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1.
BJS Open ; 8(3)2024 May 08.
Artigo em Inglês | MEDLINE | ID: mdl-38898709

RESUMO

BACKGROUND: Umbilical hernias, while frequently asymptomatic, may become acutely symptomatic, strangulated or obstructed, and require emergency treatment. Robust evidence is required for high-quality care in this field. This scoping review aims to elucidate evidence gaps regarding emergency care of umbilical hernias. METHODS: EMBASE, MEDLINE and CENTRAL databases were searched using a predefined strategy until November 2023. Primary research studies reporting on any aspect of emergency umbilical hernia care and published in the English language were eligible for inclusion. Studies were excluded where emergency umbilical hernia care was not the primary focus and subsets of relevant data were unable to be extracted. Two independent reviewers screened abstracts and full texts, resolving disagreements by consensus or a third reviewer. Data were charted according to core concepts addressed by each study and a narrative synthesis was performed. RESULTS: Searches generated 534 abstracts, from which 32 full texts were assessed and 14 included in the final review. This encompassed 52 042 patients undergoing emergency umbilical hernia care. Most were retrospective cohort designs (11/14), split between single (6/14) and multicentre (8/14) with only one randomized trial. Most multicentre studies were from national databases (7/8). Themes arising included risk assessment (n = 4), timing of surgery (n = 4), investigations (n = 1), repair method (n = 8, four mesh versus suture; four laparoscopic versus open) and operative outcomes (n = 11). The most commonly reported outcomes were mortality (n = 9) and morbidity (n = 7) rates and length of hospital stay (n = 5). No studies included patient-reported outcomes specific to emergency umbilical hernia repair. CONCLUSION: This scoping review demonstrates the paucity of high-quality data for this condition. There is a need for randomized trials addressing all aspects of emergency umbilical hernia repair, with patient-reported outcomes.


Assuntos
Hérnia Umbilical , Humanos , Hérnia Umbilical/cirurgia , Herniorrafia/métodos , Emergências
2.
Arq Bras Cir Dig ; 37: e1807, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38896702

RESUMO

BACKGROUND: Umbilical and epigastric hernias are among the most common hernias of the abdominal wall; however, there is a lack of standardization for their treatment. AIMS: To clarify the controversies regarding therapeutic possibilities, indications, and surgical techniques for umbilical and epigastric hernia repair. METHODS: A systematic review and qualitative analysis of randomized clinical trials published in the last 20 years, involving adults (aged 18 years and over) with umbilical and/or epigastric hernias, was performed by systematically searching the PubMed/Medline, Cochrane, SciELO, and LILACS databases. The risk of bias in individual studies was assessed using the Cochrane Risk of Bias Tool. RESULTS: Initially, 492 studies were selected and, subsequently, 15 randomized controlled clinical trials were chosen that met the inclusion criteria and underwent full reading and qualitative analysis, considering possible bias. CONCLUSIONS: This review concluded that it is evident the superiority of the use of meshes in the repair of epigastric/primary umbilical hernias with a defect larger than 1 cm, even in certain emergency situations. However, suture repair is a good option for patients with a defect smaller than 1 cm. In the laparoscopic approach, recent evidence points towards possible superiority in fixation with fibrin sealant, and fascial defect closure is recommended. In addition, due to a scarcity of randomized controlled trials with low risk of bias, further studies are needed on types, positioning and fixation techniques, as well as the real role of video-assisted laparoscopic surgery in the correction of hernias, especially umbilical.


