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Midline Defects (midline + defect)
Selected AbstractsReverse latissimus dorsi musculocutaneous flap for reconstruction of lumbar radiation ulcerTHE JOURNAL OF DERMATOLOGY, Issue 8 2007Sei-ichiro MOTEGI ABSTRACT The surgical treatment of large, deep defects on the midline of the lower back or lumbar area comprises difficult reconstructive challenges. Various flaps have been designed to reconstruct the defect area. We herein report a 70-year-old Japanese woman with a large, deep ulcer in the midline of the lower back, caused by postoperative radiation therapy for eccrine porocarcinoma. The ulcer was successfully treated with surgical debridement followed by reverse latissimus dorsi musculocutaneous flap. This flap is reliable and useful for reconstruction of a large, deep midline defect of the lower back, having large and bulky tissue with a sufficient blood supply. [source] Bladder exstrophy-epispadias complexBIRTH DEFECTS RESEARCH, Issue 6 2009Michael Ludwig Abstract The bladder exstrophy-epispadias complex (BEEC) represents an anterior midline defect with variable expression comprising a spectrum of anomalies involving the abdominal wall, pelvis, urinary tract, genitalia, and occasionally the spine and anus. The vast majority of BEEC cases are classified as non-syndromic and the etiology of this malformation is still unknown. This review presents the current state of knowledge on this multifactorial disorder, including historical retrospect, phenotypic and anatomical characterization, epidemiology, proposed developmental mechanisms, existing animal models, and implicated genetic and environmental components. These published lines of evidence argue strongly that BEEC occurs as a result of strong genetic predisposition that is yet to be deciphered. Birth Defects Research (Part A), 2009. © 2009 Wiley-Liss, Inc. [source] Craniorachischisis and Heterotaxia with Heart Disease in Twins: Link or Change Nature?CONGENITAL HEART DISEASE, Issue 5 2010Sebastiano Bianca MD ABSTRACT Craniorachischisis is a rare neural tube defect in which both acrania and a complete schisis of the vertebral column are present. Heterotaxy results from failure to establish normal left,right asymmetry during embryonic development and is characterized by a variable group of congenital anomalies that include complex cardiac malformations and situs inversus or situs ambiguous. We report a diamniotic twin pregnancy with two malformed fetuses affected one by craniorachischisis and the other by heterotaxya with paired right-sided viscera, asplenia, and complex congenital heart disease. The occurrence of severe congenital anomalies in both members of the twin pair implies a strong influence of genetic factors. At present, the genetic basis determining the different phenotypes observed in our twins is unknown. Our case with the simultaneous presence of both midline and laterality defects in twins supports the hypothesis that the midline plays a critical role in establishing left,right asymmetry in the body and that a mutation in a gene responsible for both heterotaxy and midline defects may be strongly supposed. [source] Abnormal venous and arterial patterning in chordin mutantsDEVELOPMENTAL DYNAMICS, Issue 9 2007Emmanuèle C. Délot Abstract Classic dye injection methods yielded amazingly detailed images of normal and pathological development of the cardiovascular system. However, because these methods rely on the beating heart of diffuse the dyes, the vessels visualized have been limited to the arterial tree, and our knowledge of vein development is lagging. In order to solve this problem, we injected pigmented methylsalicylate resins in mouse embryos after they were fixed and made transparent. This new technique allowed us to image the venous system and prompted the discovery of multiple venous anomalies in Chord,/, mutant mice. Genetic inactivation of Chordin, an inhibitor of the Bone Morphogenetic Protein signaling pathway, results in neural crest defects affecting heart and neck organs, as seen in DiGeorge syndrome patients. Injection into the descending aorta of Chrd,/, mutants demonstrated how a very severe early phenotype of the aortic arches develops into persistent truncus arteriosus. In addition, injection into the atrium revealed several patterning defects of the anterior cardinal veins and their tributaries, including absence of segments, looping and midline defects. The signals that govern the development of the individual cephalic veins are unknown, but our results show that the Bone Morphogenetic Protein pathway is necessary for the process. Developmental Dynamics 236:2586,2593, 2007. © 2007 Wiley-Liss, Inc. [source] Single median maxillary central incisor: New data and mutation reviewBIRTH DEFECTS RESEARCH, Issue 8 2007Kênia B. El-Jaick Abstract BACKGROUND: Single median maxillary central incisor (SMMCI) is a rare anomaly that may occur alone or associated with other conditions, frequently as part of the holoprosencephaly (HPE) spectrum. However, it has been suggested that SMMCI alone, or associated with some midline defects, may be considered a different entity from HPE (OMIM: 147250). Families with SMMCI, without HPE cases, are difficult to counsel for the risk of HPE in future generations because the same midline defects described as part of the "SMMCI syndrome" can also be part of the HPE spectrum. METHODS: We screened five cases of SMMCI for mutations in three HPE genes, SHH, TGIF, and SIX3. RESULTS: A missense mutation c.686C>T was found in the gene SIX3 of one patient, which did not differ from the accepted 20% of known HPE gene mutations among all HPE cases. Our results and an extensive literature review of gene mutations in patients with SMMCI showed that 27/28 of them were in HPE genes: SHH (n = 21), SIX3 (n = 3), TGIF (n = 1), GLI2 (n = 1), and PTCH (n = 1), and only one in the SALL4 gene. CONCLUSIONS: The clinical findings in patients with SMMCI without HPE in families with mutations in HPE genes cannot be distinguished from the findings reported in the SMMCI syndrome. Therefore, persons with SMMCI and their relatives should be carefully investigated for related midline disorders, especially of the HPE spectrum, and all known HPE genes screened. Birth Defects Research (Part A), 2007. © 2007 Wiley-Liss, Inc. [source] Orofacial clefts and spina bifida: N -Acetyltransferase phenotype, maternal smoking, and medication useBIRTH DEFECTS RESEARCH, Issue 5 2002Iris A.L.M. Van Rooij Background Orofacial clefts and spina bifida are midline defects with a multifactorial etiology. Maternal smoking and medication use periconceptionally have been studied as risk factors for these malformations. The biotransformation enzyme N -acetyltransferase 2 (NAT2), plays a part in the inactivation of toxic compounds in cigarette smoke and medication. We investigated maternal NAT2 phenotype and the interaction with smoking and medication use periconceptionally on orofacial cleft and spina bifida risk in offspring. Methods In this case-control study of 45 mothers of orofacial cleft children, 39 mothers of spina bifida children and 73 control mothers, NAT2 acetylator status was determined by measuring urinary caffeine metabolites. Results Slow NAT2 acetylators showed no increased risk for orofacial cleft (OR = 1.0, 95% CI: 0.4,2.3) or spina bifida offspring (OR = 0.7, 95% CI: 0.3,1.7) compared to fast NAT2 acetylators. More mothers with orofacial cleft and spina bifida offspring smoked cigarettes (36% and 23% respectively) and used medication periconceptionally (38% and 44% respectively) compared to control mothers (smoking:18%, medication use:19%). No interaction between maternal NAT2 acetylator status and smoking or medication use was observed for orofacial cleft and spina bifida risk. Conclusions Maternal smoking and medication use is associated with orofacial cleft risk as well as medication use is with spina bifida. The maternal NAT2 acetylator status, however, was not associated with an increased risk for orofacial cleft or spina bifida offspring, nor in combination with periconceptional smoking or medication use. Teratology 66:260,266, 2002. © 2002 Wiley-Liss, Inc. [source] | |||||||||||||