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PubMed1991

[Color vision defects of macular diseases].

Patients with macular diseases such as x-linked juvenile retinoschisis, cone dystrophy, and age-related macular degeneration were studied regarding color vision defects. In 9 of 15 eyes of patients with x-linked juvenile retinoschisis, blue-yellow defects were demonstrated. In the older patients with this dystrophy, color vision defects were more severe than in younger ones. Fluorescein angiography revealed retinal pigment epithelium (RPE) atrophy at the macular area in these older patients. Therefore, it was suggested that the color vision defects were due to dysfunction of the outer sensory retina, occurring secondarily to the inner sensory retina. In patients with cone dystrophy, all the examined eyes showed severe color vision defects. It was proved that the size of the atrophic lesion which when ophthalmoscopically evaluated was found to have some relationship with the degree of color vision defects. In patients with age-related macular degeneration, most of the examined eyes showed color vision defects. Moreover eyes with soft drusen formation and/or RPE detachment usually showed more severe color vision defects than the eyes with hard drusen formation and/or RPE atrophy.

Adolescent↗
PubMed1990

[Interventricular muscular defect in the atrioventricular canal].

The muscular ventricular septal defect associated with the atrioventricular canal is a malformation which has not yet been extensively studied. Between June 1982 and December 1989, 151 patients with atrioventricular canal underwent echocardiography and angiocardiography in our Department. Of these 95 (62.9%) had a complete form and 56 (37.1%) a partial. Among the 151 patients, 81 (53.6%) presented Down syndrome. We found 5 muscular ventricular septal defects in 4 patients; in 3 cases there was a single defect and in one case two defects. These defects were midmuscular in all patients and one patient also presented an apical defect. All 4 patients with muscular ventricular septal defect presented a complete atrioventricular canal and aortic coarctation; 3 out of 4 patients had a hypoplastic left ventricle with absence of Down syndrome. The muscular ventricular septal defect is a malformation which is rarely associated with atrioventricular canal (4/151 = 2.6%). In our experience, it was always associated with a complete form with aortic coarctation and was very rare in Down syndrome patients (1/81 = 1.2%). These findings may represent a peculiar association of anomalies which may be caused by fetal hemodynamic mechanisms.

Abnormalities, Multiple↗
PubMed1982

Etiologic heterogeneity of neural tube defects. II. Clues from family studies.

We previously reported that among neural tube defects (NTDs) with no known causes the ones that occur alone (singles) have different epidemiologic characteristics from those that occur in combination with other defects (multiples), suggesting an underlying causal heterogeneity. In this study, we compared family histories of 223 single NTD cases and 66 multiple cases ascertained through the Metropolitan Atlanta Congenital Defects Program (MACDP) between 1970 and 1979. Compared with siblings of multiples, siblings of singles had a higher precurrence rate for NTDs (2.0% vs. 0.0%) and for birth defects in general (10.9% vs. 3.0%). Furthermore, siblings of singles that were born within 2 years before the birth of the index case had a higher precurrence rate for NTDs (8.0% vs. 1.1%) and for major birth defects (20.0% vs. 2.9%) than had those born earlier. These results further suggest that NTDs are etiologically heterogeneous, depending on the presence of associated defects, and point to important environmental influences in the increased risk for birth defects among siblings of singles. Larger studies are needed to confirm these data and show that single and multiple NTDs have different recurrence rates, not only for NTDs but also for other birth defects.

Adult↗
PubMed1994

Aortopulmonary septal defects. A review of the literature and report of ten cases.

