RESUMO
The etiology of primary esophageal achalasia is largely unknown. There is increasing evidence that genetic alterations might play an important but underestimated role. Current knowledge of the genetic base of Hirschsprung's disease in contrast is far more detailed. The two enteric neuropathies have several clinical features in common. This association may also exist on a cellular and molecular level. The aim of this review is to enlighten those etiopathogenetic concepts of Hirschsprung's disease that seem to be useful in uncovering the pathological processes causing achalasia. Three aspects are looked at: (i) the genetic base of Hirschsprung's disease, particularly its major susceptibility gene rearranged during transfection and its potential reference to achalasia; (ii) the altered motor functions in both conditions with loss of inhibitory innervation and interstitial cell pathology; and (iii) the involvement of these motility disorders in genetic syndromes.
Assuntos
Acalasia Esofágica/etiologia , Doença de Hirschsprung/genética , Acalasia Esofágica/genética , Acalasia Esofágica/fisiopatologia , Motilidade Gastrointestinal , Doença de Hirschsprung/fisiopatologia , HumanosRESUMO
BACKGROUND AND STUDY AIMS: To summarize the published literature on assessment of appropriateness of colonoscopy for screening for colorectal cancer (CRC) in asymptomatic individuals without personal history of CRC or polyps, and report appropriateness criteria developed by an expert panel, the 2008 European Panel on the Appropriateness of Gastrointestinal Endoscopy, EPAGE II. METHODS: A systematic search of guidelines, systematic reviews, and primary studies regarding colonoscopy for screening for colorectal cancer was performed. The RAND/UCLA Appropriateness Method was applied to develop appropriateness criteria for colonoscopy in these circumstances. RESULTS: Available evidence for CRC screening comes from small case-controlled studies, with heterogeneous results, and from indirect evidence from randomized controlled trials (RCTs) on fecal occult blood test (FOBT) screening and studies on flexible sigmoidoscopy screening. Most guidelines recommend screening colonoscopy every 10 years starting at age 50 in average-risk individuals. In individuals with a higher risk of CRC due to family history, there is a consensus that it is appropriate to offer screening colonoscopy at < 50 years. EPAGE II considered screening colonoscopy appropriate above 50 years in average-risk individuals. Panelists deemed screening colonoscopy appropriate for younger patients, with shorter surveillance intervals, where family or personal risk of colorectal cancer is higher. A positive FOBT or the discovery of adenomas at sigmoidoscopy are considered appropriate indications. CONCLUSIONS: Despite the lack of evidence based on randomized controlled trials (RCTs), colonoscopy is recommended by most published guidelines and EPAGE II criteria available online (http://www.epage.ch), as a screening option for CRC in individuals at average risk of CRC, and undisputedly as the main screening tool for CRC in individuals at moderate and high risk of CRC.
Assuntos
Colonoscopia , Neoplasias Colorretais/patologia , Europa (Continente) , Guias como Assunto , Humanos , Ensaios Clínicos Controlados Aleatórios como AssuntoRESUMO
A 47-year-old patient with a history of Guillain-Barré syndrome three years prior to evaluation and a severe persisting sensory neuronopathy, complained of dysphagia especially for solid food. He also had severe, intermittent retrosternal pain. Radiological and manometric studies showed the typical features of achalasia. Treatment with botulinum toxin injection improved the dysphagia but not the retrosternal pain. An autoimmune response triggered by an infection is discussed as one possible cause of ganglion cell degeneration within the myenteric plexus in patients with achalasia. Such a hypothesis is supported by our observation showing the simultaneous occurrence of achalasia, sensory neuronopathy, and Guillain-Barré syndrome.
