Miracle-dz/UniFAR-FTUs huggingface dataset:
People with MECP2 mutation-positive Rett disorder who converse.

BACKGROUND People with useful speech after regression constitute a distinct group of those with mutation-positive Rett disorder, 6% (20/331) reported among mutation-positive people in the British Survey. We aimed to determine the physical, mental and genetic characteristics of this group and to gain insight into their experience of Rett syndrome. METHODS Clinical and molecular data for people with Rett, aged 10 or more years at follow-up (the study group, n = 13), with the ability to converse and a MECP2 mutation are presented. They were compared with an age-matched control group (n = 110), who could not converse and had a pathogenic MECP2 mutation. RESULTS The study group differed significantly from the control group with regard to their disease severity (P < 0.001); feeding difficulty scores (P < 0.001); health scores (P < 0.001); epilepsy (P < 0.001); head circumference (P < 0.004); age at onset of the regression period (P < 0.001) (six in the study group did not regress) and mutation frequency (C-terminal deletions P = 0.014, R133C P < 0.006). The results indicate that favourable skewing of X-inactivation is only present in a small proportion of mild cases. Speech was fragmented with a soft, breathless quality, and all but two had obviously irregular breathing. One person with an R168X mutation preferred signing to speech. All enjoyed interpersonal contact, showing affection and preferring people to objects, clearly distinguishing the condition from autism. Most were habitually anxious. Music was a source of pleasure and relaxation also providing a valuable educational asset. Even in these most able cases, understanding was severely restricted in most and little initiative was shown. CONCLUSIONS While the Rett profile is present in these people they are commonly not classic, and the presence of speech, good head growth and lack of regression may lead to missed diagnoses. A strong association was demonstrated between this milder form of the disease and R133C and C-terminal deletions.
Analytical Markov model for slotted ALOHA with opportunistic RF energy harvesting

In this paper, we investigate the performance of an ALOHA random access wireless network consisting of nodes with and without RF energy harvesting capability. We develop and analyze a Markov model for the system when nodes with RF energy harvesting capability are infinitely backlogged. Our results indicate that the network throughput is improved when the conventional nodes are underloaded. On the contrary, when all types of nodes have finite backlogs, we numerically demonstrate that the network throughput and delay are improved when the overall system is overloaded. We show that there exists a trade-off between energy efficiency and delay, and we determine the optimal number of energy harvesting nodes in a network maximizing the energy efficiency while satisfying a given delay requirement.
Markedly Increased Susceptibility to Natural Sheep Scrapie of Transgenic Mice Expressing Ovine PrP

ABSTRACT The susceptibility of sheep to scrapie is known to involve, as a major determinant, the nature of the prion protein (PrP) allele, with the VRQ allele conferring the highest susceptibility to the disease. Transgenic mice expressing in their brains three different ovine PrPVRQ-encoding transgenes under an endogenous PrP-deficient genetic background were established. Nine transgenic (tgOv) lines were selected and challenged with two scrapie field isolates derived from VRQ-homozygous affected sheep. All inoculated mice developed neurological signs associated with a transmissible spongiform encephalopathy (TSE) disease and accumulated a protease-resistant form of PrP (PrPres) in their brains. The incubation duration appeared to be inversely related to the PrP steady-state level in the brain, irrespective of the transgene construct. The survival time for animals from the line expressing the highest level of PrP was reduced by at least 1 year compared to those of two groups of conventional mice. With one isolate, the duration of incubation was as short as 2 months, which is comparable to that observed for the rodent TSE models with the briefest survival times. No survival time reduction was observed upon subpassaging of either isolate, suggesting no need for adaptation of the agent to its new host. Overexpression of the transgene was found not to be required for transmission to be accelerated compared to that observed with wild-type mice. Conversely, transgenic mice overexpressing murine PrP were found to be less susceptible than tgOv lines expressing ovine PrP at physiological levels. These data argue that ovine PrPVRQ provided a better substrate for sheep prion replication than did mouse PrP. Altogether, these tgOv mice could be an improved model for experimental studies on natural sheep scrapie.
Special report: suicidal ideation among American surgeons.