From 1981 to 1992, 10 infants with aortopulmonary septal defect (APSD) underwent surgical repair. The mean age at operation was 5.6 +/- 5.5 months, and the mean weight 4.6 +/- 2 kg. Intracardiac associated anomalies were as follows: ventricular septal defects (7 cases), tetralogy of Fallot (2 cases), aortic valve stenosis (2 cases), atrial septal defect (3 cases), patent ductus arteriosus (3 cases), pulmonary valve stenosis (1 case). Cardiac catheterization was performed in 8 out of 10 patients. Eight patients had type I (proximal) defect, 1 had type II (distal) defect and 1 had type III (absent aortopulmonary septation) defect. A variety of surgical procedure was employed. APSD closure with hemoclip was feasible in 3 cases with small window. In 6 patients, during a period of cardiopulmonary by-pass, a side biting clamp was positioned on the ascending aorta close the defect; the border of the window was divided leaving a flap of pulmonary wall on the left side to close the aortic defect; the pulmonary artery was repaired by an autologous pericardial patch. In the patient with type III APSD, aortopulmonary septation was carried out through a transwindow approach. Associated anomalies were repaired in all infants except one. Hospital mortality was 10% (1 case). No late deaths occurred. At a mean follow-up of 47 +/- 35 months 8 patients are asymptomatic and 1 is awaiting for repair of associated anomalies. Conclusions. APSD is a rare but nonetheless well identifiable anomaly. Surgery is indicated as soon as the diagnosis is established, regardless of the patient's age.(ABSTRACT TRUNCATED AT 250 WORDS)

Age Factors↗
PubMedDate not supplied

[Diagnosis of sinus venosus atrial septal defect by transesophageal color Doppler and two-dimensional echocardiography].

Diagnosis of sinus venosus atrial septal defect based on transthoracic color Doppler and two-dimensional echocardiography is often difficult. We recently experienced two cases of sinus venosus atrial septal defect which were correctly diagnosed using transesophageal color Doppler and two-dimensional echocardiography. Transthoracic color Doppler flow imaging did not demonstrate the atrial septal defect or the shunt flow across the defect in either case. Transesophageal two-dimensional echocardiography visualized a defect in the upper most portion of the interatrial septum in one case, and transesophageal color Doppler flow mapping detected a left-to-right shunt across the defect in both cases. Transesophageal color Doppler flow mapping also demonstrated the flow signal of the right upper pulmonary vein into the right atrium near its junction with the superior vena cava in each case. The diagnoses of sinus venosus atrial septal defect and combined partial anomalous pulmonary venous return were confirmed by surgery in both cases. Transesophageal color Doppler and two-dimensional echocardiography are very useful in diagnosing sinus venosus atrial septal defect and combined partial anomalous pulmonary venous return.

Adolescent↗
PubMed1996

Outcome of patients with ectopia cordis and significant intracardiac defects.

BACKGROUND: Previous reports suggest a poor prognosis for patients with ectopia cordis and significant congenital heart disease. METHODS AND RESULTS: To determine the outcome of affected patients in a recent medical and surgical era, we reviewed the clinical course, echocardiograms, catheterization data, and operative reports of all patients with ectopia cordis and significant heart disease encountered at Children's Hospital from 1982 to the present. We identified 13 patients with conotruncal defects and either thoracic (TEC, n = 4) or thoracoabdominal (TAEC, n = 9) ectopia cordis. Diagnosis was established in utero in 6, with termination of pregnancy in 2 and death before transfer to Children's Hospital in 1. Of 10 patients postnatally managed at Children's Hospital, 4 of 8 with TAEC and 1 of 2 with TEC survived beyond infancy, with an age at most recent follow-up of 3.5 to 9.8 years. All 5 survivors had procedures as neonates to provide skin coverage over the midline defect and heart, with concomitant repair of a small omphalocele in 4. Three underwent successful surgical repair of the cardiac defect, including ventricular septal defect closure for double-outlet right ventricle (9 months), repair of tetralogy of Fallot with pulmonary atresia (2.6 years), and repair of double-outlet right ventricle, pulmonary stenosis, and total anomalous pulmonary venous connection to the coronary sinus (3.3 years). Two other patients with TAEC, conoventricular defects, and hypoplastic left ventricle underwent single-ventricle palliation. One patient, at 4 years of age underwent a right cavopulmonary anastomosis and intra-atrial coronary sinus-to-right superior vena cava baffle. The second patient had a modified Fontan procedure. None of the 5 survivors had significant extrathoracic defects, whereas all 3 who died by 3 weeks of age had both a large omphalocele and pulmonary hypoplasia. Two infants with pentalogy of Cantrell, 1 with a large omphalocele, died of fungal sepsis by 5 weeks of age, and 1 other died intraoperatively after repair of pulmonary venous confluence obstruction and right Blalock-Taussig shunt placement. CONCLUSIONS: Our experience indicates that patients with TEC and TAEC and significant intracardiac defects, in the absence of significant extracardiac defects, can survive beyond early infancy and undergo successful cardiac repair or more definitive palliation for single-ventricle physiology.

