Miracle-dz/UniFAR-FTUs huggingface dataset:
DNA microarray analysis identifies candidate regions and genes in unexplained mental retardation

Objective: Because in most patients with mental retardation (MR), who constitute 2 to 3% of the population, the etiology remains unknown, we wanted to identify novel chromosomal candidate regions and genes associated with the MR phenotype. Methods: We screened for microimbalances in 60 clinically well-characterized patients with unexplained MR mostly combined with congenital anomalies. Genome-wide array-based comparative genomic hybridization was performed on DNA microarrays with an average resolution of <0.5 Mb. We verified every nonpolymorphic array clone outside the diagnostic thresholds by fluorescence in situ hybridization and performed breakpoint analyses on confirmed imbalances. Results: Six presumably causal microimbalances were detected, five of which have not been reported. Microdeletions were found in five patients with MR and distinctive facial features, who also had neurologic findings (three cases), brain anomalies (two cases), and growth retardation (two cases), in chromosomal bands 6q11.1-q13 (10.8 Mb), Xq21.31-q21.33 (4.0 Mb), 1q24.1-q24.2 (3.8 Mb), 19p13.12 (2.1 Mb), and 4p12-p13 (1.1 Mb). One microduplication was detected in 22q11.2 (2.8 Mb) including the DiGeorge syndrome critical region in a patient with mild MR, microcephaly at birth, and dysmorphisms. Three imbalances were shown to be de novo and two inherited. The Xq21 microdeletion in a boy with borderline intellectual functioning was inherited from a normal mother; the 22q11.2 microduplication was inherited from a normal father and was present in two affected siblings. Conclusion: We could identify novel microimbalances as the probable cause of mental retardation in 10% of patients with unclear etiology. The gene content of the microimbalances was found to correlate with phenotype severity. Precise breakpoint analyses allowed the identification of deleted genes presumably causing mental retardation.
Original Research: miR-194 inhibits proliferation and invasion and promotes apoptosis by targeting KDM5B in esophageal squamous cell carcinoma cells

Increasing evidence suggests that miR-194 is down-regulated in esophageal squamous cell carcinoma tumor tissue. However, the role and underlying mechanism of miR-194 in esophageal squamous cell carcinoma have not been well defined. We used DIANA, TargetScan and miRanda to perform target prediction analysis and found KDM5B is a potential target of miR-194. Based on these findings, we speculated that miR-194 might play a role in esophageal squamous cell carcinoma development and progression by regulation the expression of KDM5B. We detected the expression of miR-194 and KDM5B by quantitative real-time reverse transcription PCR (qRT-PCR) and Western blot assays, respectively, and found down-regulation of miR-194 and up-regulation of KDM5B existed in esophageal squamous cell carcinoma cell lines. By detecting proliferation, invasion and apoptosis of TE6 and TE14 cells transfected with miR-194 mimics or mimic control, miR-194 was found to inhibit proliferation and invasion and promote apoptosis of esophageal squamous cell carcinoma cells. miR-194 was further verified to regulate proliferation, apoptosis and invasion of esophageal squamous cell carcinoma cells by directly targeting KDM5B. Furthermore, animal studies were performed and showed that overexpression of miR-194 inhibited the growth of esophageal squamous cell carcinoma tumors in vivo. These results confirmed our speculation that miR-194 targets KDM5B to inhibit esophageal squamous cell carcinoma development and progression. These findings offer new clues for esophageal squamous cell carcinoma development and progression and novel potential therapeutic targets for esophageal squamous cell carcinoma.
Psychological adjustment of parents of pediatric cancer patients revisited: five years later

We investigated the psychological functioning of parents of children suffering from pediatric cancer using a prospective design over a five‐year time period. Parents of children diagnosed with cancer participated at diagnosis (T1), six months (T2), twelve months (T3), and five years later (T4, n = 115). Repeated measures ANOVAs were calculated for the three measures of psychological distress (GHQ, SCL‐90 and STAI‐S) to examine changes over time and gender differences. Independent T‐tests were computed to examine differences between the mean scores of the parents at T4 and the norm groups. The effects of health status and earlier levels of distress on T4 functioning were examined using ANOVA and partial correlational analysis. Results showed that levels of reported distress, psychoneurotic symptoms and state anxiety significantly decreased across time to normal levels at T4 except on the GHQ. A significantly higher percentage of parents (27%) than in the norm group (15%) showed clinically elevated scores on the GHQ. Mothers had higher scores than fathers only on state anxiety. Parents of relapsed children reported higher anxiety levels than parents of surviving and deceased children. Psychological functioning at T1 was significantly related to functioning at T4. These results support the conclusion that although parental distress decreases with time, a significant number of parents still suffer from clinical distress after five years. Parents of relapsed children are at risk for long‐term psychological problems as are those with higher levels of psychosomatic complaints at diagnosis. Copyright © 2005 John Wiley & Sons, Ltd.
Intestinal microflora in 45 crows in Ueno Zoo and the in vitro susceptibilities of 29 Escherichia coli isolates to 14 antimicrobial agents.

