Miracle-dz/UniFAR-FTUs huggingface dataset:
Identification of a common N540K mutation in 8/18 Taiwanese hypochondroplasia patients: further evidence for genetic heterogeneity

To the Editor : To evaluate if N540K mutation of FGFR3 is common in Taiwanese hypochondroplasia patients, we examined 18 unrelated probands by use of polymerase chain reaction (PCR)-based natural and amplification created restriction sites (ACRS). Here we report the identification and differentiation of the universal N540K mutations in Taiwanese hypochondroplasia patients (Table 1). Genomic DNA was purified from peripheral blood according to the standard laboratory procedures. Three DNA fragments were amplified in a Perkin-Elmer GeneAmp PCR System 2400 utilizing three different primer pairs: fragment 1, FM (5%-GATCGGGAAACACAAAAACATCG6 TC-3%) and FN (5%-GCGTACTCCACCAGCACGTAC-3%); fragment 2, HM1 (5%-AGACGATGCCACTGACAAGGA-3%) and HM3 (5%-CTGCGTGCAGGCGCCCAC6 CA-3%); and fragment 3, HM1 and FN. Mismatched nucleotides were underlined. Since the two most common mutations that cause hypochondroplasia were found in nucleotide 1659 (C1659A and C1659G) of FGFR3 tyrosine kinase domain, PCR-based restriction digests were utilized to identify them. In normal individuals, amplification of DNA fragment 1 with FM and FN creates a HincII site, which would not be present in both C1659A and C1659G alleles. As shown in Fig. 1, HincII digestion gave two fragments of 25 bp (not shown in the gel) and 136 bp in normal control (lane 1), while an extra band (161 bp) was present in probands with either C1659A (lane 2) or C1659G (lane 3) allele. On the other hand, amplification of DNA fragment 2 with HM1 and HM3 creates a BsrI in the C1659A allele, while amplification of DNA fragment 3 with HM1 and FN creates an AluI site in the C1659G allele. As shown in Fig. 1, BsrI could only digest DNA fragment 2 amplified from the proband with C1659A allele (lane 6), while AluI could only digest DNA fragment 3 amplified from the proband with C1659G allele (lane 8). DNA fragment 2 amplified from either normal control (lane 4) or the proband with C1659G allele (lane 5) was not cut by BsrI; and DNA fragment 3 amplified from either normal control (lane 7) or the proband with C1659A allele (lane 9) was not cut with AluI, either. Our finding suggests that N540K is a common mutation in hypochondroplasia not only in Caucasians, but also in Chinese people. The fact that 8 out of 18 Taiwanese hypochondroplasia patients did not have the N540K mutation confirms the previous suggestion that hypochondroplasia is a heterogeneous disorder (1, 2). These patients may have other undetected mutations in FGFR3 or in other genes. Similar to other studies, we did not observe any clinical difference between hypochondroplasia patients with N540K mutation and patients that do not carry this mutation (3, 4). Linkage studies have suggested the assignment of hypochondroplasia to 12q23 in one subgroup (2) and excluded linkage to 4p16.3 in two families (5). Diagnosis of hypochondroplasia is difficult and is often by exclusion, especially during infancy. Table 1. Hypochondroplasia mutations in Taiwanese patients
The trend of body donation for education based on Korean social and religious culture

Until a century ago, Korean medicine was based mainly on Oriental philosophies and ideas. From a religious perspective, Chinese Confucianism was prevalent in Korea at that time. Since Confucianists believe that it is against one's filial duty to harm his or her body, given to them by their parents, most Koreans did not donate their bodies or organs for education in the past. However, by the end of the 20th century, a unique fusion of Western and Oriental medicines were produced on the Korean Peninsula, revolutionizing traditional perspectives on the human body, mortality, and the relationship of medical science to society. Koreans began to think about others' lives as well as their own by realizing the importance of donating one's organs and bodies for scientific purposes. Since then, the number of people donating their bodies to Korean medical and dental schools for the purpose of improving academic learning has increased dramatically. In response, Korean medical schools have begun to hold various types of funeral ceremonies to honor body donors. We have compared such ceremonies performed in Korea with those performed in the United States of America and Taiwan. These ceremonies are viewed as a suitable way to pay proper respect to the dead and to promote knowledge about body donation programs in Korea. Overall, the transition of religions and social ethics in Korea has greatly facilitated body bequeathal programs, benefiting both medical education and the Korean public health administration. Anat Sci Educ. © 2011 American Association of Anatomists.
Incidence and prevalence of CIDP and the association of diabetes mellitus

