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1.
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
2.
J Pediatr Gastroenterol Nutr ; 76(3): e61-e65, 2023 03 01.
Artigo em Inglês | MEDLINE | ID: mdl-36302247

RESUMO

The nutritional requirements of neonates with congenital abdominal wall defects (AWDs) remain poorly described. In particular, there is a lack of literature on the calorie, protein, and micronutrient needs of those with AWD. Nutritional therapy is a cornerstone of care in patients with burns due to the metabolic consequences of injury to the epithelial layer. Similarly, children with AWD may require specialized nutritional plans to support their growth and wound healing. This case series supports the theory that patients with ruptured omphaloceles may require higher calorie, protein, and micronutrient provisions in comparison to patients with intact omphaloceles, due to increased metabolic demand to support wound healing and skin epithelialization.


Assuntos
Hérnia Umbilical , Terapia Nutricional , Humanos , Lactente , Recém-Nascido , Hérnia Umbilical/complicações , Hérnia Umbilical/cirurgia
3.
Prenat Diagn ; 43(12): 1514-1519, 2023 11.
Artigo em Inglês | MEDLINE | ID: mdl-37807606

RESUMO

OBJECTIVE: Giant omphaloceles (GO) have associated pulmonary hypoplasia and respiratory complications. Total lung volumes (TLV) on fetal MRI can prognosticate congenital diaphragmatic hernia outcomes; however, its applicability to GO is unknown. We hypothesize that late gestation TLV and observed-to-expected TLV (O/E TLV) on fetal MRI correlate with postnatal pulmonary morbidity in GO. METHOD: A single-institution retrospective review of GO evaluated between 2012 and 2022 was performed. Fetal MRI TLV between 32 and 36 weeks' gestation and O/E TLV throughout gestation were calculated and correlated with postnatal outcomes. RESULTS: 86 fetuses with omphaloceles were evaluated; however, only 26 met strict inclusion criteria. MRIs occurred between 18 and 36 weeks' gestation. Those requiring delivery room intubation had significantly lower late gestation TLV and O/E TLV. O/E TLV predicted tracheostomy placement and survival. Neither TLV nor O/E TLV predicted the length of hospitalization or supplemental oxygen after discharge. Three fetuses had a TLV less than 35 mL: one died of respiratory failure, and the other two required tracheostomy. CONCLUSIONS: Fetal MRI TLV measured between 32 and 36 weeks' gestation and O/E TLV predict the need for delivery room intubation and tracheostomy. O/E TLV correlated with survival. These data support fetal MRI as a prognostic tool to predict GO associated pulmonary morbidity.


Assuntos
Hérnia Umbilical , Hérnias Diafragmáticas Congênitas , Lactente , Feminino , Gravidez , Humanos , Hérnia Umbilical/complicações , Pulmão/diagnóstico por imagem , Medidas de Volume Pulmonar , Hérnias Diafragmáticas Congênitas/complicações , Hérnias Diafragmáticas Congênitas/diagnóstico por imagem , Feto , Estudos Retrospectivos , Imageamento por Ressonância Magnética , Morbidade
4.
Langenbecks Arch Surg ; 408(1): 246, 2023 Jun 26.
Artigo em Inglês | MEDLINE | ID: mdl-37358646

RESUMO

PURPOSE: Umbilical hernia repair (UHR) in cirrhotics with ascites is a challenging problem associated with increased morbidity and mortality. This study examines the outcomes of UHR in veterans, comparing those undergoing elective versus emergent repair. METHODS: VASQIP was queried for all UHRs during the period 2008-2015. Data collection included demographics, operative details, Model for End-stage Liver Disease (MELD) score, and postoperative outcomes. Univariate and multivariate regression analyses were performed, and a p value of ≤ 0.05 was considered significant. RESULTS: A total of 383 patients were included in the analysis. Overall, mean age was 58.9, 99.0% were males, mean body mass index (BMI) was 26.7 kg/m2, 98.2% had American Society of Anesthesiologists (ASA) classification ≥ III, and 87.7% had independent functional status. More than 1/3 the patients underwent emergent UHR (37.6%). Compared with the elective UHR group, who underwent emergent repair were older, more likely to be functionally dependent, higher MELD score. Hypoalbuminemia, emergency repair and MELD score were found to be independent predictors of poor outcomes. CONCLUSION: UHR in cirrhotic veterans has worse outcomes when performed emergently. Diagnosis should be followed by medical optimization and elective repair, rather than waiting for an emergent indication in > 1/3 of patients.


