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Familial Mediterranean fever (FMF) was previously believed to be an autosomal recessive disease. We present a patient with only one pathogenic variation of the MEFV gene due to the c.2177T>C mutation. The patient had clinical features of recurrent fevers and abdominal pain, serositis, and a history of multiple abdominal surgeries for pain. He was eventually diagnosed with FMF. This case report demonstrates an example of the rare autosomal-dominant phenotype of FMF.
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Background Bacterial translocation plays a pivotal role in the natural course of cirrhosis and its complications. Serum-derived bovine immunoglobulin (SBI) is an oral medical food that has been shown to both reduce inflammation in the intestines and neutralize bacteria. It represents a unique intervention that has not been studied in this population. Methodology We conducted a prospective open-label trial with an eight-week treatment phase of SBI. Individuals were assessed using lactulose breath testing, serum markers for enterocyte damage and bacterial translocation, and the Chronic Liver Disease Questionnaire (CLDQ) prior to and after completion of the treatment phase. Results We evaluated nine patients with a diagnosis of decompensated cirrhosis with ascites. Subjects had a mean Model for End-Stage Liver Disease (MELD) score of 11.6 ± 3.0 and were not taking lactulose or antibiotics. All subjects tolerated SBI well with no significant adverse events or changes to any of the six domains of the CLDQ. Laboratory tests including liver tests and MELD score remained stable over the course of treatment. There were no significant changes in the rates of small intestinal bacterial overgrowth (55.6% vs 55.6%, p = 1.00) or serum levels of lipopolysaccharide-binding protein, intestinal fatty acid-binding protein, or soluble CD14 (p-values 0.883, 0.765, and 0.748, respectively) when comparing values prior to and immediately after treatment. Conclusions No adverse events or significant changes to the quality of life were detected while on treatment. There were no statistically significant differences in our outcomes when comparing individuals before and after treatment in this small prospective proof-of-concept pilot study. Further prospective randomized studies could be beneficial.
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Roux-en-Y gastric bypass is a procedure commonly used for weight loss associated with improved outcomes and decreased complications when compared to some counterparts. The procedure involves restriction of the stomach that is achieved by creation of a gastric pouch and bypass of the duodenum and a portion of the jejunum to aid in restrictive and malabsorptive weight loss. While many complications, both early and late, have been described following the procedure, recurrent perihepatic abscess has not been described in the literature. We present a case of a 66-year-old woman with recurrent extrahepatic abscesses following revision of a Roux-en-Y gastric bypass.
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BACKGROUND: Immunosuppressed women with inflammatory bowel disease (IBD) are at elevated risk of cervical cancer yet have lower screening rates. The objective of this study was to assess the familiarity with cervical cancer screening recommendations, and the perceived responsibility for implementing screening among three physician groups involved in the clinical care of women with IBD: primary care physicians (PCP), gastroenterologists (GI) and gynecologists (GYN). METHODS: We anonymously surveyed a sample of 117 PCP, 52 GYN and 35 GI physicians affiliated with Saint Louis University, Saint Louis, MO, USA, from April 2018 to January 2019. The physicians completed a questionnaire adressing essential aspects of cervical cancer screening such as screening age, screening frequency, human papillomavirus (HPV) vaccination, comfort level in performing Papanicolaou (Pap) smears, perception of physician responsibility in terms of which physicians should perform Pap smears. RESULTS: A total of 2.6% of PCPs, 37% of GIs and 29% of GYNs reported familiarity with cervical cancer screening recommendations. In addition, PCP and GI had no definite opinions regarding which physicians should be in charge of cervical cancer screening and performing Pap smears. However, 94% of GYNs felt that they should be in charge of cervical cancer screening and performing Pap smears. CONCLUSIONS: An apparent lack of familiarity exists among all three physician groups regarding cervical cancer screening recommendations in immunosuppressed patients with IBD. Similarly, there is no consensus regarding which specialty should be responsible for cervical cancer screening in this patient population.
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Cholestatic hepatitis has not been reported as a paraneoplastic syndrome of endometrial adenocarcinoma to our knowledge. We present a patient who, shortly after endometrial adenocarcinoma diagnosis, presented with elevated liver chemistries in the setting of an acute, paraneoplastic sensorimotor polyneuropathy. Infectious, autoimmune, pharmacologic, malignant, metabolic, and structural causes of cholestatic hepatitis were screened for and ruled out. Our patient was diagnosed with simultaneous cholestatic hepatitis and acute sensorimotor polyneuropathy as possible paraneoplastic syndromes of endometrial adenocarcinoma. Clinicians should include paraneoplastic processes of cancer in the differential diagnosis for liver injury, especially when workup for alternative causes is unrevealing.