Background: The reported prevalence of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) varies greatly, from 1.9 to 7.7 per 100,000. CIDP is reported to occur more commonly in patients with diabetes mellitus (DM) but has not been rigorously tested. Objectives: To determine the incidence (1982–2001) and prevalence (on January 1, 2000) of CIDP in Olmsted County, Minnesota, and whether DM is more frequent in CIDP. Methods: CIDP was diagnosed by clinical criteria followed by review of electrophysiology. Cases were coded as definite, probable, or possible. DM was ascertained by clinical diagnosis or current American Diabetes Association glycemia criteria. Results: One thousand five hundred eighty-one medical records were reviewed, and 23 patients (10 women and 13 men) were identified as having CIDP (19 definite and 4 probable). The median age was 58 years (range 4–83 years), with a median disease duration at diagnosis of 10 months (range 2–64 months). The incidence of CIDP was 1.6/100,000/year. The prevalence was 8.9/100,000 persons on January 1, 2000. Only 1 of the 23 CIDP patients (4%) also had DM, whereas 14 of 115 age- and sex-matched controls (12%) had DM. Conclusions: 1) The incidence (1.6/100,000/year) and prevalence (8.9/100,000) of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) are similar to or higher than previous estimates. 2) The incidence of CIDP is similar to that of acute inflammatory demyelinating polyradiculoneuropathy within the same population. 3) Diabetes mellitus (DM) is unlikely to be a major risk covariate for CIDP, but we cannot exclude a small effect. 4) The perceived association of DM with CIDP may be due to misclassification of other forms of diabetic neuropathies and excessive emphasis on electrophysiologic criteria.
Population-based prevalence of hepatitis B and C virus, HIV, syphilis, gonorrhoea and chlamydia in male injection drug users in Lagos, Nigeria

Summary There is little research on injecting drug use in Nigeria. We investigated the prevalence of HIV, hepatitis B and C, and sexually transmitted infections (STIs) among male injection drug users (IDUs) in Lagos. Male IDUs (N = 328) were recruited through respondent-driven sampling. Participants completed an interview about their sexual and injecting risk behaviours and were tested for hepatitis B surface antigen (HBV), hepatitis C antibody (HCV), HIV and syphilis, as well as genital chlamydia and gonorrhoea infections. Three-quarters of IDUs (74%) reported injecting drugs in the past one month although most did not share needles (92%) and the majority obtained sterile needles from pharmacists (87%). Estimated HBV, HCV, HIV, syphilis, gonorrhoea and chlamydia prevalences were 7.8%, 7.7%, 0.9%, 1.9%, 0.0%, and 3.7%, respectively. The burden of HIV is presently low among IDUs in Lagos. Changes in accessibility to sterile needles at pharmacists would likely have a deleterious effect on IDUs' health. HBV vaccination and HCV prevention programmes for IDUs are urgently needed.
Targeted disruption of S 100 P suppresses tumor cell growth by down-regulation of cyclin D 1 and CDK 2 in human hepatocellular carcinoma

