RESUMO
BACKGROUND AND AIMS: Outcomes after Kasai portoenterostomy (KPE) for biliary atresia remain highly variable for unclear reasons. As reliable early biomarkers predicting KPE outcomes are lacking, we studied the prognostic value of FGF19. APPROACH AND RESULTS: Serum and liver specimens, obtained from biliary atresia patients (N=87) at KPE or age-matched cholestatic controls (N=26) were included. Serum concentration of FGF19 and bile acids, liver mRNA expression of FGF19 , and key regulators of bile acid synthesis were related to KPE outcomes and liver histopathology. Immunohistochemistry and in situ hybridization were used for the localization of liver FGF19 expression. Serum levels (223 vs. 61 pg/mL, p <0.001) and liver mRNA expression of FGF19 were significantly increased in biliary atresia. Patients with unsuccessful KPE (419 vs. 145 pg/mL, p =0.047), and those subsequently underwent liver transplantation (410 vs. 99 pg/mL, p =0.007) had significantly increased serum, but not liver, FGF19, which localized mainly in hepatocytes. In Cox hazard modeling serum FGF19 <109 pg/mL predicted native liver survival (HR: 4.31, p <0.001) also among patients operated <60 days of age (HR: 8.77, p =0.004) or after successful KPE (HR: 6.76, p =0.01). Serum FGF19 correlated positively with increased serum primary bile acids ( R =0.41, p =0.004) and ductular reaction ( R =0.39, p =0.004). CONCLUSIONS: Increased serum FGF19 at KPE predicted inferior long-term native liver survival in biliary atresia and was associated with unsuccessful KPE, elevated serum primary bile acids, and ductular reaction.
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Atresia Biliar , Humanos , Lactente , Atresia Biliar/complicações , Portoenterostomia Hepática , Prognóstico , Ácidos e Sais Biliares , RNA Mensageiro , Resultado do Tratamento , Fatores de Crescimento de FibroblastosRESUMO
BACKGROUND: The long-term effects of Hirschsprung disease are clinically variable. An improved understanding of challenges patients may face as adults can help inform transitional care management. OBJECTIVE: To explore the outcomes and transitional care experiences in adult patients with Hirschsprung. DESIGN: Cohort study. SETTING: Single center. PATIENTS: All patients treated for Hirschsprung between 1977 and 2001 (aged older than 18 years at the time of survey distribution in July 2018-2019). Eligible patients were sent validated multidomain surveys and qualitative questions regarding their transitional care. MAIN OUTCOME MEASURES: Status of transitional care, bowel function, and quality-of-life assessment. Qualitative analysis of transitional care experience. RESULTS: Of 139 patients, 20 had received transition care (10 had at least 1 visit but had been discharged and 10 were receiving ongoing follow-up). These patients had inferior bowel function and quality-of-life scores at follow-up. Twenty-three patients (17%) had issues with soiling at the time of discharge, and 7 patients received transitional care. Of these 23 patients, 9 (39%) had a normal Bowel Function Score (17 or more), 5 (22%) had a poor score (less than 12), and 1 had since had a stoma formation. Eighteen patients (13%) had active moderate-severe issues related to bowel function, only 5 had been transitioned, and just 2 remained under ongoing care. Importantly, when these patients were discharged from our pediatric center, at a median age of 14 (interquartile range, 12-16) years, 10 of 17 patients had no perceptible bowel issues, suggesting a worsening of function after discharge. LIMITATIONS: The retrospective design and reliance on clinical notes to gather information on discharge status as well as patient recall of events. CONCLUSIONS: There remains a small but significant proportion of Hirschsprung patients for whom bowel function either remains or becomes a major burden. These results support a need to better stratify patients requiring transitional care and ensure a clear route to care if their status changes after discharge. See Video Abstract . ATENCIN DE TRANSICIN EN PACIENTES CON ENFERMEDAD DE HIRSCHSPRUNG, LOS QUE SE QUEDAN ATRS: ANTECEDENTES:Los efectos a largo plazo de la enfermedad de Hirschsprung son clínicamente variables. Una mejor comprensión de los desafíos que los pacientes pueden enfrentar cuando sean adultos puede ayudar a informar la gestión de la atención de transición.OBJETIVO:Explorar los resultados y las experiencias de atención de transición en pacientes adultos con Hirschsprung.DISEÑO:Estudio de cohorte.AJUSTE:Unico centro.PACIENTES:Todos los pacientes tratados por Hirschsprung 1977-2001 (edad >18 años en el momento de la encuesta, Julio de 2018-2019). A los pacientes elegibles se les enviaron encuestas multidominio validadas, así como preguntas cualitativas sobre su atención de transición.PRINCIPALES MEDIDAS DE RESULTADOS:Estado de la atención de transición, función intestinal y evaluación de la calidad de vida. Análisis cualitativo de la experiencia de cuidados transicionales.RESULTADOS:De 139 pacientes, 20 habían recibido atención de transición (10 tuvieron al menos una visita pero habían sido dados de alta y 10 estaban recibiendo seguimiento continuo). Estos pacientes tenían puntuaciones inferiores de función intestinal y calidad