Developmental Anomalies

Developmental defects and pathological changes on skulls from family crypt in the St. Catherine church ruins near village Dechtice, district Trnava. Three aristocratic families (the Labszánszkys from the Korlátko castle, the Erdődys and the Apponyis) were buried in St. Catherine church during the 18th century. Skeletal material from one of three crypts was examined. It is not sure to which family the skeletal remains belong, although the historical sources indicate the Labsánszky family. The present article provides results of pathological changes and developmental defects investigation on craniological material. Analysis provided interesting examples of traumatic lesions, occipitocervical border shifting, metopism, non-synostotic plagiocephaly and coronoid hyperplasia.

The optic nerve, also known as the second cranial nerve, is composed of axons that transmit visual information from the neurosensory retina to the visual cortex. There are multiple pathologies that can affect the human optic nerve. Congenital anomalies of the optic nerve include myelinated nerve fibers, morning glory syndrome, optic nerve choristoma, optic nerve coloboma, optic nerve hypoplasia and aplasia, and others. Tumors that can affect the optic nerve (ON) may occur primarily from within the nerve itself, from the surrounding optic nerve sheath (ONS), or secondarily spreading to the nerve from a distant site. They include optic pathway glioma, medulloepithelioma, oligodendroglioma, optic nerve sheath meningioma, and others. Here in this chapter, we will review the optic nerve anatomy, embryology, and physiology in addition to assessment of optic nerve function. Moreover, the clinical features, imaging findings, pathology, and treatment options of the most common and some rare congenital anomalies and primary tumors of the ON and sheath will be reviewed.

This paper outlines a psychoanalytic contribution to a growing research field in psychiatry: that of psychotic vulnerability, and the related neurogenetic modeling of schizophrenia. We explore this contribution by focusing on recent studies concerning a neurodevelopmental disorder, the 22q11.2 microdeletion syndrome-which comprises DiGeorge syndrome in particular. It is one of the most common rare genetic syndromes, and the patients that it affects present a very high rate of psychotic symptoms (between 30 and 40%). For this reason, it has sparked an increasing number of clinical research projects which give it a paradigmatic status, as much for psychotic vulnerability as for potential neurobiological and genetic markers of schizophrenia. This syndrome illustrates one of the major stakes in contemporary psychopathology: the articulation of clinical, neurocognitive, and genetic approaches in a pluri-disciplinary manner. We seek to show that psychoanalysis, when it participates in this articulation, opens up specific hypotheses and research perspectives. In particular, based on the epidemiological observation of the role of anxiety as a predictor for psychosis, we underline the potential relevance of psychoanalytically oriented differential clinical practice and the psychodynamics of anxiety: they can contribute to studies and clinical follow-up on the 22q11.2 microdeletion syndrome and, more widely, to research on the detection and prevention of psychotic vulnerability.

INTRODUCTION AND IMPORTANCE: Choristomas are benign growth of normal tissue in abnormal location and in the ophthalmic practice, they are more commonly found in the epibulbar region. Intraocular choristoma has been reported in different ocular structures but it is very rare especially in association with microphthalmos.
CASE PRESENTATION: We present a 13-month-old child with bilateral microphthalmia with the left side being more significantly smaller than the right that required enucleation for introducing a larger silicone implant. The histopathological examination revealed an intraocular choristoma consisting of chondroid and adipose tissue with surrounding fibrosis. Other areas in the globe were also underdeveloped and dysplastic including the optic nerve, which was replaced by dense wavy collagen fibers and fibrovascular tissue.
DISCUSSION: Even though choristomas are benign, they may be extensive interfering with visual development especially the ones involving the epibulbar area.
Systemic disease can have choristomas as an ocular feature such as in Goldenhar-Gorlin syndrome. Choristomas inside the eye are rare and they commonly involve the uveal tissue and the optic nerve head mostly in the form of ectopic glandular tissue and choroidal osseous choristoma. Our case is unique in its intraocular retrolental location, composition of chondroid tissue and fat, in addition to the fact that it was found within a microphthalmic globe with other interesting histopathological findings. CONCLUSION: We report a case of an incidental finding of intraocular choristoma with associated microphthalmia, genetic testing may be useful for establishing a genetic etiology in such cases even in the absence of dysmorphic features.

