EUS-guided tissue acquisition in patients with solid pseudopapillary neoplasms of the pancreas.

OBJECTIVES: Endoscopic ultrasound-guided tissue acquisition (EUS-TA) has been the most common method used for the preoperative cytopathological diagnosis of solid tumors of the pancreas. There are only a few reported cases about the role of endoscopic ultrasound-guided fine needle biopsy (EUS-FNB) in the pre-operative diagnosis of solid pseudopapillary neoplasms (SPN). This study aimed to evaluate the diagnostic yield of EUS-TA,including endoscopic ultrasound-guided fine needle aspiration (EUS-FNA) andEUS-FNB, in patients with SPN. METHODS: We performed a retrospective analysis of patients with EUS-TA for SPN diagnosis in 2 referral centers. The primary outcome was the diagnostic yield of EUS-TA compared to the surgical specimen. RESULTS: Seventy-four patients with SPN of the pancreas were identified. Eighteen had a EUS-TA (10 EUS-FNB and 8 EUS-FNA). The median age of the patients was 31 years (IQR 21-38), and all patients were women. The most common presenting symptom was abdominal pain. Most of the tumors were in the head of the pancreas (9/18; 50%). The median tumor size by EUS was 4.5 cm (min-max 2-15 cm). The most common appearance on EUS was a solid lesion (n = 8/18, 44.4%). A definitive presurgical cytopathological diagnosis was obtained in 16/18 patients (88.8%) with EUS-TA. The sensitivity and positive predictive value of the EUS-TA were 94% each. One patient in the EUS-FNB group developed mild acute pancreatitis. CONCLUSION: The diagnostic yield of the EUS-TA in SPN is high. In most cases, the diagnosis was obtained with the first procedure. No differences in the diagnostic yield or AEs between EUS-FNA vs. EUS-FNB needles were seen.

Humoral response to different SARS-CoV-2 vaccines in orthotopic liver transplant recipients.

BACKGROUND: The safety and efficacy data of the different types of available vaccines is still needed. The goal of the present analysis was to evaluate the humoral response to the COVID-19 vaccines in orthotopic liver transplant (OLT) recipients. METHODS: Participants were included from February to September 2021. No prioritized vaccination roll call applied for OLT patients. Controls were otherwise healthy people. Blood samples were drawn after 15 days of the complete vaccine doses. The samples were analyzed according to the manufacturer's instructions using the Liaison XL platform from DiaSorin (DiaSorin S.p.A., Italy), and SARS-COV-2 IgG II Quant (Abbott Diagnostics, IL, USA). RESULTS: A total of 187 participants (133 OLT, 54 controls, median age: 60 years, 58.8% women) were included for the analysis; 74.3% had at least one comorbidity. The serologic response in OLT patients was lower than in controls (median 549 AU/mL vs. 3450 AU/mL, respectively; p = 0.001). A positive humoral response was found in 133 OLT individuals: 89.2% with BNT162b2 (Pfizer-BioNTech), 60% ChAdOx1 nCOV-19 (Oxford-AstraZeneca), 76.9% with CoronaVac (Sinovac, Life Sciences, China), 55.6% Ad5-nCov (Cansino, Biologics), 68.2% Gam-COVID-Vac (Sputnik V) and 100% with mRNA-1273. In controls the serological response was 100%, except for Cansino (75%). In a multivariable model, personal history of COVID-19 and BNT162b2 inoculation were associated with the serologic response, while the use of prednisone (vs. other immunosuppressants) reduced this response. CONCLUSION: The serologic response to COVID-19 vaccines in OLT patients is lower than in healthy controls. The BNT162b2 vaccine was associated with a higher serologic response.

Miopericitoma mitóticamente activo / Mitotically Active Myopericytoma

No disponible

SCGN deficiency results in colitis susceptibility.

Inflammatory bowel disease (IBD) affects 1.5-3.0 million people in the United States. IBD is genetically determined and many common risk alleles have been identified. Yet, a large proportion of genetic predisposition remains unexplained. In this study, we report the identification of an ultr arare missense variant (NM_006998.3:c.230G > A;p.Arg77His) in the SCGN gene causing Mendelian early-onset ulcerative colitis. SCGN encodes a calcium sensor that is exclusively expressed in neuroendocrine lineages, including enteroendocrine cells and gut neurons. SCGN interacts with the SNARE complex, which is required for vesicle fusion with the plasma membrane. We show that the SCGN mutation identified impacted the localization of the SNARE complex partner, SNAP25, leading to impaired hormone release. Finally, we show that mouse models of Scgn deficiency recapitulate impaired hormone release and susceptibility to DSS-induced colitis. Altogether, these studies demonstrate that functional deficiency in SCGN can result in intestinal inflammation and implicates the neuroendocrine cellular compartment in IBD.

