Neonatal cholestasis and Niemann-pick type C disease: A literature review.

BACKGROUND: Neonatal cholestasis (NC) is one of the most serious diseases in newborns and infants and results from metabolic disorders, such as Niemann-Pick type C (NPC), among other causes. OBJECTIVE: We evaluated the incidence of NPC in our NC plus lysosomal storage disease (LSD) suspicious neonates and infants series. METHODS: The study included children (≤3 years old) with a history of NC together with a suspicion of LSD, referred from Spanish Hospitals during the period 2011-2020. Screening for NPC was done by plasma biomarker assay (chitotriosidase activity and 7-ketocholesterol), and Sanger sequencing for NPC1 and NPC2 genes. RESULTS: We screened NPC disease in 17 patients with NC plus organomegaly and that were LSD suspicious, finding 5 NPC patients (29.4%) and 2 carriers. CONCLUSIONS: Our results emphasize the need to study NPC when NC and visceral enlargement arise in a newborn or infant.

Metabolizing profile of the cytochrome pathway CYP2D6, CYP3A4 and the ABCB 1 transporter in Spanish patients affected by Gaucher disease.

Several therapeutic options are available for type 1 Gaucher disease (GD1), including enzymatic replacement therapy (ERT) and substrate reduction therapy (SRT). Eliglustat is a selective inhibitor of glucosylceramide synthase that is extensively metabolized by CYP2D6 and, to a lesser extent by CYP3A4; it is also an inhibitor of the P-gp transporter. The aim of this study is to evaluate the metabolizer profile of these cytochrome isoforms in 61 GD1 patients, and to analyze interferences with concomitant therapies. Patients were selected from the Spanish Gaucher Disease Registry considering clinical data, GBA genotype, severity score index, comorbidities, concomitant drugs, type and response to therapy and adverse effects. The polymorphisms of CYP2D6, CYP3A4 and three ABCB1 transporter variants were analyzed by Polymerase Chain Reaction (PCR). The most frequent metabolizer profile was extensive or intermediate for CYP2D6, extensive for CYP3A4*1B and CYP3A4*22 and normal activity for ABCB1. Correlations between metabolizer profile and other variables were analyzed by multiple regression study. Twenty-eight patients received ERT, 17 eliglustat and seven miglustat. Forty-two patients (68.8%) had associated diseases and 54.5% were taking daily concomitant medication. Nine patients under eliglustat therapy received concomitant drugs that interact with the CYPs and/or ABCB1, five of these did not reach therapeutic goals and three presented mild or moderate adverse effects (headache and gastrointestinal disorders). Detailed analysis in four patients with TTT haplotype, corresponding to lack of activity of the transporter, was performed. In order to apply personalized medicine and avoid interferences and adverse effects, the individual CYP metabolizer profile and transporter must be considered when choosing the concomitant medication and/or making dose adjustments.

Feasibility, tolerability, and safety of hysterosalpingo-foam sonography (hyfosy). multicenter, prospective Spanish study.