BACKGROUND Suicide is a disproportionate cause of death for US physicians. The prevalence of suicidal ideation (SI) among surgeons and their use of mental health resources are unknown. STUDY DESIGN Members of the American College of Surgeons were sent an anonymous cross-sectional survey in June 2008. The survey included questions regarding SI and use of mental health resources, a validated depression screening tool, and standardized assessments of burnout and quality of life. RESULTS Of 7905 participating surgeons (response rate, 31.7%), 501 (6.3%) reported SI during the previous 12 months. Among individuals 45 years and older, SI was 1.5 to 3.0 times more common among surgeons than the general population (P < .02). Only 130 surgeons (26.0%) with recent SI had sought psychiatric or psychologic help, while 301 (60.1%) were reluctant to seek help due to concern that it could affect their medical license. Recent SI had a large, statistically significant adverse relationship with all 3 domains of burnout (emotional exhaustion, depersonalization, and low personal accomplishment) and symptoms of depression. Burnout (odds ratio, 1.910; P < .001) and depression (odds ratio, 7.012; P < .001) were independently associated with SI after controlling for personal and professional characteristics. Other personal and professional characteristics also related to the prevalence of SI. CONCLUSIONS Although 1 of 16 surgeons reported SI in the previous year, few sought psychiatric or psychologic help. Recent SI among surgeons was strongly related to symptoms of depression and a surgeon's degree of burnout. Studies are needed to determine how to reduce SI among surgeons and how to eliminate barriers to their use of mental health resources.
Role of Cyclic Di-GMP during El Tor Biotype Vibrio cholerae Infection: Characterization of the In Vivo-Induced Cyclic Di-GMP Phosphodiesterase CdpA

ABSTRACT In Vibrio cholerae, the second messenger cyclic di-GMP (c-di-GMP) positively regulates biofilm formation and negatively regulates virulence and is proposed to play an important role in the transition from persistence in the environment to survival in the host. Herein we describe a characterization of the infection-induced gene cdpA, which encodes both GGDEF and EAL domains, which are known to mediate diguanylate cyclase and c-di-GMP phosphodiesterase (PDE) activities, respectively. CdpA is shown to possess PDE activity, and this activity is regulated by its inactive degenerate GGDEF domain. CdpA inhibits biofilm formation but has no effect on colonization of the infant mouse small intestine. Consistent with these observations, cdpA is expressed during in vitro growth in a biofilm but is not expressed in vivo until the late stage of infection, after colonization has occurred. To test for a role of c-di-GMP in the early stages of infection, we artificially increased c-di-GMP and observed reduced colonization. This was attributed to a significant reduction in toxT transcription during infection. Cumulatively, these results support a model of the V. cholerae life cycle in which c-di-GMP must be down-regulated early after entering the small intestine and maintained at a low level to allow virulence gene expression, colonization, and motility at appropriate stages of infection.
On State Space Reduction in Sequential Decision Processes

This paper provides sufficient conditions when certain information about the past of a stochastic sequential decision processes can be ignored by a controller and when the problem state space can be reduced to a smaller set. We illustrate the results with particular applications to queueing control, control of semi-Markov decision processes with iid sojourn times, and uniformization of continuous-time Markov decision processes.
Is Asymmetric Correlation in Stock Returns Actually Asymmetric Correlations in Stock Fundamentals?

