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1.
Hered Cancer Clin Pract ; 22(1): 12, 2024 Jul 22.
Artigo em Inglês | MEDLINE | ID: mdl-39039610

RESUMO

BACKGROUND AND AIM: Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) is an autosomal dominant syndrome characterized by fundic gland polyps (FGP) as well as an increased risk of gastric cancer. The syndrome has been recognized as a clinical entity for less than a decade. A clinical suspicion may be complex and can vary from incidental findings of FGPs at gastroscopy to obstructive symptoms with dyspepsia and vomiting. The diagnosis is established by genetic detection of a pathogenic variant in the promotor 1B region of the APC gene. As of yet there are no established clinical criteria for the diagnosis. To increase knowledge of the condition and to discuss possible genetic testing and surveillance strategies, we performed a systematic review of all reported patients with GAPPS. METHODS: This review was organized according to PRISMA guidelines. The search, which was conducted on September 7th, 2023, was applied to MEDLINE and restricted to only humans and papers in the English language. Only the studies on patients/families with GAPPS verified by identification of a pathogenic variant in the APC promoter 1B were included. RESULTS: Twelve publications with a total of 113 patients were identified. In all instances the diagnosis was genetically verified with reports of four different variants within the APC promotor 1B region. Eighty-eight patients (90.1%) had gastric polyps, of these seven patients had low-grade dysplasia and five patients had both low- and high-grade dysplasia. Thirty-seven patients (45.7%) underwent gastrectomy. There were no reports of duodenal polyps (0%). Gastric cancer was found in 31 patients (30.1%) with a median age of 48 years (range 19-75). Twenty-six patients died (23.2%) of which 19 had developed gastric cancer (73.1%). One patient was diagnosed with metastatic colorectal cancer (2.2%) and died at 73 years of age. Nineteen patients had colorectal manifestations with < 20 polyps (41.3%). CONCLUSION: Patients with a pathogenic variant in the APC promoter 1B region have an increased risk of gastric polyposis and early-onset gastric cancer. However, there is considerable variation in clinical expression and penetrance, which makes decisions on surveillance and the timing of prophylactic gastrectomy challenging.

2.
Tech Coloproctol ; 27(6): 459-463, 2023 06.
Artigo em Inglês | MEDLINE | ID: mdl-36648602

RESUMO

PURPOSE: To investigate the effect of dorsal clitoral nerve stimulation (DCNS) on bothersome urgency to defecate with or without fecal incontinence and the patient-reported discomfort or adverse effect with the method. METHODS: For dorsal clitoral nerve stimulation, a battery powered, handheld stimulator was used, set to a pulse width of 200 µs and a frequency of 20 Hz. One electrode was placed at the preputium of the clitoris and acted as cathode while an anode electrode was placed on the belly. Prior to stimulation the patients were asked to complete a bowel habit diary throughout 14 consecutive days before and during stimulation. RESULTS: Fourteen out of the 16 patients included completed the study. A decrease in the number of episodes (per day) with strong urgency declined in eight patients but increased in four cases during the stimulation period. An increase in episodes with moderate or mild urgency was observed in 11 and 6 cases, respectively, and a decrease in defecation without the feeling of urgency or passive incontinence decreased in two thirds of the patients. Two patients discontinued the study prematurely, on due to worsening in symptoms and one due to pelvic pain. CONCLUSION: Although the results may be promising, much still must be learned about the method including mode and duration of stimulation, better electrodes and more patient friendly equipment together with the development of better questionnaires to assess the patient burden of urgency.


Assuntos
Terapia por Estimulação Elétrica , Incontinência Fecal , Estimulação Elétrica Nervosa Transcutânea , Feminino , Humanos , Projetos Piloto , Resultado do Tratamento , Estimulação Elétrica Nervosa Transcutânea/métodos , Terapia por Estimulação Elétrica/métodos , Estimulação Elétrica , Incontinência Fecal/terapia , Incontinência Fecal/diagnóstico
3.
Clin Radiol ; 77(10): e719-e722, 2022 10.
Artigo em Inglês | MEDLINE | ID: mdl-35715242

RESUMO

AIM: To compare the accuracy and interobserver variation of routine computed tomography (CT) on postoperative day 6-8 to detect anastomotic leakage (AL) verified by re-operation and/or endoscopy. A secondary objective was to identify the predictive values of different CT findings as an indicator for AL. MATERIAL AND METHODS: The material for this study originates from two previous prospective multicentre studies including 277 patients who were scheduled for routine abdominal CT postoperative day 6-8. Inclusion criteria for the present study were routine CT without contrast medium followed by CT with rectal contrast medium. Two independent senior radiologists blinded to the clinical outcome reviewed the CT examinations for specific findings according to a predefined scheme. RESULTS: A total of 52 patients fulfilled the inclusion criteria. AL occurred in 14 patients of which nine were clinical and five subclinical. The two radiologists diagnosed AL at unenhanced CT with sensitivities of 71.4% and 50%, respectively, and of 57.1% and 35.7% with rectal contrast medium. The corresponding specificities were 55.3% and 81.6%, and 94.7% and 92.1%. Peri-anastomotic free air and contrast medium leakage had the highest odds ratios for AL. CONCLUSION: The diagnostic sensitivity and specificity of routine postoperative CT to detect AL after low anterior resection for rectal cancer is low and with considerable interobserver variation.


