Conocimiento de las enfermedades genéticas raras en la práctica clínica diaria

En este número, nos complace presentar 4 trabajos multidisciplinarios que incluyen disciplinas como la Genética Pediátrica, la Hematología, y Nefrología.  Estos trabajos de gran calidad representan el esfuerzo de meses de los colegas especialistas en el área de la genética clínica multidisciplinaria. Cada contribución representa una herramienta para la educación y la docencia a múltiples niveles del aprendizaje médico. (provisto por Infomedic International)

In this issue, we are pleased to present 4 multidisciplinary papers that include disciplines such as Pediatric Genetics, Hematology, and Nephrology. These high quality papers represent the efforts of months of specialist colleagues in the area of multidisciplinary clinical genetics. Each contribution represents a tool for education and teaching at multiple levels of medical learning. (provided by Infomedic International)

Radiation therapy for optic nerve sheath meningiomas: Local control and treatment related visual changes.

Objective: Our primary objective is to evaluate the local control of optic nerve sheath meningiomas (ONSMs) treated with ionizing radiation and related visual changes after treatment. Our secondary objective is to describe the clinical characteristics and perform an analysis of the treatment impact on the functional status of this group of patients. Methods: We present our series of 19 patients treated with ionizing radiation therapy at our radio-neurosurgery unit between 2016 and 2022. The setting, ophthalmological follow-up, morbidity, and survival are analyzed and discussed. Results: Patients were followed up, and the impact of treatment on local disease control, visual alterations of the affected eye, and functional status of the patient were analyzed. The progression-free survival (PFS) median was 60 months (95% CI 50.3-69.6 months). The estimated PFS rates at 48 and 66 months were 100% and 66%, respectively. At diagnosis, nine (47.3%) eyes were in amaurosis and ten (52.6%) with vision. Of the ten patients without amaurosis at the time of diagnosis, three (30%) maintained unchanged visual acuity, and seven (70%) had decreased visual acuity; three of them developed amaurosis during the first year after treatment (p = 0.018). Conclusions: Using ionizing radiation therapy is a successful treatment for the local control of ONSMs. This therapeutic modality can compromise the visual acuity of the affected eye and improve dyschromatopsia and campimetry defects. The life prognosis is good for these patients, with a zero mortality rate, but their vision prognosis is poor.

Características epidemiológicas y microbiológicas de los episodios de Neutropenia Febril (NF) en niños con cáncer en el Hospital del Niño - Dr. José Renán Esquivel (HNJRE)

Introducción: La neutropenia febril (NF) constituye una complicación frecuente, considerada una urgencia infectológica en los pacientes con cáncer que reciben tratamiento mielosupresor. Metodología: Se realizó un estudio retrospectivo descriptivo a través de la revisión de los expedientes de todos los episodios de NF secundarios a quimioterapia ingresados en el Hospital del Niño - Dr. José Renán Esquivel durante el periodo de enero a diciembre de 2017. Resultados: El estudio consistió en la evaluación de características epidemiológicas e identificación de agentes infecciosos en 49 casos de NF, y 104 eventos febriles. Se observó que el 51% de los casos eran varones, con una edad promedio de 7 años, y recuperación de NF en los primeros 7 días del 68%. La mayoría de las hospitalizaciones (53,8%) duraron de 1 a 7 días, con una relación directa con los días de fiebre y la presencia de neutropenia. La letalidad registrada fue de 6.1%. Los agentes etiológicos más frecuentes fueron la Pseudomonas aeruginosa, los Estafilococos coagulasa negativos y Staphylococcus aureus meticilino sensible. Conclusión: Los hallazgos permiten conocer la epidemiología actual de los pacientes con NF que se admiten al hospital, con el fin de optimizar el tratamiento para reducir la tasa de letalidad. (provisto por Infomedic International)

Introduction: Febrile neutropenia (NF) constitutes a frequent complication, considered an infectious emergency in cancer patients receiving myelosuppressive treatment. Methodology: A descriptive retrospective study was conducted by reviewing the records of all episodes of NF secondary to chemotherapy admitted to the Hospital del Niño - Dr. José Renán Esquivel during the period from January to December 2017. Results: The study consisted of the evaluation of epidemiological characteristics and identification of infectious agents in 49 cases of NF, and 104 febrile events. It was observed that 51% of the cases were male, with a mean age of 7 years, and recovery from NF in the first 7 days of 68%. Most hospitalizations (53.8%) lasted from 1 to 7 days, with a direct relationship with the number of days of fever and the presence of neutropenia. The case fatality rate was 6.1%. The most frequent etiological agents were Pseudomonas aeruginosa, coagulase-negative Staphylococci and methicillin-sensitive Staphylococcus aureus. Conclusion: The findings provide insight into the current epidemiology of patients with NF admitted to the hospital, in order to optimize treatment to reduce the case-fatality rate. (provided by Infomedic International)

Retinal Detachment Associated With Giant Retinal Tears: Surgical Management and Outcomes in the Past 2 Decades.

