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PubMed1994

[Choice of free composite flap in the reconstruction of loss of substance in the mandible. Apropos of 28 cases].

The retrospective analysis of 56 mandibular defects, 28 of which were reconstructed by free revascularised bone flaps, and the difficulties of their reconstruction led the authors to propose a new anatomosurgical bony classification of mandibular defects. This classification, a theoretical transcription of traumatic and oncological realities, distinguishes more or less extensive anterior defects (Aa and Ab), lateral defects (La), lateroterminal defects (Lb) and defects exceeding the hemimandible (T). These bony imperatives, either alone or associated with skin lesions, depending on the traumatic or neoplastic aetiology, influence the indication for microsurgical reconstruction and the choice of particular bone and integument combined or composite flaps. The authors have deliberately adopted the option of one-stage multiple tissue reconstruction by the same composite flap and propose a justification for this microsurgical choice based on the proposed classification as well as the the theoretical and practical advantages and disadvantages of the various composite free revascularised bone flaps. Two donor sites appear to be particularly suitable: iliac and fibular.

Adult↗
PubMed2005

MRI morphology of the levator ani muscle, endopelvic fascia, and urethra in women with stress urinary incontinence.

OBJECTIVE: To evaluate pathomorphologic changes of the levator ani muscle, endopelvic fascia, and urethra in women with stress urinary incontinence (SUI) by MRI. STUDY DESIGN: Fifty-four women with SUI were examined by MRI (1.5T): body phased-array coil, axial and coronal proton-density-weighted sequences. RESULTS: The urethral sphincter muscle showed a reduced thickness of its posterior portion (37%), an omega shape (13%) or higher signal intensity (50%); its abnormal configuration was associated with an increased signal intensity in 70% (p=0.001). The levator ani muscle comprised an unilateral loss of substance in 30%, a higher signal intensity in 28%, and altered origin in 19%. Central defects of the endopelvic fascia were present in 39% (n=21), lateral defects in 46%. There was a significant association between loss of the symphyseal concavity of the anterior vaginal wall and lateral fascial defects (p=0.001) and levator ani changes (p=0.016). CONCLUSION: MRI yields findings supporting current theories on the pathogenesis of SUI.

Adult↗
PubMed2003

Split cord malformation and situs inversus totalis: case report and review of the literature.

INTRODUCTION: Situs inversus is a rare condition of visceral transposition in which the spinal axis is rarely affected. CASE REPORT: The authors report a patient with situs inversus totalis and type II split cord malformation. This patient had no complaints and presented with scoliosis. CONCLUSIONS: Recent compelling evidence from animal models and human case reports has led to hypotheses that defects of the midline and laterality defects (e.g., situs inversus) are etiologically related. Confirmation from additional case reports of situs inversus and split cord malformation could prove useful in determining a genetic locus for split cord malformations or implicating various chemical agents that are known to produce situs inversus as potential causative factors in the production of split cord malformations.

Child↗
PubMed2004

Split cord malformation and situs inversus totalis: case report and review of the literature.

INTRODUCTION: Situs inversus is a rare condition of visceral transposition in which the spinal axis is rarely affected. CASE REPORT: The authors report a patient with situs inversus totalis and Type II split cord malformation. The patient had no symptoms and presented with scoliosis. CONCLUSIONS: Recent compelling evidence from animal models and human case reports has lead to hypotheses that defects of the midline and laterality defects (e.g., situs inversus) are etiologically related. Confirmation from additional case reports of situs inversus and split cord malformation could prove useful in determining a genetic locus for split cord malformations or implicating various chemical agents that are known to produce situs inversus as potential causative factors in the production of split cord malformations.

Child↗
PubMed2000

Extracardiac anomalies in the heterotaxy syndromes with focus on anomalies of midline-associated structures.

The extracardiac defects in patients with heterotaxy have not been examined as extensively as cardiac defects. We found a high incidence of midline-associated defects in 160 autopsied cases of heterotaxy (asplenia, polysplenia, or single right-sided spleen). Fifty-two percent of patients with left-sided polysplenia had a midline-associated defect, as did 45% of those with asplenia. Most common were musculoskeletal or genitourinary anomalies, as well as cleft palate. Fused adrenal glands and anal stenosis or atresia occurred exclusively among patients with asplenia. A midline anomaly was twice as likely to be detected on complete autopsy than from clinical findings alone. Linkage studies should take into account that affected subjects may have isolated subclinical midline defects. The high incidence of midline-associated defects supports the theory that the midline plays a critical role in establishing left-right asymmetry in the body. Comparison of these defects with mouse models of laterality defects suggests that mutations that disrupt the transforming growth factor beta pathway may result in heterotaxy.

