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Developmental Anomalies (developmental + anomaly)
Selected AbstractsDevelopmental anomalies in skeletal remains from the Great Moravia and Middle Ages cemeteries at Devín (Slovakia)INTERNATIONAL JOURNAL OF OSTEOARCHAEOLOGY, Issue 5 2003S. Masnicová Abstract Developmental anomalies were scored and prevalences were computed for two skeletal collections from Devín (southwestern Slovakia). The first sample Devín-Hrad (DH) is dated to the Middle Ages (11th,12th century) and includes 217 skeletons. The second collection Devín-Za kostolom (FR) includes 112 burials and is dated to the Great Moravian period (9th century). In both samples, the evidence of spina bifida occulta occurred most frequently of all the defects examined (24% in DH, 23% in FR). Sacralization (8% in DH, 7% in FR) was more common than lumbarization (2% in DH, 0% in FR), and spondylolysis (7% in DH, 4% in FR) was relatively frequent in both samples. The other developmental defects occurred in only one or a few individuals and represented sporadic occurrences. Copyright © 2003 John Wiley & Sons, Ltd. [source] Ureteral obstruction caused by a duplicated anomaly of inferior vena cavaINTERNATIONAL JOURNAL OF UROLOGY, Issue 9 2005LIANG-TSAI WANG Abstract Developmental anomalies of inferior vena cava are a rare cause of ureteral obstruction. We report a case that presented with right upper ureteral obstruction that radiologically simulated a retrocaval ureter. An aberrant vessel, which caused obstruction of the right ureter was identified at operation and surgical relief of ureteral obstruction was performed. Inferior venocavography was performed postoperatively and disclosed an unusual incomplete duplication of inferior vena cava. Our findings suggested that ureteral obstruction by incompletely duplicated anomaly of the inferior vena cava should be included in the differential diagnosis of extrinsic ureteral obstruction. [source] Essential roles of Gli3 and sonic hedgehog in pattern formation and developmental anomalies caused by their dysfunctionCONGENITAL ANOMALIES, Issue 3 2006Jun Motoyama ABSTRACT Pattern formation along the body axis directs the proportion of different types of cells required for functional tissue structures. The secreted protein sonic hedgehog (Shh) and zinc finger transcription factor Gli3 are key players in pattern formation during brain and limb development; the antagonistic action of Shh towards Gli3 may be crucial for pattern formation. Recent findings from Shh/Gli3 double homozygous mutants suggest that a balance of both activities is required for the production of the normal proportion of different cell types during organogenesis. This conclusion contrasts with the alternative hypothesis that a Shh gradient directs the specification of several different cell types. The observations reviewed here offer a new perspective on understanding the pathogenesis of human birth defects caused by mutations of the Shh and Gli3 genes. [source] Ambient ultraviolet-B radiation reduces hatchling size in the common frog Rana temporariaECOGRAPHY, Issue 5 2000Maarit Pahkala Effects of ambient UV-B radiation and pH on hatchability and early development of Rana temporaria embryos were studied in field experiments conducted at two sites in Sweden. In neither of the populations did we find clear evidence for reduced hatchability or increased frequency of developmental anomalies of embryos exposed to ambient UV-B levels. However, in both populations hatchling size was significantly larger UV-B blocked as compared to control treatments, suggesting that ambient UV-B levels had a negative effect on early growth of embryos. This result is consistent with the hypothesis that the cellular UV-B damage repair mechanisms are costly and trades-off against early growth. Alternatively, UV-B induced photoproducts inhibiting DNA-transcription and thereby protein synthesis may directly reduce growth rate. Although low pH (5.0) had negative effects on hatchability and early embryonic growth, there was no evidence for synergistic effects of pH and UV-B on hatchability, frequency of developmental anomalies or early growth. The results suggest that increased levels of UV-B radiation may cause fitness loss in natural populations of the common frog. [source] Inherited disorders of human Toll-like receptor signaling: immunological implicationsIMMUNOLOGICAL REVIEWS, Issue 1 2005Cheng-Lung Ku Summary:,In vitro nine of 10 known human Toll-like receptors (TLRs) are engaged by well-defined chemical agonists that mimic microbial compounds, raising the possibility that human TLRs play a critical role in protective immunity in vivo. We thus review here the recently described human primary immunodeficiencies caused by germline