Assuntos
Transtornos de Deglutição/etiologia , Acalasia Esofágica/diagnóstico , Síndrome de Guillain-Barré/diagnóstico , Doenças Autoimunes/diagnóstico , Doenças Autoimunes/imunologia , Toxinas Botulínicas Tipo A/uso terapêutico , Dor no Peito/etiologia , Transtornos de Deglutição/tratamento farmacológico , Transtornos de Deglutição/imunologia , Acalasia Esofágica/tratamento farmacológico , Acalasia Esofágica/imunologia , Esofagoscopia , Síndrome de Guillain-Barré/tratamento farmacológico , Síndrome de Guillain-Barré/imunologia , Humanos , Masculino , Manometria , Pessoa de Meia-Idade , Plexo Mientérico/imunologia , Degeneração Neural/diagnóstico , Degeneração Neural/imunologia , Exame NeurológicoRESUMO
AIM: To determine DNA aneuploidy in mucosal biopsies of achalasia patients for subsequent rapid diagnosis. METHODS: Biopsies from the middle third of the esophagus were obtained in 15 patients with achalasia. Immunohistochemical staining was carried out with monoclonal antibodies MIB-1 for Ki67 and PAb 1801 for p53, in addition to the conventional histologic examination for dysplasia. Nuclei of fresh biopsy material were enzymatically and mechanically isolated, and the DNA content was determined with image cytometry after Feulgen staining. DNA grading of malignancy was assessed according to Boecking to determine the variability of DNA values noted around the normal diploid peak. Further indices measured included the aneuploid rate, and the 5c-, 7c- and 9c-exceeding rate. RESULTS: The histological examination did not demonstrate dysplasia; while MIB-1 (basal) showed a positive reaction in 8/15 achalasia specimens, p53 was negative in all specimens. Image cytometric DNA analysis detected aneuploidy in 4/15 (26.7%) specimens. Samples from 15 patients with squamous cell carcinoma as well as specimens obtained exclusively 2 cm proximal to the tumor served as reference tests. All carcinomas (15/15) as well as 9 of the peritumoral samples (9/15) were aneuploid. The comparison of biopsies from achalasia patients with peritumoral and carcinoma specimens revealed statistically significant differences regarding the aneuploid rate (diploid: P < 0.0001; tetraploid: P = 0.001), grading of malignancy according to Boecking (P < 0.0001) and the 5c- (P < 0.0001), 7c- (P < 0.0001), and 9c- (P = 0.0001) exceeding rate with progredient DNA alterations in the respective order. CONCLUSION: The finding that DNA aneuploidy was identified by image cytometry in esophageal specimens of patients with achalasia, which may be due to specific chromosomal alterations presenting as precancerous lesions in 27% of patients, leads us to conclude that image cytometry represents a valuable screening tool.
Assuntos
Aneuploidia , DNA/análise , DNA/genética , Acalasia Esofágica/genética , Acalasia Esofágica/patologia , Citometria por Imagem/métodos , Adulto , Idoso , Biópsia , Carcinoma de Células Escamosas/diagnóstico , Carcinoma de Células Escamosas/genética , Carcinoma de Células Escamosas/patologia , Acalasia Esofágica/diagnóstico , Neoplasias Esofágicas/diagnóstico , Neoplasias Esofágicas/genética , Neoplasias Esofágicas/patologia , Feminino , Testes Genéticos , Humanos , Imuno-Histoquímica , Antígeno Ki-67/análise , Masculino , Pessoa de Meia-Idade , Mucosa/química , Mucosa/patologia , Lesões Pré-Cancerosas/diagnóstico , Lesões Pré-Cancerosas/genética , Lesões Pré-Cancerosas/patologia , Proteína Supressora de Tumor p53/análiseRESUMO
We investigated the effect of mapped antrectomy with gastroduodenostomy on serum gastrin levels in fasting patients and resting lower esophageal sphincter (LES) pressure. Serum gastrin levels in fasting patients were lower in those who had an antrectomy without vagotomy (P less than .05) as compared to control subjects or patients with antrectomy and vagotomy. Resting LES pressure was similar in patients and controls and was not affected by the presence or absence of vagotomy. These findings suggest that (1) mapped antrectomy and gastroduodenostomy without vagotomy are followed by a decrease in serum gastrin and (2) resting LES pressure is not affected by mapped antrectomy and a decrease in serum gastrin level.
Assuntos
Junção Esofagogástrica/fisiopatologia , Gastrinas/sangue , Antro Pilórico/cirurgia , Adulto , Idoso , Duodeno/cirurgia , Jejum , Feminino , Seguimentos , Gastrinas/metabolismo , Gastrostomia/métodos , Humanos , Masculino , Pessoa de Meia-Idade , Úlcera Péptica/cirurgia , Pressão , Descanso , VagotomiaRESUMO
INTRODUCTION: In the majority of patients suffering from epiphrenic diverticula, functional disorders of the esophagus are evident. The significance of surgical therapy is unclear, especially in case of nonspecific esophageal motility disorders. Besides "triple therapy" with diverticulectomy, myotomy, and semifundoplication, myotomy alone is also applied. Based on our own long-term results, we intended to prove if a treatment concept modeled on the motility disorder is justified. PATIENTS AND METHODS: Between July 1989 and December 2002, 12 patients with symptomatic epiphrenic diverticula underwent surgery at our clinic. Myotomy was carried out with diverticulectomy (and semifundoplication) only if achalasia had been proven, and an antireflux procedure was done only in case of gastroesophageal reflux. Surgery was performed openly in ten patients, and laparoscopically in two. RESULTS: After a median follow-up of 46 months (range 9-169), all patients regarded the operative results as good to very good (11 follow-up investigations). CONCLUSION: To alleviate symptoms in patients with epiphrenic diverticula, myotomy is only rarely indicated. As with diverticulectomy, it is only necessary, if achalasia has been proven. Our long-term results do not suggest performing myotomy as a rule for underlying unspecific motility disorders of the esophagus.
