Germline pathogenic variants associated with triple-negative breast cancer in US Hispanic and Guatemalan women using hospital and community-based recruitment strategies.

PURPOSE: Recruit and sequence breast cancer subjects in Guatemalan and US Hispanic populations. Identify optimum strategies to recruit Latin American and Hispanic women into genetic studies of breast cancer. METHODS: We used targeted gene sequencing to identify pathogenic variants in 19 familial breast cancer susceptibility genes in DNA from unselected Hispanic breast cancer cases in the US and Guatemala. Recruitment across the US was achieved through community-based strategies. In addition, we obtained patients receiving cancer treatment at major hospitals in Texas and Guatemala. RESULTS: We recruited 287 Hispanic US women, 38 (13%) from community-based and 249 (87%) from hospital-based strategies. In addition, we ascertained 801 Guatemalan women using hospital-based recruitment. In our experience, a hospital-based approach was more efficient than community-based recruitment. In this study, we sequenced 103 US and 137 Guatemalan women and found 11 and 10 pathogenic variants, respectively. The most frequently mutated genes were BRCA1, BRCA2, CHEK2, and ATM. In addition, an analysis of 287 US Hispanic patients with pathology reports showed a significantly higher percentage of triple-negative disease in patients with pathogenic variants (41% vs. 15%). Finally, an analysis of mammography usage in 801 Guatemalan patients found reduced screening in women with a lower socioeconomic status (p < 0.001). CONCLUSION: Guatemalan and US Hispanic women have rates of hereditary breast cancer pathogenic variants similar to other populations and are more likely to have early age at diagnosis, a family history, and a more aggressive disease. Patient recruitment was higher using hospital-based versus community enrollment. This data supports genetic testing in breast cancer patients to reduce breast cancer mortality in Hispanic women.

Sonographic characterization and surveillance of paravaginal smooth muscle tumor of uncertain malignant potential.

Sonographic characterization and surveillance of paravaginal smooth muscle tumor of uncertain malignant potential. (A1) Transvaginal ultrasound with probe placed over the right vaginal wall, showing a well-defined round mass with regular contours, a mostly hypoechoic and heterogeneous echotexture, and edge shadowing, deep to the right distal third of the right vagina. (A2) Multifrequency linear probe (9-14 MHz) placed over the right labium majus revealing hyperechoic striations (arrows on A1-A2) and central flow (arrowheads on A2). (B1) Resected solid white-tan mass of bland consistency. (B2) Hematoxylin-eosin microscopy (40X) showing fusiform cells, with mild to moderate atypia. (C1) Repeat transvaginal ultrasound six-years later showing a recurrent solid oval-shaped mass with regular contour, a mostly hypoechoic heterogeneous echotexture, and an anechoic area inside the solid mass (asterisk on C2) that could represent a focus of necrosis.

Germline variants in hereditary breast cancer genes are associated with early age at diagnosis and family history in Guatemalan breast cancer.

PURPOSE: Mutations in hereditary breast cancer genes play an important role in the risk for cancer. METHODS: Cancer susceptibility genes were sequenced in 664 unselected breast cancer cases from Guatemala. Variants were annotated with ClinVar and VarSome. RESULTS: A total of 73 out of 664 subjects (11%) had a pathogenic variant in a high or moderate penetrance gene. The most frequently mutated genes were BRCA1 (37/664, 5.6%) followed by BRCA2 (15/664, 2.3%), PALB2 (5/664, 0.8%), and TP53 (5/664, 0.8%). Pathogenic variants were also detected in the moderate penetrance genes ATM, BARD1, CHEK2, and MSH6. The high ratio of BRCA1/BRCA2 mutations is due to two potential founder mutations: BRCA1 c.212 + 1G > A splice mutation (15 cases) and BRCA1 c.799delT (9 cases). Cases with pathogenic mutations had a significantly earlier age at diagnosis (45 vs 51 years, P < 0.001), are more likely to have had diagnosis before menopause, and a higher percentage had a relative with any cancer (51% vs 37%, P = 0.038) or breast cancer (33% vs 15%, P < 0.001). CONCLUSIONS: Hereditary breast cancer mutations were observed among Guatemalan women, and these women are more likely to have early age at diagnosis and family history of cancer. These data suggest the use of genetic testing in breast cancer patients and those at high risk as part of a strategy to reduce breast cancer mortality in Guatemala.

A review of the main histopathological findings in coronavirus disease 2019.

