RESUMO
OBJECTIVE: Fetal anomalies occur in approximately 3% of pregnancies and receiving the diagnosis may be a potentially traumatic experience for families. The mental health of mothers receiving diagnoses and what predicts resilience or poor mental health is understudied. Emotion regulation is an important, modifiable, transdiagnostic factor of mental health, and may be protective post-diagnosis. Evaluating biomarkers of stress, including IL-6 and Allostatic Load (AL), can also serve as early indicators of risk, indicative of early intervention. This study assessed whether reappraisal, suppression, IL-6, and AL was associated with mental health outcomes and resilience in women after receiving a fetal anomaly diagnosis. METHODS: Pregnant women (N=108) presenting to a fetal concerns clinic for initial consultation completed measures of emotion regulation (i.e., reappraisal and suppression), depression, anxiety, posttraumatic stress symptoms, and resilience between 2019-2022. A blood draw was used to assess IL-6 and create composite allostatic load measure including: IL-6, blood pressure, heart rate, glucose, cortisol, and body mass index. RESULTS: Linear regressions controlling for age, gestational age, and perceived fetal diagnosis severity, demonstrated that IL-6 was negatively associated with resilience and positively associated with depression. Reappraisal was positively associated to resilience and negatively associated with depression, anxiety, and PTSD, whereas state insurance status was positively associated to anxiety and PTS symptoms. Suppression and allostatic load were not significant. CONCLUSIONS: Women experiencing fetal anomaly diagnosis represent an understudied population with unaddressed mental health needs. Reappraisal serves as not only a protective factor, but one that can be enhanced to promote maternal resilience and mental health. Furthermore, elevated IL-6 may be a critical early indicator of potential intervention needs among women who are pregnant, to mitigate negative psychological states and enhance resilience.
Assuntos
Ansiedade , Depressão , Regulação Emocional , Inflamação , Interleucina-6 , Saúde Mental , Humanos , Feminino , Gravidez , Adulto , Interleucina-6/sangue , Regulação Emocional/fisiologia , Resiliência Psicológica , Alostase/fisiologia , Transtornos de Estresse Pós-Traumáticos/psicologia , Anormalidades Congênitas/psicologia , Biomarcadores/sangue , Estresse Psicológico , Diagnóstico Pré-Natal/métodos , Adulto Jovem , Feto , Saúde MaternaRESUMO
Fetal surgery is a constantly evolving field that showed noticeable progress with the treatment of myelomeningocele (MMC) using prenatal repair. Despite this success, there are ongoing questions regarding the optimal approach for fetal myelomeningocele repair, as well as which patients are eligible. Expansion of the inclusion and exclusion criteria is an important ongoing area of study for myelomeningocele including the recent Management of Myelomeningocele Plus trial. The significant personal and financial burden required of families seeking treatment has likely limited its accessibility to the general population.
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Terapias Fetais , Meningomielocele , Feminino , Fetoscopia , Feto/cirurgia , Humanos , Meningomielocele/cirurgia , Gravidez , Cuidado Pré-Natal , VitaminasRESUMO
INTRODUCTION: Uterine incision based on the placental location in open maternal-fetal surgery (OMFS) has never been evaluated in regard to maternal or fetal outcomes. OBJECTIVE: The aim of this study was to investigate whether an anterior placenta was associated with increased rates of intraoperative, perioperative, antepartum, obstetric, or neonatal complications in mothers and babies who underwent OMFS for fetal myelomeningocele (fMMC) closure. METHODS: Data from the international multicenter prospective registry of patients who underwent OMFS for fMMC closure (fMMC Consortium Registry, December 15, 2010-June 31, 2019) was used to compare fetal and maternal outcomes between anterior and posterior placental locations. RESULTS: The placental location for 623 patients was evenly distributed between anterior (51%) and posterior (49%) locations. Intraoperative fetal bradycardia (8.3% vs. 3.0%, p = 0.005) and performance of fetal resuscitation (3.6% vs. 1.0%, p = 0.034) occurred more frequently in cases with an anterior placenta when compared to those with a posterior placenta. Obstetric outcomes including membrane separation, placental abruption, and spontaneous rupture of membranes were not different among the 2 groups. However, thinning of the hysterotomy site (27.7% vs. 17.7%, p = 0.008) occurred more frequently in cases of an anterior placenta. Gestational age (GA) at delivery (p = 0.583) and length of stay in the neonatal intensive care unit (p = 0.655) were similar between the 2 groups. Fetal incision dehiscence and wound revision were not significantly different between groups. Critical clinical outcomes including fetal demise, perinatal death, and neonatal death were all infrequent occurrences and not associated with the placental location. CONCLUSIONS: An anterior placental location is associated with increased risk of intraoperative fetal resuscitation and increased thinning at the hysterotomy closure site. Individual institutional experiences may have varied, but the aggregate data from the fMMC Consortium did not show a significant impact on the GA at delivery or maternal or fetal clinical outcomes.
