Assessment of an AI-based tool for population-wide collection of placental morphological data.

OBJECTIVES: Automated placental assessment could allow accurate and timely morphological/pathological measurements at scale. We undertook a pilot study using an artificial intelligence-based assessment system (AI-PLAX) to ascertain the potential of a state-wide rollout as part of Generation Victoria, assessing the impact of time post-delivery, user, and technology used for image capture, on a range of derived placental data. STUDY DESIGN: Ten placentas were imaged by three different users and imaging technologies (iPad, iPhone, Samsung) at (0 h), 24 h, and 48 h post-delivery. Using AI-PLAX, disc size (short and long length, perimeter, area), shape (normal, abnormal), cord insertion type (central, eccentric), cord coiling, abruption (retroplacental hematoma), and meconium staining were determined. RESULTS: When analysing the maternal surface of the placenta, time in cold storage post-delivery had modest effects on placental dimensions, with decreases in the short length (24-48 h: -3.7 %), disc area (0-24 h: 4.7 % and 0-48 h: -7.4 %), and perimeter (0-48 h: -3.8 %) observed. There was marginal impact on placental dimensions when the placenta was imaged by different users, including long length (+1.9 %), disc area (+2.9 %), and perimeter (+2.0 %). Measures of placental size were not impacted by the type of technology used to capture the images. When analysing the fetal surface of the placenta, more variance in placental size measures were observed between users. Abruption detection was not affected by any parameter. Time between delivery and imaging impacted apparent meconium staining - likely reflecting changes in fetal surface colour over time. Meconium staining was not affected by technology or user. CONCLUSIONS: This study supports the feasibility of the collection of placenta images for later morphological analysis by AI-PLAX, with measures obtained minimally influenced by time in cold storage, user imaging the placenta, or technology to capture the images.

Sestamibi scanning and outcomes in minimally invasive parathyroidectomy.

OBJECTIVE: To determine whether preoperative sestamibi scanning facilitates the desired outcome of successful completion of minimally invasive parathyroidectomy (MIP) and also to analyze the results in patients with underlying concurrent thyroid disease. METHODS: We undertook a retrospective analysis by review of medical records of 133 parathyroidectomies for sporadic primary hyperparathyroidism with preoperative sestamibi scanning during a 26-month period at our medical center. RESULTS: Of the 133 patients with preoperative sestamibi scanning, 106 were candidates for MIP, and 86 had positive scans showing a localized focus of uptake. MIP, with use of intraoperative parathyroid hormone level monitoring, was successfully completed in 70 patients; the other 16 patients required conversion to bilateral neck exploration. Another 20 patients with negative sestamibi scans (no localized focus of uptake) also underwent MIP. The surgeon used ultrasonography or subtle, nondiscrete sestamibi scan findings to decide on this approach. In this group, 65% of patients had successful completion of MIP, in comparison with 81% (95% confidence interval, 72% to 89%) in the group with positive scans (P = 0.13). Subgroup analysis of patients with underlying concomitant thyroid abnormalities showed successful completion of MIP in 39 of 51 (76%), in comparison with 31 of 35 patients (89%) without thyroid abnormalities (P = 0.16). CONCLUSION: In patients with sporadic primary hyperparathyroidism, finding a localized focus of uptake on a preoperative sestamibi scan facilitates successful completion of MIP. In patients with underlying thyroid disease, positive sestamibi scans are still useful in completing MIP, but more patients in this group require conversion to bilateral neck dissection.

Roof of the parapharyngeal space: defining its boundaries and clinical implications.

The roof of the parapharyngeal space (PPS) is poorly defined. Although it is generally described as having prestyloid and poststyloid compartments, we believe that these terms are imprecise. Therefore, we define its boundaries, partition, and compartments. We completed macroanatomical and microanatomical dissections in 10 specimens from 5 human cadaver heads; bone measurements in 50 dry skulls; and axial and coronal cross-sectional studies in 2 cadaveric specimens. The PPS roof is bordered laterally by the medial pterygoid fascia and medially by the pharyngobasilar fascia. The tensor veli palatini fascia (TVPF) partitions this roof into an anterolateral compartment containing fat and part of the deep lobe of the parotid gland, and a posteromedial compartment containing the cartilaginous part of the eustachian tube, internal carotid artery, internal jugular vein, and cranial nerves IX through XII. The anteroposterior length measures 32 mm (range, 26.1 to 36.9 mm), and the mediolateral width measures 16.3 mm (range, 12.1 to 21.3 mm). The PPS roof has 3 important bony landmarks (ie, scaphoid fossa, styloid process, sphenoid spine); 3 important fasciae (ie, medial pterygoid fascia, TVPF, pharyngobasilar fascia); and 2 compartments, which are anterolateral and posteromedial to the TVPF. We believe that this is the first report to specifically focus on the roof of the PPS.