Purpose: To describe the surgical outcomes of rhegmatogenous retinal detachments (RRDs) associated with giant retinal tears (GRTs) and define factors associated with primary anatomic failure. Methods: This retrospective consecutive study comprised primary GRT-RRD surgeries between 1999 and 2021 at a single institution. Exclusion criteria were a follow-up of less than 3 months and incomplete surgical data. Results: The series included 69 eyes (64 patients). Single-surgery anatomic success (SSAS) was achieved in 75% and final anatomic success (FAS) in 90%. The mean logMAR visual acuity improved from 1.5 ± 1.1 to 0.6 ± 0.9. Preoperative factors significantly associated with redetachment were proliferative vitreoretinopathy (PVR) (odds ratio [OR], 6.2; P < .01), hypotony (OR, 13.6; P < .01), and a 180-degree or larger GRT (OR, 3.3; P = .04). All cases were treated with pars plana vitrectomy (PPV) and perfluoro-N-octane (PFCL). Perfluoropropane (C3F8) was used in 59% and silicone oil in 41%; the redetachment rate was significantly lower in gas cases (15% vs 39%) (P = .02). An encircling band, placed in 84% eyes, had a tendency to reduce redetachment (22% vs 36%) (P = .32). Lensectomy was performed in 61% of phakic eyes, with no effect on redetachment (20% vs 21%) (P = .92). On multivariate analysis, PVR and hypotony were significantly associated with redetachment. Conclusions: PPV with PFCL achieved high SSAS and FAS rates. PVR and hypotony were the main preoperative factors associated with anatomic failure. In cases without PVR, C3F8 tamponade significantly increased SSAS. Encircling scleral buckling showed a nonsignificant tendency toward an increase in SSAS. Lensectomy had no effect on SSAS.

Advantages of Intraoperative Neuromonitoring Over Direct Visualization of the Recurrent Laryngeal Nerve During Thyroidectomy.

BACKGROUND: The well-recognized risk of injury to the recurrent laryngeal nerve (RLN) during thyroidectomy has instigated various preventive measures. One such measure involves directly visualizing the RLN, but this is not always feasible in practice. A more recent approach involves using intraoperative neuromonitoring to identify and preserve the RLN. This study aims to evaluate the effectiveness of intraoperative neuromonitoring compared to single visualization of the RLN in averting nerve injury. METHODS: We conducted a retrospective, observational, and descriptive study on a cohort of 218 patients. A Chi-square test was employed to determine the influence of intraoperative neuromonitoring on the incidence of nerve injury, with P < 0.05 considered statistically significant. We used Jamovi software version 2.3.18 to analyze the data. RESULTS: Of the 218 patients, intraoperative neuromonitoring was used in 150 (68.8%) cases; none of which resulted in nerve injury. Conversely, 68 (31.2%) patients underwent surgery without the use of neuromonitoring, with two (2.9%) patients in this group experiencing nerve injury (p=0.037). In comparison, the risk of nerve injury was 0% in the group monitored intraoperatively and 2.94% in the group that did not undergo intraoperatively neuromonitoring. Further, the relative risk of complications was 0.66% in patients operated with neuromonitoring, while it was 5.88% in the group operated without neuromonitoring, thus demonstrating a clinically significant protective against vasculonervous complications. CONCLUSION: The results advocate for the use of intraoperative neuromonitoring, whenever available, as it is a safe method for significantly decreasing the incidence of RLN injury during thyroidectomy compared with only visualization.

Effects and Assessment of the Optic Pathway After Management with Stereotactic Radiosurgery for Intracranial Tumors: A Comprehensive Literature Review.

Intracranial tumors are treated through a minimally invasive procedure called stereotactic radiosurgery (SRS), which uses precisely targeted radiation beams. When SRS is used to treat tumors in or near the optic pathway, which is responsible for transmitting visual information from the eyes to the brain, it is essential to assess the effects of treatment on visual function. The optic pathway is considered relatively radiation-sensitive, and high doses of radiation can lead to visual impairment or loss. Various methods can be used to assess the effects of SRS on the optic pathway, including visual acuity testing, visual field testing, and imaging studies. These assessments can be performed before and after treatment to track changes in visual function and detect potential complications or side effects. Assessing the optic pathway after management with SRS for intracranial tumors is essential to the treatment process to ensure that patients receive the best possible outcomes while minimizing the risk of complications. Close collaboration between the multidisciplinary team is often necessary to optimize treatment planning and monitoring of treatment response. In this review, we conducted an extensive analysis of the effects of radiation in patients with intracranial tumors after receiving radiotherapy.