Coronavirus disease 2019 (COVID-19), caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) virus, has been declared by the World Health Organization as an emerging public health problem of global importance and classified as a pandemic. SARS-CoV-2 infection can result in diverse, multiorgan pathology, the most significant being in the lungs (diffuse alveolar damage in its different phases, microthrombi, bronchopneumonia, necrotizing bronchiolitis, viral pneumonia), heart (lymphocytic myocarditis), kidney (acute tubular injury), central nervous system (microthrombi, ischemic necrosis, acute hemorrhagic infarction, congestion, and vascular edema), lymph nodes (hemophagocytosis and histiocytosis), bone marrow (hemophagocytosis), and vasculature (deep vein thrombosis). An understanding of the spectrum and frequency of histologic findings in COVID-19 is essential for gaining a better understanding of disease pathophysiology and its ongoing impact on public health. To this end, we conducted a systematic meta-analysis of histopathologic observations to date and review the reported findings.

La importancia de la autopsia en epidemias / The importance of autopsy in epidemics

Se describe la importancia de realizar las autopsias en el momento actual de la pandemia Covid-19, aunque algunos países han tomado la decisión de no permitir las autopsias, lo cual limita investigar adecuadamente la fisiopatología de la enfermedad y procurar adecuados tratamientos ya que es una herramienta que puede facilitar mejores diagnósticos y tratamientos, lo que puede contribuir a disminuir los daños de la enfermedad.

Correction to: Low-cost HPV testing and the prevalence of cervical infection in asymptomatic populations in Guatemala.

Following publication of the original article [1], an error was reported in the tagging of Joël Fokom Domgue in the author group. The tagging in this correction article has been fixed.

Tuberculosis en estudios post mortem: estudio observacional de 10 años en el Hospital General San Juan de Dios, Guatemala / Post mortem examination in tuberculosis: A 10 year observational study in the San Juan de Dios General Hospital, Guatemala

Introducción: La tuberculosis constituye un problema importante de salud a nivel mundial y más aún, la detección temprana y el tratamiento adecuado de la misma en países subdesarrollados. Los estudios post mortem (EPM) han permitido el diagnóstico de tuberculosis, aún en casos sin diagnóstico clínico de la enfermedad. Objetivo: Conocer el número de casos con diagnóstico de tuberculosis en EPM, durante un período de 10 años, en el Hospital General San Juan de Dios (HGSJDD) de Guatemala. Material y métodos: Se revisaron los informes finales de EPM del HGSJDD de Guatemala, de abril del 2006 a marzo del 2016. Se identificaron los casos con diagnóstico de tuberculosis y se revisaron cortes histológicos y tinciones especiales de los mismos. Resultados: En los 10 años revisados, se realizaron 859 EPM, en 21 casos se diagnosticó tuberculosis, 18 en adultos y 3 en niños. La mayoría correspondió a tuberculosis pulmonar (80,95%). En ninguno de los casos se había realizado el diagnóstico clínico de tuberculosis y solo en 5 se tuvo sospecha clínica de la enfermedad, pero ninguno fue investigado. Ningún paciente tenía documentado VIH/sida. Conclusión: El EPM sigue siendo de importancia en el estudio de las enfermedades. En el presente estudio se encontró el diagnóstico de 21 casos de tuberculosis, que no se habían diagnosticado en las evaluaciones clínicas

Introduction: Tuberculosis is a very important health problem worldwide. Early detection and adequate treatment of this disease is also a problem in low income countries. Post mortem examination has enabled tuberculosis to be diagnosed, even in cases without a clinical diagnosis of the disease. Objective: To determine the number of tuberculosis cases diagnosed on autopsy during a period of 10 years, at the San Juan de Dios General Hospital, Guatemala (SJDGH). Material and methods: The final autopsy reports at the between April 2006 and March 2016 were reviewed. H&E and special stains in cases with a diagnosis of tuberculosis were revised for confirmation. Results: During the 10 years reviewed, 859 autopsies had been carried out, 21 of which had the diagnosis of tuberculosis; 18 were adults and 3 were children and the majority (80.95%) were cases of pulmonary tuberculosis. However, in only 5 cases had there been a clinical suspicion, but without further investigation and none had a confirmed clinical diagnosis of tuberculosis. No patients had documented HIV/AIDS. Conclusion: Autopsy continues to be important in the study of disease. In this retrospective study, 21 cases of tuberculosis in 21 cases were found in patients with no clinical diagnosis of the disease

[Post mortem examination in tuberculosis: A 10 year observational study in the San Juan de Dios General Hospital, Guatemala]. / Tuberculosis en estudios post mortem: estudio observacional de 10 años en el Hospital General San Juan de Dios, Guatemala.