de vida en el seguimiento. Veintitrés (17%) pacientes tuvieron problemas para ensuciarse en el momento del alta y 7 recibieron atención de transición. De estos, 9/23 (39%) tenían una puntuación de función intestinal normal (≥17), 5/23 (22%) tenían una puntuación baja (<12) y un paciente había tenido desde entonces una formación de estoma. Dieciocho (13%) pacientes tenían problemas activos de moderados a graves relacionados con la función intestinal, solo cinco habían realizado la transición y solo 2 permanecían bajo atención continua. Es importante destacar que cuando estos pacientes fueron dados de alta de nuestro centro pediátrico, a una edad promedio de 14 [RIQ 12-16] años, 10/17 no tenían problemas intestinales perceptibles, lo que sugiere un empeoramiento de la función después del alta.LIMITACIONES:El diseño retrospectivo y la dependencia de notas clínicas para recopilar información sobre el estado del alta, así como el recuerdo de los eventos por parte del paciente.CONCLUSIÓN:Sigue existiendo una proporción pequeña pero significativa de pacientes con Hirschsprung para quienes la función intestinal permanece o se convierte en una carga importante. Estos resultados respaldan la necesidad de estratificar mejor a los pacientes que requieren atención de transición y garantizar una ruta clara hacia la atención si su estado cambia después del alta. ( Traducción-Dr. Yesenia Rojas-Khalil ).
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Doença de Hirschsprung , Qualidade de Vida , Humanos , Doença de Hirschsprung/terapia , Doença de Hirschsprung/cirurgia , Masculino , Feminino , Adulto , Adolescente , Cuidado Transicional/organização & administração , Adulto Jovem , Incontinência Fecal/terapia , Incontinência Fecal/etiologia , Transição para Assistência do Adulto , Estudos Retrospectivos , Estudos de Coortes , Inquéritos e QuestionáriosRESUMO
PURPOSE: National data from the United Kingdom reported in 2016 have suggested that almost one quarter of babies with anorectal malformation (ARM) have a delay in diagnosis. The UK's Newborn Infant Physical Examination dictates a perineal examination should be performed within 72 h of birth. We sought to describe a tertiary single-centre experience of late presentation in the most recent 5 years. METHODS: A single-centre prospective registry of ARM patients (July 2018-March 2024) was analysed. Timing of presentation with anomaly was noted. Patients presenting > 72 h or having been discharged home were defined as a delayed diagnosis. Factors associated with delayed diagnosis were noted. RESULTS: Sixty patients were included, of whom nine (15%) were diagnosed after 72 h [range 4-279 days]. This represents a non-significant improvement compared to 39/174 (22%) late diagnosed cases in the BAPS-CASS cohort from 2016 to 17 (p = 0.188). Presenting symptoms of obstruction (i.e. distension, vomiting, megarectum) were more common in late diagnosed patients (4/9 (44%) vs. 1/51(2%); p = 0.001). Anomalies producing meconium on the perineum were more likely to be diagnosed late (8/32 (25%) vs 1/28 (4%); p = 0.029). Complications and changes to clinical management for these cases are presented. CONCLUSION: Although our regional rates of late diagnosis appear to be lower than previously reported national rates, there remains a significant number of infants who are diagnosed late especially those with visible perineal openings. These infants are more commonly symptomatic; entraining additional risks associated with an emergency presentation.
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Malformações Anorretais , Diagnóstico Tardio , Humanos , Diagnóstico Tardio/estatística & dados numéricos , Malformações Anorretais/diagnóstico , Recém-Nascido , Feminino , Masculino , Reino Unido , Estudos Prospectivos , Lactente , Sistema de RegistrosRESUMO
PURPOSE: To identify markers of previous ovarian torsion and outline the outcomes according to US appearance and operative management. METHODS: A retrospective single-centre review of neonatal ovarian cysts from January 2000 to January 2020. Data on postnatal cyst size and sonographic features and operative treatment were co-related with outcomes of ovarian loss and histology. RESULTS: 77 females were included with 22 simple and 56 complex cysts, one patient had bilateral cysts. 9/22 (41%) simple cysts regressed spontaneously in a median of 13 weeks (8-17). Complex cysts regressed spontaneously less frequently, 7/56(12%, P = 0.01), in 13 weeks (7-39). 38/56 (68%) complex and 12/22 (55%) simple cysts were treated operatively. 21/22 (95%) ovaries with initially simple cyst were salvaged compared to 20/56(36%) with initially complex cyst (P < 0.001). A fluid-debris level in 23/26 complex cysts was most associated with ovarian loss (P = 0.0006). Presence of viable ovarian stromal tissue was seen in 8/20 (40%) excised specimens during ovarian sparing procedures and in 5/30 (17%) oophorectomies for necrotic appearing ovaries. CONCLUSIONS: Fluid-debris level on US is significantly associated with ovarian loss likely due to previous torsion. Simple cysts are viable and often regress spontaneously. The finding of viable ovarian stromal tissue in resected specimens supports attempting ovarian preservation wherever possible.