Generación de un test predictivo para el diagnóstico de laetiología de la hemorragia digestiva alta variceal

Nuestro objetivo fue desarrollar un test diagnóstico para predecir la etiología de la Hemorragia Digestiva Alta Variceal (HDAV). Realizamos un estudio de cohorte retrospectivo. Se revisaron historias clínicas de pacientes mayores de 18 años con Hemorragia Digestiva Alta (HDA) que acudieron al servicio de emergencia del Hospital Cayetano Heredia (HCH) de Lima-Perú entre el 2019 a 2022, se recolectaron datos demográficos, de laboratorio y clínicos; posteriormente, se identificaron variables predictivas de HDAV mediante una regresión logística múltiple. A cada variable con capacidad predictiva se les asignó un puntaje con un punto de corte y sirvió para construir una escala predictiva de HDAV. Se incluyeron 197 historias clínicas de pacientes con HDA, de los cuales 127 (64%) tuvieron sangrado de causa no variceal, y, 70 (36%), variceal. Se identificaron 4 factores predictivos independientes: hematemesis (vómito rojo) (OR: 4,192, IC 95%: 1,586-11,082), recuento de plaquetas (OR: 3,786, IC 95%: 1,324-10,826), antecedente de HDA (OR: 2,634, IC 95%: 1,017-6,820), signos de enfermedad hepática crónica (OR: 11,244, IC 95%: 3,067-35,047), con los que se construyó una escala predictiva, con un punto de corte >7 y ≤7; que mostró una sensibilidad, especificidad, valor predictivo positivo, valor predictivo negativo, cociente de probabilidad positivo, y, negativo de 58,6%, 90,6%, 77,4%, 79,9%, 6,20, y 0,46 respectivamente. En conclusión, la escala predictiva con un punto de corte >7 es útil para predecir la presencia de la HDAV en pacientes que acuden a la emergencia por HDA.

Our objective was to develop a diagnostic test to predict the etiology of Variceal Upper Gastrointestinal Bleeding (VUGIB). We conducted a retrospective cohort study. Medical records of patients over 18 years of age with Upper Gastrointestinal Bleeding (UGIB) who attended the emergency service of Hospital Cayetano Heredia (HCH) in Lima-Peru between 2019 and 2022 were reviewed; demographic, laboratory and clinical data were collected. Subsequently, predictive variables of variceal upper gastrointestinal bleeding (VUGIB) were identified using multiple logistic regression. Each variable with predictive capacity was assigned a score with a cut-off point and served to build a predictive scale for VUGIB. 197 medical records of patients with UGIB were included, of which 127 (64%) had non-variceal bleeding, and 70 (36%), variceal. Four independent predictors were identified: hematemesis (red vomit) (OR: 4,192, 95% CI: 1.586-11.082), platelet count (OR: 3.786, 95% CI: 1.324-10.826), history of UGIB (OR: 2.634, 95% CI: 1.017-6.820), signs of chronic liver disease (OR: 11.244, 95% CI: 3.067-35.047), with which a predictive scale was constructed, with a cut-off point >7 and ≤7; which showed a sensitivity, specificity, positive predictive value, negative predictive value, positive likelihood ratio, and negative of 58.6%, 90.6%, 77.4%, 79.9%, 6.20, and 0.46 respectively. In conclusion, the predictive scale with a cut-off point >7 is useful for predicting the presence of VUGIB in patients who attend the emergency room for UGIB.

Frequency of functional esophageal disorders in patients with refractory reflux symptoms in Lima, Peru

Gastroesophageal reflux disease (GERD) is a clinical condition in which gastric reflux causes symptoms or damage to the esophageal mucosa. It is managed with proton pump inhibitors, however, up to 45% of patients with suspected GERD are refractory to treatment. It is necessary to establish a true GERD diagnosis by means of a digestive endoscopy, which does not show lesions in approximately 70% of patients. In this scenario, it is necessary to perform an esophageal pH-impedance measurement, a procedure that allows to determine whether exposure to gastric acid is pathological. Of this group, patients with pathological acid exposure are diagnosed as true non-erosive reflux disease (NERD). If, in addition to not presenting esophageal lesions, they have a physiological exposure to gastric acid, they suffer from esophageal hypersensitivity or functional heartburn, which are functional disorders. These require a different approach from that of GERD or NERD, as the symptoms are not due to pathological exposure to gastric acid. The aim was to calculate the frequency of esophageal hypersensitivity and functional heartburn in patients with suspected NERD. This was a cross-sectional study. Data was collected by reviewing pH-impedance and manometry reports, 166 patients were selected. The frequency for functional disorders was 86.15%, being 46.9% for functional heartburn and 39.2% for esophageal hypersensitivity. The frequency of functional disorders was higher than that reported in previous studies. In conclusion, age, psychological conditions, dietary, cultural, ethnic or lifestyle factors inherent to our environment might play important roles in the development of functional disorders.

