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Juvenile idiopathic arthritis (JIA) is a chronic clinical condition characterized by arthritic features in children under the age of 16, with at least 6 weeks of active symptoms. The etiology of JIA remains unknown, and it is associated with prolonged synovial inflammation and structural joint damage influenced by environmental and genetic factors. This review aims to enhance the understanding of JIA by comprehensively analyzing relevant literature. The focus lies on current diagnostic and therapeutic approaches and investigations into the pathoaetiologies using diverse research modalities, including in vivo animal models and large-scale genome-wide studies. We aim to elucidate the multifactorial nature of JIA with a strong focus towards genetic predilection, while proposing potential strategies to improve therapeutic outcomes and enhance diagnostic risk stratification in light of recent advancements. This review underscores the need for further research due to the idiopathic nature of JIA, its heterogeneous phenotype, and the challenges associated with biomarkers and diagnostic criteria. Ultimately, this contribution seeks to advance the knowledge and promote effective management strategies in JIA.
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Artrite Juvenil , Criança , Animais , Humanos , Lactente , Artrite Juvenil/diagnóstico , Artrite Juvenil/terapia , Fenótipo , BiomarcadoresRESUMO
INTRODUCTION: Small bowel obstruction (SBO) is a common surgical emergency. Our report describes a case of a 61-year-old male who was found to have a PROLENE suture left in situ from a previous open appendectomy 22 years ago, over which a fibrous adhesive band had formed, resulting in a terminal ileal volvulus and subsequent SBO. CASE: A 61-year-old male presented with a 3-day history of severe lower abdominal cramps, nausea and constipation. A previous open appendectomy, performed 22 years ago, was the only significant detail in his medical history. A CT can with oral contrast was performed which showed dilatation of the terminal ileum and a complete absence of opacification of the cecum. Laparoscopy was then performed and a large adhesive band which formed over a suture from his previous open appendectomy was observed. On dissection of the adhesion, the bowel decompressed and returned to normal. Patient was discharged with no complications. DISCUSSION: This is quite a unique case due to the structure of the adhesive band that was formed and the resulting terminal ileal volvulus which is an uncommon occurrence. We could not find any similar reports in our search of the literature and believe our report is novel in this regard. CONCLUSION: We explored a novel etiology of adhesion formation over a foreign body left in situ and this should be considered by surgeons, especially when the clinical picture is uncommon such as a terminal ileal volvulus in this case.
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Pancreatic neuroendocrine tumors (PanNETs) are a rare subtype of pancreatic cancer and can be divided into functional (30-40%) and nonfunctional subtypes. The different subtypes of functional PanNETs (F-PanNETs) have a variety of classical presentations that raise suspicion for an underlying PanNET. It is estimated that 90% of PanNETs are sporadic, and the PI3K-Akt-mTOR and ATRX/DAXX signaling pathways have been recognized as key genetic pathways implicated in the pathogenesis. The other 10% of PanNETs may occur in the context of familial cancer syndromes such as MEN1. Chromogranin A is the most useful biomarker currently; however, several studies have shown limitations with its use, especially its prognostic value. Synaptophysin is a novel biomarker which has shown promising preliminary results however its use clinically has yet to be established. Blood tests assessing hormone levels, cross-sectional imaging, and endoscopic ultrasound remain at the core of establishing a diagnosis of F-PanNET. The treatment options for F-PanNETs include surgical methods such as enucleation, systemic therapies like chemotherapy and novel targeted therapies such as everolimus. The prognosis for F-PanNETs is more favorable than for nonfunctional PanNETs, however metastatic disease is associated with poor survival outcomes. Researchers should also focus their efforts on identifying novel pathways implicated in the pathogenesis of F-PanNETs in order to develop new targeted therapies that may reduce the need for surgical intervention and on the establishment of novel biomarkers that may reduce the need for invasive testing and allow for earlier detection of F-PanNETs.