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OBJECTIVES: The Functional Dyspepsia Treatment Trial reported that amitriptyline (AMI) was associated with adequate relief of functional dyspepsia (FD) symptoms, but the pharmacogenetics of antidepressant response in FD are not known. GNß3 825C>T CC genotype has been previously linked to FD and TT genotype to antidepressant response in depression. The ss genotype of the 5-HTT LPR variant of the serotonin transporter gene (SLC6A4) has been linked to selective serotonin reuptake inhibitor (SSRI) response. We aimed to examine whether GNß3 825C>T and 5-HTT LPR polymorphisms result in differential treatment effects in FD patients receiving antidepressant therapy. METHODS: Participants were randomized to receive placebo, 50 mg AMI, or 10 mg escitalopram (ESC). The primary end point was adequate relief for ≥5 weeks of the last 10 weeks. Genotyping of GNß3 825C>T and 5-HTT LPR was performed utilizing PCR-based methods. RESULTS: GNß3 825C>T and 5-HTT LPR genotype data were available for 256 (88%) and 246 (84%) patients, respectively. Both polymorphisms were in Hardy-Weinberg equilibrium. In tests for differential treatment, neither 5-HTT LPR nor GNß3 825C>T genotype influenced response to therapy (P=0.89 and P=0.54, respectively). Although there was a tendency for a more favorable response to ESC in the SS/LS genotype compared to the LL genotype groups (40% vs. 31% reporting adequate relief of FD symptoms) among those in the ESC treatment arm, this was not significant (P=0.43). CONCLUSIONS: GNß3 825C>T and 5-HTT LPR genetic variants do not alter treatment response to tricyclic and SSRI antidepressants in FD.
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Amitriptilina/uso terapêutico , Citalopram/uso terapêutico , Dispepsia/tratamento farmacológico , Dispepsia/genética , Proteínas Heterotriméricas de Ligação ao GTP/genética , Proteínas da Membrana Plasmática de Transporte de Serotonina/genética , Adulto , Antidepressivos de Segunda Geração/uso terapêutico , Antidepressivos Tricíclicos/uso terapêutico , Biomarcadores , Método Duplo-Cego , Feminino , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo ÚnicoRESUMO
Primary mucinous adenocarcinoma of the appendix is a rare gastrointestinal malignancy. Fistulous tract formation is a complication that is cited in literature. An 85-year-old man with multiple comorbidities presented with several weeks of persistent non-bloody diarrhea. Laboratory work-up was non-diagnostic. Abdominal imaging with barium contrast showed an enterocolonic fistulous tract extending from the duodenum to the cecum involving an enlarged appendiceal mass. Subsequent biopsy confirmed mucinous appendiceal neoplasm with peritoneal spread to the liver and mesentery. This is the first report describing an enterocolonic fistula formation resulting from this malignancy.
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BACKGROUND & AIMS: Antidepressants are frequently prescribed to treat functional dyspepsia (FD), a common disorder characterized by upper abdominal symptoms, including discomfort or postprandial fullness. However, there is little evidence of the efficacy of these drugs in patients with FD. We performed a randomized, double-blind, placebo-controlled trial to evaluate the effects of antidepressant therapy on symptoms, gastric emptying (GE), and meal-induced satiety in patients with FD. METHODS: We performed a study at 8 North American sites of patients who met the Rome II criteria for FD and did not have depression or use antidepressants. Patients (n = 292; 44 ± 15 years old, 75% were female, 70% with dysmotility-like FD, and 30% with ulcer-like FD) were randomly assigned to groups given placebo, 50 mg amitriptyline, or 10 mg escitalopram for 10 weeks. The primary end point was adequate relief of FD symptoms for ≥5 weeks of the last 10 weeks (of 12). Secondary end points included GE time, maximum tolerated volume in Nutrient Drink Test, and FD-related quality of life. RESULTS: An adequate relief response was reported by 39 subjects given placebo (40%), 51 given amitriptyline (53%), and 37 given escitalopram (38%) (P = .05, after treatment, adjusted for baseline balancing factors including all subjects). Subjects with ulcer-like FD given amitriptyline were >3-fold more likely to report adequate relief than those given placebo (odds ratio = 3.1; 95% confidence interval: 1.1-9.0). Neither amitriptyline nor escitalopram appeared to affect GE or meal-induced satiety after the 10-week period in any group. Subjects with delayed GE were less likely to report adequate relief than subjects with normal GE (odds ratio = 0.4; 95% confidence interval: 0.2-0.8). Both antidepressants improved overall quality of life. CONCLUSIONS: Amitriptyline, but not escitalopram, appears to benefit some patients with FD, particularly those with ulcer-like (painful) FD. Patients with delayed GE do not respond to these drugs. ClinicalTrials.gov ID: NCT00248651.