La enfermedad por reflujo gastroesofágico (ERGE) es una condición clínica en la que el reflujo gástrico provoca síntomas o daños en la mucosa esofágica. Se maneja con inhibidores de la bomba de protones; sin embargo, hasta el 45% de los pacientes con sospecha de ERGE son refractarios al tratamiento. Por lo cual, es necesario establecer un verdadero diagnóstico de ERGE mediante una endoscopia digestiva, que no muestra lesiones en aproximadamente el 70% de los pacientes. En este escenario, es necesario realizar una medición de pH-impedancia esofágica, procedimiento que permite determinar si la exposición al ácido gástrico es patológica. De este grupo, los pacientes con exposición patológica al ácido son diagnosticados como verdadera enfermedad por reflujo no erosiva (ERNE). Si además de no presentar lesiones esofágicas, tienen una exposición fisiológica al ácido gástrico, padecen hipersensibilidad esofágica o pirosis funcional, que son trastornos funcionales. Estos requieren un enfoque diferente al ERGE o ERNE, ya que los síntomas no se deben a una exposición patológica al ácido gástrico. El objetivo fue calcular la frecuencia de hipersensibilidad esofágica y pirosis funcional en pacientes con sospecha de ERNE. Este fue un estudio transversal. Los datos se recopilaron mediante la revisión de informes de pH-impedancia y manometría, se seleccionaron 166 pacientes. La frecuencia de trastornos funcionales fue de 86,15%, siendo 46,9% de pirosis funcional y 39,2% de hipersensibilidad esofágica. La frecuencia de trastornos funcionales fue superior a la reportada en estudios previos. En conclusión, la edad, las condiciones psicológicas, los factores dietéticos, culturales, étnicos o de estilo de vida inherentes a nuestro entorno podrían jugar un papel importante en el desarrollo de trastornos funcionales.

Nelson's Syndrome: A Narrative Review.

Nelson's syndrome (NS) is an uncommon disease occurring as a complication of bilateral adrenalectomy (BLA) in patients with persistent Cushing's disease (CD) due to an adrenocorticotropin-producing pituitary tumor. The first reports of this syndrome were done in the 50s, although its pathophysiology is still not understood. Every year, between 1.8 and 2.6 cases are thought to occur per million people. It is characterized by hyperpigmentation, elevated adrenocorticotropic hormone (ACTH) plasma levels, and typical signs and symptoms related to pituitary adenomas, such as visual deficits due to optic pathway compression or decreased hormone production from the adenohypophysis. NS represents a challenge due to the lack of accepted diagnostic criteria and the complexity of its treatment. Moreover, the development of stereotactic radiosurgery (SRS) in the last few years has become an essential but controversial strategy for this syndrome. This review presents a comprehensive overview of NS.

A new surgical technique for sutureless partial nephrectomy: renal sutureless device.

BACKGROUND: Several factors impact the preservation of renal function after partial nephrectomy. Warm ischemia time is the main modifiable surgical factor. Renorrhaphy represents the key of hemostasia, but it is associated with increase of warm ischemia time and complications. The aim of this study was to describe our initial surgical experience with a new surgical technique for sutureless partial nephrectomy, based on the application of our own developed renal-sutureless-device-RSD. METHODS: Between 2020-2021, 10 patients diagnosed with renal cell carcinoma stage cT1a-b cN0M0 with an exophytic component were operated using renal-sutureless-device-RSD. Surgical technique of sutureless partial nephrectomy with renal-sutureless-device-RSD is described in a step-by-step fashion. Clinical data was collected in a dedicated database. Presurgical, intraoperative, postoperative variables, pathology and functional results were evaluated. Medians and ranges of values for selected variables were reported as descriptive statistics. RESULTS: Partial nephrectomy was carried out with the use of renal-sutureless-device-RSD without renorrhaphy in all cases (70%cT1a-30%cT1b). Median tumor size was 3.15 cm (IQR: 2.5-4.5). R.E.N.A.L Score had a range between 4a-10. Median surgical time was 97.5 minutes (IQR 75-105). Renal artery clamping was only required in 4 cases, with a median warm ischemia time of 12.5 minutes (IQR 10-15). No blood transfusion, intraoperative and postoperative complications were noted. Free-of-disease margin rate achieved was 90%. Median length of stay was 2 days (IQR 2-2). Laboratory data on hemoglobin and hematocrit levels, as well as renal function tests, remained stable after partial nephrectomy. CONCLUSIONS: Our initial experience suggests that a sutureless PN using the RSD device is feasible and safe. Further investigation is needed to determine the clinical benefit of this technique.