Cushing's syndrome from ectopic production of corticotropin by a metastatic gastrinoma.

OBJECTIVE: To present a case of a young woman with new-onset diabetes mellitus resistant to insulin attributable to Cushing's syndrome caused by ectopic production of corticotropin by a metastatic gastrinoma. METHODS: We summarize the clinical presentation and the pertinent laboratory values in a patient with Cushing's syndrome. A review of the literature regarding ectopic production of corticotropin by gastrinomas is also presented. RESULTS: A 26-year-old woman with dehydration, severe hyperglycemia, and hypokalemia was seen in consultation. The patient required large doses of insulin to control plasma glucose, and further work-up confirmed the presence of Cushing's syndrome caused by ectopic production of corticotropin from a metastatic gastrinoma. CONCLUSION: This case is unusual in that the patient was relatively young and the clinical presentation of Cushing's syndrome was dominated by uncontrolled diabetes, insulin resistance, and hypokalemia. At the time of this diagnosis, the patient already had evidence of multiple liver metastatic lesions from a pancreatic gastrinoma. The rapid occurrence of difficult-to-treat diabetes and hypokalemia should raise the suspicion of Cushing's syndrome from ectopic production of corticotropin. In fact, patients with metastatic pancreatic tumors and poorly controlled diabetes with hypokalemia should undergo evaluation for Cushing's syndrome, even in the absence of the typical stigmas, because of rapid development of the disease and high levels of corticotropin.

Prevalence of the factor VLeiden mutation among autopsy patients with pulmonary thromboembolic disease using an improved method for factor VLeiden detection.

Activated protein C resistance caused by factor VLeiden mutation is the most common inherited predisposing cause of venous thromboembolism, including pulmonary embolism (PE). We studied whether the incidence of factor VLeiden is higher among patients with PE evident at autopsy than in the general population. Paraffin-embedded fixed tissue blocks from all autopsy patients with diagnosed pulmonary thromboembolic disease during a 4-year period were collected for DNA extraction. Extraction and molecular analysis of the DNA was performed with an improved technique with an internal control to determine the presence of factor VLeiden mutation. Analysis of 82 autopsy cases with PE yielded 5 patients who were heterozygotes. Seventy-seven of the 82 patients analyzed were normal, and no homozygotes for factor VLeiden mutation were identified. This yielded a positive rate of 6% overall and 7% among white patients, which is similar to the incidence of heterozygotes in the white population. This study indicates that routine determination of factor VLeiden mutation is not warranted for patients with PE diagnosed at autopsy.

The I1307K polymorphism of the APC gene in colorectal cancer.

BACKGROUND & AIMS: Colorectal cancer is one of the most frequent cancers in humans. Recently, a germline missense mutation, I1307K, was identified in the adenomatous polyposis coli (APC) gene that was suggested to increase cancer predisposition in Ashkenazi Jews. However, a second study indicated that the I1307K mutation did not contribute greatly to the risk of colon cancer in Ashkenazi breast-ovarian cancer families, and a role of mismatch repair deficiency was suggested. This study investigated the frequency of the I1307K mutation in several non-Ashkenazi Jewish populations. We also compared the distribution and frequency of APC mutations from colon tumors that were positive and negative for the I1307K mutation. Finally, the association between the presence of mutations in the I1307K region and mismatch repair deficiency was studied. METHODS: We tested for I1307K in 345 patients who were not Ashkenazi Jews using a heteroduplex screen. We also performed an extensive mutational analysis in this region of the APC gene on DNA extracted from 240 Italian, Finnish, and Hawaiian-Japanese colon tumors and determined replication error status. RESULTS: The I1307K mutation was not found among 345 non-Ashkenazis. Somatic mutations occurred at a lower frequency and were more randomly distributed when the I1307K allele was not present. The most common characteristic somatic mutation occurring around codon 1307 in I1307K-positive patients did not occur in tumors negative for the I1307K mutation. An association between mutations in the region around APC codon 1307 and mismatch repair deficiency was not found. CONCLUSIONS: Our findings support the hypothesis that the I1307K mutation is unique to the Ashkenazi Jews, contributes to tumor predisposition in colorectal cancer, and is unrelated to mismatch repair deficiency.