Assuntos
Terapias Fetais , Meningomielocele , Feminino , Terapias Fetais/efeitos adversos , Idade Gestacional , Humanos , Histerotomia/efeitos adversos , Recém-Nascido , Meningomielocele/etiologia , Meningomielocele/cirurgia , Placenta/cirurgia , GravidezRESUMO
Congenital diaphragmatic hernia (CDH) is a severe congenital anomaly that is often accompanied by other anomalies. Although the role of genetics in the pathogenesis of CDH has been established, only a small number of disease-associated genes have been identified. To further investigate the genetics of CDH, we analyzed de novo coding variants in 827 proband-parent trios and confirmed an overall significant enrichment of damaging de novo variants, especially in constrained genes. We identified LONP1 (lon peptidase 1, mitochondrial) and ALYREF (Aly/REF export factor) as candidate CDH-associated genes on the basis of de novo variants at a false discovery rate below 0.05. We also performed ultra-rare variant association analyses in 748 affected individuals and 11,220 ancestry-matched population control individuals and identified LONP1 as a risk gene contributing to CDH through both de novo and ultra-rare inherited largely heterozygous variants clustered in the core of the domains and segregating with CDH in affected familial individuals. Approximately 3% of our CDH cohort who are heterozygous with ultra-rare predicted damaging variants in LONP1 have a range of clinical phenotypes, including other anomalies in some individuals and higher mortality and requirement for extracorporeal membrane oxygenation. Mice with lung epithelium-specific deletion of Lonp1 die immediately after birth, most likely because of the observed severe reduction of lung growth, a known contributor to the high mortality in humans. Our findings of both de novo and inherited rare variants in the same gene may have implications in the design and analysis for other genetic studies of congenital anomalies.
Assuntos
Proteases Dependentes de ATP/genética , Proteases Dependentes de ATP/fisiologia , Anormalidades Craniofaciais/genética , Variações do Número de Cópias de DNA , Anormalidades do Olho/genética , Transtornos do Crescimento/genética , Hérnias Diafragmáticas Congênitas/genética , Luxação Congênita de Quadril/genética , Proteínas Mitocondriais/genética , Proteínas Mitocondriais/fisiologia , Mutação de Sentido Incorreto , Osteocondrodisplasias/genética , Anormalidades Dentárias/genética , Animais , Estudos de Casos e Controles , Estudos de Coortes , Anormalidades Craniofaciais/patologia , Anormalidades do Olho/patologia , Feminino , Transtornos do Crescimento/patologia , Hérnias Diafragmáticas Congênitas/patologia , Luxação Congênita de Quadril/patologia , Humanos , Masculino , Camundongos , Camundongos Endogâmicos C57BL , Camundongos Knockout , Osteocondrodisplasias/patologia , Linhagem , Anormalidades Dentárias/patologiaRESUMO
INTRODUCTION: Prior data suggest that infants with gastroschisis are at high risk for hypothermia and infectious complications (ICs). This study evaluated the associations between perioperative hypothermia (PH) and ICs in gastroschisis using a multi-institutional cohort. METHODS: Retrospective review of infants with gastroschisis who underwent abdominal closure from 2013-2017 was performed at 7 children's hospitals. Any-IC and surgical site infection (SSI) were stratified against the presence or absence of PH, and perioperative characteristics associated with PH and SSI were determined using multivariable logistic regression. RESULTS: Of 256 gastroschisis neonates, 42% developed PH, with 18% classified as mild hypothermia (35.5-35.9⯰C), 10.5% as moderate (35.0-35.4⯰C), and 13% severe (<35⯰C). There were 82 (32%) ICs with 50 (19.5%) being SSIs. No associations between PH and any-IC (p = 0.7) or SSI (p = 0.98) were found. Pulmonary comorbidities (odds ratio (OR)=3.76, 95%CI:1.42-10, p = 0.008) and primary closure (OR=0.21, 95%CI:0.12-0.39, p<0.001) were associated with PH, while silo placement (OR=2.62, 95%CI:1.1-6.3, p = 0.03) and prosthetic patch (OR=3.42, 95%CI:1.4-8.3, p = 0.007) were associated with SSI on multivariable logistic regression. CONCLUSIONS: Primary abdominal closure and pulmonary comorbidities are associated with PH in gastroschisis, however PH was not associated with increased risk of ICs. Independent risk factors for SSI include silo placement and prosthetic patch closure.