Does Time and Size Matter in Retrograde Intrarenal Surgery? Results Analysis Using a Low-Pressure Technique.

PURPOSE: Kidney stone disease affects 5% of the population and is associated with non-negligible morbidity. Retrograde intrarenal surgery and percutaneous nephrolithotomy are the treatments of choice. We analyzed the results from our patients who underwent retrograde intrarenal surgery at controlled pressure. MATERIALS AND METHODS: We conducted an observational, descriptive, retrospective study of 403 patients who underwent retrograde intrarenal surgery at the Hospital Clínico Universitario Lozano Blesa (Zaragoza, Spain) between January 2013 and December 2019. RESULTS: The mean surgical time was 111.1 minutes, with a mean stone volume of 3.5 cm3 (maximum volume, 38.3 cm3). A total of 70 patients (17.3%) developed postoperative Clavien-Dindo complications-64 minor (91.4%) and 6 major (8.6%). In addition, 28 patients (6.9%) presented with an early complication (<3 months), with urinary tract infection and pyelonephritis being the most common. The stone-free rate was 69.0%, with a retreatment rate of 4.7%. CONCLUSIONS: Sex was statistically significantly related to the onset of minor Clavien postoperative complications (p = 0.001). Similarly, corticosteroid use was associated with the onset of major Clavien complications (p = 0.030). Neither surgical time nor stone volume was found to be statistically significantly related to the onset of Clavien postoperative complications or early complications.

The First Latin American Consensus on Superficial and Perforating Venous Mapping.

With the aim of obtaining a map which is useful as a diagnostic tool and therapeutical orientation, complementing the written report of duplex ultrasound venous study, Latin-American Scientific Societies of Phlebology, Vascular Surgery and Vascular Imaging were invited to participate, through their regional representatives, to the First Consensus of Superficial and Perforating Venous Mapping. A consensus process using a modified Delphi method was carried out. An International Working Group was formed, which developed a Prototype of the Venous Mapping that worked as a starting point for consensus, and was presented in a first virtual meeting of 54 experts (societies' representatives) when the methodology was explained. For the consensus process, two rounds of self-administrated questionnaires with feedback were used. In the first questionnaire a 100% consensus was obtained in the 15 statements (an agreement range of 85.2% to 100%) In the analysis of qualitative data, three categories according to the actions to implement were identified - actions which involved no action, minor changes and major changes. This analysis was used to build the second questionnaire, which reached a consensus in its six statements (agreement range of 87.1% to 98.1%). A final consensus on every field proposed was established with the approval of all the experts consulted and it was presented at a third online meeting. The document of the superficial and perforating venous mapping reached by consensus is presented hereafter.

Caracterización de pacientes no adherentes al tratamiento de hipertensión arterial / Characterization of patients not adherent to high blood pressure treatment

Introducción. La falta del cumplimiento terapéutico es un problema en el control de la hipertensión arterial. Objetivo. Caracterizar los pacientes no adherentes al tratamiento de hipertensión arterial en pobladores de la V Región Sanitaria del Paraguay. Material y Métodos: Estudio transversal que incluyó pacientes hipertensos conocidos que se encontraban en tratamiento para la hipertensión arterial. Se utilizó la Escala de adherencia a la medicación de Morisky 8 ítems que mide comportamientos de adherencia específicos asociados a la ingesta de medicamentos. Resultados. Se incluyeron163 pacientes, todos considerados no adherentes al tratamiento según la Escala Morinsky MMAS-8. El 52,2% tenía más de 40 años, 66,3% del sexo femenino, 40,5% de nivel universitario, 57,1% casado y el 87,7% vive con la familia. El 66,9% informó trabajar hasta 8 horas por día y el 58,3% con ingresos mayores a 2 salarios mínimos. En cuanto al conocimiento el 53,9% fue alto. El 50% de los pacientes declaró utilizar plantas medicinales para su tratamiento, el 7,4% con depresión frecuentemente o casi siempre y el 22,1% ansiedad frecuentemente o casi siempre. En cuanto a las preguntas de no adherencia, el 53,4% olvidó tomar alguna vez su medicación o dejar de tomarla cuando siente que está bajo control (53,3%),el 44,2% deja de tomar su medicación porque se siente peor con ella y el 46,5% la olvida cuando viaja. Conclusión. La no adherencia en los pacientes de la V Región fue alarmante, por tanto, se deben de realizar medidas de acción respecto a las mismas. Palabras Clave: hipertensión; presión arterial; cumplimiento y adherencia al tratamiento; epidemiologia