This paper tests asymmetric correlations in the variables that may influence stock returns. We find that corporate earnings, sales, and analyst forecasts have statistically significant asymmetric correlations, indicating that the variables have larger conditional betas during negative market-wide movements. Earnings surprises are not asymmetrically correlated as analyst forecasts adjust for asymmetric correlations in stock fundamentals. Trading pressures are not asymmetrically correlated but the distribution of their conditional betas shows that trading pressures amplify both positive and negative market-wide shocks. Overall, the results suggest that asymmetric correlation in stock returns is asymmetric correlation in stock fundamentals.
Experimental Demonstration of VLC-Based Vehicle-to-Vehicle Communications Under Fog Conditions

Vehicle-to-vehicle (V2V) communication using visible light communication (VLC) technology under fog conditions is presented. Fog is known as one of the most detrimental atmospheric conditions that causes outdoor optical wireless communications to be unreliable. The effect of the fog conditions is experimentally analyzed in the VLC-based V2V system. Recognizing the least attenuation coefficient and a taillight color of a vehicle, a red light-emitting diode (LED) was employed in the experiment. In addition, a Fresnel lens and multiple photodiodes are utilized to efficiently counteract the impairment caused by fog. The experimental results demonstrate that the proposed VLC-based V2V system offers a reliable V2V data transmission over the fog-impaired optical channel with a relatively high signal-to-noise ratio (SNR), even under a heavy-fog condition.
Relationship between folic acid intake and gingival health in non-smoking adults in Japan.

OBJECTIVE To assess the relationship between dietary intake of folate and gingival bleeding in non-smoking adults in Japan. MATERIALS AND METHODS Data were obtained from residents who participated in the regional nutrition survey and survey of dental diseases conducted by the administrative office of northernmost prefecture of Japan. Dietitians visited households to collect data on dietary intake. Clinical parameters, including Community Periodontal Index (CPI) and bleeding on probing (BOP), were examined in community centers. Information on smoking habit was obtained from the interview. Then the data from 497 non-smoking adults with 20 teeth or more, aged 18 years or older, were analyzed. The relationship between dietary intake of folic acid and gingival bleeding status was estimated using multivariate analysis. RESULTS Pearson's correlation coefficient showed a significant negative correlation between dietary folate level and bleeding on probing. The negative association between folate level and bleeding on probing remained statistically significant in multiple regression analysis (standardized beta = -0.204, P < 0.001). However, no significant association was found between CPI scores and folate intake level. CONCLUSIONS The results suggest that dietary intake of folic acid, an important indicator of gingival bleeding in adults, may provide an important clinical target for intervention to promote gingival health.
Elite athletes in aesthetic and Olympic weight-class sports and the challenge of body weight and body compositions

Abstract The use of dieting, rapid weight loss, and frequent weight fluctuation among athletes competing in weight-class and leanness sports have been considered a problem for years, but the extent of the problem and the health and performance consequences have yet to be fully examined. Most studies examining these issues have had weak methodology. However, results from this review indicate that a high proportion of athletes are using extreme weight-control methods and that the rules of some sports might be associated with the risk of continuous dieting, energy deficit, and/or use of extreme weight-loss methods that can be detrimental to health and performance. Thus, preventive strategies are justified for medical as well as performance reasons. The most urgent needs are: (1) to develop sport-specific educational programmes for athletic trainers, coaches, and athletes; (2) modifications to regulations; and (3) research related to minimum percentage body fat and judging patterns.
Evaluation of Oxidative Stress in Bipolar Disorder in terms of Total Oxidant Status, Total Antioxidant Status, and Oxidative Stress Index.