OBJECTIVE: To determine the feasibility,tolerability, and safety of the ultrasound assessment of tubal patency using foam as contrast. METHODS: This was a prospective multicenter study of 915 infertile nulliparous women scheduled for sonohysterosalpingography with foam instillation (HYFOSY) for tubal patency testing as a part of the fertility workup. Clinical and sonographic data were recorded into a web-shared database. Tubal patency, cervical catheterization, pain during the procedure and post-procedural complications were collected. Patients reported discomfort or pain experienced during the procedure with a visual analogue scale (VAS) score. RESULTS: Nine hundred fifteen women were included in the final analysis. Median age was 34 (range, 21-45) years and median body mass index was 23 (range, 16-41) kg/m2. Of 839 women, only 8(0.95 %) cases were abandoned due to impossibility of introducing the intracervical catheter. Most of the cervical os were easily cannulated with either paediatric nasogastric probes or special catheter for intrauterine insemination / sonohysterosalpingography 688/914(75.3 %). With a median instillation of 4 mL (range 1-16) of foam, both tubes were identified in 649/875 (70.9 %) patients, while unilateral patency was observed in 190/875 (20.8 %). Only 36/875 (3.9 %) of the women had bilateral tubal obstruction. The median VAS score for perception of pain during HyFoSy examination was 2 (range 0-10), and only 17 (1.9 %) of women reported severe pain (VAS ≥ 7). Pain was unrelated to tubal patency or tubal blockage. Unexpectedly, difficult cervical catheterizations that needed tenaculum, were more likely associated with mild pain during procedure [nasogastric probe group 176/289 (70.9 %) vs. insemination catheter group 166/399 (41.6 %) vs. tenaculum group 190/218(87.2 %) p < 0.001]. Finally, among 915 patients, we only noticed 3 (0.32 %) complications of the technique: two vasovagal episodes and a mild urinary infection. CONCLUSION: HYFOSY is a feasible, well-tolerated and safe technique for the evaluation of tubal patency in infertile women.

Nueva variante asociada a enfermedad de Niemann-Pick tipo C: manifestaciones neurológicas y caracterización bioquímica, molecular y celular / New variant associated with Niemann-Pick disease type C: Neurological manifestations and biochemical, molecular, and cellular characterisation

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Use of (18)F-FDG PET/CT in the preoperative evaluation of patients diagnosed with peritoneal carcinomatosis of ovarian origin, candidates to cytoreduction and hipec. A pending issue.

PURPOSE: To evaluate the clinical usefulness of the results obtained with (18)F-FDG PET/CT in relation to CT in the preoperative staging of patients with peritoneal carcinomatosis secondary to primary or recurrent ovarian cancer candidates to cytoreductive surgery and hyperthermic intraoperative intraperitoneal chemotherapy (HIPEC). MATERIAL AND METHODS: A retrospective study comparing the results obtained with CT and (18)F-FDG PET/CT in the preoperative evaluation of a series of 59 patients was performed. In all patients the peritoneal carcinomatosis index (PCI) was determined by preoperative radiological CT and 18F-FDG PET/CT and compared with surgical PCI, which was considered as reference. RESULTS: Of the 59 patients studied, in 55 peritoneal carcinomatosis presences were confirmed (4 patients had complete responses to neoadjuvant chemotherapy). The mean surgical, CT and 18F-FDG PET/CT PCI was 9.46±7.70, 3.69±3.96 and 2.25±1.02, respectively. In the global disease detection, CT showed a higher positive likelihood ratio (LR+) than (18)F-FDG PET/CT (15.3, 95% CI 8.35-28.04 vs. 3.47, 95% CI 3.36-5.11) and a lower negative likelihood ratio (LR-) than 18F-FDG PET/CT (0.67, 95% CI 0.61-0.73 vs. 0.82, 95% CI 0.76-0.88). In every region of the abdomen the CT showed a greater LR+ than 18F-FDG PET/CT and a lower LR- than 18F-FDG PET/CT. CONCLUSIONS: CT showed the best diagnostic results compared to (18)F-FDG PET/CT to confirme the presence of peritoneal disease. The lower performance of the (18)F-FDG PET/CT suggests that the main utility of (18)F-FDG PET/CT is to evaluate a possible metastatic extraperitoneal spread of the disease.

WITHDRAWN: Response from original author: Reproducibility of first trimester three-dimensional placental measurements; a methodological issue.

The Publisher regrets that this article is an accidental duplication of an article that has already been published, DOI of original article: http://dx.doi.org/10.1016/j.ejogrb.2016.07.485. The duplicate article has therefore been withdrawn. The full Elsevier Policy on Article Withdrawal can be found at http://www.elsevier.com/locate/withdrawalpolicy.

Prognostic Value of 18-Fluorodeoxyglucose-Positron Emission Tomography After Transarterial Chemoembolization in Patients With Hepatocellular Carcinoma Undergoing Orthotopic Liver Transplantation.