mutations in genes encoding molecules involved in cell signaling downstream from TLRs. Subjects with anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) carry either X-linked recessive hypomorphic mutations in NEMO or autosomal dominant hypermorphic mutations in IKBA. Their cells show a broad defect in nuclear factor-,B (NF-,B) activation, with an impaired, but not abolished response to a large variety of stimuli including TLR agonists. EDA-ID patients show developmental anomalies of skin appendages and a broad spectrum of infectious diseases. Patients with autosomal recessive amorphic mutations in IRAK4 present a purely immunological syndrome and more restricted defects, with specific impairment of the Toll and interleukin-1 receptor (TIR),interleukin-1 receptor-associated kinase (IRAK) signaling pathway. In these subjects, the NF-,B- and mitogen-activated protein kinase-mediated induction of inflammatory cytokines in response to TIR agonists is impaired. The patients present a narrow range of pyogenic bacterial infections that become increasingly rare with age. Altogether, these data suggest that human TLRs play a critical role in host defense. However, they do not provide compelling evidence, as even the infectious phenotype of patients with mutations in IRAK4 may result from impaired signaling via receptors other than TLRs. Paradoxically, these experiments of nature raise the possibility that the entire set of human TLRs is largely redundant in protective immunity in vivo. [source] Effects of ultraviolet-B radiation and pH on early development of the moor frog Rana arvalisJOURNAL OF APPLIED ECOLOGY, Issue 3 2001Maarit Pahkala Summary 1,Although the potential negative effects of increased ultraviolet-B (UV-B) radiation on early life stages of aquatic organisms are widely recognized, possible synergistic effects with other stressors have seldom been studied outside the laboratory. We investigated the effects of UV-B radiation and pH on hatchability and early development of moor frog Rana arvalis eggs in the field and in laboratory experiments conducted during April 1998 and April 2000 in central Sweden. 2,In the field experiments, no evidence was found for reduced hatchability or increased frequency of developmental anomalies of embryos exposed to ambient levels of UV-B compared with embryos shielded from UV-B radiation. 3,Hatchlings shielded from ambient UV-B radiation did not grow larger than their exposed full-sibs, giving no support to the hypotheses that (i) the repair of cellular UV-B damage might be energetically costly nor (ii) that UV-B-induced photoproducts directly reduce growth. 4,Although low pH (5·0) reduced hatchability, increased frequency of developmental anomalies and reduced early embryonic growth in R. arvalis, there was no evidence for synergistic effects of pH and UV-B on any of these traits. 5,The lack of UV-B radiation effects on the development of R. arvalis embryos cannot be ascribed to relatively low effective daily doses of radiation (c. 0·43 kJ m,2) during the field experiments, as in the laboratory even higher doses at UV-B 1·25 kJ m,2 and 1·58 kJ m,2 (all DNA weighed) had no negative effects. 6,These results suggest that current levels of UV-B radiation in northern Europe are not likely to reduce fitness in natural populations of the moor frog, even in areas already stressed by acidity. [source] Sonographic study of the development of fetal corpus callosum in a Chinese populationJOURNAL OF CLINICAL ULTRASOUND, Issue 2 2009Hai-chun Zhang MM Abstract Purpose The observation of fetal corpus callosum (CC) is important for the prenatal sonographic assessment of fetal central nervous system development. The aim of this study was to investigate the development of normal Chinese fetal CC. Method CC measurements were performed using high-resolution transabdominal sonography on 622 Chinese fetuses between 16 and 39 weeks' gestation. The correlation between CC size and gestational age was investigated. Results The fetal CC length increased in a linear fashion during pregnancy. The length of the CC as a function of gestational age was expressed by the following regression equation: length (mm) = ,9.567 + 1.495 × gestational age (weeks) (r = 0.932, p < 0.001). Conclusion Knowledge of normal CC appearance may help identify developmental anomalies and enable accurate prenatal counseling. © 2008 Wiley Periodicals, Inc. J Clin Ultrasound, 2009 [source] The frequency of occurrence of abnormal frenal attachment of lips and enamel defects in Turner syndromeORAL DISEASES, Issue 2 2008A Kusiak Objective:, The aim of the work was to register the frequency of occurrence of abnormal frenal attachment of lips and enamel defects and find the correlation between these anomalies and three types of