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1.
BMJ ; 385: e079014, 2024 Jun 17.
Artigo em Inglês | MEDLINE | ID: mdl-38886011

RESUMO

OBJECTIVE: To assess the effect of lateral episiotomy, compared with no episiotomy, on obstetric anal sphincter injury in nulliparous women requiring vacuum extraction. DESIGN: A multicentre, open label, randomised controlled trial. SETTING: Eight hospitals in Sweden, 2017-23. PARTICIPANTS: 717 nulliparous women with a single live fetus of 34 gestational weeks or more, requiring vacuum extraction were randomly assigned (1:1) to lateral episiotomy or no episiotomy using sealed opaque envelopes. Randomisation was stratified by study site. INTERVENTION: A standardised lateral episiotomy was performed during the vacuum extraction, at crowning of the fetal head, starting 1-3 cm from the posterior fourchette, at a 60° (45-80°) angle from the midline, and 4 cm (3-5 cm) long. The comparison was no episiotomy unless considered indispensable. MAIN OUTCOME MEASURES: The primary outcome of the episiotomy in vacuum assisted delivery (EVA) trial was obstetric anal sphincter injury, clinically diagnosed by combined visual inspection and digital rectal and vaginal examination. The primary analysis used a modified intention-to-treat population that included all consenting women with attempted or successful vacuum extraction. As a result of an interim analysis at significance level P<0.01, the primary endpoint was tested at 4% significance level with accompanying 96% confidence interval (CI). RESULTS: From 1 July 2017 to 15 February 2023, 717 women were randomly assigned: 354 (49%) to lateral episiotomy and 363 (51%) to no episiotomy. Before vacuum extraction attempt, one woman withdrew consent and 14 had a spontaneous birth, leaving 702 for the primary analysis. In the intervention group, 21 (6%) of 344 women sustained obstetric anal sphincter injury, compared with 47 (13%) of 358 women in the comparison group (P=0.002). The risk difference was -7.0% (96% CI -11.7% to -2.5%). The risk ratio adjusted for site was 0.47 (96% CI 0.23 to 0.97) and unadjusted risk ratio was 0.46 (0.28 to 0.78). No significant differences were noted between groups in postpartum pain, blood loss, neonatal outcomes, or total adverse events, but the intervention group had more wound infections and dehiscence. CONCLUSIONS: Lateral episiotomy can be recommended for nulliparous women requiring vacuum extraction to significantly reduce the risk of obstetric anal sphincter injury. TRIAL REGISTRATION: ClinicalTrials.gov NCT02643108.


Assuntos
Canal Anal , Episiotomia , Paridade , Vácuo-Extração , Humanos , Feminino , Episiotomia/métodos , Episiotomia/estatística & dados numéricos , Episiotomia/efeitos adversos , Gravidez , Vácuo-Extração/efeitos adversos , Adulto , Canal Anal/lesões , Suécia , Complicações do Trabalho de Parto/prevenção & controle , Lacerações/prevenção & controle , Lacerações/etiologia , Adulto Jovem
2.
Langenbecks Arch Surg ; 409(1): 187, 2024 Jun 18.
Artigo em Inglês | MEDLINE | ID: mdl-38888662

RESUMO

PURPOSE: Coloanal anastomosis with loop diverting ileostomy (CAA) is an option for low anterior resection of the rectum, and Turnbull-Cutait coloanal anastomosis (TCA) regained popularity in the effort to offer patients a reconstructive option. In this context, we aimed to compare both techniques. METHODS: PubMed, Cochrane, and Scopus were searched for studies published until January 2024. Odds ratios (RRs) with 95% confidence intervals (CIs) were pooled with a random-effects model. Statistical significance was defined as p < 0.05. Heterogeneity was assessed using the Cochran Q test and I2 statistics, with p-values inferior to 0.10 and I2 >25% considered significant. Statistical analysis was conducted in RStudio version 4.1.2 (R Foundation for Statistical Computing). Registered number CRD42024509963. RESULTS: One randomized controlled trial and nine observational studies were included, comprising 1,743 patients, of whom 899 (51.5%) were submitted to TCA and 844 (48.5%) to CAA. Most patients had rectal cancer (52.2%), followed by megacolon secondary to Chagas disease (32.5%). TCA was associated with increased colon ischemia (OR 3.54; 95% CI 1.13 to 11.14; p < 0.031; I2 = 0%). There were no differences in postoperative complications classified as Clavien-Dindo ≥ IIIb, anastomotic leak, pelvic abscess, intestinal obstruction, bleeding, permanent stoma, or anastomotic stricture. In subgroup analysis of patients with cancer, TCA was associated with a reduction in anastomotic leak (OR 0.55; 95% CI 0.31 to 0.97 p = 0.04; I2 = 34%). CONCLUSION: TCA was associated with a decrease in anastomotic leak rate in subgroups analysis of patients with cancer.