Microorganisms from 45 jungle crows (Corvus macrorhynchos) captured from July to December 2002 at Ueno Zoo, Tokyo were identified as Escherichia coli, Proteus mirabilis, Klebsiella pneumoniae, Klebsiella oxytoca, Enterobacter aerogenes, Enterobacter cloacae, Enterobacter agglomerans, Pseudomonas maltophila, Staphylococcus spp. , Micrococcus spp. , and Streptococcus spp. E. coli showed the highest rate of isolation (21.6%). In an in vitro susceptibility test for 29 isolates of E. coli to 14 antimicrobial agents, all the isolates were resistant to penicillin G, vancomycin, erythromycin, lincomycin, bicozamycin, sulfadimethoxine, and olaquindox. Several isolates of them were also resistant to tetracycline, oxytetracycline, streptomycin, chloramphenicol, and ampicillin. Twenty-nine isolates were divided into 19 serogroups and the most frequently identified serogroups were O8, O114 and O144, which showed the same multidrug-resistant patterns.
The efficacy of intrathecal neostigmine, intrathecal morphine, and their combination for post-cesarean section analgesia.

UNLABELLED We designed this study to evaluate the postoperative analgesic efficacy and safety of intrathecal (i.t.) neostigmine, i.t. morphine, and their combination in patients undergoing cesarean section under spinal anesthesia. Seventy-nine term parturients were randomly divided into four groups to receive isotonic sodium chloride solution 0.2 mL, neostigmine 25 microg, morphine 100 microg, or the combination of i.t. neostigmine 12.5 microg and morphine 50 microg with i.t. 0.5% hyperbaric bupivacaine 12 mg. There were no significant differences among the four groups with regard to spinal anesthesia, maternal blood pressure and heart rate, or fetal status. Postoperative analgesia was provided by i.v. patient-controlled analgesia (PCA) using fentanyl and ketorolac. Compared with the saline group, the time to first PCA use was significantly longer in the neostigmine group (P < 0.001), with lower 24-h analgesic consumption (P < 0.001). Nausea and vomiting were the most common side effects of i.t. neostigmine (73.7%). Analgesic effectiveness was similar between the neostigmine and morphine groups. Compared with the neostigmine group, the combination group had significantly prolonged analgesic effect and reduced 24-h PCA consumption (P < 0.05) with less severity of nausea and vomiting (P = 0.058). Compared with the morphine group, the combination group tended to have prolonged times to first PCA use (P = 0.054) with a lower incidence of pruritus (P < 0.03). IMPLICATIONS Intrathecal (i.t.) neostigmine 25 microg produced postoperative analgesia for cesarean section similar to that of i.t. morphine 100 microg, but with a high incidence of nausea and vomiting. The combination of i.t. neostigmine 12.5 microg and i.t. morphine 50 microg may produce better postoperative analgesia with fewer side effects than i.t. neostigmine 25 microg or i.t. morphine 100 microg alone.
Antimicrobial Effects of Camel Milk against Some Bacterial Pathogens

