A comparative assessment of changes in dental arches associated with different activation protocols of rapid maxillary expansion.

AIM: The aim of this study is to compare dental arch changes associated with different activation protocols of maxillary expander. MATERIALS AND METHODS: A sample of 101 subjects with constricted maxillary arches (49 males and 52 females; mean age 10.96 ± 1.91 years) was enrolled in the study. All subjects underwent RME with a stainless steel banded expander cemented to the maxillary first molars and the expansion screw was randomly activated with two different rapid maxillary expansion protocols (one- quarter per day or two quarters per day). The study also involved a control group of 22 subjects (10 females and 12 males, mean age 10.39 ± 1.32 years) who underwent no treatment. A statistical comparison between the dental arch measures obtained before and after treatment in the two groups was performed. RESULTS: The Wilcoxon rank-sum test shows statistically significant differences of the measurement increases between the two activation protocols (at least p=0.01). Statistically significant differences were also reported in comparison with the control group. CONCLUSIONS: A faster activation protocol could be able to determine a greater anterior opening of the mid-palatal suture. Moreover, it seems to yield a higher width increase in the molar area.

Sagittal dentoskeletal modifications associated with different activation protocols of rapid maxillary expansion.

AIM: The aim of this study is to compare the sagittal dentoskeletal changes associated with different activation protocols of maxillary expander. MATERIALS AND METHODS: A total of 101 subjects with constricted maxillary arches (49 males and 52 females; mean age 10.08 ± 1.57 years) were enrolled in the study. The study comprised also a control group of 20 subjects (11 females and 9 males, mean age 10.27 ± 1.24 years) who were not treated during the observation period. All the subjects underwent rapid maxillary expansion with a stainless steel banded expander cemented to the maxillary first molars. The expansion screw was randomly activated with two different rapid maxillary expansion protocols (one-quarter per day or two-quarters per day). A statistical comparison between the sagittal cephalometric variations obtained in the two expansion groups was made, and compared with the untreated control group. Data were then stratified for skeletal maturation of each subject. RESULTS: The Wilcoxon rank-sum test shows statistically significant differences between the two RME activation protocols only for overjet. Statistically significant differences were reported in comparison with the control group. CONCLUSIONS: This study suggests that the increase in overjet after RME could be associated with faster activation protocols especially in subjects with lower skeletal maturation.

[Do initial experience with an enhanced recovery program after surgery (ERAS) improve postoperative outcomes after cystectomy?] / L'application d'un programme de réhabilitation précoce (ERAS) améliore-t-elle les résultats périopératoires après cystectomie ?

OBJECTIVE: To estimate the feasibility and the impact of an ERAS program after radical cystectomy for bladder cancer. MATERIALS AND METHODS: This was a retrospective study comparing a historical pre ERAS group, including all the patients undergoing cystectomy for bladder cancer from January 2013 to December 2015 with a classic procedure, and an interventional ERAS group after introducing an enhanced recovery protocol before, during and after surgery, from February 2016. The principal outcome was the postoperative length of stay. Secondary outcomes mesures were impact on perioperative complication rate (Clavien classification≥3B), readmission rate, reanimation length of stay, ileus rate and adherence to the ERAS protocol. RESULTS: There were no differences between the 2 groups as far as demographics characteristics are concerned. In total, 97 patients were included, 56 in the control group, and 41 in the ERAS group. The adherence to the protocol was about 65.8%. The ERAS group had statistically significantly shorter median length of stay (D19 versus D14; P: 0.021). The major complications rate (Clavien≥3B) were about 23.2% for the control group and 12.1% for the ERAS group (P: NS). The reinsertion of nasogastric tube were higher in the control group (39.3% vs 21.9%; P: NS) and the readmission rate was about 7.1% in the control group versus 14.6% in the ERAS group (P: NS). CONCLUSION: In conclusion, introduction and application of an enhanced recovery protocol (ERAS) after cystectomy for bladder cancer allowed for better management of postoperative outcomes. It is clearly feasible in cystectomy, and improve significantly the median postoperative length of stay. Moreover, it may be effective in terms of faster return of bowel function and reduction of majors complications. LEVEL OF EVIDENCE: 4.

Patient-reported long-term sexual outcomes following plication surgery for penile curvature: A retrospective 58-patient study.

