Current surgical strategies for treating spinal tumors: Results of a questionnaire survey among members of the German Spine Society (DWG).

PURPOSE: Questionnaire survey among the members of the German Spine Society (Deutsche Wirbelsäulen-Gesellschaft, DWG) to objectify oncological infrastructure and current standard of care in spinal tumor treatment in Germany. METHODS: All DWG-members were contacted via the society's e-mail and asked to respond in anonymized form to a related questionnaire. Questions were asked regarding surgical specialty, type of institution involved, numbers of spinal procedures, as well as questions on treatment for primary tumors, whether the respondent belonged to a tumor center, decision-making procedures for surgery, and the type of procedure. RESULTS: 84 centers providing surgical treatment for spinal tumors in their departments were identified. 52.6% were carrying out more than 500 spinal procedures per year. There was a significant association (P ≤ 0.05) between the numbers of spinal surgeries, the number of treated tumor patients per year, the organisation in a tumor center and the treatment of primary tumors. 76% are part of a local tumor center for interdisciplinary decision making (i.e.surgical treatment and adjuvant therapy). 74% of the institutions stated that conventional postoperative radiotherapy is standardly administered in the case of secondary lesions, with 24% of them referring patients to external services for radiotherapy. CONCLUSION: In spite of often large numbers of spinal operations, the centers perform relatively small numbers of tumor operations, particularly for primary tumors. A nearly three-quarter majority of the departments are integrated into interdisciplinary tumor care. However, there is a marked number that do not belong to an interdisciplinary organisation. Further advances in multidisciplinarity and oncology training are a continuous issue to increase treatment quality in spinal tumor patients.

Serial ankle casts for patients with idiopathic toe walking: effects on functional gait parameters.

PURPOSE: The aim of the present study was to investigate the functional effects on gait parameters of serial ankle casts for patients with idiopathic toe walking (ITW), in comparison with an unremarkable control group. METHODS: A prospective trial with a pre-test-post-test control group design included ten patients with ITW and ten healthy matched children. Children with ITW underwent serial casting to stretch the plantar flexors, with two 14-day periods with walking plaster casts set at the maximum available ankle dorsiflexion. Both groups were assessed clinically and using a functional gait analysis before and after serial casting, as well as at a six-month follow-up visit. RESULTS: The normalized plantar heel force increased from 5% pre-interventionally to 79% at the follow-up. The upper ankle-joint angle and the base angle also demonstrated significant changes. Normalized compound action potentials of the medial heads of the gastrocnemius were reduced by 70%. None of these parameters demonstrated any significant differences at the follow-up examination in comparison with the healthy control group. Variations in the displacement of the knee joint on the sagittal plane and of the center of gravity in the transverse plane did not show any significant differences in comparison with the control group. CONCLUSION: The reduction of muscle tone and lengthening of the ankle plantar flexors led to persistent increased active ankle dorsiflexion with significant long-term improvement of functional kinematic parameters. No significant difference in the gait analysis was found between the ITW group and healthy children six months after treatment.Level of Evidence: Level II - Therapeutic.

[Modified PemberSal osteotomy technique with lyophilized human allograft]. / Technik der modifizierten PemberSal-Osteotomie mit lyophilisiertem humanem Allograft.