Assuntos
Gastrosquise , Hipotermia , Criança , Gastrosquise/complicações , Gastrosquise/epidemiologia , Gastrosquise/cirurgia , Humanos , Hipotermia/epidemiologia , Hipotermia/etiologia , Lactente , Recém-Nascido , Estudos Retrospectivos , Fatores de Risco , Infecção da Ferida Cirúrgica/epidemiologia , Infecção da Ferida Cirúrgica/etiologia , Resultado do TratamentoRESUMO
BACKGROUND: Congenital diaphragmatic hernia (CDH) occurs in 1 out of 2500-3000 live births. Right-sided CDHs (R-CDHs) comprise 25% of all CDH cases, and data are conflicting on outcomes of these patients. The aim of our study was to compare outcomes in patients with right versus left CDH (L-CDH). METHODS: We analyzed a multicenter prospectively enrolled database to compare baseline characteristics and outcomes of neonates enrolled from January 2005 to January 2019 with R-CDH vs. L-CDH. RESULTS: A total of 588, 495 L-CDH, and 93 R-CDH patients with CDH were analyzed. L-CDHs were more frequently diagnosed prenatally (p=0.011). Lung-to-head ratio was similar in both cohorts. R-CDHs had a lower frequency of primary repair (p=0.022) and a higher frequency of need for oxygen at discharge (p=0.013). However, in a multivariate analysis, need for oxygen at discharge was no longer significantly different. There were no differences in long-term neurodevelopmental outcomes assessed at two year follow up. There was no difference in mortality, need for ECMO, pulmonary hypertension, or hernia recurrence. CONCLUSION: In this large series comparing R to L-CDH patients, we found no significant difference in mortality, use of ECMO, or pulmonary complications. Our study supports prior studies that R-CDHs are relatively larger and more often require a patch or muscle flap for repair. TYPE OF STUDY: Prognosis study LEVEL OF EVIDENCE: Level II.
Assuntos
Hérnias Diafragmáticas Congênitas , Oxigenação por Membrana Extracorpórea , Hérnias Diafragmáticas Congênitas/complicações , Hérnias Diafragmáticas Congênitas/epidemiologia , Hérnias Diafragmáticas Congênitas/mortalidade , Hérnias Diafragmáticas Congênitas/terapia , Humanos , Hipertensão Pulmonar , Recém-Nascido , Estudos RetrospectivosRESUMO
Ex Utero Intrapartum Treatment (EXIT) is a technique developed to safely and efficiently establish cardiopulmonary support at delivery while maintaining placental bypass. Indications for the EXIT approach are expanding and currently include EXIT-to-airway, EXIT-to-resection, EXIT-to-extracorporeal membrane oxygenation (ECMO), and EXIT-to-separation of conjoined twins. The EXIT technique involves planned partial delivery of the fetus via hysterotomy while maintaining uterine relaxation and placental support, allowing for the establishment of neonatal cardiopulmonary stability in a controlled manner. Fetal interventions performed during EXIT can include endotracheal intubation, tracheostomy, mass excision, removal of a temporary tracheal occlusive device, ECMO cannulation, and others. The most important aspect of an EXIT procedure is the formation of a multi-disciplinary team with broad expertise in fetal intervention to collaborate throughout the pre, intra, and post-partum periods. This chapter reviews the prenatal workup, decision making, surgical indications, and operative considerations associated with EXIT procedures.