INTRODUCTION Bipolar disorder is one of the most debilitating psychiatric disorders characterized by disruptive episodes of mania/hypomania and depression. Considering the complex role of biological and environmental factors in the etiology of affective disorders, recent studies have focused on oxidative stress, which may damage nerve cell components and take part in pathophysiology. The aim of the present study was to contribute to the data about oxidative stress in bipolar disorder by detecting the total antioxidant status (TAS), total oxidant status (TOS), and oxidative stress index (OSI) levels of manic episode (ME) and euthymic (EU) patients and by comparing these results with those of healthy controls (HCs). METHODS The study population consisted of 28 EU outpatients meeting the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) criteria for bipolar disorder I and 23 inpatients who were currently hospitalized in a psychiatry ward with the diagnosis of the bipolar disorder ME according to the DSM-5 criteria. Forty-three healthy subjects were included in the study as the control group (HC). Serum TAS, TOS, and OSI levels of all the participants were determined. RESULTS Statistical analysis of serum TAS, TOS, and OSI levels did not show any significant differences between the ME patients, EU patients, and HCs. Comparison between the bipolar disorder patients (ME+EU) and HC also did not reveal any statistically significant difference between these two groups in terms of serum TAS, TOS, and OSI levels. CONCLUSION To date, studies on oxidative stress in bipolar disorder have led to controversial results. In the present study, no statistically significant difference was detected between the oxidative parameters of bipolar disorder patients and HCs. In order to comprehensively evaluate oxidative stress in bipolar disorder, further studies are needed.
Inactivation of expression of several genes in a variety of bacterial species by EGS technology

The expression of gene products in bacteria can be inhibited by the use of RNA external guide sequences (EGSs) that hybridize to a target mRNA. Endogenous RNase P cleaves the mRNA in the complex, making it inactive. EGSs participate in this biochemical reaction as the data presented here show. They promote mRNA cleavage at the expected site and sometimes at other secondary sites. Higher-order structure must affect these reactions if the cleavage does not occur at the defined site, which has been determined by techniques based on their ability to find sites that are accessible to the EGS oligonucleotides. Sites defined by a random EGS technique occur as expected. Oligonucleotides made up primarily of defined or random nucleotides are extremely useful in inhibiting expression of the gyrA and rnpA genes from several different bacteria or the cat gene that determines resistance to chloramphenicol in Escherichia coli. An EGS made up of a peptide-phosphorodiamidate morpholino oligonucleotide (PPMO) does not cleave at the same site as an unmodified RNA EGS for reasons that are only partly understood. However, PPMO-EGSs are useful in inhibiting the expression of targeted genes from Gram-negative and Gram-positive organisms during ordinary growth in broth and may provide a basis for broad-spectrum antibiotics.
Effect of menstrual cycle on pulmonary functions and respiratory efficiency

Background: The cyclic hormonal changes during different phases of menstrual cycle are responsible for various physiological changes including its diverse role on reproductive organs. Their effects on extra-reproductive systems like airway dynamics and respiratory efficiency are very few in literature. Aim: To evaluate the effects of menstrual cycle on various parameters of lung functions and respiratory efficiency in young females. Materials and methods: 75 young non-pregnant females of age group 18-30 years were selected randomly for this study. Their menstrual phases were estimated based on menstrual history questionnaires and last date of menstrual bleeding, namely, menstrual, follicular and luteal. Their pulmonary function tests and respiratory efficiency was measured using computerized spirometer thrice in each phases of menstrual cycle. The various parameters evaluated were: forced vital capacity (FVC), forced expiratory volume in 1 st sec (FEV1), Maximum mid expiratory flow rate (MMEFR), peak expiratory flow rate (PEFR), maximum voluntary ventilation (MVV), 40 mm respiratory endurance test (RET), breath holding time after full expiration and maximum inspiration (BHT ex and BHT ins) and maximum expiratory pressure (MEP). Results: FVC, FEV1, and MMEFR were significantly higher during the luteal phase as compared to menstrual and Follicular phase; whereas PEFR and MVV were significantly higher during the luteal phase as compared to menstrual phase only. On respiratory efficiency tests the BHT ex, BHT ins and MEP were significantly higher during the luteal phase as compared to menstrual and Follicular phase; also it was observed that BHT ex were significantly higher during the follicular phase as compared to the menstrual phase. Jasrotia RB, Kanchan A, Harsoda JM. Effect of menstrual cycle on pulmonary functions and respiratory efficiency. IAIM, 2016; 3(7): 233-238. Page 234 Conclusion: Respiratory efficiency and pulmonary functions parameters were higher during the luteal phase of menstrual cycle. Main reason behind this could be the progesterone hormones’ effect on respiratory apparatus, whose levels remains on higher side during the luteal phase.
Predicting Student Success Using In-Program Monitoring