Introduction. The lack of therapeutic compliance is a problemto control high blood pressure.Objective. To characterize patients who do not adhere to the treatment of arterial hypertension in the Vsanitary region of Paraguay. Material and Methods: A cross-sectional study was carried out in known hypertensive patients who were undergoing treatment for high blood pressure. The 8-item Morisky Medication Adherence Scale was used, which measures specific adherence behaviors associated with medication intake. Results.163 patients were included, all considered non-adherent to treatment according to the Morinsky MMAS-8 Scale. 52.2% were over 40 years old, 66.3% female, 40.5% with university level, 57.1% married, and 87.7% lived with their family. 66.9% reported working up to 8 hours per day and 58.3% with income greater than 2 minimum wages. Regarding knowledge, 53.9% was high. 50% of the patients declared using medicinal plants for their treatment, 7.4% with depression frequently or almost always and 22.1% with anxiety frequently or almost always. Regarding the non-adherence questions, 53.4% ever forgot to take their medication or stopped taking it when they feel they are under control (53.3%), 44.2% stop taking their medication because they feel worse with it and 46.5% forget it when traveling. Conclusion. The non-adherence in patients from Region V was alarming, therefore, action measures must be taken regarding them. Key words:hypertension; blood pressure; treatment adherence and compliance; epidemiology

A Patient With Epilepsy, Ganglioglioma, and Oligodendroglioma With Anaplastic Foci in the Same Left Frontoparietal Lesion: A Case Report.

Gangliogliomas are central nervous system (CNS) tumors with a neuronal and glial component considered grade 1 according to the World Health Organization (WHO) classification. On the other hand, oligodendrogliomas are diffuse infiltrating gliomas (CNS WHO grade 2 or 3) characterized by both an isocitrate dehydrogenase mutation and 1p/19q co-deletion. There have been some cases with the coexistence of these two tumors. Here, we present the case of a low-growing left frontoparietal brain tumor with a definite diagnosis of ganglioglioma (CNS WHO grade 1) and oligodendroglioma (CNS WHO grade 2) with areas of anaplastic oligodendroglioma (CNS WHO grade 3) in a patient with long-standing epilepsy.

Síndrome de Insensibilidad Androgénica: presentación de un caso de discordancia entre ecografía pre y postnatal y estudios genéticos moleculares

Introducción: El síndrome de insensibilidad androgénica es un desorden genético y un tipo de trastorno del desarrollo sexual. Es la feminización de los genitales externos evaluados al nacimiento cuando el genotipo es 46, XY. Objetivo: Presentar la clínica, estudios moleculares, ultrasonidos durante el embarazo y del recién nacido con trastorno de diferenciación sexual. Caso Clínico: Femenina de 35 años con tercer embarazo, feto único, con resultado de cribado genético prenatal no invasivo ampliado de aneuploidías cromosómicas y determinación del sexo fetal a la semana 11 de gestación con sexo genético masculino, ultrasonido con ángulo del tubérculo genital de menos de 30° indicativo de sexo fenotípico femenino y ecografía postnatal con sexo gonadal masculino. Panel molecular genético con una variante patogénica para el Gen AR, en hemicigosis, asociado a Síndrome de Insensibilidad Androgénica. Conclusión: La discordancia sexual fenotipo-genotipo puede indicar una condición genética, cromosómica o bioquímica subyacente. El manejo conjunto interdisciplinario y el consejo genético permite el diagnóstico molecular neonatal temprano de la condición. (provisto por Infomedic International)

Introduction: Androgen insensitivity syndrome is a genetic disorder and a type of sexual development disorder. It is characterized by the evident feminization of the external genitalia at birth in an individual with the 46, XY genotype. Aim: To present the clinic, molecular studies, obstetric ultrasonography of the first trimester and ultrasound of the newborn with sexual differentiation disorder. Clinic case: 35-year-old female with third pregnancy, singleton fetus, with extended non-invasive prenatal genetic screening for chromosomal aneuploidies and fetal sex determination at week 11 of gestation with male genetic sex, ultrasound with genital tubercle angle less than 30° indicative of female phenotypic sex and postnatal ultrasound with male gonadal sex. Genetic molecular panel with a pathogenic variant for the AR gene, in hemi zygosis. Conclusion: Early detection of phenotype-genotype sexual discordance is important as it may indicate an underlying genetic, chromosomal, or biochemical condition, allowing timely critical counseling and postnatal treatment. (provided by Infomedic International)

Glioblastoma Treatment: State-of-the-Art and Future Perspectives.

