Miracle-dz/UniFAR-FTUs huggingface dataset:
Oxygraphy Versus Enzymology for the Biochemical Diagnosis of Primary Mitochondrial Disease

Primary mitochondrial disease (PMD) is a large group of genetic disorders directly affecting mitochondrial function. Although next generation sequencing technologies have revolutionized the diagnosis of these disorders, biochemical tests remain essential and functional confirmation of the critical genetic diagnosis. While enzymological testing of the mitochondrial oxidative phosphorylation (OXPHOS) complexes remains the gold standard, oxygraphy could offer several advantages. To this end, we compared the diagnostic performance of both techniques in a cohort of 34 genetically defined PMD patient fibroblast cell lines. We observed that oxygraphy slightly outperformed enzymology for sensitivity (79 ± 17% versus 68 ± 15%, mean and 95% CI), and had a better discriminatory power, identifying 58 ± 17% versus 35 ± 17% as “very likely” for oxygraphy and enzymology, respectively. The techniques did, however, offer synergistic diagnostic prediction, as the sensitivity rose to 88 ± 11% when considered together. Similarly, the techniques offered varying defect specific information, such as the ability of enzymology to identify isolated OXPHOS deficiencies, while oxygraphy pinpointed PDHC mutations and captured POLG mutations that were otherwise missed by enzymology. In summary, oxygraphy provides useful information for the diagnosis of PMD, and should be considered in conjunction with enzymology for the diagnosis of PMD.
Assessment of Preoperative Condition and Postoperative Outcome in Nonsmall Cell Lung Cancer Surgery

textabstractComplete surgical resection still represents the main curative treatment modality for patients with early-stage nonsmall cell lung cancer. Despite tremendous advances in perioperative and postoperative care, postoperative outcome is still disappointing. Although pathological tumor stage is the most important prognostic parameter in nonsmall cell lung cancer, additional parameters are required to explain the large variability in postoperative outcome. Therefore, assessment of preoperative condition and postoperative outcome in patients undergoing surgery is a challenging area. The research summarized in this thesis describes preoperative risk assessment, including preoperative staging, and early and late postoperative outcome. This may help the clinician in clinical decision-making and treatment tailoring.
Clinical courses and degradation patterns of absorbable plates in facial bone fracture patients

Background Absorbable plates are widely used in open reduction and internal fixation surgeries for facial bone fractures. Absorbable plates are made of polyglycolic acid (PGA), polylactic acid (PLA), polydioxane (PDS), or various combinations of these polymers. The degradation patterns of absorbable plates made from different polymers and clinical courses of patients treated with such plates have not been fully identified. This study aimed to confirm the clinical courses of facial bone fracture patients using absorbable plates and compare the degradation patterns of the plates. Methods A retrospective chart review was conducted for 47 cases in 46 patients who underwent open reduction and internal fixation surgery using absorbable plates to repair facial bone fractures. All surgeries used either PLA/PGA composite-based or poly-L-lactic acid (PLLA)/hydroxyapatite (HA) composite-based absorbable plates and screws. Clinical courses were confirmed and comparisons were conducted based on direct observation. Results There were no naturally occurring foreign body reactions. Post-traumatic inflammatory responses occurred in eight patients (nine cases), in which six recovered naturally with conservative treatment. The absorbable plates were removed from two patients. PLA/PGA composite-based absorbable plates degraded into fragments with non-uniform, sharp surfaces whereas PLLA/HA composite-based absorbable plates degraded into a soft powder. Conclusion PLA/PGA composite-based and PLLA/HA composite-based absorbable plates showed no naturally occurring foreign body reactions and showed different degradation patterns. The absorbable plate used for facial bone fracture surgery needs to be selected in consideration of its degradation patterns.
Clinical FDG‐PET Findings in Patients with Temporal Lobe Epilepsy: Concordance with EEG and MRI

We aimed to study the yield of PET in temporal lobe epilepsy (TLE) by analyzing the correlation of PET findings with MRI, and interictal and ictal EEG findings, in a single‐center cohort of patients with TLE. Predictors of PET thalamic changes and its role in predicting postsurgical outcome were also studied.
The immunoexpression of aquaporin 1, PAX2, PAX8, connexin 36, connexin 43 in human fetal kidney.

