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1.
Perspect Med Educ ; 11(2): 86-92, 2022 03.
Artículo en Inglés | MEDLINE | ID: mdl-34694570

RESUMEN

INTRODUCTION: Relatively little is known about faculty development (FD) activities that help participants achieve sustainable behavioral change. This qualitative study evaluated the medium- to long-term impact of a FD workshop informed by transformative learning (TL) theory. It aimed to discover which aspects of FD prompted healthcare professionals (HPs) to adopt effective teaching and learning practices. METHODS: Seventeen participants were interviewed between January and July 2020, 7 to 30 months after the workshop. Purposeful sampling strategies were used to collect data and analysis was performed using reflexive thematic analysis. RESULTS: Four themes were identified: perspectival shift in educational practice, re-affirmation of current practices, becoming an educator, and valuing FD that accommodates HPs' multiple communities of practice (CoPs). Workshop activities foregrounding critical discourse and reflection helped participants gain new knowledge and deeper understanding of education. TL was likely when participants already identified as an educator in addition to their HP identity. Additionally, a workplace CoP determined the type and level of support affecting HPs' development as educators. DISCUSSION: Aspects of FD that prompted HPs to adopt effective teaching and learning practices included initiatives that catalyzed critical discourse and reflection. Readiness for TL is promoted when HPs have a strong educator identity because of workplace educator CoPs. Future research could explore effecting sustainable post-workshop behavioral change in HPs through the strengthening of workplace educator CoPs. To do this, institutions could send co-located HPs from different disciplines to the same FD program.


Asunto(s)
Educación Médica , Docentes , Humanos , Aprendizaje , Desarrollo de Programa , Investigación Cualitativa
2.
Eur J Med Genet ; 63(2): 103652, 2020 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-30986546

RESUMEN

Meier-Gorlin syndrome (MGS) is a rare autosomal recessive disorder characterized by the triad of short stature, microtia and absent or small patellae. We report on a patient with MGS secondary to biallelic mutations in CDC45 detected on whole exome sequencing (WES). Patients with MGS caused by mutations in CDC45 display a distinct phenotype characterized by craniosynostosis and anorectal malformation. Our patient had craniosynostosis, anorectal malformation and short stature, but did not have the microtia or patella hypoplasia. Our report also highlights the value of WES in aiding diagnosis of patients with rare genetic diseases. In conclusion, our case report and review of the literature illustrates the unique features of CDC45-related MGS as well as the benefits of WES in reducing the diagnostic odyssey for patients with rare genetic disorders.


Asunto(s)
Proteínas de Ciclo Celular/genética , Microtia Congénita/diagnóstico , Microtia Congénita/genética , Trastornos del Crecimiento/diagnóstico , Trastornos del Crecimiento/genética , Micrognatismo/diagnóstico , Micrognatismo/genética , Rótula/anomalías , Anomalías Múltiples/genética , Anomalías Múltiples/fisiopatología , Malformaciones Anorrectales/genética , Malformaciones Anorrectales/fisiopatología , Craneosinostosis/genética , Craneosinostosis/fisiopatología , Femenino , Trastornos del Crecimiento/congénito , Humanos , Mutación , Fenotipo , Enfermedades Raras/genética , Enfermedades Raras/fisiopatología , Secuenciación del Exoma
3.
BMJ Case Rep ; 12(8)2019 Aug 28.
Artículo en Inglés | MEDLINE | ID: mdl-31466956

RESUMEN

A 55-day-old boy was transferred to our unit with intestinal obstruction and obstructive jaundice after two neonatal operations for duodenal atresia and intestinal malrotation. Abdominal ultrasound showed dilated intrahepatic and extrahepatic ducts with cut-off at the distal common bile duct (CBD). He underwent emergency laparotomy for adhesive intestinal obstruction with a contained abscess from mid-jejunal perforation. Biliary dissection was not attempted due to poor preoperative nutritional status. Tube cholecystostomy was created for biliary decompression. Postoperative magnetic resonance cholangiopancreatography showed dilated CBD with cut-off at the ampulla but did not demonstrate pancreaticobiliary maljunction (PBMJ). The diagnostic dilemma was whether our patient had congenital PBMJ or had developed biliary stricture from perioperative ischaemic scarring. He underwent definitive surgery at 7 months: excision of dilated CBD with Roux-en-Y hepaticojejeunal reconstruction, excisional tapering duodenoplasty and jejunostomy creation. Intraoperative finding was type I choledochal cyst and subsequently confirmed on histology. Postoperative recovery was uneventful and bilirubin levels normalised.