Assuntos
Fístula Anastomótica , Neoplasias Retais , Anastomose Cirúrgica/métodos , Fístula Anastomótica/diagnóstico por imagem , Meios de Contraste , Humanos , Variações Dependentes do Observador , Neoplasias Retais/diagnóstico por imagem , Neoplasias Retais/cirurgia , Estudos Retrospectivos , Tomografia Computadorizada por Raios X/métodos
4.
Colorectal Dis ; 23(1): 145-152, 2021 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-32779825

RESUMO

AIM: The aim was to investigate the overall postoperative complication rate within 90 days following ileal pouch-anal anastomosis (IPAA), with or without a diverting stoma, together with complications 30 days after stoma closure and overall pouch failure rate. METHOD: This was a retrospective chart review including IPAA patients with or without a diverting loop-ileostomy for ulcerative colitis (1 January 1983 to 31 December 2015). Demographic data and postoperative complications were retrieved and recorded. RESULTS: A total of 434 patients were included. A diverting loop-ileostomy was performed in 348 patients (80%). Baseline data were similar in the two groups except for body mass index (BMI) and the ratio of women, which were significantly higher in the group without a protective ileostomy. Overall 90-day complication rate after IPAA [Clavien-Dindo (CD) > 2] was similar in the two groups. Clinical anastomotic leaks (CD > 2) were higher in patients without a diverting stoma (9.3% vs 1.7%) (P = 0.002). The odds ratio for leakage after adjustments (age, gender, immune-modulating medicine and BMI) was 5.0 for omitting a diverting stoma (P = 0.004). Complications (CD > 2) after loop-ileostomy closure were seen in 61 cases (14.1%). Omitting a diverting stoma at IPAA demonstrated a non-significant odds ratio of 1.04 (0.46, 2.38) (P = 0.924) for pouch failure after adjustments (age, gender, immune-modulating medicine, BMI, time from pouch formation and clinical leakage). CONCLUSION: The overall postoperative surgical and medical complication rate within 90 days after IPAA was similar in the group with and without diverting stoma. Postoperative complication rate after reversal was 14%. Omitting a diverting stoma at IPAA demonstrated an increased risk of leaks but no significant risk of long-term pouch failure.


Assuntos
Colite Ulcerativa , Bolsas Cólicas , Proctocolectomia Restauradora , Anastomose Cirúrgica/efeitos adversos , Colite Ulcerativa/cirurgia , Bolsas Cólicas/efeitos adversos , Feminino , Humanos , Ileostomia/efeitos adversos , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/etiologia , Proctocolectomia Restauradora/efeitos adversos , Estudos Retrospectivos
5.
Tech Coloproctol ; 25(8): 915-921, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-33765228

RESUMO

BACKGROUND: Antegrade colonic enema (ACE) via an appendicostomy is a recognised method of treatment for medically intractable fecal incontinence and/or constipation. In case of a missing appendix, ileal neoappendicostomy (INA) is considered a suitable alternative. The aim of this study was to review the postoperative complications, functional outcome, stoma-related complications and quality of life of patients treated with this method. METHODS: A systematic literature search was performed in Embase, MEDLINE, PubMed (NCBI) and Cochrane Library from inception to September 2020 using the search terms "antegrade enema" OR "continence enema". Studies on children and adults with fecal incontinence, constipation or a combination of both, who underwent ileal neoappendicostomy for ACE due to the failure of medical treatment and/or anal irrigation were included in the studies, which reported one or more of the following primary outcomes: postoperative complications, functional results, and stoma-related complications. RESULTS: A total of 780 studies were identified, 8 of which, comprising 6 studies in adults and 2 in children, were eligible for review. Overall, 139 patients were included. All studies were retrospective and the methods for reporting outcomes were highly heterogeneous. Improvements in incontinence and constipation were reported in all studies, together with an improved quality of life when reported (5 studies). Stomal stenosis and leakage rates were 0-29% and 14-60%, respectively. Postoperative complications were relatively common and included potentially life-threatening complications. CONCLUSIONS: Taking into consideration that studies of INA were few and of poorly quality; ACE via an INA had a positive impact on bowel function and quality of life. Stoma-related complications and postoperative complications remain a concern.


