Dysgerminoma Probably Due to a Novel SOHLH1-pathogenic Variant Causing Familial Ovarian Dysgenesis.

Pathogenic variants of the SOHLH1 gene are responsible for an autosomal recessive form of ovarian dysgenesis; this gene encodes a transcription factor expressed early in spermatogonia and oocytes and contributes to folliculogenesis. Previously, four affected women from two unrelated families reported homozygous variants in the SOHLH1 gene, but none had a history of gonadal malignancy or a histologic description. We present two sisters and their paternal great-aunt with a history of primary amenorrhea, pubertal delay, and hypergonadotrophism who came from an inbred Mexican family.

Inherited bone marrow failure syndromes: phenotype as a tool for early diagnostic suspicion at a major reference center in Mexico.

The inherited bone marrow failure syndromes (IBMFSs) are a group of rare disorders characterized by bone marrow failure (BMF), physical abnormalities, and an increased risk of neoplasia. The National Institute of Pediatrics (INP) is a major medical institution in Mexico, where patients with BMF receive a complete approach that includes paraclinical tests. Readily recognizable features, such as the hematological and distinctive physical phenotypes, identified by clinical dysmorphologists, remain crucial for the diagnosis and management of these patients, particularly in circumstances where next-generation sequencing (NGS) is not easily available.

Fanconi anemia and dyskeratosis congenita/telomere biology disorders: Two inherited bone marrow failure syndromes with genomic instability.

Inherited bone marrow failure syndromes (IBMFS) are a complex and heterogeneous group of genetic diseases. To date, at least 13 IBMFS have been characterized. Their pathophysiology is associated with germline pathogenic variants in genes that affect hematopoiesis.

Factors that impact kidney function during open and endovascular reconstruction of aortic aneurysms.

Background: To analyze the factors that influence the deterioration of postoperative renal function in patients undergoing open or endovascular aortic reconstruction, and the impact on survival.

Method: Retrospective review of patients who underwent invasive treatment was conducted. Demographics, laboratory data, clinical, intraoperative and postoperative variables were recorded; renal function was determined, Fisher's exact test was used to find associations and Kaplan Meier analysis to estimate survival.

Successful Embolization of a Ruptured Ovarian Artery Aneurysm in a Postmenopausal Woman: Case Report and Literature Review of Gonadal Artery Aneurysms.

Gonadal artery aneurysms (GADs) are extremely rare; their prevalence and natural history are unknown and their pathogenesis remains poorly understood. Based on the limited literature reports, these might present with rupture (ovarian artery) or pain and acute thrombosis (testicular artery). The present article reports the case of an 80-year-old woman who came to the emergency department (ED) with acute onset of abdominal and left flank pain.

[Predictive value of computed tomographic screening of aortic aneurysms in the Mexican population older than 55 years].

Objective: To determine the prevalence of aortic aneurysm (AA) in tomographic studies in the population at risk.

Methods: An observational, cross-sectional study that consisted in systematically reviewing computed tomographies (CT) of the chest and abdomen was carried out at our institution. These studies were performed for different clinical indications, we selected studies of patients older than 55 years from January 1, 2014 to December 31, 2016.

[Main causes of maternal mortality in Mexicali, Baja California (Mexico)].

Objective: The objective of this study is to determine the main causes of maternal mortality in the period 2009 to 2013 in Mexicali, Baja California, Mexico.

Material And Methods: Epidemiological, observational, descriptive, cross-sectional, and retrospective study was conducted with a universe of 30 cases of maternal death. The information was collected from death certificates and records of cases obtained from the Institute of State Public Service Health of University Xochicalco.