Leiomyomatosis masquerading as sigmoid achalasia: a rare occurrence.
Ontology highlight
ABSTRACT:
SUBMITTER: Nabi Z
PROVIDER: S-EPMC7947316 | biostudies-literature |
REPOSITORIES: biostudies-literature
Similar Datasets
Project description:Peroral endoscopic myotomy (POEM) has been recently considered as the first treatment option for achalasia. The standard POEM procedures are often successful in most patients, but sometimes technical challenges are encountered. We report a new technique that is divided between two tunneling sites in the esophagus for sigmoid-type achalasia. A 40-year-old male patient with dysphagia for 10 years was diagnosed with a sigmoid-shaped esophagus at our hospital. We devised a two-stage myotomy technique to treat sigmoidtype achalasia. The myotomy was first performed in the upper part of the greater flexion area and then in the lower part of the flexion. We termed this method "two-stage POEM", which was successfully performed without any complications. This new POEM method can also be used to improve symptoms in patients with achalasia who have a structural deformity that may result in a high change of treatment failure.
| S-EPMC7137558 | biostudies-literature
Project description:Rare adipose disorders (RADs) including multiple symmetric lipomatosis (MSL), lipedema and Dercum's disease (DD) may be misdiagnosed as obesity. Lifestyle changes, such as reduced caloric intake and increased physical activity are standard care for obesity. Although lifestyle changes and bariatric surgery work effectively for the obesity component of RADs, these treatments do not routinely reduce the abnormal subcutaneous adipose tissue (SAT) of RADs. RAD SAT likely results from the growth of a brown stem cell population with secondary lymphatic dysfunction in MSL, or by primary vascular and lymphatic dysfunction in lipedema and DD. People with RADs do not lose SAT from caloric limitation and increased energy expenditure alone. In order to improve recognition of RADs apart from obesity, the diagnostic criteria, histology and pathophysiology of RADs are presented and contrasted to familial partial lipodystrophies, acquired partial lipodystrophies and obesity with which they may be confused. Treatment recommendations focus on evidence-based data and include lymphatic decongestive therapy, medications and supplements that support loss of RAD SAT. Associated RAD conditions including depression, anxiety and pain will improve as healthcare providers learn to identify and adopt alternative treatment regimens for the abnormal SAT component of RADs. Effective dietary and exercise regimens are needed in RAD populations to improve quality of life and construct advanced treatment regimens for future generations.
| S-EPMC4010336 | biostudies-literature
Project description:Background: The efficacy and safety of peroral endoscopic myotomy (POEM) in the treatment of sigmoid-type achalasia is unknown. This meta-analysis aims to explore the clinical outcomes of POEM for sigmoid-type achalasia. Method: We searched all relevant studies published up to September 2020 in PubMed, Embase, and Cochrane library databases. Meta-analyses for clinical success, Eckardt score, angle of esophageal tortuosity, diameter of esophagus, lower esophageal sphincter (LES) pressure, integrated relaxation pressure (IRP), adverse events, and gastroesophageal reflux diseases were performed based on random or fixed-effects models as needed. Results: We found a total of eight studies that provided data on 248 patients. Overall, the pooled clinical success was achieved in 211 sigmoid-type achalasia patients [90.4%; 95% confidence interval (CI), 85.5%-93.8%]. The pre- and post-POEM Eckardt scores, angle of esophageal tortuosity, diameter of esophageal, LES pressure, and IRP were significantly improved (All p < 0.05). The pooled adverse events rate was 13.0% (95% CI, 3.6%-37.4%). The pooled objective confirmation of reflux rate was 41.5% (95% CI, 26.5%-58.3%), and symptomatic reflux rate was 12.5% (95% CI, 8.3%-18.4%). Conclusions: Our current evidence indicated that POEM is an effective and safe therapeutic modality for the treatment of sigmoid-type achalasia.