Assuntos
Hérnia Umbilical , Herniorrafia , Humanos , Herniorrafia/métodos , Hérnia Umbilical/cirurgia , Ensaios Clínicos Controlados Aleatórios como Assunto , Telas Cirúrgicas , Hérnia Abdominal/cirurgia
3.
Pediatr Surg Int ; 40(1): 136, 2024 May 23.
Artigo em Inglês | MEDLINE | ID: mdl-38780818

RESUMO

PURPOSE: This retrospective study aims to describe anatomical parameters of omphaloceles and to analyze their association with anatomical, genetic, or syndromic malformations. METHODS: Cases were selected from digital records of two university centers, a certified regional registry and personal records. Patients from 1998 to 2018 with omphalocele and live birth (LB), termination of pregnancy due to fetal anomaly (TOPFA) and fetal death (FD) were included. Cases born outside Western Switzerland and/or with upper or lower coelosomy were excluded. RESULTS: We analyzed 162 cases with the following distribution: 57 (35%) LB, 91 (56%) TOPFA and 14 (9%) FD. TOPFA was significantly more frequently performed in cases with non-isolated omphalocele, i.e., omphaloceles with associated major malformations (especially cardiovascular and genitourinary), genetic/chromosomal anomalies, or syndromes. For LB, associated anatomical malformations, genetic or chromosomal anomalies were not significantly associated with the size of the omphalocele or the liver involvement. CONCLUSIONS: The proportion of cases resulting in TOPFA was higher among fetuses with major malformations, genetic or chromosomal anomalies. Despite the large size of this cohort, and in contrary to previous publications, the size of the omphalocele and/or liver involvement does not allow for conclusions regarding the presence or number of associated malformations, genetic or chromosomal anomalies.


Assuntos
Hérnia Umbilical , Humanos , Hérnia Umbilical/genética , Estudos Retrospectivos , Feminino , Gravidez , Recém-Nascido , Anormalidades Múltiplas/genética , Síndrome , Masculino , Suíça/epidemiologia , Nascido Vivo/genética , Morte Fetal/etiologia , Sistema de Registros
4.
BMJ Case Rep ; 17(4)2024 Apr 08.
Artigo em Inglês | MEDLINE | ID: mdl-38589238

RESUMO

Few cases of spontaneous bowel evisceration (SBE) through umbilical hernias (UHs) in adult patients have been reported in the literature. Interestingly, the spontaneous rupture of the hernia sac is a rare complication usually seen in adult cirrhotic patients with persistent ascites or in patients with congenital wall defects. A man in his early 50s was admitted to our emergency department with SBE through a long-standing acquired UH. He was not clinically cirrhotic, although being HCV positive. Surgeons performed an urgent laparotomy with ileal resection, latero-lateral ileal anastomosis and direct hernioplasty without mesh. Given the rarity of this presentation, we reported it and reviewed the available literature on this subject. Elective hernioplasty is currently suggested to lower the risk of complications. Mesh placement should be preferred, but only if comorbidities and infectious risks do not contraindicate its use. In emergency situations, a direct hernia repair is preferred.


Assuntos
Hérnia Inguinal , Hérnia Umbilical , Humanos , Masculino , Ascite/complicações , Hérnia Inguinal/cirurgia , Hérnia Umbilical/complicações , Hérnia Umbilical/cirurgia , Intestino Delgado , Cirrose Hepática/complicações , Pessoa de Meia-Idade
8.
J Perinat Med ; 52(5): 552-555, 2024 Jun 25.
Artigo em Inglês | MEDLINE | ID: mdl-38613796

RESUMO

OBJECTIVES: Infants with anterior abdominal wall defects (AWD) can suffer from pulmonary complications. Our aims were to determine if the chest radiographic thoracic areas (CRTAs) on day one differed between infants with exomphalos or gastroschisis, whether this related to differing severity of outcomes and if they were lower than those of controls indicating abnormal antenatal lung growth. METHODS: A review of infants with exomphalos or gastroschisis born between January 2004 and January 2023 was conducted. The control group was term, newborn infants ventilated for poor respiratory drive at birth. Chest radiographs on day one were analysed and the highest CRTA in the first 24 h after birth for each infant included in the analysis. RESULTS: The 127 infants with gastroschisis had a lower gestational age and birthweight than the 62 exomphalos infants and 130 controls (all p<0.001) The CRTAs of the controls were greater than the CRTAs of the exomphalos and the gastroschisis infants (p = 0.001). The median CRTA corrected for birthweight was lower in the exomphalos infants [688, IQR 568-875 mm2/kg] than the gastroschisis infants [813, IQE 695-915 mm2/kg] No gastroschisis infant developed bronchopulmonary dysplasia (BPD). A CRTA of 1759 mm2 had a sensitivity of 81 % and specificity of 71 % in predicting BPD in infants with exomphalos. CONCLUSIONS: Infants with gastroschisis or exomphalos had lower CRTAs than controls suggesting both groups had abnormal antenatal lung development. The CRTA was lower in the exomphalos infants who also had worse respiratory outcomes, hence CRTA assessment may a useful prognostic aid.