INTRODUCTION: The aim of this study was to analyze the correlation between 18-FDG positron emission tomography (PET)/computed tomography (CT), histological necrosis, and prognosis after transarterial chemoembolization (TACE) for hepatocellular carcinoma (HCC) patients undergoing orthotopic liver transplantation (OLT). PATIENTS: From January 2007 through December 2013, 81 patients with HCC and liver cirrhosis were included in our liver transplantation program. For this study we selected patients who underwent 18-FDG PET/CT pre-TACE and post-TACE. All patients underwent liver transplantation within 8 weeks after PET/CT. RESULTS: Twenty patients with a median age of 58 years (range, 46-69 years) underwent an 18-FDG PET/CT before and after TACE. The median Standardized Uptake Value (SUV) before TACE was 3.8 (range, 2.6-8.7), with a median post-TACE SUV of 0% (range, 0-4). Among patients whose post-TACE SUV decreased to <3, >70% necrosis was observed upon study of a hepatectomy sample, with a survival rate of 100% and 80% at 1 and 3 years, respectively. CONCLUSION: In conclusion, performance of an 18-FDG PET/CT before and after TACE with comparison of SUV values among patients with HCC awaiting OLT provided valuable information regarding the effectiveness of TACE.

Mapas tridimensionales de impedancia para guiarel aislamiento circunferencial de las venas pulmonaresen la fibrilaci¨®n auricular parox¨ªstica / Three-Dimensional Impedance Mapping as an Aid to Circumferential Pulmonary Vein Isolation in Paroxysmal Atrial Fibrillation

En el aislamiento circunferencial de las venas pulmonares,se realizan lesiones de radiofrecuencia en la zonade transici¨®n auricular y venosa, fuera de los ostia, paraevitar las estenosis. Se construy¨® un mapa tridimensionalde impedancias en 25 pacientes con fibrilaci¨®n auricularparox¨ªstica. En los 15 primeros se midieron las impedanciasdel interior de las venas (165,4 ¡À 7,5 ¦¸), el ostium(141,6 ¡À 7,3 ¦¸) y la aur¨ªcula izquierda (131,09 ¡À 8,3 ¦¸).Una impedancia de 136 ¦¸ defin¨ªa el l¨ªmite auricular (¨¢reabajo la curva ROC = 0,85). En los siguientes 10 pacientes,un operador que desconoc¨ªa la posici¨®n anat¨®micadel cat¨¦ter clasific¨® por la impedancia los puntos paraaplicar radiofrecuencia como aur¨ªcula izquierda u ostiumde vena pulmonar, con valor predictivo positivo del 91%y negativo del 73% para identificar aur¨ªcula izquierda. Enpacientes con fibrilaci¨®n auricular parox¨ªstica, los mapastridimensionales de impedancia son de ayuda para guiarel aislamiento circunferencial de las venas pulmonares (AU)

During circumferential pulmonary vein isolation,radiofrequency lesions are created in the transition zonebetween the left atrium and the pulmonary veins, outsidethe ostia, to avoid stenosis. Three-dimensional impedancemaps were constructed for 25 patients with paroxysmalatrial fibrillation. In the first 15 patients, impedance wasmeasured inside the pulmonary veins (165.4¡À7.5¦¸), theostium (141.6¡À7.3¦¸) and the left atrium (131.09¡À8.3¦¸). Animpedance of 136¦¸ identified the outer limit of the atrium(area under the receiver operating characteristic curve,0.85). In the subsequent 10 patients, a single operator whowas blinded to the anatomic position of the catheter tipwas able to determine, by impedance measurement alone,whether the point targeted for radiofrequency ablationwas in the left atrium or the ostium of the pulmonaryvein. The positive predictive value for identifying the leftatrium was 91% and the negative predictive value was73%. In patients with paroxysmal atrial fibrillation, threedimensionalimpedance mapping was helpful in guidingcircumferential pulmonary vein isolation (AU)