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Doenças Fetais/cirurgia , Histerotomia , Obstrução das Vias Respiratórias/congênito , Obstrução das Vias Respiratórias/cirurgia , Anestesia Geral , Oxigenação por Membrana Extracorpórea , Feminino , Humanos , Recém-Nascido , Equipe de Assistência ao Paciente , Gravidez , Diagnóstico Pré-NatalRESUMO
BACKGROUND: Open maternal-fetal surgery for fetal myelomeningocele results in reduction in neonatal morbidity related to spina bifida but may be associated with fetal, neonatal, and maternal complications in subsequent pregnancies. OBJECTIVE: The objective of this study was to ascertain obstetric risk in subsequent pregnancies after open maternal-fetal surgery for fetal myelomeningocele closure. STUDY DESIGN: An international multicenter prospective observational registry created to track and report maternal, obstetric, fetal/neonatal, and subsequent pregnancy outcomes following open maternal-fetal surgery for fetal myelomeningocele was evaluated for subsequent pregnancy outcome variables. Institutional Review Board approval was obtained for the registry. RESULTS: From 693 cases of open maternal-fetal surgery for fetal myelomeningocele closure entered into the registry, 77 subsequent pregnancies in 60 women were identified. The overall live birth rate was 96.2%, with 52 pregnancies delivering beyond 20 weeks gestational age and median gestational age at delivery of 37 (36.3-37.1) weeks. The uterine rupture rate was 9.6% (n = 5), resulting in 2 fetal deaths. Maternal transfusion was required in 4 patients (7.7%). CONCLUSION: The risk of uterine rupture or dehiscence in subsequent pregnancies with associated fetal morbidity after open maternal-fetal surgery is significant, but is similar to that reported for subsequent pregnancies after classical cesarean deliveries. Future pregnancy considerations should be included in initial counseling for women contemplating open maternal-fetal surgery.
Assuntos
Feto/cirurgia , Meningomielocele/cirurgia , Resultado da Gravidez , Aborto Espontâneo/epidemiologia , Adulto , Transfusão de Sangue/estatística & dados numéricos , Cesárea , Feminino , Morte Fetal , Idade Gestacional , Humanos , Nascido Vivo , Gravidez , Estudos Prospectivos , Sistema de Registros , Ruptura Uterina/epidemiologiaRESUMO
OBJECTIVE: The aim of this study was to determine if meconium-stained amniotic fluid (MSAF) was associated with neonatal outcomes in gastroschisis. STUDY DESIGN: A retrospective chart review of gastroschisis patients from 2000 to 2014 at a single, tertiary institution was performed. Statistical analysis was performed with Fisher exact test, Welch's t-test, logistic regression and/or linear regression with significance at pâ¯<â¯0.05. RESULTS: Sixty-four of 135 (47.4%) gastroschisis patients had MSAF. On univariate analysis, patients with MSAF were more likely to require staged closure (30 (46.9%) vs. 18(25.4%), pâ¯=â¯0.012), had more ventilator days (8.9⯱â¯11.1 vs. 5.3⯱â¯6.3, pâ¯=â¯0.021) and longer times to commence enteral feeds (24.9⯱â¯21.7 vs. 18.5⯱â¯14.5, pâ¯=â¯0.045). However, multi-variate regression analysis controlling for the type of closure, showed that delayed closure, but not MSAF, was associated with worse outcomes. CONCLUSIONS: In gastroschisis patients, MSAF is associated with delayed closure but is not associated with outcomes independent of closure type. This association may be because of the matting of the bowel or increased intestinal damage. The MSAF status will aid in setting expectations for parents during their initial NICU stay and further investigation is warranted. TYPE OF STUDY: Clinical Research Paper Level of evidence: III.