OBJECTIVE: PemberSal osteotomy to improve femoral head coverage by rotating the acetabular roof ventrally and laterally. INDICATIONS: Insufficient coverage of the femoral head, and can be combined with other surgical procedures such as femoral intertrochanteric varus-derotation osteotomy and open reduction for developmental dysplasia and dislocation of the hip or to improve sphericity and containment in Legg-Calvé-Perthes disease. This specific acetabuloplasty can only be performed in patients with an open epiphyseal growth-plate. CONTRAINDICATIONS: Increased bleeding tendency (e.g., inherited or iatrogenic); elevated anesthetic risk such as in cerebral palsy, arthrogryposis multiplex congenital, trisomies; syndromes require explicit interdisciplinary clarification to reduce perioperative risks; infections as in other elective surgeries; diseases/deformities making postoperative spica casting impossible or impractical (e.g., deformities of spinal cord or urogenital system, hernias requiring treatment); closed epiphyseal plate requires complex three-dimensional corrections of the acetabular roof (e.g., triple/periacetabular osteotomy). SURGICAL TECHNIQUE: Osteotomy from the iliac bone to the posterior ilioischial arm of the epiphyseal growth-plate cartilage; controlled fracture of the cancellous bone without breaking the medial cortex of the iliac bone for ventrocaudal rotation of the acetabular roof. To refill and stabilize the osteotomy site, an allogenic bone-wedge is interponated and secured by a resorbable screw or kirschner wire. This method also allows more complex reconstructions of the acetabular roof, e.g., by including the pseudo-cup in a modified Rejholec technique. POSTOPERATIVE MANAGEMENT: A spica cast is applied to immobilize the hip for 6 weeks. Afterwards physiotherapy can be performed under weight-bearing as tolerated. Radiographic check-ups every 6 months.

Infertility treatment and children's longitudinal growth between birth and 3 years of age.

STUDY QUESTION: Does early childhood growth from birth through to 3 years of age differ by mode of conception? SUMMARY ANSWER: Findings suggest early childhood growth was comparable for children irrespective of infertility treatment, but twins conceived with ovulation induction with or without intrauterine insemination (OI/IUI) were slightly smaller than twins conceived without treatment. WHAT IS KNOWN ALREADY: Although studies have found that babies conceived with infertility treatment are born lighter and earlier than infants conceived without treatment, little research especially for non-assisted reproductive technology (ART) treatments has focused on their continued growth during early childhood. STUDY DESIGN, SIZE, DURATION: Upstate KIDS recruited infants born (2008-2010) to resident upstate New York mothers. Infants were sampled based on birth certificate indication of infertility treatment; specifically, for every singleton conceived by infertility treatment, three singletons without infertility treatment were recruited and matched on region of birth. All multiple births irrespective of treatment were also recruited. Children were prospectively followed, returning questionnaires every 4-6 months until 3 years of age. In total, 3905 singletons, 1129 sets of multiples (96% of whom were twins) enrolled into the study. Analyses included 3440 (88%) singletons (969 conceived with treatment; specifically, 433 with ART and 535 with OI/IUI) and 991 (88%) sets of multiples (439 conceived with treatment; specifically 233 with ART and 206 with OI/IUI) with growth data available. PARTICIPANTS/MATERIALS, SETTING, METHODS: Mothers reported infertility treatment use at baseline and children's height and weight from pediatric visits. Self-reported use of ART was previously verified by linkage with the US Society for Assisted Reproductive Technology Clinic Outcome Reporting System (SART CORS) database. Mixed linear models with cubic splines accounting for age and age-gender interactions were used to estimate mean differences in growth from birth to 3 years by infertility treatment status and adjusting for maternal age, race, education, private insurance, smoking status during pregnancy, maternal pre-pregnancy and paternal body mass indices (BMI). MAIN RESULTS AND THE ROLE OF CHANCE: Compared with singletons conceived without treatment (n = 2471), singletons conceived by infertility treatment (433 by assisted reproductive technologies (ART), 535 by OI/IUI and 1 unknown specific type) did not differ in growth. Compared with twins not conceived with treatment (n = 1076), twins conceived with OI/IUI (n = 368) weighed slightly less over follow-up (122 g). They were also proportionally smaller for their length (-0.17 weight-for-length z-score units). No differences in mean size over the 3 years were observed for twins conceived by ART, though some evidence of rapid weight gain from birth to 4 months (adjusted OR 1.08; 95% CI: 1.00-1.16) suggestive of catch up growth was observed. LIMITATIONS, REASONS FOR CAUTION: Participants from upstate New York may not be representative of US infants. Although accounted for in statistical analysis, attrition during follow-up may have limited power to detect small differences. WIDER IMPLICATIONS OF THE FINDINGS: This study is the first to prospectively track the growth of children conceived with and without infertility treatment in the USA, including a substantial number of twins. Our findings are similar to what was previously observed in the ART literature outside of the states. STUDY FUNDING/COMPETING INTERESTS: Supported by the Intramural Research Program of the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD; contracts #HHSN275201200005C, #HHSN267200700019C). Authors have no competing interests to declare. TRIAL REGISTRATION NUMBER: Not applicable.