Assuntos
Gastrosquise , Humanos , Recém-Nascido , Feminino , Gastrosquise/complicações , Gastrosquise/diagnóstico por imagem , Gastrosquise/diagnóstico , Masculino , Estudos Retrospectivos , Radiografia Torácica/métodos , Hérnia Umbilical/diagnóstico por imagem , Hérnia Umbilical/complicações , Parede Abdominal/diagnóstico por imagem , Parede Abdominal/anormalidades , Idade Gestacional , Estudos de Casos e Controles
9.
Obes Surg ; 34(5): 1990-1992, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38564175

RESUMO

BACKGROUND: ESG is a safe and effective technique in the obesity management, usually indicated in class I and II obesity. It is also an acceptable treatment in patients with class III obesity who have high surgical risk or refuse surgery. This procedure results in a significant weight loss and important improvement in metabolic comorbidities. Nevertheless, there are several procedure-related complications. Few cases of gastric perforation following ESG have been reported. We present a case of septic shock after ESG with preoperative diagnostic uncertainties. METHODS: We present the case of a 54-year-old male with a BMI of 43.6 kg/m2 who underwent ESG 7 days before in an external center. The patient came to the emergency department presenting abdominal pain, nausea, and vomiting since the day after the procedure. Physical examination revealed hemodynamic instability, altered level of consciousness, diffuse abdominal pain, and a painful umbilical lump due to a complicated umbilical hernia. Emergent surgery was decided after preoperative assessment. RESULTS: Intraoperative gastroscopy was performed, viewing a gastric ischemic ulcer covered with fibrin and a mucosal defect and suspecting a covered gastric perforation. Firstly, we performed an open approach to the complicated umbilical hernia. Subsequently, an exploratory laparoscopy was performed through the hernial ring, where a fibrin-covered area was evidenced in the anterior face of the gastric body, adhered to the round ligament by a transmural suture of the ESG. Additionally, multiple transmural sutures were observed adhered to the greater omentum and lesser sac and an intramural hematoma in the greater gastric curvature. No intra-abdominal free fluid was evidenced. A laparoscopic barbed suture of the area covered with fibrin was performed, after its release from the round ligament. The adhesions of the sutures and metallic material from the ESG were released. Finally, two abdominal drains were placed in the anterior and posterior gastric face. The patient presented superficial incisional surgical site infection and was discharged 6 days after laparoscopic surgery. CONCLUSIONS: ESG is a novel procedure, which has proven to be an effective alternative in the treatment of obesity. However, this technique may have major complications that can require urgent surgery.


Assuntos
Gastroplastia , Hérnia Umbilical , Laparoscopia , Obesidade Mórbida , Choque Séptico , Humanos , Masculino , Pessoa de Meia-Idade , Dor Abdominal/etiologia , Fibrina , Gastroplastia/efeitos adversos , Gastroplastia/métodos , Hérnia Umbilical/etiologia , Hérnia Umbilical/cirurgia , Laparoscopia/efeitos adversos , Laparoscopia/métodos , Obesidade/cirurgia , Obesidade Mórbida/cirurgia , Choque Séptico/etiologia , Choque Séptico/cirurgia , Resultado do Tratamento
11.
Am J Med Genet A ; 194(7): e63582, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38450833

RESUMO

We present three new and six published infants with overlapping features of LUMBAR syndrome (lower body hemangioma, urogenital anomalies, spinal cord malformations, bony deformities, anorectal/arterial anomalies and renal anomalies) and OEIS complex (omphalocele, exstrophy, imperforate anus, and spinal defects), also known as cloacal exstrophy. OEIS is included under the recently proposed umbrella coined recurrent constellations of embryonic malformations (RCEMs). The RCEMs represent a phenotypically overlapping spectrum of rare disorders of caudal dysgenesis with unknown cause but likely shared pathogenesis. It has recently been proposed that LUMBAR be considered an RCEM. This report of infants with combined features of OEIS and LUMBAR is the first to demonstrate an overlap between LUMBAR and another RCEM, which supports LUMBAR's inclusion within the RCEM spectrum.


