Miracle-dz/UniFAR-FTUs huggingface dataset:
Familial 25.3 Mb inverted duplication of bands q32.1 to q35.1 on chromosome 4 with psychomotor impairments

Partial 4q trisomy has been described in more than 80 patients. In most patients, the 4q trisomic segment was derived from a parent carrying a reciprocal balanced translocation or an inversion on chromosome 4 and was accompanied by a concurrent deletion of another chromosomeor a short armof chromosome4, respectively. Clinical heterogeneity of partial 4q trisomy has been reported, possibly due to the variability of the 4q duplicated segment and its accompanied anomalies. Pure duplications of 4q without a concurrent deletion are infrequent and have been described in fewer than 25 patients [Celle et al., 2000; Rinaldi et al., 2003; Lin et al., 2004; Otsuka et al., 2005; Egritas et al., 2010]. Here we present a three-generation family with pure 4q32.1-q35.1 duplication, never described before (Fig. 1). This 25.3Mb 4q duplication was detected by conventional chromosome study and was further characterized by SNP microarray analyses and FISH studies. The patient was a 4-month-old male with failure to progress, who was born to a 33-year-old mother at 41 weeks gestational age by cesarean. At birth, he was in the neonatal intensive care unit for 6 days because of respiratory distress. Subsequently, at 2months of age, he had an episode of apnea andwas hospitalized. At this time, he was diagnosed with a fenestrated atrial shunt, mild supravalvar pulmonic stenosis, and gastroesophageal reflux disease. At the age of 4 months (Fig. 1, III-2), his height was at the 50th centile, his weight was at the 90th centile, and his OFC was at the 75th centile. He had developmental delay, large anterior fontanelle, broad cheeks, bilateral epicanthal folds, and long philtrum. He had bilateral single transverse palmar creases, deep creases in the soles of his feet, hypoplastic nails, and right-side cryptorchidism. Otherwise, his general physical examination was unremarkable. His 34-year-oldmother, his 56-year-oldmaternal grandmother, his 35-year-old maternal aunt (Fig. 1, II-1), and his 14-year-old maternal cousin (Fig. 1, III-1) had psychomotor impairments and needed special education. His 59-year-old maternal grandfather (Fig. 1, I-2) is phenotypically normal and his father is not available. The patient’s blood karyotype is 46,XY,dup(4)(q35q32) resulting in an interstitial duplication of the 4q32-q35 segment (Fig. 2a), which was further delineated by chromosomemicroarray analyses. Affymetrix Genome-wide 6.0 SNP-microarray genotyping (using Chromosome Analysis Suite software for the analysis) showed a 25.3Mb duplication of a chromosome 4 [arr 4q32.1q35.1 (158,425,313–183,681,864)X3] using the assembly hg19/GRCh 37 of the human genome (Fig. 2b). FISH was performed using home-brewed BAC probes including RP11-719M18 at 4q32 and RP11-295A7 at 4q35. FISH analysis confirmed this 4q duplication since these probes showed three copies in each of 200 interphase
'Safe passage': pregnant Iranian Kurdish women's choice of childbirth method.

AIM This article is a report of a grounded theory study of the influence of emotions on women's selection of a method of childbirth. BACKGROUND There is substantial evidence to indicate that a pregnant woman's emotions play an important role in the decision-making process of selecting a child delivery method. Despite this, however, there is a notable lack of research about the relationship between pregnant women's emotions and their choice of a childbirth method in developing countries. METHODS A qualitative study using the grounded theory approach was conducted. The data were collected from 22 Iranian Kurdish pregnant women in their third trimester using semi-structured interviews. Concurrent data collection and analysis took place between 2008 and 2009. A cumulative process of theoretical sampling and constant comparison was used to identify concepts and then expand, validate, and clarify them. FINDINGS The substantive grounded theory that was identified from data analysis was 'safe passage'. 'Safe passage' involved five phases that were not mutually exclusive in their occurrence. The five phases of the 'safe passage' theory that were identified from the data analysis were: 'safety of baby', 'fear', 'previous experience', 'social support' and 'faith'. The goal of 'safe passage' was to achieve a healthy delivery and to ensure the health of the newborn. CONCLUSION 'Safe passage' was a process used to determine how the emotions of pregnant Iranian Kurdish women influenced their choice of the mode of child delivery. More research is needed in this field to develop a body of knowledge beneficial to midwifery education and practice.
Medicine administration errors in patients with dysphagia in secondary care: a multi-centre observational study.

