Purpose Clarify the differences between Familial Adenomatous Polyposis (FAP)-associated Congenital Hypertrophy of the Retinal Epithelium (CHRPE) and benign variants with regards to lesion characteristics and associated risk. Observations An eighteen-year-old man with no past medical history was found to have multiple lesions in both eyes that were consistent with FAP-associated CHRPE. Although family history was negative for colon cancer, a colonoscopy was performed, and hundreds of polyps were found extending from the rectum to the distal colon with pathological findings of tubular adenoma. Genetic testing was consistent with a possible de novo Adenomatous Polyposis Coli (APC) mutation. Conclusions FAP is an autosomal dominant syndrome that causes colorectal cancer by age thirty-five in ninety-five percent of cases. There has been no established relationship between the benign variants of CHRPE and FAP, and patients with benign variants have no increased risk of colon cancer. While the lack of distinction in nomenclature and similar lesion appearance often leads to misdiagnosis and overtreatment, there are distinct ocular exam features that can provide the correct diagnosis. The exam findings that distinguish FAP-associated CHRPE lesions are (1) bilateralism, (2) occurrence in multiple quadrants, (3) pisiform shape, and (4) irregular borders. Knowing these features can be of great aid, especially in the setting of suspected de novo Familial Adenomatous Polyposis.
INTRODUCTION: Approximately 7% of pregnancies are complicated by diabetes mellitus. Due to a greater prevalence of obesity and sedentary lifestyle, the prevalence of diabetes is increasing globally. The aim of this study is to evaluate hospital outcomes of patients with diabetes mellitus managed with insulin detemir during pregnancy. METHODS: We retrospectively reviewed all patients managed with insulin detemir at a single maternal fetal medicine clinic. Patients included in the study delivered between January 1, 2007 and August 31, 2016 at a single institution. Patients were excluded if pregnant with a neonate not expected to survive, or if hospital stay was beyond 21 days. IRB committee approval was obtained for this study. RESULTS: Of 161 patients, 154 were included in the final analysis. The majority of patients had gestational diabetes (75.3%, n=116) and were white (73.4%, 113/150). Average maternal age at delivery was 31.0±5.4 years old (range: 19-43). Sixty-six were obese at the initial appointment (42.9%). Average hospital stay was 2.6±1.2 days (range: 1-8). Half of patients delivered via cesarean (51.3%, n=79). Average neonatal weight was 3.3±0.6 kilograms (range: 1.3-5.0). APGAR scores were 8 at 1 minute (54.4%, 74/136), and 9 at 5 minutes (78.5%, 117/136). Average neonatal glucose was 62.3±14.0 mg/dL (range: 37-107). Average maternal glucose during the hospital stay was 109.2±22.6 mg/dL (range: 67.3-184). Six (3.9%) patients received regular insulin treatment during their hospital stay. CONCLUSION: Among patients treated with insulin detemir during pregnancy, few patients required supplemental insulin treatment during the hospital stay for delivery. Neonatal outcomes were satisfactory.
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