| S-EPMC8295649 | biostudies-literature
Project description:Colorectal cancer is a very common disease process, as is ureteral obstruction, but the two are typically mutually exclusive. The case report presented details a 35-year-old male with left sided flank pain and hydroureteronephrosis caused by metastatic spread of previously diagnosed and treated sigmoid adenocarcinoma. About two years previously, he had been diagnosed with Stage IV, T4a sigmoid colon cancer with liver metastasis and had resection of his primary tumor as well as metastatic sites and several rounds of chemotherapy. This case is an example of the different ways that cancer can grow, evading detection by spreading in atypical patterns.
| S-EPMC6669371 | biostudies-literature
Project description:Background/aimsSigmoid esophagus and/or megaesophagus are considered as an advanced stage in the natural history of achalasia cardia. The role of peroral endoscopic myotomy (POEM) in these subset of patients is emerging. We performed a systematic review and metanalysis to study the efficacy of POEM in advanced achalasia cardia with sigmoid and megaesophagus.MethodsA literature search in PubMed and Embase was done from inception till August 3, 2021 to look for studies reporting exclusively on the role of POEM in advanced achalasia cardia with sigmoid and/or megaesophagus. The random effect method with inverse variance approach was used for the computation of pooled prevalence. For 2 groups' analysis of continuous outcome standardized mean difference was used as the summary measure.ResultsEleven studies with 428 patients were included for analysis. The pooled technical and clinical success was 98.27% (95% CI, 96.19-99.22; I2 = 0%) and 89.38% (95% CI, 84.49-92.86; I2 = 26%) and on subgroup analysis into sigmoid and megaesophagus it was (98.06% [95% CI, 95.41-99.19; I2 = 0%], 98.47% [95% CI, 92.72-99.69; I2 = 0%] and 87.92% [95% CI, 80.68-92.70; I2 = 37%], 88.36% [95% CI, 62.62-97.17; I2 = 77%]) respectively. The clinical success at < 1 year and 1-3 year follow-up was 89.37% (95% CI, 82.82-93.61; I2 = 0%) and 88.66% (95% CI, 81.65-91.22; I2 = 46%) respectively. There was a significant reduction in the post-POEM scores with standardized mean difference for Eckardt score (4.81), for integrated relaxation pressure at 4 seconds (1.93), and for lower esophageal sphincter pressure (2.06).ConclusionsPOEM is an effective modality of treatment even in the subset of patients of advanced achalasia cardia with sigmoid and megaesophagus.
| S-EPMC8748859 | biostudies-literature
Project description:Hepatocellular carcinoma (HCC) is the most common primary liver cancer and can arise from any form of chronic liver disease or cirrhosis. With increasing rates of metabolic syndrome and obesity, it is not surprising that NASH is quickly becoming a leading cause of chronic liver disease and HCC in the western hemisphere (Wang and Malhi, 2018). Metastasis is usually found in advanced stages of the disease, owing to its poor prognosis. The lung, bone, and lymph nodes are the most frequent sites of metastasis (Balogh et al., 2016, and Becker et al., 2014). On the other hand, metastasis to the skin and cranium is relatively rare. Literature review reveals less than 10 reported cases in the last 10 years. Herein, we report an unusual case of a “forehead hematoma” leading to the formal diagnosis of metastatic HCC.
| S-EPMC7545472 | biostudies-literature
Project description:AimsKCNE1 encodes an auxiliary subunit of cardiac potassium channels. Loss-of-function variations in this gene have been associated with the LQT5 form of the long QT syndrome (LQTS), secondary to reduction of I(Ks) current. We present a case in which a D85N rare polymorphism in KCNE1 is associated with an LQT2 phenotype.Methods and resultsAn 11-year old competitive athlete presented with mild bradycardia and a QTc interval of 470 ms. An LQT2 phenotype, consisting of low-voltage bifid T waves, was evident in the right precordial electrocardiogram leads. During the tachycardia phase following adenosine, QTc increased to 620 ms. Genetic analysis revealed a rare heterozygous polymorphism in KCNE1 predicting the substitution of asparagine for aspartic acid at position 85 of minK (D85N). Patch clamp experiments showed that KCNE1-D85N, when co-expressed with KCNH2 in TSA201 cells, significantly reduced I(Kr). Homozygous co-expression of the mutant with KCNH2 reduced I(Kr) tail current by 85%, whereas heterozygous co-expression reduced the current by 52%, demonstrating for the first time a dominant-negative effect of D85N to reduce I(Kr). Co-expression of the mutant with KCNQ1, either homozygously or heterozygously, produced no change in I(Ks).ConclusionsOur results suggest that a rare polymorphism KCNE1-D85N underlies the development of an LQT2 phenotype in this young athlete by interacting with KCNH2 to cause a dominant-negative effect to reduce I(Kr). Our data provide further evidence in support of the promiscuity of potassium channel ? subunits in modulating the function of multiple potassium channels leading to a diversity of clinical phenotypes.
