Miracle-dz/UniFAR-FTUs huggingface dataset:
Small inherited terminal duplication of 7q with hydrocephalus, cleft palate, joint contractures, and severe hypotonia

We report a 14-month-old girl with submucous cleft palate, resolving mild hydrocephalus, severe hypotonia and joint contractures. The finding of extreme hydrocephalus, cleft palate and club feet in a fetus of the mother's previous pregnancy suggested an inherited defect. Chromosome analysis and FISH studies in the proband revealed an abnormal homolog 13 resulting in a duplication of distal chromosome 7q, 7q35-qter, and a very small associated deletion of distal chromosome 13q, 13q34-qter. The mother showed the balanced translocation. Similar clinical signs have been described with larger distal 7q duplications. Our findings suggest that 7q35-qter, and possibly the gene for sonic hedgehog (SHH) on 7q36, is the critical region for the typical facial features and the profound hypotonia observed in the ‘trisomy of distal 7q’ syndrome.
Reactive arthritis associated with Campylobacter enteritis

Campylobacter jejuni has recently become recognized as a leading cause of diarrhea. To date reactive arthritis has rarely been diagnosed in association with Campylobacter enteritis. Clinical manifestations, diagnostic studies and management of 21 patients with Campylobacter-re-active arthritis are reviewed. The symptom-free interval between diarrhea and arthritis lasts from a few days to several weeks. In two-thirds of the patients sterile joint involvement is multiple, is migratory and includes large joints. Fever and leukocytosis are usually absent, whereas the erythrocyte sedimentation rate is elevated. Positive association with HLA-B27 is found in approximately 60% of cases. Arthritic course is self-limiting and ranges from one week to several months, and prognosis is excellent. These features of Campylobacter-reactive arthritis are consistent with those of reactive arthritis associated with Salmonella, Shigella or Yersinia intestinal infection.
Lymph node retrieval after resection of rectal cancer following preoperative chemoradiotherapy.

BACKGROUND According to the current guidelines of proper TNM staging, 12 lymph nodes per specimen are crucial. This study assessed the role of preoperative radiochemotherapy on the number of lymph nodes detected in the tumor-bearing specimen. MATERIAL AND METHODS Retrospective data of 138 patients who underwent surgery for stage II and III rectal cancer without preoperative radiochemotherapy during the period of 2004-2006 (control group) were compared with prospective data of 38 patients who received preoperative radiochemotherapy during the period of 2007-2008 (study group). The number of patients with metastatic lymph nodes, number of lymph nodes per specimen, number of metastatic lymph nodes per specimen, and the size of the tumor between the groups were compared. RESULTS Positive lymph nodes were detected in 88 (64%) patients in the control group as compared with 9 (21%) patients in the study group (P<0.05). The mean number of lymph nodes per specimen in the control group was 13.5, while in the study group, the mean number of lymph nodes per specimen was 6.29 (P<0.05). There was a significant difference in the mean number of metastatic lymph nodes per specimen between the groups (5.12 in the control group versus 2.11 in the study group; P<0.05). The mean size of the tumor was 4.37 cm in the control group and 2.45 cm in the study group (P<0.01). CONCLUSIONS Preoperative radiochemotherapy for advanced rectal cancer significantly decreased the number of lymph nodes detected in the tumor-bearing specimen. This also resulted in a significant decrease in the number of metastatic lymph nodes detected in the specimen, and fewer patients with stage III (N+) cancer were diagnosed. Preoperative radiochemotherapy could induce a significant downsizing and downstaging of advanced rectal cancer, but great care in operative and pathologic examination techniques must be taken to ensure appropriate staging.
Sustainability Struggles: Conflicting Cultures and Incompatible Logics

Introducing and implementing corporate sustainability poses many challenges to business organizations. In this longitudinal, inductive study, we focus on how such challenges are handled in a Dutch bank that is developing its sustainability policies. We examine why there is such a high degree of tension and conflict within the organization and identify how the development of these policies is affected by the interplay between subcultures and institutional logics. We show how different subcultures affect the enactment of logics by infusing the rational and mindful behavior coming from logics with (sub)cultural values, beliefs, and assumptions. In turn, conflicting logics amplify subcultural characteristics between groups by shaping different behavior and practices. Together, this leads to a magnification of subcultural differences while, at the same time, logics are increasingly being perceived as incompatible.
Epidemiology, antibiotic therapy, and clinical outcomes in health care-associated pneumonia: a UK cohort study.