Objective. To determine whether admissions data alone adequately predicts student success in the first-year doctor of pharmacy (PharmD) curriculum or whether academic monitoring and intervention has greater value toward successful completion of first-year coursework. Methods. A systematic evaluation of the literature assessing student success was performed to ascertain historical evidence of student success metrics. We then retrospectively analyzed internal admissions data and first-year outcomes for our pharmacy classes of 2016-2019 using available data. We conducted an interim evaluation of voluntary academic monitoring and mentoring with the hypothesis that admission data alone cannot predict student success in early foundational coursework, and intentional intervention might improve success. Results. Pre-pharmacy grade point average (GPA), science GPA, Pharmacy College Admission Test (PCAT) score, and prior degree status each retain some predictive value regarding success, and combinations of these factors may improve the ability to predict student success in early foundational coursework. There remains a significant, and perhaps insurmountable, gap in identifying quantitative metrics that forecast student success. Although admission data can stratify incoming students based on predicted academic ability, early monitoring and intervention provide an actionable means for enhancing student success in first-year coursework. Conclusion. Quantitative academic measures, such as PCAT scores and GPA, historically have demonstrated limited value in predicting student success. While these measures allow stratification of predicted academic performance among incoming students, monitoring of first-year, institution-specific data, such as midterm grades, can direct intentional intervention and remediation strategies that may provide more benefit to ensure students succeed.
Frequent integration of precore/core mutants of hepatitis B virus in human hepatocellular carcinoma tissues

The development of hepatitis B virus (HBV)‐associated hepatocellular carcinoma (HCC) frequently follows persistent HBV infection and may arise in individuals who are hepatitis B e antigen (HBeAg) negative, indicating the possible presence of precore/core mutants. It is unclear whether precore/core mutants are associated with tumour development or are selected for after chromosomal integration of the wild‐type viral DNA. We studied the status and sequence variation of the precore/core region of HBV in 56 patients with HBV‐associated HCC and in various corresponding non‐tumour tissues by Southern blot analysis, polymerase chain reaction and direct sequencing. Southern blot showed that integrated HBV DNA existed in 43 of 56 HCC tissues. Sequence analysis revealed mutations in 65% of the HCC (26/40) and 45% (14/31) of the corresponding non‐tumour tissues. The mutation at nucleotide (nt) 1896, known to prevent HBeAg synthesis, was detected in 40% (16/40) of the tumours and in 35.4% (11/31) of the non‐tumour tissues. Other mutations were found at nt 1899 (eight of 40 in HCC; three of 31 in non‐tumour tissues), nt 1898 (seven of 40 in HCC; two of 31 in non‐tumour tissues), nt 1912 (seven of 40 in HCC; none of 31 in non‐tumour tissues) and nt 1886 (three of 40 in HCC; none of 31 in non‐tumour tissues). To determine whether this finding merely reflected the prevalence of such mutants in this geographical region, HBV DNA from the sera of patients (also in this region) with acute and chronic hepatitis were sequenced. The nt 1896 mutant was found in 5.6% (one of 18) of patients with acute hepatitis B and in 22.8% (nine of 35) of patients with chronic hepatitis B. However, the nt 1898 mutation was not found in any of these sera. The precore/core mutant was observed with increasing frequency from acute hepatitis to chronic hepatitis, non‐tumour and HCC, and this difference in frequency was significant between HCC and acute hepatitis B groups (P < 0.01), suggesting that the precore/core mutant or hepatocytes harbouring this mutant may be under immune selection and that such mutations may facilitate integration and subsequent tumour development.