Assuntos
Anormalidades Múltiplas , Anus Imperfurado , Humanos , Anus Imperfurado/genética , Anus Imperfurado/patologia , Anus Imperfurado/diagnóstico , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/patologia , Anormalidades Múltiplas/diagnóstico , Feminino , Masculino , Recém-Nascido , Anormalidades Urogenitais/genética , Anormalidades Urogenitais/diagnóstico , Anormalidades Urogenitais/patologia , Hérnia Umbilical/diagnóstico , Hérnia Umbilical/patologia , Lactente , Síndrome , Cloaca/anormalidades , Cloaca/patologia , Hemangioma/patologia , Hemangioma/diagnóstico , Hemangioma/genética , Fenótipo , Coluna Vertebral/anormalidades , Coluna Vertebral/patologia , Coluna Vertebral/diagnóstico por imagem , Escoliose
12.
Ir J Med Sci ; 193(3): 1453-1459, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38376641

RESUMO

INTRODUCTION: Exomphalos anomaly is defined as the herniation of abdominal viscera into the base of the umbilical cord, with only a membranous sac covering these contents. It has an incidence of approximately 1 in 4000-6000 births. Management of exomphalos major (EM) remains controversial and limited, with very few studies to guide decision-making. METHOD: This is a case series of four neonates with EM treated at a tertiary paediatric referral centre between 2018 and 2021 with a gradual compression dressing technique. RESULTS: Four neonates were diagnosed with EM. The average gestational age was 38 + 5 (range 38 + 2 - 39 + 2), and the average birth weight was 3.1 kg (range 2.56 - 3.49 kg). The defect size ranged between 5 and 7 cm. All patients were commenced on gradual compression dressing between days 1 and 3 of life. Dressings were applied at the bedside in the general neonatal ward. The average time taken to reach full feeds was 1 week; only one patient required parenteral nutrition. Three underwent surgical repair at two and 16 weeks of age; one had delayed repair at the age of 1 year because of the COVID-19 pandemic. None required patch repair. None required prolonged ventilation after repair. CONCLUSION: This case series describes a successful compression dressing technique that reduces sac content without the need for general anaesthetic or respiratory compromise, whereby simultaneous enteral feeding is tolerated.


Assuntos
Bandagens Compressivas , Nutrição Enteral , Hérnia Umbilical , Humanos , Recém-Nascido , Nutrição Enteral/métodos , Masculino , Feminino , Hérnia Umbilical/cirurgia , COVID-19
13.
J Pediatr Surg ; 59(5): 791-799, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38418272

RESUMO

BACKGROUND: Umbilical hernia (UH) is a common pediatric condition, for which delaying surgical repair for asymptomatic UH until after age 3 is recommended due to a high incidence of spontaneous closure. We aimed to determine the adherence to guidelines, rate of urgent surgical repair, outcomes, cost, and interinstitutional referral patterns of UH repair in the province of Quebec (Canada). METHODS: This was a population-based retrospective cohort study of children 28 days to 17 years old who underwent UH repair between 2010 and 2020 using health administrative databases. Children who had multiple procedures, or prolonged peri-operative stays were excluded. Early repair was defined as elective surgery at or under age 3. RESULTS: Of the 3215 children, 1744 (54.2%) were female, and 1872 (58.2%) were treated in a tertiary children's hospital. Guidelines were respected for 2853 out of 3215 children (89.7%). Patients living over 75 km from their treating hospitals (OR 2.36, 95% CI 1.33-4.16, P < 0.01), with pre-existing comorbidities (OR, 2.82; 95% CI, 1.96-4.05; P < 0.001), or being treated in a tertiary center (OR 2.10, 95% CI 1.45-3.03, P < 0.001) had a higher risk of early repair. Repair at or under age 3 and urgent surgery were associated with significant cost increases of 411$ (P < 0.001) and 558$ (P < 0.001), respectively. CONCLUSION: Quebec has a high rate of adherence to age-specific guidelines for UH repair. Future research should explore factors that explain transfers into tertiary centers, and the extent to which these reflect efficient use of resources. LEVEL OF EVIDENCE: level III. TYPE OF STUDY: Retrospective comparative study.