Assuntos
Doença Hepática Terminal , Hérnia Umbilical , Veteranos , Masculino , Humanos , Feminino , Hérnia Umbilical/complicações , Hérnia Umbilical/cirurgia , Resultado do Tratamento , Doença Hepática Terminal/complicações , Doença Hepática Terminal/cirurgia , Índice de Gravidade de Doença , Cirrose Hepática/complicações , Cirrose Hepática/cirurgia , Herniorrafia , Estudos Retrospectivos
5.
Am J Emerg Med ; 72: 223.e5-223.e6, 2023 10.
Artigo em Inglês | MEDLINE | ID: mdl-37517872

RESUMO

Umbilical hernias develop in approximately 20% of patients with liver cirrhosis and ascites. Flood Syndrome is an eponym describing the spontaneous rupture of these umbilical hernias due to the elevated intrabdominal pressure associated with large-volume ascites. Though rare, Flood Syndrome is associated with several life-threatening sequela including infection, organ failure, and hypovolemic shock, leading to mortality or transplant in over 30% of patients. The following case is a single patient encounter describing an 80-year-old female with long-standing ascites who presented to the Emergency Department shortly after experiencing a spontaneous extravasation of fluid from her umbilical hernia.


Assuntos
Ascite , Hérnia Umbilical , Humanos , Feminino , Idoso de 80 Anos ou mais , Ascite/diagnóstico , Ascite/etiologia , Ascite/terapia , Hérnia Umbilical/complicações , Inundações , Cirrose Hepática/complicações , Síndrome
6.
J Perinat Med ; 51(9): 1189-1196, 2023 Nov 27.
Artigo em Inglês | MEDLINE | ID: mdl-37531153

RESUMO

OBJECTIVES: To estimate factors affecting survival in prenatally diagnosed omphalocele, factors predicting genetic abnormalities, and association of omphalocele and specific groups of anomalies. METHODS: A retrospective observational study was performed, analyzing data of all omphalocele cases diagnosed prenatally in the perinatology clinic of a referral center. Demographic data, characteristics of the omphalocele (size, content, associated anomalies), results of genetic testing, pregnancy outcomes and postnatal outcomes were analyzed. RESULTS: Sixty-nine fetuses with omphalocele were included. The prevalence of omphalocele in livebirth was 0.007 %. Overall survival during the study period was 73.9 %. Twenty-eight (71.7 %) out of 39 cases with associated anomalies who were born live, survived, whereas survival was 85.7 % in the isolated cases. The most common anomaly associated with omphalocele were cardiac defects with 42 %; followed by placental or umbilical cord anomalies (28.9 %), skeletal defects (27.5), genitourinary anomalies (20.2 %), central nervous system (18.8 %) and facial anomalies (7.2 %), respectively. Eighty-five percent of the fetuses had at least one additional anomaly or ultrasound finding. Skeletal abnormalities and staged surgical repair of omphalocele were associated with survival. Associated skeletal anomalies and staged repair significantly increase the risk of postnatal death (OR: 4.6 95 % CI (1.1-19.5) and (OR: 10.3 95 % CI (1.6-63.9), respectively). CONCLUSIONS: Associated skeletal abnormalities and staged surgical repair are negatively associated with postnatal survival.


Assuntos
Hérnia Umbilical , Gravidez , Feminino , Humanos , Hérnia Umbilical/diagnóstico por imagem , Hérnia Umbilical/epidemiologia , Hérnia Umbilical/complicações , Placenta , Diagnóstico Pré-Natal , Resultado da Gravidez/epidemiologia , Ultrassonografia Pré-Natal , Estudos Retrospectivos
7.
Fetal Diagn Ther ; 50(4): 259-268, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37379809

RESUMO

INTRODUCTION: Abdominal wall defects (AWDs) interfere with postnatal respiratory parameters. We aimed to evaluate lung volume (LV) in fetuses with AWD using three-dimensional (3D) ultrasound (US) and to correlate AWD with the type (omphalocele and gastroschisis) and size of the defect and neonatal morbidity and mortality. METHODS: This prospective observational study included 72 pregnant women with fetuses with AWD and a gestational age <25 weeks. The data on abdominal volume, 3D US LV, and herniated volume were acquired every 4 weeks up to 33 weeks. LV was compared with normal reference curves and correlated with abdominal and herniated volumes. RESULTS: Omphalocele (p < 0.001) and gastroschisis (p < 0.001) fetuses had smaller LV than normal fetuses. LV was positively correlated with abdominal volume (omphalocele, r = 0.86; gastroschisis, r = 0.88), whereas LV was negatively correlated with omphalocele-herniated volume/abdominal volume (p < 0.001, r = -0.51). LV was smaller in omphalocele fetuses that died (p = 0.002), were intubated (p = 0.02), or had secondary closure (p < 0.001). In gastroschisis, a smaller LV was observed in fetuses discharged using oxygen (p = 0.002). CONCLUSION: Fetuses with AWD had smaller 3D LV than normal fetuses. Fetal abdominal volume was inversely correlated with LV. In omphalocele fetuses, a smaller LV was associated with neonatal mortality and morbidity.