Assuntos
Incontinência Fecal , Adulto , Criança , Constipação Intestinal/etiologia , Constipação Intestinal/terapia , Enema/efeitos adversos , Incontinência Fecal/etiologia , Incontinência Fecal/terapia , Humanos , Qualidade de Vida , Estudos Retrospectivos , Resultado do Tratamento
6.
Colorectal Dis ; 22(6): 650-662, 2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-32067353

RESUMO

AIM: The goal of this European Society of ColoProctology project was to establish a multidisciplinary, international guideline for haemorrhoidal disease (HD) and to provide guidance on the most effective (surgical) treatment for patients with HD. METHODS: The development process consisted of six phases. In phase one we defined the scope of the guideline. The patient population included patients with all stages of haemorrhoids. The target group for the guideline was all practitioners treating patients with haemorrhoids and, in addition, healthcare workers and patients who desired information regarding the treatment management of HD. The guideline needed to address both the diagnosis of and the therapeutic modalities for HD. Phase two consisted of the compilation of the guideline development group (GDG). All clinical members needed to have affinity with the diagnosis and treatment of haemorrhoids. Further, attention was paid to the geographical distribution of the clinicians. Each GDG member identified at least one patient in their country who could read English to comment on the draft guideline. In phase three review questions were formulated, using a reversed process, starting with possible recommendations based on the GDG's knowledge. In phase four a literature search was performed in MEDLINE (Ovid), PubMed, Embase (Ovid) and the Cochrane Database of Systematic Reviews. The search was focused on existing systematic reviews addressing each review question, supplemented by other studies published after the time frame covered by the systematic reviews. In phase five data of the included papers were extracted by the surgical resident (RT) and checked by the methodologist (JK) and the GDG. If needed, meta-analysis of the systematic reviews was updated by the surgical resident and the methodologist using Review Manager. During phase six the GDG members decided what recommendations could be made based on the evidence found in the literature using GRADE. RESULTS: There were six sections: (i) symptoms, diagnosis and classification; (ii) basic treatment; (iii) outpatient procedures; (iv) surgical interventions; (v) special situations; (vi) other surgical techniques. Thirty-four recommendations were formulated. CONCLUSION: This international, multidisciplinary guideline provides an up to date and evidence based summary of the current knowledge of the management of HD and may serve as a useful guide for patients and clinicians.


Assuntos
Hemorroidas , Hemorroidas/terapia , Humanos , Metanálise como Assunto , Revisões Sistemáticas como Assunto
7.
Colorectal Dis ; 21(5): 532-537, 2019 05.
Artigo em Inglês | MEDLINE | ID: mdl-30637886

RESUMO

AIM: Resources used in surveillance colonoscopies are taking up an increasing proportion of colonoscopy capacity. Colon capsule endoscopy (CCE) is a promising technique for noninvasive investigation of the colon. We aimed to investigate CCE as a possible filter in colonic surveillance with the primary outcome of reducing the number of colonoscopies. METHOD: Patients scheduled for follow-up colonoscopy were subjected to a primary CCE and only supplemental conventional endoscopy if significant pathology was detected or if the CCE examination was incomplete. Significant pathology was defined as more than two small polyps, or one polyp greater than 9 mm or any polyp in patients with hereditary nonpolyposis colorectal cancer. Supplemental endoscopy was carried out to the extent needed to resect the detected polyps and investigate the parts of the colon that were not sufficiently visualized by the capsule. RESULTS: A total of 180 patients were included. Seventy-seven patients (43%) had a complete CCE with no significant findings. A complete colonoscopy was carried out in 67 patients (37%) and 36 patients (20%) underwent a sigmoidoscopy. In the 103 patients undergoing endoscopy, 59 (57%) had no adenomas detected, 33 (32%) had 'low-risk' adenomas and 11 (11%) had 'high-risk' adenomas. CONCLUSION: The introduction of CCE as filter test in colonic surveillance reduced colonoscopies by 43%, but this implies that untreated polyps are left behind and is not cost-effective. The CCE completion rate must be improved.


Assuntos
Endoscopia por Cápsula/estatística & dados numéricos , Pólipos do Colo/diagnóstico , Colonoscopia/estatística & dados numéricos , Neoplasias Colorretais/diagnóstico , Detecção Precoce de Câncer/métodos , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Ensaios Clínicos Controlados Aleatórios como Assunto
8.
Colorectal Dis ; 21(12): 1387-1396, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31318495

RESUMO

AIM: Anastomotic leakage (AL) is a common and serious complication following sphincter-preserving surgery for rectal cancer. Early detection and intervention can improve clinical outcomes. The aim of this prospective cohort study was to compare intraperitoneal microdialysis with a clinical scoring system for early detection of AL. METHOD: A microdialysis catheter was anchored near the anastomosis at low anterior resection (LAR) for rectal cancer. Peritoneal fluid samples were analysed (lactate, pyruvate, glucose and glycerol concentration) 4-hourly and compared with a daily clinical leak score (DULK = Dutch leakage). At day 7 a pelvic CT with rectal contrast enema was performed to establish if there had been a radiological leak. RESULTS: In this two-centre study, 129 patients [median age 65 (26-82) years; 60.5% male] underwent LAR. The leak rate was 27% (grade A, n = 11; grade B, n = 12; grade C, n = 12). Receiver operator characteristic analysis demonstrated a lactate cut-off value of 9.8 mm and had 77% sensitivity, 82% specificity, 78% accuracy, a positive predictive value (PPV) of 58, a negative predictive value (NPV) of 88 (CI 79-94) and an area under the curve (AUC) of 0.9 for AL. This compared with a clinical score ≥ 4, which had 57% sensitivity, 79% specificity, 71% accuracy, a PPV of 46, a NPV of 82 and an AUC of 0.7 for AL. The mean day for a positive test when using delta lactate ≥ 6.3 mm was 1.6 days and for leak score ≥ 4 it was 3.3 days (NS). CONCLUSION: When AL occurs, intraperitoneal lactate concentration increases over time, and at a certain cut-off has a higher sensitivity, specificity, accuracy, PPV and NPV than a clinical scoring system.


