Miracle-dz/UniFAR-FTUs huggingface dataset:
Evidence for smaller probabilities for trisomic mosaicism for acrocentric than for nonacrocentric chromosomes.

To the Editor: In a recent paper by one ofus [1], it was pointed out that there is a large discrepancy between the estimates of prenatal and live-birth incidences of mosaic trisomy. Estimates of the former incidence range from 6%-33% with several observations about 10%, while estimates of the latter incidence amount to 1%-2% and are mainly based on trisomy 21 data. To explain this discrepancy, different possibilities were considered. It was briefly mentioned that the probability for mosaicism might not be constant in each chromosome and might be lower for those trisomies, like chromosome 21, which were often viable until term. Little evidence was found for or against such an explanation. We will again consider the possibility that each chromosome has its own probability for mosaicism. Since it seems unlikely that mosaic trisomies are more likely to abort than are nonmosaic trisomies, the proportion of mosaics for a certain trisomy is unlikely to decrease. A low proportion of mosaics for a certain trisomy at a late stage in gestation or among live births will, therefore, indicate that the probability for mosaicism is low for this trisomy. Because of the morphological and functional differences between acrocentric and nonacrocentric chromosomes, the probabilities for mosaicism might be different for these two groups of chromosomes. The low proportion of mosaics among live-born 21 trisomies may be a reflection of the fact that the probability for mosaics is lower among acrocentric than among nonacrocentric chromosomes. In the data presented in [1], we have found some support for this explanation. Among the spontaneous abortions, 76 trisomies for nonacrocentric chromosomes were observed, 10 of which are mosaics, while among 27 trisomies for acrocentric chromosomes, no mosaics at all were found. In these data, there are significantly too few mosaics among trisomies for acrocentric chromosomes (P = .04) with the one-sided alternative indicated above. The study has continued, and so far 175 trisomies for nonacrocentric chromosomes have been found, 19 of which are mosaics, while among 79 trisomies for acrocentric chromosomes, only a single mosaic has been observed. The probability for this and a more deviating result is
Promotion and prelacteal feeding of breastmilk substitutes among mothers in Kathmandu Valley, Nepal

Abstract In 1992, Nepal passed the Mother's Milk Substitutes (Control of Sale and Distribution) Act in order to regulate the sale, distribution and promotion of substitutes for breastmilk within Nepal, in an effort to protect and promote breastfeeding. Helen Keller International, in collaboration with Nepal's Ministry of Health and Population's Child Health Division, implemented a study to assess mothers' exposure to promotions for and utilization of breastmilk substitutes in Kathmandu Valley, Nepal. A health facility‐based, cross‐sectional survey was conducted among 304 mothers being discharged after delivery. Prelacteal feeding of breastmilk substitutes is prevalent (55.9% of mothers, n = 170). Reported recommendations during antenatal checks and after delivery from health professionals to use breastmilk substitutes were prevalent, occurring among 47.4% (n = 144) of mothers; rates of these recommendations were significantly higher for mothers that delivered in private health facilities, as compared with public (67.7% vs. 38.0%, P < 0.001). Mothers that received a recommendation to use a breastmilk substitute from a health worker were 16.7 times more likely to provide a prelacteal feed of a breastmilk substitute, as compared with mothers that did not receive a recommendation (P < 0.001). Few mothers reported observation of commercial advertisements for breastmilk substitutes inside a health facility (reported by 3.6% of mothers). No mothers reported receiving a sample of a breastmilk substitute, bottle or teat from a health professional. More information is needed to determine why there is such a high rate of health worker recommendations for breastmilk substitute use in the first few days after delivery. Key messages While utilization of breastmilk substitutes is low among mothers of young children in Nepal, prelacteal feeding of breastmilk substitutes is highly prevalent in Kathmandu Valley. Reported recommendations from health professionals to use breastmilk substitutes are common (over 40%) and are associated with prelacteal feeding among Nepal mothers included in this study. Provision of lactation management training to health workers and monitoring their practices regularly could strengthen breastfeeding counselling, aid in reducing high rates of prelacteal feeding and contribute to improved infant feeding practices.
Do subthreshold psychotic experiences predict clinical outcomes in unselected non-help-seeking population-based samples? A systematic review and meta-analysis, enriched with new results

