Harmonization of commercial assays for PINP; the way forward.

International Federation of Clinical Chemistry and Laboratory Medicine and The International Osteoporosis Foundation Joint Committee on Bone Metabolism believes that the harmonization of PINP assays is an achievable and practical goal. INTRODUCTION: In order to examine the agreement between current commercial assays, a multi-center study was performed for PINP in serum and plasma. METHODS: The automated methods for PINP (Roche Cobas and IDS iSYS) gave similar results. A significant proportional bias was observed between the two automated assays and the Orion radioimmunoassay (RIA) for PINP. RESULTS: Results from other published studies comparing PINP values among these three assays broadly support our findings. Taken together, these results confirm that harmonized PINP measurements exist between the two automated assays (Roche Cobas and IDS iSYS) when the eGFR is > 30 mL/min/1.73m2, but a significant bias exists between the Orion RIA and the two automated assays. CONCLUSION: Therefore, in subjects with normal renal function, PINP results reported by the Roche Cobas and IDS iSYS assays are similar and may be used interchangeably, and similar reference intervals and treatment targets could be applied for the two automated assays. Harmonization between the automated assays and the RIA is potentially possible with the use of common calibrators and the development of a reference method for PINP. This should also help ensure that any new commercial assay developed in the future will attain similar results. IOF and IFCC are committed to working together towards this goal with the cooperation of the reagent manufacturing industry.

[Snake charmer NOTES-proctocolectomy in a male patient]. / Snake-charmer-NOTES-Proktokolektomie beim Mann.

Restricted ability of triangulation, a highly flexible intestine, as well as limited control and overview over the abdominal organs, complicated extensive abdominal interventions in the past. Thus, additional access sites were needed to allow sufficient interoperative control. The newly developed snake charmer NOTES-technique enables the reduction of accesses to the umbilicus and rectum. We report the first case of total proctocolectomy with ileoanal pouch formation in hybrid NOTES technique in a male patient.

[Signal stability as key requirement for continuous intraoperative neuromonitoring]. / Signalstabilität als Grundvoraussetzung für kontinuierliches intraoperatives Neuromonitoring.

BACKGROUND: Postoperative recurrent laryngeal nerve (RLN) palsy is a well-known and dreaded complication of thyroid surgery. Continuous intraoperative neuromonitoring (CIONM) has been developed in order to provide an effective real-time surveillance of the RLN to its full extent and to detect subtle changes in nerve conductivity. A key requirement for a reliable interpretation of CIONM is signal stability. PATIENTS AND METHODS: In a prospective randomized controlled pilot study 24 patients corresponding to 30 nerves at risk (NaR) were included to compare a newly developed, flexible, saxophone-shaped backstrap electrode for vagal stimulation (16 NaR) to a commercially available CE-marked cylindrical and rigid electrode (14 NaR). Electrode applicability, safety and signal stability were analyzed by assessment of electrode implantation times, stimulation currents, EMG amplitudes and electrode displacement rates. RESULTS: Implantation and extraction was significantly faster and easier with the saxophone-shaped backstrap electrode. Accidental electrode displacement occurred up to eight times per operation when applying the cylindrical electrode, while a total of two displacements resulted using the backstrap electrode in this study. Stimulation currents necessary for supramaximal RLN stimulation were significantly lower using the newly developed electrode. At the same time, significantly greater stable EMG amplitudes resulted using the new saxophone-shaped electrode. No RLN palsy occurred during the study. CONCLUSIONS: According to the data, only the saxophone-shaped backstrap electrode provided the signal stability required for CIONM. The closed electrode geometry with isolated contacts for nerve stimulation and defined current entry provide the prerequisites required for reliable continuous intraoperative neuromonitoring.

Fibrogenic growth factors in encapsulating peritoneal sclerosis.