Prospective quantitative assessment of spinal range of motion before and after minimally invasive surgical treatment of vertebral body fractures.

INTRODUCTION: Randomized clinical trials have generated doubts regarding the therapeutic effectiveness of spinal kyphoplasty to reduce pain and improve quality of life in patients with vertebral fractures. There is a paucity of data on the influence of kyphoplasty on spinal range of motion. To quantify early postoperative changes following kyphoplasty in spinal motion, a noninvasive, radiation-free measurement method was used and results related to clinical and radiological parameters. METHODS: The study group included 30 patients with an overall number of 54 symptomatic pathological vertebral compression fractures. All patients were treated with balloon kyphoplasty. Clinical results were recorded using the visual analog scale, SF 36, Roland Morris Score and the Oswestry Disability Index, at three time points; preoperative, 2 days postoperative, and at 12 weeks postoperative. The kyphosis angle/sagittal index were determined with biplanar X-rays. Amplitude/velocity of motion in extension/flexion was measured at each time point by use of the EpionicsSPINE(©) system (Epionics Medical GmbH; Potsdam, Germany) using two external sensor strips. RESULTS: Preoperative magnetic resonance imaging scans showed bone marrow edema in all vertebral bodies indicative of a recent, non-consolidated fracture. Pain and quality of life was significantly improved by kyphoplasty, both for the immediate postoperative period, as well as at 12 weeks postoperative. Radiological parameters also showed significant improvement following surgery. Total ROM did not significantly change 2 days after kyphoplasty, but amplitude and velocity were found to be increased 12 weeks postoperatively. Significant positive correlations were observed between increased range of motion and improved clinical/radiological scores. CONCLUSION: Significant clinical and radiological improvement following kyphoplasty supports the rational for cement augmentation in patients with pathological vertebral body fractures. To the knowledge of the authors, no prior study has assessed the influence of preservation and improvement of spinal range of motion on clinical outcome following kyphoplasty.

[Complications after osteosynthetic treatment of acetabular fractures]. / Komplikationen nach osteosynthetischer Versorgung von Azetabulumfrakturen.

The early work of Judet and Letournel in the 1970s and 1980s led to a paradigm shift in the treatment of acetabular fractures. The previously purely conservative treatment was replaced more and more by open surgical approaches. The complex, three-dimensional bony anatomy and the periacetabular soft tissue with a close topographic relationship to intrapelvic and extrapelvic neurovascular and visceral structures implicate an increased rate as well as a high risk for intraoperative and postoperative complications. Simultaneously, anatomical reconstruction with a gap step-off less than 1-2 mm is required. Fractures of the acetabulum are comparatively rare and only few trauma centers have the capability and the infrastructure to treat acetabular fractures. Therefore, the aim of this review was to illustrate the possible intraoperative and postoperative complications of osteosynthetic treatment of acetabular fractures as well as to identify possible strategies for treatment and prevention.

[Congenital hip dysplasia in newborns : Clinical and ultrasound examination, arthrography and closed reduction]. / Kongenitale Hüftluxation bei Neugeborenen : Klinische und sonographische Untersuchung, Technik der Arthrographie und geschlossenen Reposition.