Abnormal Cardiovascular Findings in Acute Pancreatitis: Are They Associated with Disease Severity?

BACKGROUND: Acute pancreatitis (AP), a disease that commonly requires in-hospital treatment, has been associated with a high incidence of abnormal cardiovascular findings (ACFs). We conducted a prospective study to explore the association of these findings with severity of the disease. METHODS: Adult patients with AP diagnosis were prospectively enrolled in an observational study during an 8-month period in a tertiary care center. AP and its severity were defined according to the Revised Atlanta Classification of AP. Subjects were submitted to electrocardiographic, echocardiographic, and serologic testing during the acute period and a 3-month follow-up. The incidence of ACF was compared between two groups: (1) Mild and (2) moderate/severe cases. RESULTS: Twenty-seven patients (mean age 48 ± 17 years) with AP were enrolled; 15 (55%) had mild and 12 (45%) had moderate/severe AP. During the acute episode, 67% had increased pro-brain natriuretic peptide levels; 52% had abnormal electrocardiographic findings; 48% had abnormal echocardiographic findings; and 18% had increased troponin I levels. There was no significant difference in the incidence of ACF between mild and moderate/severe groups. Nineteen patients (70%) had repeated follow-up testing, and most of the initial ACF did not persist. CONCLUSION: ACFs occur in an important proportion of patients during AP episodes. Future research should continue to focus in the association of ACFs and the severity of the disease.

Adherence to a Gluten-Free Diet in Mexican Subjects with Gluten-Related Disorders: A High Prevalence of Inadvertent Gluten Intake.

BACKGROUND: The rate of compliance with a gluten-free diet in patients with gluten-related disorders is unknown in most Latin American countries. OBJECTIVE: To study the adherence to a gluten-free diet of Mexican individuals with celiac disease and nonceliac gluten sensitivity at the time of their first medical and nutritional consultation at a tertiary referral center. METHODS: A cross-sectional study was performed. A specific questionnaire was used to gather information on demographics, clinical condition, and self-reported adherence to a gluten-free diet, and to determine strict compliance and intentional or inadvertent gluten consumption. All questionnaires were applied by a nutritionist with expertise in gluten-related disorders. RESULTS: Fifty-six patients with celiac disease and 24 with non-celiac gluten sensitivity were included. Overall, 46 (57.5%) subjects perceived themselves as strictly adherent; however, inadvertent gluten intake was frequent in both celiac disease and non-celiac gluten sensitivity patients (39.2 vs. 33.3%; p = 0.2). Intentional consumption was more prevalent in subjects with celiac disease (48.8 vs. 29.1%; p = 0.048) and individuals with non-celiac gluten sensitivity showed better adherence (37.5 vs. 12.5%; p = 0.035). CONCLUSIONS: The importance of a gluten-free diet is underestimated by Mexican patients with celiac disease. The role of a team with expertise in gluten-related disorders is essential to identify inadvertent gluten intake.

Brachmann-Cornelia de Lange syndrome with a papilloma of the choroid plexus: analyses of molecular genetic characteristics of the patient and the tumor. A single-case study.

PURPOSE: A 10-month-old girl with a Brachmann-Cornelia de Lange syndrome and a choroid plexus papilloma of the brain was studied at the Hospital Infantil de México Federico Gómez (HIMFG) in Mexico City. METHODS AND RESULTS: Presumptive papilloma of the third ventricle was evidenced on CT and MR images and removed. Pathological analysis confirmed its origin. A posterior radiosurgery was required due to a tumor relapse. Karyotypes (GTG bands) of the patient and her parents undertaken at HIMFG were normal. Array comparative genomic hybridization (array CGH) analyses of blood DNA of the patient and her parents carried out at BlueGnome's Laboratory in Cambridge, UK, set in evidence amplification of genes SPNS2, GGT6, SMTNL2, PELP1, MYBBP1A, and ALOX15 in chromosome 17p of the patient. Since MYBBP1A is a proto-oncogene and ALOX15 participates in the development of cancer and metastases of tumors, further fluorescent in situ hybridization (FISH) analyses of these two genes were implemented at HIMFG. Amplification of the two genes was found in the tumor of the case under study but not in an unrelated papilloma of the choroid plexus. DISCUSSION: Further analyses of the association of choroid plexus papillomas with disorders of psycho-neural development and its relationship to molecular genetic modifications at chromosome 17p are now under way at HIMFG.