INTRODUCTION The kidney develops from two mesodermal primordia. Aquaporin 1 (AQP1) is a membrane protein characteristic to epithelial and endothelial cell of the human body. The Pax family of genes encodes transcription factors with important role in intrauterine development. Connexins are transmembrane proteins found in gap junctions. We monitored the changes in the expression of AQP1, paired box gene 2 (PAX2), paired box gene 8 (PAX8), connexin 36 (Cx36) and connexin 43 (Cx43) proteins in fetal renal tissue. MATERIALS AND METHODS We studied 34 post mortem fetuses of 9 to 24 weeks from the Laboratory of Pathology, Emergency County Hospital of Târgu Mureş, Romania, using immunohistochemistry. RESULTS AQP1 expression appeared in the apical and basolateral parts of cells, lining the proximal convoluted tubules and the descending limb of Henle's loop, then in the tubule pole of Bowman's capsule also. Nuclear expression of PAX2 was observed in structures developed both from the ureteric bud and the metanephric mesenchyme, and of PAX8 was observed in the proximal convoluted tubule's epithelium, Henle's loop, and collecting ducts. Cytoplasmic expression of Cx36 was localized to nephrons in different developmental stages, glomerular vessels and collecting ducts, and of Cx43 was localized to the endothelium of glomerular and peritubular vessels, as well as to the epithelium of the proximal tubules. DISCUSSIONS AND CONCLUSIONS Nephrogenesis begins in the embryonic period, and continues into the fetal period as well. It is regulated by a wide array of markers. The current study supplements literature data regarding immunoexpression of these markers during renal development in the fetal period.
Fresh Frozen Plasma versus Crystalloid Priming of Cardiopulmonary Bypass Circuit in Pediatric Surgery: A Randomized Clinical Trial.

WHAT WE ALREADY KNOW ABOUT THIS TOPIC Fresh frozen plasma is often used to prime the cardiopulmonary bypass circuit for pediatric cardiac surgical patients to help offset dilutional coagulopathy that might result in increased perioperative bleeding and allogeneic blood transfusionPrior randomized trials of crystalloid versus fresh frozen plasma prime have reported conflicting results, but the vast majority of these studies were not blinded WHAT THIS ARTICLE TELLS US THAT IS NEW: In this double-blind randomized controlled trial of patients undergoing pediatric cardiac surgery with cardiopulomonary bypass, postoperative bleeding and the need for allogeneic blood products does not differ significantly between patients for whom the cardiopulmonary bypass circuit was primed with crystalloid versus fresh frozen plasma BACKGROUND:: In congenital cardiac surgery, priming cardiopulmonary bypass (CPB) with fresh frozen plasma (FFP) is performed to prevent coagulation abnormalities. The hypothesis was that CPB priming with crystalloids would be different compared with FFP in terms of bleeding and/or need for blood product transfusion. METHODS In this parallel-arm double-blinded study, patients weighing between 7 and 15 kg were randomly assigned to a CPB priming with 15 ml · kg PlasmaLyte or 15 ml · kg FFP in addition to a predefined amount of packed red blood cells used in all patients. The decision to transfuse was clinical and guided by point-of-care tests. The primary endpoints included postoperative bleeding tracked by chest tubes, number of patients transfused with any additional blood products, and the total number of additional blood products administered intra- and postoperatively. The postoperative period included the first 6 h after intensive care unit arrival. RESULTS Respectively, 30 and 29 patients in the FFP and in the crystalloid group were analyzed in an intention-to-treat basis. Median postoperative blood loss was 7.1 ml · kg (5.1, 9.4) in the FFP group and 5.7 ml · kg (3.8, 8.5) in the crystalloid group (P = 0.219); difference (95% CI): 1.2 (-0.7 to 3.2). The proportion of patients additionally transfused was 26.7% (8 of 30) and 37.9% (11 of 29) in the FFP and the crystalloid groups, respectively (P = 0.355; odds ratio [95% CI], 1.7 [0.6 to 5.1]). The median number of any blood products transfused in addition to priming was 0 (0, 1) and 0 (0, 2) in the FFP and crystalloid groups, respectively (P = 0.254; difference [95% CI], 0 [0 to 0]). There were no study-related adverse events. CONCLUSIONS The results demonstrate that in infants and children, priming CPB with crystalloids does not result in a different risk of postoperative bleeding and need for transfusion of allogeneic blood products.
A fuzzy optimization approach to the capacitated node-routing problem for municipal solid waste collection with multiple tours: A case study