Assuntos
Parede Abdominal , Anormalidades do Sistema Digestório , Gastrosquise , Hérnia Umbilical , Recém-Nascido , Gravidez , Humanos , Feminino , Lactente , Gastrosquise/diagnóstico por imagem , Gastrosquise/complicações , Hérnia Umbilical/complicações , Parede Abdominal/diagnóstico por imagem , Feto/diagnóstico por imagem
8.
Langenbecks Arch Surg ; 407(3): 1241-1249, 2022 May.
Artigo em Inglês | MEDLINE | ID: mdl-35066629

RESUMO

PURPOSE: Umbilical midline incisions for single incision- or reduced port laparoscopic surgery are still discussed controversially because of a higher rate of incisional hernia compared to conventional laparoscopic techniques. The aim of this study was to evaluate incidence and risk factors for incisional hernia after reduced port colorectal surgery. METHODS: A total 241 patients underwent elective reduced port colorectal surgery between 2014 and 2020. Follow-up was achieved through telephone interview or clinical examination. The study collective was examined using univariate and multivariate analysis. RESULTS: A total of 150 patients with complete follow-up were included into this study. Mean follow-up time was 36 (IQR 24-50) months. The study collective consists of 77 (51.3%) female and 73 (48.7%) male patients with an average BMI of 26 kg/m2 (IQR 23-28) and an average age of 61 (± 14). Indication for surgery was diverticulitis in 55 (36.6%) cases, colorectal cancer in 65 (43.3%) patients, and other benign reasons in 30 (20.0%) cases. An incisional hernia was observed 9 times (6.0%). Obesity (OR 5.8, 95% CI 1.5-23.1, p = 0.02) and pre-existent umbilical hernia (OR 161.0, 95% CI 23.1-1124.5, p < 0.01) were significant risk factors for incisional hernia in the univariate analysis. Furthermore, pre-existent hernia is shown to be a risk factor also in multivariate analysis. CONCLUSION: We could demonstrate that reduced port colorectal surgery using an umbilical single port access is feasible and safe with a low rate of incisional hernia. Obesity and pre-existing umbilical hernia are significant risk factors for incisional hernia.


Assuntos
Cirurgia Colorretal , Hérnia Umbilical , Hérnia Incisional , Laparoscopia , Feminino , Hérnia Umbilical/complicações , Hérnia Umbilical/epidemiologia , Hérnia Umbilical/cirurgia , Humanos , Incidência , Hérnia Incisional/epidemiologia , Hérnia Incisional/etiologia , Laparoscopia/efeitos adversos , Laparoscopia/métodos , Masculino , Pessoa de Meia-Idade , Obesidade/complicações , Obesidade/epidemiologia , Estudos Retrospectivos , Fatores de Risco
9.
BMC Pediatr ; 22(1): 680, 2022 11 26.
Artigo em Inglês | MEDLINE | ID: mdl-36435753

RESUMO

BACKGROUND: Omphalocele is a congenital abdominal wall defect of the umbilical cord insertion site. A giant omphalocele, with a fascial defect > 5 cm in diameter and/or containing > 50% of the liver within the hernia sac, can be challenging for pediatric surgeons. Recently, negative pressure wound therapy has been reported as an effective management for giant omphaloceles; however, it is not recommended for an infected wound with necrotic tissue as it may exacerbate infection. We adopted negative pressure wound therapy with irrigation and dwell time (NPWTi-d) for a case of a ruptured giant omphalocele. Artificial membranes, followed by artificial dermis, were used to promote fibrous capsule formation, and then NPWTi-d was used to promote granulation while controlling infection. However, studies have not been conducted regarding NPWTi-d for ruptured giant omphaloceles; hence, we present our treatment experience with NPWTi-d for a giant omphalocele. CASE PRESENTATION: The patient was a boy born at 38 weeks and 3 days of gestation, weighing 1896 g. He was diagnosed with a ruptured giant omphalocele with a total liver and intestine defect hole of 10 cm × 10 cm. The patient underwent silo placement using an artificial mesh, followed by plicating the artificial mesh at 4 days of age. The herniated viscera were gradually reduced into the abdominal cavity; however, the defect size was still large. Hence, a collagen-based artificial dermis was patched on the defect hole. After creating a fresh and smooth granulated tissue, NPWTi-d was applied at 33 days of age to promote granulation and control infection. We used the 3 M™ V.A.C.® Ulta Therapy Unit with 3 M™ VeraFlo™ therapy. NPWTi-d was stopped at 60 days of age when the granulation tissue was well formed including at the artificial dermis site. The wound was managed with prostandin ointment and appropriate debridement, resulting in complete epithelialization at 5 months of age. CONCLUSIONS: Artificial membranes followed by artificial dermis were used to promote a fibrous capsule and artificial dermis granulation, which protects against organ damage. NPWTi-d achieved better control of infection and promoted wound healing. NPWTi-d combined with artificial dermis can effectively treat ruptured giant omphaloceles.