COMMD1 is linked to the WASH complex and regulates endosomal trafficking of the copper transporter ATP7A.

COMMD1 deficiency results in defective copper homeostasis, but the mechanism for this has remained elusive. Here we report that COMMD1 is directly linked to early endosomes through its interaction with a protein complex containing CCDC22, CCDC93, and C16orf62. This COMMD/CCDC22/CCDC93 (CCC) complex interacts with the multisubunit WASH complex, an evolutionarily conserved system, which is required for endosomal deposition of F-actin and cargo trafficking in conjunction with the retromer. Interactions between the WASH complex subunit FAM21, and the carboxyl-terminal ends of CCDC22 and CCDC93 are responsible for CCC complex recruitment to endosomes. We show that depletion of CCC complex components leads to lack of copper-dependent movement of the copper transporter ATP7A from endosomes, resulting in intracellular copper accumulation and modest alterations in copper homeostasis in humans with CCDC22 mutations. This work provides a mechanistic explanation for the role of COMMD1 in copper homeostasis and uncovers additional genes involved in the regulation of copper transporter recycling.

[Clinical characteristics associated to resectability in patients with tumors of the ampulla of Vater in a third-level hospital in Mexico: an 18-year experience]. / Caracteristicas clínicas asociadas a resecabilidad en pacientes con tumores del ámpula de Vater en un hospital de tercer nivel en Mexico: experiencia de 18 años.

BACKGROUND: Ampulla of Vater's tumors (AVT) are rare and account for 0.2% of neoplasia in necropsies. The stage, comorbidities and surgical experience are crucial for prognosis. The aim of this work is to report the clinical characteristics, treatment and complication of a group of patients with AVT. MATERIAL AND METHODS: Patients with AVT were included in a retrospective manner. Descriptive statistics was used and data were shown as means and SD. RESULTS: One hundred and six patients were included with a mean age of 58.5 +/- 14 years and 58% were women. Jaundice was the most common clinical data and it was present in 90% of cases. Two-thirds of patients underwent a Whipple surgical procedure. Complications of surgery were present in 35% of cases and abdominal sepsis and pancreatic fistulae were the most common (32% and 29%, respectively). Adenocarcinoma was the most common histological type and 39% of cases were in stage IV at diagnosis. Age higher or equal to 65 years was associated with less surgical possibilities. Melena at presentation was associated with a higher probability of surgical resection. CONCLUSION: The probability of surgical resection is lower in patients older than 65 years and higher in those with melena at the diagnosis.

Tumores intracraneanos del niño / Pediatric intracranial tumors

Introducción. Los tumores intracraneanos (TIC) pediátricos son las neoplasias sólidas más frecuentes en niños. Se presenta la experiencia del Hospital Infantil de México Federico Gómez (HIMFG) de los últimos 36 años. Material y métodos. Se utilizaron los siguientes archivos del HIMFG: Clínico, de los Departamentos de Neurocirugía y de Patología. Los resultados se compararon con los datos del Hospital for Sick Children de Toronto y del Instituto Nacional de Pediatría de México, D. F. Resultados. En el HIMFG, 55% de los pacientes eran del sexo masculino. Predominaron desde lactantes mayores hasta escolares, con más de 50%. Los tumores fueron: 397 supratentoriales y 413 infratentoriales. Los más frecuentes fueron: astrocitomas (32%), meduloblastomas (19%), craneofaringiomas (11%) y ependimomas (10%); en el quinto lugar quedaron los germinomas (4%). Los gliomas mixtos, los meningiomas, los tumores neuroectodérmicos primitivos y los ependimoblastomas representaron de 1 a 3%. Conclusiones. En el HIMFG, los 4 tipos más frecuentes de tumor fueron: astrocitomas, meduloblastomas, craneofaringiomas y ependimomas. El trabajo de campo del HIMFG ha tenido un desarrollo exponencial desde la mitad de los años setenta. Actualmente, el volumen de pacientes manejado por el HIMFG es semejante a, o rebasa discretamente, al de otras instituciones.