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Cistos Ovarianos , Ultrassonografia Pré-Natal , Gravidez , Recém-Nascido , Feminino , Humanos , Estudos Retrospectivos , Cistos Ovarianos/cirurgiaRESUMO
OBJECTIVES: To calculate 3D-segmented total lung volume (TLV) in fetuses with thoracic anomalies using deformable slice-to-volume registration (DSVR) with comparison to 2D-manual segmentation. To establish a normogram of TLV calculated by DSVR in healthy control fetuses. METHODS: A pilot study at a single regional fetal medicine referral centre included 16 magnetic resonance imaging (MRI) datasets of fetuses (22-32 weeks gestational age). Diagnosis was CDH (n = 6), CPAM (n = 2), and healthy controls (n = 8). Deformable slice-to-volume registration was used for reconstruction of 3D isotropic (0.85 mm) volumes of the fetal body followed by semi-automated lung segmentation. 3D TLV were compared to traditional 2D-based volumetry. Abnormal cases referenced to a normogram produced from 100 normal fetuses whose TLV was calculated by DSVR only. RESULTS: Deformable slice-to-volume registration-derived TLV values have high correlation with the 2D-based measurements but with a consistently lower volume; bias -1.44 cm3 [95% limits: -2.6 to -0.3] with improved resolution to exclude hilar structures even in cases of motion corruption or very low lung volumes. CONCLUSIONS: Deformable slice-to-volume registration for fetal lung MRI aids analysis of motion corrupted scans and does not suffer from the interpolation error inherent to 2D-segmentation. It increases information content of acquired data in terms of visualising organs in 3D space and quantification of volumes, which may improve counselling and surgical planning.
Assuntos
Feto , Imageamento por Ressonância Magnética , Feminino , Feto/diagnóstico por imagem , Idade Gestacional , Humanos , Imageamento Tridimensional/métodos , Pulmão/diagnóstico por imagem , Medidas de Volume Pulmonar/métodos , Imageamento por Ressonância Magnética/métodos , Projetos Piloto , GravidezRESUMO
OBJECTIVES: Open primary balloon gastrostomy (PBG) presents a potential alternative to percutaneous endoscopic gastrostomy (PEG) in children as it obviates the need for change under general anaesthetic; however, the complication profile of PBG compared to PEG is not well defined. Previous series comparing the two have been hampered by the groups not being equivalent. Our paediatric surgical centre has offered PBG as an alternative PEG since 2014. We used a matched case-control study to compare outcomes for PBG and PEG. METHODS: Patients undergoing PBG were used as "cases" and matched 1:3 by age and diagnosis to patients undergoing PEG, demographics, and clinical data as "controls." Primary outcome was rate of complications classified according to Clavien-Dindo (I-V). Secondary outcomes included time to feed and length of stay. Non-parametric, categorical and multivariate logistic regression analyses were performed. Data here presented as median with interquartile range (IQR). RESULTS: We included 140 patients (35 PBG:105 PEG). The 2 groups were comparable for sex, weight at surgery, and follow-up duration. Median operative time was longer for PBG (43âmin [IQR 36.5-61.5] vs 27.5âmin [18.25-47.75], Pâ<â0.001). Multivariate analysis demonstrated a statistically significant, higher incidence of symptomatic granulation tissue in PBG (10 [29%] vs 6 [6%], Pâ=â0.0008), this remained significant on multivariate analysis (OR 7.56 [2.33-23.5], Pâ=â0.001), no other complication remained significant. The overall complication rate was not statistically different. CONCLUSIONS: PBG and PEG have similar overall complication rates; however, PBG appears to have a higher incidence of granulation tissue. This observation must be weighed against the need for further general anaesthetic which is not insignificant in medically complex children.