Abnormalities, Multiple↗
PubMed2006

Advancement flap for the reconstruction of nasal ala and lateral nasal tip defects.

Repair of nasal ala and lateral nasal tip defects provide unique reconstructive challenges. This article describes a one-staged advancement flap for repair of such defects. The flap may be medially-based, laterally-based, or bilaterally-based. Sharp undermining is recommended, and a standing cone must be removed superior to the defect, perpendicular to the alar rim. Temporary alar rim flattening is accepted, and normalizes with time. This reconstruction has provided excellent functional and cosmetic results for defects measuring <1 cm in diameter on the nasal ala and lateral nasal tip.

Esthetics↗
PubMed1999

Laterality patterns in infants with external birth defects.

The lateral distribution of external birth defects has not been reported in a comprehensive way, and patterns in this distribution have not been examined. This study presents the lateral distribution of 6,390 unilateral defects from among 102 defect categories in data collected by the Metropolitan Atlanta Congenital Defects Program. Among all defects, 49% (95% CI 48-51%) were right-sided. Among males and females, 51% (95% CI 50-53%) and 47% (95% CI 46-49%) of the defects, respectively, were right-sided. Of the 102 defect types, 57 had an excess of defects on the right side of the body; 39 had an excess of defects on the left side; and 6 were equally distributed. The excess on the right side was statistically significant for inguinal hernia, incarcerated inguinal hernia, microtia, preauricular sinus, talipes calcaneovalgus, and lambdoidal craniosynostosis. For the left side, the excess was statistically significant for preauricular tags, cleft lip, fused lip and cleft gum, cleft lip with cleft palate, congenital hip dysplasia, unstable hip, absent forearm or hand, anomaly of the knee, and skin tags. The percentage of right-sided defects among case subjects with unilateral defects was correlated with the percentage of males among all case subjects (r = 0.24, P < 0.05). Among male case subjects with unilateral defects, the correlation coefficient was 0.31 (P < 0. 01), and among females with unilateral defects, it was 0.11 (P > 0. 10). Differences in the lateral distribution of specific birth defects may be due to subtle differences in morphogenesis on the left and right sides of the embryo brought about by establishment of left-right asymmetry prior to organogenesis. The fact that more defect categories were right-sided than left-sided may be related to the observation that mitochondrial maturation in rat embryos is delayed on the right side. The right side, therefore, may be more susceptible than the left to defects caused by prenatal hypoxia. The significant correlation between the percentage right-sided and percentage male may then also be related to the observation that male sex hormones lower the mitochondrial respiration rate in rats and increase rat sensitivity to chemical hypoxia. Investigators should consider reporting the laterality of specific defects in both laboratory and epidemiological studies of birth defects. Right- and left-sided defects should perhaps be considered separately in etiologic studies of birth defects. Teratology 60:265-271, 1999. Published 1999 Wiley-Liss, Inc.

Animals↗
PubMed2003

Oblique advancement flap for defects of the lateral nasal supratip.

BACKGROUND: Reconstruction of nasal alar defects is difficult because of the complex anatomy of the region. A frequent challenge in this area is repair of small cutaneous defects involving the lateral nasal supratip and the superior alar groove. OBSERVATIONS: An oblique advancement flap that uses laxity from the nasal sidewall is described. Its benefits and limitations are compared with those of alternative closures. Overall, the oblique advancement flap preserves the superior alar groove, while minimizing tissue contortion. It is technically similar to a primary closure but functionally and aesthetically superior. CONCLUSIONS: For selected small lateral nasal supratip defects impinging on the superior alar groove, the oblique advancement flap offers a simple, visually pleasing repair that preserves the alar architecture.

Humans↗
PubMed2003

Patterns of recurrence of congenital heart disease: an analysis of 6,640 consecutive pregnancies evaluated by detailed fetal echocardiography.