Assuntos
Hérnia Umbilical , Tratamento de Ferimentos com Pressão Negativa , Masculino , Criança , Humanos , Tratamento de Ferimentos com Pressão Negativa/métodos , Hérnia Umbilical/complicações , Hérnia Umbilical/terapia , Hérnia Umbilical/diagnóstico , Cicatrização , Membranas Artificiais , Derme
10.
Br J Surg ; 108(10): 1189-1191, 2021 10 23.
Artigo em Inglês | MEDLINE | ID: mdl-34595502

RESUMO

BACKGROUND: The definition, classification and management of rectus diastasis (RD) are controversial in the literature and a variety of different surgical treatments have been described. This article reports on the European Hernia Society (EHS) Clinical Practice Guideline for RD. METHOD: The Guideline group consisted of eight surgeons. The Grading of Recommendation, Assessment, Development and Evaluation (GRADE) approach and the Appraisal of Guidelines for Research and Evaluation (AGREE) instrument were used. A systematic literature search was done in November 2018 and updated in November 2019 and October 2020. Nine Key Questions (KQs) were formulated. RESULTS: Literature reporting on the definition, classification, symptoms, outcomes and treatments was limited in quality, leading to weak recommendations for the majority of the KQs. The main recommendation is to define RD as a separation between rectus muscles wider than 2 cm. A new classification system is suggested based on the width of muscle separation, postpregnancy status and whether or not there is a concomitant hernia. Impaired body image and core instability appear to be the most relevant symptoms. Physiotherapy may be considered before surgical management. It is suggested to use linea alba plication in patients without concomitant hernia and a mesh-based repair of RD with concomitant midline hernias. CONCLUSION: RD should be defined as a separation of rectus muscles wider than 2 cm and a new classification system is suggested.


The management of RD is controversial. These guidelines are intended to provide a consensus about the exact definition, the correct way of measurement and diagnosis, a classification system, the main symptoms, and a systematic review of non-surgical and surgical treatments to achieve the best results for patients with this pathology. The main recommendation is to define RD as a separation between rectus muscles wider than 2 cm. A new classification system is proposed. It is suggested to use linea alba plication in patients without concomitant hernia and a mesh-based repair of RD in those with concomitant midline hernias.


Assuntos
Hérnia Ventral/diagnóstico , Hérnia Ventral/terapia , Hérnia Umbilical/complicações , Hérnia Ventral/classificação , Hérnia Ventral/complicações , Herniorrafia , Humanos , Modalidades de Fisioterapia , Cuidados Pós-Operatórios , Reto do Abdome/cirurgia , Telas Cirúrgicas
11.
Am J Med Genet A ; 185(7): 1954-1971, 2021 07.
Artigo em Inglês | MEDLINE | ID: mdl-33881198

RESUMO

The pathogenesis of omphalocele and gastroschisis is not obvious. Their etiology is disputed. The prevalence and the types of anomalies co-occurring with omphalocele and gastroschisis are variable in the different series published. The aim of this study was to estimate the frequency and the types of co-occurring anomalies in cases with gastroschisis and omphalocele. This study was performed in a well-described population of 387,067 consecutive births between 1979 and 2007. Hundred-one cases with omphalocele were registered (2.61 per 10,000), 75 (74.3%) had co-occurring anomalies comprising chromosomal anomalies (28 cases, 27.7%, including 18 trisomy 18), non-chromosomal syndromes (16 cases, 15.8%, including 3 cases with Beckwith-Wiedemann syndrome, 2 cases with the OEIS sequence, and one case with the Pentalogy of Cantrell complex), and 31 cases, 30.7% with MCA (multiple congenital anomalies). The most common MCA were musculoskeletal (23.5%), urogenital (20.4%), cardiovascular (15.1%), and central nervous (9.1%). Seventy-one cases of gastroschisis were ascertained (1.83 per 10,000). However, the prevalence increased during the study period. The frequency was highest in the mothers 15-19 years old. Sixteen out of the 71 cases with gastroschisis, (22.5%) had co-occurring anomalies including 11 cases of MCA and 5 cases with syndromes. To conclude, the frequency and the types of anomalies co-occurring with omphalocele and gastroschisis are peculiar. Therefore, cases with gastroschisis and omphalocele need to be screened for co-occurring anomalies.