Child↗
PubMed1998

[Correction of cardiac defects through a right minithoracotomy in children].

OBJECTIVE: To review the experience of correction of congenital cardiac defects through a right minithoracotomy. METHOD: 319 patients underwent correction of congenital heart malformations through right lateral thoracotomy under cardiopulmonary bypass. The average age was 3.44 +/- 1.59 years (range, 5 months-8 years). The average body weight was 13.66 - 3.98 kg (range, 6 - 26 kg). Cardiac defects repaired included atrial septal defect in 87 patients (1 patient associated with left superior vena cava (LSVC), 6 pulmonary stenosis, 5 partial anomalous pulmonary venous connection), ventricular septal defect in 200 (7 patients with coexisting patent ductus arteriosus, 7 mitral insufficiency, 3 LSVC, 11 right ventricular outflow tract obstruction), Fallot's Tetralogy in 19 (3 patients associated with LSVC, 1 single coronary malformation), partial endocardial cushion defect in 2 and other defects in 11. The mean cardiopulmonary bypass time was 56.07 +/- 24.90 min (range, 20 - 176 min) and the mean aortic crossclamping time was 32.97 +/- 20.38 min (range, 6 - 140 min). The average mechanical ventilation time after operation was 18.75 +/- 24.57 hr (range, 2 - 140.72 hr), and the mean postoperative hospital stay was 7.08 +/- 0.69 days (range, 7 - 17 days). RESULT: No operative mortality and severe postoperative complications were noted. CONCLUSION: The right lateral thoracotomy is a safe and effective alternative to a median sternotomy for correction of cardiac defects. Advantages of this approach include less injury, maintaining the continuity and the integrity of the bony thorax, and preventing postoperative pigeon breast. The cosmetic result is superior to that of median sternotomy or bilateral submammary incision.

Cardiopulmonary Bypass↗
PubMed2006

Natural history of knee cartilage defects and factors affecting change.

BACKGROUND: Knee cartilage defects may play an important role in early osteoarthritis, but little is known about their natural history. METHODS: Knee cartilage defect score (range, 0-4), cartilage volume, and bone surface area were determined using T1-weighted fat-saturated magnetic resonance imaging in 325 subjects (mean age, 45 years) at baseline and 2 years later. RESULTS: Thirty-three percent of the subjects had a worsening (>or=1-point increase) and 37% of the subjects had an improvement (>or=1-point decrease) in cartilage defect score in any knee compartment during 2.3 years. A worsening in cartilage defect score was significantly associated with female sex (odds ratio [OR], 3.09 and 3.64 in the medial and lateral tibiofemoral compartments) and baseline factors, including age (OR, 1.05 per year in the medial tibiofemoral compartment), body mass index (OR, 1.08 in the lateral tibiofemoral compartment), tibiofemoral osteophytes (OR, 6.22 and 6.04 per grade), tibial bone area (OR, 1.24 and 2.07 per square centimeter), and cartilage volume (OR, 2.91 and 1.71 per milliliter in the medial tibiofemoral and patellar compartments). An improvement in cartilage defect score had similar but reversed associations with these factors (except for sex), including a decrease in body mass index (OR, 1.23 in the medial tibiofemoral compartment). CONCLUSIONS: Knee cartilage defects are variable, and changes are associated with female sex, age, and body mass index. Increases are associated with baseline cartilage volume, bone size, and osteophytes, suggesting a role for these in the pathogenesis of cartilage defects. Interventions such as weight loss may improve knee cartilage defects.

Adult↗
PubMed1998

A nasal critical-size defect: an experimental model for the evaluation of facial osseous repair techniques.

