Fetal phenotypes in otopalatodigital spectrum disorders

Otopalatodigital spectrum disorders (OPDSD) include OPD syndromes types 1 and type 2 (OPD1, OPD2), Melnick–Needles syndrome (MNS), and frontometaphyseal dysplasia (FMD). These conditions are clinically characterized by variable skeletal dysplasia associated in males, with extra‐skeletal features including brain malformations, cleft palate, cardiac anomalies, omphalocele and obstructive uropathy. Mutations in the FLNA gene have been reported in most FMD and OPD2 cases and in all instances of typical OPD1 and MNS. Here, we report a series of 10 fetuses and a neonatally deceased newborn displaying a multiple congenital anomalies syndrome suggestive of OPDSD and in whom we performed FLNA analysis. We found a global mutation rate of 44%. This series allows expanding the clinical and FLNA mutational spectrum in OPDSD. However, we emphasize difficulties to correctly discriminate OPDSD based on clinical criteria in fetuses due to the major overlap between these conditions. Molecular analyses may help pathologists to refine clinical diagnosis according to the type and the location of FLNA mutations. Discriminating the type of OPDSD is of importance in order to improve the genetic counseling to provide to families.     

Effects of Cycling Versus Running Training on Sprint and Endurance Capacity in Inline Speed Skating

The purpose of this study was to compare the effects of running versus cycling training on sprint and endurance capacity in inline speed skating. Sixteen elite athletes (8 male, 8 female, 24 ± 8 yrs) were randomly assigned into 2 training groups performing either 2 session per week of treadmill running or ergometer cycling in addition to 3 skating specific sessions (technique, plyometrics, parkour) for 8 weeks. Training intensity was determined within non-specific (cycling or running) and effects on specific endurance capacity within a specific incremental exercise test. Before and after the intervention all athletes performed a specific (300m) and one non-specific (30s cycling or 200m running) all-out sprint test according to the group affiliation. To determine the accumulation of blood lactate (BLa) and glucose (BGL) 20 μl arterialized blood was drawn at rest, as well as in 1 min intervals for 10 min after the sprint test. The sport-specific peak oxygen uptake (VO₂ peak) was significantly increased (+17%; p = 0.01) in both groups and highly correlated with the sprint performance (r = -0.71). BLa values decreased significantly (-18%, p = 0.02) after the specific sprint test from pre to post-testing without any group effect. However, BGL values only showed a significant decrease (-2%, p = 0.04) in the running group. The close relationship between aerobic capacity and sprint performance in inline speed skating highlights the positive effects of endurance training. Although both training programs were equally effective in improving endurance and sprint capacities, the metabolic results indicate a faster recovery after high intensity efforts for all athletes, as well as a higher reliance on the fat metabolism for athletes who trained in the running group.

Key points

• In addition to a highly developed aerobic performance inline speed skaters also require a highly trained anaerobic capacity to be effective in the sprint sections such as the mass start, tactical attacks and finish line sprint.
• An 8-week low-intensity endurance training program of either cycling or running training combined with additional routine training improves classical aerobic characteristics (17% increase of VO₂ peak), as well as values for acceleration and speed.
• Athletes who trained in the running group demonstrated a higher reliance on the fat metabolism in the sport-specific post-testing.
• The significant reduction in anaerobic ATP turnover during repeated sprints appears to be partially compensated by an increase in VO₂ in subsequent sprint. The results revealed a close relationship between the aerobic capacity and sprint performance in inline speed skating.

Key words: Aerobic metabolism, blood glucose concentration, all-out sprint test     

Behavioral and neural responses to gustatory stimuli delivered non-contingently through intra-oral cannulas

The act of eating requires a decision by an animal to place food in its mouth. The reasons to eat are varied and include hunger as well as the food's expected reward value. Previous studies of tastant processing in the rat primary gustatory cortex (GC) have used either anesthetized or awake behaving preparations that yield somewhat different results. Here we have developed a new preparation in which we explore the influences of intra-oral and non-contingent tastant delivery on rats' behavior and on their GC neural responses. We recorded single-unit activity in the rat GC during two sequences of tastant deliveries, PRE and POST, which were separated by a waiting period. Six tastants ranging in hedonic value from sucrose to quinine were delivered in the first two protocols called 4TW and L-S. In the third one, the App L-S protocol, only hedonically positive tastants were used. In the 4TW protocol, tastants were delivered in blocks whereas in the two L-S protocols tastants were randomly interleaved. In the 4TW and L-S protocols the probability of ingesting tastants in the PRE sequence decreased exponentially with the trial number. Moreover, in both protocols this decrease was greater in the POST than in the PRE sequence likely because the subjects learned that unpleasant tastants were to be delivered. In the App L-S protocol the decrease in ingestion was markedly slower than in the other protocols, thus supporting the hypothesis that the decrease in appetitive behavior arises from the non-contingent intra-oral delivery of hedonically negative tastants like quinine. Although neuronal responses in the three protocols displayed similar variability levels, significant differences existed between the protocols in the way the variability was partitioned between chemosensory and non-chemosensory neurons. While in the 4TW and L-S protocols the former population displayed more changes than the latter, in the App L-S protocol variability was homogeneously distributed between the two populations. We posit that these tuning changes arise, at least in part, from compounds released upon ingestion, and also from differences in areas of the oral cavity that are bathed as the animals ingest or reject the tastants.     