INTRODUCTION: Tuberculosis is a very important health problem worldwide. Early detection and adequate treatment of this disease is also a problem in low income countries. Post mortem examination has enabled tuberculosis to be diagnosed, even in cases without a clinical diagnosis of the disease. OBJECTIVE: To determine the number of tuberculosis cases diagnosed on autopsy during a period of 10 years, at the San Juan de Dios General Hospital, Guatemala (SJDGH). MATERIAL AND METHODS: The final autopsy reports at the between April 2006 and March 2016 were reviewed. H&E and special stains in cases with a diagnosis of tuberculosis were revised for confirmation. RESULTS: During the 10 years reviewed, 859 autopsies had been carried out, 21 of which had the diagnosis of tuberculosis; 18 were adults and 3 were children and the majority (80.95%) were cases of pulmonary tuberculosis. However, in only 5 cases had there been a clinical suspicion, but without further investigation and none had a confirmed clinical diagnosis of tuberculosis. No patients had documented HIV/AIDS. CONCLUSION: Autopsy continues to be important in the study of disease. In this retrospective study, 21 cases of tuberculosis in 21 cases were found in patients with no clinical diagnosis of the disease.

Melanoma primario de vejiga urinaria: presentación de caso / Primary melanoma of the bladder. A case report

Los melanomas de vejiga urinaria son poco frecuentes. Presentamos el caso de una paciente femenina de 58 años, quien consultó por disuria y hematuria de 4 meses de evolución. Se le realizó cistoscopia y biopsia, la cual fue interpretada como melanoma invasivo. Posteriormente se realizó cistectomía parcial, en la cual se diagnosticó melanoma, confirmado por positividad de las células neoplásicas para Melan-A y HMB-45 en estudio de inmunohistoquímica. Se demostró invasión neoplásica de todo el espesor de la capa muscular y de bordes quirúrgicos. Cuatro meses después se recibió vejiga urinaria de 13×7×5cm, en la cual se encontró, además del melanoma, melanosis y nevo melanocítico en vejiga urinaria. El nevo melanocítico se demostró mediante positividad a anticuerpos melanocíticos, de células no atípicas en capa basal de urotelio vecino y distante al tumor. La paciente sobrevivió 9 meses

Primary melanoma of the urinary bladder is rare. We report a case of a 58-year-old woman, who presented with a 4 month history of dysuria and hematuria. A biopsy indicated a diagnosis of invasive melanoma and a partial cystectomy was performed. The neoplasm had invaded the entire thickness of the bladder wall and the neoplastic cells were positive for Melan A and HMB-45. Four months later a urinary bladder measuring 13×7×5cm was sent for histopathology. Melanoma, melanosis and a melanocytic nevus were seen; the latter was confirmed by the positivity to melanocytic markers of non-atypical cells in both the urothelial basal layer and areas distant from the tumour. The patient died nine months later

[Primary melanoma of the bladder. A case report]. / Melanoma primario de vejiga urinaria: presentación de caso.

Primary melanoma of the urinary bladder is rare. We report a case of a 58-year-old woman, who presented with a 4 month history of dysuria and hematuria. A biopsy indicated a diagnosis of invasive melanoma and a partial cystectomy was performed. The neoplasm had invaded the entire thickness of the bladder wall and the neoplastic cells were positive for Melan A and HMB-45. Four months later a urinary bladder measuring 13×7×5cm was sent for histopathology. Melanoma, melanosis and a melanocytic nevus were seen; the latter was confirmed by the positivity to melanocytic markers of non-atypical cells in both the urothelial basal layer and areas distant from the tumour. The patient died nine months later.

Low-cost HPV testing and the prevalence of cervical infection in asymptomatic populations in Guatemala.