Assuntos
Fístula Anastomótica/diagnóstico , Indicadores Básicos de Saúde , Microdiálise/estatística & dados numéricos , Protectomia/efeitos adversos , Neoplasias Retais/cirurgia , Adulto , Idoso , Idoso de 80 Anos ou mais , Área Sob a Curva , Feminino , Humanos , Masculino , Microdiálise/métodos , Pessoa de Meia-Idade , Peritônio/diagnóstico por imagem , Valor Preditivo dos Testes , Estudos Prospectivos , Curva ROC , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Tomografia Computadorizada por Raios X
9.
Colorectal Dis ; 20(6): 479-485, 2018 06.
Artigo em Inglês | MEDLINE | ID: mdl-29166546

RESUMO

AIM: The aim was to determine the polyp detection rate and per-patient sensitivity for polyps > 9 mm of colon capsule endoscopy (CCE) compared with colonoscopy as well as the diagnostic accuracy of CCE. METHOD: Individuals who had a positive immunochemical faecal occult blood test during screening had investigator blinded CCE and colonoscopy. Participants underwent repeat endoscopy if significant lesions detected by CCE were considered to have been missed by colonoscopy. RESULTS: There were 253 participants. The polyp detection rate was significantly higher in CCE compared with colonoscopy (P = 0.02). The per-patient sensitivity for > 9 mm polyps for CCE and colonoscopy was 87% (95% CI: 83-91%) and 88% (95% CI: 84-92%) respectively. In participants with complete CCE and colonoscopy examinations (N = 126), per-patient sensitivity of > 9 mm polyps in CCE (97%; 95% CI: 94-100%) was superior to colonoscopy (89%; 95% CI: 84-94%). A complete capsule endoscopy examination (N = 134) could detect patients with intermediate or greater risk (according to the European guidelines) with an accuracy, sensitivity, specificity and positivity rate of 79%, 93%, 69% and 58% respectively, using a cut-off of at least one polyp > 10 mm or more than two polyps. CONCLUSION: CCE is superior to colonoscopy in polyp detection rate and per-patient sensitivity to > 9 mm polyps, but only in complete CCE examinations. The rate of incomplete CCE examinations must be improved.


Assuntos
Endoscopia por Cápsula , Pólipos do Colo/diagnóstico , Colonoscopia , Neoplasias Colorretais/diagnóstico , Idoso , Pólipos do Colo/patologia , Neoplasias Colorretais/patologia , Detecção Precoce de Câncer , Feminino , Humanos , Imunoquímica , Masculino , Pessoa de Meia-Idade , Sangue Oculto , Estudos Prospectivos , Sensibilidade e Especificidade , Carga Tumoral
10.
Colorectal Dis ; 20(1): 44-52, 2018 01.
Artigo em Inglês | MEDLINE | ID: mdl-28667683

RESUMO

AIM: Ileal pouch-anal anastomosis is a procedure offered to patients with ulcerative colitis who opt for restoration of bowel continuity. The aim of this study was to determine the risk of pouch failure and ascertain the risk factors associated with failure. METHOD: The study included 1991 patients with ulcerative colitis who underwent ileal pouch-anal anastomosis in Denmark in the period 1980-2013. Pouch failure was defined as excision of the pouch or presence of an unreversed stoma within 1 year after its creation. We used Cox proportional hazards regression to explore the association between pouch failure and age, gender, synchronous colectomy, primary faecal diversion, annual hospital volume (very low, 1-5 cases per year; low, 6-10; intermediate 11-20; high > 20), calendar year, laparoscopy and primary sclerosing cholangitis. RESULTS: Over a median 11.4 years, 295 failures occurred, corresponding to 5-, 10- and 20-year cumulative risks of 9.1%, 12.1% and 18.2%, respectively. The risk of failure was higher for women [adjusted hazard ratio (aHR) 1.39, 95% CI 1.10-1.75]. Primary non-diversion (aHR 1.63, 95% CI 1.11-2.41) and a low hospital volume (aHR, very low volume vs high volume 2.30, 95% CI 1.26-4.20) were also associated with a higher risk of failure. The risk of failure was not associated with calendar year, primary sclerosing cholangitis, synchronous colectomy or laparoscopy. CONCLUSION: In a cohort of patients from Denmark (where pouch surgery is centralized) with ulcerative colitis and ileal pouch-anal anastomosis, women had a higher risk of pouch failure. Of modifiable factors, low hospital volume and non-diversion were associated with a higher risk of pouch failure.