OBJECTIVE: To evaluate long-term sexual function results following plication surgery for the correction of penile curvature using patient questionnaires. METHODS: We performed a single-center, retrospective study in a cohort of patients with Peyronie's disease or congenital penile curvature. All patients who underwent plication surgery on the convex aspect using the Nesbit, Yachia or diamond-shaped techniques were included. At a mean 34 months after the interventions, the patients were asked to respond to the IIEF5 questionnaire and a 19-item questionnaire. RESULTS: Forty-six patients operated for Peyronie's disease and 12 for congenital curvature (total: 58) were included in the study. The questionnaire response rate was 69% (40/58). The shortened penis bothered 47.5% of patients in their sexuality at least regularly. Involuntary exit from the vagina occurred for 35% of the patients in at least one out of two sexual intercourse sessions. Postoperative sexual life was as good as or better than preoperative sexual life for 35% of the patients and 95% stated that they could achieve erection at least sometimes, in coherence with the mean IIEF5 result of 19.3/25. CONCLUSION: Our study suggests that even when successful, a relatively high rate of patients may be unsatisfied with the results of plication surgery, and there may be a relatively low rate of maintenance or improvement of postoperative sexual life. Furthermore, our in-house questionnaire, although not validated, shed light on how bothersome the loss of penis length is in postoperative sexuality, an aspect the IIEF5 and its sole evaluation of erectile quality cannot detect. LEVEL OF EVIDENCE: 4.

Hospital discharge instructions: comprehension and compliance among older adults.

BACKGROUND: Little is known regarding the prevalence or risk factors for non-comprehension and non-compliance with discharge instructions among older adults. OBJECTIVE: To quantify the prevalence of non-comprehension and non-compliance with discharge instructions and to identify associated patient characteristics. RESEARCH DESIGN: Prospective cohort study. SUBJECTS: Four hundred and fifty adults aged ≥ 65 admitted to medical and surgical units of a tertiary care facility and meeting inclusion criteria. MEASURES: We collected information on demographics, psycho-social factors, discharge diagnoses, and medications using surveys and patient medical records. Domains within discharge instructions included medications, follow-up appointments, diet, and exercise. At 5 days post-discharge, we assessed comprehension by asking patients about their discharge instructions, and compared responses to written instructions from medical charts. We assessed compliance among patients who understood their instructions. RESULTS: Prevalence of non-comprehension was 5 % for follow-up appointments, 27 % for medications, 48 % for exercise and 50 % for diet recommendations. Age was associated with non-comprehension of medication [odds ratio (OR) 1.07; 95 % confidence interval (CI) 1.04, 1.12] and follow-up appointment (OR 1.08; 95 % CI 1.00, 1.17) instructions. Male sex was associated with non-comprehension of diet instructions (OR 1.91; 95 % CI 1.10, 3.31). Social isolation was associated with non-comprehension of exercise instructions (OR 9.42; 95 % CI 1.50, 59.11) Depression was associated with non-compliance with medication (OR 2.29; 95 % CI 1.02, 5.10) and diet instructions (OR 3.30; 95 % CI 1.24, 8.83). CONCLUSIONS: Non-comprehension of discharge instructions among older adults is prevalent, multi-factorial, and varies by domain.

New constraint on the existence of the µ+ → e+ γ decay.

The analysis of a combined data set, totaling 3.6 × 10(14) stopped muons on target, in the search for the lepton flavor violating decay µ(+) → e(+)γ is presented. The data collected by the MEG experiment at the Paul Scherrer Institut show no excess of events compared to background expectations and yield a new upper limit on the branching ratio of this decay of 5.7 × 10(-13) (90% confidence level). This represents a four times more stringent limit than the previous world best limit set by MEG.

Selection of a human chromosome 21 enriched YAC sub-library using a chromosome-specific composite probe.

The subdivision of total genomic human yeast artificial chromosome (YAC) libraries into specific chromosome clone collections will greatly facilitate the construction of an integrated genetic, physical and transcriptional map of the genome. We report the isolation of 388 YAC clones from a human library with an average insert size of 620 kilobases (kb) by the hybridization of a composite chromosome 21 probe to a high-density array of YAC clones. Roughly half of these clones hybridize to chromosome 21 by fluorescence in situ hybridization. These clones represent a twofold coverage of the chromosome. The technique offers the potential of sub-dividing whole genomic YAC libraries into their chromosomal elements to produce high-resolution tools for genome mapping.

Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia.