OBJECTIVE: Early diagnosis and rapid closed reduction under arthrographic control to initiate retention in a new position during the interval of maximum subsequent maturation power. This allows a (nearly) physiological ripening of the femoral head and acetabulum (AC) with restoration of the congruence of the joint partners (containment) and joint stability. INDICATIONS: Clinically- and ultrasound-proven dislocation of the hip in the newborn. CONTRAINDICATIONS: Increased bleeding, increased risk of anesthesia due to immaturity/prematurity, inability to use a retention cast due to malformations of the urogenital system, spinal deformities, or hernias requiring treatment or supervision. SURGICAL TECHNIQUE: Palpation of the tuberosity of the ischium in 110° flexion and 40-50° abduction of the leg and then puncture lateral to this point. Advance the needle parallel to the plane of the table in the direction of the empty acetabulum and x-ray control. Control of intra-articular needle position by injection of isotonic saline solution. Test reflux by disconnection. Cautious instillation of 0.2-0.4 ml of contrast medium under X-ray control. Closed reduction under X-ray control by pulling slightly, flexion and abduction of the hip joint. Cast applied in approximately 110° hip flexion and 40° abduction. POSTOPERATIVE MANAGEMENT: MRI control on postoperative day 1. Spica cast for 4 weeks. Then cast removal, clinical and ultrasound examination and immediate start of further treatment with a hip splint in 110° hip flexion and 30-40° abduction. Ultrasound follow-up every 3-4 weeks. RESULTS: A total of 40 patients (female:male = 33:7) with 49 hip dislocations were analyzed. The mean age at reduction was 73 days (range 1-334 days). In 21 cases, treatment was started at another hospital. Intra- or immediate postoperative complications were not detectable. According to the control MRI on the first postoperative day, the cast had to be removed in 7 cases (17.7 %) due to insufficient reduction, although no classical need for repositioning could be identified in the MRI analysis. Instead, compared to cases with sufficient hip reduction, significantly reduced acetabular articular surfaces were found, so that in these cases, a lack of stability due to the lack of congruency between the femoral head and the AC must be considered. Signs of a fulminant avascular necrosis (AVN, grade 3 and 4 according to Kalamchi) and a pathological acetabular angle (grade 3 and 4 according to Tönnis) were observed during follow-up in 17.3 and 40.7 % of cases, respectively.

[Growth and deformity after in situ fixation of slipped capital femoral epiphysis]. / Wachstum und Deformität nach In-situ-Fixation der Epiphyseolysis capitis femoris.

BACKGROUND: For mild to moderate slipped capital femoral epiphysis (SCFE) in situ fixation is the current treatment standard. However, concerning the implant selection (screw versus k-wires) as well as the prophylactic stabilisation of the non-affected hip, controversies still exist. The aim of this study was to analyse femoral residual growth and femoral deformities after in situ fixation of SCFE either with k-wires or screws. PATIENTS AND METHODS: We conducted a retrospective analysis of the radiographs of adolescents treated for SCFE in our department between 01/2003 and 02/2011. To evaluate femoral growth the articulo-trochanteric distance, centro-trochanteric distance, caput-collum-diaphyseal angle, pin-joint ratio and pin-physis ratio were determined. The femoral deformity was assessed by measuring the sphericity of the femoral head. Degenerative changes were evaluated in the final radiographs. Statistical analysis was performed concerning differences between therapeutically and prophylactically treated hips as well as stabilisations with k-wires and screws. RESULTS: A total of 22 patients (female : male = 14 : 8, mean age girls: 11 ± 1 years, boys: 13 ± 2 years) with 26 slipped capital femoral epiphyses was analysed. K-wires were used for fixation in 4 hips each therapeutically and prophylactically, 22 hips with SCFE and 14 non-affected hips were stabilised with screws. Treatment with screws did not lead to significantly earlier physeal closure than k-wire pinning. Regarding the femoral growth parameters a significant decrease in the articulo-trochanteric distance and CCD angle was detectable in all groups. The pin-joint ratio revealed an adequate residual growth in 58 % of the therapeutically and in 72 % of the prophylactically treated hips without significant difference between k-wires and screws. The pin-physis ratio demonstrated similar values. Regarding the femoral deformity the SCFE hips resulted in a significantly reduced sphericity, which remained unchanged during follow-up. The prophylactic stabilisation did not result in any deterioration of sphericity. CONCLUSION: The results of this study imply that further growth of the proximal femur after insertion of a sliding screw for in situ stabilisation of mild to moderate slipped capital femoral epiphysis does occur. Furthermore, an increase of deformity during follow-up through screw fixation as compared to pinning was not noticed. Hence, the assumption that screw fixation leads to permanent physeal impairment cannot be confirmed. The consideration of these results may be helpful for implant selection as well as indicating prophylactic surgery for non-affected hips.