Assuntos
Colite Ulcerativa/cirurgia , Bolsas Cólicas/efeitos adversos , Complicações Pós-Operatórias/etiologia , Proctocolectomia Restauradora/efeitos adversos , Adulto , Estudos de Coortes , Dinamarca , Feminino , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Complicações Pós-Operatórias/epidemiologia , Modelos de Riscos Proporcionais , Sistema de Registros , Fatores de Risco , Adulto Jovem
11.
Br J Surg ; 104(11): 1462-1469, 2017 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-28895143

RESUMO

BACKGROUND: Intraoperative ultrasonography during open surgery for colorectal cancer may be useful for the detection of unrecognized liver metastases. Laparoscopic ultrasonography (LUS) for the detection of unrecognized liver metastasis has not been studied in a randomized trial. This RCT tested the hypothesis that LUS would change the TNM stage and treatment strategy. METHODS: Patients with colorectal cancer and no known metastases were randomized (1 : 1) to laparoscopic examination (control or laparoscopy plus LUS) in three Danish centres. Neither participants nor staff were blinded to the group assignment. RESULTS: Three hundred patients were randomized, 150 in each group. After randomization, 43 patients were excluded, leaving 128 in the control group and 129 in the LUS group. Intraoperative T and N categories were not altered by LUS, but laparoscopy alone identified previously undetected M1 disease in one patient (0·8 per cent) in the control group and three (2·3 per cent) in the LUS group. In the latter group, LUS suggested that an additional six patients (4·7 per cent) had M1 disease with liver (4) or para-aortal lymph node (2) metastases. The change in treatment strategy was greater in the LUS than in the control group (7·8 (95 per cent c.i. 3·8 to 13·8) and 0·8 (0 to 4·2) per cent respectively; P = 0·010), but the suspected M1 disease was benign in half of the patients. CONCLUSION: Routine LUS during resection of colorectal cancer is not recommended. Registration number: NCT02079389 (http://www.clinicaltrials.gov).


Assuntos
Neoplasias Colorretais/diagnóstico por imagem , Neoplasias Colorretais/cirurgia , Laparoscopia , Cuidados Pré-Operatórios , Idoso , Idoso de 80 Anos ou mais , Aorta Abdominal/diagnóstico por imagem , Tomada de Decisão Clínica , Neoplasias Colorretais/patologia , Feminino , Humanos , Neoplasias Hepáticas/diagnóstico por imagem , Neoplasias Hepáticas/secundário , Metástase Linfática/diagnóstico por imagem , Masculino , Pessoa de Meia-Idade , Estadiamento de Neoplasias , Neoplasias Peritoneais/diagnóstico por imagem , Neoplasias Peritoneais/secundário , Estudos Prospectivos
12.
Acta Paediatr ; 106(7): 1165-1169, 2017 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-28374507

RESUMO

AIM: Inserting a feeding tube using percutaneous endoscopic gastrostomy may be necessary to ensure that children with eating problems receive sufficient enteral nutrition. The aim of this study was to investigate the perioperative and postoperative complications of percutaneous endoscopic gastrostomy when the pull-through method was the standard procedure. METHODS: This was a retrospective review of 229 children (50.7% male) who underwent a gastrostomy procedure at Odense University Hospital, Denmark, from January 1, 2000 to December 31, 2012. The median age of the children was 1.6 years (range: 0-14.9), and the follow-up period was 36 months. Complications were graded according to the Clavien-Dindo classification. RESULTS: A total of 167 postoperative complications occurred in 118 of the 229 patients (51.5%). Of these, 89 were grade 1 complications, 49 were grade 2 complications, and 29 were grade 3b complications. No gastrostomy-related deaths were observed, and no single preoperative risk factor was identified. Perioperative complications were experienced by 2.6% of the patients. CONCLUSION: Gastrostomy feeding tube placement was associated with a high rate of postoperative complications of various grades when the pull-through method was the standard procedure. A consensus on how to report and grade complications arising from this procedure is warranted.


Assuntos
Gastroscopia/efeitos adversos , Gastrostomia/efeitos adversos , Complicações Pós-Operatórias/epidemiologia , Adolescente , Criança , Pré-Escolar , Dinamarca/epidemiologia , Nutrição Enteral , Feminino , Gastroscopia/métodos , Gastrostomia/métodos , Humanos , Lactente , Masculino , Complicações Pós-Operatórias/etiologia , Estudos Retrospectivos
13.
Clin Genet ; 90(1): 55-62, 2016 07.
Artigo em Inglês | MEDLINE | ID: mdl-26572829

RESUMO

Patients with germline mutations in SMAD4 can present symptoms of both juvenile polyposis syndrome (JPS) and hereditary hemorrhagic telangiectasia (HHT): the JP-HHT syndrome. The complete phenotypic picture of this syndrome is only just emerging. We describe the clinical characteristics of 14 patients with SMAD4-mutations. The study was a retrospective, register-based study. SMAD4 mutations carriers were identified through the Danish HHT-registry, the genetic laboratories - and the genetic departments in Denmark. The medical files from relevant departments were reviewed and symptoms of HHT, JPS, aortopathy and family history were noted. We detected 14 patients with SMAD4 mutations. All patients had polyps removed and 11 of 14 fulfilled the diagnostic criteria for JPS. Eight patients were screened for HHT-symptoms and seven of these fulfilled the Curaçao criteria. One patient had aortic root dilation. Our findings support that SMAD4 mutations carriers have symptoms of both HHT and JPS and that the frequency of PAVM and gastric involvement with polyps is higher than in patients with HHT or JPS not caused by a SMAD4 mutation. Out of eight patients screened for aortopathy, one had aortic root dilatation, highlighting the need for additional screening for aortopathy.


