Improvement in functional motor scores in patients with non-ambulatory spinal muscle atrophy during Nusinersen treatment in South Korea: a single center study.

We analyzed the changes in various motor function scores over a four-year period in patients with non-ambulatory spinal muscular atrophy (SMA) during Nusinersen treatment. Patients underwent Hammersmith Infant Neurological Examination (HINE) or Hammersmith Functional Motor Scale Expanded (HFMSE) before treatment, and approximately every 4 months thereafter. Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) or Children's Hospital of Philadelphia - Adult Test of Neuromuscular Disorders (CHOP ATEND), Revised Upper Limb Module (RULM), and Motor Function Measure (MFM) were performed based on baseline functional status. Narrative interviews were conducted to explore post-treatment physical improvement regarding activities of daily living (ADLs) and fatigue after ADLs. Based on HFMSE results, 9 patients achieved minimum clinically important differences. Average rates of change (slopes) with corresponding 95% confidence intervals for all assessment tools were in a positive direction. CHOP-INTEND showed the most prominent improvement in children and adolescents followed by HFMSE. Improvements in CHOP-ATEND were most noticeable in adults. Improvements were accompanied by changes in ADLs as observed in the narrative interviews. It is necessary to consider various functional aspects to determine the effectiveness of Nusinersen therapy. The objective assessment of the therapeutic effect of Nusinersen in non-ambulatory SMA requires consideration of functional aspects and the related ADLs.

Pyeloduodenal fistula successfully treated by endoscopic ligation without surgical nephrectomy: case report.

A 74-yr-old woman presented with fever and abdominal discomfort. She was in a septic condition caused by urinary tract infection. Her computed tomogram of the abdomen revealed features of hydronephrosis with ureteral stones in both kidneys. During percutaneous nephrostomies, right pyeloduodenal fistula (PDF) was diagnosed. Elective surgery was originally planned but the patient was in a poor condition to undergo surgery. Instead, 2 times endoscopic clipping and ligation by endoloop were applied with parenteral antibiotics for the fistula lesion. On admission day 30, she was discharged from the hospital after confirmation of no more contrast leakage on fistulography. We reviewed the literature and discuss the etiologies, clinical presentations, diagnosis, and treatment of PDF.

Decreased renal function is an independent predictor of severity of coronary artery disease: an application of Gensini score.

Coronary artery disease (CAD) is the leading cause of death in patients with chronic kidney disease (CKD).Although many studies have shown a higher prevalence of CAD among these patients, the association between the spectrum of renal dysfunction and severity of CAD remains unclear. In this study, we investigate the association between renal function and the severity of CAD. We retrospectively reviewed the medical records of 1,192 patients who underwent elective coronary angiography (CAG). The severity of CAD was evaluated by Gensini score according to the degree of luminal narrowing and location(s) of obstruction in the involved main coronary artery. In all patients, the estimated glomerular filtration rate (eGFR) was independently associated with Gensini score (ß=-0.27, P < 0.001) in addition to diabetes mellitus (ß=0.07, P = 0.02), hypertension (ß=0.12, P < 0.001), low density lipoprotein (LDL)-cholesterol (ß=0.08, P = 0.003), and hemoglobin (ß=-0.07, P = 0.03) after controlling for other confounding factors. The result of this study demonstrates that decreased renal function is associated not only with the prevalence, but also the severity, of CAD.

Dose response analysis program (DREAP): A user-friendly program for the analyses of radiation-induced biological responses utilizing established deterministic models at cell population and organ scales.

PURPOSE: To develop a user-friendly program for biological modeling to analyze radiation-induced responses at the scales of the cell population and organ. METHODS: The program offers five established cell population surviving fraction (SF) models to estimate the SF and the relative biological effectiveness (RBE) from clonogenic assay data, and two established models to calculate the normal tissue complication probability (NTCP) and tumor control probability (TCP) from radiation treatment plans. Users can also verify the results with multiple types of quantitative analyses and graphical representation tools. RESULTS: Users can verify the estimated SF, model parameters, RBE, and the respective uncertainties in the calculations of the SF and RBE modes. The qualities of the treatment plans can also be compared with at most three rival plans in terms of the NTCP, TCP, uncomplicated TCP (UCP), and user-dependent weight-based UCP (UUCP), in the calculation of the NTCP and TCP modes. Based on the validation study on accuracy and speed, the averaged mean relative errors (MREs) of the estimated parameters for all tested cell lines were not higher than 0.3% in each of the studied SF models, and the averaged MREs of the calculated NTCP and TCP for all tested treatment plans were not higher than 0.1%. The computation times for SF, RBE, NTCP, and TCP were less than 1.5 s. CONCLUSIONS: The dose response analysis program can provide a trustworthy and convenient environment for researchers to analyze radiation-induced biological effects.

