When Blood Is Thicker Than Water: A Case of Acute Pancreatitis Secondary to Familial Hypertriglyceridemia.

Hypertriglyceridemia is one of the major causes of acute pancreatitis in addition to gallstones and alcohol use. These etiologies are often associated with underlying comorbidities. Acute pancreatitis secondary to hypertriglyceridemia is associated with an increase in clinical severity and further complications. We present a case of a 56-year-old man with a past medical history of hypertension, diabetes mellitus, and familial hypertriglyceridemia who was diagnosed with acute pancreatitis secondary to hypertriglyceridemia. The patient presented with 9/10 pressure across the abdomen radiating to the sternum. Labs revealed elevated triglyceride count > 8000 mg/dL and cholesterol > 705 mg/dL. Abdominal CT showed fat stranding along the anterior aspect of the pancreatic head. The patient was managed with IV fluids, nil per os (NPO), and statin management for hypertriglyceridemia. Seven days later, triglycerides decreased to 658 mg/dL, and abdominal pain resolved. This case highlights an unusual presentation of acute pancreatitis and demonstrates the importance of understanding the spectrum of etiologies for this condition.

An Infant With Primrose Syndrome: A Case Report.

Primrose syndrome is a rare autosomal dominant disorder that is characterized by recognizable facial phenotype, sensorineural hearing loss, hypotonia, and developmental delay. All reported probands show de novo ZBTB20 pathogenic variant. Since its discovery in 1982, Primrose syndrome has remained an underdiagnosed condition. Awareness of presentation and prompt diagnostic workup are crucial for early identification and proper management. In this case report, we discuss a case of Primrose syndrome diagnosed in an infant born at Wellspan Hospital in York, PA. The patient exhibited classic phenotypic features, including a high hairline, high-arched palate, and brachycephaly at birth, as well as an absent corpus callosum observed on postnatal MRI and genotypic findings of a pathogenic variant in ZBTB20.

The Impact of Living Situation on Healthcare Encounters for Individuals With Intellectual Disability.

Introduction The living situation of individuals with intellectual disabilities (ID) has evolved throughout the years and ranges from living at home with family caregivers to group homes to independent living arrangements. Living situations can affect access to care and thus healthcare utilization seen by healthcare encounters for individuals with ID. Methods The researchers conducted a chart review of 112 patients to assess demographics, living situations, and healthcare encounters between 2019 and 2021. Living situation categories included independent, biological family, group home, home with other support, and others. Statistical analyses were conducted using R version 4.2.1 (The R Foundation for Statistical Computing, Vienna, Austria). Univariable analyses consisted of the Shapiro-Wilk test of normality, Kruskal-Wallis rank sum test, and pairwise Wilcoxon rank sum test with multiple comparisons correction using the Bonferroni method. Statistical testing for multivariable analysis included the Kruskal-Wallis rank sum test, Spearman's rank correlation, and the negative binomial model. Results Results showed a statistically significant difference in median total encounter value between independently living individuals with ID compared to all other living situations, Χ2 = 4.230, df = 1, p-value = 0.040. Additionally, there is a significant association between medication count and total encounter count, rho = 0.341, S = 154322, p-value < 0.001. Conclusion The study showed that individuals with ID who live independently have fewer healthcare encounters compared to all other living situations. This may be due to various factors such as increased autonomy and free choice, increased barriers to healthcare, or better overall health requiring less medical attention in independently living individuals with ID.