Cleidocranial dysplasia (CCD) is an autosomal dominant disorder characterized by hypoplastic or absent clavicles, large fontanelles, dental anomalies and delayed skeletal development. The phenotype is suggestive of a generalized defect in ossification and is one of the most common skeletal dysplasias not associated with disproportionate stature. To date, no genetic determinants of ossification have been identified. CCD has been mapped to chromosome 6p21, where CBFA1, a gene encoding OSF2/CBFA1, a transcriptional activator of osteoblast differentiation, has been localized. Here, we describe two de novo missense mutations, Met175Arg and Ser191Asn, in the OSF2/CBFA1 gene in two patients with CCD. These two mutations result in substitution of highly conserved amino acids in the DNA-binding domain. DNA-binding studies with the mutant polypeptides show that these amino acid substitutions abolish the DNA-binding ability of OSF2/CBFA1 to its known target sequence. Concurrent studies show that heterozygous nonsense mutations in OSF2/CBFA1 also result in CCD, while mice homozygous for the osf2/cbfa1 mull allele exhibit a more severe lethal phenotype. Thus, these results together suggest that CCD is produced by haploinsufficiency of OSF2/CBFA1 and provide direct genetic evidence that the phenotype is secondary to an alteration of osteoblast differentiation.

Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome.

The LIM-homeodomain protein Lmx1b plays a central role in dorso-ventral patterning of the vertebrate limb. Targeted disruption of Lmx1b results in skeletal defects including hypoplastic nails, absent patellae and a unique form of renal dysplasia (see accompanying manuscript by H. Chen et al.; ref. 2). These features are reminiscent of the dominantly inherited skeletal malformation nail patella syndrome (NPS). We show that LMX1B maps to the NPS locus and that three independent NPS patients carry de novo heterozygous mutations in this gene. Functional studies show that one of these mutations disrupts sequence-specific DNA binding, while the other two mutations result in premature termination of translation. These data demonstrate a unique role for LMX1B in renal development and in patterning of the skeletal system, and suggest that alteration of Lmx1b/LMX1B function in mice and humans results in similar phenotypes. Furthermore, we provide evidence for the first described mutations in a LIM-homeodomain protein which account for an inherited form of abnormal skeletal patterning and renal failure.

Frailty and Aging in HIV- Status Post 13 Years of National Awareness.

The People aged 50 years and above comprise over 50% of people living with HIV (PLWH) in the US. Despite the advances made with anti-retroviral therapy in increasing their life span, PLWH are plagued with non-AIDS associated conditions which increase their risk for morbidity and mortality. Frailty, a decline in physical and functional reserve, is one of the manifestations of aging, has a prevalence of 5-30%, and occurs up to 2 decades earlier in people aging with HIV (PAWH). The majority of providers for PAWH have minimal experience with the concept of gerontology, frailty, and aging. Hence, there is a gap in clinicians' knowledge on how to address frailty and aging in PAWH. This review will focus on the clinical interventions that mitigate frailty and aging in PAWH as well as highlight areas of investigation towards achieving these mediations. Beyond the identification of the roles of exercise and nutrition, more studies are needed on the pragmatic approach to apply these resources to routine care. There should be continued reinforcement of the proven strategy of combination antiretroviral therapy as well as treatment of co-infections and age-appropriate health and cancer screening in PAWH.

Psychogenic seizures and psychogenic movement disorders: are they the same patients?

Psychogenic nonepileptic seizures (PNES) and psychogenic movement disorders (PMD) are common and disabling problems with abnormal psychological profiles, and they may have common features that could aid in better understanding and management. Since PNES and PMD are investigated and reported separately, comparisons are lacking. Psychogenic nonepileptic seizure and psychogenic movement disorder patients completed demographic, clinical, and psychological inventories including the Short Form (SF)-12 Health Status Survey (Physical and Mental Health Summary Scores), the Brief Symptom Inventory (BSI)-18 (somatization, depression, and anxiety subscales), and the Lorig Self-Efficacy Scale. Psychogenic nonepileptic seizure and psychogenic movement disorder patients had similar psychological profiles with reduced SF-12 Physical Health and Mental Health Summary Scores and increased BSI somatization, depression, and anxiety ratings. They varied slightly in age and gender, but their main distinguishing features were the presenting signs. These similar profiles suggest that PNES and PMD may not be distinct or separate entities and that collaborative investigative efforts and management are warranted.

Injuries in Youth and National Combined Events Championships.