BACKGROUND The recently introduced concept of health care-associated pneumonia (HCAP), referring to patients with frequent healthcare contacts and at higher risk of contracting resistant pathogens, is controversial. METHODS This prospective observational study recorded the clinical features, microbiology, and outcomes in a UK cohort of hospitalized patients with pneumonia. The primary outcome was 30-day mortality. Logistic regression was used to adjust for confounders when determining the impact of HCAP on clinical outcomes. RESULTS A total of 20.5% of patients met the HCAP criteria. HCAP patients were older than patients with community-acquired pneumonia (CAP) (median 76 y, IQR 65-83 vs 65 y, IQR 48-77; P < .0001) and more frequently had major comorbidities (62.1% vs 45.2%; P < .0001). Patients with HCAP had higher initial severity compared to CAP patients (Pneumonia Severity Index, mean 3.7 [SD 1.1] vs mean 3.1 [SD 1.3]; P < .0001) but also worse functional status using the Eastern Cooperative Oncology Group scale (mean 2.4 [SD 1.44] vs mean 1.4 [SD 1.13]; P < .0001) and more frequently had treatment restrictions such as do not resuscitate orders (59.9% vs 29.8%; P < .0001). Consequently mortality was increased (odds ratio [OR] 2.15 [1.44-3.22]; P = .002) in HCAP patients on univariate analysis. Multivariate analysis suggested this relationship was primarily due to confounders rather than a higher frequency of treatment failure due to resistant organisms (adjusted OR .97 [.61-1.55]; P = .9). The frequencies of Pseudomonas aeruginosa, methicillin-resistant Staphylococcus aureus, and Gram-negative Enterobacteriaceae were low in both cohorts. CONCLUSIONS HCAP is common in the United Kingdom and is associated with a high mortality. This increased mortality was primarily related to underlying patient-related factors rather than the presence of antibiotic-resistant pathogens. This study did not establish a clear indication to change prescribing practices in a UK cohort.
Vascular Access for Dialysis in the Elderly

Aims: The aim of this study was to analyze early and late outcome of the first vascular accesses performed in the HGUGM of Madrid between 1992 and 1997, comparing the results in patients older and younger than 65 years. Methods: Retrospective study. All the vascular accesses performed in patients without previous permanent angioaccess between January 1992 and March 1997 were studied. Early failure, complication rate (patient-year of follow-up), and cumulative patency rates were analyzed. Results: The difference between grafts required in young (25%) and old patients (34%) was significant (p < 0.01). Complication rate in autologous fistulas was 0.07 per patient-year in the younger group and 0.12 per patient-year in the older (p < 0.01). Complication rate in grafts was 0.5 per patient-year in the younger group and 0.8 per patient-year in the older group (p < 0.05). There were no significant differences in patency rates for both autologous and graft accesses between patients younger or older than 65 years. Better primary patency (log-rank comparison between curves, p < 0.001), and lower complication rates (0.09 patient-year for autologous and 0.58 for grafts, p < 0.001), were observed in autologous fistulas in both groups. Conclusions: Autologous access is the best angioaccess for dialysis also in older patients and can be performed in most patients without a previous permanent access. Yet, we observed in our experience that more grafts were needed in patients older than 65 years.
The impact of generalized anxiety disorder and stressful life events on risk for major depressive episodes

Background. Both generalized anxiety disorder (GAD) and stressful life events (SLEs) are established risk factors for major depressive disorder, but no studies exist that examine the interrelationship of their impact on depressive onsets. In this study, we sought to analyze the joint effects of prior history of GAD and recent SLEs on risk for major depressive episodes, comparing these in men and women. Method. In a population-based sample of 8068 adult twins, Cox proportional hazard models were used to predict onsets of major depression from reported prior GAD and last-year SLEs rated on long-term contextual threat. Results. For all levels of threat, prior GAD increases risk for depression, with a monotonic relationship between threat level and risk. While females without prior GAD consistently show higher depressive risk than males, this is no longer the case in subjects with prior GAD who have experienced SLEs. Rather, males appear to be more vulnerable to the depressogenic effects of both prior GAD and SLEs. Conclusion. The effects of prior GAD and SLEs jointly increase the risk of depression in both sexes, but disproportionately so in males.
Immunoprotective Properties of Primary Sertoli Cells in Mice: Potential Functional Pathways that Confer Immune Privilege1