Hepatocellular carcinoma (HCC) is the third leading cause of cancer death worldwide. The number of cases of HCC has continued to increase in recent decades. Previous studies have suggested that S100P, a member of the S100P calcium-binding protein family, is aberrantly regulated in several malignant neoplasms. However, the underlying molecular mechanisms of the dysregulation of S100P remain to be elucidated. To investigate biological effects of S100P on hepatocarcinogenesis, aberrant expression of S100P was investigated by immunohistochemistry (IHC), Western blot analysis and reverse transcriptase-polymerase chain reaction (RT-PCR) in HCC tissues and cell lines. Endogenous expression of S100P was disrupted by the RNA interferencemediated protein knockdown method in the human Hep3B liver cancer cell line. Then, cell growth and cellular apoptosis were compared with control siRNA transfectants. The effects of S100P-silencing on the major components of cell cycle regulation were assessed by Western blot analysis. As results, elevated levels of S100P were observed in the HCC tissues compared to the corresponding normal tissues. Targeted disruption of S100P suppressed cell growth and augmented cellular apoptosis. In addition, inhibition of S100P resulted in the down-regulation of cyclinD1 and CDK2. In conclusion, this study showed over-expression of S100P in HCC. The aberrant regulation of S100P in HCC might activate cyclin D1 and CDK expression and contribute to the mitogenic potential of tumor cells during HCC carcinogenesis. These findings provide information that suggests new therapeutic strategies for the treatment of liver cancer.
Human Factors, User Requirements, and User Acceptance of Ride-Sharing In Automated Vehicles

This paper provides an overview of the social-psychological factors that are likely to influence the trust and acceptance of shared SAE Level 4 Automated Vehicles (AVs). It begins with a short summary of what influences users’ engagement in ride-sharing for conventional vehicles, followed by the factors that affect user acceptance and trust of robotic systems. Using studies of human robot interaction (HRI), recommendations are made on how to improve users’ trust, acceptance and use of shared AVs. Results from real-world studies and on-line surveys provide some contradictory views regarding willingness to accept and use the systems, which may be partly due to the fact that on-line users have not had actual interactions with AVs. We recommend that the pathway to adoption and acceptance of AVs should be incremental and iterative, providing users with hands-on experience of the systems at every stage. This removes unrealistic, idealised, expectations, which can ultimately hamper acceptance. Manufacturers may also use new technologies, social-networks and crowd-sourcing techniques to receive feedback and input from consumers themselves, in order to increase adoption and acceptance of shared AVs.
Relationship Between Serum Ferritin, TIBC Level and Helicobacter pylori Infection

Background: In iron deficiency anemia (IDA), serum ferritin level is decreased and total iron binding capacity (TIBC) is increased Objectives: In this study the relationship betweenH. pylori infection and iron deficiency anemia were studied. Methods: This research was a cross-sectional study. TIBC and ferritin levels were measured in 133 patients, suspected to H. pylori infection, then serum levels of IgM and IgG antibody againstH. pylori infection were measured Results: From 133 patients, 97 were females (72.93%) and 36 males (28.07%), 36 of them (23 women and 13 men) have a TIBC levels more than 400 ug/dL and ferritin levels were less than 12ng/dL. Twenty patients had IgG antibodies and 5 patients had IgM against H. pylori. Conclusions: The results show the association betweenH.pylori infection and increased levels of TIBC and decreased serum ferritin.
Adherence: Comparison of Methods to Assess Medication Adherence and Classify Nonadherence

Background: Medication adherence is suboptimal, and clinicians and researchers struggle with identifying nonadherent patients. Various measures of medication adherence exist, but there is controversy regarding which measures provide acceptable data and how nonadherence should be defined. Objective: To assess agreement among patient self-report, pharmacy refill, and electronic adherence measures and compare the sensitivity and specificity of different cut-points for defining nonadherence. Methods: Data were analyzed from 2 similarly designed randomized controlled trials that assessed a pharmacist's intervention to improve medication adherence among patients with hypertension or heart failure. For each participant, adherence was measured by patient self-report, prescription refill records, and electronic lids on medication containers. Agreement among measures was assessed using Spearman's correlation coefficient rho. Correlation coefficients were compared by patient characteristics using Fisher's Z transformation, The sensitivity and specificity of different cut-points for defining nonadherence were calculated. Results: Median adherence was 84% for self-report, 86% for electronic, and 91% for prescription refill adherence measurement. Refill and electronic adherence demonstrated the best agreement among measures (rho = 0.48). Age, depression, and other comorbid conditions influenced agreement among measures. Measures were generally in agreement, regardless of how nonadherence was defined. A cut-point of 80% illustrated a fair balance between sensitivity and specificity for all measures. Conclusions: All measures provided similar estimates of overall adherence, although refill and electronic measures were in highest agreement. In selection of a measure, practitioners should consider population and disease characteristics, since measurement agreement could be influenced by these and other factors. The commonly used, clinically based cut-point of 80% had a reasonable balance between sensitivity and specificity in studies of adherence in patients with heart failure or hypertension.
Polyomaviruses BK, JC, KI, WU, MC, and TS in children with allogeneic hematopoietic stem cell transplantation