OBJECTIVE: To create a standardized nonhealing defect of craniofacial, minimal load-bearing, endochondral type bone with geometric properties that are amenable to quantitative and biomechanical testing that can be used to develop new osteoconductive and osteoinductive engineering repair techniques. DESIGN: Before-and-after randomized trial of an anatomical description. SUBJECTS: Twenty-four retired male breeder Sprague-Dawley rats. METHODS: A standardized osseous defect was created by removing the nasal bones with a cutting burr to the level of the nasal mucosal membranes. The defects were not repaired, and groups of 8 animals were examined using planimetry, computed tomographic scanning, and histological analysis at 1, 3, and 6 months following surgery to quantify defect repair. RESULTS: Mean repair rate by surface area measurements at 1, 3, and 6 months was 5.75%, 4.89%, and 7.09%, respectively. Results from histological analysis revealed that the defects were filled with fibrous tissue. Computed tomographic scans showed the bone defect without repair. CONCLUSION: This nasal osseous defect fulfills criteria to be considered as a critical-size defect that can be used to investigate new techniques for bone reconstruction.

Animals↗
PubMed2004

The association between late-onset fecal incontinence and obstetric anal sphincter defects.

HYPOTHESIS: Endoanal ultrasonographic results have demonstrated that clinically occult anal sphincter damage during vaginal delivery is common. This may or may not be associated with postpartum fecal incontinence (FI). Bayesian meta-analysis of the literature revealed that at least two thirds of obstetric sphincter disruptions are asymptomatic in the postpartum period. Women with postpartum asymptomatic sphincter damage may be at increased risk for FI with aging compared with those without sphincter injury. DESIGN: Case series. SETTING: Tertiary referral center. PATIENTS: After excluding patients with other possible causes of FI, the histories of 124 consecutive women with late-onset FI after vaginal delivery were analyzed. MAIN OUTCOME MEASURES: Endoanal ultrasonographic findings, pudendal nerve terminal motor latency assessment, and anal manometric results. RESULTS: Eighty-eight women (71%) with a median of 3 vaginal deliveries had sphincter defects on endoanal ultrasonographic results. The mean incontinence score, squeeze and resting pressures, median age at last delivery, and median duration of FI were not significantly different between patients with and without sphincter defects. Pudendal neuropathy was more frequent in patients without sphincter defects (10 [30.3%], left side; 12 [36.4%], right side) than in patients with sphincter defects (12 [14.3%] and 16 [19.3%], respectively), with the difference nearly reaching statistical significance (P =.054 and P =.059, respectively). The median age at onset of FI in patients with a sphincter defect was 61.5 years vs 68.0 years in those without a sphincter defect, which was not statistically significant (P =.08). CONCLUSION: Analysis of the current patient population revealed that 88 women (71%) with late-onset FI after vaginal delivery had an anatomical sphincter defect. Thus, FI related to anal sphincter defects is likely to occur even in an elderly population who had experienced vaginal deliveries earlier in life.

Aged↗
PubMed1999

Combining mutations in the incoming and outgoing pheromone signal pathways causes a synergistic mating defect in Saccharomyces cerevisiae.

Mating pheromones stimulate Saccharomyces cerevisiae yeast cells to form a pointed projection that becomes the site of cell fusion during conjugation. To investigate the role of mating projections, we screened for mutations that enhanced the weak mating defect of MATa ste2-T326 cells that are defective in forming pointed projections. These cells are also 10-fold more sensitive to alpha-factor pheromone because ste2-T326 encodes truncated alpha-factor receptors that are not regulated properly. Mutations in AXL1, STE6 and FUS3 were identified in the screen. AXL1 was studied further because it is required for efficient a-factor pheromone production and for selecting the site for bud morphogenesis. Mutation of AXL1 did not enhance the morphogenesis or pheromone sensitivity defects of ste2-T326. Instead, the synergistic mating defect was apparently due to decreased a-factor production because the axl1Delta ste2-T326 cells mated well with a sst2 alpha mating partner that is supersensitive to a-factor. When combined with a wild-type mating partner, the ste2-T326 axl1Delta cells failed to mate because they did not lock cell walls, one of the earliest steps in conjugation. Analysis of axl1Delta in combination with other mutations that cause defects in morphogenesis or pheromone sensitivity (e.g. bar1, sst2, afr1) indicated that both phenotypes of ste2-T326 cells, supersensitivity to alpha-factor and the defect in forming pointed projections, contributed to the synergistic mating defect. We suggest a model that the synergistic mating defect is caused by the combined effects of ste2-T326 and axl1Delta on the presentation of a-factor to partner cells. Altogether, these results demonstrate an important linkage between the incoming and outgoing pheromone signals during the intercellular communication that promotes yeast mating.

