RESUMEN
Infective endocarditis (IE) represents a grave infection characterized by endocardial inflammation and valve impairment due to diverse pathogens. Staphylococcus lugdunensis, a coagulase-negative organism, has garnered increasing recognition as a significant etiological agent of IE. This bacterium is renowned for its aggressive tissue infections encompassing bone and joint, bloodstream, and IE sites. Particularly noteworthy is the rapid devastation and abscess formation it induces on heart valves, resulting in elevated mortality rates. The pathogen's affinity for von Willebrand factor facilitates its attachment to cardiac valves and blood vessels, thereby exacerbating its virulence. This abstract provides a comprehensive overview of S. lugdunensis-triggered IE. We present a compelling case involving a 66-year-old female afflicted by IE attributed to this microorganism, illuminating the clinical manifestations and challenges linked to the ailment. Moreover, we scrutinize previously reported instances of S. lugdunensis-related IE spanning from 1993 to 2022, accentuating the escalating importance of this pathogen in disease causality. The deleterious consequences of S. lugdunensis-induced IE emanate from its distinctive clinical attributes, necessitating tailored diagnostic strategies and treatment considerations. Given the gravity and swift progression of the infection, healthcare professionals play a pivotal role in administering timely and efficacious management for afflicted patients. Further research is imperative to enhance diagnostic modalities and explore therapeutic approaches aimed at effectively combating this formidable and life-threatening infection.
RESUMEN
Brugada syndrome is a congenital cardiac channelopathy characterized by ST-segment elevation (≥2 mm) and subsequent inverted T wave in a minimum of two right precordial leads (Brugada type 1 ECG [electrocardiogram] pattern) on ECG. Brugada syndrome is estimated to be responsible for 4%-12% of all sudden cardiac deaths and up to 20% in patients with structurally normal hearts. Development of a temporary Brugada pattern, known as Brugada phenocopy, has been observed in individuals presenting with reversible underlying conditions such as hyperkalemia, hyponatremia, acidosis, ischemia, and pulmonary embolism, among others. Herein we present a case of Brugada phenocopy seen in a patient in diabetic ketoacidosis, which resolved after the electrolyte abnormalities were corrected.
RESUMEN
Monogenic Diabetes of Youth (MODY) is an autosomal dominant form of diabetes. [Fajans SS, et al. NEJM 2001: 345: 971-980.] There are at least six different types of MODY, all of which involve a loss of function gene mutation that results in diminished insulin production. MODY2 results from a mutation in the glucokinase gene (GCK), which decreases enzyme activity. MODY4 results from a mutation in the insulin promoter factor-1 (IPF-1) gene, a transcription factor which regulates the transcription of insulin. [Sperling M, et al. NEJM 2006: 355: 507-510.] TJ presented at 8 months of age with diabetes mellitus requiring insulin (DMRI) with negative islet autoantibodies. She had a prolonged honeymoon period, as evidenced by her insulin requirement of 0.5 units/kg/day at three years of age. Genetic testing showed combination MODY2 (c.1019+18G >A) and MODY4 (c.226G>A) gene mutations. The father was homozygous for MODY2 and the mother was heterozygous for MODY4. [Athena Diagnostics Evaluations "2007 # 839 - Monogenic Diabetes (MODY) Evaluation for the patient, the patient's father, and the patient's mother] Neither parent had diabetes mellitus. The clinical course and negative islet autoantibodies support that the combination of benign MODY2 and MODY4 gene mutations in the parents resulted in DMRI in TJ.