Timely and reliable detection of viruses is of key importance in early diagnosis of infection(s) following allogeneic HSCT. Among the immunocompetent, infections with BKPyV and JCPyV are mostly subclinical, while post‐HSCT, the former may cause HC and the latter PML. The epidemiology and clinical impact of the newly identified KIPyV, WUPyV, MCPyV, and TSPyV in this context remain to be defined. To assess the incidence and clinical impact of BKPyV, JCPyV, KIPyV, WUPyV, MCPyV, and TSPyV infections, we performed longitudinal molecular surveillance for DNAemias of these HPyVs among 53 pediatric HSCT recipients. Surveillance pre‐HSCT and for three months post‐HSCT revealed BKPyV DNAemia in 20 (38%) patients. Our data demonstrate frequent BKPyV DNAemia among pediatric patients with HSCT and the confinement of clinical symptoms to high copy numbers alone. MCPyV and JCPyV viremias occurred at low and TSPyV viremia at very low prevalences. KIPyV or WUPyV viremias were not demonstrable in this group of immunocompromised patients.
Growth and body composition in response to chemotherapy in children with acute lymphoblastic leukemia

Severely malnourished children afflicted by acute lymphoblastic leukemia (ALL), particularly in developing countries, have reduced tolerance to chemotherapy and a compromised prospect for survival. We investigated the prevalence and severity of alterations in growth and nutritional status in children with ALL from population‐based referral areas in Canada. All children were treated with Dana‐Farber Cancer Institute ALL Consortium protocols. First, the relative impact of cranial irradiation (CI) and chemotherapy on growth was studied in 116 children at diagnosis and at 6‐month intervals during treatment. We observed a decline in height standard deviation (SD) score in the first year in all children, and a further decline in height SD score during the second year only in the children who received CI. Weight reduction occurred in the first year, but during the second year there was a disproportionate increase in weight compared with height, suggesting that children treated with ALL have a tendency toward obesity. Both chemotherapy and CI contribute to the altered growth observed in children treated for ALL. Second, intestinal functional integrity was assessed in 16 children during post‐induction chemotherapy. Nutrient intake was adequate and there was minimal evidence of malabsorption: fat malabsorption occurred in only 1 child (after treatment‐related pancreatitis), abnormal D‐xylose absorption occurred in 2 children at 6 months of therapy (returning to normal 6 months later) and abnormal lactose absorption occurred in 4 children. Third, weight, height, whole body lean and fat mass measured by dual‐energy X‐ray absorptiometry and serum albumin were determined at diagnosis and at 6‐month intervals throughout therapy in 19 children with ALL. Height SD scores decreased significantly during treatment. Serum albumin was abnormally low in 6/19 at diagnosis and 14/18 during intensive consolidation therapy. The mean change in the ratio of lean mass to total body weight showed a 5% reduction by 6 months of therapy. Body fat increased from a mean of 22% at diagnosis to 28% at completion of therapy. The majority of children treated for ALL thus have significant changes in nutritional status manifested by reductions in growth, alterations in lean and fat body mass and abnormally low serum proteins during intensive therapy. Int. J. Cancer Supplement 11:81–84, 1998. © 1998 Wiley‐Liss, Inc.
A novel method for estimating heritability using molecular markers