Assuntos
Divertículo Esofágico/cirurgia , Transtornos da Motilidade Esofágica/cirurgia , Idoso , Divertículo Esofágico/etiologia , Transtornos da Motilidade Esofágica/etiologia , Esofagoplastia , Feminino , Fundoplicatura , Humanos , Laparoscopia , Masculino , Pessoa de Meia-Idade , Complicações Pós-Operatórias/etiologia , Recidiva , Estudos Retrospectivos , Grampeadores Cirúrgicos , Técnicas de Sutura , Toracotomia , Resultado do TratamentoRESUMO
BACKGROUND: It has been suggested that patients with Barrett's esophagus have a substantially increased risk of esophageal and possibly extra-esophageal cancers. We compared the incidence of cancer and the survival rates of patients with Barrett's esophagus with those observed in patients with achalasia, with Schatzki's ring, and in the general population. PATIENTS AND METHODS: From 1980 through 1994, 60 consecutive patients with newly diagnosed long-segment Barrett's esophagus without dysplasia were seen in a single gastroenterology consultation office and followed until the Fall of 1999. Cancer incidence and survival rates were compared with age- and sex-matched patients with symptomatic Schatzki's ring (n = 60) and achalasia (n = 60). Survival data were also compared with those of the German population. RESULTS: During a mean (+/-SD) observation period of 10 +/- 5 years, 2 patients with Barrett's esophagus (3%; 95% confidence interval [CI]: 0% to 11%) developed esophageal cancer, and 9 (15%; 95% CI: 7% to 27%) developed extra-esophageal cancers. These data differed only slightly from those of patients with Schatzki's ring (esophageal cancer: n = 1, 2%; 95% CI: 0% to 9%; extra-esophageal cancers: n = 9, 15%; 95% CI: 7%-27%) and achalasia (no esophageal cancers, extra-esophageal cancers: n = 3, 5%; 95% CI: 1% to 4%). Estimated 10-year survival was similar in patients with Barrett's esophagus (83%), patients with symptomatic Schatzki's ring (80%), patients with achalasia (87%), and in the general population (82%). CONCLUSIONS: The cancer risk in patients with Barrett's esophagus has been overestimated. If patients with nondysplastic epithelium are followed, the risk of esophageal cancer is about 1 per 300 patient-years.
Assuntos
Esôfago de Barrett/complicações , Neoplasias Esofágicas/epidemiologia , Neoplasias Esofágicas/etiologia , Expectativa de Vida , Adulto , Idoso , Estudos de Casos e Controles , Causas de Morte , Doenças do Esôfago/complicações , Feminino , Alemanha/epidemiologia , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Risco , Taxa de SobrevidaRESUMO
It has been previously shown that patients with achalasia may have motor abnormalities of the stomach, small bowel and biliary system. This study investigates whether a disturbance of extraintestinal autonomic function occurs. Autonomic function studies were performed in 15 patients with achalasia and 15 age- and sex-matched healthy controls. Pupillograms were obtained during darkness, light exposure and after pilocarpine administration. Cardiovascular function studies included determinations of heart rate variation during deep breathing and orthostasis. In addition, we determined blood pressure changes in response to sustained handgrip, cold exposure and orthostasis. Neurohormonal function was investigated by measuring serum pancreatic polypeptide (PP) levels prior to and following sham feeding. Pupillary function did not differ in patients as compared with controls. However, 9 of 15 patients (95% CI: 32-84%) and none of the controls showed at least one abnormal autonomic cardiovascular response. A significant difference between the two groups was observed in sympathetic function (P = 0.023). More patients than controls did not respond to sham feeding with a PP increase. It is concluded that some patients with achalasia exhibit an abnormality of the autonomic nervous system that extends beyond the gastrointestinal tract. These abnormalities mainly concern cardiovascular function but may also involve neurohormonal responses.