Assuntos
Anastomose Cirúrgica , Ileostomia , Neoplasias Retais , Humanos , Anastomose Cirúrgica/métodos , Ileostomia/métodos , Ileostomia/efeitos adversos , Neoplasias Retais/cirurgia , Colo/cirurgia , Canal Anal/cirurgia , Protectomia/métodos , Protectomia/efeitos adversos , Fístula Anastomótica/etiologia , Fístula Anastomótica/epidemiologia , Complicações Pós-Operatórias/etiologia , Complicações Pós-Operatórias/epidemiologia
3.
Rev Med Suisse ; 20(878): 1145-1150, 2024 Jun 12.
Artigo em Francês | MEDLINE | ID: mdl-38867558

RESUMO

Perineal injuries can occur during vaginal delivery and they are harmful to anal function, sexuality, and overall quality of life of patients. Among the feared complications, anal incontinence, often difficult to address for both patients and caregivers, has a significant impact and must be looked for during the medical history. Clinical examination of the perineum and additional tests such as endoanal ultrasound and anorectal manometry confirm the diagnosis and guide the management. Treatment often relies on multiple modalities and depends on the interval between obstetric trauma and symptom onset. When indicated, perineal reconstruction surgery restores anatomy and function.


Des lésions périnéales peuvent survenir lors d'un accouchement par voie basse et avoir des conséquences néfastes sur la fonction anale, la sexualité et la qualité de vie globale des patientes. Parmi les complications redoutées, l'incontinence anale, souvent difficile à aborder pour les patientes et les soignants, a un retentissement important et doit être recherchée lors de l'anamnèse. L'examen clinique du périnée et les examens complémentaires tels que l'échographie endoanale et la manométrie anorectale permettent de confirmer le diagnostic et d'orienter la prise en charge. Le traitement repose souvent sur plusieurs modalités et dépend du délai entre le traumatisme obstétrical et la survenue des symptômes. Lorsqu'elle est indiquée, la chirurgie de reconstruction du périnée permet de restaurer l'anatomie et de rétablir la fonction.


Assuntos
Parto Obstétrico , Períneo , Humanos , Feminino , Períneo/lesões , Parto Obstétrico/métodos , Parto Obstétrico/efeitos adversos , Gravidez , Incontinência Fecal/etiologia , Incontinência Fecal/diagnóstico , Incontinência Fecal/terapia , Canal Anal/lesões , Complicações do Trabalho de Parto/diagnóstico , Complicações do Trabalho de Parto/etiologia , Qualidade de Vida
4.
Rev Med Suisse ; 20(878): 1151-1157, 2024 Jun 12.
Artigo em Francês | MEDLINE | ID: mdl-38867559

RESUMO

Anal pain can be acute (most commonly related to anal fissure, perianal abcess or fistula, perianal vein thrombosis) or chronic (functional or neuropathic) including levator ani syndrome, proctalgia fugax, pudendal nevralgia and coccygodynia. History and clinical examination are keys to diagnose acute causes. Diagnosis of chronic anal pain on the other hand is more challenging and based on thorough history and analysis of symptoms. The aim of this article is to discuss the main etiologies and treatments of acute and chronic anal pain, including an update on the management and treatment of hemorrhoidal disease and postoperative pain management.


La douleur anale peut être de survenue aiguë (le plus fréquemment en lien avec une fissure anale, un abcès ou fistule anale, ou une thrombose des veines périanales) ou chronique (fonctionnelle ou neuropathique), comportant le syndrome du releveur de l'anus, la proctalgia fugax, la névralgie du pudendal et les coccygodynies. Le diagnostic d'une douleur anale aiguë est rapidement posé grâce à l'anamnèse et surtout l'examen clinique. Les causes chroniques sont en revanche plus difficiles à diagnostiquer et nécessitent un interrogatoire détaillé avec une analyse approfondie des symptômes. Le but de cet article est d'explorer le traitement des étiologies de douleur anale aiguë, de pouvoir reconnaître une grande part des douleurs anales chroniques, sans oublier une mise à jour sur la maladie hémorroïdaire avec la prévention et gestion des douleurs postopératoires.


Assuntos
Dor Aguda , Dor Crônica , Humanos , Dor Crônica/terapia , Dor Crônica/diagnóstico , Dor Crônica/etiologia , Dor Aguda/terapia , Dor Aguda/etiologia , Dor Aguda/diagnóstico , Doenças do Ânus/terapia , Doenças do Ânus/diagnóstico , Doenças do Ânus/etiologia , Manejo da Dor/métodos , Canal Anal
5.
Artigo em Inglês | MEDLINE | ID: mdl-38865574

RESUMO

Women living with human immunodeficiency virus are at an increased risk of developing cancers related to human papillomavirus (HPV). Thus, it is important to combine clinical assessments, serological screening, and HPV data for planning prevention policies. This study aimed to identify HPV and its specific types in the cervical, anal, and oral mucosa of HIV-seropositive women, associating it with viral load and lymphocyte count. Sociodemographic characteristics, health data (CD4+ and CD8+ T cell counts and viral load), and biological samples (cervical, anal, and oral) were collected from 86 HIV-positive women undergoing antiretroviral therapy. Data were classified according to the presence or absence of HPV-DNA, HPV-DNA presence at one or more anatomic sites, and level of oncogenic risk, considering low- and high-risk oncogenic HPV-DNA groups. The presence of HPV in the cervicovaginal site was 65.9%, 63.8% in anal canal, and 4.2% in oral mucosa. A viral load ≥75 HIV copies/mL was associated with the presence of HPV-DNA. There was an association between viral load and the low-risk HPV or high-risk HPV groups. We found a high prevalence of HPV infection in HIV-seropositive women, particularly in the cervical and anal mucosa, with viral load ≥75 HIV copies/mL being associated with HPV-DNA presence.