Cell Cycle↗
PubMed2000

Sensitivity to DNA cross-linking chemotherapeutic agents in mismatch repair-defective cells in vitro and in xenografts.

Together with tolerance to killing induced by methylating agents, loss of mismatch repair (MMR) has previously been found to be associated with hypersensitivity to the DNAcross-linking agent 1-(2-chloroethyl)-3-cyclohexyl-nitrosourea(CCNU) in several human tumor cell lines (Aquilina et al., 1998). Here, we have investigated whether MMR might act as an efficient repair pathway and provide protection against the clastogenicity induced by CCNU and whether the hypersensitivity of MMR-defective cells is extended to other cross-linking agents. An increase in cell killing and in the frequency of micronuclei was observed after CCNU exposure in 2 hPMS2-defective clones (clones 6 and 7) compared with the parental HeLa cells. Introduction of a wild-type copy of chromosome 7 in clone 7 led to re-expression of the hPMS2 protein and brought survival and chromosomal damage upon CCNU exposure to parental levels. Our data indicate that MMR protects against the clastogenic damage induced by this drug. The hPMS2-defective HeLa cells were also hypersensitive to killing by mitomycin C. Mitomycin C sensitivity was confirmed in an hMLH1-defective clone derived from Raji cells and in msh2-defective mouse embryo fibroblasts derived from knock-out mice. hPMS2-defective and parental HeLa cells were transplanted into nude mice, and the animals were treated with mitomycin C. While parental cell growth rate was unaffected, the growth of MMR-defective tumor was significantly reduced. Our results indicate that the in vitro hypersensitivity to mitomycin C conferred by loss of MMR is paralleled in vivo and may have implications for the chemotherapy of MMR-defective tumors.

Adenosine Triphosphatases↗
PubMed1999

Bone defect healing enhanced by ultrasound stimulation: an in vitro tissue culture model.

Ultrasound has many medical applications. Previous animal and clinical studies have clearly shown a positive effect of ultrasound on the rate of osseous repair. The present in vitro study was designed to elucidate the specific response of bony tissue to ultrasound treatment. Bilateral femora were obtained from 36 mature male Wistar rats. A bone defect was created at the center of each distal metaphysis. The femora were maintained for either 7 or 14 days in in vitro tissue culture and received 15 min of ultrasound stimulation or a sham exposure. The ultrasound intensity used was either 320 or 770 mW/cm2. Healing of the bone defect was evaluated by histomorphological examination and by analysis for the synthesis and secretion of prostaglandin E2. The results showed that ultrasound stimulation can accelerate both defect healing and trabecular bone regeneration. All experimental femoral defects treated with ultrasound healed faster than the untreated cortical defects, but only the defects receiving 770 mW/cm2 reached a level that was significantly different. The healing rate for the 320-mW/cm2 stimulated defects was intermediate between that of the 770-mW/cm2 and sham-exposed defects. With ultrasound stimulation, prostaglandin E2 secretion by the experimental femora decreased significantly. Changes in the prostaglandin synthesis and concentration were found to correspond to changes in the amount of trabecular regeneration and to acceleration of bone healing. This highly controlled and well-studied model of ultrasound stimulation of bone healing in vitro can be used to further examine the biological mechanisms involved.

Animals↗
PubMed2003

Estimating prevalence of fetal alcohol syndrome (FAS): effectiveness of a passive birth defects registry system.