OBJECTIVES: We sought to investigate the pattern of recurrence of congenital heart disease (CHD) where there is one or more affected first-degree relative. BACKGROUND: There are little data on patterns of recurrence of different types of CHD. Analysis of a fetal series allows a high ascertainment of affected cases. METHODS: We performed an analysis of referrals for detailed fetal echocardiography to a tertiary fetal cardiology unit, where there was a first-degree family history of CHD from 1990 to the end of 1999. Data were entered prospectively on a computerized database. Recurrences were exactly concordant if CHD was identical to the index case, and concordant for the group if belonging to a similar group of CHD. RESULTS: A recurrence of CHD was seen in 178 (2.7%) of 6,640 pregnancies. The referral numbers for sibling, maternal, or paternal CHD cases were 5,151, 1,119, and 370, respectively. Exact concordance was seen in 37% of cases (range 0% to 80%), and group concordance was seen in 44%. In families where there were two or more recurrences, the exact concordance rate was 55%. Exact concordance rates were particularly high for isolated atrioventricular septal defects (4 of 5 [80%]) and laterality defects (7 of 11 [64%]). CONCLUSIONS: The concordance rates of different types of CHD vary widely. Accurate diagnosis of the index case is essential for reliable counseling on patterns of recurrence. Minor CHD in the index case does not exclude more severe disease in recurrences. There appears to be significant under-referral for fetal echocardiography in paternal CHD.

Echocardiography↗
PubMed2006

Localization of candidate regions for a novel gene for Kartagener syndrome.

Asymmetric positioning of internal organs is a characteristics of vertebrates. The normal left-right anatomic positioning, situs solitus, sometimes does not occur normaly, leading to laterality defects. Studies in animal models have shown that laterality decisions are mediated by a cascade of genes that lead to the asymmetric expression of Nodal, LEFTA, LEFTB and PITX2 in the lateral plate mesoderm. A search for mutations in genes implicated in left-right patterning in animal models allowed genes associated with heterotaxia defects in humans to be identified. However, these genes explain only a small percentage of human situs defects, suggesting that other genes must play a role. In this study, we report a consanguineous family of Turkish origin, composed of two unaffected parents and three children, two of whom presented Kartagener syndrome. On the basis of their family history, we hypothesize autosomal recessive mode of inheritance. A genotype analysis with polymorphic markers did not show linkage with any known genes or loci causing laterality disorders. Array CGH did not detect a duplication or microdeletion greater than 1 Mb as a possible cause. Genome wide screening using 10 K Affymetrix SNP chips was performed, allowing the identification of two regions of autozygosity, one in chromosome 1 and the other on chromosome 7. In the chromosome 1 locus, a strong candidate gene, encoding the kinesin-associated protein 3 (KIF3AP) was not mutated, based on SSCP/heteroduplex analysis and direct sequencing. These data provide a basis for the identification of a novel gene implicated in Kartagener syndrome.

5' Untranslated Regions↗
PubMed2005

[Transobturator correction of cystocele].

OBJECTIVE: We present our initial experience with the Perigee system for anterior vaginal wall prolapses repair. MATERIAL AND METHOD: 15 patients with anterior vaginal wall prolapse (mean age: 62 years old) underwent implanted with Perigee system which is composed by a mesh for correcting central defect and four self-attached horns for correcting lateral defect. The implanted procedure consist of four steps: 1) lateral vaginal wall dissection as far as isquiopubic branch; 2) performance of two upper marks at genitofemoral fold and two lower marks at 2 cm laterally and 3 cm lower; 3) insertion of the upper needles parallel to the isquiopubic branch and connection with the mesh's "arms" plus insertion of the lower needles vertically and connection with mesh's "legs"; 4) to adjust the mesh free tension. The system POP-Q was used as an objective measure of correction rate. RESULTS: Preoperatively, the point Aa was 0.09. After 6 weeks and three months postoperatively was -3.00 and -2.73 respectively. Preoperatively, the point Ba was 1.73. After 6 weeks and three months postoperatively was -2.82 and -2.82 respectively. No major complications were presented. No vascular damage or significant bleeding was observed. CONCLUSION: The transobturator correction of cystocele is an attractive alternative. The initial good outcome may be expected to be long lasting.

Adult↗
PubMed1993

Indications for the AO plate with a myocutaneous flap instead of revascularized tissue transfer for mandibular reconstruction.