Assuntos
Colo do Útero , DNA Viral , Infecções por HIV , Infecções por Papillomavirus , Carga Viral , Humanos , Feminino , Infecções por Papillomavirus/complicações , Adulto , Infecções por HIV/complicações , Infecções por HIV/virologia , DNA Viral/análise , Colo do Útero/virologia , Papillomaviridae/genética , Papillomaviridae/isolamento & purificação , Pessoa de Meia-Idade , Contagem de Linfócitos , Mucosa Bucal/virologia , Canal Anal/virologia , Prevalência , Estudos Transversais , Fatores Socioeconômicos , Contagem de Linfócito CD4 , Fatores de Risco , Papillomavirus Humano
6.
Eur Rev Med Pharmacol Sci ; 28(10): 3642-3649, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38856140

RESUMO

OBJECTIVE: Anastomosis leakage in laparoscopic surgery for rectal cancer is still a serious problem affecting the patient's treatment outcome. This study aimed to evaluate the role of a transanal drainage tube compared with a diverting stoma in reducing the rate of anastomosis leakage and limiting surgical complications. PATIENTS AND METHODS: A retrospective study was conducted on 196 rectal cancer patients undergoing laparoscopic low anterior resection from July 2018 to October 2022 at 108 Central Military Hospital. The transanal drainage tube was placed in 133 patients (group A), and diverting stoma was performed in 63 patients (group B). RESULTS: There was no difference between the two groups regarding age, sex, comorbidities, distance from the tumor to the anal verge, and preoperative stage. The amount of blood loss, the method of performing the anastomosis, and the distance from the anastomosis to the anal verge did not differ between the two groups. However, the surgical time was longer in the group with diverting stoma (138.3 ± 25.1 minutes vs. 127.6 ± 31 minutes, p = 0.018). The rate of anastomosis was not significantly different between groups A and B (8.3% in group A and 7.9% in group B, p = 0.936). The proportion of patients with anastomosis requiring reoperation in group A was higher than in group B. However, the difference was not statistically significant (8/11 patients in group A and 2/5 patients in group B, p = 0.29). CONCLUSIONS: Placing a transanal drainage tube in laparoscopic surgery for rectal cancer to reduce the rate of anastomosis can be considered an alternative method for diverting stoma with complications related to the stoma.


Assuntos
Fístula Anastomótica , Drenagem , Laparoscopia , Neoplasias Retais , Humanos , Neoplasias Retais/cirurgia , Fístula Anastomótica/etiologia , Laparoscopia/efeitos adversos , Feminino , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Idoso , Estomas Cirúrgicos/efeitos adversos , Canal Anal/cirurgia , Anastomose Cirúrgica/efeitos adversos , Adulto
7.
Int J Colorectal Dis ; 39(1): 87, 2024 Jun 07.
Artigo em Inglês | MEDLINE | ID: mdl-38847931

RESUMO

PURPOSE: Solitary fibrous tumors (SFT) are a rare entity of in majority benign neoplasms. Nevertheless, up to 20% of cases show a malignant tendency with local infiltration or metastasis. Commonly arising in the thoracic cavity, only few cases of SFT of the mesorectal tissue have been reported in the literature. Complete surgical resection, classically by posterior approach, is the treatment of choice. The purpose of this review is to demonstrate the safety and suitability of transanal minimally invasive surgery (TAMIS) as a surgical approach for the resection of benign pararectal solid tumors. METHODS: We report the case of a 52-year-old man who was diagnosed incidentally with SFT of the distal mesorectum. Resection by TAMIS was performed. Based on this case, we describe the steps and potential benefits of this procedure and provide a comprehensive review of the literature. RESULTS: Histopathology confirms the completely resected SFT. After uneventful postoperative course and discharge on day four, follow-up was recommended by a multidisciplinary board by clinical examination and MRI, which showed a well-healed scar and no recurrence up to 3 years after resection. CONCLUSION: SFT of the mesorectum is a very rare entity. To our knowledge, this is the first report on a TAMIS resection for SFT, demonstrated as a safe approach for complete resection of benign pararectal solid tumors.


Assuntos
Tumores Fibrosos Solitários , Humanos , Masculino , Pessoa de Meia-Idade , Tumores Fibrosos Solitários/cirurgia , Tumores Fibrosos Solitários/patologia , Tumores Fibrosos Solitários/diagnóstico por imagem , Neoplasias Retais/cirurgia , Neoplasias Retais/patologia , Neoplasias Retais/diagnóstico por imagem , Procedimentos Cirúrgicos Minimamente Invasivos/métodos , Canal Anal/cirurgia , Canal Anal/patologia , Cirurgia Endoscópica Transanal/métodos , Imageamento por Ressonância Magnética
8.
Birth Defects Res ; 116(6): e2347, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38822636