Turner syndrome. Materials and methods:, Fifty patients (aged 20,40 years) were clinically and cytogenetically diagnosed and divided into three groups, according to karyotype: 45,X (17 cases), with structural aberrations of chromosome X (12 cases) and with mosaic karyotype (21 cases). The control group consisted of 51 healthy woman aged 21,40 years. Subjects were screened for developmental anomalies in the labial frenula and enamel defects in three groups of Turner syndrome. Results:, Some significant anomalies of soft and hard tissues were found in studied patients: abnormal frenal attachments (42% of cases), enamel opacities (58% of cases) and enamel hypoplasia (38% of cases). Differences in the occurrence of these anomaly in all group with Turner syndrome in comparison with the control group were significantly different. Enamel defects were prevalent in the patients with karyotype 45,X and patients with structural aberrations of chromosome X in comparison with the mosaic karyotype. Conclusion:, The results of the present study have shown, that abnormal attachment of lips and enamel defects were more frequent in Turner syndrome patients than in the control group. Enamel defects were correlated with the karyotypes of Turner syndrome and abnormal attachment of lips was not correlated with the karyotypes of Turner syndrome. [source] The Biology of the Development of the Genital Organs.ANATOMIA, HISTOLOGIA, EMBRYOLOGIA, Issue 2005A Multimedia Teaching Program In my presentation, I review the sexual differentiation from the genetic sex until the appearance of the external genitalia and the developmental anomalies to use an animated cartoon. The first critical stage of sexual differentiation occurs at the moment of fertilization, when the genetic sex of the zygote is determined by the nature of the sex chromosome contributed by the sperm. Although an XY zygote is destined to become a male, no distinctive differences between the early development of male and female embryos have been noted. This is accomplished after migration of the primordial germ cell into the early gonad. Because of the early commonality of genital structures, anomalies are the result of abnormal retention or loss of appropriate genital structures. Therefore, most genital anomalies are some form of intersex. During the early differentiation of the gonads, while the mesonephros is still the dominant excretory organ, the gonads arise as ridge like thickenings (gonadal ridge) on its ventromedial face. Differentiation of the indifferent gonads into ovaries or testes occurs after the arrival of the primordial germ cells. The primordial germ cells arise from the endodermal cells of the yolk. The principal function of the Y chromosome is to direct the differentiation of the presented indifferent gonad into a testis from the sixth week, while two X chromosome are presented the ovaries start to develop, from the 12th week. The next and most obvious phase in sexual differentiation of the embryo is the differentiation of the somatic sex. The early embryo develops a dual set of potential genital ducts, one is the original mesonephric (Wolff ) ducts, which persists after degeneration of the mesonephros as an excretory organ, and the another is newly formed pair of ducts called the paramesonephric (Müllerian) ducts. Under the influence of testosterone secreted by the testes, the mesonephric ducts develop into the duct system through which the spermatozoa are conveyed from the testes to the urethra. The potentially female paramesonephric ducts regress under the influence of another product of the embryonic testes, the Müllerian inhibitory factor, a glycoprotein secreted by the Sertoli cells. In genetically female embryos, neither testosterone nor Müllerian inhibitory factor are secreted by the gonads. In the absence of testosterone the mesonephric ducts regress and lack of Müllerian inhibitory factor permits the paramesonephric ducts to develop into oviducts, the uterus and part of the vagina. The next stage is the development of the external genitalia. In very young embryos, a vaguely outlined elevation known as the genital eminence can be seen in the midline, just cephalic to the proctodeal depression. This is soon differentiated into a central prominence (genital tubercle) closely flanked by a pair of folds (genital folds) extending toward the proctodeum. Somewhat farther to either side are rounded elevation known as the genital swellings. From this common starting point the external genitalia of both sex differentiate. If the individual is to develop into a male the genital tubercle, under the influence of dihydrotestosterone, becomes greatly elongated to form the penis and the genital swellings become enlarged to form the scrotal pouches. During the growth