“I don't want to look like an AIDS victim”: A New Zealand case study of facial lipoatrophy

The development of antiretroviral (ARV) drugs to treat HIV has turned what was once a death sentence into a chronic disorder. However, a focus on absence of disease in the form of an undetectable viral load and the dismissal of the so‐called “cosmetic” complications of the disease ignores perceptions of health and well‐being of those living with HIV. Facial lipoatrophy is a stigmatising side effect of treatment for HIV as it betrays the presence of the virus within the body. The study took a longitudinal qualitative approach, interviewing 11 people twice over a period of 1 year on their experience of living with HIV. Two participants were given cameras and asked to take photos which represented what it was like for them to live with this condition and were interviewed four times at four monthly intervals. This paper looks at one man's struggle to conceal or veil his facial lipoatrophy. His story is presented in the form of “selfies” and extracts from in‐depth interviews. It tells of an emotional (ongoing) journey of frustration, anger, excitement, depression and resignation which had a profound effect on his sense of social and psychological well‐being. This suggests a more holistic approach to treating people living with HIV is needed. While an undetectable viral load is indeed vital, it should not be seen as the only essential outcome of treatment.     

Bone defect formation during implant placement following alveolar distraction

PURPOSE: This retrospective study was designed to evaluate the volume of hard tissue generated at the time of implant placement in distracted alveolar bone. MATERIALS AND METHODS: All patients who underwent distraction osteogenesis between 2000 and 2003 were included. The preoperative bone height, amount of distraction performed, and presence or absence of complications affecting implant placement were recorded. The augmentation achieved was correlated with insufficient bone formation using the Spearman correlation and the Fisher exact test. RESULTS: The study included 43 implants placed in 17 cases of alveolar distraction. Of the 34 implants placed in bone augmented by 4.5 to 6.5 mm, bone defects were observed with 12. All 9 implants placed in ridges augmented by 7 to 10.5 mm demonstrated a bone defect. The "defect" and "no-defect" implant groups differed significantly with respect to preoperative bone height and amount of distraction performed (P < .001 for both). Significantly more defects were formed in bone augmented by > 25% compared to bone augmented by < 25% (P < .001). CONCLUSIONS: When considering distraction osteogenesis, augmentation of up to 25% of the initial bone height seems more predictable and less likely to be associated with complications at the time of implant placement. In distractions greater than 25% of the original height, additional treatment should be considered.     

Perioperative Outcomes Following Surgical Resection of Renal Cell Carcinoma with Inferior Vena Cava Thrombus Extending Above the Hepatic Veins: A Contemporary Multicenter Experience

Background

Surgery for renal cell carcinoma (RCC) patients with inferior vena cava (IVC) thrombus above the hepatic veins is technically complex and associated with an increased risk of perioperative morbidity and mortality. However, minimal data exist that describe contemporary perioperative outcomes at major referral centers or the prognostic factors associated with poor outcomes.

Objective

To determine the preoperative predictors of major complications and 90-d mortality after surgery in RCC patients who have IVC thrombus above the hepatic veins.

Design, setting, and participants

We reviewed medical records of all RCC patients who had IVC tumor thrombus above hepatic veins and had had surgery between January 2000 and December 2012 at the Mayo Clinic, M.D. Anderson Cancer Center, University of Texas Southwestern Medical Center, and the University of Wisconsin Hospital.

Outcome measurement and statistical analysis

Major complications recorded were defined as ≥3A according to the Clavien-Dindo system within 90 d of surgery. Univariate and multivariate analyses were used to evaluate associations of preoperative variables with risk of major complications or 90-d mortality.

Results and limitations

A total of 162 patients were identified for study (level 3, 4 in 69, 93 patients, respectively, according to the Neves classification). Cardiopulmonary bypass was used in 60 of 162 patients (37.5%), and 40 patients (24.7%) had preoperative angioembolization. Major complications were reported in 55 patients (34.0%), with the most common being respiratory, cardiac, and hematologic issues. After multivariate analysis, preoperative systemic symptoms and level 4 thrombus were independently associated with increased risk of major complications. Mortality was reported in 17 patients (10.5%) within 90 d after surgery. After multivariate analysis, Eastern Cooperative Oncology Group (ECOG) performance status (PS) and low serum albumin were preoperative factors independently associated with increased risk of 90-d mortality.