Assuntos
Sistema Nervoso Autônomo/fisiopatologia , Acalasia Esofágica/fisiopatologia , Adulto , Feminino , Hemodinâmica/fisiologia , Humanos , Masculino , Pessoa de Meia-Idade , Neuropeptídeos/metabolismo , Neuropeptídeos/fisiologia , Polipeptídeo Pancreático/sangue , Pupila/efeitos dos fármacos , Pupila/fisiologia , Reflexo/fisiologiaRESUMO
Patients with achalasia often present with atypical symptoms. If these occur in the context of "normal" morphological findings, the diagnosis may be delayed for several years. However, a careful interview and the use of modern methods that concentrate on pathophysiologic aspects always allow an early diagnosis and the initiation of therapy that affects most but rarely all symptoms. Finally, regardless of whether this therapy remains partially or totally effective, patients require some follow-up since serious and late complications may occur.
Assuntos
Dor no Peito/etiologia , Transtornos de Deglutição/etiologia , Acalasia Esofágica/complicações , Acalasia Esofágica/diagnóstico , Azia/etiologia , Assistência ao Convalescente/métodos , Progressão da Doença , Dispneia/etiologia , Acalasia Esofágica/classificação , Acalasia Esofágica/fisiopatologia , Acalasia Esofágica/terapia , Fístula Esofágica/etiologia , Esofagoscopia , Soluço/etiologia , Humanos , Anamnese , Índice de Gravidade de Doença , Redução de PesoRESUMO
The force/compression characteristics of 32 commercially available nickel titanium (NiTi) compression springs from seven distributors were investigated in vitro in order to support the orthodontist in deciding to select an appropriate spring for a given treatment. The geometrical properties of the coil springs, i.e., inner spring diameter, winding diameter and winding configuration, differed significantly, as well as the alloy composition and the thermo-mechanical treatment of the springs. All springs were mounted on a guiding rod made of an orthodontic steel wire (dimension: 0.016" x 0.022"), were compressed to a maximum extent and then relieved. Force/compression characteristics were measured at ambient temperatures of 27 degrees C, 37 degrees C and 47 degrees C. Three specimens were taken from each individual compression spring of a certain manufacturer and batch to check for constant material behaviour. A possible influence of sterilization on the mechanical properties of the compression springs was studied by autoclaving one spring of each manufacturer five times (6 minutes at 134 degrees C) and subsequently performing a force/deflection measurement. The NiTi compression springs were classified into three groups and covered a broad range of orthodontic forces between 0.5 N and 3.5 N. The width of the superelastic plateaus of the different NiTi coil springs reached from 0% to 66% of relative compression. An increase in the application temperature from 27 degrees C to 47 degrees C caused a rise in the height and a shortening of the width of the superelastic plateau. The resultant change in plateau force was as high as 0.4 N to 0.9 N, depending on the spring type investigated, the width of the plateaus was shortened by 4.0% to 15% of relative compression. All compression springs investigated displayed constant material behaviour within a certain batch. However, differences from one batch to another had a high level of significance. Forces on the plateau varied from one batch to the other by about +/-18%. An influence of sterilization on the force/compression behaviour could not be proved. Consequently, springs made of superelastic NiTi alloys cover a broad field of application with predefined and nearly constant force levels.
Assuntos
Níquel/química , Fios Ortodônticos , Resistência à Tração , Titânio/química , Análise de Variância , Ligas Dentárias/química , Desenho de Equipamento , Estresse Mecânico , Propriedades de Superfície , TemperaturaRESUMO
In the time period between 1985 and June 2001, four of 81 patients diagnosed with achalasia were surgically treated by means of transhiatal esophageal resection. Replacement with stomach and cervical anastomosis was performed in three patients aged 8, 19, and 27 years, respectively, after initial myotomy. In one case, the esophagus resection was the primary surgical measure and the colon was used as the replacement. The preoperative symptoms of the four patients showed improvement 51, 34, 15, and 8 months after the operation, respectively. Dysphagia and regurgitation no longer occurred. One patient died 4.5 years after esophageal resection due to ulcerous bleeding of the distal redundant colon interposition. In accordance with other studies investigating serious swallowing disorders, it could be shown that transhiatal resection with esophagus-replacement through stomach pull-up can lead to symptom-relief as well as an improvement in the quality of living.