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Amitriptilina/uso terapêutico , Antidepressivos Tricíclicos/uso terapêutico , Citalopram/uso terapêutico , Dispepsia/tratamento farmacológico , Qualidade de Vida , Inibidores Seletivos de Recaptação de Serotonina/uso terapêutico , Adulto , Amitriptilina/administração & dosagem , Citalopram/administração & dosagem , Método Duplo-Cego , Ingestão de Líquidos/efeitos dos fármacos , Dispepsia/fisiopatologia , Dispepsia/psicologia , Feminino , Esvaziamento Gástrico/efeitos dos fármacos , Humanos , Masculino , Pessoa de Meia-Idade , Saciação/efeitos dos fármacos , Fatores de Tempo , Resultado do TratamentoRESUMO
Gastrointestinal causes of abdominal pain are numerous. These causes are reviewed in brief here, divided into 2 categories: acute abdominal pain and chronic abdominal pain. They are further subcategorized by location of pain as it pertains to the abdomen.
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Dor Abdominal/etiologia , Doenças do Sistema Digestório/complicações , Doenças do Sistema Digestório/diagnóstico , Doença Aguda , Colangite/complicações , Colangite/diagnóstico , Colecistite/complicações , Colecistite/diagnóstico , Doença Crônica , Diagnóstico Diferencial , Doença Diverticular do Colo/complicações , Doença Diverticular do Colo/diagnóstico , Hepatite/complicações , Hepatite/diagnóstico , Humanos , Testes de Função Hepática , Úlcera Péptica Perfurada/complicações , Úlcera Péptica Perfurada/diagnóstico , Exame FísicoAssuntos
Neoplasias Esofágicas/patologia , Junção Esofagogástrica , Sarcoma Histiocítico/patologia , Biópsia por Agulha , Progressão da Doença , Neoplasias Esofágicas/diagnóstico , Esofagoscopia/métodos , Evolução Fatal , Sarcoma Histiocítico/diagnóstico , Humanos , Imuno-Histoquímica , Masculino , Pessoa de Meia-Idade , Invasividade Neoplásica/patologia , Estadiamento de Neoplasias , Doenças Raras , Tomografia Computadorizada por Raios X/métodosRESUMO
BACKGROUND: Functional dyspepsia (FD) is a common problem affecting up to 10-25% of individuals. FD accounts for significant health care costs and affects quality of life but has no definitive treatment. OBJECTIVES: The Functional Dyspepsia Treatment Trial (FDTT) aims to test whether treatment with an antidepressant (amitriptyline or escitalopram) leads to improvement of symptoms in patients with moderate to severe FD. DESIGN: The FDTT is an international multicenter, parallel group, randomized, double-blind, placebo-controlled trial to evaluate whether 12 weeks of treatment with escitalopram or amitriptyline improves FD symptoms compared to treatment with placebo. Secondly, it is hypothesized that acceleration of solid gastric emptying, reduction of postprandial satiation, and enhanced gastric volume change with a meal will be significant positive predictors of short- and long-term outcomes for those on antidepressants vs. placebo. The third aim is to examine whether polymorphisms of GNß3 and serotonin reuptake transporter influence treatment outcomes in FD patients receiving a tricyclic antidepressant, selective serotonin reuptake inhibitor therapy, or placebo. METHODS: The FDTT enrollment began in 2006 and is scheduled to randomize 400 patients by the end of 2012 to receive an antidepressant or placebo for 12 weeks, with a 6-month post-treatment follow-up. The study incorporates multiple validated questionnaires, physiological testing, and specific genetic evaluations. The protocol was approved by participating centers' Institutional Review Boards and an independent Data Safety Monitoring Board was established for monitoring to ensure patient safety and a single interim review of the data in December 2010 (ClinicalTrials.gov number NCT00248651).