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Adenoma de Células das Ilhotas Pancreáticas , Tumores Neuroendócrinos , Neoplasias Pancreáticas , Humanos , Tumores Neuroendócrinos/diagnóstico , Tumores Neuroendócrinos/terapia , Tumores Neuroendócrinos/metabolismo , Fosfatidilinositol 3-Quinases , Neoplasias Pancreáticas/diagnóstico , Neoplasias Pancreáticas/genética , Neoplasias Pancreáticas/terapia , Prognóstico , BiomarcadoresRESUMO
INTRODUCTION AND IMPORTANCE: Gastro-oesophageal reflux disease (GORD) is a common chronic condition affecting up to 20 %. Proton pump inhibitor (PPI) is considered 1st line therapy however 10-40 % of patients do not respond adequately subsequently requiring further investigations. One of these investigations includes oesophageal pH testing via a wireless capsule placed into the oesophagus, which may remain there for up to 96 h before being self-displaced. Our report describes a rare case of oesophageal pH capsule retention and proposes a pragmatic approach to its management including endoscopic removal. CASE PRESENTATION: A 33 year-old male attended our out-patient clinic with ongoing reflux symptoms and intermittent dysphagia. His response to first line therapy including lifestyle modifications and with PPIs was unsatisfactory thus a plan for an oesophageal Ph capsule study was agreed and performed. On day 4 post-procedure he reported severe dysphagia to solid foods. A Chest X-ray was performed which confirmed the presence of the capsule 7 days post-procedure. On day 12 post-procedure, gastroscopy and retrieval of the capsule was performed successfully. CLINICAL DISCUSSION: We recommend gastroenterologists use submucosal elevation in combination with manual traction in order to detach the capsule from the underlying mucosa, followed by retrieval using forceps to grab the thread-end of the capsule. CONCLUSION: We hope our report raises awareness for this rare complication as well as providing education to practicing gastroenterologists on a formal manoeuvre for successful endoscopic management of a retained oesophageal pH capsule.
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Lumbar disk herniation (LDH) is a common condition affecting millions worldwide. The management of LDH has evolved over the years, with the development of newer surgical techniques that aim to provide better outcomes with minimal invasiveness. One promising emerging technique is biportal endoscopic spinal surgery (BESS), which utilizes specialized endoscopic equipment to treat LDH through two small incisions. This review aims to assess the effectiveness of BESS as a management option for LDH by analyzing the available literature on surgical outcomes and potential complications associated with the technique. Our review shows that BESS is associated with favorable postoperative results as judged by clinical scoring systems, such as visual analog scale, Oswestry disability index, and MacNab criteria. BESS has several advantages over traditional open surgery, including minimized blood loss, a shorter duration of hospitalization, and an expedited healing process. However, the technique has limitations, such as a steep learning curve and practical challenges for surgeons. Our review offers recommendations for the optimal use of BESS in clinical practice, and provides a foundation for future research and development in this field, aiming to improve patient outcomes and quality of life.
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Intussusception is a common cause of acute and subacute small bowel obstruction in children, young, and older patients; however, despite increasing awareness of the condition and the number of patients diagnosed with it across all ages, its clinical and diagnostic approach remains challenging. A 17-year-old girl attended our gastroenterology outpatient department complaining of a 6-month history of recurrent right iliac fossa pain associated with nausea and vomiting at times with no past medical history of note. Initial blood tests revealed a slightly raised CRP (9.1 mg/L) and a significantly elevated fecal calprotectin (>1000 µg/g). Computed axial tomography scan of the abdomen and pelvis revealed ileocecal intussusception with no evidence of small or large bowel obstruction. On subsequent colonoscopy a 5-cm mass protruding through the ileocecal valve was identified and multiple biopsies were taken for histological analysis, which confirmed a diagnosis of Burkitt's lymphoma. The lesion was surgically resected and plans for adjuvant chemotherapy were discussed. The learning lessons to take from this case are to widen the list of differential diagnoses of unexplained recurrent abdominal pain to include intussusception and to actively rule it out with an appropriate diagnostic approach that addresses its potential malignant etiology across all ages.