Introduction. Pediatric intracranial tumors (PIC) make up the most frequent solid neoplastic pathology in children. We present an analysis of the experience of Hospital Infantil de Mexico Federico Gomez (HIMFG), in Mexico City, over the course of 36 years in this regard. Material and methods. Cases from the archives of the Department of Clinical Records, Department of Neurosurgery and Department of Pathology at HIMFG were used for this analysis. Results were compared to data published by the Hospital for Sick Children of Toronto (HSCT) and by Instituto Nacional de Pediatria (INP) in Mexico City. Results. Of 810 cases reviewed at HIMFG, 55% belonged to the male gender. By age, older-infant and grade-school-children cases predominated (> 50%). Of those, 397 cases were supratentorial and 413 infratentorial. Most frequent tumors were: astrocytomas (23%), medulloblastomas , craniopharyngiomas (11%) and ependymomas (10%). Fifth place was occupied by germinomas (4%). Mixed gliomas, meningiomas, primitive neuroectodermal tumors and ependymoblastomas were the last (1 to 3%). Conclusions. At HIMFG, the most frequent tumour types were: astrocytomas, medulloblastomas, craniopharyngiomas and ependymomas. Since the 70s, on the number of patients presenting with intracranial tumors at HIMFG has grown exponentially, and the amount carried out till now at this hospital parallels, or slightly exceeds, that carried out at similar institutions in Mexico and abroad.

Surgery of tumors of the cerebellum and prefrontal cortex, and sensory memory and motor planning disturbances in children.

OBJECT: This study addressed the integration of sensory short-term memory (SSTM) and motor planning (MP) in the lateral cerebellar region, where the dentate nucleus is localized, and in the prefrontal cortex (PF). METHODS: Boucher and Lewis's test of SSTM and MP was administered pre- and postsurgically to 8 patients of either sex, between 5 and 19 years of age, with tumors of the cerebellum, PF (area 9 medial) or the parieto-occipital region, and on one occasion to 8 corresponding controls. RESULTS: Whereas lesions of the midline portions of the cerebellum and of the parietal-occipital region did not appear to cause any cognitive defects, patients with lesions affecting either the lateral cerebellar region or PF exhibited statistically significant deficits of SSTM and MP. CONCLUSIONS: The lateral cerebellum seems to act in concert with PF to integrate different cognitive activities related to holding objects in SSTM and planning motor strategies in reference to them.

Tratamiento de niños con insuficiencia renal crónica terminal con eritropoyetina recombinante humana / Treatment with recombinant human erythropoietin (rHuEPO) of children with terminal chronic renal failure (TRF)

Con el propósito de evaluar los efectos de la eritropoyetina recombinante humana (EPOrHu) sobre la anemia en niños con insuficiencia renal crónica terminal (I.R.C.T.), 10 pacientes con edad promedio de 10,55 +/- 5,20 años (rango: 3 a 16), todos en diálisis peritoneal ambulatoria continua (D.P.A.C.), recibieron tratamiento durante 16 semanas. Previo a la terapia, presentaban: hemoglobina: promedio 6,08 +/- 0,41 (rango 5,5 a 6,6) g/dl, hematócrito: promedio 18,4 +/- 2,01 por ciento (rango: 15 a 21). La dosis inicial de EPOrHu fue de 25 unidades/kg peso, administrada por vía subcutánea, ajustándola según el incremento porcentual del hematócrito y fijándose como objetivo un hematócrito de 30 por ciento. La respuesta al tratamiento se valoró a través del incremento de los valores de hemoglobina y hematócrito, analizándose estadísticamente los resultados por t de Student. Previo a la terapia, y periódicamente, se determinó hierro sérico, ferritina, creatinina y recuento de reticulocitos. Al final de la terapia se obtuvo una hemoglobina promedio de 8,08 +/- 1,18 g/dl (p < 0,001) y un hematócrito promedio de 24,9 +/- 4,33 por ciento (rango 17-30) (p < 0,001). La hipertensión arterial fue el efecto adverso más comúnmente observado. Se concluye que la EPOrHu constituye una terapia efectiva para coregir de manera importante la anemia en niños con I.R.C.T., para evitar el uso de transfusiones sanguíneas y mejorar la calidad de vida de los pacientes. El control adecuado de la tensión arterial preterapia y el ajuste de la medicación hipotensora obvia este efecto adverso (AU)