Assuntos
Acalasia Esofágica/cirurgia , Esofagectomia/métodos , Adolescente , Adulto , Idoso , Anastomose Cirúrgica , Criança , Colo/transplante , Acalasia Esofágica/diagnóstico , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Complicações Pós-Operatórias/diagnóstico , Estômago/cirurgiaRESUMO
The basic principle behind the treatment of achalasia consists of alleviating swallowing disorders by reducing resistance in the lower esophageal sphincter without inducing gastroesophageal reflux. Only a few studies are available on long-term results after operative treatment. Fifty-one patients were studied with regard to long-term results after open transabdominal extramucosal myotomy of the distal esophagus along with partial anterior fundoplication (Dor procedure). Clinical data were collected by standardized interviews, and symptoms were assigned a score ranging from 0 to 3 according to severity and frequency. The pre- and postoperative symptoms were comparable in 50 patients. The median duration of follow-up was 88 months (range: 12-160 months). Operative time was a median of 80 min. Two esophageal mucosal tears were recognized intraoperatively and promptly repaired. Postoperative morbidity occurred in two patients (3.9%). Very good or good long-term results after surgical therapy were achieved in 49 patients (96.1%). Forty-seven patients (92.2%) have no or rare dysphagia. The frequency of regurgitation as well as chest pain was also significantly reduced after surgery. Forty-nine patients (96.1%) either maintained or gained weight. Preoperative duration of symptoms, follow-up, age, and gender had no influence on the results (p > 0.05). Two patients (3.9%) mentioned occasional heartburn. Five patients (9.8%) took or still take proton pump inhibitors postoperatively. Severe stage IV symptoms due to peptic stricture and dolichomegaesophagus required reoperation in one patient (2%). The results show that myotomy and the antireflux procedure (semifundoplication) lead to long-term relief of dysphagia without inducing reflux at a low operative risk. Since long-term results are as yet not available for minimally invasive surgery, it remains to be seen if this operative technique will become the primary surgical procedure for this disease.
Assuntos
Cárdia/cirurgia , Acalasia Esofágica/cirurgia , Fundoplicatura/métodos , Adolescente , Adulto , Idoso , Transtornos de Deglutição/etiologia , Transtornos de Deglutição/cirurgia , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Complicações Pós-Operatórias/etiologia , Complicações Pós-Operatórias/cirurgia , ReoperaçãoRESUMO
Of 15 patients operated on for achalasia in the Department of General and Abdominal Surgery at the University of Mainz between September 1985 and April 1990, 14 were followed-up. All the patients had received an extramucous myotomy combined with Dor's semifundoplication; in twelve, one or more preoperative balloon dilatations had been performed. The results are reported in this study. The average age of the patients was 55.3 years (18 to 76 years), and the average follow-up period 21 months (six to 53 months). No postoperative complications were seen in any of the case. All patients reported appreciable improvements in their symptoms, six being completely symptom-free. Occasional dysphagia was reported in six cases, one patient had occasional, another frequent, nocturnal heartburn, which however had already presented preoperatively. In all seven cases submitted to postoperative radiological examination, the diameter of the esophagogastric junction was increased, and the diameter of the middle-third of the esophagus decreased. No gastroesophageal reflux or signs of inflammation were seen in any of the cases. The low complication rate and the high success rate despite prior balloon dilatation or bougienage support the use of Heller's operation combined with Dor's semifundoplication for the surgical treatment of achalasia after failed balloon dilatation.
Assuntos
Acalasia Esofágica/cirurgia , Esofagoplastia/métodos , Adolescente , Adulto , Idoso , Dilatação , Acalasia Esofágica/diagnóstico por imagem , Esofagite Péptica/diagnóstico por imagem , Esofagite Péptica/cirurgia , Esofagoscopia , Feminino , Seguimentos , Humanos , Masculino , Manometria , Pessoa de Meia-Idade , Complicações Pós-Operatórias/diagnóstico por imagem , Radiografia , RecidivaRESUMO
The effects of olsalazine were studied mainly in patients with ulcerative colitis who were intolerant to sulphasalazine, and for relapse prevention. A crossover design with sulphasalazine, 3 g/day, and olsalazine, 1.5 g/day, was applied to compare the side-effects of each drug and to evaluate their therapeutic efficacy. A total of 41 patients with mild or moderately severe left-sided colitis or proctitis were assigned to a randomized treatment schedule. Olsalazine and sulphasalazine were similar in their therapeutic efficacy. Twelve patients complained of adverse effects while on sulphasalazine and 4 patients during olsalazine treatment (p less than 0.05). It is concluded that olsalazine is a safe and effective drug for the treatment of mild or moderately severe ulcerative colitis, and is comparable to sulphasalazine, though with reduced side-effects.