[Solitary spinal metastases. Is aggressive surgical management justified?]. / Solitäre Metastasen der Wirbelsäule. Indikationen für eine aggressive chirurgische Therapie?

Advances in oncological and surgical therapies have led to a significant increase in life expectancy of cancer patients and also prolonged survival of patients with isolated or multiple metastases. Among the skeletal manifestations the spine is the most often affected site. Using novel imaging techniques with higher resolution and use of metabolic signatures, the screening of cancer patients has improved considerably. Consequently, the diagnosis of metastases is becoming increasingly more sensitive. Therefore, but also due to more effective polychemotherapy protocols, singular or solitary metastases are more frequently observed either in the early stages or as a result of a controlled malignant tumor entity (stable disease). The questions whether a solitary metastasis really exists (illusion or reality?) and its radical oncological and surgical treatment as a circumscribed singular tumor manifestation, is really relevant for the overall prognosis, remains controversial. However, it seems evident that a biologically favorable underlying tumor biology, radical treatment of the primary tumor and a long metastasis-free interval are valid predictors of a good oncological outcome. In the presence of a solitary metastasis under these circumstances (typical example: solitary metastasis of renal cell carcinoma many years after radical tumor nephrectomy) a radical surgical procedure (en bloc spondylectomy) can significantly improve the long-term prognosis of this patient group in combination with adjuvant chemotherapy and/or radiotherapy. However, a thorough evaluation of the overall survival prognosis, a detailed and complete staging followed by a treatment consensus in the interdisciplinary tumor board has to precede any therapeutical decisions.

[Manifestation of osteosarcoma of chronic osteomyelitis: 2 case reports]. / Osteosarkommanifestation bei chronischer Osteomyelitis: 2 Fallberichte.

The treatment and outcome of two patients suffering from osteosarcoma of the lower extremity evolving many years after manifestation of chronic osteomyelitis are reported. After neoadjuvant polychemotherapy in one patient en bloc resection, interposition of a cement spacer and stabilization was performed in both cases. After eradication of infections final segmental reconstruction was accomplished by knee arthrodesis using rotation plasty of the split femoral condyle, free local fibula transposition and gastrocnemius muscle transfer. A custom-made diaphyseal replacement (3D-rapid prototyping titanium mesh) was used for defect reconstruction. After 1 year postoperative follow-up and restaging both patients showed no evidence of recurrent disease and had no local or systemic signs of infection.

[Biomechanical aspects of complex reconstructions following radical resection of thoracolumbar spinal tumors]. / Biomechanische Aspekte radikaler Resektionen und deren Rekonstruktion an der thorakolumbalen Wirbelsäule.

The total number of spinal tumors has increased over the past decade. However, the average survival time of tumor patients has increased due to improvements in the multidisciplinary treatment regimes. Therefore, radical tumor resection and complex reconstruction were developed in spinal surgery. Various reconstructive options for the throracolumbar spine are nowadays available and are depicted in this article. The success of complex reconstructive surgery relies on biomechanical principles and reconstruction is dependent on the size and location of the lesion, bone porosity and implant systems used. Special emphasis of this article focuses on en bloc vertebrectomy which is the most radical approach of spinal tumor surgery. The biomechanical aspects of different types of lesions and the reconstructive options are discussed in the context of the currently published literature.

[Surgical management of thoracolumbar spinal sarcoma]. / Chirurgisches Management von Sarkomen der thorakolumbalen Wirbelsäule.