Assuntos
Hérnia Umbilical , Criança , Humanos , Feminino , Pré-Escolar , Masculino , Estudos Retrospectivos , Hérnia Umbilical/cirurgia , Hérnia Umbilical/complicações , Herniorrafia/métodos , Comorbidade , Fatores Etários
14.
Pain Physician ; 27(2): E239-E244, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38324789

RESUMO

BACKGROUND: In recent years, the rectus sheath block (RSB) has become increasingly prevalent in laparoscopic surgery. However, there is currently no definitive research on its use in the open repair of umbilical hernias with cirrhotic ascites. OBJECTIVE: In this study, we assessed the safety and clinical efficacy of ultrasound-guided (US-guided) bilateral RSBs in open umbilical hernia repair for patients diagnosed with cirrhotic ascites. STUDY DESIGN: Seventy-two patients diagnosed with umbilical hernias that presented with cirrhotic ascites and who were admitted to our hospital were randomly divided into 2 groups. These categories were labeled the RSB group (Group R) and the local infiltration group (Group L); we used US-guided RSBs in Group R and local infiltration in Group L. SETTING: The clinical outcomes of the patients in each group were compared to one another. Heart rate (HR), systolic blood pressure (SBP), and diastolic blood pressure (DBP) were recorded at various time points in both groups. METHODS: Measurements of the patients' outcomes were taken before anesthesia (T0), at the beginning of surgery (T1), at the time of the separation of the hernia sac (T2), at the end of surgery (T3), 6 hours postoperatively (T4), and 24 hours postoperatively (T5). On the Visual Analog Scale (VAS), pain scores at rest (T1-T3) and during activity (T4-T5) were recorded, as were the incidence of perioperative remedial analgesia and adverse effects. RESULTS: Compared to T0, both groups' HR was significantly higher at T1-T3 (P < 0.05). The SBP and DBP were also significantly higher (P < 0.05). At T1-T3, the HR of Group R was significantly slower than that of Group L (P < 0.05), and at T4-T5, the VAS score for activity in Group R was significantly lower than that of Group L (P < 0.05). Group R had a significantly lower incidence of intraoperative remedial analgesia and postoperative nausea and vomiting than did Group L (P < 0.05). Neither group required postoperative remedial analgesia, and no patient experienced adverse reactions during the perioperative period. LIMITATIONS: This study has limitations in its sample size, lack of blood ammonia levels, and absence of data on patient satisfaction, necessitating future studies to address these issues. CONCLUSION: US-guided RSBs are an efficient method of anesthesia for open umbilical hernia repair in patients diagnosed with cirrhosis. This technique not only provides precise anesthesia and appropriate analgesia but also results in a low incidence of postoperative nausea and vomiting.


Assuntos
Hérnia Umbilical , Bloqueio Nervoso , Humanos , Hérnia Umbilical/cirurgia , Hérnia Umbilical/complicações , Dor Pós-Operatória/etiologia , Náusea e Vômito Pós-Operatórios , Ascite/complicações , Ascite/cirurgia , Ultrassonografia de Intervenção/métodos , Bloqueio Nervoso/métodos , Cirrose Hepática/complicações , Cirrose Hepática/cirurgia
15.
Sci Rep ; 14(1): 1800, 2024 01 20.
Artigo em Inglês | MEDLINE | ID: mdl-38245577