Assuntos
Gastrostomia , Laparoscopia , Estudos de Casos e Controles , Criança , Gastrostomia/efeitos adversos , Humanos , Incidência , Duração da Cirurgia , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/etiologia , Estudos RetrospectivosRESUMO
This study describes functional and health-related quality of life (HRQoL) outcomes in patients with Hirschsprung's disease (HSCR) with associated learning disability or neurodevelopmental delay (LD), completing a core outcome set for HSCR. This was a cross-sectional study from a tertiary pediatric surgery center. Patients treated between 1977 and 2013 were prospectively contacted to complete an outcomes survey. Children under 12 and older patients with LD were assisted to complete these by a proxy. Bowel and urologic function were assessed (Rintala's BFS and modified DanPSS) along with HRQoL (PedsQL/GIQLI/SF-36). Thirty-two patients with LD were compared to 186 patients with normal cognition. Patients with LD had 76% survival over the follow-up period, compared to 99% in the remainder of the cohort. Poor functional outcomes were common in the patients with LD, considerably higher than cognitively normal patients: with weekly issues withholding stool, soiling and fecal accidents in over half of patients surveyed (44-60%), and urinary incontinence in 46%. Use of permanent stoma was significantly higher (22% vs. 4%; p = 0.001). HRQoL was worse in domains of physical functioning in adults and children but not for social or emotional domains in adults. Subgroup analysis of patients with Down syndrome suggested similar functional results but better QoL. Multivariate analysis demonstrated a dramatically higher incidence of poor continence outcomes in patients with LD (adjusted OR 9.6 [4.0-23]).Conclusions: We provide LD-specific outcomes showing inferior function but similar HRQoL to other patients with HSCR, this is much needed in the counselling of families of these children. What is Known: ⢠Hirschsprung's disease is commonly associated with syndromes or other anomalies with resultant cognitive impairments. ⢠The outcomes for these patients specifically have been poorly described in the literature. What is New: ⢠Objective functional and quality of life surveys demonstrate significant differences from patients without cognitive impairment. ⢠Patients with learning disability Patients with associated LD were almost ten times more likely to have an associated poor functional outcome, with very little impact on proxy-reported quality of life.
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Doença de Hirschsprung , Deficiências da Aprendizagem , Adulto , Criança , Estudos Transversais , Doença de Hirschsprung/complicações , Humanos , Deficiências da Aprendizagem/epidemiologia , Deficiências da Aprendizagem/etiologia , Qualidade de Vida , Inquéritos e QuestionáriosRESUMO
Endovascular repair has become the most frequent approach in the management of the ruptured infra-renal abdominal aorta aneurysm. When managing the ruptured patient with a significant retroperitoneal hematoma, abdominal compartment syndrome is often a consideration. Duodenal obstruction from the hematoma is rare and not typically a consideration. In the case of our patient, the intra-abdominal pressures were successfully managed conservatively. The large retroperitoneal hematoma, however, encased and obstructed the duodenum ultimately requiring a gastrojejunostomy. Similar rare cases of duodenal obstruction have been reported after open aortic repairs. We have not identified other cases in the literature of duodenal obstruction after endovascular management of a ruptured abdominal aorta aneurysm. We want to raise awareness to the possibility. In our opinion, conservative management would still be the preferred course of action, even if surgical management was ultimately required for the duodenal obstruction, as it reduces the initial insult in the patient with the aneurysmal rupture.
Assuntos
Aneurisma da Aorta Abdominal/cirurgia , Ruptura Aórtica/cirurgia , Implante de Prótese Vascular/efeitos adversos , Obstrução Duodenal/etiologia , Procedimentos Endovasculares/efeitos adversos , Hematoma/etiologia , Aneurisma da Aorta Abdominal/diagnóstico por imagem , Ruptura Aórtica/diagnóstico por imagem , Obstrução Duodenal/diagnóstico por imagem , Obstrução Duodenal/cirurgia , Feminino , Derivação Gástrica , Hematoma/diagnóstico por imagem , Humanos , Pessoa de Meia-Idade , Espaço Retroperitoneal , Resultado do TratamentoRESUMO
INTRODUCTION: access to water at the bedside is a cornerstone of patient care. Among bedbound inpatients, water within reach at the bedside is a basic human dignity and one that ought not to be neglected. AIM: the authors sought to identify the extent to which accessible hydration facilities were provided to a bedbound inpatient population. METHODS: a cross-sectional, point-prevalent audit of hospitalised medical inpatients across five centres was conducted. Data were collected between meal times and noted baseline demographics and admission details, adequacy of oral hydration provision at the bedside and, where provision was inadequate, factors associated with this. RESULTS: across a total surveyed patient population of 559 we identified 138 patients who were bedbound. Among these bedbound patients, 6% (n=8) had no water provided at the bedside. However, 7 of these were deemed to be unable to swallow safely. In total, 44 (32%) of the 138 bedbound patients were unable to reach the water at their bedside; 18 of these patients would have been able to drink for themselves had the water been in reach. CONCLUSION: there is significant room for improvement in ensuring patients who are immobile are able to reach drinking apparatus at the bedside. In the five centres surveyed, approximately one in five bedbound patients with no contraindication are unable to reach an essential means of hydration.