Assuntos
Líquido Amniótico , Gastrosquise/diagnóstico , Mecônio , Feminino , Gastrosquise/terapia , Humanos , Recém-Nascido , Modelos Lineares , Modelos Logísticos , Masculino , Prognóstico , Estudos RetrospectivosRESUMO
INTRODUCTION: Isomerism, or heterotaxy syndrome, affects many organ systems anatomically and functionally. Intestinal malrotation is common in patients with isomerism. Despite a low reported risk of volvulus, some physicians perform routine screening and prophylactic Ladd procedures on asymptomatic patients with isomerism who are found to have intestinal malrotation. The primary aim of this study was to determine if isomerism is an independent risk factor for volvulus. METHODS: Kid's Inpatient Database data from 1997 to 2012 was utilized for this study. Characteristics of admissions with and without isomerism were compared with a particular focus on intestinal malrotation, volvulus, and Ladd procedure. A logistic regression was conducted to determine independent risk factors for volvulus with respect to isomerism. RESULTS: 15,962,403 inpatient admissions were included in the analysis, of which 7970 (0.05%) patients had isomerism, and 6 patients (0.1%) developed volvulus. Isomerism was associated with a 52-fold increase in the odds of intestinal malrotation by univariate analysis. Of 251 with isomerism and intestinal malrotation, only 2.4% experienced volvulus. Logistic regression demonstrated that isomerism was not an independent risk factor for volvulus. CONCLUSION: Isomerism is associated with an increased risk of intestinal malrotation but is not an independent risk factor for volvulus. TYPE OF STUDY: Prognosis study. LEVEL OF EVIDENCE: Level III.
Assuntos
Síndrome de Heterotaxia/complicações , Volvo Intestinal/etiologia , Adolescente , Criança , Pré-Escolar , Estudos Transversais , Feminino , Síndrome de Heterotaxia/diagnóstico , Humanos , Lactente , Recém-Nascido , Modelos Logísticos , Masculino , Prognóstico , Fatores de RiscoRESUMO
PURPOSE: The aim of this study was to evaluate the incidence and importance of organ prolapse (stomach, bladder, reproductive organs) in gastroschisis. METHODS: This is a retrospective review of gastroschisis patients from 2000 to 2014 at a single tertiary institution. Statistical analysis was performed using a chi-square test, Student's t test, log-rank test, or Cox regression analysis models. All tests were conducted as two-tailed tests, and p-values <0.05 were considered statistically significant. RESULTS: One hundred seventy-one gastroschisis patients were identified. Sixty-nine (40.6%) had at least one prolapsed organ besides bowel. The most commonly prolapsed organs were stomach (n=45, 26.3%), reproductive organs (n=34, 19.9%), and bladder (n=15, 8.8%). Patients with prolapsed organs were more likely to have simple gastroschisis with significant decreases in the rate of atresia and necrosis/perforation. They progressed to earlier enteral feeds, discontinuation of parenteral nutrition, and discharge. Likewise, these patients were less likely to have complications such as central line infections, sepsis, and short gut syndrome. CONCLUSIONS: Gastroschisis is typically described as isolated bowel herniation, but a large portion have prolapse of other organs. Prolapsed organs are associated with simple gastroschisis, and improved outcomes most likely due to a larger fascial defect. This may be useful for prenatal and postnatal counseling of families. TYPE OF STUDY: Case Control/Retrospective Comparative Study. LEVEL OF EVIDENCE: Level III.
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Gastrosquise/complicações , Gastrosquise/terapia , Prolapso , Gastropatias/etiologia , Doenças da Bexiga Urinária/etiologia , Nutrição Enteral , Feminino , Humanos , Recém-Nascido , Masculino , Nutrição Parenteral Total , Estudos Retrospectivos , Resultado do TratamentoRESUMO
BACKGROUND/PURPOSE: Elective preterm delivery (EPD) of a fetus with gastroschisis may prevent demise and ameliorate intestinal injury. While the literature on optimal timing of delivery varies, we hypothesize that a potential benefit may be found with EPD. METHODS: A meta-analysis of publications describing timing of delivery in gastroschisis from 1/1990 to 8/2016 was performed, including studies where either elective preterm delivery (group 1, G1) or preterm gestational age (GA) (group 2, G2) were evaluated against respective comparators. The following outcomes were analyzed: total parenteral nutrition (TPN), first enteral feeding (FF), length of stay, ventilator days, fetal demise, complex gastroschisis, sepsis, and death. RESULTS: Eighteen studies describing 1430 gastroschisis patients were identified. G1 studies found less sepsis (p<0.01), fewer days to FF (p=0.03), and 11days less of TPN (p=0.07) in the preterm cohort. Comparatively, G2 studies showed less days to FF in term GA (p=0.02).Whereas G1 BWs were similar, G2 preterm had a significantly lower BW compared to controls (p=0.001). CONCLUSIONS: Elective preterm delivery appears favorable with respect to feeding and sepsis. However, benefits are lost when age is used as a surrogate of EPD. A randomized, prospective, multi-institutional trial is necessary to delineate whether EPD is advantageous to neonates with gastroschisis. TYPE OF STUDY: Treatment study. LEVEL OF EVIDENCE: Level III.