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Amitriptilina/uso terapêutico , Antidepressivos de Segunda Geração/uso terapêutico , Antidepressivos Tricíclicos/uso terapêutico , Citalopram/uso terapêutico , Dispepsia/tratamento farmacológico , Projetos de Pesquisa , Intervalos de Confiança , Método Duplo-Cego , Dispepsia/patologia , Dispepsia/psicologia , Indicadores Básicos de Saúde , Humanos , Razão de Chances , Farmacogenética , Placebos , Psicometria , Fatores de Risco , Autorrelato , Inquéritos e QuestionáriosRESUMO
Barrett's esophagus (BE) results from prolonged uncontrolled gastroesophageal reflux (GERD). Patients at risk for BE should be screened with upper endoscopy. Dysplasia is identified pathologically on endoscopic biopsy. The finding of low grade dysplasia indicates the need for more surveillance. High grade dysplasia warrants intervention with ablative techniques or surgery due to the extremely high rate of malignant transformation to esophageal adenocarcinoma. All patients should receive measures to control GERD (life-style modifications and acid suppression).
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Esôfago de Barrett/diagnóstico , Esôfago de Barrett/terapia , Idoso , Esôfago de Barrett/complicações , Neoplasias Esofágicas/etiologia , Neoplasias Esofágicas/prevenção & controle , Refluxo Gastroesofágico/complicações , Refluxo Gastroesofágico/cirurgia , Humanos , Masculino , Fatores de RiscoRESUMO
Colorectal cancer (CRC) is the second leading cause of cancer death in the United States. In 2008, screening recommendations for CRC were updated. Successful reduction in CRC prevalence and deaths depends on a thorough understanding and correct implementation of these guidelines. This paper reviews the most recent CRC screening guidelines, in order to promote increased screening and effective adherence to these guidelines.
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Neoplasias Colorretais/diagnóstico , Colonografia Tomográfica Computadorizada , Colonoscopia , Humanos , Sangue Oculto , SigmoidoscopiaAssuntos
Anti-Inflamatórios/uso terapêutico , Anticorpos Monoclonais/uso terapêutico , Colectomia/estatística & dados numéricos , Colite Ulcerativa/tratamento farmacológico , Colite Ulcerativa/cirurgia , Fármacos Gastrointestinais/uso terapêutico , Anti-Inflamatórios/administração & dosagem , Anti-Inflamatórios/efeitos adversos , Anticorpos Monoclonais/administração & dosagem , Anticorpos Monoclonais/efeitos adversos , Esquema de Medicação , Fármacos Gastrointestinais/administração & dosagem , Fármacos Gastrointestinais/efeitos adversos , Hospitalização , Humanos , Infliximab , Injeções Intravenosas , Seleção de Pacientes , Medição de Risco , Índice de Gravidade de Doença , Fatores de Tempo , Resultado do TratamentoRESUMO
A case of diffuse esophageal leiomyomatosis is presented, with emphasis on the imaging findings across multiple contemporary diagnostic modalities. This entity represents a rare presentation of uncommon benign smooth muscle tumors of the esophagus. The characteristic clinical, histologic, and multimodality imaging findings may distinguish this benign tumor from its malignant counterpart leiomyosarcoma and from achalasia.
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Diagnóstico por Imagem , Neoplasias Esofágicas/diagnóstico , Leiomiomatose/diagnóstico , Adulto , Diagnóstico Diferencial , Neoplasias Esofágicas/patologia , Feminino , Humanos , Leiomiomatose/patologiaRESUMO
An abnormality in transit is commonly considered to account for unexplained gastrointestinal (GI) symptoms. Since the symptoms of delayed transit overlap with those of accelerated transit, direct measurement of GI transit is needed to establish an accurate diagnosis. Similarly, since symptoms originating from one part of the gut may overlap with symptoms from another, localizing transit abnormality to one organ vs. another using direct measurement is an important part of diagnostic evaluations. Consequently, noninvasive tests of GI transit should be done early in the evaluation to guide therapy. We now have tools to measure transit accurately; results of transit tests often depend on the conditions selected for the test, so test results will match clinical expectations most closely when test conditions are selected to reproduce the circumstances for symptom production. This review describes the most commonly used methods for the measurement of GI transit including the gastric emptying test for some dyspeptic symptoms, small bowel transit test for dyspeptic symptoms and diarrhea, colonic transit test for constipation, and factors that influence the result of these studies. As we make progress in our understanding of the pathophysiology of transit disorders, the clinical usefulness of these diagnostic tests will be further enhanced.