AIM The aim of this study was to describe the interventions used by nurses when administering oral medicines to patients with and without dysphagia, to quantify the appropriateness of these interventions and the medicine administration error rate. BACKGROUND The administration of medicines to patients with dysphagia is complex and potentially more error prone because of the need to match the medication's formulation to the swallowing ability of the patient. METHOD Data was collected on the preparation and administration of oral medicines to patients with and without dysphagia, including those with enteral feeding tubes, using undisguised direct observation of 65 nurse-led medicine administration rounds on stroke and care-of-the-elderly wards at four acute general hospitals in East of England between 1 March and 30 June 2008. RESULTS Of the 2129 medicine administrations observed, 817 involved an error, and of these 313 involved patients with dysphagia. Excluding time errors, the normalized frequency of medicine administration errors for patients with dysphagia was 21.1% compared with 5.9% for patients without. Using a mixed effects model and excluding time errors, there is a higher risk of errors for patients with dysphagia (excluding patients with enteral tubes) compared with those without (P < 0.001) and a further increase in risk of error for patients with enteral tubes compared with dysphagic patients without tubes (P < 0.001). CONCLUSION The increased medicine administration error rate in patients with dysphagia requires healthcare professionals to take extra care when prescribing, dispensing and administering medicines to this group.
Identification of Novel GDNF Isoforms and cis-Antisense GDNFOS Gene and Their Regulation in Human Middle Temporal Gyrus of Alzheimer Disease*

Background: Glial cell line-derived neurotrophic factor (GDNF) has been effective therapy in laboratory animal models of Parkinson disease. Results: A human GDNFOS (GDNF opposite strand) gene was discovered and potentially encodes a 105-amino acid peptide. Conclusion: GDNF sense and GDNFOS antisense genes are differentially regulated in human tissues. Significance: GDNF and GDNFOS isoforms may have roles in human neurodegenerative diseases. Primate-specific genes and isoforms could provide insight into human brain diseases. Our bioinformatic analysis revealed that there are possibly five isoforms of human GDNF gene with different pre- and pro-regions by inter- and intra-exon splicing. By using TaqMan primer probe sets, designed between exons, we verified the expression of all isoforms. Furthermore, a novel GDNFOS gene was found to be transcribed from the opposite strand of GDNF gene. GDNFOS gene has four exons that are spliced into different isoforms. GDNFOS1 and GDNFOS2 are long noncoding RNAs, and GDNFOS3 encodes a protein of 105 amino acids. To study human GDNF and GDNFOS regulation in neurodegenerative diseases, the protein and mRNA levels were measured by Western blot and RT-quantitative PCR, respectively, in postmortem middle temporal gyrus (MTG) of Alzheimer disease (AD) and Huntington disease (HD) patients in comparison with those of normal controls. In the MTG of AD patients, the mature GDNF peptide was down-regulated; however, the transcript of GDNF isoform from human exon 2 was up-regulated, whereas that of the conserved isoform from exon 1 remained unchanged in comparison with those of normal controls. In contrast, the mature GDNF peptide and the isoform mRNA levels were not changed in the MTG of HD. The findings of novel GDNF and GDNFOS isoforms and differences in tissue expression patterns dysregulated in AD brains may further reveal the role of endogenous GDNF in human brain diseases.
Role of Cysteine Residues and Disulfide Bonds in the Activity of a Legume Root Nodule-specific, Cysteine-rich Peptide*