Assuntos
Síndrome de Beckwith-Wiedemann/diagnóstico , Gastrosquise/diagnóstico , Hérnia Umbilical/diagnóstico , Síndrome da Trissomía do Cromossomo 18/genética , Parede Abdominal/patologia , Adolescente , Adulto , Síndrome de Beckwith-Wiedemann/complicações , Síndrome de Beckwith-Wiedemann/genética , Síndrome de Beckwith-Wiedemann/patologia , Aberrações Cromossômicas , Anormalidades Congênitas/diagnóstico , Anormalidades Congênitas/genética , Anormalidades Congênitas/patologia , Feminino , Gastrosquise/complicações , Gastrosquise/genética , Gastrosquise/patologia , Hérnia Umbilical/complicações , Hérnia Umbilical/genética , Hérnia Umbilical/patologia , Humanos , Recém-Nascido , Idade Materna , Mães , Síndrome da Trissomía do Cromossomo 18/complicações , Síndrome da Trissomía do Cromossomo 18/diagnóstico , Síndrome da Trissomía do Cromossomo 18/patologia , Adulto Jovem
12.
J Surg Res ; 266: 88-95, 2021 10.
Artigo em Inglês | MEDLINE | ID: mdl-33989892

RESUMO

BACKGROUND: The optimal anesthesia modality for umbilical hernia repair is unclear. We hypothesized that using local rather than general anesthesia would be associated with improved outcomes, especially for frail patients. METHODS: We utilized the 1998-2018 Veterans Affairs Surgical Quality Improvement Program to identify patients who underwent elective, open umbilical hernia repair under general or local anesthesia. We used the Risk Analysis Index to measure frailty. Outcomes included complications and operative time. RESULTS: There were 4958 Veterans (13%) whose hernias were repaired under local anesthesia. Compared to general anesthesia, local was associated with a 12%-24% faster operative time for all patients, and an 86% lower (OR 0.14, 95%CI 0.03-0.72) complication rate for frail patients. CONCLUSIONS: Local anesthesia may reduce the operative time for all patients and complications for frail patients having umbilical hernia repair.


Assuntos
Anestesia Geral/efeitos adversos , Anestesia Local , Fragilidade/complicações , Hérnia Umbilical/cirurgia , Herniorrafia/métodos , Saúde dos Veteranos , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Bases de Dados Factuais , Procedimentos Cirúrgicos Eletivos/métodos , Feminino , Idoso Fragilizado , Hérnia Umbilical/complicações , Humanos , Modelos Lineares , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Duração da Cirurgia , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/etiologia , Complicações Pós-Operatórias/prevenção & controle , Resultado do Tratamento , Adulto Jovem
13.
Prenat Diagn ; 41(4): 486-496, 2021 03.
Artigo em Inglês | MEDLINE | ID: mdl-33540475

RESUMO

An omphalocele is a congenital defect in the abdominal wall characterized by absent abdominal muscles, fascia, and skin. The characteristic ultrasound appearance includes a midline defect with herniation of abdominal contents into the base of the umbilical cord. Other anatomic abnormalities are seen in approximately 50% of cases, most notably cardiac defects (19%-32%). Approximately, 50% of cases are associated with genetic and multiple malformation syndromes including trisomy 13/18, pentalogy of Cantrell and Beckwith-Wiedemann syndrome. Therefore, a thorough evaluation is recommended, including detailed anatomic survey, fetal echocardiogram, genetic counseling, and prenatal diagnostic testing. Overall prognosis depends on the size of the omphalocele, genetic studies, and associated anomalies. Early prenatal diagnosis remains important in order to provide parental counseling and assist in pregnancy management. Delivery should occur at a tertiary care center. Timing and mode of delivery should be based on standard obstetric indications with cesarean delivery reserved for large omphalocele (>5 cm) or those that involve the fetal liver. Neonatal management involves either primary or staged reduction, both of which can be associated with a prolonged neonatal hospitalization.