of the penis a groove develops along the entire length of its caudal face and is continuous with the slit-like opening of the urogenital sinus. This groove later becomes closed over by a ventral fusion of the genital folds, establishing the penile portion of the urethra. The portion of the urogenital sinus between the neck of the bladder and the original opening of the urogenital sinus becomes the prostetic urethra. In the female, the genital tubercle becomes the clitoris, the genital folds become the labia minora, and the genital swellings become the labia majora. The urethra in the female is derived from the urogenital sinus, being homologous with the prostatic portion of the male urethra. [source] Compromised first permanent molars: an orthodontic perspectiveAUSTRALIAN DENTAL JOURNAL, Issue 1 2010DC-V Ong Abstract The first permanent molar (FPM) is commonly subject to significant compromise which may arise due to caries or endodontic complication, or from developmental anomalies such as hypoplasia. Compromised teeth with questionable prognosis may result in short and long-term clinical dilemmas. This review article highlights the factors that require careful consideration when a compromised FPM is detected and the importance of timely FPM extraction. Several clinical cases are described in detail to discuss possible treatment options from the orthodontic perspective. [source] Wnt signaling in caudal dysgenesis and diabetic embryopathyBIRTH DEFECTS RESEARCH, Issue 10 2008Gabriela Pavlinkova Abstract BACKGROUND: Congenital defects are a major complication of diabetic pregnancy, and the leading cause of infant death in the first year of life. Caudal dysgenesis, occurring up to 200-fold more frequently in children born to diabetic mothers, is a hallmark of diabetic pregnancy. Given that there is also an at least threefold higher risk for heart defects and NTDs, it is important to identify the underlying molecular mechanisms for aberrant embryonic development. METHODS: We have investigated gene expression in a transgenic mouse model of caudal dysgenesis, and in a pharmacological model using situ hybridization and quantitative real-time PCR. RESULTS: We identified altered expression of several molecules that control developmental processes and embryonic growth. CONCLUSIONS: The results from our models point towards major implication of altered Wnt signaling in the pathogenesis of developmental anomalies associated with embryonic exposure to maternal diabetes. Birth Defects Research (Part A) 82:710,719, 2008. © 2008 Wiley-Liss, Inc. [source] 2465: Phenotype/genotype evolution in corneal embryologic malformationsACTA OPHTHALMOLOGICA, Issue 2010KK NISCHAL Purpose To describe the evolution of a clinically useful classification of corneal developmental anomalies which has also allowed more accurate phenotype/genotype correlation. Methods The use of clinical documentation using anterior segment photography, normal ultrasound of the eyeball, and high frequency ultrasound and where available histology of host tissue has allowed detailed phenotypes to be developed . Intraoperative recordings of phenotype have also been noted. Genotyping of specific patterns groupings of corneal developmental anomaly phenotypes. Retrospective analysis of clnical outcome with or without surgical intervention. Results Corneal developmental anomalies are best considered in terms of primary corneal disease and secondary corneal disease. The former includes dystophies ( CHED, PPCD and X-L ECD) , corneal dermoids and isolated sclerocornea ( CNA 1 and 2 ).Secondary corneal disease includes secondary to, iridotrabecular anomalies ( eg congenital glaucoma, aniridia, axenfeld -rieger anomaly), kerato-irido-lenticular dysgenesis ( iridolenticular adhesions( Peters type I), failure of lens to form,separate or move away from the cornea). Conclusion Using this classification prognosis for intervention can be shown to be mor successful in primary corneal developmental anomalies. Also by considering groups of patients with similar disease eg primary aphakia, appropriate genotyping can be done eg FOXE3 analysis for children with primary aphakia . More acccurate phenotype allows better clinical classification and ultimately better genotyping of corneal developmental anomalies [source] 2163: Identification of novel disease gene for primary congenital glaucoma (PCG) through homozygosity mapping and next-generation sequencing strategies in a large consanguineous pedigreeACTA OPHTHALMOLOGICA, Issue 2010H VERDIN Purpose Primary congenital glaucoma (PCG) is caused by developmental anomalies of the trabecular meshwork and the anterior chamber angle resulting in an increased ocular pressure (IOP) and optic nerve damage. In general PCG displays an autosomal