The developmental anomalies are reported in this study. The first and second abnormally are presented in right pedipalps of Paraorthochirus and Orthochirus (Buthidae) while Paraorthochirus pedipalp just includes coxa, trochanter and without other parts (femur, patella, movable and fixed finger). The right pedipalp of Orthochirus specimen has abnormally too; it has all parts ofpedipalp except complete fixed finger. In both of scorpions, the left pedipalp is normal. Another case is present in venom vesicle of Hemiscourpius (Hemiscorpiidae). Pictures and morphometric measurements for three specimens are given.

The optic nerve, also known as the second cranial nerve, is composed of axons that transmit visual information from the neurosensory retina to the visual cortex. There are multiple pathologies that can affect the human optic nerve. Congenital anomalies of the optic nerve include myelinated nerve fibers, morning glory syndrome, optic nerve choristoma, optic nerve coloboma, optic nerve hypoplasia and aplasia, and others. Tumors that can affect the optic nerve (ON) may occur primarily from within the nerve itself, from the surrounding optic nerve sheath (ONS), or secondarily spreading to the nerve from a distant site. They include optic pathway glioma, medulloepithelioma, oligodendroglioma, optic nerve sheath meningioma, and others. Here in this chapter, we will review the optic nerve anatomy, embryology, and physiology in addition to assessment of optic nerve function. Moreover, the clinical features, imaging findings, pathology, and treatment options of the most common and some rare congenital anomalies and primary tumors of the ON and sheath will be reviewed.

On articule la médecine génétique, la pédopsychiatrie et la psychopathologie psychanalytique pour proposer une caractérisation psychanalytique de l’impact psychique d’une pathologie développementale d’origine génétique à fort versant neurologique, la microdélétion 22q11.2. Après une caractérisation de la microdélétion, et du style relationnel des enfants qui en sont affectés, nous soulignons d’abord l’effraction du narcissisme familial que représente cette atteinte, et les voies par lesquelles la contenir en travaillant l’annonce. Nous proposons ensuite d’intégrer à la prise en charge polyfactorielle un suivi psychothérapique de la famille, et de l’enfant, centrés sur l’étayage du mouvement interactif vers autrui que l’enfant manifeste spontanément. Nous indiquons quelques pistes suivant lesquelles déployer cet étayage.

In this paper, a possible case of Klippel-Feil syndrome (KFS) from Vráble, Slovakia, is presented and discussed as regards the individual’s life within community. KFS is a rare congenital disease, most frequently manifesting as synostosis of the cervical spine. In a Neolithic male from Slovakia aged 15 - 25, fusion of two cervical vertebrae was recorded. Synthesis of only a few vertebral segments is typical for KFS type II, usually associated with autosomal dominant inheritance. In addition to the unification of vertebrae, a notochord defect (linear cleft) on the lower thoracic vertebra was visible. Organ malformations and other health problems often accompany KFS, potentially affecting individual’s life within a community. Despite that the bones of the man with possible KFS were moved after death, probably by small animals, and the position of this individual could not be firmly estimated, no skull has been associated with the skeleton. Two more individuals at the site were interred without their skulls, moreover in positions different from the rest of the Vráble skeletons. Moreover, both these skeletons manifest congenital defects of the spine (spina bifida, spondylolysis, and butterfly vertebra). All considered, different treatment of individuals with anomalies and/or of abnormal health/appearance is suggested for this Neolithic community.