Assuntos
Cesárea , Gastrosquise/prevenção & controle , Parto , Procedimentos Cirúrgicos Eletivos , Feminino , Gastrosquise/cirurgia , Humanos , Recém-Nascido , Masculino , Nutrição Parenteral Total , Gravidez , Estudos Prospectivos , Estudos Retrospectivos , Sepse/prevenção & controleRESUMO
BACKGROUND: Maternal stress on neonatal outcomes of infants admitted to the NICU is incompletely understood. We previously demonstrated breast milk derived cytokines remain biologically active in the neonatal intestine. We hypothesized that the need for neonatal surgical intervention would be stimulus leading to maternal cytokine production thus affecting neonatal outcome. METHODS: Discarded expressed breast milk (EBM) in the first 3weeks following delivery was analyzed for IL-23 and IL-10 by ELISA. Variables analyzed included: the need for a pediatric surgical procedure, the need for cardiac surgical procedure, no surgical interventions, and survival. All values are expressed as mean±SEM. Statistical analysis utilized Kruskal and Mann-Whitney test. RESULTS: EBM from mothers whose infants required any surgical procedure (n=19) revealed significant elevation in IL-10 but not IL-23 compared to nonsurgical EBM (n=18). Subdivided by procedure type, there was no difference between those undergoing a cardiac (n=9) versus pediatric surgical (n=10) procedure in both IL-10 and IL-23. Mothers whose infants requiring surgical intervention or whose infants did not survive in the first 3weeks of life had elevation of IL-10. CONCLUSION: Results suggest maternal stress impacts the cytokine profile of breast milk. LEVEL OF EVIDENCE: Level III.
Assuntos
Interleucina-10/biossíntese , Interleucina-23/biossíntese , Leite Humano/metabolismo , Mães/psicologia , Estresse Psicológico/metabolismo , Procedimentos Cirúrgicos Operatórios/psicologia , Antecipação Psicológica , Feminino , Humanos , Recém-NascidoRESUMO
BACKGROUND: The management of malrotation in patients with congenital abdominal wall defects has varied among surgeons. We were interested in investigating the risk of midgut volvulus in patients with gastroschisis and omphalocele to help determine if these patients may benefit from undergoing a Ladd procedure. METHODS: A retrospective chart review was performed for all patients managed at three institutions born between 1/1/2000 and 12/31/2008 with a diagnosis of gastroschisis or omphalocele. Patient charts were reviewed through 12/31/2012 for occurrence of midgut volvulus or need for second laparotomy. RESULTS: Of the 414 patients identified with abdominal wall defects, 299 patients (72%) had gastroschisis, and 115 patients (28%) had omphalocele. The mean gestational age at birth was 36.1±2.3weeks, and the mean birth weight was 2.57±0.7kg. There were a total of 8 (1.9%) cases of midgut volvulus: 3 (1.0%) patients with gastroschisis compared to 5 patients (4.4%) with omphalocele (p=0.04). CONCLUSIONS: Patients with omphalocele have a greater risk of developing midgut volvulus, and a Ladd procedure should be considered during definitive repair to mitigate these risks. LEVEL OF EVIDENCE: III; retrospective comparative study.