ABSTRACT Primary Sertoli cells isolated from mouse testes survive when transplanted across immunological barriers and protect cotransplanted allogeneic and xenogeneic cells from rejection in rodent models. In contrast, the mouse Sertoli cell line (MSC-1) lacks immunoprotective properties associated with primary Sertoli cells. In this study, enriched primary Sertoli cells or MSC-1 cells were transplanted as allografts into the renal subcapsular area of naive BALB/c mice, and their survival in graft sites was compared. While Sertoli cells were detected within the grafts with 100% graft survival throughout the 20-day study, MSC-1 cells were rejected between 11 and 14 days, with 0% graft survival at 20 days posttransplantation. Nonetheless, the mechanism for primary Sertoli cell survival and immunoprotection remains unresolved. To identify immune factors or functional pathways potentially responsible for immune privilege, gene expression profiles of enriched primary Sertoli cells were compared with those of MSC-1 cells. Microarray analysis identified 2369 genes in enriched primary Sertoli cells that were differentially expressed at ±4-fold or higher levels than in MSC-1 cells. Ontological analyses identified multiple immune pathways, which were used to generate a list of 340 immune-related genes. Three functions were identified in primary Sertoli cells as potentially important for establishing immune privilege: suppression of inflammation by specific cytokines and prostanoid molecules, slowing of leukocyte migration by controlled cell junctions and actin polymerization, and inhibition of complement activation and membrane-associated cell lysis. These results increase our understanding of testicular immune privilege and, in the long-term, could lead to improvements in transplantation success.
Social and ecological structures supporting adolescent connectedness to school: a theoretical model.

BACKGROUND Adolescence is a time of great change. For most young people, this is a healthy and happy experience; however, for some it is characterized by many health, social, and academic challenges. A student's feeling of connectedness to school helps meet these challenges. Little is known, however, about the school characteristics that promote this connection and, more importantly, how this connection occurs. This article reviews the connectedness literature and integrates health promotion, adolescent development, and ecological frameworks to describe how a school context fosters this connection. METHOD A systematic search and review process was used to retrieve scholarly articles pertaining to the research topic. RESULTS Each retrieved article was summarized, and a subsequent model was developed to define a school ecology and describe how this ecology influences a student's need to feel connected to school and the positive influence this connection has on adolescent health and well-being. CONCLUSIONS Integrating developmental, ecological, and health promotion intervention theories and frameworks assists in the identification of interpersonal and organizational aspects of a school environment, which satisfy an individual's needs to feel autonomous, competent, and connected, and to improve health and well-being outcomes for adolescents.
Stent-Based Delivery of Antisense Oligodeoxynucleotides Targeted to the PDGF A-Chain Decreases In-Stent Restenosis of the Coronary Artery

Background: Although the use of drug-eluting stents (DESs) has been shown to limit neointima hyperplasia, currently available DESs may adversely affect reendothelialization, possibly precipitating cardiac events. We evaluated the effect of an antisense oligodeoxynucleotide (ODN) targeted to the platelet-derived growth factor (PDGF) A-chain on in-stent restenosis in pig coronary artery. Methods: A bare metal stent coated with phosphorothioate-linked antisense ODN or nonsense ODN, or a bare metal stent without ODN (control), was implanted in the mid segment of the left anterior descending artery (LAD). Twenty-eight days after implantation, angiography and intravascular ultrasound (IVUS) were performed, the LAD was removed, and stenosis was evaluated pathologically. Results: Volumetric stenosis ratios were 64 ± 11.9, 44 ± 3.4, and 26 ± 3.8% in coronary arteries implanted with control, nonsense ODN-coated, and antisense ODN-coated stents, respectively. In angioscopic findings, the lumen surface was smooth in the stented segments in all groups. Struts of antisense ODN-coated stents were observed embedded in the neointima, whereas embedding was not observed in nonsense ODN-coated stents or control stents, indicating a decrease in hyperplasia in response to antisense ODN treatment. Pathologic findings showed 77 ± 5.8, 68 ± 12.2, and 38 ± 5.3% stenosis in coronary arteries implanted with control stents, nonsense ODN-coated stents, and antisense ODN-coated stents, respectively. A continuous lining of endothelial cells was observed along the lumen of coronary arteries implanted with antisense ODN-coated stents. Conclusions: Stent-based delivery of an antisense ODN targeted to the PDGF A-chain effectively inhibits neointima formation after stent implantation in pig coronary artery by suppressing VSMC hyperplasia and preserving endothelialization. Antisense-ODNs may provide a therapy for in-stent restenosis of the coronary artery.
Probabilistic adjustment of dwell time for eye typing