BACKGROUND: Increased local levels of fibrogenic growth hormones contribute substantially to the process of encapsulating peritoneal sclerosis (EPS) in animal models. METHODS: We analyzed probes from patients with normal kidney function (n = 10), with normal kidney function and inflammation (n = 10), on PD without (n = 10) and with EPS (n = 9). We investigated the degree of fibrosis and the number of vessels and vasculopathy. Additionally, we investigated the expression of NFkappaB, TGFbeta1, TGFbeta1 receptor, TGFbeta2, TGFbeta2 receptor, FGF-BP, CTGF and VEGF by immunohistochemistry. RESULTS: In EPS, we found an exclusive upregulation of VEGF (normal 0, appendicitis 1.0 +/- 1.2, PD 1.7 +/- 1.8 and EPS 5.7 +/- 4.4; p < 0.0001), whereas in PD, CTGF was significantly increased (normal 6.0 +/- 2.8, appendicitis 7.3 +/- 2.5, PD 10.0 +/- 1.8 and EPS 7.3 +/- 2.1; p = 0.0059). The results for the TGFbeta system and NFkappaB were not uniform, in EPS no increases were demonstrable. Vasculopathy was significantly more pronounced in EPS (normal 0.4 +/- 0.5, appendicitis 0.2 +/- 0.3, PD 1.0 +/- 0.7 and EPS 1.6 +/- 1.2; p < 0.0001) than in PD or inflammation (normal 30 +/- 16, appendicitis 82 +/- 48, PD 1,936 +/- 952 and EPS 2,613 +/- 1,209; p < 0.0001), whereas the density of vessels were decreased (normal 125 +/- 114, appendicitis 817 +/- 347, PD 81 +/- 57 and EPS 36 +/- 33; p < 0.0001). CONCLUSIONS: The process of EPS was associated with increased VEGF in the peritoneum. The reduced density of vessels compared with marked fibrosis could point to hypoxia as an inducer.

[Optimization of staging in colon cancer using sentinel lymph node biopsy]. / Optimierung des Staging beim Kolonkarzinom durch Sentinel-Lymphknoten-Biopsie. Aktuelle Aspekte.

Routine determination of the nodal status in colon cancer is strongly dependent on the individual quality and technique of histopathological assessment and surgical lymph node dissection. We evaluated whether sentinel lymph node biopsy (SLNB) could contribute to an improvement in staging. At least one SLN (median n=2) was detected (detection rate 84%) in each of 38 of 45 patients with primary colon cancer. Ten of these 38 were found to have lymph node metastases by HE staining (26%), six of them in the SLN. Nine of the 28 patients that were initially nodal-negative by HE revealed one micrometastasis and eight cases of isolated tumor cells by immunohistochemical (IHC) staining (32% upstaging response). Including the IHC-positive cases, 19 of the 38 patients were nodal-positive (50%), 15 of them with tumor-infiltrated SLN (overall sensitivity of SLNB 79%). Using the dye method, SLNB is clinically practicable and leads in the majority of the patients to the detection of SLN. The selective, intensified histopathological assessment of SLN identifies small tumor cell deposits in a relevant percentage of patients with little and clinically practicable effort.

[Sentinel lymph node biopsy in colorectal carcinoma]. / Sentinel Lymph Node beim kolorektalen Karzinom.

Lymph node status as an important prognostic factor in colon and rectal cancer is affected by the selection and number of lymph nodes examined and by the quality of histopathological assessment. The multitude of influences is accompanied by an elevated risk of quality alterations. Sentinel lymph node biopsy (SLNB) is currently under investigation for its value in improving determination of the nodal status. Worldwide, the data of 800 to 1000 patients from about 20 relatively small studies are available that focus rather on colon than rectal cancer patients. SLNB may be of clinical value for the collective of patients that are initially node-negative after H&E staining but reveal small micrometastases or isolated tumor cells in the SLN after intensified histopathological workup. If further studies confirm that these patients benefit from adjuvant therapy, the method may have an important effect on the therapy and prognosis of colon cancer patients as well. Another potential application could be the determination of the nodal status after endoscopic excision of early cancer to avoid bowel resection and lymphonodectomy.

