RESUMEN
Fecal microbiota transplantation is an evidence-based therapeutic option for recurrent Clostridium difficile infection, involving the transfer of healthy donor fecal material to restore gut microbial balance. Despite meticulous donor screening, Campylobacter jejuni, a prevalent cause of bacterial gastroenteritis, is not routinely tested, potentially impacting fecal microbiota transplant safety. We present a case of a female with recurrent C. difficile infection treated with fecal microbiota transplantation, complicated by a subsequent C. jejuni infection. The emergence of Campylobacter post fecal microbiota transplantation underscores the importance of comprehensive donor screening protocols. Our case prompts a reevaluation of fecal microbiota transplantation safety measures and advocates for inclusive screening to enhance patient outcomes.
RESUMEN
Pituitary apoplexy is a result of rapid enlargement of the pituitary, due to episodes of hyperplasia, which outpaces vascular development resulting in ischemia and potential infarction of pituitary tissue. This can present in several different ways from asymptomatic to hormonal deficiencies. Here we present a case of spontaneous reduction of a non-functioning pituitary mass, likely due to apoplexy, in which the mass went from compromising the optic chiasm to complete reduction and relief of the optic chiasm. The infarction happened spontaneously without treatment and complications. This may encourage future conservative management of pituitary tumors, rather than immediate surgical intervention.
RESUMEN
A 46,XX male represents a variant of Klinefelter syndrome (47,XXY), under the category of a disorder of sex development (DSD). Despite possessing an XX karyotype, these individuals exhibit a male phenotype, which, in this case, results from a translocation of the SRY gene from the Y chromosome onto the X chromosome. This genetic alteration results in the development of male gonadal characteristics. This case report outlines a prenatal diagnosis of a 46,XX female in conflict with a level 2 ultrasound. It details the patient's presentation, diagnosis of an SRY-positive 46,XX male, and medical history. The discussion focuses on the advantages of early identification and intervention in managing symptom progression and addressing fertility challenges through hormone replacement therapy. Further exploration of 46,XX DSD early detection and the underlying mechanisms is essential for refining diagnostic and therapeutic approaches that result in a greater quality of life for these patients.
RESUMEN
As we enter the fourth year of the coronavirus disease 2019 (COVID-19) pandemic, it has become obvious that adult survivors of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection are susceptible to numerous complications in various organ systems. SARS-CoV-2 placental infection is an unanticipated complication of COVID-19 during pregnancy. We hypothesize that fetal survivors of SARS-CoV-2 placentitis are susceptible to long-term cardiovascular complications.
RESUMEN
Uncoordinated 13 (UNC13A) affects movement in Caenorhabditis elegans (C. elegans). It is responsible for docking, priming, and stabilizing synaptic vesicle fusion complexes in the neuronal synapse and neuromuscular junction (NMJ). It also plays an important role in central nervous system development. We report the detailed clinical history and central nervous system neuropathologic findings in an infantile case with homozygous UNC13A loss of function variant, in order to advance the understanding of this critically important synaptic vesicle protein. This is the first detailed central nervous system neuropathologic report of this rare case of homozygous UNC13A loss.