Assuntos
Auditoria Clínica , Desidratação/prevenção & controle , Água Potável , Hospitalização , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Estudos Transversais , Inglaterra , Feminino , Hospitais Gerais , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Medicina Estatal , Adulto JovemRESUMO
OBJECTIVE: Management of long gap esophageal atresia (LGOA) is controversial. This study aims at comparing the management of LGOA between two high-volume centers. METHODS: We included patients with LGOA (type A and B) between 2008 and 2022. Demographics, surgical methods, and outcomes were collected and compared. RESULTS: The study population involved 28 patients in center A and 24 patients in center B. A surgical approach was thoracoscopic in center A, only for one patient was open for final procedure. In center B, 3 patients were treated only thoracoscopically, 2 converted to open, and 19 as open surgery. In center A primary esophageal anastomosis concerned 1 case, two-staged esophageal lengthening using external traction 1 patient, and 26 were treated with the multistaged internal traction technique. In 24 patients a full anastomosis was achieved: in 23 patients only the internal traction technique was used, while 1 patient required open Collis-Nissen procedure as final management. In center B primary anastomosis was performed in 7 patients, delayed esophageal anastomosis in 8 patients, esophageal lengthening using external traction in 1 case, and 9 infants required esophageal replacement with gastric tube. Analyzed postoperative complications included: early mortality, 2/28 due to accompanied malformations (center A) and 0/24 (center B); anastomotic leakage, 4/26 (center A) treated conservatively-all patients had a contrast study-and 0/24 (center B), 1 case of pleural effusion, but no routine contrast study; recurrent strictures, 13/26 (center A) and 7/15 (center B); and need for fundoplication, 5/26 (center A) and 2/15 (center B). Age at esophageal continuity was as a median of 31 days in center A and 110 days in center B. Median time between initial procedure and esophageal anastomosis was 11 days in center A and 92 days in center B. CONCLUSION: Thoracoscopic internal traction technique reduces time to achieve esophageal continuity and the need for esophageal substitution while maintaining a similar early complication rate.
Assuntos
Atresia Esofágica , Lactente , Humanos , Atresia Esofágica/complicações , Tração/métodos , Resultado do Tratamento , Fístula Anastomótica/etiologia , Anastomose Cirúrgica/efeitos adversosRESUMO
AIM OF THE STUDY: Neonatal enterostomy is a known risk for growth failure. We hypothesized that episodes of inflammation may drive a catabolic state, exploring this by assessing serum biochemistry alongside growth trajectory in enterostomy patients. METHODS: A retrospective analysis of infants with histologically confirmed NEC from 01/2012-07/2021 in a tertiary neonatal surgical centre was performed. Change in weight-for-age Z-score (ΔZ) between stoma formation and closure was calculated. Serum CRP (C-reactive protein), urea, and creatinine levels were recorded and duration of elevated levels calculated as Area Under Curve (AUC). We examined for trends of serum levels rising together using intersecting moving averages. Spearman's correlation analysis was performed, while multivariable linear regression examined factors associated with ΔZ. RESULTS: 79 neonates were included. At stoma formation, median Z-score was -1.42 [range -4.73, +1.3]. Sixty-two patients (78 %) had a fall in Z-score during their time with a stoma, 16 (20 %) had a ΔZ less than -2. Urea AUC was significantly univariably correlated with ΔZ and remained statistically significant in a multivariable model (Exp(B) x 100 = -0.57[-1, -0.09]; p = 0.022). The number of biomarker peaks correlated significantly with ΔZ for urea (r = -0.25; p = 0.025) and CRP (r = -0.35; p = 0.0017) but not Creatinine (r = -0.21; p = 0.066). Analysing the number of peaks of any combination of variables coinciding was consistently significantly correlated negatively with ΔZ (r = -0.29 to -0.27; p ≤ 0.016 for all). CONCLUSION: Our data shows that infants who were more severely affected by growth failure had more frequent and severe uremia while they had a stoma (suggesting a catabolic state). Disturbances in urea were commonly associated with CRP, suggesting that inflammation is a significant factor in growth failure in these infants. These findings promote aggressive management of sepsis in these infants, as well as suggesting an earlier closure of stoma to minimise their "at-risk"' period.