Background The base rate of transition from subthreshold psychotic experiences (the exposure) to clinical psychotic disorder (the outcome) in unselected, representative and non-help-seeking population-based samples is unknown. Method A systematic review and meta-analysis was conducted of representative, longitudinal population-based cohorts with baseline assessment of subthreshold psychotic experiences and follow-up assessment of psychotic and non-psychotic clinical outcomes. Results Six cohorts were identified with a 3–24-year follow-up of baseline subthreshold self-reported psychotic experiences. The yearly risk of conversion to a clinical psychotic outcome in exposed individuals (0.56%) was 3.5 times higher than for individuals without psychotic experiences (0.16%) and there was meta-analytic evidence of dose–response with severity/persistence of psychotic experiences. Individual studies also suggest a role for motivational impairment and social dysfunction. The evidence for conversion to non-psychotic outcome was weaker, although findings were similar in direction. Conclusions Subthreshold self-reported psychotic experiences in epidemiological non-help-seeking samples index psychometric risk for psychotic disorder, with strong modifier effects of severity/persistence. These data can serve as the population reference for selected and variable samples of help-seeking individuals at ultra-high risk, for whom much higher transition rates have been indicated.
Stability and transitions of depressive subtypes over a 2-year follow-up

Background Identifying depressive subtypes is an important tool in reducing the heterogeneity of major depressive disorder. However, few studies have examined the stability of putative subtypes of depression over time. Method The sample included 488 persons from the Netherlands Study of Depression and Anxiety (NESDA) who had major depressive disorder at baseline and at the 2-year follow-up assessment. A latent transition analysis (LTA) was applied to examine the stability of depressive subtypes across time-points. Differences in demographic, clinical, psychosocial and health correlates between subtypes were evaluated in a subsample of persons with stable subtypes. Results Three subtypes were identified at each time-point: a moderate subtype (prevalence T0 39%, T1 42%), a severe typical subtype (T0 30%, T1 25%), and a severe atypical subtype (T0 31%, T1 34%). The LTA showed 76% stability across the 2-year follow-up, with the greatest stability in the severe atypical class (79%). Analyses of correlates in the stable subtypes showed a predominance of women and more overweight and obesity in the severe atypical subtype, and a greater number of negative life events and higher neuroticism and functioning scores in the severe typical subtype. Conclusions Subtypes of major depressive disorder were found to be stable across a 2-year follow-up and to have distinct determinants, supporting the notion that the identified subtypes are clinically meaningful.
Virtual Reality–Augmented Neurorehabilitation Improves Motor Function and Reduces Neuropathic Pain in Patients With Incomplete Spinal Cord Injury

Background. Neurorehabilitation interventions to improve lower limb function and neuropathic pain have had limited success in people with chronic, incomplete spinal cord injury (iSCI). Objective. We hypothesized that intense virtual reality (VR)–augmented training of observed and executed leg movements would improve limb function and neuropathic pain. Methods. Patients used a VR system with a first-person view of virtual lower limbs, controlled via movement sensors fitted to the patient’s own shoes. Four tasks were used to deliver intensive training of individual muscles (tibialis anterior, quadriceps, leg ad-/abductors). The tasks engaged motivation through feedback of task success. Fourteen chronic iSCI patients were treated over 4 weeks in 16 to 20 sessions of 45 minutes. Outcome measures were 10 Meter Walking Test, Berg Balance Scale, Lower Extremity Motor Score, Spinal Cord Independence Measure, Locomotion and Neuropathic Pain Scale (NPS), obtained at the start and at 4 to 6 weeks before intervention. Results. In addition to positive changes reported by the patients (Patients’ Global Impression of Change), measures of walking capacity, balance, and strength revealed improvements in lower limb function. Intensity and unpleasantness of neuropathic pain in half of the affected participants were reduced on the NPS test. Overall findings remained stable 12 to 16 weeks after termination of the training. Conclusions. In a pretest/posttest, uncontrolled design, VR-augmented training was associated with improvements in motor function and neuropathic pain in persons with chronic iSCI, several of which reached the level of a minimal clinically important change. A controlled trial is needed to compare this intervention to active training alone or in combination.
Improved survivorship of hybrid metal-on-metal hip resurfacing with second-generation techniques for Crowe-I and II developmental dysplasia of the hip.