RESUMO

BACKGROUND: Measurement of rat anogenital distance (AGD) dates to at least 1912. Increased interest in endocrine disrupting chemicals and the use of AGD as a biomarker for fetal androgen effects have increased the number of studies with this endpoint in recent decades. A literature review revealed different landmarks, methods of measurement, and methods to adjust for body weight differences. AGD is often reported to hundredths of millimeters and as such, deserves precision in all these aspects. This paper presents recommendations for the measurement and analysis of rodent AGD. METHODS: Literature and regulatory guidance documents that mentioned or measured rodent AGD were reviewed. Four adjustment methods were evaluated using available online data from three rat studies each with two generations of offspring. RESULTS: Tabulation of studies reveals that species/stocks and time of data collection, but more importantly anatomical landmarks and methods of measurement have produced a variety of results which are difficult to compare. Not all studies have adjusted for test article effects on body weight (and thus size). The four adjustment methods were fairly comparable. CONCLUSION: Recommendations are as follows. A microscopic method should be used to measure AGD of late rodent fetuses and early postnatal pups. The caudal edge of the genital tubercle and the cranial edge of the anus are clear and identifiable landmarks. The simplest adjustment is to divide individual AGDs by the cube root of animals' body weight. These recommendations will help ensure data consistency and accuracy, and facilitate meaningful comparisons across laboratories and chemical classes.


Assuntos
Canal Anal , Animais , Ratos , Canal Anal/anatomia & histologia , Canal Anal/embriologia , Feminino , Masculino , Gravidez , Roedores/anatomia & histologia , Peso Corporal , Feto/anatomia & histologia , Genitália/anatomia & histologia , Genitália/embriologia
9.
Int J Colorectal Dis ; 39(1): 85, 2024 Jun 05.
Artigo em Inglês | MEDLINE | ID: mdl-38837095

RESUMO

BACKGROUND: Rectal cancer (RC) is a surgical challenge due to its technical complexity. The double-stapled (DS) technique, a standard for colorectal anastomosis, has been associated with notable drawbacks, including a high incidence of anastomotic leak (AL). Low anterior resection with transanal transection and single-stapled (TTSS) anastomosis has emerged to mitigate those drawbacks. METHODS: Observational study in which it described the technical aspects and results of the initial group of patients with medium-low RC undergoing elective laparoscopic total mesorectal excision (TME) and TTSS. RESULTS: Twenty-two patients were included in the series. Favourable postoperative outcomes with a median length of stay of 5 days and an AL incidence of 9.1%. Importantly, all patients achieved complete mesorectal excision with tumour-free margins, and no mortalities were reported. CONCLUSION: TTSS emerges as a promising alternative for patients with middle and lower rectal tumours, offering potential benefits in terms of morbidity reduction and oncological integrity compared with other techniques.


Assuntos
Canal Anal , Anastomose Cirúrgica , Neoplasias Retais , Grampeamento Cirúrgico , Humanos , Masculino , Feminino , Anastomose Cirúrgica/métodos , Pessoa de Meia-Idade , Idoso , Neoplasias Retais/cirurgia , Canal Anal/cirurgia , Grampeamento Cirúrgico/métodos , Resultado do Tratamento , Reto/cirurgia , Laparoscopia/métodos , Fístula Anastomótica/etiologia , Fístula Anastomótica/prevenção & controle , Adulto , Idoso de 80 Anos ou mais
10.
Biomed Environ Sci ; 37(5): 503-510, 2024 May 20.
Artigo em Inglês | MEDLINE | ID: mdl-38843923

RESUMO

Objective: VATER/VACTERL-like association is associated with adverse pregnancy outcomes. Genetic evidence of this disorder is sporadic. In this study, we aimed to provide genetic insights to improve the diagnosis of VACTERL. Methods: We have described a Chinese family in which four members were affected by renal defects or agenesis, anal atresia, and anovaginal fistula, which is consistent with the diagnosis of a VACTERL-like association. Pedigree and genetic analyses were conducted using genome and exome sequencing. Results: Segregation analysis revealed the presence of a recessive X-linked microdeletion in two living affected individuals, harboring a 196-380 kb microdeletion on Xq27.1, which was identified by familial exome sequencing. Genome sequencing was performed on the affected male, confirming a -196 kb microdeletion in Xq27.1, which included a 28% loss of the CDR-1 gene. Four family members were included in the co-segregation analysis, and only VACTERL-like cases with microdeletions were reported in X27.1. Conclusion: These results suggest that the 196-380 kb microdeletion in Xq27.1 could be a possible cause of the VATER/VACTERL-like association. However, further genetic and functional analyses are required to confirm or rule out genetic background as the definitive cause of the VACTERL association.


Assuntos
Canal Anal , Cromossomos Humanos X , Linhagem , Adulto , Feminino , Humanos , Masculino , Canal Anal/anormalidades , China , Deleção Cromossômica , Cromossomos Humanos X/genética , População do Leste Asiático/genética , Esôfago/anormalidades , Cardiopatias Congênitas , Rim/anormalidades , Deformidades Congênitas dos Membros/genética , Coluna Vertebral/anormalidades , Traqueia/anormalidades
11.
BJS Open ; 8(3)2024 May 08.
Artigo em Inglês | MEDLINE | ID: mdl-38843378