Primary malignant tumors of the thoracolumbar spine are very rare. The most common entities are chordoma, followed by osteosarcoma, Ewing's sarcoma and chondrosarcoma. Detailed imaging and a sequential biopsy are the most important diagnostic steps. The surgical staging system of Weinstein and Boriani permits a precise analysis of tumor expansion. Therapy under a multimodal concept consists of (neo-) adjuvant therapy and possible radiation. The surgical therapy should be performed as an en bloc excision with sufficient resection borders. The reconstruction of the defects must include methods of vertebral body replacement and long posterior instrumentation. En bloc spondylectomy is a very demanding technique and demands strict indications, close cooperation with adjacent specialties and exact planning of the operation. Only in this manner is the operation possible and offers the only sufficient form of resection. The execution of the en bloc spondylectomy should be left to spine centers with great experience, as they could also guarantee the respective complication management.

[Multisegmental en bloc spondylectomy. Indications, staging and surgical technique]. / Multisegmentale En-bloc-Spondylektomie. Indikation, Staging und chirurgische Technik.

OBJECTIVE: Description of the surgical technique including approaches and spinal reconstruction principles for patients scheduled for multilevel en bloc excision of vertebral tumors (multisegmental total en bloc spondylectomy) with the aim to attain tumor-free margins and minimize the risk of local and systemic tumor recurrence. Restoration of biomechanically sufficient spinal stability. Functional preservation and/or regaining of adequate neurological function. INDICATIONS: Primary malignant and benign, aggressive spinal tumors. Solitary metastatic tumors of biologically and prognostically favorable primary tumor (good prognostic scores). Extracompartmental, multisegmental vertebral tumor manifestations according to Tomita type 6. CONTRAINDICATIONS: Diffuse spinal/vertebral tumor spread according to Tomita type 7 (disseminated spinal metastatic disease). Detection of distant metastases in the staging investigation. Biologically unfavorable tumor entities or primary systemic malignant tumors/diffuse disseminated malignoma (Tomita score < 4-5 points, Tokuhashi score < 12 points). SURGICAL TECHNIQUE: Depending on tumor growth, sequential performance of the anterior and posterior approach for local tumor release and preparation/replacement of encased large vessels. Posterior approach via dorsomedial incision and exposure of the posterior vertebral elements. Costotransversectomy, resection of the facets, resection of paravertebral rib segments. Laminectomy in the tumor-free lamina segment, resection of the ligamentum flavum and paradural ligation of affected nerve roots, bilateral ligation of the segmental arteries. Digital extrapleural palpation and dissection to the anterior vertebral body parts. Insertion of S-shaped spatulas ventral to the anterior aspect of the spine, and dissection of the disc spaces and the posterior longitudinal ligament. Instrumentation of pedicle screws and unilateral rod fixation, mobilization and careful, manual turning out/rotation of the affected vertebral segments around the longitudinal axis of the spinal cord. Interpositioning of a carbon-composite cage from posterior filled with autologous bone. Completion of the posterior stabilization, soft tissue closure, Goretex patch fixation if required in cases of chest wall resections. POSTOPERATIVE MANAGEMENT: Intensive care monitoring with balanced volume replacement/transfusion. Postoperative adjuvant radiotherapy or chemotherapy, depending on the protocol and resection margins.

Minimally invasive combined anterior kyphoplasty for osteolytic C2 and C5 metastases.

Kypho- and vertebroplasty are widely accepted for treating patients suffering from pathologic thoracolumbar lesions, in particular diffuse metastatic-induced fractures. They provide rapid pain relief and the restoration of spinal stability. In the cervical spine, attempts have been made to use cement augmentation for these indications. However, the cervical spine's anatomy complicates the transpedicular approach, as well as the pre-formation of a vertebral body cavity and the application of bone cement. We report the case of a 46-year-old woman suffering from symptomatic C2 and C5 osteolysis caused by metastatic breast cancer. Following a surgical staging and classification (Tokuhashi-Score) that indicated palliative procedures, we performed a C2 and C5 kyphoplasty using one minimal-invasive anterior approach through a small incision. We observed an uneventful procedure and postoperative course as well as immediate pain relief and patient mobilization. Last patient follow-up at 3 months showed an excellent outcome. Our observations showed cervical spine kyphoplasty via a minimally invasive anterior approach to be feasible, successful and safe surgical method in the interdisciplinary palliative treatment.

