Myrick C. Shinall

Differentiating familial hypocalciuric hypercalcemia from primary hyperparathyroidism.

OBJECTIVE Because the clinical features of familial hypocalciuric hypercalcemia (FHH) overlap significantly with those of primary hyperparathyroidism (PHPT), various means of differentiating between the two diseases have been suggested. Here we present a review of the clinical delineation of these two diseases. METHODS Review of the English language literature on FHH and PHPT. RESULTS FHH is a rare genetic disorder generally resulting in asymptomatic hypercalcemia of minimal clinical consequence. It is easily misdiagnosed as PHPT because both entities can manifest as hypercalcemia with an inappropriately normal or elevated level of parathyroid hormone. The 2 disorders differ in renal processing of calcium, and a number of indices of renal calcium excretion have been proposed to differentiate the 2 entities. However, the two disorders have considerable overlaps in their ranges on these indices making differentiation a challenge. There are many mutations in the calcium-sensing receptor (CaSR) gene associated with FHH and it is becoming increasingly recognized that the CaSR has broad functional variability. CONCLUSION The calcium:creatinine clearance ratio (CCCR) is the consensus biochemical test to differentiate between PHPT and FHH. However, this test is still limited by a considerable indeterminate range, and definitive diagnosis of FHH requires genetic testing. A combination of clinical suspicion, biochemical testing, and genetic analysis is required to differentiate PHPT from FHH and thus spare patients with FHH from nontherapeutic operative treatment.

Defining hepatoblastoma responsiveness to induction therapy as measured by tumor volume and serum α-fetoprotein kinetics

PURPOSE Hepatoblastoma is commonly unresectable at presentation, necessitating induction chemotherapy before definitive resection. To refine the paradigm for timing of resection, we questioned whether a plateau in hepatoblastoma responsiveness to neoadjuvant therapy could be detected by calculating tumor volume (TV) and serum alpha-fetoprotein (sAFP) kinetics. METHODS To calculate TV and sAFP as measures of treatment responsiveness over time, infants having initially unresectable epithelial-type hepatoblastomas were identified at a single institution (1996-2008). Effects of therapy type, therapy duration, and lobe of liver involvement on TV, sAFP, margin status, and toxicity were analyzed. RESULTS Of 24 infants treated for epithelial-type hepatoblastoma during this interval, 5 were resected primarily, and 15 had complete digital films for kinetics analysis. Both TV and sAFP decreased dramatically over time (P < .0001). No statistically significant difference in mean TV or sAFP was detected after chemotherapy cycle 2. Left lobe tumors had greater presenting levels of and significantly slower decay in sAFP compared with right lobe tumors (P = .005), although no statistically significant differences in TV existed between liver lobes. Resection margins did not change with therapy duration. CONCLUSIONS Measuring TV and sAFP kinetics accurately reflects hepatoblastoma responsiveness to induction therapy. Treatment toxicities may be reduced by earlier resection and tailoring of chemotherapeutic regimens.

Comparing cost and complications of primary and staged surgical repair of neonatally diagnosed Hirschsprung's disease

BACKGROUND/PURPOSE We questioned whether primary surgical correction of neonatally diagnosed Hirschsprungs Disease (HD) incurs higher costs or increased incidence of adverse events (AE) when compared with staged repair. METHODS We reviewed the medical records of all neonates diagnosed with HD at our institution between 1997 and 2007. Sixty subjects fulfilled criteria for inclusion. Twenty-seven neonates had primary repair, and 33 had staged repair. We measured inflation-adjusted total costs, direct costs, and total charges and 6 AE between the 2 groups. A generalized linear model was used to examine differences between group variables. RESULTS We found no statistically significant difference in costs or AE between primary and staged repair. Inflation-adjusted median financial data for primary or staged repair were, respectively, as follows: total costs,

Pheochromocytoma in Neurofibromatosis Type 1: When Should it Be Suspected?

35,670 vs

Influence of adrenal pathology on perioperative outcomes: a multi-institutional analysis

38,538 (P = .617); direct costs,

Imaging analysis of hepatoblastoma resectability across neoadjuvant chemotherapy.

18,453 vs

Five-Year Experience of an Inpatient Palliative Care Unit at an Academic Referral Center

23,937 (P = .128); total charges,

Facility Placement as a Barrier to Hospice for Older Adult Patients Discharged From a Palliative Care Unit

107,315 vs

Psychometric Properties of the FACIT-Pal 14 Administered in an Outpatient Palliative Care Clinic:

102,492 (P = .690). Adverse events occurred in 48% of primary repair subjects and 36% of staged repair subjects (P = .434); no single AE differed significantly between the two groups. CONCLUSIONS We found no statistical evidence that primary neonatal correction of HD adds cost or risk of AE when compared with a traditional staged approach in neonates who met inclusion criteria.

Dismemberment, Dualism, and Theology of the Body in the Gospel of Matthew

OBJECTIVE Neurofibromatosis type 1 (NF1) carries an increased risk of pheochromocytoma. Most experts recommend that NF1 patients be screened for pheochromocytoma if hypertension develops. We sought to compare NF1 and non-NF1 patients with pheochromocytoma. METHODS Retrospective analysis of a prospectively collected database of all patients undergoing pheochromocytoma resection by a single surgeon from 2003-2012. Statistical significance was evaluated using Fishers exact test for categorical variables and the Wilcoxon rank sum test for continuous variables. RESULTS Of 56 patients undergoing pheochromocytoma resection, 6 (11%) had NF1. All 6 (100%) NF1 patients had pheochromocytoma diagnosed incidentally during work-up for another condition, whereas 28 of 50 (56%) non-NF1-associated pheochromocytomas were diagnosed incidentally (P = .071). Hypertension was present in 1 (17%) NF1 patient and in 37 (74%) of the non-NF1 patients (P = .011). Tumors were significantly smaller in NF1 patients compared with non-NF1 patients (median tumor dimension, 2.75 cm vs. 5.9 cm, respectively; P = .014). CONCLUSION Although NF1 patients have a well-known increased risk of developing pheochromocytoma, in the current series, all NF1 patients referred to the surgeon for adrenalectomy had pheochromocytoma diagnosed incidentally. Nevertheless, NF1 patients had significantly smaller tumors and less hypertension than other patients treated for pheochromocytoma, perhaps due to a higher frequency of imaging occasioned by their other neoplasms. The common recommendation to screen for pheochromocytoma when hypertension develops would have failed to spur screening in 83% of these NF1 patients. Routine screening for pheochromocytoma in all NF1 patients may be warranted after evaluating whether this is cost-effective in reducing morbidity and mortality.