RESUMO

BACKGROUND: The ligation of intersphincteric fistula tract is a surgical technique designed to treat trans-sphincteric anal fistulas aiming to preserve sphincter integrity. Recent studies suggest its efficacy in short-term fistula healing with limited impact on continence. However, comprehensive prospective data on long-term outcomes, including recurrence and bowel continence, are limited. The present study aims to report on the long-term functional outcomes. METHODS: Patients who underwent the ligation of intersphincteric fistula tract procedure for trans-sphincteric cryptoglandular anal fistulas between July 2012 and October 2018 at two Dutch referral centres were retrospectively reviewed. The primary outcome of interest was the long-term bowel continence after the ligation of intersphincteric fistula tract procedure, using the faecal incontinence severity index. Short-term data (collected in 2018) and long-term data (collected in 2023) on bowel continence, healing rates and recurrences were obtained through electronic records and Rockwood questionnaires. Sankey diagrams were used to visually represent individual variations in continence status (preoperative versus follow-up). RESULTS: Among 110 patients included (50% female, median follow-up 92 months), 101 patients (92%) were treated with previous surgeries (median 2, range 0-6) and 80% had previous seton drainage. Preligation of intersphincteric fistula tract, 16% of the patients reported incontinence (mean(s.d.) faecal incontinence severity index: 2.4(7.5), increasing to 18% after ligation of intersphincteric fistula tract at short-term follow-up, including 11% newly induced cases. Long-term follow-up collected using Rockwood questionnaires (63% response rate) in 69 patients uncovered a 74% incontinency rate (mean(s.d.) faecal incontinence severity index: 9.22(9.5). In those patients without subsequent surgery 49% (17 of 35) reported incontinence at long-term follow-up. Primary fistula healing after ligation of intersphincteric fistula tract was 28%. Preoperative seton drainage significantly improved healing rates (33% versus 9%). Notably, 43% (34 of 79) of unhealed fistulas transitioned into intersphincteric tracts; in these patients, 19 were treated with subsequent fistulotomy achieving cure in 18 cases. CONCLUSIONS: Ligation of intersphincteric fistula tract healing rates fell below recent literature standards. Although the immediate impact on postoperative continence appears minimal, long-term incontinence rates are concerning. In recognizing the deterioration of individual continence, we advocate for a patient-centered approach and urge fellow researchers and clinicians to collect comprehensive prospective continence data.


Assuntos
Canal Anal , Incontinência Fecal , Fístula Retal , Humanos , Fístula Retal/cirurgia , Feminino , Masculino , Ligadura/métodos , Incontinência Fecal/etiologia , Incontinência Fecal/cirurgia , Pessoa de Meia-Idade , Estudos Retrospectivos , Canal Anal/cirurgia , Adulto , Resultado do Tratamento , Recidiva , Idoso
12.
Neurogastroenterol Motil ; 36(7): e14810, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38689439

RESUMO

BACKGROUND: Disruption of external anal sphincter muscle (EAS) is an important factor in the multifactorial etiology of fecal incontinence (FI). OBJECTIVES: We categorize FI patients into four groups based on the location of lesion in neuromuscular circuitry of EAS to determine if there are differences with regards to fecal incontinence symptoms severity (FISI) score, age, BMI, obstetrical history, and anal sphincter muscle damage. METHODS: Female patients (151) without any neurological symptoms, who had undergone high-resolution manometry, anal sphincter EMG, and 3D ultrasound imaging of the anal sphincter were assessed. Patients were categorized into four groups: Group 1 (normal)-normal cough EMG (>10 µV), normal squeeze EMG (>10 µV), and normal anal squeeze pressure (>124 mmHg); Group 2 (cortical apraxia, i.e., poor cortical activation)-normal cough EMG, low squeeze EMG, and low anal squeeze pressure; Group 3 (muscle damage)-normal cough EMG, normal squeeze EMG, and low anal squeeze pressure; and Group 4 (pudendal nerve damage)-low cough EMG, low squeeze EMG, and low anal squeeze pressure. RESULTS: The four patient groups were not different with regards to the patient's age, BMI, parity, and FISI scores. 3D ultrasound images of the anal sphincter complex revealed significant damage to the internal anal sphincter, external anal sphincter, and puborectalis muscles in all four groups. CONCLUSION: The FI patients are a heterogeneous group; majority of these patients have significant damage to the muscles of the anal sphincter complex. Whether biofeedback therapy response is different among different patient groups requires study.


Assuntos
Canal Anal , Eletromiografia , Incontinência Fecal , Manometria , Humanos , Canal Anal/fisiopatologia , Canal Anal/diagnóstico por imagem , Feminino , Eletromiografia/métodos , Incontinência Fecal/fisiopatologia , Pessoa de Meia-Idade , Manometria/métodos , Adulto , Idoso , Pressão , Ultrassonografia
13.
Eur J Med Genet ; 69: 104948, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38735569

RESUMO

Anorectal malformations (ARMs) represent a wide spectrum of congenital anomalies of the anus and rectum, of which more than half are syndromic. Their etiology is highly heterogeneous and still poorly understood. We report a 4-year-old girl who initially presented with an isolated ARM, and subsequently developed a global developmental delay as part of an ARID1B-related Coffin-Siris syndrome (CSS). A co-occurrence of ARMs and CSS in an individual by chance is unexpected since both diseases are very rare. A review of the literature enabled us to identify 10 other individuals with both CSS and ARMs. Among the ten individuals reported in this study, 8 had a variant in ARID1A, 2 in ARID1B, and 1 in SMARCA4. This more frequent than expected association between CSS and ARM indicates that some ARMs are most likely part of the CSS spectrum, especially for ARID1A-related CSS.