Asunto(s)
Conducto Colédoco/diagnóstico por imagen , Obstrucción Duodenal/cirugía , Atresia Intestinal/cirugía , Obstrucción Intestinal/cirugía , Ictericia Obstructiva/cirugía , Pancreatocolangiografía por Resonancia Magnética , Conducto Colédoco/cirugía , Diagnóstico Diferencial , Humanos , Lactante , Obstrucción Intestinal/diagnóstico por imagen , Ictericia Obstructiva/diagnóstico por imagen , Laparotomía , Masculino , Mala Unión Pancreaticobiliar/diagnóstico por imagen , Mala Unión Pancreaticobiliar/cirugía , Reoperación/efectos adversos , Resultado del Tratamiento , Ultrasonografía
4.
J Pediatr Urol ; 14(1): 51.e1-51.e7, 2018 02.
Artículo en Inglés | MEDLINE | ID: mdl-28927720

RESUMEN

INTRODUCTION: Congenital pelviureteric junction obstruction (PUJO) is one of the most frequent causes of neonatal hydronephrosis. Obstruction at the PUJ has potential severe adverse outcomes, such as renal damage. While pyeloplasty has been established as the definitive treatment, the exact pathophysiology of congenital PUJO remains unknown. Recent research has proposed neuronal innervation defects as an etiological factor in congenital PUJO. We aim to study the expression of various neuronal markers in PUJO specimens compared with controls, and evaluate whether severity of renal disease or dysfunction pre-operatively is related to expression of neuronal markers in resected PUJO specimens. MATERIALS AND METHODS: All consecutive patients who underwent dismembered pyeloplasty at KK Women's and Children's Hospital, Singapore, for intrinsic PUJO from 2008 to 2012 were included. Patients with other co-occurring renal pathologies were excluded. Controls were obtained from nephrectomy patients with Wilm's tumor or other benign renal conditions during the same period. Specimens were stained immunohistochemically with neuronal markers protein gene product 9.5 (PGP9.5), synaptophysin, and S-100, and with CD-117, a marker for interstitial cells of Cajal (Table). Levels of expression of the markers were assessed semiquantitatively (decreased, increased or no change) in comparison with controls by two independent observers. Pre-operative data of patients' renal anatomical (ultrasonography measurements of renal pelvis size) and functional parameters (differential renal function measured using MAG-3 renal scans) were obtained. DISCUSSION: Thirty-eight PUJO specimens (38 renal units) and 20 controls were studied. Mean patient age at pyeloplasty was 25.3 months (2.9-167.6 months). Median pre-operative pelvic size was 25.0 mm (17.0-50.0 mm). Both PUJO specimens and controls showed great heterogeneity in distribution of innervation. All four immunohistochemical markers were not predictive of significant pre-operative renal pelvis dilation or pre-operative diminished renal function of the operated kidney. CONCLUSIONS: There exists marked variability in expression of neuronal markers synaptophysin, PGP9.5, and S-100, and CD-117 in PUJO specimens compared with controls. Our results show no clinical significance of the expression of neuronal markers in predicting degree of pre-operative renal pelvis dilation or differential renal function. The heterogeneity of expression of neuronal markers in PUJO specimens and controls in our population is at variance with prior studies. The etiology of PUJO is likely to be complex and multifactorial.


Asunto(s)
Hidronefrosis/congénito , Pelvis Renal/cirugía , Riñón Displástico Multiquístico/etiología , Riñón Displástico Multiquístico/patología , Riñón Displástico Multiquístico/cirugía , Ubiquitina Tiolesterasa/metabolismo , Obstrucción Ureteral/etiología , Obstrucción Ureteral/patología , Obstrucción Ureteral/cirugía , Biomarcadores/metabolismo , Biopsia con Aguja , Estudios de Casos y Controles , Preescolar , Femenino , Humanos , Hidronefrosis/diagnóstico por imagen , Hidronefrosis/etiología , Hidronefrosis/patología , Hidronefrosis/cirugía , Inmunohistoquímica , Lactante , Laparoscopía/métodos , Masculino , Riñón Displástico Multiquístico/diagnóstico por imagen , Conducción Nerviosa , Valores de Referencia , Proteínas S100/metabolismo , Índice de Severidad de la Enfermedad , Sinaptofisina/metabolismo , Resultado del Tratamiento , Ultrasonografía Doppler , Obstrucción Ureteral/diagnóstico por imagen
5.
J Pediatr Surg ; 51(12): 2015-2020, 2016 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-27773360

RESUMEN

AIM: Our study aimed to compare the efficacy of two endoscopic techniques used for the correction of vesicoureteral reflux (VUR): subureteral transurethral injection (STING) and hydrodistension implantation technique (HIT). METHODS: A systematic review was conducted using MEDLINE, Google scholar, and Cochrane databases from 1984 to 2015. Meta-analysis of the selected studies was performed to compare the extent of reflux resolution following both techniques. RESULTS: Six observational studies met the inclusion criteria for content. These comprised 632 ureters treated by STING and 895 ureters treated by HIT procedure. All included studies utilized dextranomer/hyaluronic acid (Deflux) as the bulking agent. The overall resolution of VUR was significantly higher in HIT (82.5%) compared to STING (71.4%) [pooled odds ratio (OR)=0.54; 95% confidence interval (CI) 0.42-0.69; P<0.0001; I2=8%]. A subgroup analysis showed that HIT had better outcomes than STING for both lower grade (I-III) [OR=0.43; 95% CI 0.23-0.82; P=0.01; I2=0%] and high-grade VUR (IV-V) [OR=0.43; 95% CI 0.20-0.91; P=0.03; I2=0%]. However, there was no statistical difference in the requirement of additional injections between STING and HIT groups. CONCLUSION: HIT is superior to STING technique for resolution of VUR after Deflux injection. However, more randomized trials with longer follow-up are necessary to demonstrate the benefit of HIT compared to STING procedure. LEVEL OF EVIDENCE: Retrospective comparative studies - level III.