Sentinel lymph node biopsy in rectal cancer--not yet ready for routine clinical use.

BACKGROUND: The value of sentinel node biopsy in visceral cancers is uncertain. We evaluated the feasibility and utility of radiocolloid lymphatic mapping and selective lymph node sampling in patients with rectal cancer. METHODS: Forty-eight patients with rectal cancer were investigated. Thirty-seven patients had already undergone preoperative radiochemotherapy for locally advanced tumors. Eleven patients underwent primary surgery. An endoscopic injection of 1 mL technetium 99m-sulfur-colloid into the peritumoral submucosa was performed 15 to 17 hours before surgery. Ex vivo identification of the nuclide-enriched "sentinel lymph nodes" (SLNs) was performed using a hand-held gamma-probe. The selected SLNs were then carefully and systematically examined using serial sections and immunohistochemistry. RESULTS: One or more SLNs were found in 46 of the 48 patients. The SLN detection rate was 96%. Sixteen of the 48 patients had lymph node metastases (35%). In 7 of the 16 patients, the SLNs correctly represented the nodal status. In 9 of the 16 patients, the SLN was tumor-free whereas non-SLN harbored metastases. This result represents a sensitivity of only 44%, and a false-negative rate of 56%. Further analysis showed that the method correctly predicted the nodal status only in the small subgroup of 5 patients with early cancer without preoperative radiation. In 4 patients, juxtaregional lymph nodes were excised on the basis of intraoperative radiocolloid detection, leading to upward staging in 1 patient. CONCLUSIONS: Sentinel lymph node biopsy using the radiocolloid technique with ex vivo lymph node identification shows a relatively high detection rate; however, the sensitivity in patients with locally advanced/irradiated rectal cancer is low. Nevertheless, the detection of juxtaregional metastases can improve staging in some patients. Further studies should focus on patients with early rectal cancers where the data were more promising.

[Interdisciplinary surgery and telemedicine]. / Operative Interdisziplinarität und Telematik.

Surgical therapy is becoming increasingly complex. Besides new surgical techniques, sophisticated diagnostic methods and innovative interventional procedures must be integrated into the therapeutic concept to increase the efficacy of surgery. Accurate application of these techniques requires close cooperation between surgeons, other medical specialists, and technicians. Consequently, there is a significant need for structures promoting efficient communication, organization, and interaction in surgical departments. New techniques developed from telecommunication and information technology enable the transferal of complex medical data at any time to any place and are therefore the basis for telemedical applications. Telemedicine and other new techniques such as virtual operation planning, simulation, and intraoperative navigation promise to increase the efficacy of surgical therapy in the future. This paper provides an overview of the applications of telesurgery and currently available techniques.

Impact of miniprobe ultrasonography on planning of minimally invasive surgery for gastric and colonic tumors.

BACKGROUND: The use of minimally invasive procedures for the management of gastrointestinal cancer is increasing. The aim of this study was to investigate the role of high-frequency miniprobe endoscopic ultrasound (EUS) for therapeutic decisions making in patients with gastric or colonic tumors. METHODS: A total of 137 patients underwent EUS with a 12.5-MHz miniprobe for preoperative staging of tumors of the stomach ( n = 49) or colon ( n = 88). After resection, the surgical path was reviewed to analyze the role of preoperative staging with miniprobes. RESULTS: Miniprobe EUS enabled accurate assessment of the infiltration depth of gastric and colonic tumors. The overall accuracy rates were 88% and 87%, respectively. The lymph node status was predicted correctly in 82% of the patients (sensitivity, 61%, specificity, 94%). Based on the results of miniprobe EUS, patients with gastric cancer were accurately selected to undergo endoscopic mucosal resection, laparoscopic resection, or open surgery in 100%, 91%, and 86% of the cases, respectively. In patients with colonic tumors, the treatment decision analysis showed that the stratification was correct in 90% of the patients. CONCLUSIONS: Miniprobe EUS is a reliable method for validating treatment decisions for patients undergoing minimally invasive procedures for gastric and colonic tumors. This method is particularly valuable in the management of colon cancer, because endoscopic and laparoscopic resections can be offered to selected patients as an alternative to open surgery.