Myasthenic crisis after a renal transplant successfully treated with intravenous immunoglobulin.

Myasthenia gravis is an autoimmune disease characterized by muscle weakness. Myasthenic crisis is a life-threatening complication of myasthenia gravis precipitated by several factors. We experienced a myasthenic crisis after a deceased-donor kidney transplant in a 35-year-old woman who already had been diagnosed with myasthenia gravis. She received mechanical ventilatory support and intravenous immunoglobulin for treatment of the myasthenic crisis. During the early posttransplant period, she recovered with immediate graft function, and her graft functioning did not deteriorate during the myasthenic crisis. We suggest that physicians be aware of worsening of myasthenia gravis when patients with myasthenia gravis undergo a kidney transplant.

The modified chimney technique with a thoracic aortic stent graft to preserve the blood flow of the left common carotid artery for treating descending thoracic aortic aneurysm and dissection.

While thoracic endovascular aortic repair is an effective treatment option for descending thoracic aorta pathology, it does have limitations. The main limitation is related to the anatomical difficulties when disease involves the aortic arch. A fenestrated, branched aortic stent graft and hybrid operation has been introduced to overcome this limitation, but it is a custom-made device and is time consuming to manufacture. Furthermore, these devices cannot be used in an emergency setting. We report two patients with massive descending thoracic aortic aneurysm and ruptured aortic dissection very near the aortic arch who underwent a procedure which we named the modified chimney technique. The modified chimney technique can be used as a treatment option in such an emergency situation or as a rescue procedure when aortic pathology is involved near the supra-aortic vessels.

Predictor of severe gastroduodenal toxicity after stereotactic body radiotherapy for abdominopelvic malignancies.

PURPOSE: To identify the predictors for the development of severe gastroduodenal toxicity (GDT) in patients treated with stereotactic body radiotherapy (SBRT) using 3 fractionations for abdominopelvic malignancies. METHODS AND MATERIALS: From 2001 to 2011, 202 patients with abdominopelvic malignancies were treated with curative-intent SBRT. Among these patients, we retrospectively reviewed the clinical records of 40 patients with the eligibility criteria as follows: 3 fractionations, follow-up period≥1 year, absence of previous radiation therapy (RT) history or combination of external-beam RT and the presence of gastroduodenum (GD) that received a dose higher than 20% of prescribed dose. The median SBRT dose was 45 Gy (range, 33-60 Gy) with 3 fractions. We analyzed the clinical and dosimetric parameters, including multiple dose-volume histogram endpoints: V20 (volume of GD that received 20 Gy), V25, V30, V35, and Dmax (the maximum point dose). The grade of GDT was defined by the National Cancer Institute Common Toxicity Criteria version 4.0, and GDT≥grade 3 was defined as severe GDT. RESULTS: The median time to the development of severe GDT was 6 months (range, 3-12 months). Severe GDT was found in 6 patients (15%). Dmax was the best dosimetric predictor for severe GDT. Dmax of 35 Gy and 38 Gy were respectively associated with a 5% and 10% probability of the development of severe GDT. A history of ulcer before SBRT was the best clinical predictor on univariate analysis (P=.0001). CONCLUSIONS: We suggest that Dmax is a valuable predictor of severe GDT after SBRT using 3 fractionations for abdominopelvic malignancies. A history of ulcer before SBRT should be carefully considered as a clinical predictor, especially in patients who receive a high dose to GD.

Gastric duplication cyst removed by endoscopic submucosal dissection.

Duplication cysts are uncommon congenital malformations that may occur anywhere throughout the alimentary tract. The stomach is an extremely rare site of occurrence. Here, we report a case of gastric duplication cyst initially presenting with a gastric submucosal tumor. A 28-year-old man complained of dyspepsia lasting 1 year and upper endoscopy revealed an ellipsoid submucosal tumor at the greater curvature of the antrum. We intended to use the injection-and-cut technique: however, after saline injection, the lesion was dented and impossible to grasp with a snare. Therefore, we decided to perform endoscopic submucosal dissection and removed the tumor without complication. Histopathology revealed a 0.6×0.6 cm-sized duplication cyst, and there has been no recurrence in 2 years.