RESUMO

Our study aimed to assess the safety and effectiveness of the robotic-assisted extended totally extraperitoneal (eTEP) repair compared to transabdominal preperitoneal (eTAPP) repair with a suprapubic trocar insertion to treat umbilical and epigastric hernias. On a prospectively maintained database, we identified patients who underwent either eTEP or eTAPP for treating umbilical and epigastric hernias. During the study period, 53 patients were included, 32 in the eTEP group and 21 in the eTAPP group. The mean age was 59.0 ± 13.9 years, 45 patients (84.9%) were male, and the mean BMI was 28.0 ± 5.9 kg/m2. Most hernias were umbilical (81.1%) and primary (83.0%). The operative time for eTEP was slightly shorter than for eTAPP (106 ± 43 min vs. 126 ± 74 min, p = 0.232). Postoperatively, only one case of bleeding and one seroma were recorded. No complication occurred during a mean follow-up of 11.3 ± 6.4 months in the eTEP group and 20.5 ± 9.7 months in the eTAPP group. In conclusion, our study showed that the eTEP with suprapubic approach was safe and feasible in the treatment of epigastric and umbilical hernias. According to our experience, shorter operative time, integrity of the posterior layers and increased overlap size are the main surgical reasons of switching from eTAPP to eTEP.


Assuntos
Hérnia Abdominal , Hérnia Umbilical , Laparoscopia , Procedimentos Cirúrgicos Robóticos , Humanos , Masculino , Pessoa de Meia-Idade , Idoso , Feminino , Herniorrafia/efeitos adversos , Procedimentos Cirúrgicos Robóticos/efeitos adversos , Hérnia Abdominal/cirurgia , Hérnia Umbilical/cirurgia , Estudos Retrospectivos
16.
Hernia ; 28(1): 223-231, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37668820

RESUMO

PURPOSE: Enhanced recovery after surgery (ERAS) protocols lead to reduced post-operative stay and improved outcomes after most types of abdominal surgery. Little is known about the optimal post-operative protocol after robotic ventral hernia repair (RVHR), including the potential limits of outpatient surgery. We report the results of an ERAS protocol after RVHR aiming to identify factors associated with overnight stay in hospital, as well as patient-reported pain levels in the immediate post-operative period. METHODS: This was a prospective cohort study of consecutive patients undergoing RVHR. Patients were included in a prospective database, registering patient characteristics, operative details, pain and fatigue during the first 3 post-operative days and pre- and 30-day post-operative hernia-related quality of life, using the EuraHS questionnaire. RESULTS: A total of 109 patients were included, of which 66 (61%) underwent incisional hernia repair. The most performed procedure was TARUP (robotic transabdominal retromuscular umbilical prosthetic hernia repair) (60.6%) followed by bilateral roboTAR (robotic transversus abdominis release) (19.3%). The mean horizontal fascial defect was 4.8 cm, and the mean duration of surgery was 141 min. In total, 78 (71.6%) patients were discharged on the day of surgery, and factors associated with overnight stay were increasing fascial defect area, longer duration of surgery, and transverse abdominis release. There was no association between post-operative pain and overnight hospital stay. The mean EuraHS score decreased significantly from 38.4 to 6.4 (P < 0.001). CONCLUSION: An ERAS protocol after RVHR was associated with a high rate of outpatient procedures with low patient-reported pain levels.


Assuntos
Hérnia Umbilical , Hérnia Ventral , Hérnia Incisional , Laparoscopia , Procedimentos Cirúrgicos Robóticos , Humanos , Procedimentos Cirúrgicos Robóticos/efeitos adversos , Procedimentos Cirúrgicos Robóticos/métodos , Estudos Prospectivos , Herniorrafia/efeitos adversos , Herniorrafia/métodos , Qualidade de Vida , Hérnia Ventral/cirurgia , Hérnia Incisional/cirurgia , Hérnia Umbilical/cirurgia , Dor Pós-Operatória/etiologia , Dor Pós-Operatória/cirurgia , Hospitais , Estudos Retrospectivos , Telas Cirúrgicas , Laparoscopia/métodos
17.
Am J Med Genet A ; 194(4): e63501, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38082334