| S-EPMC3180238 | biostudies-literature
Project description:Gene mutations and epigenetic changes have been shown to play significant roles in the pathogenesis of myelodysplastic syndromes. Recently, mutations in DNMT3A were identified in 22.1% of patients with acute myeloid leukemia. In this study, we analyzed the frequency and clinical impact of DNMT3A mutations in a cohort of 193 patients with myelodysplastic syndromes. Mutations in DNMT3A were found in 2.6% of patients. The majority of mutations were heterozygous missense mutations affecting codon R882. Patients with DNMT3A mutations were found to have a higher rate of transformation to acute myeloid leukemia. When assessing the global methylation levels in patients with mutated versus unmutated DNMT3A and healthy controls no difference in global DNA methylation levels between the two groups was seen. Our data show that in patients with myelodysplastic syndromes, DNMT3A mutations occur at a low frequency and may be a risk factor for leukemia progression.
| S-EPMC3232272 | biostudies-literature
Project description:Background and Objectives: This study aimed to objectively determine microsatellite instability (MSI) status using a next-generation sequencing (NGS)-based MSI panel and to resolve the discrepancy regarding whether or not MSI is a rare phenomenon, irrespective of diverse genomic alterations in gastrointestinal stromal tumors (GISTs). Materials and Methods: Genomic DNA was subjected to MSI panel sequencing using an Ion AmpliSeq Microsatellite Instability Assay, as well as to cancer gene panel sequencing using an Oncomine Focus DNA Assay. Results: All of our GIST patients showed microsatellite-stable (MSS) status, which confirmed that MSI status did not affect the molecular pathogenesis of GIST. The KIT gene (79%, 38/48) was the most frequently mutated gene, followed by the PDGFRA (8%, 4/48), PIK3CA (8%, 4/48), and ERBB2 (4%, 2/48) mutations. KIT exon 11 mutant patients were more favorable in responding to imatinib than those with exon 9 mutant or wild-type GISTs, and compared to non-KIT exon 11 mutant GISTs (p = 0.041). The NGS-based MSI panel with MSICall confirmed a rare phenomenon of microsatellite instability in GISTs irrespective of diverse genomic alterations. Conclusion: Massively parallel sequencing can simultaneously provide the MSI status as well as the somatic mutation profile in a single test. This combined approach may help us to understand the molecular pathogenesis of GIST carcinogenesis and malignant progression.
| S-EPMC7931009 | biostudies-literature
Project description:Lipomas of the gastrointestinal tract are uncommon benign tumors of mature adipocytes and may occur in any portion along the gut. Depending on location they may have a variety of clinical presentations and even simulate malignant neoplasms. We report a case of a 58-year-old woman who presented with acute pelvic pain. An emergency sonogram detected a hyperechogenic mass in the left adnexal region, with no vascularization on Doppler. A computed tomography confirmed the hypothesis of a fat containing tumor with signals of torsion. The patient underwent laparoscopy which depicted a mass over the antimesenteric side of the sigmoid with signs of ischemia and twisted vascular pedicle. The lesion was resected, and the microscopy confirmed the diagnosis of lipoma. The multidisciplinary team in the emergency room must be aware of these possible complications in order to optimize patient care.
| S-EPMC6073086 | biostudies-other