Requiring a dwell time before selection is a common way to solve “Midas-touch problem” in gaze-based interaction. Choosing the dwell time involves a tradeoff between unintentional selection for short dwell times and slow text entry for long dwell times. We propose a probabilistic model for gaze based selection, which adjusts the dwell time based on the probability of each letter based on the past letters selected. By reformulating the entire problem of gaze-based selection probabilistically, we can naturally integrate the probability of each character naturally and with very few prior assumptions and very few free parameters. It automatically assigns shorter dwell times to more likely characters and longer dwell times to less likely characters. Our experimental results demonstrate that the proposed technique speeds up typing without loss in accuracy. The concept of this can be generalized to other dwell-based applications, leading to more efficient gaze system interaction.
Genetic study of variation in normal mouse iron homeostasis reveals ceruloplasmin as an HFE-hemochromatosis modifier gene.

BACKGROUND & AIMS Genetic hemochromatosis is one of the most common genetic disorders, with progressive tissue iron overload leading to severe clinical complications. In Northern European populations, genetic hemochromatosis is usually caused by homozygosity for the C282Y mutation in the HFE protein. However, penetrance of this mutation is incomplete, suggesting that other genetic and environmental factors contribute to its differential biologic or clinical expression. METHODS To identify genes modifying iron homeostasis, we screened the 27 recombinant congenic strains of the C3H/DiSnA-C57BL/10ScSnA/Dem series for tissue and serum iron indices and genotyped 18 microsatellite markers in (C3H/DiSnA x HcB-2) F2 hybrid mice. RESULTS We identified 1 locus encompassing the Ceruloplasmin (Cp) gene with a strong linkage with liver iron, serum iron, and transferrin levels but not with spleen iron. Sequencing of Cp showed an R435X nonsense mutation in exon 7 in C3H/DiSnA mice. To evaluate whether Cp might act as a modifier gene of genetic hemochromatosis, we intercrossed C3H Hfe(-/-) and C3HDiSnA Cp(R435X/R435X) mice. As expected, we found that double-mutant mice deposited more iron in the liver than mice defective for either one or both genes. In contrast, Hfe(-/-) x Cp(R435/R435X) or Cp(R435X/R435X) x Hfe(+/-) showed 30% decrease in liver iron when compared with single mutant mice. CONCLUSIONS This study highlights the existence of complex interactions between Cp and HFE and represents the first example of a modifier gene with a protective effect, in which heterozygosity reduces the iron load in the context of HFE deficiency.
Identity consolidation and health risk behaviors in college students.

OBJECTIVES To investigate the protective role of personal identity consolidation against health risk behaviors in college-attending emerging adults. METHODS A multisite sample of 1546 college students completed measures of personal identity consolidation and recent risk behavior engagement. RESULTS Multivariate Poisson regression indicated that personal identity consolidation was negatively related to binge drinking, illicit drug use, sexual risk behaviors, and risky driving. These findings were consistent across gender, ethnicity, and place of residence. CONCLUSIONS A consolidated sense of personal identity may protect college-attending emerging adults from health-compromising behaviors. Health professionals could incorporate an identity development component into college health programming.
Sevoflurane versus Propofol for Induction of Anaesthesia for Electroconvulsive Therapy: A Randomized Crossover Trial