Assuntos
Anormalidades Múltiplas , Malformações Anorretais , Proteínas de Ligação a DNA , Face , Deformidades Congênitas da Mão , Deficiência Intelectual , Micrognatismo , Pescoço , Fatores de Transcrição , Humanos , Feminino , Micrognatismo/genética , Micrognatismo/patologia , Pré-Escolar , Deficiência Intelectual/genética , Deficiência Intelectual/patologia , Fatores de Transcrição/genética , Pescoço/anormalidades , Pescoço/patologia , Deformidades Congênitas da Mão/genética , Deformidades Congênitas da Mão/patologia , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/patologia , Proteínas de Ligação a DNA/genética , Malformações Anorretais/genética , Face/anormalidades , Face/patologia , DNA Helicases/genética , Proteínas Nucleares/genética , Canal Anal/anormalidades , Canal Anal/patologia , Fenótipo
14.
J Craniofac Surg ; 35(4): e399-e401, 2024 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-38722317

RESUMO

VACTERL association is diagnosed based on the non-random co-occurrence of at least 3 out of 6 congenital malformations. The prevalence is thought to be less than 1 in 10,000 to 1 in 40,000. There is no known link between VACTERL association and metopic synostosis in the literature. There were 122 operated cases of metopic synostosis at our institution from 1999 to 2023, with a 2.3:1 male-to-female ratio. The authors describe the co-occurrence of VACTERL association and metopic synostosis in 3 female patients with no identifiable genetic variants. Given that VACTERL association is a diagnosis of exclusion, other rare syndromes were considered but ultimately excluded. This suggests that the co-occurrence of VACTERL association and metopic synostosis is a potentially rare finding, and underlying pathogenic variants are yet to be identified.


Assuntos
Canal Anal , Craniossinostoses , Esôfago , Cardiopatias Congênitas , Deformidades Congênitas dos Membros , Traqueia , Humanos , Feminino , Craniossinostoses/genética , Craniossinostoses/cirurgia , Craniossinostoses/complicações , Deformidades Congênitas dos Membros/genética , Traqueia/anormalidades , Traqueia/cirurgia , Cardiopatias Congênitas/cirurgia , Canal Anal/anormalidades , Canal Anal/cirurgia , Lactente , Esôfago/anormalidades , Esôfago/cirurgia , Coluna Vertebral/anormalidades , Masculino , Rim/anormalidades
15.
World J Gastroenterol ; 30(17): 2332-2342, 2024 May 07.
Artigo em Inglês | MEDLINE | ID: mdl-38813050

RESUMO

BACKGROUND: Hemorrhoidal artery embolization (Emborrhoid) is a novel method for the treatment of severe hemorrhoidal bleeding. Despite having a technical success rate of 93%-100%, the clinical success ranges between 63% and 94%, with a rebleeding rate of 13.6%. AIM: To evaluate the effectiveness of this procedure in reducing hemorrhoidal flow and hemorrhoidal bleeding. METHODS: This prospective observational pilot study was conducted at Division of General Surgery 1 and Tertiary Referral Pelvic Floor Center, Treviso Regional Hospital, Italy. In a 2 months period (February-March 2022), consecutive patients with hemorrhoidal bleeding scores (HBSs) ≥ 4, Goligher scores of II or III, failure of non-operative management, and a candidate for Emborrhoid were included. Endoanal ultrasound with eco-Doppler was performed preoperatively and 1 month after the procedure. The primary endpoint was to quantify the changes in arterial hemorrhoidal flow after treatment. The secondary endpoint was to evaluate the correlation between the flow changes and the HBS. RESULTS: Eleven patients underwent Emborrhoid. The overall pretreatment mean systolic peak (MSP) was 14.66 cm/s. The highest MSP values were found in the anterior left lateral (17.82 cm/s at 1 o'clock and 15.88 cm/s at 3 o'clock) and in the posterior right lateral (14.62 cm/s at 7 o'clock and 16.71 cm/s at 9 o'clock) quadrants of the anal canal. After treatment, the overall MSP values were significantly reduced (P = 0.008) although the correlation between MSP and HBS changes was weak (P = 0.570). A statistical difference was found between distal embolization compared with proximal embolization (P = 0.047). However, the coil landing zone was not related to symptoms improvement (P = 1.000). A significant difference in MSP changes was also reported between patients with type 1 and type 2 superior rectal artery (SRA) anatomy (P = 0.040). No relationship between hemorrhoidal grades (P = 1.000), SRA anatomy (P = 1.000) and treatment outcomes was found. CONCLUSION: The preliminary findings of this pilot study confirm that Emborrhoid was effective in reducing the arterial hemorrhoidal flow in hemorrhoidal disease. However, the correlation between the post-operative MSP and HBS changes was weak. Hemorrhoidal grade, SRA anatomy and type of embolization were not related to treatment outcomes.