In many countries, municipal solid waste management is considered a very important challenge, and the most relevant costs in this field are dedicated to the collection process. Therefore, this study aimed to propose a mathematical model with multiple depots and multiple intermediate facilities to minimize fixed and variable costs of waste collection. Intermediate facilities are used in the developed countries in their waste collection network, because these facilities reduce the long-term costs of waste management and increase the quality of the waste collection process. Also, in reality, the amount of waste generated per day is not deterministic, so, to cope with the issue of uncertainty in the amount of waste, a fuzzy optimization approach was considered. Furthermore, a system where vehicles that could collect the wastes in multiple tours, with a maximum number of tours for each vehicle, was also considered. Due to the high complexity of this model, a genetic algorithm was elaborated. Further, the efficiency of the proposed algorithm was confirmed by comparison with the exact solution in small dimensions. It should be noted that the initial solution of this algorithm was obtained by a proposed heuristic algorithm. Finally, a case study on the vehicle routing of municipal solid waste was conducted in a district of Tehran, Iran. Moreover, the solutions of the model were validated by comparing the results of the proposed model and the current real-life situation. The contractors could improve vehicle routes and reduce costs by implementing the results of the proposed model, without any additional cost.
Survival of chinook salmon , Oncorhynchus tshawytscha , from a spawning tributary of the Rakaia Rivet . New Zealand , in relation to spring and summer mainstem flows

-To characterize the impact of spring floods on the survival of juvenile chinook salmon in the unstable, braided rivers on the east coast ofNew Zealand's South Island, I examined correlations between spring and summer flows in the mainstem of the Rakaia River and fry-to-adult survival for chinook salmon spawning in a headwater tributary. Flow parameters that were investigated included mean flow, maximum flow, and the ratio of mean to median flow (an index of flow variability), calculated during peak downriver migration ofocean-type juveniles (August to January). Survival was uncorrelated with mean or maximum flow but was positively correlated with the ratio of mean to median flow during spring (October and November). The correlation suggests that pulses of freshwater entering the ocean during floods may butTer the transition of fingerlings from fresh to saline waters and thus partly compensate for the lack of an estuary on the Rakaia River. A positive correlation between spring flow variability and the proportion ofoceantype chinook in relation to stream-type chinook is also consistent with this hypothesis. All correlations were relatively weak. reinforcing earlier results that production is primarily controlled by marine influences. These findings further demonstrate the considerable ability of chinook salmon to adapt to
Redefining Hypoglycemia in Clinical Trials: Validation of Definitions Recently Adopted by the American Diabetes Association/European Association for the Study of Diabetes

OBJECTIVE To determine if the International Hypoglycaemia Study Group (IHSG) level 2 low glucose definition can identify clinically relevant hypoglycemia in clinical trials and offer value as an end point for future trials. RESEARCH DESIGN AND METHODS A post hoc analysis was performed of the SWITCH (SWITCH 1: n = 501, type 1 diabetes; SWITCH 2: n = 721, type 2 diabetes) and DEVOTE (n = 7,637, type 2 diabetes) trials utilizing the IHSG low glucose definitions. Patients in all trials were randomized to either insulin degludec or insulin glargine 100 units/mL. In the main analysis, the following definitions were compared: 1) American Diabetes Association (ADA) 2005 (plasma glucose [PG] confirmed ≤3.9 mmol/L with symptoms); and 2) IHSG level 2 (PG confirmed <3.0 mmol/L, independent of symptoms). RESULTS In SWITCH 2, the estimated rate ratios of hypoglycemic events indicated increasing differences between treatments with decreasing PG levels until 3.0 mmol/L, following which no additional treatment differences were observed. Similar results were observed for the SWITCH 1 trial. In SWITCH 2, the IHSG level 2 definition produced a rate ratio that was lower than the ADA 2005 definition. CONCLUSIONS The IHSG level 2 definition was validated in a series of clinical trials, demonstrating its ability to discriminate between basal insulins. This definition is therefore recommended to be uniformly adopted by regulatory bodies and used in future clinical trials.
Functional Outcomes and Complications Following Scapulothoracic Arthrodesis in Patients with Facioscapulohumeral Dystrophy.