Valoración de la satisfacción del paciente a medio plazo tras reparación del prolapso urogenital con malla de polipropileno / Evaluation of medium-term patient satisfaction after repair of urogenital prolapse using polypropylene mesh

Objetivo: Evaluar la tasa de satisfacción de las pacientes sometidas a cirugía de corrección del prolapso urogenital con malla de polipropileno. Material y método: Estudio retrospectivo, no aleatorizado, con 106 pacientes que, desde abril de 2005 a enero de 2007, se sometieron a corrección de diferentes tipos de prolapso urogenital mediante malla de polipropileno. El seguimiento se realizó mediante visitas en consulta a los 2 y 6 meses. Posteriormente se realizó un análisis descriptivo de los datos. Resultados: La edad media fue de 64,4 años. El 91,51% era multípara y el 92,45% había pasado la menopausia. La intervención mayoritaria fue la colocación de una malla anterior con banda libre de tensión para la corrección de la incontinencia urinaria asociada, que representó un 34,90% del total. Se obtuvo una tasa global de complicaciones intraoperatorias del 2,83%, inmediatas del 37,73% y tardías del 21,69%. La tasa de éxito del procedimiento a los 6 meses estuvo entre el 80 y el 100%. La tasa de satisfacción de las pacientes a los 2 y 6 meses varió entre el 50 y el 100%, según el procedimiento realizado. Conclusiones: A pesar de la baja tasa de complicaciones intraoperatorias y a medio plazo en las cirugías de reparación del suelo pélvico en los prolapsos urogenitales con la malla de polipropileno, la tasa de satisfacción de las pacientes dependió mucho del procedimiento realizado, que fue menor en las mallas posteriores y cuando se asociaba cirugía de corrección de la incontinencia urinaria (AU)

Objective: To evaluate the satisfaction rate among women who underwent repair of urogenital prolapse using polypropylene meshes. Material and method: We performed a retrospective, non-randomized study in 106 patients who had undergone different kinds of urogenital prolapse repairs using polypropylene meshes between April 2005 and January 2007. Follow-up consisted of 2 visits to the hospital, 2 and 6 months after surgery. Subsequently, the information was analyzed descriptively. Results: The mean age was 64.4 years. The rate of multiparous and postmenopausal women was 91.51% and 92.45%, respectively. The most frequently used surgical technique was anterior mesh placement with a tension-free band (34.90%) to correct associated urinary incontinence. The complications rates were as follows: intraoperative complications (2.83%), immediate complications (37.73%), and late complications (21.69%). The success rate after 6 months was 80%-100%, depending on the technique. The satisfaction rate varied between 50%-100% and also depended on the technique. Conclusions: Despite the low rate of intraoperative and medium-term complications in the reconstructive surgery of pelvic floor for urogenital prolapses using polypropylene meshes, the satisfaction rate depended heavily on the kind of mesh use. The lowest rates were found in posterior meshes and when surgery for urinary incontinence was associated (AU)

The labor induction: integrated clinical and sonographic variables that predict the outcome.

OBJECTIVE: To analyze the clinical and sonographic variables that predicts the success of labor induction. STUDY DESIGN: We studied the Bishop score, cervical length and parity in 196 pregnant women in the prediction of successful vaginal delivery within 24 h of induction. Logistic regression and segmentation analysis were performed. RESULTS: Cervical length (odds ratio (OR) 1.089, P<0.001), Bishop score (OR 0.751, P=0.001) and parity (OR 4.7, P<0.001) predict the success of labor induction. In a global analysis of the variables studied, the best statistic sequence that predicts the labor induction was found when we introduced parity in the first place. The success of labor induction in nulliparous was 50.8 and 83.3% in multiparous women (P=0.0001). CONCLUSIONS: Cervical length, Bishop score and parity, integrated in a flow chart, provide independent prediction of vaginal delivery within 24 h of induction.