recessive inheritance pattern and is genetically heterogeneous. To date, three PCG loci are known, namely GLC3A, GLC3B and GLC3C, and two causal genes have been identified, CYP1B1 located in the GLC3A locus and LTPB2 located at 1.3 MB proximal to the GLC3C locus. The purpose of the current study is to identify the causal disease gene in a large consanguineous family with PCG, originating from Jordany. CYP1B1 mutations and linkage to the LTBP2, GLCB3 and GLCC3 locus were previously excluded. Methods In a first step, DNA from members from the consanguineous family will be genotyped by 250K GeneChip Mapping Affymetrix arrays. Homozygosity mapping will be applied to identify potential disease loci, using a homemade Perl script. Next, microsatellite analysis will be performed in order to confirm findings and to narrow down candidate regions. Subsequently, candidate regions of interest will be captured (Agilent) and sequenced on the Illumina Genome Analyser IIx (GAIIx). Gene and variant prioritization will be done using in-house developed software, followed by segregation analysis and screening in control individuals. At last, a cohort of 30 molecularly unsolved PCG patients will be screened for mutations in the newly identified disease. Conclusion The identification of a new disease gene for PCG may lead to better insights into the molecular pathogenesis of glaucoma, and might uncover novel therapeutic strategies. [source] Median raphe cyst in the scrotum, mimicking a serous borderline tumor, associated with cryptorchidism after orchiopecxyINTERNATIONAL JOURNAL OF UROLOGY, Issue 12 2004NOBORU HARA Abstract, Median raphe cyst (MRC) is a benign lesion occurring predominantly in the ventral surface of the penises of young men and is an embryological developmental anomaly of the male genitalia. Serous borderline tumors (SBT) are found most frequently in the female ovary and only several cases with SBT of the male genitalia have been reported. We describe a case of MRC with features of SBT, which appeared in the scrotum of a 9-year-old boy after orchiopexy and was associated with surgery for cryptorchidism. The cyst arose on the right testicular tunica and consisted of cystic components with intracystic papillae lined by stratified epithelial cells, some of which showed mild cytological atypia and sporadic mitosis. These epithelial cells expressed CA 125, CA 19-9, carcinoembryonic antigen, estrogen receptor and progesterone receptor. Although no cases of MRC with characteristics of SBT in association with the rete testis has been described, the current report gives additional information for follow-up of cryptorchidism. [source] Ectopic sebaceous gland: a developmental anomalyJOURNAL OF CUTANEOUS PATHOLOGY, Issue 7 2006Jaime A. Tschen This is an incidental finding in one of two biopsies from his chin, performed as part of the workup for a recalcitrant perioral acneiform eruption. The embryogenesis and development of sebaceous glands in human scalp hair follicles are reviewed. To our knowledge, this is the first report of such a developmental anomaly. [source] Marinesco-Sjögren syndrome with atrophy of the brain stem tegmentum and dysplastic cytoarchitecture in the cerebral cortexNEUROPATHOLOGY, Issue 5 2008Kenji Sakai Marinesco-Sjögren syndrome (MSS) is a progressive multisystem disease with autosomal recessive inheritance characterized by cataracts, mental retardation, and cerebellar ataxia. Recently, two causative genes for MSS, SIL1 and SARA2, have been identified. On the other hand, the histopathologic features of the CNS in this syndrome have not yet been clarified in detail. We report here the features of an autopsy case of MSS with progressive myopathy, in which atrophy of the cerebellum and brain stem tegmentum, retinal degeneration, and dysplastic cytoarchitecture in the cerebral cortex were evident. An elder brother of the patient showed quite similar symptoms, implying an autosomal recessive mode of inheritance. However, we detected no mutations in the available genes. This case appears to represent an unusual example of MSS manifesting widespread developmental anomaly and neuronal degeneration in the CNS. [source] Familial neuroendocrine cell hyperplasia of infancy,,PEDIATRIC PULMONOLOGY, Issue 8 2010J. Popler MD Abstract Background Neuroendocrine cell hyperplasia of infancy (NEHI) is a recently described children's interstitial lung disease (chILD) disorder of unknown etiology. It manifests clinically with tachypnea, retractions, hypoxemia, and crackles. The characteristic radiographic appearance consists of pulmonary hyperexpansion and ground-glass densities on high-resolution computed tomography (HRCT). Lung histology shows hyperplasia of bombesin-immunopositive neuroendocrine cells within distal bronchioles