Our preferred technique for mandibular reconstruction uses a revascularized osseomyocutaneous flap. However, to reconstruct small lateral defects in dentulous patients, the AO mandibular reconstruction plate (MRP) is used. Its advantages include quick, reliable placement without a donor site or the need for advanced technical training. This review examines 16 patients who underwent primary mandibular reconstruction after ablative oncologic surgery using an AO MRP without a bone graft. The average follow-up was 32 months. Twelve patients (75%) had successful reconstructions, while 4 (25%) developed serious complications resulting in failure of the MRP. The most significant factor limiting rehabilitation was disease progression, affecting 12 (75%) of the 16 patients. In this subgroup of selected patients with small (< 6 cm) lateral mandibular defects, useful dentition, and advanced disease, or whose general medical condition precludes prolonged general anesthesia, primary mandibular reconstruction using an AO MRP and a myocutaneous flap without a bone graft is a viable reconstructive alternative.

Adult↗
PubMed2005

Cited2 is required both for heart morphogenesis and establishment of the left-right axis in mouse development.

Establishment of the left-right axis is a fundamental process of vertebrate embryogenesis. Failure to develop left-right asymmetry leads to incorrect positioning and morphogenesis of numerous internal organs, and is proposed to underlie the etiology of several common cardiac malformations. The transcriptional modulator Cited2 is essential for embryonic development: Cited2-null embryos die during gestation with profound developmental abnormalities, including cardiac malformations, exencephaly and adrenal agenesis. Cited2 is also required for normal establishment of the left-right axis; we demonstrate that abnormal heart looping and right atrial and pulmonary isomerism are consistent features of the left-right-patterning defect. We show by gene expression analysis that Cited2 acts upstream of Nodal, Lefty2 and Pitx2 in the lateral mesoderm, and of Lefty1 in the presumptive floor plate. Although abnormal left-right patterning has a major impact on the cardiac phenotype in Cited2-null embryos, laterality defects are only observed in a proportion of these embryos. We have therefore used a combination of high-resolution imaging and three-dimensional (3D) modeling to systematically document the full spectrum of Cited2-associated cardiac defects. Previous studies have focused on the role of Cited2 in cardiac neural crest cell development, as Cited2 can bind the transcription factor Tfap2, and thus affect the expression of Erbb3 in neural crest cells. However, we have identified Cited2-associated cardiac defects that cannot be explained by laterality or neural crest abnormalities. In particular, muscular ventricular septal defects and reduced cell density in the atrioventricular (AV) endocardial cushions are evident in Cited2-null embryos. As we found that Cited2 expression tightly correlated with these sites, we believe that Cited2 plays a direct role in development of the AV canal and cardiac septa. We therefore propose that, in addition to the previously described reduction of cardiac neural crest cells, two other distinct mechanisms contribute to the spectrum of complex cardiac defects in Cited2-null mice; disruption of normal left-right patterning and direct loss of Cited2 expression in cardiac tissues.

Animals↗
PubMed2001

Chemokine receptor 2 serves an early and essential role in resistance to Mycobacterium tuberculosis.

Although the protective cellular immune response to Mycobacterium tuberculosis requires recruitment of macrophages and T lymphocytes to the site of infection, the signals that regulate this trafficking have not been defined. We investigated the role of C-C chemokine receptor 2 (CCR2)-dependent cell recruitment in the protective response to M. tuberculosis. CCR2(-/-) mice died early after infection and had 100-fold more bacteria in their lungs than did CCR2(+/+) mice. CCR2(-/-) mice exhibited an early defect in macrophage recruitment to the lung and a later defect in recruitment of dendritic cells and T cells to the lung. CCR2(-/-) mice also had fewer macrophages and dendritic cells recruited to the mediastinal lymph node (MLN) after infection. T cell migration through the MLN was similar in CCR2(-/-) and CCR2(+/+) mice. However, T cell priming was delayed in the MLNs of the CCR2(-/-) mice, and fewer CD4(+) and CD8(+) T cells primed to produce IFN-gamma accumulated in the lungs of the CCR2(-/-) mice. These data demonstrate that cellular responses mediated by activation of CCR2 are essential in the initial immune response and control of infection with M. tuberculosis.

Animals↗
PubMed1995

The free flap and plate in oromandibular reconstruction: long-term review and indications.