BACKGROUND: A low cost and accurate method for detecting high-risk (HR) human papillomavirus (HPV) is important to permit HPV testing for cervical cancer prevention. We used a commercially available HPV method (H13, Hybribio) which was documented to function accurately in a reduced volume of cervical specimen to determine the most prevalent HPV types and the distribution of HPV infections in over 1795 cancer-free women in Guatemala undergoing primary screening for cervical cancer by cytology. METHODS: HR-HPV detection was attempted in cervical samples from 1795 cancer-free women receiving Pap smears using the Hybribio™ real-time PCR assay of 13 HR types. The test includes a globin gene internal control. HPV positive samples were sequenced to determine viral type. Age-specific prevalence of HPV was also assessed in the study population. RESULTS: A total of 13% (226/1717) of women tested HPV+, with 78 samples (4.3%) failing to amplify the internal control. The highest prevalence was found in younger women (< 30 years, 22%) and older ones (≥60 years, 15%). The six most common HR-HPV types among the 148 HPV+ typed were HPV16 (22%), HPV18 (11%), HPV39 (11%), HPV58 (10%), HPV52 (8%), and HPV45 (8%). CONCLUSIONS: In this sample of cancer free women in Guatemala, HPV16 was the most prevalent HR type in Guatemala and the age-specific prevalence curve peaked in younger ages. Women in the 30-59-year age groups had a prevalence of HR-HPV of 8%, however, larger studies to better describe the epidemiology of HPV in Guatemala are needed.

Prevalencia de enfermedades infecciosas crónicas en autopsias clínicas / Prevalence of chronic infectious diseases in clinical autopsies

Las enfermedades infecciosas crónicas constituyen un problema de salud pública mundial al ser importante causa de mortalidad. En Guatemala no existen estudios postmortem recientes que aborden dicho tema, por lo que se desconoce su prevalencia en autopsias clínicas del país. El presente estudio se delimita las siguientes enfermedades: tuberculosis, candidiasis, neurocisticercosis, aspergilosis, coccidioidomicosis e histoplasmosis. Objetivo: determinar la prevalencia de las enfermedades infecciosas crónicas en autopsias clínicas. Material y Métodos: investigación descriptiva retrospectiva, basada en los datos de 909 boletas de protocolos completos de autopsias clínicas realizadas del año 2006 al 2015 en el Departamento de patología en el Hospital General San Juan de Dios de Guatemala

La importancia de las publicaciones científicas en el ranking de las universidades: reto para una universidad pública / The importance of scientific publications on the ranking of universities: challenge for a public university

Antecedentes: La evaluación de la excelencia académica de las universidades toma en cuenta varios indicadores, uno de los más determinantes es la investigación científica, que a su vez es usualmente medida por el número y el impacto de las publicaciones en revistas indexadas. Las universidades necesitan saber su posición en relación al resto de universidades del mundo para desarrollar planes de mejoramiento. Objetivo: estimar cuánto del crédito por investigación que la Universidad de San Carlos de Guatemala (USAC) merece, pudiera estar siendo detectado y evaluado por las entidades dedicadas a estratificar las universidades según su rendimiento académico. Material y método: estudio exploratorio de datos obtenidos de PUBMED sobre artículos científicos atribuibles a la USAC, publicados antes del 2017. Los datos bibliométricos analizados incluyeron la cantidad de artículos y el número de citas por articulo...(AU)

Tumores del estroma gastrointestinal / Gastrointestinal stromal tumors

Antecedentes: Los tumores del estroma gastrointestinal (TEG) son los tumores mesenquimales más comunes del tracto gastrointestinal (TGI), se considera que surgen de las células de Cajal, ocurren principalmente en adultos mayores (60-65 años) y se localizan en estómago (50%-70%), intestino delgado (25%-35%), colon-recto (5%-10%) y esófago (<5%). La mayoría se presenta de manera esporádica y hasta el 70% son clínicamente sintomáticos. El diagnóstico definitivo se realiza en el estudio anatomopatológico. El pronóstico de estos tumores se determina por el tamaño, recuento mitótico y localización del tumor, clasificandose: riesgo muy bajo, riesgo bajo, riesgo intermedio y riesgo alto. La cirugía es la opción terapéutica principal...

Background: Gastrointestinal stromal tumors (GIST) are the most common mesenchymal tumors of the gastrointestinal tract (GI), areconsidered to arise from the Cajal cells. Theyoccur mainly in older adults, 60-65 years. Theypresent in the stomach (50%-70%), small intestine (25%-35%), colon and rectum (5%-10%)and esophagus (<5%). Most GISTs are sporadicand are clinically symptomatic. The definitivediagnosis is made through anatomic pathology study. To determine the prognosis of this type of tumors we use the size, mitotic count and location of the tumor, classified them in: very low risk, low risk, intermediate risk and high risk. Surgery is the main treatment...