Assuntos
Hérnia Umbilical/diagnóstico , Pais/psicologia , Relações Profissional-Paciente , Feminino , Hérnia Umbilical/complicações , Hérnia Umbilical/psicologia , Humanos , Recém-Nascido , Imageamento por Ressonância Magnética/métodos , Gravidez , Diagnóstico Pré-Natal/métodos , Diagnóstico Pré-Natal/psicologia , Revelação da Verdade
14.
Prenat Diagn ; 41(7): 798-816, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-33687072

RESUMO

OBJECTIVE: Describe the prevalence, perinatal and long-term outcomes of Beckwith-Wiedemann syndrome (BWS) among prenatally detected omphaloceles. METHODS: All prenatally diagnosed omphaloceles from 2010 to 2015 within a single tertiary care centre were identified. An echocardiogram and detailed fetal ultrasound were performed, and amniocentesis was offered with karyotype/microarray analysis and BWS molecular testing. Perinatal, neonatal, and long-term outcomes were retrieved for BWS cases. RESULTS: Among 92 omphaloceles, 62 had additional anomalies. Abnormal karyotypes were identified in 23/62 (37%) non-isolated and 2/30 (7%) isolated cases. One BWS case (5%) was identified among non-isolated omphaloceles and six BWS cases (37.5%) were identified among isolated omphaloceles after exclusion of aneuploidy. Among 19 BWS cases, 21% were conceived by ART. All omphaloceles underwent primary closure. Prenatally, macrosomia and polyhydramnios were seen in 42%. Macroglossia and nephromegaly were more commonly detected postnatally. Preterm birth occurred in 10/19 (53%) cases and cesarean deliveries were performed in 7/19 (40%) cases. Overall mortality was 20% (4/19). Embryonal tumors were diagnosed in 2/16 (12.5%) children, and neurodevelopmental outcomes were normal in 9/12 (75%) survivors. CONCLUSIONS: After excluding aneuploidy, BWS was identified in 37.5% and 5% of isolated and non-isolated omphaloceles, respectively. Omphaloceles were small-moderate size with good long-term surgical and neurodevelopmental outcomes when isolated.


Assuntos
Síndrome de Beckwith-Wiedemann/fisiopatologia , Hérnia Umbilical/fisiopatologia , Adulto , Síndrome de Beckwith-Wiedemann/complicações , Síndrome de Beckwith-Wiedemann/epidemiologia , Correlação de Dados , Feminino , Hérnia Umbilical/complicações , Hérnia Umbilical/epidemiologia , Humanos , Ontário/epidemiologia , Gravidez , Diagnóstico Pré-Natal
15.
Am J Perinatol ; 38(S 01): e109-e115, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-32198744

RESUMO

OBJECTIVE: Pulmonary hypertension (PH) has been described in the neonatal omphalocele population. This study was aimed to describe cardiac function and PH severity using echocardiography in newborns with giant omphalocele (GO) and with non-GO and determine if right ventricular (RV) dysfunction is associated with mortality. STUDY DESIGN: Retrospective, single-center analysis of first echocardiography among neonatal omphalocele patients born between 2004 and 2017 was conducted. Multivariate logistic and univariate Cox's regression was constructed to measure hazard ratio (HR) for death outcome. RESULTS: There were 32 newborns, of whom 18 were GO and 7 died. GO had increased systolic pulmonary arterial to systolic systemic blood pressure ratio (97% [isosystemic] vs. 73% [three-fourths systemic] p = 0.03). RV performance parameters (tricuspid annular plane excursion, HR = 0.40; fractional area change, HR = 0.90; and RV peak global longitudinal strain, HR = 1.39) were associated with mortality. These RV performance parameters remained associated in a multiple logistic regression accounting for gestational age and GO status. The overall population had abnormal eccentricity index and pulmonary artery acceleration time to RV ejection time ratio, two markers of PH. CONCLUSION: Patients with omphalocele have increased pulmonary pressure, with GO being worse than non-GO. RV dysfunction at initial echocardiography was significantly associated with mortality.


Assuntos
Ventrículos do Coração/diagnóstico por imagem , Hérnia Umbilical/complicações , Hipertensão Pulmonar/complicações , Disfunção Ventricular Direita/complicações , Ecocardiografia Doppler , Feminino , Ventrículos do Coração/fisiopatologia , Hérnia Umbilical/mortalidade , Hérnia Umbilical/fisiopatologia , Humanos , Hipertensão Pulmonar/diagnóstico , Recém-Nascido , Estimativa de Kaplan-Meier , Modelos Logísticos , Masculino , Gravidade do Paciente , Estudos Retrospectivos , Disfunção Ventricular Direita/diagnóstico por imagem
16.
Pediatr Surg Int ; 37(1): 93-99, 2021 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-33231719