Tratamiento de niños con insuficiencia renal crónica terminal con eritropoyetina recombinante humana / Treatment with recombinant human erythropoietin (rHuEPO) of children with terminal chronic renal failure (TRF)

Con el propósito de evaluar los efectos de la eritropoyetina recombinante humana (EPOrHu) sobre la anemia en niños con insuficiencia renal crónica terminal (I.R.C.T.), 10 pacientes con edad promedio de 10,55 +/- 5,20 años (rango: 3 a 16), todos en diálisis peritoneal ambulatoria continua (D.P.A.C.), recibieron tratamiento durante 16 semanas. Previo a la terapia, presentaban: hemoglobina: promedio 6,08 +/- 0,41 (rango 5,5 a 6,6) g/dl, hematócrito: promedio 18,4 +/- 2,01 por ciento (rango: 15 a 21). La dosis inicial de EPOrHu fue de 25 unidades/kg peso, administrada por vía subcutánea, ajustándola según el incremento porcentual del hematócrito y fijándose como objetivo un hematócrito de 30 por ciento. La respuesta al tratamiento se valoró a través del incremento de los valores de hemoglobina y hematócrito, analizándose estadísticamente los resultados por t de Student. Previo a la terapia, y periódicamente, se determinó hierro sérico, ferritina, creatinina y recuento de reticulocitos. Al final de la terapia se obtuvo una hemoglobina promedio de 8,08 +/- 1,18 g/dl (p < 0,001) y un hematócrito promedio de 24,9 +/- 4,33 por ciento (rango 17-30) (p < 0,001). La hipertensión arterial fue el efecto adverso más comúnmente observado. Se concluye que la EPOrHu constituye una terapia efectiva para coregir de manera importante la anemia en niños con I.R.C.T., para evitar el uso de transfusiones sanguíneas y mejorar la calidad de vida de los pacientes. El control adecuado de la tensión arterial preterapia y el ajuste de la medicación hipotensora obvia este efecto adverso

Complicaciones agudas y crónicas en 1.700 hemodialisis en 12 niños con insuficiencia renal crónica / Acute and chronic complications in 1700 hemodyalisis in 12 children with chronic renal failure

Entre Mayo 1979 y Mayo 1984, 12 portadores de insuficiencia renal crónica terminal (IRC) recibieron un total de 1.700 sesiones de hemodiálisis (HD) en forma periódica como parte del programa de rehabilitación del Niño de Valencia. El número de hemodiálisis ha aumentado de 69 sesiones durante el primer año a 686 en el período 1983-84. El rango de edad de los pacientes fué de 4 a 14 años (X: 8 años, 75% de ellos entre 8 y 12 años predominante varones (3 masculinos: 1 femenino); enfermedad glomerular primaria fué responsable de IRC en 9 pacientes y las otras causas incluyen drepanocitosis, nefropatía por reflujo y acidosis tubular renal. A 10 pacientes se les practicó acceso vascular definitivo para HD (fístula interna A-V en miembro superior). 85% de las hemodiálisis se practicaron en máquinas AK-10 Gambro con dispositivos de ultrafiltración y dializadires de flujo paralelo de 0.5 m2. Las complicaciones agudas más frecuentes fueron: náuseas y vomitos (5%), crísis de hipertensión arterial sostenida, cefalea pertinaz, calambres musculares pericarditis con derrame, etc. Las complicaciones crónicas incluyeron: anemia (100%); retardo del crecimiento en 75% de los casos, osteodistrofia renal (25%), retardo en la escolaridad, trastornos psicológicos, ascitis, hipertensión arterial y leucopenia persistente. El porcentaje de sobrevida acumulada a los 6 meses fué de 90% a los 12 meses 85%, manteniendose estable en esta cifra hasta los 26 meses, comparable a los resultados de otros paises

Dialisis Peritoneal ambulatoria continua (DPAC) en niños: estudio comparativo con hemodialisis / Continuous ambulatory peritoneal dialysis (CAPD) in children: comparative study with hemodyalysis