BACKGROUND The purpose of this study was to determine the influence of improved femoral fixation techniques on the survivorship of metal-on-metal total hip resurfacing prostheses in patients with developmental dysplasia of the hip and to report the long-term results of our patients managed earlier with first-generation fixation techniques. METHODS One hundred and three hips (ninety patients) were resurfaced for osteoarthritis secondary to developmental dysplasia. The mean age of the patients was forty-seven years, and 77% were women. Most hips (94%) were Crowe class I, but 43% had femoral head defects of >1 cm in size. The clinical results of these hips were compared with those of a group of patients with other etiologies, largely dominated by idiopathic osteoarthritis (78%). RESULTS All clinical scores improved significantly (p < 0.0001) and were comparable with those of patients with other etiologies except for the postoperative activity scores, which were lower (7.0 compared with 7.5). Range of motion was greater for the patients with dysplasia than for the patients with other etiologies. Seven hips that were resurfaced with the first-generation femoral fixation techniques and one hip that was resurfaced with the second and third-generation techniques had conversion to total hip arthroplasty. This difference was found to be significant (p = 0.032) in a multivariate, time-dependent analysis after adjustment for other covariates known to affect prosthetic survival. There was no loosening of the acetabular component in this series. CONCLUSIONS The current improvements in the short-term to midterm results after resurfacing in patients with developmental dysplasia of the hip in whom more current techniques were used are encouraging and allow for greater expectations regarding the elimination of short-term failures and improved long-term durability of resurfacing in this population.
Shoot damage effects on regeneration of maples (Acer) across an understorey‐gap microenvironmental gradient

1 We measured whole‐plant survival, frequency of leader (mainstem terminal bud) damage among survivors and growth responses of intact and damaged juveniles of three Acer species over 3 years along a microenvironmental gradient represented by the understorey and two sizes of artificially created canopy gaps in central Massachusetts, United States of America. 2 For all species combined, survival decreased while the frequency of leader damage among survivors increased across the gradient of microsite exposure. Acer rubrum L. (red maple) showed the highest survival (65–93%) but also very high leader damage (80–97%). Acer pensylvanicum L. (striped maple) showed fairly high survival (81–93%) in all but the most exposed microsites (24–36%) and had the lowest leader damage overall (17–44%). Acer saccharum Marsh. (sugar maple) was intermediate for both survival (25–86%) and leader damage (55–96%). 3 Growth differed significantly among sites and species. Both intact and damaged plants showed greater growth in gaps than in understorey, particularly in large gaps. For most growth variables in most microsites, A. pensylvanicum ≥ A. rubrum > A. saccharum when plants were intact, but A. rubrum ≥ A. pensylvanicum > A. saccharum when damaged. Species differences in growth varied among sites, with large gaps producing more pronounced effects than small gaps and understorey for both intact and damaged plants. 4 Growth recovery was inversely related to leader damage frequency among species, and thus at least partially offset the effects of damage on net growth across the populations. 5 The microsite‐ and species‐specific responses to leader damage may influence gap regeneration and forest composition. A. pensylvanicum may be favoured by its regrowth advantage over A. rubrum and A. saccharum in the understorey, where damage is likely to occur during prolonged pre‐gap periods. In contrast, A. rubrum shows a decisive advantage over its congeners in regrowth in the centres of large gaps, where the probability of a juvenile tree capturing canopy gap space is highest.
Role of sport medicine professionals in addressing psychosocial aspects of sport-injury rehabilitation: professional athletes' views.