The purpose of this study was to define the role of reconstruction plates as bone replacement in oromandibular reconstruction. From 1987 through 1991, 71 consecutive oral cancer patients underwent composite resection and reconstruction and were entered into one of two studies. In the first study of 31 patients, 15 underwent oromandibular reconstruction using a radial forearm osteocutaneous flap, while the remainder (16) received a radial forearm fasciocutaneous flap together with a mandibular reconstruction plate. The second study involved 40 subsequent patients, all receiving the latter form of reconstruction. Twenty-one of the plates were stainless steel, and the remaining 19 were of the titanium hollow screw (THORP) type. We followed the patients prospectively. We defined success as a reconstruction that we did not have to remove. Additionally, since the patients had limited life expectancy, we developed the idea of days of life lost and incorporated it into our definition of a successful outcome. Vascularized autogenous bone proved to be more successful than metallic plates used alone in terms both of reconstruction survival and of minimizing days of life lost. The overall success rate of mandibular plate reconstruction was 78.9 percent, but analysis by defect type revealed a failure rate of 35 percent when the defects were anterior and only 5 percent when they were lateral. THORP plates demonstrated a trend towards more durability. We would now recommend plate reconstruction only in lateral defects in patients with a poor prognosis.

Bone Plates↗
PubMed1988

[A method for covering defects of the lip].

Numerous methods have been described to reconstruct lower lip defects. A further method is presented which is suitable for lateral defects of the lower lip and employs a transposition flap similar to Goldstein's method.

Humans↗
PubMed1997

Oromandibular reconstruction with the fibular free flap. Analysis of 50 consecutive flaps.

OBJECTIVE: To evaluate the results and functional outcome associated with fibular free flap reconstruction of orofacial and mandibular defects. DESIGN: We conducted a retrospective analysis of 50 consecutive fibular free flaps during a 3-year period. Forty patients were available for follow-up, which ranged from 4 to 39 months. SETTING: Academic tertiary care referral medical center. PATIENTS: Fifty consecutive mandibular reconstructions using the fibular free flap were performed on 47 patients. Thirty-five patients (74%) underwent primary reconstruction. Sixty-six percent of the mandibular defects were anterior or combined anterolateral types; the remainder were pure lateral defects. In 38 patients (81%), a skin paddle was included with the flap to provide either a mucosal lining or skin cover, whereas in only 9 patients (19%), bone was used alone. MAIN OUTCOME MEASURES: Factors reflecting functional properties and processes as well as complications of the upper aerodigestive tract were evaluated clinically and radiographically. RESULTS: Four flaps required reexploration as emergencies, and none were successfully salvaged (8.5% failure). Three patients underwent further free vascularized fibula transfer with 1 failure. During follow-up, swallowing was normal in 25 patients (64%), oral continence was normal or almost normal in 26 patients (67%), and speech was normal or easily intelligible in 35 patients (90%). Aesthetic results were excellent or acceptable in 37 patients (95%). CONCLUSIONS: Our results reveal that the vascularized fibular free flap is very suitable with an excellent success rate for reconstructing both the composite or simple long-spanned mandibular defect. The overlying skin island is reliable and provides lining or coverage for intraoral and extraoral defects. Superior functional cosmetic results are expected in the majority of patients, while donor site morbidity is minimal.

Adult↗
PubMed2001

[Contribution of MRI in diagnosis of urinary stress incontinence without concomitant urogenital prolapse].

PURPOSE: To detect pathomorphological changes of the pelvic floor, the vagina, and the urethra by MR imaging in patients with stress urinary incontinence in the absence of organ descent compared with findings in 10 healthy controls. MATERIALS AND METHODS: The study included 10 healthy controls and 38 patients with stage II urinary incontinence showing no urge symptoms but a pathological stress profile on urodynamic testing. The subjects underwent MR imaging with a phased-array coil at 1.5 T in addition to urodynamic testing and gynecological examination. The following sequences were used: axial and coronal PD-weighted TSE sequences with a FOV of 20 cm and a section thickness of 4 mm; axial STIR sequence. Sagittal T2-weighted HASTE sequences were acquired during pelvic floor contraction, relaxation, and straining maneuvers. RESULTS: In 22/38 cases pathomorphological changes were found by MR imaging. The pathomorphological changes were classified as lateral defects (n = 14) if the musculofascial connection between the levator muscle and the lateral vaginal wall or the butterfly shape of the vagina was absent and as central (n = 16) if changes were detected in the urethral wall. Defects of the pelvic floor muscles were detected in 8 cases. No underlying changes were identified in 16/38 cases. CONCLUSION: In cases of female urinary incontinence, MR imaging of the pelvic floor can detect pathomorphological changes, which are difficult to identify by clinical examination. MR imaging currently does not allow the detection of morphological changes in all forms of female urinary stress incontinence.

Adult↗