Routine genetic screening of patients with TAAD provides information that enables genetically personalized care and permits identification of novel mutations responsible for aortic pathology. Analysis of large data sets of variants of unknown significance that include associated clinical features will help define the mutational spectrum of known genes underlying this phenotype and potential identify new candidate loci.

Familial hypocalciuric hypercalcemia (FHH) is considered a relatively benign condition characterized by mild elevations in serum calcium and relatively low urinary calcium excretion. It results from an elevated set point in serum calcium arising from variants in the calcium-sensing receptor (CaSR) gene but also AP2S1 and GNA11 genes, which encode for adaptor-related protein complex 2 and G11 proteins, respectively. The manifestations of FHH can vary and sometimes overlap with primary hyperparathyroidism making the diagnosis challenging. Case Presentations. We report a mother and daughter with a novel heterozygous variant in the CaSR gene resulting in a serine to leucine substitution at position 147 (S147L) of the CaSR. Both patients had mild hypercalcemia, relatively low urinary calcium excretion, elevated calcitriol, and low-to-normal intact PTH. The proband (daughter) presented with symptoms associated with hypercalcemia and was incidentally found to have a bony lesion suspicious for osteitis fibrosa cystica, and she was also diagnosed with sarcoidosis. Subtotal parathyroidectomy revealed normal-weight parathyroid glands comprised of 50–80% parathyroid epithelial cells, which has been documented as within the spectrum of normal. Her mother had no symptoms, and no intervention was pursued. Conclusion. We report a novel variant in the CaSR associated with FHH in two patients with similar biochemical features yet differing clinical manifestations. While the relationship of the bony findings and parathyroid histology with this variant remains unclear, these cases enrich our knowledge of CaSR physiology and provide further examples of how varied the manifestations of FHH can be.

Background: Recent publications indicate that blunt solid organ injuries can be safely managed with reduced length of stay using pathways focused on hemodynamics. We hypothesized that pediatric patients with isolated blunt Grade I or II solid organ injuries may be safely discharged after brief observation with appropriate outpatient follow-up. Objective: The purpose of this study is to evaluate the need for admission of pediatric trauma patients with isolated low-grade solid organ injury resulting from blunt trauma. Methods: We performed a retrospective cohort study of trauma registry data from 2011 to 2018 to identify isolated blunt Grade I or II solid organ injuries among children younger than 19 years. “Complication or intervention” was defined as transfusions, transfer to the intensive care unit, repeat imaging, decrease in Hgb greater than 2 g/dl, fluid bolus after initial resuscitation, operation or interventional radiology procedure, or readmission within 1 week. Results: A total of 51 patients were admitted to the trauma service with isolated Grade I or II blunt solid organ injuries during the 8-year study period. The average age was 11 years. Among isolated Grade I or II injuries, seven (14%) had “complication or intervention” including greater than 2 g/dl drop in Hgb in four patients (8%), follow-up ultrasonography for pain in one patient (2%), readmission for pain in one patient (2%), or a fluid bolus in two patients (4%). None required transfusion or surgery. The most common mechanism of injury was sports related (45%), and the average length of stay was 1 day. Conclusion: Among a cohort of 51 patients with isolated blunt Grade I or II solid organ injuries, none required a significant intervention justifying need for admission. All “complication or intervention” patients observed were of limited clinical significance. We recommend that hemodynamically stable patients with isolated low-grade solid organ injuries may be discharged from the emergency department after a brief observation along with appropriate instructions and pain management.