Assuntos
Anormalidades do Sistema Digestório/etiologia , Gastrosquise/complicações , Gastrosquise/cirurgia , Hérnia Umbilical/complicações , Hérnia Umbilical/cirurgia , Volvo Intestinal/etiologia , Peso ao Nascer , Feminino , Idade Gestacional , Humanos , Recém-Nascido , Masculino , Estudos Retrospectivos , Fatores de RiscoAssuntos
Benzoquinonas/administração & dosagem , Lactamas Macrocíclicas/administração & dosagem , Leucemia Linfocítica Crônica de Células B/tratamento farmacológico , Idoso , Benzoquinonas/efeitos adversos , Benzoquinonas/farmacocinética , Relação Dose-Resposta a Droga , Feminino , Proteínas de Choque Térmico HSP90/antagonistas & inibidores , Humanos , Injeções Intravenosas , Lactamas Macrocíclicas/efeitos adversos , Lactamas Macrocíclicas/farmacocinética , Leucemia Linfocítica Crônica de Células B/metabolismo , Leucemia Linfocítica Crônica de Células B/patologia , Masculino , Dose Máxima Tolerável , Pessoa de Meia-Idade , RecidivaRESUMO
BACKGROUND: The clinical course of patients with omphalocele is challenging to predict. There is no standard method to characterize omphalocele size. Previous studies suggest that the ratio of abdominal circumference to omphalocele defect in-utero is indicative of postnatal outcomes. We hypothesize that omphalocele ratio correlates with outcomes of primary closure versus staged closure. METHODS: A retrospective chart review of all neonates diagnosed with omphalocele from 2002 to 2013 with prenatal ultrasounds available (n=30) was conducted. Omphalocele ratio was defined as omphalocele diameter/abdominal circumference (OD/AC). Data collected included primary versus staged closure, time to full feeds, duration of mechanical ventilation, and length of stay (LOS). Long-term outcomes and quality of life were also reported. RESULTS: ROC curve analysis generated optimal OD/AC ratio of 0.26. Twenty of 30 patients had a ratio less than this cutoff. Sixty percent (12/20) in the low-ratio group achieved primary closure versus zero (0/10) in the high-ratio group (p=0.001). Time on mechanical ventilation was 15.8 days (low-ratio) versus 79 days (high-ratio) (p=0.05). LOS was 33.8 days (low-ratio) versus 85.6 days (high-ratio) (p=0.119). PedsQL™ mean score was 85.5 ± 11.0 (n=20) at long-term follow-up. Readmission rates yielded no difference. CONCLUSIONS: The omphalocele ratio is a promising predictor of postnatal outcomes.
Assuntos
Técnicas de Apoio para a Decisão , Hérnia Umbilical/diagnóstico , Terapia Combinada , Feminino , Hérnia Umbilical/terapia , Herniorrafia , Humanos , Recém-Nascido , Tempo de Internação/estatística & dados numéricos , Masculino , Gravidez , Prognóstico , Qualidade de Vida , Curva ROC , Respiração Artificial/estatística & dados numéricos , Estudos Retrospectivos , Resultado do Tratamento , Ultrassonografia Pré-NatalRESUMO
Objective. Granular cell tumors arise from neurogenic mesenchymal stem cells and can occur anywhere throughout the body. They rarely present as breast masses and should be included in the differential diagnosis of pediatric breast neoplasms. We report a rare presentation of a pediatric breast granular cell tumor and a review of the literature. Participant. A 15-year-old female presented with an enlarging breast mass. She underwent ultrasound imaging and excisional biopsy, which revealed a granular cell tumor. Granular cell tumors of the breast are difficult to diagnose using ultrasound and mammography due to numerous similarities to other breast masses. Histopathologic staining best differentiates breast granular cell tumors from other breast masses with their positive staining for S100, CD68, and neurospecific enolase. Conclusion. Although rare, granular cell tumors of the breast should be considered as a possible diagnosis for pediatric breast masses to allow for proper management and follow-up for these patients. Although rare, these tumors do have malignant potential necessitating a correct and timely diagnosis.