BACKGROUND: Fetal alcohol syndrome (FAS) is a preventable birth defect, easiest to recognize in children two through eleven years and more difficult to recognize in newborns. In New York State, two systems ascertain FAS cases, the statewide birth defects registry and the Fetal Alcohol Syndrome Surveillance Network (FASSNet) system. The accuracy of FAS reports to the birth defects registry was assessed through a comparison with the FASSNet system. METHODS: The birth defects registry mandates reporting up to age two, including FAS with an ICD-9 code of 760.71. FASSNet is a population-based, multi-source surveillance and uses a standard definition to determine FAS case status. RESULTS: Among 33 children reported to the registry with FAS, 19 (58%) met FASSNet criteria for FAS. FASSNet identified 24 additional children with FAS facial features documented before the child's second birthday that should have been reported to the birth defects registry. FAS prevalence rate for the birth defects registry was 0.28 per 1,000 live births but would have been 0.37 if all children diagnosed before age two were included. CONCLUSIONS: Almost 60% of children reported to a birth defects registry with FAS from 1995 to 1998 were confirmed as FAS based on a more intensive surveillance. Additional children with FAS were not reported to the CMR. FAS prevalence calculated from birth defects registries, relying on the ICD-9 code 760.71, include false positives and underestimate the true prevalence. Age limits for reporting FAS to registries further contribute to under ascertainment.

Abnormalities, Drug-Induced↗
PubMed2003

Registry to referral: using birth defects registries to refer infants and toddlers for early intervention services.

BACKGROUND: Although many birth defect surveillance systems were developed for the primary purpose of monitoring trends and conducting epidemiologic studies, a number of programs have recognized the potential of birth defects monitoring systems for identifying and referring children who may be eligible for services. Because almost all surveillance programs maintain a registry of all children who have been diagnosed with birth defects in a particular state or other defined geographic region, registries can play an important role in identifying eligible children and providing timely referral to specialized services. METHODS: We sent electronically an 18-question survey to the Centers for Disease Control and Prevention's list of State Birth Defects Surveillance Contacts in all 50 states, the District of Columbia, and Puerto Rico. The survey queried states as to whether they had or were developing a birth defect surveillance program, the extent to which they were currently using or were considering using their program as a means of identifying and referring children for services, and if so, the manner in which referrals were made. RESULTS: We received completed surveys from all 50 states, Washington, DC, and Puerto Rico. Thirty-two of the fifty-two respondents stated that their state or entity has an operational birth defect surveillance program. Of these, 13 have implemented an identification and referral system within the surveillance program. All 16 states that were planning a surveillance program are also are planning or beginning to implement a program that would include an identification and referral system. Respondents cited lack of resources and confidentiality concerns as being the major barriers to implementing a referral system for their registry. CONCLUSIONS: For many registries, using their surveillance data for program development purposes represents a new undertaking. This trend reflects increasing recognition of the role that state-based birth defect surveillance systems can play in supporting child-find efforts for children with special needs. In the long run, this expanded focus may further enhance the public health usefulness of birth defect surveillance programs.

Child, Preschool↗
PubMed2006

National estimates and race/ethnic-specific variation of selected birth defects in the United States, 1999-2001.

BACKGROUND: In the United States, birth defects affect approximately 3% of all births, are a leading cause of infant mortality, and contribute substantially to childhood morbidity. METHODS: Population-based data from the National Birth Defects Prevention Network were combined to estimate the prevalence of 21 selected defects for 1999-2001, stratified by surveillance system type. National prevalence was estimated for each defect by pooling data from 11 states with active case-finding, and adjusting for the racial/ethnic distribution of US live births. We also assessed racial/ethnic variation of the selected birth defects. RESULTS: National birth defect prevalence estimates ranged from 0.82 per 10,000 live births for truncus arteriosus to 13.65 per 10,000 live births for Down syndrome. Compared with infants of non-Hispanic (NH) white mothers, infants of NH black mothers had a significantly higher birth prevalence of tetralogy of Fallot, lower limb reduction defects, and trisomy 18, and a significantly lower birth prevalence of cleft palate, cleft lip with or without cleft palate, esophageal atresia/tracheoesophageal fistula, gastroschisis, and Down syndrome. Infants of Hispanic mothers, compared with infants of NH white mothers, had a significantly higher birth prevalence of anencephalus, spina bifida, encephalocele, gastroschisis, and Down syndrome, and a significantly lower birth prevalence of tetralogy of Fallot, hypoplastic left heart syndrome, cleft palate without cleft lip, and esophageal atresia/tracheoesophageal fistula. CONCLUSIONS: This study can be used to evaluate individual state surveillance data, and to help plan for public health care and educational needs. It also provides valuable data on racial/ethnic patterns of selected major birth defects.