CONTEXT Research from the sport medicine professional's (SMP's) perspective indicates that SMPs are often required to address psychosocial aspects of injuries during treatment. However, only a few authors have investigated injured athletes' experiences with these concerns. OBJECTIVE To explore injured professional athletes' views on the role of SMPs in the psychosocial aspects of sport-injury rehabilitation. Design : Qualitative study. SETTING Professional association football and rugby union clubs. PATIENTS OR OTHER PARTICIPANTS Ten professional, male football (n = 4; 40%) and rugby union (n = 6; 60%) players (age = 22.4 ± 3.4 years). Data Collection and Analysis : We collected data using a semistructured interview guide, and the data were then transcribed and analyzed following the interpretative phenomenological analysis guidelines. We peer reviewed and triangulated the established emergent themes to establish trustworthiness. RESULTS Athletes in our study viewed injuries as "part and parcel" of their sports. Despite normalizing sport injuries, athletes reported frequent feelings of frustration and self-doubt throughout the rehabilitation process. However, athletes' perceived the role of SMPs in injury rehabilitation as addressing physical concerns; any intervention aimed at psychosocial outcomes (eg, motivation, confidence) needed to be subtle and indirect. CONCLUSIONS The SMPs working with injured athletes need to understand the psychosocial principles that underpin athletes' sport-injury processes and the effect psychosocial reactions can have on athletes. Moreover, SMPs must understand the self-regulatory processes that may take place throughout injury rehabilitation and be able to apply psychological principles in natural and subtle ways to aid athletes' self-regulatory abilities.
Note: A Reply to "New Product Diffusion Decisions Under Supply Constraints"

In our prior work on product diffusions in presence of a capacity constraint, we postulated that a firm operating in such an environment should always attempt to fulfill as much of the present demand as is possible with the capacity constraint. In other words, the firm would never have demand backlogged while accumulating inventory. In this note, we derive a sufficient condition for the optimality of such fulfillment policy. This paper was accepted by Candace A. Yano, operations management.
Model for the Determination of Instantaneous Values of the Velocity, Instantaneous, and Average Acceleration for 100-m Sprinters

Abstract Janjić, NJ, Kapor, DV, Doder, DV, Doder, RŽ, and Savić, BV. Model for the determination of instantaneous values of the velocity, instantaneous, and average acceleration for 100-m sprinters. J Strength Cond Res 28(12): 3432–3439, 2014—Temporal patterns of running velocity is of profound interest for coaches and researchers involved in sprint racing. In this study, we applied a nonhomogeneous differential equation for the motion with resistance force proportional to the velocity for the determination of the instantaneous velocity and instantaneous and average acceleration in the sprinter discipline at 100 m. Results obtained for the instantaneous velocity in this study using the presented model indicate good agreement with values measured directly, which is a good verification of the proposed procedure. To perform a comprehensive analysis of the applicability of the results obtained, the harmonic canon of running for the 100-m sprint discipline was formed. Using the data obtained by the measurement of split times for segments of 100-m run of the sprinters K. Lewis (1988), M. Green (2001), and U. Bolt (2009), the method described yielded results that enable comparative analysis of the kinematical parameters for each sprinter. Further treatment allowed the derivation of the ideal harmonic velocity canon of running, which can be helpful to any coach in evaluating the results achieved at particular distances in this and other disciplines. The method described can be applied for the analysis of any race.
TRPA1 expression is downregulated by dexamethasone and aurothiomalate in human chondrocytes: TRPA1 as a novel factor and drug target in arthritis

### Key messages #### What is already known about this subject? #### What does this study add? #### How might this impact on clinical practice? Transient receptor potential ankyrin 1 (TRPA1) is a ligand-gated membrane-bound cation channel. TRPA1 has been largely studied in neurons, where it mediates pain and neurogenic inflammation and acts as a chemosensor for harmful exogenous compounds.1 2 More recently, TRPA1 has been found to be activated also by endogenous compounds formed in inflammatory conditions characteristic to arthritis, such as reactive oxygen and nitrogen species.3 We have recently discovered that TRPA1 is functionally expressed in primary human osteoarthritic chondrocytes,4 where it upregulated the production of mediators related to arthritis: interleukin (IL)-6, prostaglandin E2 and matrix metalloproteinases 1, 3 and 13.4 Furthermore, we showed in monosodium iodoacetate-induced experimental arthritis that TRPA1 activation mediates inflammation, cartilage degradation and …
Awake craniotomy: A qualitative review and future challenges