Background: Legume antimicrobial peptides (AMPs) mediate Sinorhizobium meliloti bacteroid differentiation. Results: Cysteine replacements and disulfide bond modifications influence the antimicrobial activity of a legume AMP and its ability to mediate S. meliloti bacteroid differentiation. Conclusion: Specific changes to legume AMPs influence their activity against S. meliloti. Significance: Understanding the relationship of AMPs in S. meliloti bacteroid differentiation is fundamental for nitrogen fixation and legume growth. The root nodules of certain legumes including Medicago truncatula produce >300 different nodule-specific cysteine-rich (NCR) peptides. Medicago NCR antimicrobial peptides (AMPs) mediate the differentiation of the bacterium, Sinorhizobium meliloti into a nitrogen-fixing bacteroid within the legume root nodules. In vitro, NCR AMPs such as NCR247 induced bacteroid features and exhibited antimicrobial activity against S. meliloti. The bacterial BacA protein is critical to prevent S. meliloti from being hypersensitive toward NCR AMPs. NCR AMPs are cationic and have conserved cysteine residues, which form disulfide (S–S) bridges. However, the natural configuration of NCR AMP S–S bridges and the role of these in the activity of the peptide are unknown. In this study, we found that either cysteine replacements or S–S bond modifications influenced the activity of NCR247 against S. meliloti. Specifically, either substitution of cysteines for serines, changing the S–S bridges from cysteines 1–2, 3–4 to 1–3, 2–4 or oxidation of NCR247 lowered its activity against S. meliloti. We also determined that BacA specifically protected S. meliloti against oxidized NCR247. Due to the large number of different NCRs synthesized by legume root nodules and the importance of bacterial BacA proteins for prolonged host infections, these findings have important implications for analyzing the function of these novel peptides and the protective role of BacA in the bacterial response toward these peptides.
An empowerment framework for nursing leadership development: supporting evidence.

AIM This article is a report on a descriptive study of nurse leaders' perspectives of the outcomes of a formal leadership programme. BACKGROUND Effective nurse leaders are necessary to address complex issues associated with healthcare systems reforms. Little is known about the types of leadership development programmes that most effectively prepare nurse leaders for healthcare challenges. When nurse leaders use structural and psychological empowerment strategies, the results are safer work environments and better nurse outcomes. The leadership development programme associated with this study is based on a unifying theoretical empowerment framework to empower nurse leaders and enable them to empower others. METHODS Twenty seven front-line and mid-level nurse leaders with variable years of experience were interviewed for 1 year after participating in a formal leadership development programme. Data were gathered in 2008-2009 from four programme cohorts. Four researchers independently developed code categories and themes using qualitative content analysis. RESULTS Evidence of leadership development programme empowerment included nurse leader reports of increased self-confidence with respect to carrying out their roles and responsibilities; positive changes in their leadership styles; and perceptions of staff recognition of positive stylistic changes. Regardless of years of experience, mid-level leaders had a broader appreciation of practice environment issues than front-line leaders. Time for reflection was valuable to all participants, and front-line leaders, in particular, appreciated the time to discuss nurse-specific issues with their colleagues. CONCLUSION This study provides evidence that a theoretical empowerment framework and strategies can empower nurse leaders, potentially resulting in staff empowerment.
Managing change in the care of children with complex needs: healthcare providers' perspectives.

AIM This paper is a report of a descriptive qualitative study of the role and activities of nursing and allied health professionals caring for children with complex needs in a community setting. BACKGROUND Health care is changing in terms of service provision and delivery, with an increased focus on person-centred care, prevention and community-based services. The role of nursing and allied health professionals is central to these changes but is not well described in terms of capacity, or the knowledge and skills required to meet increasing demand. METHOD Within four Health Boards, semi-structured telephone interviews were conducted in 2007 with three nursing and four allied health managers, followed by four focus groups with 15 nursing and 11 allied health practitioners; in addition, three nurses and one speech therapist were interviewed by telephone. RESULTS Respondents identified challenges related to communication and information systems, equity of service provision, family-centred care and partnership working. Generic and specialized knowledge and skills are needed, although providing the right skills in the right place can often prove problematic with potential implications for service provision. CONCLUSION Findings support the adoption of integrated partnership working, going beyond the identification of key professionals, to developing a set of criteria against which future service provision could be judged. Research priorities were identified; comparative evaluation of services, better understanding of the transition process and a clearer sense of the individual's response to the increasing customization of services.
Cancer Of The Prostate: Experience At Nnewi, Southeast, Nigeria