Asunto(s)
Materiales Biocompatibles/administración & dosificación , Endoscopía/métodos , Reflujo Vesicoureteral/cirugía , Dextranos/administración & dosificación , Humanos , Ácido Hialurónico/administración & dosificación , Inyecciones , Politetrafluoroetileno/administración & dosificación , Estudios Retrospectivos , Uréter
6.
J Pediatr Surg ; 51(8): 1255-61, 2016 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-26850908

RESUMEN

AIM: The role of ischemia in the pathogenesis of necrotizing enterocolitis (NEC) remains unclear. We used immunohistochemical markers of hypoxia to identify presence/absence of ischemia in NEC and spontaneous intestinal perforation (SIP) with clinical correlation. METHODS: Immunohistochemical staining was performed on 24 NEC and 13 SIP intestinal resection specimens using 2 hypoxia markers, hypoxia inducible factor 1α (HIF-1α) and glucose transporter 1 (GLUT1) and inflammatory markers, leukocyte common antigen (LCA) and myeloperoxidase. Ischemic score (0-6) from the sum of the HIF-1α and GLUT1 staining intensity grades was devised (positive ≥3). Inflammation was graded from the sum of LCA and myeloperoxidase grading. Relevant clinical information was obtained from hospital case records. RESULTS: Fourteen NEC specimens had positive ischemic score (4.6±1.2). The remaining 10 NEC (ischemic score 0.7±0.8) and all 13 SIP samples (ischemic score 0.5±0.5) were ischemic-negative. The ischemic-positive cases had classic NEC with multiple areas of bowel necrosis; were associated with later onset, enteral feeding and pneumatosis. In contrast, all ischemic-negative NEC were short-segment NEC with perforation. Their clinical profile was similar to the SIP cases with younger gestational age at birth, early onset, association with ibuprofen/indomethacin usage but not with feeding and pneumatosis. Ischemic scores are correlated with inflammation scores in mucosa but not submucosa. CONCLUSIONS: Ischemia as assessed with immunohistochemical markers HIF-1α and GLUT1, has a primary role in pathogenesis of classic NEC only, not in SIP or short-segment NEC with perforation. Better categorization of the different types of NEC can direct appropriate prevention and treatment strategies.


Asunto(s)
Enterocolitis Necrotizante/etiología , Isquemia/complicaciones , Edad de Inicio , Biomarcadores/análisis , Enterocolitis Necrotizante/cirugía , Transportador de Glucosa de Tipo 1/análisis , Humanos , Hipoxia/diagnóstico , Subunidad alfa del Factor 1 Inducible por Hipoxia/análisis , Inmunohistoquímica , Indometacina , Lactante , Recién Nacido , Perforación Intestinal/etiología , Intestinos/química , Intestinos/patología , Isquemia/diagnóstico
7.
J Pediatr Surg ; 50(12): 2051-5, 2015 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-26477755

RESUMEN

AIM: The aim of this study was to develop a new Children's Appendicitis Score (CAS) by combining 3 inflammatory markers and a set of predictors for suspected appendicitis in children. METHODS: 374 children aged 4-16years with suspicion of appendicitis were prospectively enrolled for the derivation cohort. Demographic characteristics, clinical features, laboratory, and histology data were collected. The outcome measure was the histological presence or absence of appendicitis. Backward logistic regression was employed to select predictors for construction of a score. Diagnostic performance of CAS was compared with the Pediatric Appendicitis Score (PAS) on a separate validation cohort. RESULTS: The combination of normal white blood cell count (WBC), neutrophil percentage, and C-reactive protein (CRP) had a 100% negative predictive value for appendicitis. We assigned 'coefficient A' as 'zero' when all triple markers were negative and 'one' when any one markers was positive. A second component of 6 predictors was identified for construction of the 'raw score': Localized right-lower-quadrant pain, generalized guarding, constant characteristic of pain, pain on percussion or coughing, WBC≥14000/L and CRP≥24g/L. CAS was generated by multiplying 'coefficient A' by 'raw score'. CONCLUSION: CAS is superior to PAS in ruling out appendicitis. Risk stratification of equivocal patients could guide the need for further diagnostic imaging examination.


Asunto(s)
Apendicitis/diagnóstico , Técnicas de Apoyo para la Decisión , Dolor Abdominal/etiología , Adolescente , Apendicitis/sangre , Apendicitis/complicaciones , Biomarcadores/sangre , Proteína C-Reactiva/metabolismo , Niño , Preescolar , Femenino , Humanos , Recuento de Leucocitos , Modelos Logísticos , Masculino , Valor Predictivo de las Pruebas , Estudios Prospectivos , Medición de Riesgo
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