cusps occurring in permanent mandibular molars are termed as protostylids. Although they do not pose any significant problem with respect to the function and occlusion, it is of tremendous importance in forensic odontology. This case report presents a rare finding of protostylid on the permanent mandibular molar, and its clinical implications are illustrated.

The association between caffeine intake and various reproductive problems and developmental malformations has been widely reported, and although a clear consensus has not been reached, several studies correlate its use to many negative effects. Caffeine intake has been listed among the risk factors for developing neural tube defects (NTDs), a congenital malformation characterized by a multifactorial etiology in which genetic, environmental, and joint factors are involved. Several mechanisms could be associated to caffeine intake and NTDs: caffeine seems to play a fundamental role directly interacting with biological pathways linked to NTDs development and impairing micronutrients absorption. Folic acid supplementation is able to prevent 70% of NTDs, whereas 30% appears resistant to this treatment: myo-inositol supplementation seems to show positive effects in preventing folate-resistant NTDs both in animals and humans. Correlations between caffeine intake and myo-inositol deficiency are supported by several studies that provide evidence of caffeine's ability in impairing myo-inositol absorption and mimicking its deficiency through biologic mechanisms.

We describe the use of the fluorescent reporter compound CDr10b to label mid-intestinal structures in zebrafish larvae after simple immersion. CDr10b is deposited into the gut where it initially fills the lumen and is excreted. Using laser-mediated injury of the intestine, we show that CDr10b provides a useful readout of the integrity and repair of the epithelial cell barrier. In addition, CDr10b specifically labels the absorptive mid-intestine segment that is analogous to the mammalian small intestine. By perturbing retinoic acid signaling, which regulates the size of the mid-intestine segment, we show that CDr10b is a valuable tool to rapidly assess developmental malformations of the intestine in live animals.

Developmental malformations of lumbar transverse processes commonly include hypertrophy of the transverse process, overgrowth of the transverse process, and persistence of the transverse process epiphysis. To date, the intertransverse pseudarthrosis malformation has not been reported. In this case report, we identified a case of intertransverse pseudarthrosis through X-ray imaging, which was confirmed by CT scanning. And intertransverse pseudarthrosis of spine was proved by Surgery.

Gold nanoparticles (Au-NPs) are used in many applications, including the manufacture of products like cosmetics, paints, and electrochemical immunosensors, and in the detection, diagnosis, and treatment of tumors. However, there are no legal or recommended guidelines for protecting aquatic ecosystems from Au-NPs. In this study, we conducted a battery of bioassays and present toxicity values for two bacteria, one alga, one euglena, three cladoceran, and two fish species that were exposed to Au-NPs. Guideline values for protecting aquatic ecosystems from Au-NPs were derived using methods that are generally used to derive water-quality guidelines and are used in Australia, New Zealand, Canada, the European Community (EC), and the USA. Au-NPs had adverse effects on all test species, including growth inhibition of both bacteria, the alga, and the euglena; mortality and immobilization in the three cladocerans; and developmental malformations in the embryos and larvae of the two fish. Guideline values of 0.15 and 0.04 × 1010 particles/mL were derived for Au-NPs using a species sensitivity distribution (SSD) and assessment factor. The guideline value derived for Au-NPs using an assessment factor was more stringent than that derived using SSD. This is the first study to derive guideline values for nanoparticles in water environments.