Maternal occupation and the risk of birth defects: an overview from the National Birth Defects Prevention Study.

OBJECTIVES: To examine the association between a spectrum of 24 maternal occupations and 45 birth defects for hypothesis generating purposes. METHODS: Cases of isolated and multiple birth defects (n = 8977) and all non-malformed live-born control births (n = 3833) included in the National Birth Defects Prevention Study (NBDPS) with estimated dates of delivery from 1 October 1997 through 31 December 2003 were included. A computer-assisted telephone interview with mothers was conducted. Occupational coding using the 2000 Standard Occupational Classification System and the 1997 North American Industry Classification System was completed for all jobs held by mothers. Jobs held from 1 month before pregnancy to the end of the third pregnancy month were considered exposures. Logistic regression models were run, adjusted for potential confounders. We also used a Bayesian approach to logistic regression. RESULTS: Approximately 72% of case mothers and 72% of control mothers in the NBDPS were employed. Several occupational groups were positively associated with one or more birth defects, including janitors/cleaners, scientists and electronic equipment operators. Using standard logistic regression, we found 42 (26 for Bayesian) significantly elevated risks of birth defects in offspring of working mothers. In addition, several other occupational groups were found to be negatively associated with one or more birth defects, including teachers and healthcare workers. Using standard logistic regression, we found 12 (11 for Bayesian) significantly reduced risks of birth defects among offspring of working women. CONCLUSIONS: Results from these analyses can be used for hypothesis generating purposes and guiding future investigations of occupational exposures and birth defects.

Congenital gastrointestinal defects in Down syndrome: a report from the Atlanta and National Down Syndrome Projects.

We report Down syndrome (DS)-associated congenital gastrointestinal (GI) defects identified during a 15 year, population-based study of the etiology and phenotypic consequences of trisomy 21. Between 1989 and 2004, six sites collected DNA, clinical and epidemiological information on live-born infants with standard trisomy 21 and their parents. We used chi-squared test and logistic regression to explore relationships between congenital GI defects and infant sex, race, maternal age, origin of the extra chromosome 21, and presence of a congenital heart defect. Congenital GI defects were present in 6.7% of 1892 eligible infants in this large, ethnically diverse, population-based study of DS. Defects included esophageal atresia/tracheoesophageal fistula (0.4%), pyloric stenosis (0.3%), duodenal stenosis/atresia (3.9%), Hirschsprung disease (0.8%), and anal stenosis/atresia (1.0%). We found no statistically significant associations between these defects and the factors examined. Although not significant, esophageal atresia was observed more often in infants of younger mothers and Hispanics, Hirschsprung disease was more frequent in males and in infants of younger mothers and blacks, and anal stenosis/atresia was found more often among females and Asians.

Process of and problems in changing a birth defects registry reporting system.

BACKGROUND: The New York State (NYS) Department of Health (DOH) Congenital Malformations Registry (CMR), which began operations in 1982, was developed after the Love Canal crisis. New York hospitals are mandated to report children under age 2 years in whom a congenital anomaly is diagnosed. The CMR has tried to maintain a quality birth defects registry by using identifiers; narrative for defects; and completeness and accuracy, balanced with timeliness. In recent years, the existence of the registry has been questioned, and the NYS DOH evaluated the CMR to streamline it and to reduce the reporting burden on the hospitals. METHODS: Because NYS hospitals were already required to submit hospital discharge data through the Statewide Planning and Research Cooperative System (SPARCS), the CMR used this system as an alternative method for reporting. RESULTS: The evaluation indicated that the CMR, SPARCS, and hospital systems needed to be modified. Modifications needed to maintain registry quality were the most difficult. CMR staff worked closely with hospital personnel on all modifications so they would understand the reasons for the modifications. The changes were more global than originally anticipated, involving large national software vendors. CONCLUSIONS: The transition is ongoing. Additional work will be needed to verify data quality. Some of the modification will affect national software vendors and may be useful for other birth defects registries.