Black or African American↗
PubMed1994

Anal endosonography for identifying external sphincter defects confirmed histologically.

Defects of the external anal sphincter have traditionally been diagnosed by palpation, anal manometry and electromyography (EMG), but anal endosonography enables clear imaging of both the internal and external sphincter muscles. A study was performed to validate the interpretation of ultrasonographic images of external sphincter defects using histology as a 'gold standard'. In addition the accuracy of clinical examination, manometry, EMG mapping and anal endosonography in the diagnosis of sphincter defects were compared prospectively. Twelve consecutive patients with faecal incontinence (11 women, one man; mean age 46 (range 30-64) years) who required sphincter repair underwent clinical assessment, anal manometry, concentric-needle EMG mapping and anal endosonography before surgery. The endosonographer was unaware of the history or results of physiological tests and the surgeon performing the repair was blind to the ultrasonographic findings. At operation most or all of the suspected defect was excised and examined histologically. The pathologist was unaware of the endosonographic or operative findings at the time of reporting. Combined operative and histological examination identified an external sphincter defect in nine of the 12 patients. Anal endosonography correctly identified all nine defects and the three normal sphincters. The accuracy of clinical examination was 50 per cent and that of both EMG and anal manometry 75 per cent. In addition, anal endosonography identified a defect of the internal anal sphincter in eight patients. External sphincter defects identified by endosonography have not been previously verified histologically. Precise sphincter assessment is mandatory for the correct management of faecal incontinence. Anal endosonography is more accurate than clinical and conventional physiological methods and also provides information on the internal sphincter.

Adult↗
PubMed2003

Reconstruction of segmental mandibular defects by distraction osteogenesis for mandibular reconstruction.

BACKGROUND: Distraction osteogenesis is an established technique for the lengthening of long bones and correction of selected craniofacial deformities. Regenerate osteoid bone matrix formed during the distraction phase is malleable and can recreate the three-dimensional form of native bones. Animal experiments and early clinical experience have confirmed that distraction osteogenesis can be used for the reconstruction of segmental bony defects. Herein we discuss the principles of distraction osteogenesis in reference to reconstruction of segmental bony defects and report its clinical application of the mandible continuity defects. PATIENTS AND METHODS: Four patients (age, 7-83 years) with critical segmental mandibular defects (range, 3.5 cm-6.5 cm), resulting from ablative oncologic head and neck surgery underwent primary mandibular reconstruction by transport distraction osteogenesis. Two defects were at the angle and body region, one at the body, and the other at the parasymphysis and body region. Synthes Titanium Multi-vector and Leibinger Multi-guide distractors in bifocal (n = 2) and trifocal (n = 2) architecture were used after the stabilization of the segmental continuity defect using a defect-bridging mandibular reconstruction plate. Osteodistraction was carried out at a rate of 1 mm per day, with once or twice a day rhythm, after a 1-week latency period. The consolidation period was equal to the period of distraction. RESULTS: All patients tolerated the distraction procedure. Satisfactory bone formation was observed in two patients, and partial bone formation was seen in one patient. Treatment failure was encountered in one patient who had a second oral cavity primary tumor observed during the consolidation period, requiring interruption of the treatment sequence. CONCLUSIONS: Mandibular reconstruction with distraction osteogenesis is a potentially useful technique in selected patients with segmental mandibular continuity defects after ablative head and neck cancer surgery.

Aged↗