Assuntos
Canal Anal , Embolização Terapêutica , Hemorroidas , Ultrassonografia Doppler , Humanos , Embolização Terapêutica/métodos , Embolização Terapêutica/efeitos adversos , Hemorroidas/terapia , Hemorroidas/diagnóstico por imagem , Hemorroidas/cirurgia , Projetos Piloto , Feminino , Masculino , Estudos Prospectivos , Pessoa de Meia-Idade , Resultado do Tratamento , Adulto , Idoso , Canal Anal/irrigação sanguínea , Canal Anal/diagnóstico por imagem , Artérias/diagnóstico por imagem , Endossonografia/métodos , Hemorragia Gastrointestinal/terapia , Hemorragia Gastrointestinal/etiologia , Hemorragia Gastrointestinal/diagnóstico por imagem , Recidiva
16.
Int J Colorectal Dis ; 39(1): 71, 2024 May 09.
Artigo em Inglês | MEDLINE | ID: mdl-38724801

RESUMO

INTRODUCTION: Robotic transanal minimally invasive surgery (R-TAMIS) was introduced in 2012 for the excision of benign rectal polyps and low grade rectal cancer. Ergonomic improvements over traditional laparoscopic TAMIS (L-TAMIS) include increased dexterity within a small operative field, with possibility of better surgical precision. We aim to collate the existing data surrounding the use of R-TAMIS to treat rectal neoplasms from cohort studies and larger case series, providing a foundation for future, large-scale, comparative studies. METHODS: Medline, EMBASE and Web of Science were searched as part of our review. Randomised controlled trials (RCTs), cohort studies or large case series (≥ 5 patients) investigating the use of R-TAMIS to resect rectal neoplasia (benign or malignant) were eligible for inclusion in our analysis. Quality assessment of included studies was performed via the Newcastle Ottawa Scale (NOS) risk of bias tool. Outcomes extracted included basic participant characteristics, operative details and histopathological/oncological outcomes. RESULTS: Eighteen studies on 317 participants were included in our analysis. The quality of studies was generally satisfactory. Overall complication rate from R-TAMIS was 9.7%. Clear margins (R0) were reported in 96.2% of patients. Local recurrence (benign or malignant) occurred in 2.2% of patients during the specified follow-up periods. CONCLUSION: Our review highlights the current evidence for R-TAMIS in the local excision of rectal lesions. While R-TAMIS appears to have complication, margin negativity and recurrence rates superior to those of published L-TAMIS series, comparative studies are needed.


Assuntos
Neoplasias Retais , Procedimentos Cirúrgicos Robóticos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Canal Anal/cirurgia , Margens de Excisão , Procedimentos Cirúrgicos Minimamente Invasivos/métodos , Recidiva Local de Neoplasia/cirurgia , Complicações Pós-Operatórias/etiologia , Neoplasias Retais/cirurgia , Neoplasias Retais/patologia , Procedimentos Cirúrgicos Robóticos/métodos , Procedimentos Cirúrgicos Robóticos/efeitos adversos , Cirurgia Endoscópica Transanal/métodos , Resultado do Tratamento
17.
Chirurgia (Bucur) ; 119(2): 125-135, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38743827

RESUMO

In this editorial, the authors bring to the attention of surgeons a personal point of view with the intention of offering a series of anatomical arguments to explain the high rate of functional complications following ultralow rectal resections, resections dominated by faecal incontinence of various intensities. Having as a starting point the anatomy of the pelvic floor and the posterior perineum, the authors are concerned with the functional outcomes of the sphincter-saving anterior rectal resection, regarding the low and ultralow resection. Technically, a conservative surgery for low rectal cancer has been currently performed. If 25 years ago the abdominoperineal resection was the gold standard for rectal cancer located under 7cm from the anal verge, nowadays the preservation of the anal canal as a partner for colon anastomosis has been accomplished. Progressively, from a desire to preserve the normal passage of stool into the anal canal, as anatomically and physiologically as possible, the distal limit of resection was lowered to 2-4 cm from the anal verge and ultra-low anastomoses were created, within the anal sphincter complex. The stated goal: keep the oncological safety standard and, at the same time, avoid definitive colostomy. Starting from the normal anatomy of the pelvic floor and the anorectal segment, the authors take a look at the alterations of the visceral, muscular, and nerve structures as a consequence of the low anterior resection and, particularly, the ultralow anterior resection. A significant degree of functional outcomes regarding defecation, with the onset of marked disabilities of anal continence, the major consequence being anal incontinence (30-70%), have been noticed. The authors go under review for the main anatomical and physiological changes that accompany anterior rectal resection. Conclusions: Thus, the following questions arise: what is the lower limit of resection to avoid total fecal incontinence? Is total incontinence a greater handicap than colostomy or is it not? The answers cannot be supported by solid arguments at this time, but the need to initiate future studies dedicated to this problem emerges.


Assuntos
Canal Anal , Incontinência Fecal , Diafragma da Pelve , Protectomia , Neoplasias Retais , Humanos , Incontinência Fecal/etiologia , Neoplasias Retais/cirurgia , Neoplasias Retais/patologia , Protectomia/métodos , Protectomia/efeitos adversos , Canal Anal/cirurgia , Resultado do Tratamento , Síndrome , Diafragma da Pelve/cirurgia , Anastomose Cirúrgica/métodos , Períneo/cirurgia , Reto/cirurgia , Fatores de Risco , Síndrome de Ressecção Anterior Baixa
18.
Br J Community Nurs ; 29(Sup5): S29-S32, 2024 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-38728165

RESUMO

Conor Hamilton examines the key components healthcare practitioners should consider when using transanal irrigation.