The present study was aimed to investigate the protective effects of camel milk against pathogenicity induced by Staphylococcus aureus (S. aureus) and E. coli in Wistar rats. Sixty healthy adult male Wistar rats were divided into six groups (10 per group). Group 1 served as a control without any treatment. Group 2 received camel milk for two consecutive weeks. Group 3 injected intraperitoneally (IP) by S. aureus in a doses of 2x10 9 CFU/ml per rat. Group 4 injected IP by E.coli in a dose of 5x10 10 CFU/ml per rat. Group 5 supplemented with camel milk for two consecutive weeks and then injected IP by S.aureus (2x10 9 CFU/ml per rat). Group 6 supplemented with camel milk for two consecutive weeks and then injected IP by E.coli (5x10 10 CFU/ml per rat). All animals were decapitated after 3 weeks, serum was extracted and liver, kidney and lung tissues were taken for pathogen isolation. The isolation rate and pathogenicity of S. aureus and E. coli was high in rats injected pathogens alone (group 3 and 4) compared to camel milk and pathogens administered rats (group 5 and 6). The isolation of S. aureus and E. coli was high in intestine, then lung, kidney and liver. Prior camel milk supplementation ameliorated the degree of pathogenicity induced by pathogens. Camel milk had synergistic action with ciprofloxacin against S. aureus and E. coli to reduce bacterial resistance and decrease the dose of antibiotics. Pathogens injection alone induced significant amelioration in liver and kidney functions and prior camel milk administration inhibited such changes. Moreover, oxidative stress represented by the increase in malondialdehyde levels in serum of pathogens injected rats was decreased by prior camel milk administration. In conclusion, camel milk has beneficial role as antibacterial food supplement against S.aureus and E.coli pathogenicity in Wistar rats.
Cardiac Tamponade and Different Modes of Artifical Ventilation

Cardiac tamponade after open‐heart surgery often occurs in a situation when the patient is still mechanically ventilated and needs circulatory support with catecholamines. To evaluate the effects of different modes of artificial ventilation and dopamine on cardiac tamponade, an experimental study was carried out in seven mongrel dogs. In pentobarbital ‐ N2O anaesthesia, a cardiac tamponade of 20 mmHg was produced by injecting 120–200 ml of normothermic saline into the pericardium. Intermittent positive pressure ventilation (IPPV) and positive end‐expiratory pressure (PEEP) ventilation with frequencies of 12 and 20 were tested before and after producing the tamponade. Cardiac tamponade produced a significant fall in arterial pressure and cardiac output, a significant rise in central venous pressure and only a slight increase in pulmonary arterial pressure. PEEP with the slower ventilation frequency of 12 produced additional, significant falls in cardiac output and systemic arterial pressure, which were not noted with the ventilation frequency of 20 and PEEP. Dopamine infusion increased the cardiac output by increasing the heart rate during tamponade. It is concluded that PEEP ventilation with a slow frequency should not be used if cardiac tamponade is suspected after open‐heart surgery, and that dopamine has a favourable effect on haemodynamics even in the presence of a severe cardiac tamponade.
Contamination of Hands with Methicillin-Resistant Staphylococcus aureus after Contact with Environmental Surfaces and after Contact with the Skin of Colonized Patients

In a study of 40 methicillin-resistant Staphylococcus aureus (MRSA) carriers, hand contamination was equally likely after contact with commonly examined skin sites and commonly touched environmental surfaces in patient rooms (40% vs 45%). These findings suggest that contaminated surfaces may be an important source of MRSA transmission.
Protocolised inpatient care of diabetes mellitus.

BACKGROUND The prevalence of hyperglycaemia in patients with diabetes mellitus at admission is high. Prevention and treatment is important to prevent further clinical complications. We have conducted a study evaluating implementation of a new protocol to standardise inpatient care of patients with diabetes mellitus. METHODS A retrospective study including all glucose measurements of adult patients with diabetes mellitus type 1 o r 2 , admitted to a surgery department, was performed before and after implementation of the new protocol. This protocol included direct consultation of an internist and diabetes specialist nurse at admission, who initiated a daily treatment program and adjustment scheme based on glucose measurements four times a day by the HemoCue201DM glucose point of care device. We compared the prevalence of hyperglycaemia and hypoglycaemia before and after implementation with logistic regression analyses adjusted for age and gender. RESULTS Overall, 360 patients with diabetes mellitus type 1 or 2 with 5322 glucose measurements were included. The risk of developing hyperglycaemia was significantly reduced after implementation of the protocol (22 patients with 65 hyperglycaemias) compared with before the intervention (70 patients with 417 hyperglycaemias) (RR adjusted 0.24 (95% confidence interval 0.19; 0.32)). Overall, 45 patients experienced 95 episodes of hypoglycaemia, which did not differ significantly between the two groups. CONCLUSION After implementation of a new protocol to standardise inpatient care of diabetes mellitus we established a decrease in the risk to develop hyperglycaemia of 76% without an increased risk of developing hypoglycaemia. Implementation of this protocol required frequent glucose measurements which are facilitated by point of care glucose measurements.
Autoimmune Hepatitis and Autoimmune Hepatitis Overlap With Sclerosing Cholangitis: Immunophenotype Markers in Children and Adolescents