Objective: To evaluate the clinical presentation, method of diagnosis, treatment and outcome of prostate cancer patients. Patients and Methods: A 5-year retrospective study of all patients seen with the diagnosis of cancer of the prostate at the Urology Unit of Nnamdi Azikiwe University Teaching Hospital, Nnewi from January1, 1996 to December 31, 2000. The demographic pattern, clinical features, laboratory findings, treatment modalities and outcome were studied. Results: A total of 54 cases were seen. Cancer of the prostate was the commonest urological tumour accounting for 77.1%. There was a 4-fold increase in annual incidence between 1996 and 2000. Mean age was 71.0+10.9 years with a range of 44-92 years. Average duration of symptoms before presentation was 8 months while the commonest mode of presentation was Lower Urinary Tract Symptoms (LUTS). Digital Rectal Examination (DRE) had a predictive value of 66.7%. PSA was obtained only in 17 patients. Values of Conclusion: Prostate cancer is a major problem facing the aging male. Inadequate facilities make early detection difficult. Treatment is mainly palliative because of late presentation. Key Words: Prostate cancer, Incidence, Presentation, Diagnosis, Palliation. Nigerian Journal of Clinical Practice Vol. 7(2) 2004: 65-68
Atrial premature beats predict atrial fibrillation in cryptogenic stroke: results from the EMBRACE trial.

30-day ECG ( P <0.0001), and at 90 days ( P =0.0017) and 2 years ( P =0.0027). Compared with the 16% overall 90-day AF detection rate, the probability of AF increased from <9% among patients with <100 APBs/24 h to 9% to 24% in those with 100 to 499 APBs/24 h, 25% to 37% with 500 to 999 APBs/24 h, 37% to 40% with 1000 to 1499 APBs/24 h, and 40% beyond 1500 APBs/24 h. Conclusions —Among older cryptogenic stroke or transient ischemic attack patients, the number of APBs on a routine 24-hour Holter ECG was a strong dose-dependent independent predictor of prevalent subclinical AF. Those with frequent APBs have a high probability of AF and represent ideal candidates for prolonged ECG monitoring for AF detection. were expected to change smoothly and gradually. The bootstrap was used to evaluate overfit- ting and produce corrected indexes of discrimination. Furthermore, we categorized patients into 5 groups based on their baseline 24-hour APB count: <100, 100 to 499, 500 to 999, 1000 to 1499, and ≥ 1500. as a prognostic tool for those in sinus rhythm and suggests that it may have value as a triage tool to identify higher-risk patients who may benefit from additional monitoring. Beyond the secondary stroke prevention population, this work also has research implications for predicting AF and targeting AF screening in primary care or special populations (after abla-tion, cardiac surgery, or apparent transient postoperative AF). 36
The effectiveness of the Omaha System intervention on the women's health promotion lifestyle profile and quality of life.

AIM This article is a report of a quasi-experimental study of the effectiveness of the Omaha System intervention on the women's health promotion lifestyle profile and the quality of life. BACKGROUND The Omaha System is a model for organizing, documenting and evaluating the outcomes of comprehensive, community-based, client-centred care. Therefore, the Omaha System is important for public health nurses whose aim is to protect and promote health. However, few studies addressed the influence of the Omaha System on health promotion activities or quality of life in adult population. METHODS The design of the study was one-group pre-test and post-test. The study took place in Turkey in 2007; the sample comprised 76 women from an urban primary healthcare centre. The women completed questionnaires consisting of demographical characteristics, the health promotion lifestyle profile scale developed by Walker and colleagues and the quality of life scale developed by Burckhardt and colleagues. The researcher then visited selected women in their home weekly or biweekly for a 4-month period. At the end of intervention, the scales were applied to the women as the post-test. FINDINGS The mean scores of self-actualization, health responsibility, interpersonal support, stress management subscales of the health promotion lifestyle profile and the total score increased in post-test, except for nutrition subscale. There were statistically significant differences between pre- and post-test scores. CONCLUSIONS This study demonstrated that the Omaha System intervention increases health promotion lifestyle profile of the women. It is recommended as a nursing care to health promotion.
Prevalence of Refractive Errors in Medical Students.