BACKGROUND Facioscapulohumeral dystrophy (FSHD) is an autosomal-dominant myopathy characterized by facial and shoulder girdle muscle weakness with scapular winging. Scapulothoracic arthrodesis is a successful treatment approach for patients with <90° of shoulder elevation. The purpose of the present study was to assess functional outcomes and complications following scapulothoracic arthrodesis in patients with FSHD. METHODS We retrospectively reviewed the records of 40 patients (64 shoulders) in whom scapulothoracic arthrodesis was performed. To achieve fusion, multiple multifilament cables were used together with autologous bone and allograft bone. Preoperative and postoperative shoulder elevation and abduction; Disabilities of the Arm, Shoulder and Hand (Quick version, qDASH) scores; and pulmonary function were compared. Recorded complications were classified as pulmonary or scapular. RESULTS The mean age of the patients at the time of the operation was 25.4 years (range, 15 to 60 years), and the mean duration of follow-up was 71.2 months (range, 12 to 185 months). When the preoperative values were compared with those at the latest follow-up, significant improvement was noted in terms of elevation (from a mean [and standard deviation] of 60.6° ± 17.2° to 123.7° ± 26.7°; p < 0.001), abduction (from 52.7° ± 15.8° to 98.8° ± 20.3°; p < 0.001), and qDASH scores (from 34.7 ± 11.4 to 13.3 ± 13.1; p < 0.001). The overall complication rate was 26.6%. There were 7 pulmonary complications (4 pneumothoraxes, 2 pleural effusions, and 1 major atelectasis), and 5 chest tube placements were required. Ten complications (including 3 rib fractures, 1 brachial plexus palsy, 2 cases of implant irritation, 2 nonunions, 1 delayed union, and 1 scapular fracture) were related to the scapular fixation, and 7 revision procedures were required. Scapulothoracic fusion was achieved in all patients but 1, who had a scapular fracture. Pulmonary function tests were performed for 19 patients, and no difference was observed between preoperative and postoperative results. CONCLUSIONS Scapulothoracic arthrodesis with use of multifilament cables is a successful surgical technique with high fusion rates and low morbidity. Pulmonary complications are common but resolve with careful attention. LEVEL OF EVIDENCE Therapeutic Level IV. See Instructions for Authors for a complete description of levels of evidence.
The effect of 6-week hopping exercises program on joint position sense in athletes with functional ankle instability

Introduction: The purpose of this study was to examine the effect of 6 weeks hopping exercises program on joint position sense in young male athletes with functional ankle instability. Materials and Methods: Thirty young male athletes with functional ankle instability (mean ± SD age; 22.16 ± 1.46 years, mean ± SD weight; 73.96 ± 11.50 kg, mean ± SD height; 180.95±8.24 cm, mean ± SD instability score; 20 ± 2.31) were participated in this study. They all read and signed the consent form. Participants were equally and randomly divided into two following groups: 1) hopping exercise, and 2) control. Reproduction of ankle joint angle was used to evaluate joint position sense before and just after exercise program. Descriptive statistic, paired sample t-test and Independent sample t-test were used to analyze the data. Level of significance was set at P < 0.05. Results: The results of the study showed that 6 weeks hopping exercise program had a significant decrease in average absolute error of the reproduction of ankle joint angle in inversion and plantar flexion (P < 0.05). Furthermore, reduce in absolute error of joint angle reproduction was observed more in inversion than plantar flexion. Conclusion: According to the results, young male athletes with functional ankle instability need specific joint position sense in many skills. So, it could be suggested to use these selected exercise in training and rehabilitation programs to improve joint stability during fast and rapid activities. Keywords: Hopping exercises, Joint position sense, Functional ankle instability, Young athlete
Experimental infection of Mytilus edulis by two Vibrio splendidus-related strains: Determination of pathogenicity level of strains and influence of the origin and annual cycle of mussels on their sensitivity.