(1) Background: Glioblastoma is the most frequent and lethal primary tumor of the central nervous system. Through many years, research has brought various advances in glioblastoma treatment. At this time, glioblastoma management is based on maximal safe surgical resection, radiotherapy, and chemotherapy with temozolomide. Recently, bevacizumab has been added to the treatment arsenal for the recurrent scenario. Nevertheless, patients with glioblastoma still have a poor prognosis. Therefore, many efforts are being made in different clinical research areas to find a new alternative to improve overall survival, free-progression survival, and life quality in glioblastoma patients. (2) Methods: Our objective is to recap the actual state-of-the-art in glioblastoma treatment, resume the actual research and future perspectives on immunotherapy, as well as the new synthetic molecules and natural compounds that represent potential future therapies at preclinical stages. (3) Conclusions: Despite the great efforts in therapeutic research, glioblastoma management has suffered minimal changes, and the prognosis remains poor. Combined therapeutic strategies and delivery methods, including immunotherapy, synthetic molecules, natural compounds, and glioblastoma stem cell inhibition, may potentiate the standard of care therapy and represent the next step in glioblastoma management research.

Resistencia antibiótica de Helicobacter pylori en la población peruana: una revisión sistemática y metaanálisis sobre su prevalencia en la población general

La infección por Helicobacter pylori es bastante común a nivel mundial, y tiene asociación con el adenocarcinoma gástrico. Las altas tasas de resistencia encontradas en países latinoamericanos justifican la investigación de tasas de resistencia local, lo que podría mejorar el enfoque terapéutico y las tasas de erradicación. El objetivo es evaluar la prevalencia de la resistencia de Helicobacter pylori a los antibióticos de uso común en Perú. Se incluyeron todos los estudios en población peruana que revelaron tasas de resistencia antibiótica de Helicobacter pylori. Se realizó una búsqueda sistemática de la literatura hasta enero del 2021, utilizando PubMed y otras bases de datos. Para el grupo de estudios de pacientes con punto de corte EUCAST, la resistencia fue la siguiente: Amoxicilina 14% (IC 95%: 6-25), Claritromicina 43% (IC 95%: 30-57), Metronidazol 58% (IC 95%: 22-90) y Quinolonas 51% (IC 95%: 38-64). Para el grupo de estudios de muestras con punto de corte EUCAST, los siguientes: Amoxicilina 57% (IC del 95%: 51-63), Claritromicina 35% (IC 95% 30-41), Metronidazol 67% (IC 95%: 62-72) y Tetraciclina 4% (IC 95%: 2-7). Se encontró una alta resistencia antibiótica de Helicobacter pylori en la mayoría de los grupos estudiados, aunque con heterogeneidad entre los estudios. La tasa de resistencia a tetraciclinas fue baja y los estudios mostraron ser homogéneos.

Helicobacter pylori infection is quite common worldwide and is associated with gastric adenocarcinoma. The high rates of resistance found in Latin American countries justify the investigation of local resistance rates, which could improve the therapeutic approach and eradication rates. The objective is to evaluate the prevalence of resistance in Peru of Helicobacter pylori to commonly used antibiotics. All studies in the Peruvian population that revealed rates of antibiotic resistance of Helicobacter pylori were included. A systematic literature search was conducted up to January 2021, using PubMed and other databases. For the group of patient studies with the EUCAST cut-off point, the resistance was as follows: Amoxicillin 14% (95% CI: 6-25), Clarithromycin 43% (95% CI: 30-57), Metronidazole 58% (95% CI: 22-90) and 51% Quinolones (95% CI: 38-64). For the EUCAST cut-off group of sample studies, the following: Amoxicillin 57% (95% CI: 51-63), Clarithromycin 35% (95% CI 30-41), Metronidazole 67% (95% CI: 62-72) and 4% Tetracycline (95% CI: 2-7). A high antibiotic resistance of Helicobacter pylori was found in most of the groups studied, although with heterogeneity between the studies. The rate of resistance to tetracyclines was low and the studies were shown to be homogeneous.

Treatment of old submacular hemorrhage by subretinal endoscopic surgery and intraoperative subretinal endoscopic findings.

