Colangiopancreatografia endoscópica retrógrada (CPRE) intraoperatória como alternativa no tratamento de coledocolitíase Intraoperative endoscopic retrograde cholangiopancreatography (CPRE) as an alternative for choledocholithiasis treatment

RACIONAL: O tratamento da coledocolitíase continua controverso, podendo ser realizado por pancreatocolangiografia retrógrada endoscópica pré-operatória seguida de videolaparocolecistectomia ou por videolaparocolecistectomia com exploração de vias biliares. Há relato na literatura de taxa de insucesso da pancreatocolangiografia retrógrada endoscópica pré-operatória em torno de 6%. OBJETIVO: Apresentar caso de uma paciente que necessitou da realização de CPRE intra-operatória para resolução de coledocolitíase tratada sem êxito por CPRE. RELATO DO CASO: Paciente de 45 anos, admitida na emergência com quadro de dor abdominal em epigástrio e hipocôndrio direito. A ultra-sonografia da admissão evidenciou coledocolitíase, sendo ela encaminhada para pancreatocolangiografia retrógrada endoscópica pré-operatória onde não houve sucesso na cateterização da papila. Foi optado então pela realização de videolaparocolecistectomia com exploração de via biliar por pancreatocolangiografia retrógrada endoscópica pré-operatória intra-operatoria com a cateterização da papila direcionada por fio guia passado pelo ducto cístico. Foi realizada duodenoscopia com captura do fio guia que serviu para a passagem do papilótomo dando seqüência à pancreatocolangiografia retrógrada endoscópica pré-operatória e retirada dos cálculos. A paciente evoluiu satisfatoriamente tendo alta no 2º dia do pós-operatório. CONCLUSÃO: A abordagem da coledocolitíase por pancreatocolangiografia retrógrada endoscópica intra-operatória seguida de videolaparocolecistectomia, mostrou-se segura e eficaz.<br>BACKGROUND:Choledocholithiasis treatment is still a controversial topic, being done either with endoscopic retrograde cholangiopancreatography before laparoscopic cholecystectomy or by the use of laparoscopic cholecystectomy and exploration of common bile duct. According to literature, there is an unsuccessful rate of 6% when utilizing pre-operative endoscopic retrograde cholangiopancreatography. AIM: To report a case of a patient who underwent intraoperative CPRE as a solution to choledocholithiasis treated unsuccessfully by CPRE. CASE REPORT:- We present a case report of a 45-year-old patient, female, who was admitted to an emergency room with abdominal pain in the epigastrius and right hypochondrium. Ultrasonography showed choledocholithiasis, and the patient was indicated to a pre-operative endoscopic retrograde cholangiopancreatography, by which the catheterization of papilla was unsuccessful. The patient was then, submitted to a laparoscopic cholecystectomy and exploration of the common bile ducts by preoperative and intraoperative endoscopic retrograde cholangiopancreatography with the catheterization of papilla being guided by a guiding thread which was introduced through the cystic duct. A duodenoscopy with the capture of the guiding thread was performed, allowing the passage of papillotome, giving sequence to the preoperative endoscopic retrograde cholangiopancreatography, by which gallstones were removed. The patient had a satisfying recovery being discharged on the second post-operative day. CONCLUSION: In this case, the choledocholithiasis management by intraoperative endoscopic retrograde cholangiopancreatography with laparoscopic cholecystectomy was considered both safe and effective

Use of Disease-Modifying Therapies in Pediatric MS

Pediatric multiple sclerosis (PedMS) is a rare disease with a more severe prognosis compared to adult-onset MS. It remains a challenging condition to treat because of the highly inflammatory nature of the disease, the prominent cognitive issues, and the limited knowledge about the efficacy and safety of current available disease-modifying therapies. Over the past decade, there has been a dramatic increase in the number of drugs licensed for adult-onset MS and several of them, although not tested in PedMS, are currently being used off-label in this population. To date, interferon-beta and glatiramer acetate are the most commonly used first-line treatments in children, although the efficacy and safety of these drugs have only been studied in observational cohorts and in unblinded randomized controlled trials. For children with breakthrough disease, escalation to higher efficacious second-line therapies, such as natalizumab, fingolimod, dimethyl fumarate, mitoxantrone, cyclophosphamide, rituximab, and daclizumab may be considered. Large observational studies showed natalizumab is an effective treatment with safety and efficacy comparable to those in adult populations. The safety, efficacy, and tolerability of the other second-line treatments in PedMS have been reported only in small size retrospective case series. Large phase III studies are underway which will provide important information regarding the efficacy and safety of fingolimod, teriflunomide, and dimethyl fumarate in PedMS. Symptomatic treatments for fatigue, spasticity, depression, bladder and bowel dysfunction, and neuropathic pain should be considered in PedMS, especially when these symptoms impact the quality of life. Further work is needed to ensure that new trials best address treatment outcomes tailored to PedM

Combining Stem Cells and Exon Skipping Strategy to Treat Muscular Dystrophy

Background: Muscular dystrophies are characterized by primary wasting of skeletal muscle. Mutations in the dystrophin gene cause hereditary muscular diseases such as Becker muscular dystrophy (BMD) and Duchenne muscular dystrophy (DMD), the most severe form. Characterization of the dystrophin gene and evidence that different types of adult stem cells are capable of muscle regeneration has lead to the development of potential gene therapy and stem cell treatments for DMD. Objectives: The main goal is to combine gene modification strategies with cell-mediated therapies. This approach could permit autologous transplantation of cells, minimizing the risk of implant rejection. Results/conclusion: The combination of gene and stem cell approaches seems to be most promising, particularly intra-arterial injections of the patient's own stem cells transduced by antisense oligonucleotide technology. This approach should offer the chance to distribute the autologous corrected stem cells to the whole body musculature providing a clinical benefit for dystrophic patients

Combining Stem Cells and Exon Skipping Strategy to Treat Muscular Dystrophy

Muscular dystrophies are a group of diseases characterized by the primary wasting of skeletal muscle. Mutations in the dystrophin gene cause Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). The characterization of the dystrophin gene and the evidence that adult stem cells are capable of participating into regeneration of more than its resident organ has lead to the development of potential gene therapy and stem cells treatments for this disorder. The combination of gene therapy and stem cell therapy may represent a very promising strategy. In this chapter, we describe an example of such combined therapy. We first corrected mutation in DMD pateints' stem cells with antisense oligonucelotide mediated exon skipping. The corrected stem cells were then delivered to the mdx mouse model via intra-arterial injection. This approach has several advantages. Intravascular delivery distributes the stem cells to the whole body musculature. The use of the autologous transplantation minimizes the risk of immunological graft rejection