Propofol is often used to induce anaesthesia for electroconvulsive therapy. Some patients who receive propofol have fits of poor quality or inadequate duration despite increasing electroconvulsive therapy doses. Sevoflurane has been reported to exhibit pro-convulsant properties in some “at-risk” patients during anaesthesia for other procedures. The purpose of this study was to perform a randomized crossover trial in patients undergoing electroconvulsive therapy, comparing the effects on seizure parameters of propofol versus sevoflurane induction. Patients were randomly allocated to receive either sevoflurane or propofol for their first treatment. In the subsequent treatment the alternative agent was used. Patients in both treatment groups exhibited equally good fits, with those in the sevoflurane group having slightly better morphology, which is the most subjective of the parameters measured. The sevoflurane administrations were associated with slightly higher pulse rates and blood pressures. Sevoflurane provides a suitable alternative to propofol for anaesthesia in patients undergoing electroconvulsive therapy, although the slightly greater pulse rate rise and blood pressure rise should be considered in patients with ischaemic heart disease.
Rotational Scarf and Akin Osteotomy for Correction of Hallux Valgus Associated with Metatarsus Adductus

Background: The presence of metatarsus adductus can complicate hallux valgus surgery. It reduces the gap between the first and second metatarsal and can restrict the transposition of the first metatarsal head. It also confounds the measurement of the first second intermetatarsal angle. Materials and Methods: Twenty-seven patients, (24 female, 38 feet), of average age 59 (SD 23) with symptomatic hallux valgus associated with metatarsus adductus underwent a rotation scarf with Akin osteotomy and were reviewed at an average of 59 (SD 23) months postop. Standard radiographic assessment of the hallux valgus was undertaken as well as measurement of the metatarsus adductus using the Kilmartin angle and the intermetatarsal angle of Engel. Results: The mean preoperative intermetatarsal and hallux valgus angles were 14 degrees (SD 4) and 35 degrees (SD 7.4) respectively. The mean postoperative intermetatarsal and hallux valgus angles were 3.9 degrees (S.D. 3.3) and 13.2 degrees (SD 9.4) (p < 0.0001). The confounding effect of metatarsus adductus was evaluated using the Kilmartin angle and the intermetatarsal angle of Engel which significantly improved with surgery (p < 0.0001). Conclusion: The rotation scarf & Akin osteotomy was an effective procedure for correcting hallux valgus associated with metatarsus adductus. It allowed good realignment of the first MTP joint without the need for lesser metatarsal surgery to reduce the metatarsus adductus. Level of Evidence: IV, Retrospective Case Series
The Bradykinin B2 Receptor Is a Delayed Early Response Gene for Platelet-derived Growth Factor in Arterial Smooth Muscle Cells*

Bradykinin and platelet-derived growth factor (PDGF) are inflammatory mediators important in the response to vascular injury. Based upon the known effect of oncogenic Ras to increase bradykinin receptor expression and the ability of PDGF to stimulate Ras, we examined whether PDGF regulates bradykinin B2 receptor expression in cultured arterial smooth muscle cells. Treatment with PDGF (AB and BB, but not AA) produced a dose- and time-dependent increase in both mRNA (6-7-fold increase at 2-4 h) and cell surface receptors (2-4-fold at 6-12 h) for the B2 receptor. There was a 60-min delay between exposure to PDGF and the initial increase in B2 receptor mRNA. Transcriptional inhibitors, actinomycin D or 5,6-dichloro-1-β-D-ribofuranosylbenzimidazole, completely blocked the increase in B2 receptor mRNA when added up to 60 min after stimulation with PDGF. However, protein synthesis was not required, as treatment with cycloheximide did not block but rather superinduced the PDGF-induced increase in B2 receptor mRNA. Comparison with the immediate early response gene c-fos demonstrated that the increase in B2 receptor mRNA was similarly inhibited by the tyrosine kinase inhibitor, tyrphostin, as well as staurosporine. However, stimulation of c-fos was slightly more sensitive to genistein, while the B2 receptor mRNA was more sensitive to inhibition by the protein kinase C inhibitor, calphostin C. The increase in cell surface B2 receptors were functionally coupled to an increase in phosphoinositide-specific phospholipase C, and the effects of PDGF were selective as there was no increase in either angiotensin II- or arginine vasopressin-induced inositol phosphate formation or intracellular calcium release. Taken together, these results demonstrate that the B2 receptor is a delayed early response gene for PDGF in vascular smooth muscle cells.