998 research outputs found

    Depression and suicide risk prediction models using blood-derived multi-omics data

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    More than 300 million people worldwide experience depression; annually, ~800,000 people die by suicide. Unfortunately, conventional interview-based diagnosis is insufficient to accurately predict a psychiatric status. We developed machine learning models to predict depression and suicide risk using blood methylome and transcriptome data from 56 suicide attempters (SAs), 39 patients with major depressive disorder (MDD), and 87 healthy controls. Our random forest classifiers showed accuracies of 92.6% in distinguishing SAs from MDD patients, 87.3% in distinguishing MDD patients from controls, and 86.7% in distinguishing SAs from controls. We also developed regression models for predicting psychiatric scales with R2 values of 0.961 and 0.943 for Hamilton Rating Scale for Depression???17 and Scale for Suicide Ideation, respectively. Multi-omics data were used to construct psychiatric status prediction models for improved mental health treatment

    A novel de novo mutation in the serine-threonine kinase STK11 gene in a Korean patient with Peutz-Jeghers syndrome

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    BACKGROUND: Peutz-Jeghers syndrome (PJS) is an unusual autosomal dominant disorder characterized by mucocutaneous pigmentation and multiple gastrointestinal hamartomatous polyps. Patients with PJS are at an increased risk of developing multi-organ cancer, most frequently those involving the gastrointestinal tract. Germline mutation of the STK11 gene, which encodes a serine-threonine kinase, is responsible for PJS. METHODS: Using DNA samples obtained from the patient and his family members, we sequenced nine exons and flanking intron regions of the STK11 gene using polymerase chain reaction (PCR) and direct sequencing. RESULTS: Sequencing of the STK11 gene in the proband of the family revealed a novel 1-base pair deletion of guanine (G) in exon 6 (c.826delG; Gly276AlafsX11). This mutation resulted in a premature termination at codon 286, predicting a partial loss of the kinase domain and complete loss of the C-terminal domain. We did not observe this mutation in both parents of the PJS patient. Therefore, it is considered a novel de novo mutation. CONCLUSION: The results presented herein enlarge the spectrum of mutations of the STK11 gene by identifying a novel de novo mutation in a PJS patient and further support the hypothesis that STK11 mutations are disease-causing mutations for PJS with or without a positive family history

    Analysis of Initial Baseline Clinical Parameters and Treatment Strategy Associated with Medication Failure in the Treatment of Benign Prostatic Hyperplasia in Korea

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    Purpose To analyze the baseline clinical factors and medication treatment strategy used in cases with medication treatment failure of benign prostatic hyperplasia (BPH). Methods From January 2006 to December 2009, 677 BPH patients with at least 3 months of treatment with medication were enrolled. We analyzed clinical factors by medication failure (n=161) versus maintenance (n=516), by prostate size (less than 30 g, n=231; 30 to 50 g, n=244; greater than 50 g, n=202), and by prostate-specific antigen (PSA) levels (less than 1.4 ng/mL, n=324; more than 1.4 ng/mL, n=353). Results Age, combination medication rate, PSA, and prostate volume were statistically different between the medication treatment failure and maintenance groups. By prostate size, the PSA and medication failure rates were relatively higher and the medication period was shorter in patients with a prostate size of more than 30 g. The combination medication rate was higher in patients with a prostate size of more than 50 g. The medication failure rate and prostate volume were higher in patients with a PSA level of more than 1.4 ng/mL. However, the combination treatment rate was not significantly different in patients with a PSA level lower than 1.4 ng/mL. Suggestive cutoffs for combination medication are a prostate volume of 34 g and PSA level of 1.9 ng/mL. Conclusions The clinical factors associated with medication failure were age, treatment type, and prostate volume. Combination therapy should be considered more in Korea in patients with a PSA level higher than 1.4 ng/mL and a prostate volume of between 30 and 50 g to prevent medication failure

    FEASIBILITY STUDY ON EFFECT OF STRUCTURAL FLEXIBILITY OF ASYMMETRIC PRE-SWIRL STATOR ON PROPULSION PERFORMANCE FOR KRISO CONTAINER SHIP (KCS)

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    The use of energy-saving devices is the most effective method for decreasing CO2 emissions, which is an increasingly concerning environmental issue. The asymmetric pre-swirl stator has been developed as an energy-saving device and has been successfully applied to various types of vessels. In the present study, a flexible material was applied to an asymmetric pre-swirl stator to determine the variation in the flow around stator and its efficiency. A fluid–structure interaction (FSI) analysis system was developed using the Star-CCM+ (fluid) and the Abaqus (structure). The proposed analysis system was validated by comparing the experimental results using a flexible plate in a flowing fluid. The flexible stator was applied to a 3,600 TEU KRISO Container Ship to determine the improvement in its performance compared to the previous optimum value achieved with a rigid stator. Although this application was conducted on a model scale and the deformation was small, the results of the flexible stator indicated the possibility of not only increasing the efficiency but also decreasing the vortex risk around stator blade

    Neuropsychological Findings of Extrapontine Myelinolysis without Central Pontine Myelinolysis