Assuntos
Enterocolite Necrosante , Enterostomia , Estomas Cirúrgicos , Recém-Nascido , Lactente , Humanos , Estudos Retrospectivos , Insuficiência de Crescimento/etiologia , Inflamação , Ureia , Enterocolite Necrosante/cirurgiaRESUMO
AIMS: Controversy persists regarding operative strategy for necrotising enterocolitis (NEC). Some surgeons advocate resecting all necrotic bowel, whilst others defunction with a stoma, leaving diseased bowel in situ to preserve bowel length. We reviewed our institutional experience of both approaches. METHODS: Neonates undergoing laparotomy for NEC May 2015-2019 were identified. Data extracted from electronic records included: demographics, neonatal Sequential Organ Failure Assessment (nSOFA) score at surgery, operative findings, and procedure performed. Neonates were assigned to two groups according to operative strategy: complete resection of necrotic bowel (CR) or necrotic bowel left in situ (LIS). Primary outcome was survival, and secondary outcome was enteral autonomy. Outcomes were compared between groups. RESULTS: Fifty neonates were identified. Six were excluded: 4 with NEC totalis and 2 with no visible necrosis or histological confirmation of NEC. Of the 44 remaining neonates, 27 were in the CR group and 17 in the LIS group. 32 neonates survived to discharge (73%). On univariate analysis, survival was associated with lower nSOFA score (P = 0.003), complete resection of necrotic bowel (OR 9.0, 95% CI [1.94-41.65]), and being born outside the surgical centre (OR 5.11 [1.23-21.28]). On Cox regression multivariate analysis, complete resection was still strongly associated with survival (OR 4.87 [1.51-15.70]). 28 of the 32 survivors (88%) achieved enteral autonomy. There was no association between operative approach and enteral autonomy (P = 0.373), or time to achieve this. CONCLUSION: Complete resection of necrotic bowel during surgery for NEC significantly improves likelihood of surviving without negatively impacting remaining bowel function. LEVEL OF EVIDENCE: III.
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Enterocolite Necrosante , Doenças do Recém-Nascido , Enteropatias , Humanos , Recém-Nascido , Doenças do Recém-Nascido/cirurgia , Enteropatias/complicações , Intestino Delgado/cirurgia , Intestinos/cirurgia , Intestinos/patologia , Laparotomia/métodos , Estudos RetrospectivosRESUMO
BACKGROUND: This study describes the presentation and initial management of anorectal malformation (ARM); evaluating the frequency, causes and consequences of late diagnosis. METHODS: A prospective, population cohort study was undertaken for newly diagnosed ARMs in the UK and Ireland from 01/10/2015 and 30/09/2016. Follow-up was completed at one year. Data are presented as n (%), appropriate statistical methods used. Factors associated with late diagnosis; defined as: detection of ARM either following discharge or more than 72 h after birth were assessed with univariable logistic regression. RESULTS: Twenty six centres reported on 174 cases, 158 of which were classified according to the type of malformation and 154 had completed surgical data. Overall, perineal fistula was the most commonly detected anomaly 43/158 (27%); of the 41 of these children undergoing surgery, 15 (37%) had a stoma formed. 21/154 (14%, CI95{9-20}) patients undergoing surgery experienced post-operative complications. Thirty-nine (22%) were diagnosed late and 12 (7%) were detected >30 days after birth. Factors associated with late diagnosis included female sex (OR 2.06; 1.0-4.26), having a visible perineal opening (OR 2.63; 1.21-5.67) and anomalies leading to visible meconium on the perineum (OR 18.74; 2.47-141.73). 56/174 (32%) had a diagnosis of VACTERL association (vertebral, anorectal, cardiac, tracheal, oesophageal, renal and limb); however, not all infants were investigated for commonly associated anomalies. 51/140 (36%) had a cardiac anomaly detected on echocardiogram. CONCLUSION: There is room for improvement within the care for infants born with ARM in the UK and Ireland. Upskilling those performing neonatal examination to allow timely diagnosis, instruction of universal screening for associated anomalies and further analysis of the factors leading to clinically unnecessary stoma formation are warranted. LEVEL OF EVIDENCE: II (Prospective Cohort Study <80% follow-up).
Assuntos
Malformações Anorretais , Diagnóstico Tardio , Humanos , Irlanda/epidemiologia , Feminino , Recém-Nascido , Masculino , Reino Unido/epidemiologia , Malformações Anorretais/diagnóstico , Malformações Anorretais/cirurgia , Malformações Anorretais/epidemiologia , Estudos Prospectivos , Diagnóstico Tardio/estatística & dados numéricos , Canal Anal/anormalidades , Canal Anal/cirurgia , Reto/anormalidades , Reto/cirurgia , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/diagnóstico , Seguimentos , Traqueia/anormalidades , Traqueia/cirurgia , Anus Imperfurado/cirurgia , Anus Imperfurado/diagnóstico , Lactente , Esôfago/anormalidades , Esôfago/cirurgia , Deformidades Congênitas dos Membros/diagnóstico , Deformidades Congênitas dos Membros/cirurgia , Deformidades Congênitas dos Membros/epidemiologia , Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/cirurgia , Rim/anormalidades , Coluna Vertebral/anormalidadesRESUMO
Isolation of tissue-specific fetal stem cells and derivation of primary organoids is limited to samples obtained from termination of pregnancies, hampering prenatal investigation of fetal development and congenital diseases. Therefore, new patient-specific in vitro models are needed. To this aim, isolation and expansion of fetal stem cells during pregnancy, without the need for tissue samples or reprogramming, would be advantageous. Amniotic fluid (AF) is a source of cells from multiple developing organs. Using single-cell analysis, we characterized the cellular identities present in human AF. We identified and isolated viable epithelial stem/progenitor cells of fetal gastrointestinal, renal and pulmonary origin. Upon culture, these cells formed clonal epithelial organoids, manifesting small intestine, kidney tubule and lung identity. AF organoids exhibit transcriptomic, protein expression and functional features of their tissue of origin. With relevance for prenatal disease modeling, we derived lung organoids from AF and tracheal fluid cells of congenital diaphragmatic hernia fetuses, recapitulating some features of the disease. AF organoids are derived in a timeline compatible with prenatal intervention, potentially allowing investigation of therapeutic tools and regenerative medicine strategies personalized to the fetus at clinically relevant developmental stages.