The National Birth Defects Prevention Study.

The National Birth Defects Prevention Study was designed to identify infants with major birth defects and evaluate genetic and environmental factors associated with the occurrence of birth defects. The ongoing case-control study covers an annual birth population of 482,000 and includes cases identified from birth defect surveillance registries in eight states. Infants used as controls are randomly selected from birth certificates or birth hospital records. Mothers of case and control infants are interviewed and parents are asked to collect buccal cells from themselves and their infants for DNA testing. Information gathered from the interviews and the DNA specimens will be used to study independent genetic and environmental factors and gene-environment interactions for a broad range of birth defects. As of December 2000, 7,470 cases and 3,821 controls had been ascertained in the eight states. Interviews had been completed with 70% of the eligible case and control mothers, buccal cell collection had begun in all of the study sites, and researchers were developing analysis plans for the compiled data. This study is the largest and broadest collaborative effort ever conducted among the nation's leading birth defect researchers. The unprecedented statistical power that will result from this study will enable scientists to study the epidemiology of some rare birth defects for the first time. The compiled interview data and banked DNA of approximately 35 categories of birth defects will facilitate future research as new hypotheses and improved technologies emerge.

An evaluation of congenital malformations surveillance in New York State: an application of Centers for Disease Control and Prevention (CDC) guidelines for evaluating surveillance systems.

Established in 1982, the New York State Congenital Malformations Registry (NYCMR) is one of the largest statewide, population-based birth defects registries in the nation. In this article, we evaluate the surveillance of congenital malformations in New York State using the Centers for Disease Control and Prevention (CDC) guidelines for evaluating public health surveillance systems. In addition to the evaluation of selected qualitative and quantitative system attributes, we assess the public health significance and usefulness of the surveillance system and how well it is meeting its stated objectives. The NYCMR uses passive case ascertainment, relying on reports from hospitals and physicians. A congenital malformation is defined as any structural, functional, or biochemical abnormality determined genetically or induced during gestation and not due to birthing events. In addition to being the primary source of congenital malformations surveillance data in New York State, the NYCMR also provides cases for traditional epidemiological studies to determine risk factors for specific congenital malformations. The NYCMR has been working to meet its stated objectives while striving to improve its qualitative and quantitative attributes. Registry personnel have implemented several measures designed to enhance the simplicity of the data collection and data entry processes, as well as to maintain the acceptability of the surveillance system to the reporting sources. Because it is a statewide, population-based surveillance system, by far the strongest quantitative attribute of the NYCMR is representativeness. The sensitivity of the NYCMR is difficult to evaluate. Available estimates suggest, however, that the NYCMR identifies a large proportion of children born with congenital malformations in New York State and diagnosed from birth through two years of life. Finally, the NYCMR has in recent years been able to publish and disseminate annual reports describing the distribution of specific malformations in New York State on a timely basis.

First year-of-life mortality among infants with oral clefts: New York State, 1983-1990.

This study examined the mortality experience of children with oral clefts using the New York State Congenital Malformations Registry. Infants born in the years 1983 to 1990 to New York residents, diagnosed with an oral cleft and matched to their birth certificate were included in the analysis. Children with oral clefts were compared to a sample of live births from the years 1983 to 1990 without malformations. Children with cleft palate without additional malformations had a statistically nonsignificant adjusted risk of 1.2 when compared to children with no malformations. Children with cleft lip with or without cleft palate had a 1.1 adjusted risk. However, 35% of children with oral clefts had associated malformations and experienced much higher mortality. Children with oral clefts should be carefully evaluated for additional malformations; if none are found, their mortality appears not to be elevated.