Sentinel node biopsy in anal cancer - a promising strategy to individualize therapy.

BACKGROUND: In order to individualize the therapy in patients with anal cancer, we evaluated the applicability of the sentinel lymph node (SLN) concept for the staging of inguinal lymph nodes in these patients. PATIENTS AND METHOD: SLN mapping using the radiocolloid technique was performed in 12 patients with histopathologically proven anal cancer. Mean age of the 4 male and 8 female patients was 62 years (range: 37-83 years). All patients underwent injection of (99m)Tc-colloid (Nanocis) in 4 portions around the tumor followed by scintigraphy after 17 h and selective lymph node biopsy in case of nuclide enrichment. The nuclide-enriched lymph node was intraoperatively identified by a hand-held gamma-camera. Histopathological assessment of the harvested SLNs included serial sections and immunohistochemical staining. RESULTS: Enrichment of radiocolloid in lymph nodes was seen in 10 of the 12 patients (detection rate: 83%). SLN biopsy was performed in 9 patients, one patient refused the SLN biopsy (SLNB). 4 patients revealed tumor-infiltrated sentinel lymph nodes including one patient with bilateral biopsy, who showed metastases unilaterally. The remaining 5 patients had no evidence of metastases in the excised SLNs. CONCLUSION: It is feasible to evaluate the nodal status of the groin in patients with anal cancer using the radiocolloid technique. Preliminary results indicate a refined diagnostic work-up for anal cancer patients, potentially improving the results of clinical and sonographical examinations. Further application of the method may lead to an individualized treatment of patients with anal cancer.

[Synovial sarcoma of the extremities. Results of surgical and multimodal therapy]. / Synovialsarkome der Extremitäten. Ergebnisse chirurgischer und multimodaler Therapie.

BACKGROUND: Synovial sarcoma is a rare tumor frequently occurring in adolescents and young adults. The preferred location, at the distal parts of the extremities, and the high incidence of distant metastases represent major challenges for treatment. The purpose of this study is to analyze the indications for surgery in the context of a multimodal therapy. PATIENTS AND METHODS: Between October 1992 and December 2000, 41 patients were treated surgically for synovial sarcoma of the extremities. Their mean age was 35 years (range: 11-75 years). Extracompartmental tumor growth was present in more than 90% of the patients. Fourteen patients (34%) presented with a tumor size of less than 5 cm (T1) while 27 patients (66%) showed lesions greater than 5 cm (T2). At the time of presentation, seven patients had distant metastases; three located in the lung and four in lymph nodes. RESULTS: Due to a locally unresectable tumor or synchronous distant metastases, 28 patients (68%) underwent preoperative systemic chemotherapy (n=9) or isolated limb perfusion (n=18) or both (n=1). In 29 patients, limb-conserving surgery was possible. Of the 12 patients (29%) who required amputation, 85% had a distal tumor. Sixteen patients received additional postoperative radio- and/or chemotherapy. After a median follow-up of 30 months, only two patients (7%) had developed a local recurrence, while seven patients (20%) suffered from new, distant metastases. The 5-year overall survival rate was 82%. CONCLUSION: With a combined modality treatment, it is possible to achieve excellent local control rates and long-term survival in patients with synovial sarcoma of the extremities. Neoadjuvant treatment can enable limb-sparing surgery in most patients, even if the tumors are located in anatomically difficult areas.

Endosonography of upper gastrointestinal tract cancer on demand using miniprobes or endoscopic ultrasound.