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Hérnias Diafragmáticas Congênitas , Gravidez , Feminino , Humanos , Hérnias Diafragmáticas Congênitas/metabolismo , Líquido Amniótico/metabolismo , Cuidado Pré-Natal , Pulmão/metabolismo , Organoides/metabolismoRESUMO
Effective collection of trace-level lanthanides and actinides is advantageous for recovery and recycling of valuable resources, environmental remediation, chemical separations, and in situ monitoring. Using isotopic tracers, we have evaluated a number of conventional and nanoporous sorbent materials for their ability to capture and remove selected lanthanides (Ce and Eu) and actinides (Th, Pa, U, and Np) from fresh and salt water systems. In general, the nanostructured materials demonstrated a higher level of performance and consistency. Nanoporous silica surface modified with 3,4-hydroxypyridinone provided excellent collection and consistency in both river water and seawater. The MnO(2) materials, in particular the high surface area small particle material, also demonstrated good performance. Other conventional sorbents typically performed at levels below the nanostructured sorbents and demonstrate a larger variability and matrix dependency.
Assuntos
Elementos da Série Actinoide/análise , Recuperação e Remediação Ambiental/métodos , Elementos da Série dos Lantanídeos/análise , Nanoestruturas/química , Poluentes Químicos da Água/análise , Poluentes Radioativos da Água/análise , Elementos da Série Actinoide/química , Adsorção , Elementos da Série dos Lantanídeos/química , Rios/química , Água do Mar/química , Poluentes Químicos da Água/química , Poluentes Radioativos da Água/químicaRESUMO
An improved synthesis of a 3,4 hydroxypyridinone (HOPO) functionalized mesoporous silica is described. Higher 3,4-HOPO monolayer ligand loadings have been achieved, resulting in better performance. Performance improvements were demonstrated with the capture of U(VI) from human blood, plasma and filtered river water.
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In vivo rodent behavioral and physiological studies often benefit from measurement of general activity. However, many existing instruments necessary to track such activity are high in cost and invasive within home cages, some even requiring extensive separate cage systems, limiting their widespread use to collect data. We present here a low-cost open-source alternative that measures voluntary wheel running activity and allows for modulation and customization, along with a reproducible and easy to set-up code pipeline for setup and analysis in Arduino IDE and R. Our robust, non-invasive scalable voluntary running activity tracker utilizes readily accessible magnets, Hall effect sensors, and an Arduino microcontroller. Importantly, it can interface with existing rodent home cages and wheel equipment, thus eliminating the need to transfer the mice to an unfamiliar environment. The system was validated both for accuracy by a rotating motor used to simulate mouse behavior, and in vivo. Our recorded data is consistent with results found in the literature showing that the mice run between 3 to 16 kilometers per night, and accurately captures speed and distance traveled continuously on the wheel. Such data are critical for analysis of highly variable behavior in mouse models and allow for characterization of behavioral metrics such as general activity. This system provides a flexible, low-cost methodology, and minimizes the cost, infrastructure, and personnel required for tracking voluntary wheel activity.