On articule la medecine genetique, la pedopsychiatrie et la psychopathologie psychanalytique pour proposer une caracterisation psychanalytique de l’impact psychique d’une pathologie developpementale d’origine genetique a fort versant neurologique, la microdeletion 22q11.2. Apres une caracterisation de la microdeletion, et du style relationnel des enfants qui en sont affectes, nous soulignons d’abord l’effraction du narcissisme familial que represente cette atteinte, et les voies par lesquelles la contenir en travaillant l’annonce. Nous proposons ensuite d’integrer a la prise en charge polyfactorielle un suivi psychotherapique de la famille, et de l’enfant, centres sur l’etayage du mouvement interactif vers autrui que l’enfant manifeste spontanement. Nous indiquons quelques pistes suivant lesquelles deployer cet etayage.

The optic nerve, also known as the second cranial nerve, is composed of axons that transmit visual information from the neurosensory retina to the visual cortex. There are multiple pathologies that can affect the human optic nerve. Congenital anomalies of the optic nerve include myelinated nerve fibers, morning glory syndrome, optic nerve choristoma, optic nerve coloboma, optic nerve hypoplasia and aplasia, and others. Tumors that can affect the optic nerve (ON) may occur primarily from within the nerve itself, from the surrounding optic nerve sheath (ONS), or secondarily spreading to the nerve from a distant site. They include optic pathway glioma, medulloepithelioma, oligodendroglioma, optic nerve sheath meningioma, and others. Here in this chapter, we will review the optic nerve anatomy, embryology, and physiology in addition to assessment of optic nerve function. Moreover, the clinical features, imaging findings, pathology, and treatment options of the most common and some rare congenital anomalies and primary tumors of the ON and sheath will be reviewed.

The optic nerve, also known as the second cranial nerve, is composed of axons that transmit visual information from the neurosensory retina to the visual cortex. There are multiple pathologies that can affect the human optic nerve. Congenital anomalies of the optic nerve include myelinated nerve fibers, morning glory syndrome, optic nerve choristoma, optic nerve coloboma, optic nerve hypoplasia and aplasia, and others. Tumors that can affect the optic nerve (ON) may occur primarily from within the nerve itself, from the surrounding optic nerve sheath (ONS), or secondarily spreading to the nerve from a distant site. They include optic pathway glioma, medulloepithelioma, oligodendroglioma, optic nerve sheath meningioma, and others. Here in this chapter, we will review the optic nerve anatomy, embryology, and physiology in addition to assessment of optic nerve function. Moreover, the clinical features, imaging findings, pathology, and treatment options of the most common and some rare congenital anomalies and primary tumors of the ON and sheath will be reviewed.

The developmental anomalies are reported in this study. The first and second abnormally are presented in right pedipalps of Paraorthochirus and Orthochirus (Buthidae) while Paraorthochirus pedipalp just includes coxa, trochanter and without other parts (femur, patella, movable and fixed finger). The right pedipalp of Orthochirus specimen has abnormally too; it has all parts ofpedipalp except complete fixed finger. In both of scorpions, the left pedipalp is normal. Another case is present in venom vesicle of Hemiscourpius (Hemiscorpiidae). Pictures and morphometric measurements for three specimens are given.

Bisphenol-A (BPA) is one of the important industrial chemicals used in manufacture of polycarbonate, epoxy resins, and in the packing industry. It is released into the environment from the industries producing or incorporating BPA, and reaches detectable levels in aquatic environments. In this investigation, the embryo-toxic effects of BPA were analyzed during the development of the sea urchin Arbacia lixula from the post-fertilization to pluteus stage (72 h). Sea urchin embryos were exposed to BPA concentrations ranging from 5 to 3500 µg/L. The effects on developing embryos were evaluated by scoring normal plutei and developmental defects, such as retarded plutei, skeletal malformations, blocked gastrula/blastula and dead embryos/ larvae. Following exposure to BPA, a concentrationrelated increase in the number of larvae with skeletal malformations at pluteus stage was observed. The EC 50 for 72 h was determined to be 1396 µg/L, and the NOEL (no observable effect level) 70 µg/L.