Neurosurgery in awake patients incorporates newer technologies that require the anesthesiologists to update their skills and evolve their methodologies. They need effective communication skills and knowledge of selecting the right anesthetic drugs to ensure adequate analgesia, akinesia, along with patient satisfaction with the anesthetic conduct throughout the procedure. The challenge of providing adequate anesthetic care to an awake patient for intracranial surgery requires more than routine vigilance about anesthetic management.
Plasma kinetics of procarbazine and azo-procarbazine in humans

The plasma kinetics of procarbazine (PCB) and its major metabolite azo-procarbazine (azo-PCB) were systematically investigated in humans for the first time. Eight therapy-refractory tumor patients with normal liver and renal function were given a single oral dose of 300 mg PCB hydrochloride as a drinking solution under fasting conditions. With the exception of the single i.v. administration of 10 mg ondansetron hydrochloride immediately before the administration of PCB, the patients were free of any co-medication 4 weeks before and during the study. PCB and azo-PCB were determined by a specially developed HPLC-UV method. PCB was absorbed very rapidly. Mean maximum plasma concentration was 12.5 min. A high elimination rate of PCB from plasma was found. The mean apparent oral systemic clearance and the plasma elimination half-life were estimated at 35.8 l/min and 9.2 min, respectively. Considerable amounts of azo-PCB are found in the plasma of the eight tumor patients. The mean Cmax and AUC ratios of azo-PCB/PCB were estimated at 5.5 and 45.2. Azo-PCB is formed very rapidly from PCB, but eliminated much more slowly from plasma than PCB. Considerable interindividual differences in the conversion rate of azo-PCB to its further metabolites were observed which should have consequences for the individual tumor therapeutic efficiency of PCB. No toxic side-effects or symptoms such as nausea or vomiting were observed during the entire study.
Nurse practitioners in Taiwan: Today and tomorrow

Purpose: To describe the barriers that nurse practitioners (NPs) face and their hopes for the future. Data sources: The study used a qualitative research design, with 10 certified NPs who were recruited through convenience sampling. Data were collected through a face‐to‐face semi‐structured interview, and content analysis was used to analyze the data. Conclusions: NPs in Taiwan are challenged by a number of barriers; however, they remain positive that their circumstances will improve. Implications for practice: The results of this study suggest that there is a need for better communication between policymakers and NPs. Additionally, as recommended by the International Council of Nursing, there is a need for NPs to earn a master's degree and to have formal training prior to beginning work as an NP. Furthermore, to evaluate the NPs’ performance, outcome studies need to be conducted. Implementing such recommendations should enable NPs to earn the respect and support of healthcare professionals and administrators.
Electromyography and biopsy correlation with suggested protocol for evaluation of the floppy infant

Eighty infants with nonarthrogrypotic floppy infant syndrome (FIS) were evaluated between 1979 and 1990. Electromyographic data were correlated with results of muscle and nerve biopsies in 41 of 80 who had concomitant biopsies (38) or other diagnostic analyses (3). A diagnosis was made of Werdnig–Hoffmann disease (WHD) in 15, a congenital infantile polyneuropathy (IPN) in 3, neuromuscular transmission defect (NMTD) in 2, myopathy in 12, and presumed “central” hypotonia in 9. A very positive correlation rate between nerve conduction studies with electromyography and biopsy results was found in 93% (14 of 15) with WHD and 100% in IPN (3 of 3). However, only 4 of 10 infants (40%) with biopsy‐proven myopathy had an abnormal EMG. Only once did the results of electromyography and biopsy conflict. © 1994 John Wiley & Sons, Inc.