BACKGROUND: The aim of this study was to investigate whether endosonography on demand with miniprobes and conventional endoscopic ultrasound improves the accuracy of endosonographic staging of upper gastrointestinal tract cancer. METHODS: Altogether, 173 patients underwent endoscopic ultrasonography for preoperative staging of esophageal (n = 63) or gastric cancer (n = 110). Depending on the endoscopic appearance (i.e., size and growth pattern), tumors were examined with a linear-array echoendoscope (7.5 MHz) or with high-resolution miniprobes (12.5 MHz). The results of preoperative staging were correlated with histopathology of the resection specimen. RESULTS: The overall accuracy of miniprobe ultrasonography and endoscopic ultrasound in assessing the infiltration depth of upper gastrointestinal cancer was 87% and 81%, respectively. Miniprobe ultrasonography was superior to conventional endoscopic ultrasound in the staging of early cancers, particularly T1 tumors (accuracy, 81% vs 56%). The combined accuracy of both techniques for all tumor stages was 82%. Correct diagnosis of lymph node involvement was obtained with miniprobe ultrasonography or endoscopic ultrasound in 76% and 71% of the cases, respectively. The combined accuracy in assessing the lymph node status was 73% (sensitivity, 68%; specificity, 81%). CONCLUSIONS: Endosonography on demand using either miniprobes or conventional endoscopic ultrasound may result in more effective and less invasive staging of esophageal and gastric cancer. Selective use of high-resolution miniprobes and conventional endoscopic ultrasound offers accurate staging of all tumor stages.

Sentinel lymphonodectomy in gastrointestinal cancer--where are we now?

Up to now, no reliable methods for the pre- or intraoperative prediction of the nodal status are available in gastrointestinal cancer patients. Therefore, after the successful application of the sentinel lymph node concept in melanoma and breast cancer, ongoing research on this field is extended to gastrointestinal tumor entities. According to recent experiences, the most promising tumor entities are colon, gastric and anal cancer. First results with these patients indicate that the method could be a reliable predictor of the nodal status and, thus, may have important future implications for adjuvant therapy and the extent of surgery. The dye method for colon cancer and the combined method (dye and radiocolloid) for gastric cancer seem to be appropriate approaches, even when the general experience is still low. In rectal cancer, however, current experience failed yet to yield satisfying results. Up to now, anal cancer has not been a focus of publication, even when the concept seems to be very attractive for the evaluation of the inguinal lymph node status.

The role of transrectal ultrasound-guided biopsy in the postoperative follow-up of patients with rectal cancer.

BACKGROUND: The value of endorectal ultrasound (EUS) in the diagnosis of recurrent rectal cancer is limited by the inability to differentiate between malignant and benign lesions. We have prospectively investigated the role of EUS with transrectal ultrasound-guided biopsy in the postoperative follow-up of rectal cancer. METHODS: Since 1995, patients who had undergone a sphincter-saving operation for rectal cancer (n = 312) were followed-up by a standard program including rectal palpation, carcinoembryonic antigen monitoring, computed tomography, and EUS. Transrectal EUS-guided biopsy of perirectal lesions was performed in 68 patients with perirectal lesions by using a rigid endoprobe with a 10 MHZ multiplane transducer and special targeting device. RESULTS: Overall local recurrence was observed in 36 patients. Intraluminal recurrence was diagnosed by proctoscopy in 12 patients. Transrectal EUS-guided biopsy showed pelvic recurrence in 22 of 68 patients with perirectal lesions. Biopsy specimens with benign histology were obtained from 41 patients, and the procedure failed in 5 cases (accuracy, 92%). There was a strong agreement between transrectal biopsy results and the final diagnosis (kappa = 0.84), the sensitivity and specificity being 91% and 93%, respectively. In contrast, clinical examination (kappa = 0.27), computed tomography (kappa = 0.47), or EUS (kappa = 0.42) showed only a moderate level of agreement with the histopathologic diagnosis, mainly because of the limited specificity of all 3 methods (65% vs 46% vs 57%). EUS-guided biopsy was significantly more accurate than computed tomography and EUS (P <.01). The biopsy results had a considerable impact on the management in 18 of 68 patients (26%). CONCLUSIONS: Transrectal EUS-guided biopsy is a safe and efficient method for tissue sampling of perirectal lesions. This minimally invasive and inexpensive technique improves the accuracy of endorectal ultrasound in the diagnosis of recurrent rectal cancer.