Assuntos
Canal Anal , Irrigação Terapêutica , Humanos , Irrigação Terapêutica/enfermagem
19.
World J Gastroenterol ; 30(18): 2418-2439, 2024 May 14.
Artigo em Inglês | MEDLINE | ID: mdl-38764764

RESUMO

BACKGROUND: Colorectal surgeons are well aware that performing surgery for rectal cancer becomes more challenging in obese patients with narrow and deep pelvic cavities. Therefore, it is essential for colorectal surgeons to have a comprehensive understanding of pelvic structure prior to surgery and anticipate potential surgical difficulties. AIM: To evaluate predictive parameters for technical challenges encountered during laparoscopic radical sphincter-preserving surgery for rectal cancer. METHODS: We retrospectively gathered data from 162 consecutive patients who underwent laparoscopic radical sphincter-preserving surgery for rectal cancer. Three-dimensional reconstruction of pelvic bone and soft tissue parameters was conducted using computed tomography (CT) scans. Operative difficulty was categorized as either high or low, and multivariate logistic regression analysis was employed to identify predictors of operative difficulty, ultimately creating a nomogram. RESULTS: Out of 162 patients, 21 (13.0%) were classified in the high surgical difficulty group, while 141 (87.0%) were in the low surgical difficulty group. Multivariate logistic regression analysis showed that the surgical approach using laparoscopic intersphincteric dissection, intraoperative preventive ostomy, and the sacrococcygeal distance were independent risk factors for highly difficult laparoscopic radical sphincter-sparing surgery for rectal cancer (P < 0.05). Conversely, the anterior-posterior diameter of pelvic inlet/sacrococcygeal distance was identified as a protective factor (P < 0.05). A nomogram was subsequently constructed, demonstrating good predictive accuracy (C-index = 0.834). CONCLUSION: The surgical approach, intraoperative preventive ostomy, the sacrococcygeal distance, and the anterior-posterior diameter of pelvic inlet/sacrococcygeal distance could help to predict the difficulty of laparoscopic radical sphincter-preserving surgery.


Assuntos
Canal Anal , Laparoscopia , Nomogramas , Neoplasias Retais , Humanos , Laparoscopia/métodos , Laparoscopia/efeitos adversos , Neoplasias Retais/cirurgia , Neoplasias Retais/diagnóstico por imagem , Neoplasias Retais/patologia , Feminino , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Idoso , Canal Anal/cirurgia , Canal Anal/diagnóstico por imagem , Tomografia Computadorizada por Raios X , Fatores de Risco , Tratamentos com Preservação do Órgão/métodos , Tratamentos com Preservação do Órgão/efeitos adversos , Adulto , Pelve/cirurgia , Pelve/diagnóstico por imagem , Imageamento Tridimensional , Resultado do Tratamento , Idoso de 80 Anos ou mais , Protectomia/métodos , Protectomia/efeitos adversos , Modelos Logísticos
20.
Pediatr Surg Int ; 40(1): 138, 2024 May 25.
Artigo em Inglês | MEDLINE | ID: mdl-38796646

RESUMO

PURPOSE: To describe the long-term bowel function of anorectal malformation (ARM) patients and explore the potential influence factors. METHODS: ARM patients with follow-up data > 10 years were included. Cases of cloaca, Currarino syndrome, and VACTERL syndrome were excluded. Rintala score and PedsQL 4.0 were used to assess bowel function score (BFS) and quality of life (QoL). Based on the results, patients were divided into satisfactory group with BFS ≥ 17 and unsatisfactory group with it < 17. Comparisons between the groups were made. RESULTS: Among the 81 patients were 44 males and 37 females. Follow-up time was 138 (126,151) months. 16 (19.75%) patients had associated anomalies. 23 (28.40%) patients had reoperations, and fistula recurrence was the most common reason. BFS of the patients was 20 (18,20). QoL score was 100 (100,100), which correlated positively with BFS (r = 0.648, P < 0.001). The satisfactory and the unsatisfactory groups had 69 and 12 cases, and their BFS were 20 (20,20) and 11 (8,15) respectively, which had statistical difference (P < 0.001). Total QoL score and psycho-social health score of the unsatisfactory group were lower (P < 0.001). Only reoperations were statistically different between the groups (P < 0.001). CONCLUSIONS: Long-term (> 10 years) bowel function of ARM patients is good in this study. Defecation problems have negative impacts on QoL and mainly affects their psycho-social health. Primary anorectoplasty is extremely important. Reoperations, which are most commonly seen in recto-urethral fistula recurrence, adversely affect the outcome.


Assuntos
Malformações Anorretais , Qualidade de Vida , Humanos , Masculino , Feminino , Estudos Retrospectivos , Malformações Anorretais/cirurgia , Malformações Anorretais/complicações , Seguimentos , Criança , Pré-Escolar , Canal Anal/anormalidades , Canal Anal/cirurgia , Adolescente , Lactente , Reto/anormalidades , Reto/cirurgia
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