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    Central pontine myelinolysis (CPM) and extrapontine myelinolysis (EPM) are well recognized syndromes related to the rapid correction of hyponatremia, which are reported to show brain stem signs and various movement disorders. Cognitive dysfunction and neuropsychological findings, however, have seldom been reported. Cognitive manifestations in osmotic myelinolysis may have been underestimated due to the prominent brain stem symptoms and movement disorders. We report a case of EPM without CPM and describe the neuropsychological findings of EPM. The absence of CPM in this case made it possible to test neuropsychological function in the acute stage

    Two Different Renal Cell Carcinomas and Multiple Angiomyolipomas in a Patient with Tuberous Sclerosis

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    We report a case of tuberous sclerosis associated with two histologically different renal cell carcinomas (RCCs) and multiple angiomyolipomas (AMLs) in the same kidney. A 43-year-old female was admitted to our hospital with left flank pain and a huge palpable mass in the left flank area. Abdominal computed tomography revealed two concurrent RCCs and multiple AMLs in the left kidney. Because of the clinical suspicion of RCC, the patient underwent left radical nephrectomy. On gross examination, the total size of the resected left kidney was 30.5×17×8 cm. Microscopically, the upper pole tumor features were consistent with chromophobe RCC and the midpole tumor was a clear-cell RCC. The multifocal masses in the remaining remnant parenchyma were AMLs. Six months after surgery, the patient is healthy without signs of tumor recurrence

    Arthroscopic Capsular Repair without Relaying Sutures: ‘Simple Sewing Technique’

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    We report a simple technique for repairing capsular tear, using only a hook-like, cannulated instrument and braided sutures without relaying steps. A No. 2 braided suture is passed through the lumen of the instrument. Under direct arthroscopic view, the tip of the instrument is passed through the side of the capsule that has previously been separated with the probe. One end of the suture is retrieved with a grasper through a separate portal. The tip is moved back without withdrawing through the skin, and reinserted into the other side of the capsule. Holding the end retrieved earlier, the other end of the suture is retrieved with a suture retriever. After complete removal of the instrument, the suture is tied through a cannula using the standard knot tying techniques. The same procedures are repeated for other required knots

    Rotating Arm Internally Can Change the Arthroscopic Diagnosis of a Partial-thickness Tear of the Subscapularis

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    Background The aims of this study were (1) to examine the footprint of the subscapularis tendon using the traditional posterior portal and 30° arthroscope by simple internal rotation of the arm during surgery, and (2) to classify the pattern of a subscapularis partial-thickness tear. Methods This study analyzed a total of 231 patients with a partial-thickness subscapularis tear from 550 consecutive patients undergoing an arthroscopic operation who had a visualization of the subscapularis tendon footprint by internal rotation of the arm. First, the patients were classified into four categories according to the tear pattern: (1) stable lamination, (2) unstable lamination, (3) avulsion, and (4) laminated avulsion. Randomized arthroscopic videos were reviewed blindly by two independent orthopedic surgeons. The pattern of the tear of the subscapularis at the neutral position and after internal rotating the arm were assessed and compared with the treatment decision (level IV case series). Results Stable lamination, unstable lamination, avulsion, and laminated avulsion were observed in 9.1% (n=21), 20.8% (n=48), 41.1% (n=95), and 29.0% (n=67) of cases, respectively. In 145 out of 231 cases (62.8%), the decision was changed after inspecting the footprint after internal rotation of the arm, and the treatment method was changed in 116 (50.2%) cases. Conclusions In a subscapularis tendon partial-thickness tear, inspecting the footprint of the subscapularis tendon is essential to diagnosing and deciding on the appropriate treatment. In addition, simply internal rotating the arm during surgery when using the traditional posterior portal and 30° arthroscope can be a valuable method

    Does robot-assisted laparoscopic radical prostatectomy enable to obtain adequate oncological and functional outcomes during the learning curve? From the Korean experience

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    To estimate the short-term results of robot-assisted laparoscopic radical prostatectomy (RALRP) during the learning curve, in terms of surgical, oncological and functional outcomes, we conducted a prospective survey on RALRP. From July 2007, a single surgeon performed 63 robotic prostatectomies using the same operative technique. Perioperative data, including pathological and early functional results of the patient, were collected prospectively and analyzed. Along with the accumulation of the cases, the total operative time, setup time, console time and blood loss were significantly decreased. No major complication was present in any patient. Transfusion was needed in six patients; all of them were within the initial 15 cases. The positive surgical margin rate was 9.8% (5/51) in pT2 disease. The most frequent location of positive margin in this stage was the lateral aspect (60%), but in pT3 disease multiple margins were the most frequent (41.7%). Overall, 53 (84.1%) patients had totally continent status and the median time to continence was 6.56 weeks. Among 17 patients who maintained preoperative sexual activity ( Sexual Health Inventory for Men \u3e = 17), stage below pT2, followed up for \u3e 6 months with minimally one side of neurovascular bundle preservation procedure, 12 (70.6%) were capable of intercourse postoperatively, and the mean time for sexual intercourse after operation was 5.7 months. In this series, robotic prostatectomy was a feasible and reproducible technique, with a short learning curve and low perioperative complication rate. Even during the initial phase of the learning curve, satisfactory results were obtained with regard to functional and oncological outcome
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