RESUMO
BACKGROUND: The management of intestinal rotational abnormalities (IRA) in heterotaxy syndrome (HS) remains inconsistent. Because of the high incidence of malrotation in HS, screening of asymptomatic patients is standard of care in some institutions. The Ladd procedure is the treatment for malrotation, and has been reported to have high complication rates in HS patients. METHODS: We performed a systematic review of publications describing IRA in pediatric HS patients from January 1993 to present. The incidence of volvulus on surgical exploration was determined. Perioperative and long-term outcomes were analyzed to determine complication and mortality rates. RESULTS: Eleven retrospective studies describing 649 HS patients were identified. Of all patients with HS, 27% (176/649) underwent Ladd procedure. Only 1.2% (8/649) of HS patients included had volvulus. Postoperative complications occurred in 25 patients (14%), including a 10% incidence of small bowel obstruction. Perioperative and overall mortality rates after Ladd procedure were 3% and 21%, respectively. Six studies described mesenteric width, reporting 43% to have narrow mesentery. CONCLUSION: The Ladd procedure is not without significant morbidity and mortality in heterotaxy patients. Further prospective studies should investigate predictors of mesenteric width to spare the unnecessary morbidity of surgery in patients who are at low risk for volvulus.
Assuntos
Síndrome de Heterotaxia/cirurgia , Volvo Intestinal/cirurgia , Conduta Expectante , Adolescente , Doenças Assintomáticas , Criança , Pré-Escolar , Procedimentos Cirúrgicos do Sistema Digestório/métodos , Feminino , Síndrome de Heterotaxia/diagnóstico , Humanos , Incidência , Lactente , Obstrução Intestinal/etiologia , Intestinos/cirurgia , Masculino , Mesentério/anatomia & histologia , Complicações Pós-Operatórias/epidemiologia , Estudos RetrospectivosRESUMO
BACKGROUND: Congenital abdominal wall defects are associated with abnormal intestinal rotation and fixation. A Ladd's procedure is not routinely performed in these patients; it is believed intestinal fixation is provided by adhesions that develop post-repair of the defects. However, patients with omphalocele may not have adequately protective postoperative adhesions because of difference in the inflammatory state of the bowel wall and in repair strategy. The aim of this study is to describe the occurrence of midgut volvulus in patients with gastroschisis or omphalocele. METHODS: A retrospective chart review was performed for all patients managed in a single institution born between 1/1/2000 and 12/31/2008 with a diagnosis of gastroschisis or omphalocele. Patient charts were reviewed through 12/31/2012 for occurrence of midgut volvulus or need for second laparotomy. RESULTS: Of the 206 patients identified with abdominal wall defects, 142 patients (69%) had gastroschisis and 64 patients (31%) had omphalocele. Patients' follow up ranged from 4 years to 13 years. The median gestational age was 36 weeks (26-41 weeks) and the median birth weight was 2.42 kg (0.8-4.87 kg). None of the patients with gastroschisis developed midgut volvulus, however two patients (3%) with omphalocele developed midgut volvulus. CONCLUSIONS: No patients with gastroschisis developed midgut volvulus. Therefore, the current practice of not routinely performing a Ladd's procedure is a safe approach during surgical repair of gastroschisis. The two cases of volvulus in patients with omphalocele may be related to less bowel fixation. It is necessary to examine current practice in regards to the need for assessing the risk of volvulus during omphalocele closure and counseling of these patients. This assessment may be achieved via routine examination of the width of the small bowel mesenteric base, whenever feasible; however, the sample size is relatively small to draw any definitive conclusions.
Assuntos
Anormalidades do Sistema Digestório/etiologia , Gastrosquise/complicações , Hérnia Umbilical/complicações , Herniorrafia/métodos , Volvo Intestinal/etiologia , Criança , Pré-Escolar , Anormalidades do Sistema Digestório/cirurgia , Feminino , Seguimentos , Gastrosquise/cirurgia , Hérnia Umbilical/cirurgia , Humanos , Lactente , Recém-Nascido , Volvo Intestinal/cirurgia , Masculino , Estudos Retrospectivos , Fatores de RiscoRESUMO
We studied the use of a preoperative upper gastrointestinal series in children with and without major congenital anomalies undergoing gastrostomy tube (G-tube) placement. Of 1163 children evaluated, 743 had major anomalies and a total of 39 episodes of malrotation were found. All of the children with malrotation had either major congenital anomalies or cystic fibrosis. Our study suggests that an upper gastrointestinal series may be unnecessary before G-tube placement in children without other congenital anomalies or cystic fibrosis.