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Craniomaxillofacial trauma (CMFT) is a type of injury that affects the face, neck, and scalp, and includes facial bone fractures, dentoalveolar trauma, and soft tissue injuries. Work, traffic accidents, sports, and daily activities commonly cause these injuries. However, they are widespread in war-torn countries where armed conflict leads to a high incidence of CMFT. The lack of resources, health care infrastructure, and surgical personnel in these areas result in subpar treatment and poor patient outcomes, contributing to the high mortality and morbidity rates among war victims. The importance of a multidisciplinary approach to CMFT management cannot be overstated, but current obstacles, such as a lack of access to proper medical care and rehabilitation services, impede the development of effective treatments. CMFT treatment is complex and prohibitively expensive for war-torn nations to afford, necessitating international intervention to provide life-saving surgical procedures for those suffering from CMFT in conflict zones. Despite efforts to improve CMFT treatments in war-torn countries, more must be done to improve treatment outcomes. Data collection and research must also be improved in order to develop effective evidence-based treatment methods.
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This paper aims to present a detailed overview of fibrolamellar carcinoma (FLC), a variant of hepatocellular carcinoma (HCC) that accounts for approximately 1-9% of all cases a. according to the SEER database. Despite ongoing research, the aetiology of FLC tumours remains unclear. Nevertheless, FLC is believed to have a better overall prognosis than other primary liver tumours, such as hepatocellular carcinoma (HCC) and intrahepatic cholangiocarcinoma. This study aims to present a comprehensive overview of fibrolamellar carcinoma (FLC), with a focus on its epidemiology, pathogenesis, diagnosis, treatment, and prognosis. FLC frequently incorporate features of stomach pain, weight loss, and malaise in their clinical signs and symptoms, which are generally nonspecific Ultimately, the most common physical finding is an abdominal mass or hepatomegaly. With this said, several unusual presentations have been documented such as Budd Chiari syndrome, severe anaemia, non-bacterial thrombotic endocarditis and many more. In regards to this tumour's genetic analysis, it is characterised by a 400 kb deletion on chromosome 19 leading to a functional DNAJB1-PRKACA chimeric transcript in addition to tetraploidy in 50% of cases. FLC is chromosomally stable as compared to typical HCC. mTOR pathway activation has also been found to play a critical role in 47% of these tumours and EFGR over-expression is also evident. Fibrolamellar carcinomas (FLCs) exhibit a distinctive gross appearance, characterized by a yellow to pale tan colour, with a consistency that can vary from soft to firm and hard. In addition, a central scar is observed in 60-70% of FLC cases. The central scar is typically white or grey in colour and has a fibrous appearance, which is often surrounded by nodular, tumour-like tissue. Its histologic appearance is characterized by large polygonal cells with abundant eosinophilic cytoplasm, large vesiculated nuclei, large nucleoli, and arranged in lamellar bands of collagen fibres. Lamellar bands of fibrosis, consisting of collagen type I, III and IV, have also been identified as a distinctive histologic feature that is observed under low power magnification. Ultrasound, CT and MRI along with image guided biopsy are the primary modalities in diagnosis. Current management options include systemic therapy which has thus far been unremarkable with platinum-based therapies as well combination therapy with interferon alpha-2b being the most successful options. Surgical resection remains the primary treatment modality and there have been no advances in targeted therapies. Although the prognosis for FLC is favourable as compared to other hepatic cancer subtypes such as intrahepatic cholangiocarcinoma, there is a high rate of recurrence ranging from 33% to 100% with a median recurrence-free survival of 20-48 months. As a result of this there is a low overall cure rate associated with this tumour type and much more research is required to gain an in-depth understanding of the molecular mechanisms occurring in order to provide more adequate treatment to patients who suffer from this condition.