Objective: The pathophysiology of autoimmune hepatitis (AIH) may involve the activation of immune cells and changes in the expression of cellular markers. The aim of the present study was to characterize the immunophenotype markers of lymphocytes and monocytes in the peripheral blood of children and adolescents with type 1 AIH and AIH overlap with sclerosing cholangitis (overlap syndrome [OS]). Methods: This is a cross-sectional study of 20 children and adolescents diagnosed with type 1 AIH and 19 with OS. Fifteen healthy subjects were included as controls. Flow cytometric analysis was used to identify markers of inflammation and autoimmunity. Results: The total number of CD4+ T cells was higher in the AIH patients compared with the controls. The number of CD4+ T cells expressing CCR3 and CD28 was higher in the AIH group than in the control group. CD45RO was more highly expressed in the AIH group, whereas CD45RA was more highly expressed in the OS group. In regard to CD8+ T lymphocytes, the CCR3 expression was higher in both groups of patients. Patients with OS had the highest expression of CD45RA and CD25. In monocytes, human leukocyte antigen DR (HLA-DR) was less expressed in both groups of patients. Conclusions: Complex phenotype features may be involved in the pathophysiology of AIH, accounting for changes in immune system regulation mechanisms. In conclusion, even after good response to treatment, patients still have immune activity signals at the cellular level.
Distribution of HIV-1 Variants in the Democratic Republic of Congo Suggests Increase of Subtype C in Kinshasa Between 1997 and 2002

The Democratic Republic of Congo (DRC) is characterized by low and stable HIV prevalences and high HIV-1 genetic diversity and is most probably the epicenter of HIV-1 group M. Our major goal was to study the distribution of HIV-1 variants over a 5-year period against a background of political instability and civil war. A total of 288 HIV-1-positive samples collected in 2002 from sentinel population groups in an HIV serosurveillance study performed in 4 cities (Kinshasa [capital city], Mbuji-Mayi [south], Lubumbashi [southeast], and Kisangani [northeast]) were genetically characterized by sequencing and phylogenetic analysis of the V3-V5 env region. The results were compared with those obtained in 1997. Similarly, as in 1997, an extremely high genetic diversity of HIV-1 strains overall and a heterogeneous geographic distribution were seen in 2002. All subtypes and several circulating recombinant forms were present, high intrasubtype diversity was observed, and 5.6% of the samples could not be classified. In each geographic region of the DRC, the genetic diversity was significantly higher than in neighboring countries. Comparison of subtype distribution in similar population groups in Kinshasa in 1997 and 2002 revealed an overall increase of subtype C in Kinshasa from 2.1% to 9.7% and, more precisely, from 0% to 18.9% in female sex workers (P = 0.013). Genetic characterization of HIV-positive samples from sentinel surveys adds significant additional information on new trends in the HIV epidemic. These changes could have implications regarding the spread of HIV infection in the DRC as well on vaccine and/or treatment strategies.
Cytohistological correlation in pituitary tumor and immunological assessment with the help of Ki-67

Background: Tumors of the pituitary gland and sellar region represent approximately 10–15% of all brain tumors. Pituitary adenoma (PA), the most common pathology of the pituitary gland, can be effectively subclassified only with the help of immunohistochemistry (IHC). This is important and needed for individual patient management. Aims and Objectives: The objective of the study was to analyze the importance of intraoperative imprint smear cytology and correlating with final histopathological diagnosis. Furthermore, to classify the different types of PA with the help of IHC, prolactin (PRL), adrenocorticotropic hormone (ACTH), and growth hormone (GH) and to predict the benign, atypical, or malignant nature of the tumor with the help of prognostic marker Ki-67. Materials and Methods: A prospective study was done in 34 cases. The patients whose pituitary gland samples are referred from the endocrine and the neurosurgery department to the pathology department for histopathological examinations were selected. We have studied the clinical features, radiology and touch imprint cytology, histopathology, and IHC with the help of PRL, ACTH, GH, and Ki-67 of PA over 2 years. Results: In our study, we had 32 cases of PA of 34 cases over a span of 2 years. We have seen that there is a correlation between cytological and histological diagnosis of the subtypes of PA in 62% cases, and the Kappa statistics show a moderate extent of agreement (Kappa - 0.320, 95% confidence interval = 0.031–0.609). Ki-67 when compared to the radiological grading showed a high degree of comparability (Chi-square test: P < 0.001). All cases with invasion had a higher Ki-67. On using the Fisher's exact test, we found that the Ki-67 expression with GH-producing adenomas and ACTH-producing adenomas was comparable (P = 1.000) while in PRL-producing adenomas too this was not significant (P = 0.269). Conclusion: PA can be effectively classified with the help of IHC. Intraoperative cytology is important in diagnosing PA, but histopathology remains the gold standard in diagnosing and differentiating PA from other pathologies of the pituitary gland. The radiological grading together with immunological classification and the prognostic markers of Ki-67 is important in deciding the benign or atypical nature of the adenomas thus helping in better patient management.
Increased Serum Interleukin-34 in Patients with Coronary Artery Disease