RESUMO

PURPOSE: Management of infants with OEIS complex is challenging and not standardized. Expeditious surgery after birth has been recommended to limit soilage of the urinary tract and optimize intestinal function. However, clinical instability secondary to comorbidities is common in this population and early operation carries risk. We sought to define the risk/benefit profile of delaying repair. METHODS: All newborn patients with OEIS managed by our institution between Sep 2017 and Oct 2019 were reviewed. Comorbidities were evaluated, including cardiopulmonary pathologies and associated malformations. RESULTS: Ten patients with OEIS were managed. Patients underwent early (2 patients, repair at 0-2 days) or delayed (6 patients, repair at 6-87 days) first-stage exstrophy repair. Two patients died prior to repair (progressive respiratory failure, severe genetic anomalies). Repairs were delayed secondary to cardiac conditions, neurosurgical interventions, medical disease, and/or delayed transfer. Delayed repair patients had longer lengths of stay and use of parenteral nutrition. No patients experienced urinary tract infections prior to repair. CONCLUSIONS: Delaying first-stage exstrophy repair to allow physiologic optimization is safe. All repaired patients were discharged home, without parenteral nutrition or supplemental oxygen.


Assuntos
Anus Imperfurado/cirurgia , Hérnia Umbilical/cirurgia , Escoliose/cirurgia , Anormalidades Urogenitais/cirurgia , Anormalidades Múltiplas , Anus Imperfurado/complicações , Comorbidade , Feminino , Cardiopatias Congênitas/complicações , Cardiopatias/complicações , Hérnia Umbilical/complicações , Humanos , Lactente , Recém-Nascido , Tempo de Internação/estatística & dados numéricos , Pulmão/anormalidades , Pneumopatias/complicações , Masculino , Escoliose/complicações , Tempo para o Tratamento , Resultado do Tratamento , Anormalidades Urogenitais/complicações
17.
Am J Med Genet A ; 182(11): 2646-2661, 2020 11.
Artigo em Inglês | MEDLINE | ID: mdl-32924308

RESUMO

Several recurrent malformation associations affecting the development of the embryo have been described in which a genetic etiology has not been found, including LBWC, MURCS, OAVS, OEIS, POC, VACTERL, referred to here as "recurrent constellations of embryonic malformations" (RCEM). All are characterized by an excess of reported monozygotic discordant twins and lack of familial recurrence. We performed a comprehensive review of published twin data across all six phenotypes to allow a more robust assessment of the association with twinning and potential embryologic timing of a disruptive event. We recorded the type of twinning, any overlapping features of another RCEM, maternal characteristics, and the use of ART. Statistically significant associations included an excess of monozygotic twins and 80% discordance rate for the phenotype across all twins. There was an 18.5% rate of ART and no consistently reported maternal adverse events during pregnancy. We found 24 instances of co-occurrence of two RCEM, suggesting a shared pathogenesis across all RCEM phenotypes. We hypothesize the following timing for RCEM phenotypes from the earliest perturbation in development to the latest: LBWC, POC, OEIS, VACTERL, OAVS, then MURCS. The RCEM group of conditions should be considered a spectrum that could be studied as a group.


Assuntos
Anormalidades Múltiplas/classificação , Anormalidades Múltiplas/diagnóstico , Transtornos 46, XX do Desenvolvimento Sexual/complicações , Anormalidades Múltiplas/epidemiologia , Anus Imperfurado/complicações , Extrofia Vesical/complicações , Cloaca/anormalidades , Anormalidades Congênitas , Atresia Esofágica/complicações , Feminino , Cardiopatias Congênitas/complicações , Hérnia Umbilical/complicações , Humanos , Recém-Nascido , Masculino , Ductos Paramesonéfricos/anormalidades , Fenótipo , Gravidez , Recidiva , Fístula Traqueoesofágica/complicações , Estudos em Gêmeos como Assunto , Gêmeos Dizigóticos/genética , Gêmeos Monozigóticos/genética
18.
Am J Med Genet A ; 182(11): 2581-2593, 2020 11.
Artigo em Inglês | MEDLINE | ID: mdl-32885608

RESUMO

Gastroschisis and omphalocele are the two most common abdominal wall birth defects, and epidemiologic characteristics and frequency of occurrence as part of a syndromic condition suggest distinct etiologies between the two defects. We assessed complex patterns of defect co-occurrence with these defects separately using the Texas Birth Defects Registry. We used co-occurring defect analysis (CODA) to compute adjusted observed-to-expected (O/E) ratios for all observed birth defect patterns. There were 2,998 non-syndromic (i.e., no documented syndrome diagnosis identified) cases with gastroschisis and 789 (26%) of these had additional co-occurring defects. There were 720 non-syndromic cases with omphalocele, and 404 (56%) had additional co-occurring defects. Among the top 30 adjusted O/E ratios for gastroschisis, most of the co-occurring defects were related to the gastrointestinal system, though cardiovascular and kidney anomalies were also present. Several of the top 30 combinations co-occurring with omphalocele appeared suggestive of OEIS (omphalocele, exstrophy of cloaca, imperforate anus, spinal defects) complex. After the exclusion of additional cases with features suggestive of OEIS in a post-hoc sensitivity analysis, the top combinations involving defects associated with OEIS (e.g., spina bifida) were no longer present. The remaining top combinations involving omphalocele included cardiovascular, gastrointestinal, and urogenital defects. In summary, we identified complex patterns of defects that co-occurred more frequently than expected with gastroschisis and omphalocele using a novel software platform. Better understanding differences in the patterns between gastroschisis and omphalocele could lead to additional etiologic insights.