Effects of ambient ozone on lung function in children over a two-summer period.

There is a general consensus that short term exposure to ozone (O3) causes a decrease in lung function parameters such as forced vital capacity (FVC) and forced expiratory volume in one second (FEV1). The objective of this study was to assess the reproducibility of lung function decrements after ambient O3 exposure over a two-summer period. The authors studied 797 children with a mean age of 8.2 yrs (95% confidence interval: 6.9-9.5) from the second and third grades of ten elementary schools in Austria and southwestern Germany. At the outset the various study locations were stratified into three groups with low (L), medium (M) and high (H) O3 exposure (range of mean O3 concentration in the locations April-October 1994: 24-30 (L); 33-38 (M); 44-52 (H) parts per billion (ppb)). Four lung function tests were performed on each child between March 1994 and November 1995. The increases in FVC and FEV1 recorded from one test period to the next were expressed as mL x day(-1). A significantly lower FVC and FEV1 increase was observed in children exposed to high ambient O3 concentration during the summer season. (FVC in summer 1994: 0.83 (L); 0.56 (M); 0.55 (H) mL x day(-1); p=0.004; and summer 1995: 0.80 (L); 0.63 (M); 0.56 (H) mL x day(-1); p=0.011; FEV1 in summer 1994: 0.48 (L); 0.34 (M); 0.18 (H) mL x day(-1); p=0.004 and summer 1995: 0.68 (L); 0.45 (M); 0.41 (H) mL x day(-1), p=0.006). There was no significant difference in FVC or FEV1 increase between the groups during the winter period. Adjusting for sex, age, height and passive smoke exposure, linear regression revealed a statistically significant negative association of average ambient O3 concentration with the FVC and FEV1 increase in both summers. During the winter period no association of O3 with FVC or FEV1 was observed. In conclusion, in two consecutive summer periods the authors found reproducible lung function decrements in children exposed to high levels of ambient ozone. Reoccurrence of ozone associated lung function deficits might increase the likelihood of persisting effects on the childrens' airways.

Assessing primary care content: four conditions common in community health center practice.

Under managed care, community health center (CHC) care patterns will be increasingly subject to outside scrutiny. This article discusses results of medical records reviews assessing quality of care at CHCs for acute otitis media, diabetes, asthma, and hypertension. As a group, these safety net providers meet or exceed prevailing practice across other health care settings; however, there is substantial variation among sites. Regression analyses indicate that the individual CHC used by a patient is the most consistent determinant of whether a patient receives recommended care. Drawing on these results, the article explores approaches for improving care and discusses the implications for performance measurement among CHCs and other safety net providers.

FISH analysis in chromophobe renal-cell carcinoma.

Loss of chromosomes 1, 2, 6, 10, 13, 17, and 21 is a characteristic finding in chromophobe renal-cell carcinoma (ChRCC). Previously, cytogenetic and molecular genetic techniques were used in demonstrating the chromosomal monosomies in ChRCCs. We performed interphase fluorescent in situ hybridization (FISH) using centromeric probes for chromosomes 1, 2, 6, and 10 on touch imprint smears from six histologically proven ChRCCs. All six ChRCC tumors showed one FISH signal corresponding to one copy number for each of these chromosomes. The percent cells with one FISH signal ranged from 48-88% (chromosome 1), 36-89% (chromosome 2), 26-98% (chromosome 6), and 64-99% (chromosome 10). In addition, 3 of the 6 cases were further studied with centromeric probes for chromosomes 13, 17, and 21. All three revealed monosomy of these three chromosomes. We conclude that interphase FISH performed on touch imprint smears is a relatively simple, rapid, and reliable method for detecting chromosome abnormalities which are specific for ChRCCs.