Falso positivo de divertículo de Meckel debido a riñón ectópico / False positive of Meckel's diverticulum due to ectopic kidney

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Quiste del colédoco: diagnóstico mediante gammagrafía hepatobiliar / Choledochal cyst: diagnosis by hepatobiliary scintigraphy

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[Renal angiomyolipoma and fever: assessment with isotopic renogram and 67Ga scintigraphy]. / Angiomiolipoma renal y fiebre: valoración mediante renograma isotópico y gammagrafía con 67Ga.

A 26 year-old woman with tuberous sclerosis who came to the Emergency Department with high fever, bilious vomit, right hemiabdomen pain and syncope during 2 weeks. Laboratory analyses show hemoglobin 6.7 g/dl, creatinine 1.5 mg/dl and leukocytes 30,000. Abdominal CT is performed because of suspicion of active bleeding in right hemiabdomen, following rupture of right angiomyolipoma, treated by selective arterial embolization. She was referred to the Nuclear Medicine Department to perform a 67Gallium scintigraphy for the detection of infection, and static and dynamic renal scintigraphy for evaluation of the renal morphology and function.

Angiomiolipoma renal y fiebre: valoración mediante renograma isotópico y gammagrafía con 67Ga / Renal angiomyolipoma and fever: assessment with isotopic renogram and 67Ga scintigraphy

Mujer de 26 años con esclerosis tuberosa, que acude a urgencias por cuadro de dos semanas de evolución de fiebre, vómitos biliosos, dolor en flanco derecho y síncope de segundos de duración. En analítica se refleja hemoglobina de 6,7 g/dl, creatinina de 1,5 mg/dl y leucocitosis (30.000/μl). Se realiza TC abdominal por sospecha de sangrado activo, llegándose al diágnostico de rotura de angiomiolipoma renal derecho, que se trata mediante embolización arterial selectiva. Se remite al servicio de Medicina Nuclear para determinar mediante Gammagrafía con 67Ga posible origen de foco infeccioso no puesto en evidencia por otras técnicas diagnósticas, así como Gammagrafía renal y Renograma isotópico para evaluar la morfología renal y el grado de funcionalidad

A 26 year-old woman with tuberous sclerosis who came to the Emergency Department with high fever, bilious vomit, right hemiabdomen pain and syncope during 2 weeks. Laboratory analyses show hemoglobin 6.7 g/dl, creatinine 1.5 mg/dl and leukocytes 30,000. Abdominal CT is performed because of suspicion of active bleeding in right hemiabdomen, following rupture of right angiomyolipoma, treated by selective arterial embolization. She was referred to the Nuclear Medicine Department to perform a 67Gallium scintigraphy for the detection of infection, and static and dynamic renal scintigraphy for evaluation of the renal morphology and function

Valor pronóstico de la isoforma fosforilada de la proteína transportadora del factor de crecimiento similar a la insulina tipo 1, en el éxito de la inducción del parto / Prognostic value of the phosphorylated isoform of type I insulin-like growth factor binding protein-1 on successful induction of delivery

Objetivo: Analizar la relación entre el éxito de la inducción del parto y la presencia, en la secreción cervical, de la forma altamente fosforilada de la proteína transportadora del factor de crecimiento similar a la insulina tipo I (IGFBP-1). Sujetos y métodos: Se estudió a 102 pacientes ingresadas para inducción del parto entre las semanas 37 y 41 con gestaciones únicas y presentación cefálica. Se realizó una historia obstétrica, examen físico, ecografía transvaginal y determinación de la isoforma altamente fosforilada de la IGFBP-1 (Actim ® PARTUS). El éxito de la inducción se definió como el parto vaginal dentro de las 24 h siguientes al inicio del procedimiento. Se realizó un análisis de regresión logística para identificar las variables que se asociaron de manera independiente con el éxito de la inducción. Resultados: El éxito en la inducción se produjo en 56 (65,1%) casos. El test Actim ® PARTUS resultó positivo en el 67,4% de los casos, y mostró una sensibilidad del 76,8% y una especificidad del 50%. El análisis de regresión logística mostró que la única variable que se asoció de modo independiente con el éxito de la inducción fue la paridad. El resto de covariables analizadas, incluyendo el test Actim ® PARTUS, no mostraron una relación independiente con el éxito de la inducción. Conclusiones: La presencia en la secreción cervical de la forma altamente fosforilada de la IGFBP-1 no se relaciona de modo independiente con el éxito de la inducción

