Nusinersen Treatment of Children with Later-Onset Spinal Muscular Atrophy and Scoliosis Is Associated with Improvements or Stabilization of Motor Function.

Nusinersen has been shown to improve or stabilize motor function in individuals with spinal muscular atrophy (SMA). We evaluated baseline scoliosis severity and motor function in nusinersen-treated non-ambulatory children with later-onset SMA. Post hoc analyses were conducted on 95 children initiating nusinersen treatment in the CHERISH study or SHINE long-term extension trial.

DEVOTE Study Exploring Higher Dose of Nusinersen in Spinal Muscular Atrophy: Study Design and Part A Results.

Background: Pharmacokinetic/pharmacodynamic modeling indicates that the higher dose of nusinersen may be associated with a clinically meaningful increase in efficacy above that seen with the 12-mg approved dose.

Objective: Here we describe both the design of DEVOTE (NCT04089566), a 3-part clinical study evaluating safety, tolerability, and efficacy of higher dose of nusinersen, and results from the initial Part A.

Methods: DEVOTE Part A evaluates safety and tolerability of a higher nusinersen dose; Part B assesses efficacy in a randomized, double-blind design; and Part C assesses safety and tolerability of participants transitioning from the 12-mg dose to higher doses.

A rare case of internal jugular vein dissection following central venous catheterization.

Central venous catheterization (CVC) is an important and common procedure performed for the purpose of drug administration, hemodynamic monitoring, emergency venous access, and extracorporeal intervention. We report a rare case of CVC prior to cardiac surgery, complicated by internal jugular venous dissection. A 66-year-old female was undergoing central venous catheterization prior to cardiac surgery.

Yolk Sac Tumor of the Omentum: A Case Report and Literature Review.

This is a case report of a rare finding of an extragonadal yolk sac tumor in a 37-year-old patient who presented with shortness of breath and abdominal bloating. During imaging and staging surgery, the findings were strongly suggestive of an extragonadal advanced tumor presenting with peritoneal dissemination, predominantly affecting omentum, with no clear primary origin. Histology revealed an extragonadal yolk sac tumor in a pure form outside the ovaries.

Predictive Score of Nodal Involvement in Endometrial Cancer Patients: A Large Multicentre Series.

Background: Sentinel lymph node (SLN) biopsy is considered the standard of care in early-stage endometrial cancer (EC). For SLN failure, a side-specific lymphadenectomy is recommended. Nevertheless, most hemipelvises show no nodal involvement.

Neuroendocrine small cell carcinoma of the cervix: A case report.

Merkel cell polyomavirus (MCPyV) has been found in patients with Merkel cell carcinoma and respiratory tract infections. Merkel cell carcinoma is a primary aggressive neuroendocrine carcinoma of the skin. It has been demonstrated that MCPyV can be transmitted during sexual activity and may be present in the oral and anogenital mucosa.

Obstetrics outcomes after complete and partial molar pregnancy: Review of the literature and meta-analysis.

The hydatidiform mole is a rare gynecological disease rising from the trophoblastic. Post-molar pregnancies have an extremely variable course, varying from repeated abortions, stillbirths, preterm births, live births, or recurring in further molar pregnancies. Literature on obstetric outcomes following molar pregnancy is poor, often including monocentric studies, and with data collected from national databases.

Safety and efficacy of nusinersen in spinal muscular atrophy: The EMBRACE study.

Introduction: The EMBRACE study (Clinical Trials No. NCT02462759) evaluated nusinersen in infants/children with infantile- or later-onset spinal muscular atrophy (SMA) who were ineligible for the ENDEAR and CHERISH studies.

Methods: Participants were randomized to intrathecal nusinersen (12-mg scaled equivalent dose; n = 14) or sham procedure (n = 7) in part 1 (~14 months) and subsequently received open-label nusinersen for ~24 months in part 2 of the study.

Sentinel node mapping in endometrial cancer: Tips and tricks to improve bilateral detection rate. The sentitricks study, a monocentric experience.

Objective: The objective of the study is to show some small tricks for bilateral sentinel lymph node (SLN) uptake in endometrial cancer.

Materials And Methods: Each step of the sentinel lymph node technique was analyzed. The cervix was exposed through the use of vaginal valves and by Martin pliers stapling of the anterior cervical lip.

Confounding factors of transvaginal ultrasound accuracy in endometrial cancer.

Endometrial cancer is the most frequently diagnosed gynecological tumour. Transvaginal ultrasound has a leading role in the preoperative evaluation of endometrial cancer patients. The study aimed to identify factors that can worsen the diagnostic accuracy of transvaginal ultrasound in endometrial cancer patients.

Novel preoperative predictive score to evaluate lymphovascular space involvement in endometrial cancer: an aid to the sentinel lymph node algorithm.

Introduction: Sentinel lymph node (SLN) dissection has been recognized as a valid tool for staging in patients with endometrial cancer. Several factors are predictors of recurrence and survival in endometrial cancer, including positive lymphovascular space invasion. The aim of this study is to formulate a pre-operative score that, in the event of no-SLN identification, may give an estimate of the true probability of lymphovascular space invasion and guide management.

Laparoscopy versus laparotomy for surgical treatment of obese women with endometrial cancer: A cost-benefit comparative analysis.

The aim of the present study was to demonstrate the cost of obese patients affected by endometrial cancer undergoing open surgery compared with minimally invasive surgery. In the retrospective cohort study (Canadian Task Force classification II-2), the economic expenditure in pre-operative, intra-operative and post-operative phases of the selected patients was evaluated. Costs were analyzed for all blood tests, instrumental examinations, consultations, operating materials, drugs, gynecological examinations, hospital stay, intensive care hospitalization and management of operative complications.

Endoscopic near infrared and indocyanine green to verify the viability of the subcutaneous flap for vulvar cancer.

Introduction: Vulvar cancer often requires radical vulvectomy with subsequent vulvar flap. Approximately in 20-60% of cases, there are post-operative complications ranging from infection to flap necrosis that often require reoperation. Several methods have been described to verify the vitality of the flap, but these are often expensive and require specific machinery that is not generally present in a gynecological clinic.

Recombinant factor IX Fc fusion protein in children with haemophilia B (Kids B-LONG): results from a multicentre, non-randomised phase 3 study.

Background: Kids B-LONG was a multicentre, open-label, phase 3 study assessing the safety, efficacy, and pharmacokinetics of recombinant factor IX Fc fusion protein (rFIXFc) in previously treated paediatric patients younger than 12 years with severe haemophilia B.

Methods: The study enrolled 30 previously treated boys younger than 12 years with haemophilia B (≤2 IU/dL [≤2%] endogenous coagulation factor IX [FIX] activity). All patients were initially given rFIXFc prophylaxis (50-60 IU/kg) once per week with adjustments to dose (≤100 IU/kg per infusion) or dosing frequency (up to two times per week) as needed.

Remifentanil vs. meperidine for patient-controlled analgesia during colonoscopy: a randomized double-blind trial.

Objectives: The aim was to compare patients' and endoscopists' satisfaction in terms of efficacy and safety of remifentanil patient-controlled analgesia (PCA) during colonoscopy with that of a combination of midazolam and meperidine.

Methods: Sixty patients undergoing colonoscopy were randomly assigned to two groups. All of the patients received midazolam 0.