Assuntos
Anormalidades Múltiplas/epidemiologia , Anormalidades Congênitas/epidemiologia , Gastrosquise/epidemiologia , Hérnia Umbilical/epidemiologia , Anormalidades Múltiplas/genética , Adulto , Anus Imperfurado/complicações , Anus Imperfurado/genética , Cloaca/anormalidades , Anormalidades Congênitas/genética , Feminino , Gastrosquise/complicações , Gastrosquise/genética , Hérnia Umbilical/complicações , Hérnia Umbilical/genética , Humanos , Recém-Nascido , Masculino , Idade Materna , Gravidez , Sistema de Registros , Software , Coluna Vertebral/anormalidades , Texas/epidemiologia , Adulto Jovem
19.
Surg Endosc ; 34(8): 3584-3589, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-31576443

RESUMO

BACKGROUND: Currently, there's not a well-accepted optimal approach for umbilical hernia repair in patients with obesity when comparing laparoscopic umbilical hernia repair (LUHR) versus open umbilical hernia repair (OUHR). OBJECTIVE: The objective of this study was to evaluate if there's a difference in postoperative complications after LUHR versus OUHR with the goal of indicating an optimal approach. METHODS: A retrospective analysis was completed using the 2016 National Surgical Quality Improvement Program (NSQIP) database to identify patients with obesity (Body Mass Index (BMI) ≥ 30 kg/m2) who underwent LUHR or OUHR. Patients were divided into OUHR and LUHR groups, and post-operative outcomes were compared, focusing on wound complications. RESULTS: A total of 12,026 patients with obesity who underwent umbilical hernia repair were identified; 9695 underwent OUHR, while 2331 underwent LUHR. The LUHR group was found to have a statistically significant higher BMI (37.5 kg/m2 vs. 36.1 kg/m2; p < 0.01) and higher incidence of diabetes mellitus requiring therapy (18.4% vs. 15.8%; p < 0.01), hypertension (47.5% vs. 43.8%; p < 0.01), and current smoker status (18.6% vs. 16.5%; p < 0.02). Superficial surgical site infection (SSI) was significantly higher in the OUHR group (1.5% vs. 0.9%; p < 0.03), and there was a trend towards higher deep SSI in the OUHR group (0.3% vs. 0.5%; p = 0.147). There was no difference in organ space SSI, wound disruption, or return to OR. On logistic regression, composite SSI rate (defined as superficial, deep, and organ space SSIs) was significantly increased in the OUHR group (p < 0.01). Predictive factors significantly associated with increased morbidity included female gender and higher BMI. CONCLUSIONS: In patients with obesity, even though the LUHR group had an overall higher BMI and higher rates of diabetes, hypertension, and current smoking status, they experienced decreased post-operative wound complications compared to the OUHR group.


Assuntos
Hérnia Umbilical/cirurgia , Herniorrafia , Laparoscopia , Feminino , Hérnia Umbilical/complicações , Herniorrafia/efeitos adversos , Herniorrafia/métodos , Herniorrafia/estatística & dados numéricos , Humanos , Laparoscopia/efeitos adversos , Laparoscopia/métodos , Laparoscopia/estatística & dados numéricos , Masculino , Obesidade/complicações , Melhoria de Qualidade , Reoperação/estatística & dados numéricos , Estudos Retrospectivos , Infecção da Ferida Cirúrgica/epidemiologia , Resultado do Tratamento
20.
Pediatr Emerg Care ; 36(9): e527-e529, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32701870

RESUMO

The umbilical hernia is common in children. Most of the cases have a spontaneous regression around the age of 3 years. Complications are very rare, and thus surgery is not routinely indicated before the age of 3 years. We report an exceptional case of spontaneous rupture of an umbilical hernia with emphasis on the management of this rare complication and a literature review of similar cases.


Assuntos
Hérnia Umbilical/complicações , Ruptura Espontânea/complicações , Prolapso Visceral/etiologia , Pré-Escolar , Feminino , Herniorrafia , Humanos , Ruptura Espontânea/cirurgia , Prolapso Visceral/cirurgia
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