Objective: To evaluate the relationship between successful induction of labor and the presence of the highly phosphorylated isoform of type-I insulin-like growth factor binding protein-1 (IGFBP-1) in the cervical fluid. Subjects and methods: A total of 102 women with singleton vertex pregnancies undergoing induction of labor between 37 and 41 completed weeks of gestation were studied. Obstetric history, physical examination, transvaginal ultrasound and determination of the highly phosphorylated isoform of IGFBP-1 (Actim TM PARTUS) were performed. Successful labor induction was defined as vaginal delivery within 24 hours of the procedure. Logistic regression modeling was performed to identify which variables were independently associated with successful induction. Results: Labor induction was successful in 56 patients (65.1%). An Actim TM PARTUS positive result was observed in 67.4% of the patients, with a sensitivity of 76.8% and a specificity of 50%. On logistic regression, the only variable independently associated with the outcome of labor induction was parity. The other covariates, including the Actim TM PARTUS test, did not show a significant association. Conclusions: The presence of the highly phosphorylated isoform of IGFBP-1 in the cervical fluid is not an independent factor associated with the success of labor induction

Inducción del parto: variables clínicas que influyen hasta el inicio de la fase activa del parto / Induction of labor: clinical variables of influence until the onset of the active phase of labor

Objetivo: Analizar la influencia de diferentes variables clínicas en la duración de la inducción hasta llegar al período de parto activo. Sujetos y métodos: Analizamos 196 gestantes expuestas a inducción del parto. Eran gestaciones entre 37-42 semanas, únicas, en cefálica. Excluimos gestaciones con cicatrices uterinas. Definimos parto activo como cuello borrado, 2 cm y dinámica uterina regular. Dividimos el tiempo entre el comienzo de la inducción y el inicio de parto activo en 4 períodos: 0-6 h, 6-12 h, 12-24 h y más de 24 h. Utilizamos una regresión ordinal politómica. Resultados: El test de Bishop (p < 0,001), la paridad (p = 0,006) y el peso del neonato (p = 0,019) influyen en la probabilidad de llegar a parto activo en cada intervalo. No encontramos relación con la edad materna (p = 0,209), el diámetro biparietal del feto (p = 0,431) y el antecedente de aborto (p = 0,160). Conclusiones: Con el test de Bishop, la paridad y el peso del neonato se podría establecer la probabilidad de llegar a parto activo

Objective: To analyze the influence of several clinical variables on the duration of the interval between induction of labor and the active phase. Subjects and methods: We analyzed 196 pregnant women who underwent induction of labor. All the women had single, cephalic pregnancies at 37-42 weeks of gestational age. Pregnant women with uterine scars were excluded. The active period of labor was defined as cervical effacement, 2-cm dilatation and regular uterine contractions. The interval between the start of induction and the beginning of active labor was divided into four periods: 0-6 h, 6-12 h, 12-24 h and more than 24 h. Ordinal polytomic regression was applied. Results: The probability of reaching the active phase of labour in each interval was influenced by Bishop’s score (p<0.001), parity (p=0.006) and neonatal weight (p=0.019). No relationship was found with maternal age (p=0.209), fetal biparietal diameter (p=0.431) or a history of miscarriage (p=0.160). Conclusions: The probability of reaching the active phase of labor could be established using Bishop’s score, parity and neonatal weight