Se compararon las modificaciones bioquímicas y el comportamiento clínico de cinco pacientes sometidos a diálisis peritoneal ambulatoria contínua que recibieron hemodiálisis periódica entre mayo 1979 a 1985. Se encontraron mejor control de a anemia, uremia, acidosis metabólica y tensión arterial en pacientes que recibierón diálisis peritoneal ambulatoria contínua. El crecimiento fué significativamente superior porque hubo mejor ingesta de nutrientes, en comparación con pacientes en hemodiálisis. Se presentaron menos complicaciones con dialisis peritoneal, y el costo del mismo fué 124.886,25 Bs. pacientes -año y el de de hemodiálisis 250.894,25 Bs. pacientes-año. Concluimos que este procedimiento dialítico es una alternativa importante al sistema de hemodiálisis, en pacientes pediatricos

Estudio de infección urinaria y factores predisponentes en los niños de Valencia / Urinary infection and predisponent factors in children of Valencia

Entre enero de 1978 y diciembre de 1980, se estudiaron en forma prospectiva, 116 niños con diagnóstico de infección urinaria, referidos al Servicio de Nefrología Pediátrica del Hospital Central de Valencia, con una incidencia mayor entre los menores de 2 años, 64% correspondieron al sexo femenino. La E. Coli fue la bacteria predominantemente aislada (57%). La fiebre y los síntomas gastrointestinales predominó en los lactantes, mientras que en los otros grupos etarios las manifestaciones referentes al aparato urinario fueron más evidentes. En el 52% de los cursos mostraron alteraciones urológicas, principalmente reflujo vésico ureteral (41-3%). Hubo predominio de los grados I - II y III, los cuales en su mayoría (77%) desaparecieron en un lapso de 12-24 meses, al mantenerlos con dosis bajas de quimioterápicos. Cuatro casos evolucionaron a insuficiencia renal termina, todos con malformación urológica o reflujo severo (grado IV). Se evaluó la capacidad de concentrar la orina a 73 niños, mayores de un año, 56 antes del tratamiento, de ellos 45 (62%) mostraron capacidad de concentración reducida. Los 17 evaluados después del tratamiento, concentraron por encima de 800 mOsm/kg. Del grupo de 45 que concentraron por debajo de 800 mOsm/kg en 21 se encontró como germen responsable a la E. Coli. en 14 otros gérmenes y en 10 no hubo desarrollo bacteriano. Este último grupo al correlacionarlo con los hallazgos radiológicos se encontró que 5 (50%) tenían alteraciones urológicas (p < 0.05). Por consiguiente la prueba de concentración renal, es sensible aunque no específica, es un índice útil de curación y aquellos casos sin desarrollo bacteriano pero con capacidad de concentración alterada, deben ser sometidos a estudios radiológicos, para descartar compromiso anatómico o funcional de las vías urinarias

Digitalización en glomerulonefritis aguda en pediatría / Uso of digitalis in acute glomerulonesphritis in pediatrics

Una de las complicaciones más graves en los niños con nefritis aguda, por su elevada letalidad, es la Insuficiencia Cardíaca (I.C.). El tratamiento de estos pacientes es disminuir el volumen del espacio extracelular, y esto generalmente se logra con la administración de diuréticos y/o procedimientos de diálisis. Desde el punto de vista cardíaco no existe alteración primaria de la fibra miocárdica en estos pacientes, por lo tanto, teóricamente no hay indicación de digitalización en estos casos. Reportamos el caso de un niño con Nefritis Aguda complicado con I.C. e Insuficiencia Renal Aguda (I.R.A.); en este paciente, aunque la volemia se normalizó con las medidas terapéuticas convencionales, no hubo mejoría de la I.C. La evaluación cardiovascular (Rayos X, E.C.G., ecocardiograma) demostró dilatación aguda del ventrículo izquierdo, razón por la cual fue necesario administrar digitálicos, lográndose mejoría rápida del paciente. Evaluación ulterior descartó patología cardíaca primaria. Concluimos que, excepcionalmente los digitálicos podrían ser necesarios en el tratamiento de pacientes con nefritis aguda, pero solo en aquellos casos en que se demuestre dilatación aguda de cavidades cardíacas