In major track and field competitions, the most risky discipline is the combined event. Therefore, we aimed to record and analyze the incidence and characteristics of sports injuries incurred during the Youth and National Combined Events Championships. During the French Athletics Combined Events Championships in 2010, all newly occurred injuries were prospectively recorded by the local organising committee of physicians and physiotherapists working in the medical centres at the stadium, in order to determine incidence and characteristics of newly occurred injuries. In total, 51 injuries and 9 time-loss injuries were reported among 107 registered athletes, resulting in an incidence of 477 injuries and 84 time-loss injuries per 1,000 registered athletes. Approximately 72% of injuries affected lower limbs and 60% were caused by overuse. Thigh strain (17.6%) was the most common diagnosis. 14 dropouts were recorded, 8 were caused by an injury (57.1%). During the National and Youth Combined Events Championships, over one third of the registered athletes incurred an injury, with an injury incidence higher than in international elite track and field competitions. Interestingly, this higher injury risk concerned the younger population affecting immature musculoskeletal structures. In combined events, preventive interventions should mainly focus on overuse and thigh injuries.

New limit on the lepton-flavor-violating decay µ+→e+γ.

We present a new result based on an analysis of the data collected by the MEG detector at the Paul Scherrer Institut in 2009 and 2010, in search of the lepton-flavor-violating decay µ(+)e(+)γ. The likelihood analysis of the combined data sample, which corresponds to a total of 1.8×10(14) muon decays, gives a 90% C.L. upper limit of 2.4×10(-12) on the branching ratio of the µ(+)→e(+)γ decay, constituting the most stringent limit on the existence of this decay to date.

Risk for cardiovascular events in an Italian population of patients with type 2 diabetes.

BACKGROUND AND AIM: This study aims to analyse the risk of cardiovascular events in a local cohort of patients with type 2 diabetes, and to evaluate the prognostic accuracy of four algorithms used to estimate cardiovascular risk: the Framingham study, United Kingdom Prospective Diabetes Study (UKPDS), Riskard study and Progetto Cuore. METHOD AND RESULTS: We analysed clinical charts of the Diabetes Clinics of Modena for the period 1991-95. Patients in the age range of 35-65 with type 2 diabetes and no previous cardiovascular disease were eligible. The incidence of new cardiovascular disease was compared with estimated rates deriving from the different functions. A stratification was obtained in subgroups at different cardiovascular risk, allowing comparison between the algorithms. A total of 1532 patients were eligible; women presented a worse cardiovascular risk profile. An absolute 10-year rate of cardiovascular events of 14.9% was observed. Comparing patients with events with event-free subjects, we found significant differences in systolic blood pressure, age at visit, smoking, high-density lipoprotein (HDL)-cholesterol, duration of diabetes, glycosylated haemoglobin (HbA1c) and co-morbidities. Comparing the estimated risk rate according to the different functions, Italian algorithms were more consistent with observed data; however, Progetto Cuore and Riskard show underestimation of events when applied to females. CONCLUSIONS: Estimation of cardiovascular risk is dependent on the algorithm adopted and on the baseline risk of the reference cohort. Functions designed for a specific population, including risk variables peculiar for diabetes, should be adopted to increase the performance of such functions which is clearly unsatisfactory at present.

The inconsistency and instability of Parkinson's disease motor subtypes.

INTRODUCTION: Tremor-dominant (TD), indeterminate/mixed (ID/M) and postural instability gait difficulty/akinetic-rigid (PIGD/AR) are commonly used subtypes to categorize Parkinson's disease (PD) patients based on their most prominent motor signs. Three different algorithms to determine these motor subtypes are used. Here, we examined if PD subtypes are consistent among algorithms and if subtype stability over time depends on the applied algorithm. METHODS: Using a large longitudinal PD database, we applied 3 published algorithms of PD motor subtype classification in two sets of analyses: 1) cross-sectional analysis in 1185 patients, determining the prevalence of subtypes in 5-year intervals of disease duration; 2) longitudinal analysis of 178 patients, comparing subtypes of individual patients at baseline (within 5 years of diagnosis) and at follow-up ≥ 5 years after baseline. RESULTS: Cross-sectionally, prevalence of subtypes varied widely among the 3 algorithms: 5-32% TD, 9-31% ID/M, and 59-75% PIGD/AR. For all 3 algorithms, cross-sectional analysis showed a marked decline of TD prevalence with disease duration and a corresponding increase in PIGD/AR prevalence, driven by increasing gait/balance scores over time. Longitudinally, only 15-36% of baseline TD patients were still categorized as TD at 6.2 ± 1.0 years of follow-up. In 15-39% of baseline TD patients, the subtype changed to ID/M, and 46-50% changed to PIGD/AR. This shift was observed using all 3 algorithms. CONCLUSION: PD motor subtypes determined by different established algorithms are inconsistent and unstable over time. Lack of subtype fidelity should be considered when interpreting biomarker-subtype correlation and highlights the need for better definition of PD subtypes.