Assuntos
Polipose Intestinal/congênito , Mutação , Síndromes Neoplásicas Hereditárias/genética , Fenótipo , Sistema de Registros , Proteína Smad4/genética , Telangiectasia Hemorrágica Hereditária/genética , Adolescente , Adulto , Idoso , Aorta/metabolismo , Aorta/patologia , Dinamarca , Feminino , Expressão Gênica , Heterozigoto , Humanos , Polipose Intestinal/complicações , Polipose Intestinal/diagnóstico , Polipose Intestinal/genética , Polipose Intestinal/cirurgia , Masculino , Pessoa de Meia-Idade , Síndromes Neoplásicas Hereditárias/complicações , Síndromes Neoplásicas Hereditárias/diagnóstico , Síndromes Neoplásicas Hereditárias/cirurgia , Estudos Retrospectivos , Telangiectasia Hemorrágica Hereditária/complicações , Telangiectasia Hemorrágica Hereditária/diagnóstico , Telangiectasia Hemorrágica Hereditária/cirurgia
14.
Int J Colorectal Dis ; 31(5): 997-1004, 2016 May.
Artigo em Inglês | MEDLINE | ID: mdl-26979979

RESUMO

PURPOSE: In this paper, we aimed to collect genetic and medical information on all Danish patients with Peutz-Jeghers syndrome (PJS), in order to contribute to the knowledge of phenotype and genotype. Peutz-Jeghers syndrome is a hereditary syndrome characterized by multiple hamartomatous polyps in the GI tract, mucocutaneous pigmentations, and an increased risk of cancer in the GI tract and at extraintestinal sites. Over 90 % of patients harbour a pathogenic mutation in STK11. METHODS: Based on the Danish Pathology Data Bank, the Danish National Patient Register, as well as information from relevant departments at Danish hospitals, we identified patients and collected clinical and genetic information. RESULTS: We identified 43 patients of which 14 were deceased. The prevalence was estimated to be ∼1 in 195,000 individuals. The median age at first symptom was 27.5 with invagination of the small bowel as the most frequent presenting symptom. We noted 18 occurrences of cancer at various anatomical sites, including a case of thyroid cancer and penile cancer. Eight of the deceased patients had died of cancer. Eighteen different mutations in STK11 had been detected in 28 patients. CONCLUSION: This is the first comprehensive study of patients with Peutz-Jeghers syndrome in the Danish population identified from nationwide registers and databases. We have demonstrated that the expressivity of Peutz-Jeghers syndrome varies greatly among the patients, even within the same families, underlining the great phenotypic spectrum. Patients with PJS should be offered surveillance from childhood in order to prevent morbidity and reduce mortality.


Assuntos
Síndrome de Peutz-Jeghers/diagnóstico , Síndrome de Peutz-Jeghers/patologia , Quinases Proteína-Quinases Ativadas por AMP , Adulto , Idoso , Idoso de 80 Anos ou mais , Causas de Morte , Dinamarca/epidemiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Mutação/genética , Neoplasias/patologia , Síndrome de Peutz-Jeghers/epidemiologia , Pólipos/patologia , Vigilância da População , Prevalência , Proteínas Serina-Treonina Quinases/genética , Adulto Jovem
15.
Dis Esophagus ; 28(3): 240-5, 2015 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-24446895

RESUMO

Repair of long-gap esophageal atresia is associated with a high degree of complications. Tissue engineering on a scaffold of a bioresorbable material could be a solution. The aim of the present study was to investigate the in vivo tissue engineering of smooth muscle cells and epithelium on a poly-ε-caprolactone mesh in rabbit esophagus. Twenty female rabbits had a window of 0.6 × 1 cm cut in the abdominal part of the esophagus. The defect was covered with a poly-ε-caprolactone mesh. The rabbits were killed on postoperative day 28-30, and mesh with surrounding esophagus was removed for histological examination. Fifteen rabbits survived the trial period. Six had no complications and had the mesh in situ. They all had ingrowth of epithelial and smooth muscle cells and an almost completely degraded mesh. Nine rabbits developed pseudo-diverticula. It proved possible to engineer both epithelial and smooth muscle cells on the poly-ε-caprolactone mesh in spite of a fast mesh degradation. The latter may be the explanation to the development of pseudo-diverticula; this is a problem that needs attention in future experimental trials.