Heritability is usually estimated with individuals of known relatedness generated using a controlled breeding programme or through response to selection. In this paper, we use two single-locus VNTR DNA fingerprint markers in conjunction with a maximum likelihood method to infer relatedness among pairs of individuals in a captive population of Pacific chinook salmon (Oncorhynchus tshawytscha). Patterns of relatedness inferred from the two DNA fingerprint markers were used to estimate heritability for, and genetic correlations among, several economically and ecologically important traits (weight, length, flesh colour and precocious male maturation). Heritabilities ranged from 0.20 for weight, 0.38 for length, 0.67 for precocious male maturation (‘jacking’) to 0.76 for flesh colour, which are in good agreement with estimates for salmonids generated using classical quantitative genetic methods. This molecular marker-based method allows for the estimation of heritability in wild, long-lived species not easily manipulated for study using controlled breeding programmes.
Elicitor-Induced l-Tyrosine Decarboxylase from Plant Cell Suspension Cultures : I. Induction and Purification.

l-Tyrosine decarboxylase (EC 4.1.1.25) activity was induced in cell suspension cultures of Thalictrum rugosum Ait. and Eschscholtzia californica Cham. with a yeast polysaccharide preparation (elicitor). The highest l-tyrosine decarboxylase activity in extracts from 7-day-old cell cultures of E. californica was observed 5 hours after addition of 30 to 40 micrograms elicitor per gram cell fresh weight. The enzyme extracted from cells of E. californica was purified 1540-fold to a specific activity of 2.6 micromoles CO(2) produced per minute per milligram protein at pH 8.4 and 30 degrees C. Purified enzyme from T. rugosum showed a specific activity of 0.18 micromoles per minute per milligram protein. The purification procedure involved ammonium sulfate fractionation, anion-exchange fast protein liquid chromatography, ultrafiltration, and hydrophobic interaction chromatography. Sodium dodecyl sulfate-polyacrylamide gel electrophoresis showed that the enzyme from the two plant cell cultures had subunits of identical molecular weight (56,300 +/- 300 daltons.
QUALITY OF LIFE AND DEPRESSION AMONG FEMALE PATIENTS UNDERGOING SURGICAL TREATMENT FOR BREAST CANCER : A PROSPECTIVE STUDY Psychiatria Danubina

QUALITY OF LIFE AND DEPRESSION AMONG FEMALE PATIENTS UNDERGOING SURGICAL TREATMENT FOR BREAST CANCER: A PROSPECTIVE STUDY Anto Dujmovi , Darko Mar inko, Krešimir Buli , Hrvoje Kisi , Mladen Dudukovi 2 & Davor Mijatovi 1,2 School of Medicine, University of Zagreb, Zagreb, Croatia Department of Plastic, Reconstructive and Cosmetic Surgery, University Hospital Center Zagreb, Zagreb, Croatia Department of Psychiatry, University Hospital Center Zagreb, Zagreb, Croatia
Threat Effect of the Labour Market Programs in Denmark: Evidence From a Quasi-Experiment

This paper analyses the pre-participation effect of the Danish active labour market programs on the welfare recipients. The Danish participation rules differ for “young” and “old” individuals. A reform which increased the age boundary between “young” and “old”is used to identify the effect of the “threat” of active labour market program participation before the actual participation starts. We use a register-based dataset and focus on the transition intensity out of welfare. We show that the reform led to a 25% increase in early exit rate for men, which corresponds to effect of halving the benefits. There is no indication that the reform led to exits elsewhere than employment or to lower-quality jobs. The impact on women is smaller, statistically not significant, and partially related to movements to education. There is some evidence that the effect is related to the arrival of specific information (anticipation effect) and it is limited to a number of compliers only.
Non quadratic stability of nonlinear systems in the Takagi-Sugeno form

This paper presents new stability conditions for continuous-time Takagi-Sugeno (T-S) models and, by extension, a wide class of nonlinear systems. The stability conditions are derived by using a non quadratic Liapunov function. The results are presented in a Linear Matrix Inequality (LMI) formulation. An extension to the case of stabilization with different types of controllers is also proposed here.
Aspirations , Inequality , Investment and Mobility

What individuals want for themselves, or what parents want for their children, is conditioned by society in fundamental ways. One such pathway is via the creation of individual aspirations (for their own future, or for their children’s future). To some extent, such aspirations are drawn from past individual experience (as in the literature on habit formation or reference points), but at the same time they are profoundly affected by one’s social environment. We look at others “around” us, and their experiences and achievements shape our desires and goals.