Neurocisticercosis en Guatemala / Neurocysticercosis in Guatemala

La neurocisticercosis es causa de epilepsia tardía en muchos países, principalmente en los países en vías de desarrollo. Se adquiere al ingerir huevos de Taenia solium en alimentos y agua contaminados. La Taenia solium se adquiere ingiriendo el cisticerco, cuando consumimos carne de cerdo mal cocida. Presentamos los hallazgos de 30 pacientes operados en el Hospital General San Juan de Dios de la ciudad de Guatemala, de junio 2007 a junio 2012, de los cuales 17 son del sexo femenino y 13 del sexo masculino; el rango de edad fue de 11 a 65 años y la década de mayor presentación fue de 21 a 30 años (12 pacientes). Se revisaron los expedientes de 18 pacientes, encontrando que las lesiones fueron 7 en parénquima, 7 intraventriculares y 4 subaracnoideas. Los síntomas más referidos fueron náuseas, cefalea y vómitos. El diagnóstico por imagen se hizo en 11 casos por tomografía axial computarizada y en 7 por resonancia magnética. En 3 hubo eosinofilia. Se realizó la clasificación histológica del estadio del cisticerco, encontrando 12 en el estadio vesicular, 5 en el estadio vesicular coloidal, 12 en el estadio granular nodular y uno en el estadio calcificado (AU)

Neurocysticercosis causes late epilepsy in many countries, but mainly in developing countries. It is acquired by ingesting Taenia solium eggs in contaminated food and water. Taenia solium is acquired by the intake of the cysticercus in undercooked pork. We present 30 patients from the General Hospital San Juan de Dios in Guatemala City, who underwent surgery between June 2007 and June 2012. 17 were female and 13 male, the age range was 11-65 years with a majority of patients (12) aged between 21-30 years. We reviewed the records of 18 patients, finding 7 parenchymal lesions, 7 intraventricular lesions, and 4 subarachnoideal lesions. The most frequent symptoms were nausea, vomiting and headaches. Diagnosis by imaging was carried out in 11 cases by CT scan and 7 by MRI. Three patients had eosinophilia. Histological classification was performed to stage the cysticerci: 12 were in the vesicular stage, 5 in the colloidal vesicular stage, 12 in the granular nodular stage and 1 in the calcified stage (AU)

Prevalencia de cáncer en los órganos de los pacientes diagnosticados en el departamento de patología Dr. Carlos Martínez Durán del Hospital General San Juan de Dios, y tres laboratorios privados de patología. Ciudad de Guatemala, período 2,006 al 2,010 / Prevalence of cancer in organs of patients diagnosed in the Department of Pathology Dr. Carlos Martinez Duran of General San Juan de Dios Hospital, and three private pathology laboratories. Guatemala City, the period 2,006 2,010

Objetivo: Determinar la prevalencia de los organos afectados por cáncer diagnosticados en el Departamento de Patología Dr. Carlos Martínez Durán del Hospital General San Juan de Dios, Laboratorio de Patología Dr. Víctor Argueta, Laboratorio de Patología Dr. Roberto Orozco y Laboratorio de Patología y Citología Dr. Miguel Garcés y Dra. Helen Morales, ubicados en la ciudad de Guatemala, años 2,006-2,010. Metodología: La investigación está regida por un estudio cuantitativo, descriptivo, no experimental, retrospectivo, realizado en tres laboratorios privados de patología...

Perforación intestinal secundaria a amebiasis / Amebiasis intestinal perforation secondary

La amebiasis intestinal es una enfermedad frecuente en países en desarrollo, que es común en regiones tropicales y subtropicales, así como en regiones con servicios sanitarios deficientes. Presentamos el caso de un paciente de 74 años de edad, sexo masculino, originario y residente de la ciudad de Guatemala, quién cursó una diarrea y dolor abdominal. Fue intervenido quirúrgicamente por abdomen agudo, con resección intestinal extensa por perforaciones. En el estudio de anatomía patológica se realizó el diagnóstico de colitis amebiana con perforaciones y peritonitis.

Intestinal amoebiasis is a disease common indeveloping countries, which is common in tropicaland subtropical regions, as well as in regions withpoor sanitation. We report the case of a 74-year-oldmale, resident of Guatemala City, who presented withdiarrhea and abdominal pain. He had a laparatomy foracute abdomen, undergoing wide intestinal resectiondue to perforations. The pathology diag-nosis wasamoebic colitis with perforations and peritonitis.