RESUMO

Bladder exstrophy epispadias complex (BEEC) encompasses a spectrum of conditions ranging from mild epispadias to the most severe form: omphalocele-bladder exstrophy-imperforate anus-spinal defects (OEIS). BEEC involves abnormalities related to anatomical structures that are proposed to have a similar underlying etiology and pathogenesis. In general, BEEC, is considered to arise from a sequence of events in embryonic development and is believed to be a multi-etiological disease with contributions from genetic and environmental factors. Several genes have been implicated and mouse models have been generated, including a knockout model of p63, which is involved in the synthesis of stratified epithelium. Mice lacking p63 have undifferentiated ventral urothelium. MNX1 has also been implicated. In addition, cigarette smoking, diazepam and clomid have been implied as environmental factors due to their relative association. By in large, the etiology and pathogenesis of human BEEC is unknown. We performed de novo analysis of whole exome sequencing (WES) of germline samples from 31 unrelated trios where the probands have a diagnosis of BEEC syndrome. We also evaluated the DECIPHER database to identify copy number variants (CNVs) in genes in individuals with the search terms "bladder exstrophy" in an attempt to identify additional candidate genes within these regions. Several de novo variants were identified; however, a candidate gene is still unclear. This data further supports the multi-etiological nature of BEEC.


Assuntos
Anus Imperfurado , Extrofia Vesical , Epispadia , Hérnia Umbilical , Escoliose , Anormalidades Urogenitais , Gravidez , Feminino , Humanos , Animais , Camundongos , Extrofia Vesical/genética , Extrofia Vesical/patologia , Epispadia/genética , Epispadia/patologia , Sequenciamento do Exoma , Bexiga Urinária/patologia , Fatores de Transcrição/genética , Proteínas de Homeodomínio/genética
18.
Hernia ; 28(1): 119-126, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37848581

RESUMO

PURPOSE: Patients with liver cirrhosis sometimes suffer from high recurrence rates and postoperative complications. We previously reported that platelet-related hematological parameters are associated with the outcomes after incisional herniorrhaphy, and aim to evaluate the predictive value of these criteria in cirrhotic patients undergoing open umbilical herniorrhaphy. METHODS: This is a retrospective study. The data of 95 cirrhotic patients undergoing open umbilical herniorrhaphy were analyzed. Patients were grouped based on the recurrence and defined hematological values. Platelet-multiple-lymphocyte index (PLM), neutrophil-leukocyte ratio, lymphocyte-monocyte ratio, platelet-neutrophil ratio, systemic immune-inflammation index, and aspartate aminotransferase-leukocyte ratio values were calculated based on preoperative blood analyses. The outcomes were obtained from hospital records and follow-up calls to patients. RESULTS: Using cutoff values acquired by the Youden Index, we found a PLM value < 27.9, and the history of inguinal herniorrhaphy were revealed to be statistically significant in the recurrence based on univariant and multivariant analyses (p < 0.05). We further divided patients into two groups based on the cutoff value of PLM and found that a PLM value < 27.9 was significantly associated with the recurrence of incisional hernias (p = 0.018) and the occurrence of postoperative foreign sensation (p = 0.044), and tended to result in other postoperative complications such as cardiopathy, respiratory infection, hypoproteinemia, and hepatic diseases (p = 0.089). CONCLUSION: The preoperative hematological values, especially PLM, may indicate the outcomes in cirrhotic patients after open umbilical herniorrhaphy. Accurate identification of risks may alert the intraoperative and postoperative care for patients.