Conclusions

Contemporary perioperative mortality and major complication rates for RCC patients who have upper-level thrombus are 10% and 34%, respectively. Patients who have ECOG PS >1 or low serum albumin have increased risk for perioperative mortality.     

Patient involvement in surgical treatment decisions and satisfaction with the treatment results after lumbar intervertebral discectomy

Purpose

To evaluate involvement of patients in surgical treatment decision making (STDM) in relations to satisfaction with the results of lumbar discectomy.

Methods

We evaluated prospectively 150 surgically treated patients with radicular pain due to lumbar disc herniation (LDH). The patients completed self-reported questionnaires about preferences for involvement and actual involvement in STDM. Global satisfaction with the results of the treatment was assessed at 1 year after the operation.

Results

Most of the patients (129 patients, 86 %) stated that they had been sufficiently informed about LDH to be involved in the treatment decisions, almost half of the patients (47 %) preferred active or collaborative involvement and 58 % of the patients reported higher actual involvement in STDM. Congruence between preferred and actual roles in decision making was 64 %. Most of the patients (77 %) were satisfied with the results of the operation, but satisfaction was not associated with involvement of patients in STDM.

Conclusion

A significant proportion of patients with LDH prefer to be actively involved in treatment decisions and experience an STDM process that matches their preferences for participation. However, individual differences in preferences for involvement in STDM are common and global satisfaction with the treatment results is not significantly related to the activity of involvement in STDM.     

NLR is predictive of upstaging at the time of radical cystectomy for patients with urothelial carcinoma of the bladder

ObjectiveTo evaluate the ability of preoperative neutrophil-lymphocyte ratio (NLR) to predict pathologic upstaging and nonorgan-confined (NOC) (≥pT3) disease.Methods and materialsAfter institutional review board approval, the records of consecutive patients undergoing radical cystectomy (RC) for urothelial carcinoma from 2002 to 2012 at the University of Wisconsin Hospital were reviewed. A total of 102 patients with NLR within 100 days of surgery were eligible for analysis. The primary outcome was difference in stage from preoperative assessment to time of RC. Differences in preoperative NLR between groups were evaluated with an unequal variance t test. A univariate analysis assessed whether NLR, preoperative stage, grade, associated lymphovascular invasion, preoperative hydronephrosis, gender, previous pelvic radiotherapy, previous intravesical bladder cancer treatments, or nodal stage were related to upstaging. Multivariate analyses were performed to evaluate the relationship of NLR to upstaging and relative organ-confined (≤pT2) and NOC disease.ResultsOf 390 consecutive patients undergoing RC, 102 patients met study criteria. Overall, 55 (53.9%) patients were upstaged, 25 (25.5%) were unchanged, and 21 (20.6%) were downstaged. Fifty-one patients (50%) were upstaged to more advanced disease (≥pT3). NLR and preoperative hydronephrosis were significantly related to pathologic tumor staging. NLR, preoperative hydronephrosis, and preoperative tumor stage were significantly related to upstaging to NOC disease. Patients who were upstaged to≥pT3 demonstrated statistically significant greater NLRs (4.33±0.87) compared with patients who remained at≤pT2 stage (2.66±0.29) (P<0.001).ConclusionsPreoperative NLR is a simple measurement that can be used to identify high-risk patients who may be upstaged at the time of RC and may benefit from neoadjuvant chemotherapy.     

Surgical Operative Time Increases the Risk of Deep Venous Thrombosis and Pulmonary Embolism in Robotic Prostatectomy

Background and Objectives:

To evaluate the effect of operative time on the risk of symptomatic venous thromboembolic events (VTEs) in patients undergoing robot-assisted radical prostatectomy (RARP).

Methods:

We reviewed the records of all patients at our institution who underwent RARP by a single surgeon from January 2007 until April 2011. Clinical and pathologic information and VTE incidence were recorded for each patient and analyzed by use of logistic regression to evaluate for association with VTE risk. All patients had mechanical prophylaxis, and beginning in February 2008, a single dose of unfractionated heparin, 5000 U, was administered before surgery.

Results:

A total of 549 consecutive patients were identified, with a median follow-up period of 8 months. During the initial 30 days postoperatively, 10 patients (1.8%) had a VTE (deep venous thrombosis in 7 and pulmonary embolism in 3). The median operative time was 177 minutes (range, 121–360 minutes). An increase in operative time of 30 or 60 minutes was associated with 1.6 and 2.8 times increased VTE risks. A 5-point increase in body mass index and need for blood transfusion were also associated with increased risk of VTEs (odds ratios of 2.0 and 11.8, respectively). Heparin prophylaxis was not associated with a significant VTE risk reduction but also was not associated with a significant increase in estimated blood loss (P = .23) or transfusion rate (P = .37).

Conclusion:

A prolonged operative time increases the risk of symptomatic VTEs after RARP. Future studies are needed to evaluate the best VTE prophylactic approach in patients at risk.