Upper airway inflammation in children exposed to ambient ozone and potential signs of adaptation.

In order to investigate nasal inflammation and subsequent adaptation after ambient ozone exposure, nasal lavage (NL) fluid was collected from 170 schoolchildren on 11 occasions (time points) between March and October. Eosinophil cationic protein (ECP), albumin and leukocytes were quantified as markers of nasal inflammation. The highest half-hour outdoor O3 concentration for each individual on the day prior to the NL was used as a measure of exposure (O3indiv). To avoid confounding with exposure to common environmental allergens, the study population was restricted to children without sensitization to inhalant allergens. In the initial period of increased O3 levels in May (time point 4), with a median O3indiv of 135 microg x m(-3) (5th-95th percentile 100-184 microg x m(-3)), the highest medians of all 11 leukocyte and ECP measurements were observed. The highest O3indiv were observed in June at time point 7 (O3indiv 173 microg x m(-3), 5th-95th percentile 120-203 microg x m(-3)). Cross-sectional analysis of all 11 time points revealed no significant association of O3indiv on the one hand and ECP, albumin and leukocyte levels on the other. A multivariable model estimated using generalized estimating equations showed a statistically significant association of O3indiv and leukocytes and ECP as the dependent variable, when time points 1-4 were analysed (p<0.05). In the same model, this association diminished continuously when time points 5-11 were added stepwise, in spite of high O3 exposure. Not even a tendency towards an O3 effect could be recognized when time points 1-8 were considered. The results indicate: 1) acute inflammation of the nasal mucosa after the first increase in ambient ozone levels, with 2) a significant dose-dependent increase in leukocyte and eosinophil cationic protein levels, and 3) possible adaptation of the nasal mucosa in spite of constant high levels of ozone exposure in children during the summer season.

Use of FISH technique in the diagnosis of chromosomal syndromes.

Major chromosome abnormalities are present in 0.65% of all neonates. Fluorescent in situ hybridization (FISH) is useful in diagnosing microdeletion syndromes that would otherwise be difficult to diagnose using standard cytogenetics. In this study, we used FISH analysis in the laboratory diagnosis of 4 patients with Prader-Willi Syndrome [del(15)(q11.2q12)], 4 patients with DiGeorge syndrome [del(22)(q11.2q11.23)] and 4 patients with Williams syndrome [del(7)(q11.23q11.23)]. High-resolution chromosome analysis in all these patients was either normal or inconclusive but all the syndromes were confirmed using FISH. We recommend cytogenetic analysis should always be supplemented with FISH to diagnose all cases suspected of a microdeletion syndrome.

Rating our progress in population health promotion: report card on six behaviors.

Using McKinlay's population model of prevention, this series assesses the current state of the art for six lifestyle behaviors: tobacco use, alcohol abuse, drug abuse, unhealthy diet, sedentary lifestyle, and risky sexual practices related to human immunodeficiency virus/acquired immunodeficiency syndrome (HIV/AIDS). More progress has been made in "downstream" individually oriented treatments than in broader, more environmentally focused interventions. Promising trends include: a shift toward lower cost minimal-contact and self-help "downstream" programs; the development of tailored messages and stage-based "midstream" initiatives that can reach everyone in a defined population or setting; and the emergence of "upstream" policy advocacy strategies. Improving the power and reach of health behavior change will require advances in biobehavioral research to develop more powerful behavior change strategies along with efforts to more widely disseminate the effective interventions that already exist. Growing evidence supports McKinlay's premise that full-spectrum (downstream to upstream) interventions are needed for greatest population impact. Progress also will depend on finding new ways to address the needs of special populations--including underserved low-income groups, racial and ethnic minorities, individuals with multiple risk behaviors, and youth and their families.