Assuntos
Materiais Biocompatíveis/uso terapêutico , Esôfago/cirurgia , Poliésteres/uso terapêutico , Telas Cirúrgicas , Engenharia Tecidual/métodos , Alicerces Teciduais/química , Animais , Proliferação de Células , Divertículo Esofágico/etiologia , Células Epiteliais , Atresia Esofágica/cirurgia , Esôfago/fisiologia , Feminino , Miócitos de Músculo Liso , Complicações Pós-Operatórias , Coelhos , Telas Cirúrgicas/efeitos adversos , Alicerces Teciduais/efeitos adversos
16.
Tech Coloproctol ; 18(11): 1067-74, 2014 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-25148865

RESUMO

BACKGROUND: Anastomotic leakage (AL) after rectosigmoid resection is a serious complication associated with high morbidity and mortality. This case-control pilot study investigated the changes in blood concentration of 10 different cytokines and 2 complement factors in relation to symptomatic AL after low anterior resection for rectosigmoid cancer. METHODS: Fifty patients scheduled for resection of rectosigmoid cancer had blood samples taken the day before surgery and on post-operative days 1, 3 and 5. Four patients with symptomatic AL were identified. Twenty-two age- and disease-matched patients constituted the control group. The concentration of 10 cytokines (granulocyte macrophage colony-stimulating factor, interferon-γ, interleukin-1ß, interleukin-2, interleukin-4, interleukin-5, interleukin-6, interleukin-8, interleukin-10 and tumour necrosis factor-α) and 2 complement factors (mannan-binding lectin and membrane attack complex) were measured. RESULTS: The present study demonstrated that plasma concentration of interleukin-1ß, interleukin-6, interleukin-8 and interleukin 10 within the first 5 post-operative days was increased in patients who developed early clinical AL, whereas there were no changes in patients with late-onset AL. CONCLUSIONS: The demonstrated differences in the cytokine response in early and late AL may support the theory of different pathological mechanisms of AL.


Assuntos
Fístula Anastomótica/sangue , Colectomia/métodos , Neoplasias Colorretais/cirurgia , Citocinas/sangue , Idoso , Idoso de 80 Anos ou mais , Fístula Anastomótica/epidemiologia , Biomarcadores/sangue , Colo Sigmoide/cirurgia , Neoplasias Colorretais/sangue , Dinamarca/epidemiologia , Feminino , Seguimentos , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Projetos Piloto , Prognóstico , Estudos Retrospectivos
17.
Colorectal Dis ; 15(4): 436-41, 2013 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-22958269

RESUMO

AIM: The aim of the study was to evaluate intra-operative difficulties, complications and long-term bowel function in polyposis patients undergoing conversion of an ileorectal anastomosis to an ileoanal pouch, compared with patients with a primary ileoanal pouch operation. METHOD: A national register-based retrospective study was performed with clinical follow-up and a questionnaire on long-term bowel function. RESULTS: There were 84 patients in the study: 59 (70%) had a primary pouch operation and in 25 (30%) a secondary pouch procedure was attempted. This was abandoned, in one case, leaving 24 patients who had a successful secondary restorative proctocolectomy. The median (range) follow-up was 123 (0-359) months. There were no intra-operative difficulties in the 59 primary operations, but intra-operative difficulties were reported in nine of 25 secondary operations (P < 0.001). Complications within 1 month of surgery occurred in six of 59 primary operations and in none of 24 secondary operations (P < 0.001); and late surgical complications occurred in eight of 55 primary operations and in eight of 24 secondary operations (P = 0.13). The only difference in bowel function was a lower frequency of nocturnal defaecation after secondary pouch formation (P = 0.02). CONCLUSION: Reoperation with proctectomy after a previous ileorectal anastomosis and conversion to restorative proctocolectomy is feasible in polyposis patients, with morbidity and functional results similar to those seen after a primary pouch operation.


Assuntos
Polipose Adenomatosa do Colo/cirurgia , Bolsas Cólicas/fisiologia , Íleo/cirurgia , Proctocolectomia Restauradora , Reto/cirurgia , Adolescente , Adulto , Anastomose Cirúrgica , Colectomia , Defecação/fisiologia , Dinamarca , Feminino , Seguimentos , Humanos , Masculino , Proctocolectomia Restauradora/efeitos adversos , Estudos Retrospectivos , Adulto Jovem
18.
BJS Open ; 5(5)2021 09 06.
Artigo em Inglês | MEDLINE | ID: mdl-34518869

RESUMO

BACKGROUND: In patients with active Crohn's disease (CD), treatment of intra-abdominal abscess usually comprises antibiotics and radiologically guided percutaneous drainage (PD) preceding surgery. The aim of this study was to investigate the risk of postoperative complications and identify the optimal time interval for surgical intervention after PD. METHODS: A multicentre, international, retrospective cohort study was carried out. Details of patients with diagnosis of CD who underwent ultrasonography- or CT-guided PD were retrieved from hospital records using international classification of disease (ICD-10) diagnosis code for CD combined with procedure code for PD. Clinical variables were retrieved and the following outcomes were measured: 30-day postoperative overall complications, intra-abdominal septic complications, unplanned intraoperative adverse events, surgical-site infections, sepsis and pathological postoperative ileus, in addition to abscess recurrence. Patients were categorized into three groups according to the length of the interval from PD to surgery (1-14 days, 15-30 days and more than 30 days) for comparison of outcomes. RESULTS: The cohort comprised 335 CD patients with PD followed by surgery. Median age was 33 (i.q.r. 24-44) years, 152 (45.4 per cent) were females, and median disease duration was 9 (i.q.r. 3.6-15) years. Overall, the 30-day postoperative complications rate was 32.2 per cent and the mortality rate was 1.5 per cent. After adjustment for co-variables, older age (odds ratio 1.03 (95 per cent c.i. 1.01 to 1.06), P < 0.012), residual abscess after PD (odds ratio 0.374 (95 per cent c.i. 0.19 to 0.74), P < 0.014), smoking (odds ratio 1.89 (95 per cent c.i. 1.01 to 3.53), P = 0.049) and low serum albumin concentration (odds ratio 0.921 (95 per cent c.i. 0.89 to 0.96), P < 0.001) were associated with higher rates of postoperative complications. A short waiting interval, less than 2 weeks after PD, was associated with a high incidence of abscess recurrence (odds ratio 0.59 (95 per cent c.i. 0.36 to 0.96), P = 0.042). CONCLUSION: Smoking, low serum albumin concentration and older age were significantly associated with postoperative complications. An interval of at least 2 weeks after successful PD correlated with reduced risk of abscess recurrence.