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Atividade Motora , Roedores , Animais , Modelos Animais de Doenças , Camundongos , Atividade Motora/fisiologiaRESUMO
AIMS: We sought to assess variability and concordance between fetal MRI and ultrasound (USS) in the evaluation of fetal body abnormalities. METHODS: All fetal body anomalies reported on F-MRI within the iFIND database (http://www.ifindproject.com) were included. Differences in findings regarding anomalies on contemporaneous USS were explored. Three clinical specialists evaluated each case independently, and the anomaly severity was graded: as "insignificant" to "lethal". The value of MRI in alteration of either antenatal or postnatal care was established. RESULTS: Fifty-four cases were identified consisting of 5 healthy controls, 37 with USS-identified body anomalies, and 12 with known CNS or cardiac anomalies. In fetuses with a known body anomaly, information on the MRI was relevant to change the clinical course in 59% of cases. There was also an incidental detection rate of 7% in fetuses with known cardiac or CNS anomalies, or 1.5% of normal control, although these were rarely clinically relevant. Importantly, fetuses undergoing MRI for cardiac concerns did have major anomalies that were missed (one case of oesophageal atresia and two cases of ARM). CONCLUSIONS: In cases where fetal anomalies are suspected, F-MRI is a valuable means of further characterizing anomalies and may detect additional anomalies in fetuses with recognized cardiac or CNS anomalies. In fetuses with a recognized body anomaly, more than half of those scanned by MRI had information available which changed clinical management. Importantly there were also incidental findings in healthy control fetuses, so the management of these needs to be recognized in fetal MRI research. LEVEL OF EVIDENCE: II, Prospective cohort study.
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Diagnóstico Pré-Natal , Ultrassonografia Pré-Natal , Feminino , Feto/diagnóstico por imagem , Humanos , Imageamento por Ressonância Magnética , Gravidez , Estudos ProspectivosRESUMO
BACKGROUND: There are limited data available to compare outcomes between surgical approaches for Hirschsprung's disease. Duhamel and endorectal pull-through (ERPT) are two of the most common procedures performed worldwide. METHODS: Objective outcomes were compared between contemporary cohorts (aged 4-32â years) after Duhamel or ERPT using case-control methodology. Data were collected using prospectively administered standardized questionnaires on bowel and bladder function and quality of life (Pediatric Quality of Life Inventory, Short form 36 and Gastrointestinal Quality of Life Index). Patients were compared in two age groups (18 years and younger and older than 18â years) and reference made to normative control data. Multivariable analysis explored factors associated with poor outcomes. RESULTS: Cohorts were well matched by demographics, disease characteristics and incidence of postoperative complications (120 patients who underwent Duhamel versus 57 patients who had ERPT). Bowel function scores were similar between groups. Patients who underwent Duhamel demonstrated worse constipation and inferior faecal awareness scores (P < 0.01 for both age groups). Recurrent postoperative enterocolitis was significantly more common after ERPT (34 versus 6 per cent; odds ratio 15.56 (95 per cent c.i. 6.19 to 39.24; P < 0.0001)). On multivariable analysis, poor bowel outcome was the only factor significantly associated with poor urinary outcome (adjusted odds ratio 6.66 (95 per cent c.i. 1.74 to 25.50; P = 0.006)) and was significantly associated with markedly reduced quality of life (QoL) in all instruments used (P < 0.001 for all). There were no associations between QoL measures and pull-through technique. CONCLUSION: Outcomes from Duhamel and ERPT are good in the majority of cases, with comparable bowel function scores. Constipation and impaired faecal awareness were more prevalent after Duhamel, with differences sustained in adulthood. Recurrent enterocolitis was significantly more prevalent after ERPT. Clustering of poor QoL and poor functional outcomes were observed in both cohorts, with seemingly little effect by choice of surgical procedure in terms of QoL.
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Enterocolite , Doença de Hirschsprung , Adolescente , Adulto , Criança , Pré-Escolar , Estudos de Coortes , Enterocolite/etiologia , Enterocolite/cirurgia , Doença de Hirschsprung/cirurgia , Humanos , Qualidade de Vida , Reto/cirurgia , Adulto JovemRESUMO
Biliary atresia (BA) is a chronic neonatal cholangiopathy characterized by fibroinflammatory bile duct damage. Reliable biomarkers for predicting native liver survival (NLS) following portoenterostomy (PE) surgery are lacking. Herein we explore the utility of 22 preidentified profibrotic molecules closely connected to ductular reaction (DR) and prevailing after successful PE (SPE), in predicting PE outcomes and liver injury. We used qPCR and immunohistochemistry in a BA cohort including liver samples obtained at PE (n = 53) and during postoperative follow-up after SPE (n = 25). Of the 13 genes over-expressed in relation to cholestatic age-matched controls at PE, only secretin receptor (SCTR) expression predicted cumulative 5-year NLS and clearance of jaundice. Patients in the highest SCTR expression tertile showed 34-55% lower NLS than other groups at 1-5 years after PE (P = 0.006-0.04 for each year). SCTR expression was also significantly lower [42 (24-63) vs 75 (39-107) fold, P = 0.015] among those who normalized their serum bilirubin after PE. Liver SCTR expression localized in cholangiocytes and correlated positively with liver fibrosis, DR, and transcriptional markers of fibrosis (ACTA2) and cholangiocytes (KRT7, KRT19) both at PE and after SPE. SCTR is a promising prognostic marker for PE outcomes and associates with liver injury in BA.