and alveolar ducts without other identifiable lung pathology or developmental anomaly. Methods We describe four families with multiple siblings diagnosed with NEHI. Cases were identified at three pediatric centers. Inclusion criteria included clinical findings consistent with NEHI, lung biopsy confirmation in the index case, and a diagnostic HRCT or biopsy in other siblings. Results Each family had a proband diagnosed with NEHI based upon pathologic review, and at least one additional sibling diagnosed either by pathologic review or HRCT. All patients presented between 2 and 15 months of age. Both male and female children were affected. The majority of the patients underwent both HRCT and lung biopsy. There were no deaths among affected children. No environmental exposures or other potential etiologies were identified as a cause of presenting symptoms. Conclusions The familial occurrence of NEHI suggests the possibility of a genetic etiology for this disorder and highlights the importance of taking a complete family medical history for infants presenting with a suggestive clinical picture. Identification of familial NEHI patients allows for the opportunity to further our understanding of this disorder, its natural history, the phenotypic spectrum, and potential genetic causes. Pediatr. Pulmonol. 2010; 45:749,755. © 2010 Wiley-Liss, Inc. [source] Atresia of the submandibular duct orifices: an unusual cause of feeding problems and failure to thrive in an infantACTA PAEDIATRICA, Issue 7 2010Eva Ellegĺrd Abstract Atresia of the submandibular duct orifice is a rare developmental anomaly, which causes swelling of the duct by accumulation of saliva. The cystic mass in the floor of the mouth can cause feeding problems, which can be treated by surgical opening of the duct. We report the first Swedish case in a male infant, who had severe difficulties to feed because of bilateral swellings of the submandibular ducts caused by orifice atresia. Conclusion: This is the first case that has described failure to thrive because of this condition and catch up after treatment. It is important to remember that evaluation of feeding problem in an infant must include inspection of the oral cavity. [source] Naevus comedonicus: a spectrum of body involvementCLINICAL & EXPERIMENTAL DERMATOLOGY, Issue 5 2007K. K. Guldbakke Summary, Naevus comedonicus (NC) is a rare developmental anomaly, with <,200 cases reported in the literature. It usually occurs on the face, neck or chest, appearing as groups of closely arranged dilated follicular openings with keratin plugs. Several associations have been made in the literature. We review the current literature, emphasizing the clinical features, associated conditions and therapeutic options. [source] Development of the coronary vasculature and its implications for coronary abnormalities in general and specifically in pulmonary atresia without ventricular septal defectACTA PAEDIATRICA, Issue 2004AC Gittenberger-de Groot Aim: Coronary vascular anomalies are an important factor in congenital heart disease in the neonate. However, our knowledge of the pathomorphogenesis is still defective. Material and methods: 1) Study of coronary anomaly variations in congenital heart disease using specimens and 2) study of the role of epicardium-derived cells (EPDC) and neural crest cells in coronary vascular formation using quail-chicken chimeras. Results: The clinical and pathological data revealed the existence of ventriculo-coronary arterial communications during fetal life before pulmonary atresia was established. This supported a primary coronary developmental anomaly as the origin of some cases of pulmonary atresia as opposed to other cases in which the pulmonary orifice atresia was the primary anomaly. Our experimental work showed the high relevance of the development of the epicardium and epicardium-derived cells for the formation of the coronary vasculature, and showed the coronary vascular ingrowth into the myocardium and subsequently into the aorta and the right atrium. The absence of epicardium-derived cells leads to embryonic death, while delayed outgrowth could result in the absence of the main coronary arteries to pinpoint orifice formation. In these cases, the circulation was maintained through ventriculocoronary arterial communications. Neural crest cells were important for the patterning of the coronary vasculature. We have extended this knowledge to a number of other heart malformations. Conclusions: Coronary vascular anomalies are highly linked to the development of extracardiac contributors like the epicardium and the neural crest. A proper interaction between these cell types and the myocardium and aortic arterial wall are important for normal vascular development. [source] | |||||||||||||