Assuntos
Abscesso Abdominal , Doença de Crohn , Abscesso Abdominal/diagnóstico por imagem , Abscesso Abdominal/etiologia , Abscesso Abdominal/cirurgia , Adulto , Idoso , Doença de Crohn/complicações , Doença de Crohn/cirurgia , Drenagem , Feminino , Humanos , Estudos Retrospectivos , Listas de Espera
19.
Br J Surg ; 97(2): 167-76, 2010 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-20035531

RESUMO

BACKGROUND: : This multicentre randomized clinical trial studied how symptoms improved after either stapled anopexy or diathermy excision of haemorrhoids. METHODS: : The study involved 18 hospitals in Sweden, Denmark and the UK. Some 207 patients were randomized to either anopexy or Milligan-Morgan haemorrhoidectomy, of whom 90 in each group were operated on. Patients reported symptoms before surgery and after 1 year. Daily postoperative pain scores were recorded in a patient diary. Surgeons evaluated the anal anatomy before surgery and after 1 year. RESULTS: : Correction of prolapse in the anopexy and haemorrhoidectomy groups was similar at 1 year (88 and 90 per cent respectively; P = 0.80). Freedom from symptoms was obtained in 44 and 69 per cent respectively (P = 0.002). Stapled anopexy was associated with less postoperative pain, which resolved more quickly (P = 0.004). Significant improvements were noted in anal continence and well-being 1 year after both operations (P < 0.001). Excessive pain was the most common complication after diathermy excision and disturbed bowel function after stapled anopexy. CONCLUSION: : Haemorrhoidal prolapse was corrected equally by either operation. Diathermy haemorrhoidectomy gave better symptom relief but was more painful. Neither operation provided complete cure but well-being was greatly improved. REGISTRATION NUMBER: ISRCTN68315343 (http://www.controlled-trials.com).


Assuntos
Canal Anal/cirurgia , Eletrocoagulação/métodos , Hemorroidas/cirurgia , Prolapso Retal/cirurgia , Grampeamento Cirúrgico , Adulto , Idoso , Idoso de 80 Anos ou mais , Incontinência Fecal/etiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Medição da Dor , Dor Pós-Operatória/etiologia , Complicações Pós-Operatórias/etiologia , Hemorragia Pós-Operatória/etiologia , Resultado do Tratamento , Adulto Jovem
20.
Sci Rep ; 10(1): 6016, 2020 04 07.
Artigo em Inglês | MEDLINE | ID: mdl-32265467

RESUMO

Anorectal malformations (ARM) are a spectrum of anomalies of the rectum and anal canal affecting 1 in 2500 to 5000 live births. Functional problems are common and related to the type of ARM and associated malformations. We aimed to evaluate the results of Three-dimensional High Resolution Anorectal Manometry (3D-HRAM) in long-term follow-up after surgical correction of ARM with special reference to fecal incontinence. Twenty-one patients with anorectal malformations and primary repair at our center consented to participate in the study. Pressures of the anal sphincter muscles and defects were addressed by 3D-HRAM. Fecal incontinence and disease-specific quality of life were evaluated by the Fecal Incontinence Quality of Life score and Wexner incontinence score respectively. The study was approved by the Committee in Health Research Ethics and the Danish Data Protection Agency. Median age was 22(12-31) years and 13(67%) participants were females. Sphincter defect was present in 48% (N = 10) of participants. Participants with sphincter defects had significant higher Wexner score and size of sphincter defects and mean anal squeeze pressure were correlated to Wexner score. Participants with or without sphincter defects did not differ on manometry parameters including resting anal and squeeze pressure or disease-specific quality of life. In a study of the long-term outcome after repair of anorectal malformations we found a higher Wexner incontinence score in the presence of an anal sphincter defect and the size of the defect and mean anal squeeze pressure were correlated to the Wexner incontinence score.


Assuntos
Malformações Anorretais/patologia , Incontinência Fecal/patologia , Adolescente , Adulto , Canal Anal/patologia , Malformações Anorretais/complicações , Criança , Estudos Transversais , Incontinência Fecal/complicações , Feminino , Humanos , Masculino , Qualidade de Vida , Reto/patologia , Índice de Gravidade de Doença , Adulto Jovem
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