Introduction: Prevalence of refractive errors among students pursuing higher studies is very high. Very little data about the prevalence of refractive errors among medical students in eastern India is available. The present study intends to throw light on the above perspective. Objectives: Cross-sectional study to determine the prevalence of refractive errors among medical students attending Burdwan Medical College and Hospital. Materials and Methods: Randomly selected 580 medical students were subjected to evaluation of refractive errors in department of Ophthalmology, Burdwan Medical College over a period of six months. All students were assessed for refractive errors using auto-refractometer (TOPCON RM-8000B, TOPCON Corporation, Tokyo, Japan). Refractive errors have been further categorized according to the Diopteric power. Results: Refractive errors were found in 330(56.90%) medical students out of which 215(65.15%) were male students and 115(34.85%) were female students. Myopia, 208(63.03%) was the commonest type of refractive error. According to the categorization of refractive errors in terms of diopter (D) it was more common in 1-2.99D, category 2. Conclusion: From the present study the significance of prevalence of refractive errors among medical students is very much highlighted.
A Comparison of Efficacy and Side Effects of Knee Osteoarthritis Treatments with Crude Derris scandens and Ibuprofen

Health-care personnel at a Loengnoktha hospital have used crude Derris scandens Benth ( thaowanpriang in Thai). For the treatment of knee osteoarthritis (OA) for many years and they claim that D. scandens crude is effective without any evidence from research. The objectives of this study were to determine the efficacy, patients’ satisfaction and safety of D. scandens crude in pain reduction and functional improvement in patients with knee OA in a community hospital. This is a prospective, double-blinded, randomized, controlled trial conducted at Loengnoktha Crown Prince Hospital in Yasothon province, Thailand, among 178 outpatients with primary OA of the knee. The patients were randomized to receive ibuprofen 400 mg after meal three times per day or D. scandens crude 1,000 mg after meal three times per day for seven days. The outcome was measured by evaluating patients’ symptoms using the Visual Analogue Scale (VAS) on days 0, 3, and 8, as well as compliance with medication, satisfaction, and hematologic and blood chemistry changes after treatment. Of all 178 patients, 88 and 90 were randomized to take ibuprofen and D. scandens crude, respectively. The baseline characteristics of the patients in both groups were not significantly different. The rates of compliance with ibuprofen and D. scandens crude were 77.3% and 73.3%, respectively (p > 0.05). The mean VAS outcomes on days 3 and 8 improved significantly compared to the baseline values. The severity of symptoms after treatment and the response rates were not significantly different between both groups. Side effects were observed in 39.77% and 35.55% of the patients in the ibuprofen and Derris groups, respectively. No hematologic and blood chemistry changes were observed after treatment in both groups. Most of the patients in both groups were satisfied with the treatments they had received. The data were analyzed using descriptive statistics, i.e. two-way repeat measure ANOVA, student t-test and non-parametric tests where appropriate. There were no differences in efficacy and safety in the treatments of knee osteoarthritis with D. scandens crude for seven consecutive days and ibuprofen.
The next of kin of older people undergoing haemodialysis: a discursive perspective on perceptions of participation.

AIM This paper is a report of a study conducted to explore how the family members of older people who will undergo haemodialysis treatment for the rest of their lives perceive participation. BACKGROUND The rights of families to participate in treatment and health care are supported by international law, and by national law in Norway since 1999. METHOD This study, which employed an explorative qualitative approach, was carried out in Norway in 2008. Data were derived from transcribed interviews with seven family members underwent critical discourse analysis. FINDINGS Three discourse practices about the next of kin perception of participation were found: (1) to care and take control, (2) to struggle for involvement, and (3) to be forgotten and powerless. The next of kin said that they had no dialogue with the healthcare team, and some fought to be included in the decision-making process. CONCLUSION The dominant part of the discourse as expressed by the next of kin seems to be a paternalistic ideology. Thus, finding ways to enable the next of kin to participate in the decision-making process seems to be a major challenge for the healthcare team in the dialysis units.