This study aimed at assessing the pathogenicity of two Vibrio splendidus-related species and evaluating the influence of the origin and annual life cycle of mussels on their sensitivity during a bacterial challenge. Thus, in vivo infection assays were made with Vibrio crassostreae 7T4_12 and Vibrio splendidus 3G1_6, over, respectively, thirteen and 9 months, on adult blue mussels from five recruitment areas in France. Two bacterial concentrations were tested: one consistent with the loads of Vibrio spp. in environment and mussel tissues (~105 CFU/ml) and another one much higher (~108 CFU/ml). The tested environmental concentration has no pathogenic effect whatever the time of year, the strain used and the origin of mussels. However, at the highest concentration, a pathogenic effect was observed only at specific moments, and one of the origins appeared to be more resistant. The physiological state of mussels-depending on the time of year-seemed significant in mussels' sensitivity, as their recruitment origin. This study is the first to test the pathogenicity of V. splendidus-related strains at concentrations close to what is found in the wild, over the annual cycle of mussels, and considering their origin.
Identification of Ixodes holocyclus by DNA sequencing: Application for suspected tick envenomation in a dog living outside an enzootic area

This report describes the use of DNA sequencing to identify Ixodes holocyclus as the cause of suspected tick paralysis in a dog that lived outside an enzootic area. The dog had not recently visited a known enzootic area or a predicted core area for this species of tick. Species differentiation of paralysis ticks, I. holocyclus and I. cornuatus can be difficult. The use of DNA sequences to definitively identify the species of tick causing paralysis in Victoria will allow new information to be gained about the distribution of I. holocyclus and I. cornuatus and assist in identifying differences in clinical disease caused by these species. This case also serves as a reminder that vector-borne diseases should be considered as a differential diagnosis despite the animal living outside a known enzootic area.
Faktor-faktor yang Mempengaruhi Ibu dalam Pengambilan Keputusan Memilih Alat Kontrasepsi dalam Rahim (AKDR) di Wilayah Bidan Praktik Swasta Titik Sri Suparti Boyolali

Abstrak Makin menurunnya peserta Intra Uterine Device (IUD) atau AKDR, dan meningkatnya pengguna pil dan suntik serta animo yang tinggi terhadap ' implant merupakan salah satu bukti kesertaan masyarakat dalam ber-KB belum mempertimbangkan rasionalitas, efektivitas, dan efisiensi. Menurut survey pendahuluan di BPS Titik Sri Suparti Boyolali yang dilaksanakan pada tanggal 13 Desember 2007 tentang faktor-faktor yang mempengaruhi ibu memilih AKDR hasilnya yaitu karena efektif, efisien, tidak cocok dengan kontrasepsi lain, dan pernah mengalami kegagalan KB suntik. Penelitian ini bertujuan untuk mengetahui bahwa faktor pribadi, faktor kesehatan, faktor ekonomi, dan faktor efektifitas mempengaruhi ibu dalam pengambilan keputusan memilih alat kontrasepsi dalam rahim. Penelitian ini menggunakan metode deskriptif kualitatif yang berlokasi di Wilayah BPS Titik Sri Suparti Boyolali, Desa Tabang Wetan, Kecamatan Musuk, Kabupaten Boyolali dan dilaksanakan pada bulan Oktober - Nopember 2007. Sedangakan informan dalam penelitian ini adalah ibu yang menjadi akseptor KB AKDR dengan pengambilan sample menggunakan accidental sampling. Pengambilan data pada informan penelitian menggunakan metode diskusi kelompok tearah dan wawancara mendalam. Beberapa faktor dari pribadi yang mempengaruhi sebagian besar ibu memilih AKDR di BPS Titik Sri Suparti diantaranya adalah faktor usia, faktor paritas / jumlah kelahiran anak, faktor tujuan reproduksi dan faktor pengaruh dari orang lain. Sedangkan untuk faktor hubungan sanggama tidak mempengaruhi untuk memilih AKDR. Selain itu faktor kesehatan, faktor ekonomi, dan faktor efektifitas juga mempengaruhi sebagian besar ibu untuk memilih AKDR. Hasil penelitian dapat disimpulkan bahwa faktor-faktor yang mempengaruhi ibu dalam pengambilan keputusan memilih AKDR di BPS Titik Sri Suparti diantaranya adalah faktor usia, faktor paritas / jumlah kelahiran anak, faktor tujuan reproduksi, dan faktor pengaruh orang lain yang termasuk dalam faktor pribadi, selain itu faktor kesehatan, faktor ekonomi, dan faktor efektifitas. Kata Kunci : Faktor-faktor yang mempengaruhi. AKDR