PURPOSE: We report a case of old submacular hemorrhage (SMH) due to polypoidal choroidal vasculopathy (PCV). Subretinal endoscopic surgery (SES) was performed, which improved visual function. In addition, we show the intraoperative findings of subretinal aberrant PCV vessels as seen under endoscopic observation, which cannot be observed by microscopic surgery. OBSERVATIONS: A 71-year-old Japanese man presented with an old dehemoglobinized SMH due to PCV in his left eye. At the time of presentation, three weeks had already passed after the onset of the patient's symptoms, and the best-corrected visual acuity (BCVA) was 20/200. SES was performed to remove the SMH and treat the subretinal PCV lesions. After creating retinal detachment using a 38-gauge cannula, three subretinal 25-gauge trocars were inserted from the sclera to the subretinal space. Then, SES was performed under ophthalmic endoscopic observation with continued subretinal irrigation for maintaining the retinal detachment. After removal of the SMH, subretinal polyp-shaped nodular vascular lesions (polyps) and a branching vascular network, which is located inside the retinal pigmented epithelium, were identified. The sites that presumably originated from the aberrant vessels of the PCV and the associated polyps were coagulated using endodiathermy. After the subretinal procedure, the retina was flattened with fluid/air exchange, and silicone oil (SO) was injected into the vitreous cavity. The SMH completely disappeared after surgery. Although at one-month follow-up BCVA (20/250) was slightly worse than that before surgery, there was an improvement in postoperative retinal sensitivity in the macula compared to that before surgery. At the three-month follow-up, the SO was removed. The BCVA was 20/200 one month after SO removal. No postoperative complications occurred. Additional treatment was not required, including anti-vascular endothelial growth factor therapy, for PCV progression or SMH recurrence in the left eye till the final visit two years after surgery. CONCLUSION AND IMPORTANCE: SES could effectively remove the old SMH, and the activity of PCV was suppressed by intraoperative subretinal coagulation. The retinal sensitivity of the macula improved after the SES. In addition, we observed subretinal polyps and a branching vascular network located internal to the retinal pigmented epithelium under intraoperative subretinal endoscopic observation. SES is a good surgical option for the removal of old SMH or treatment of subretinal lesions.

LATE RECURRENCE OF CHOROIDAL NEOVASCULARIZATION IN PATIENTS WITH MULTIFOCAL CHOROIDITIS: CLINICAL SURVEILLANCE IN PERPETUITY.

PURPOSE: To report a very late recurrence of choroidal neovascularization (CNV) in elderly patients with noninfectious multifocal choroiditis (MFC). METHODS: Retrospective case series of patients with MFC with confirmed recurrence of CNV. Choroidal neovascularization was diagnosed with multimodal imaging, including optical coherence tomography angiography. Multifocal choroiditis-associated CNV eyes were treated with intravitreal injections of anti-vascular endothelial growth factor medication. RESULTS: Four eyes of three patients were included in our study, with a mean (range) age of 73 years (67-78). The period between the original CNV and the recurrence was 53 years, with a range of 48-60 years. The mean number (range) of injections given after the late recurrence per eye was 7 (5-11). The mean duration (range) of follow-up post-treatment initiation was 93 (40-122) weeks. All eyes improved to 20/30 visual acuity or better at 6 months after initial treatment. CONCLUSION: Patients with MFC are never exempt from recurrent CNV, warranting follow-up in perpetuity. Age-related factors are important to consider which may increase the susceptibility for activating MFC-associated CNV in elderly people. Macular neovascularization could respond to a standard approach to management, in these patients with MFC, by a judicious use of intravitreal injections of anti-vascular endothelial growth factor therapy.

[Antibiotic resistance of Helicobacter pylori in the Peruvian population: a systematic review and meta-analysis of its prevalence in the general population]. / Resistencia antibiótica de Helicobacter pylori en la población peruana: una revisión sistemática y metaanálisis sobre su prevalencia en la población general.

Helicobacter pylori infection is quite common worldwide and is associated with gastric adenocarcinoma. The high rates of resistance found in Latin American countries justify the investigation of local resistance rates, which could improve the therapeutic approach and eradication rates. The objective is to evaluate the prevalence of resistance in Peru of Helicobacter pylori to commonly used antibiotics. All studies in the Peruvian population that revealed rates of antibiotic resistance of Helicobacter pylori were included. A systematic literature search was conducted up to January 2021, using PubMed and other databases. For the group of patient studies with the EUCAST cut-off point, the resistance was as follows: Amoxicillin 14% (95% CI: 6-25), Clarithromycin 43% (95% CI: 30-57), Metronidazole 58% (95% CI: 22-90) and 51% Quinolones (95% CI: 38-64). For the EUCAST cut-off group of sample studies, the following: Amoxicillin 57% (95% CI: 51-63), Clarithromycin 35% (95% CI 30-41), Metronidazole 67% (95% CI: 62-72) and 4% Tetracycline (95% CI: 2-7). A high antibiotic resistance of Helicobacter pylori was found in most of the groups studied, although with heterogeneity between the studies. The rate of resistance to tetracyclines was low and the studies were shown to be homogeneous.