Analysis of errors in following the rapid maxillary expansion activation protocol: An observational study.

AIM: The aim of this study is to analyse the correspondence between the reported number of activations and the number of prescribed activations. MATERIALS AND METHODS: A total of 114 subjects with constricted maxillary arches (58 males, 56 females; mean age 10.26 ± 1.92 years) were enrolled in the study. The subjects underwent RME and all the parents were provided with a screw activations report form in order to remind them the number of prescribed activations. At the removal of the expander, the screw was turned back in order to count the effective number of activations applied. RESULTS: In 46 cases, out of a total of 114 patients, an involuntary error during the activation procedure was presumably made. A slight statistically significant correlation between the number of activations prescribed, and the number of incorrect activations was found. The errors consisted in added or missed activations, compared to the prescribed number but more frequently in missed activations with statistical significance. CONCLUSION: Errors in following the rapid palatal expansion activation protocol are not uncommon. These errors could consist in missed or added activations to the number prescribed by the orthodontist, more often in missed ctivations.

A new mechanism of dominance in hypophosphatasia: the mutated protein can disturb the cell localization of the wild-type protein.

The dominant negative effect of mutations is rare in metabolic diseases and its mechanism has not been studied much. Hypophosphatasia, a bone inherited metabolic disorder, is a good model because the disease can be dominantly transmitted. The gene product activity depends on a homodimeric configuration and many mutations have been reported in the ALPL gene responsible for the disease. Using CFP/YFP-tagged-TNSALP plasmids, transfections in COS cells and confocal fluorescence analyses, we studied the point mutation G232V (c.746G>T). We showed that the G232V protein sequestrates some of the wild-type protein into the cells and prevents it from reaching the membrane where it plays its physiological role.

Pancreas transplantation inside Emilia-Romagna, Italy: referral pattern, demand forecasting, and organ availability.

In Italy, referral of diabetic patients for pancreas transplantation (PT) is an unstructured process, resulting in a low rate of activity and late referrals, often when the patient has already undergone dialysis. In addition, the continuous improvement in pancreas transplant alone, offering the opportunity to reduce cardiovascular risk due to proteinuria and reduced glomerular filtration rate (GFR), is rarely appreciated. We therefore analyzed (1) referral activity to PT during the time frame 2001-2005 in Emilia-Romagna, Italy (four million inhabitants), by collecting ICD 9 CM codes (55.69 + 52.80; 52.86 and 52.80 alone) by residence of the patient; (2) demand for PT among a sample population of 1670 diabetes patients, whose charts were reviewed for the type of diabetes and presence of overt diabetic nephropathy (DN: proteinuria >300 mg/24 h and/or GFR <60 mL/min); (3) potential pancreas availability as the ratio between pancreas and hearts utilized (UP/HR) in different areas of our country. As a results, (1) referral activity reached 8.4 PT per million people in 5 years in the whole region, ranging from 2.6 in the province where a PT program is active, to a maximum value of 20.7 in the province where a devoted outpatient clinic is operated by nephrologists. (2) Prevalence of overt DN was 6% in our cohort, corresponding to 510 D1 patients worthy of evaluation for PT inside Emilia-Romagna region. (3) During 2006, UP/HR was 0.58 in Associazione Inter-Regionale Trapianti agency, 1.16 in Tuscany, 0.30 in Piedmont, and 0.26 in our region. Taken together, our data showed that (1) the referral of D1 to PT has to be empowered, keeping in touch with all patients suffering from diabetic nephropathy; (2) the outpatient clinic devoted to evaluation and recruitment of D1 with nephropathy plays the key role in this program of timely and widespread referral; (3) the availability of pancreata can be increased by utilizing broader criteria for harvesting, increased consent rate to donation and increased the demand for PT (recipient pool). Pancreas grafts need to increase, since the current low demand produces underutilization of the pancreas resource, due to the frequent lack of a suitable recipient.