Assuntos
Hérnia Umbilical , Humanos , Hérnia Umbilical/complicações , Hérnia Umbilical/cirurgia , Estudos Retrospectivos , Herniorrafia/efeitos adversos , Complicações Pós-Operatórias/epidemiologia , Cirrose Hepática/complicações , Cirrose Hepática/cirurgia
19.
Hernia ; 28(1): 109-117, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38017324

RESUMO

INTRODUCTION: Umbilical hernia is common in patients with cirrhosis; however, there is a paucity of dedicated studies on postoperative outcomes in this group of patients. This population-based cohort study aimed to determine the outcomes after emergency and elective umbilical hernia repair in patients with cirrhosis. METHODS: Two linked electronic healthcare databases from England were used to identify all patients undergoing umbilical hernia repair between January 2000 and December 2017. Patients were grouped into those with and without cirrhosis and stratified by severity into compensated and decompensated cirrhosis. Length of stay, readmission, 90-day case fatality rate and the odds ratio of 90-day postoperative mortality were defined using logistic regression. RESULTS: In total, 22,163 patients who underwent an umbilical hernia repair were included and 297 (1.34%) had cirrhosis. More patients without cirrhosis had an elective procedure, 86% compared with 51% of those with cirrhosis (P < 0.001). In both the elective and emergency settings, patients with cirrhosis had longer hospital length of stay (elective: 0 vs 1 day, emergency: 2 vs 4 days, P < 0.0001) and higher readmission rates (elective: 4.87% vs 11.33%, emergency:11.39% vs 29.25%, P < 0.0001) than those without cirrhosis. The 90-day case fatality rates were 2% and 0.16% in the elective setting, and 19% and 2.96% in the emergency setting in patients with and without cirrhosis respectively. CONCLUSION: Emergency umbilical hernia repair in patients with cirrhosis is associated with poorer outcomes in terms of length of stay, readmissions and mortality at 90 days.


Assuntos
Hérnia Umbilical , Humanos , Hérnia Umbilical/complicações , Hérnia Umbilical/cirurgia , Estudos de Coortes , Herniorrafia/métodos , Cirrose Hepática/complicações , Inglaterra/epidemiologia
20.
J Surg Res ; 295: 783-790, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38157730

RESUMO

INTRODUCTION: Our objective was to perform a feasibility study using real-world data from a learning health system (LHS) to describe current practice patterns of wound closure and explore differences in outcomes associated with the use of tissue adhesives and other methods of wound closure in the pediatric surgical population to inform a potentially large study. METHODS: A multi-institutional cross-sectional study was performed of a random sample of patients <18 y-old who underwent laparoscopic appendectomy, open or laparoscopic inguinal hernia repair, umbilical hernia repair, or repair of traumatic laceration from January 1, 2019, to December 31, 2019. Sociodemographic and operative characteristics were obtained from 6 PEDSnet (a national pediatric LHS) children's hospitals and OneFlorida Clinical Research Consortium (a PCORnet collaboration across 14 academic health systems). Additional clinical data elements were collected via chart review. RESULTS: Of the 692 patients included, 182 (26.3%) had appendectomies, 155 (22.4%) inguinal hernia repairs, 163 (23.6%) umbilical hernia repairs, and 192 (27.8%) traumatic lacerations. Of the 500 surgical incisions, sutures with tissue adhesives were the most frequently used (n = 211, 42.2%), followed by sutures with adhesive strips (n = 176, 35.2%), and sutures only (n = 72, 14.4%). Most traumatic lacerations were repaired with sutures only (n = 127, 64.5%). The overall wound-related complication rate was 3.0% and resumption of normal activities was recommended at a median of 14 d (interquartile ranges 14-14). CONCLUSIONS: The LHS represents an efficient tool to identify cohorts of pediatric surgical patients to perform comparative effectiveness research using real-world data to support medical and surgical products/devices in children.


Assuntos
Hérnia Inguinal , Hérnia Umbilical , Lacerações , Laparoscopia , Sistema de Aprendizagem em Saúde , Adesivos Teciduais , Humanos , Criança , Adesivos Teciduais/uso terapêutico , Lacerações/epidemiologia , Lacerações/cirurgia , Hérnia Inguinal/cirurgia , Estudos Transversais , Hérnia Umbilical/cirurgia , Suturas , Resultado do Tratamento , Laparoscopia/efeitos adversos , Laparoscopia/métodos , Herniorrafia/efeitos adversos , Herniorrafia/métodos
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