Objective: This study investigated levels of interleukin (IL)-34, a proinflammatory cytokine, in patients with coronary artery disease (CAD). Methods: Following coronary artery angiography, 91 patients with CAD (including stable and unstable angina pectoris) were divided into two groups, the CAD group (coronary artery stenosis ≥ 50%) and the control group (coronary artery stenosis < 50%). Serum levels of factors including IL-34 and high sensitivity C-reactive protein (hs-CRP) were measured. Results: IL-34 and hs- CRP levels were significantly higher in the CAD group than in the control group (191.3 ± 17.9 pg/ml versus 125.4 ± 14.8 pg/ml and 3.08 ± 1.81 mg/ml versus 1.42 ± 1.01 mg/ml, respectively), with a significantly positive correlation between IL-34 and hs-CRP levels in the CAD group. Multiple regression analysis showed that IL-34 and hs-CRP levels were independent predictors of CAD (IL-34: odds ratio [OR] 2.073, 95% confidence intervals (CI) 1.419, 2.672; hs-CRP: OR 1.878, 95% CI 1.172, 2.531). Conclusions: IL-34 levels were significantly increased in patients with CAD, and positively correlated with hs- CRP levels, suggesting that IL-34 may be an independent predictor of CAD.
Entropy-driven tension and bending elasticity in condensed-fluid membranes.

Sensitive micropipet methods have been used to measure the relation between tension and the projected surface area in fluid membranes of vesicles over a 4-order-of-magnitude range in tension (10 −3 -10 dyn/cm). In the low-tension regime (<0.5 dyn/cm), the data confirm the prediction of equilibrium theory that the projected area should increase logarithmically with tension as shape fluctuations become progressively restricted
Student Research Projects in System Design

Set of switches mutual locking devices, comprising switches with actuator toggles and locking elements, each of the switches having a rocker supported by an elastic element and having Bowden type cables to be connected to the two arms of the rockers, the free end of a first cable of a switch being operationally connected to elements of actuation of a second switch and the free end of a second cable being operationally connected to the elements of actuation of a third switch, and the rockers being loaded at their ends to come into operational contact with the locking elements.
Mutations in the glucocerebrosidase gene are common in patients with Parkinson's disease from Eastern Canada

Background: Mutations in the β-glucocerebrosidase gene (GBA) have been implicated as a risk factor for Parkinson's disease (PD). However, GBA mutations in PD patients of different ethnic origins were reported to be inconsistent. Methods: We sequenced all exons of the GBA gene in 225 PD patients and 110 control individuals from Eastern Canada. Result: Two novel GBA variants of c. -119 A/G and S(-35)N, five known GBA mutations of R120W, N370S, L444P, RecNciI and RecTL mutation (del55/D409H/RecNciI) as well as two non-pathological variants of E326K and T369M were identified from PD patients while only one mutation of S13L and two non-pathological variants of E326K and T369M were found in the control individuals. The frequency of GBA mutations within PD patients (4.4%) is 4.8 times higher than the 0.91% observed in control individuals (X2 = 2.91, p = 0.088; odds ratio = 4.835; 95% confidence interval = 2.524–9.123). The most common mutations of N370S and L444P accounted for 36.0% (9/25) of all the GBA mutations in this Eastern Canadian PD cohort. The frequency (6.67%) of E326K and T369M in PD patients is comparable to 7.27% in control individuals (X2 = 0.042, p = 0.8376), further supporting that these two variants have no pathological effects on PD. Phenotype analysis showed that no significant difference in family history, age at onset and cognitive impairment was identified between the GBA mutation carriers and non-GBA mutation carriers. Conclusion: GBA mutations were found to be a common genetic risk factor for PD in Eastern Canadian patients.