ABSTRACT
17α-hydroxylase deficiency is a type of congenital adrenocortical hyperplasia that is typically diagnosed in childhood or adolescence. It manifests as hypertension with gonadal dysfunction as the primary symptom. We herein report 17α-hydroxylase/17,20-lyase deficiency (17OHD) diagnosed at the age of 45 years. The patient presented with hypertension, irregular menstruation, and hyperaldosteronism. The clinical manifestations of 17OHD vary based on the specific variant pattern of CYP17A1. In this case, the variant was c.157_159 TCC del p. Phe53del, which has been frequently reported in Japan. The enzymatic deficiency due to this variant is partial, leading to a delay in making a correct diagnosis.
ABSTRACT
BACKGROUND: Although several COVID-19 outbreaks have occurred in older adult care facilities throughout Japan, no field studies focusing on airborne infections within these settings have been reported. Countermeasures against airborne infection not only consider the air change rate (ACR) in a room but also the airflow in and between rooms. However, a specific method has not yet been established by Japanese public health centers or infectious disease-related organizations. OBJECTIVE: In April 2021, 59 COVID-19 cases were reported in an older adult care facility in Miyagi, Japan, and airborne transmission was suspected. The objective of this study was to simultaneously reproduce the ACR and aerosol advection in this facility using the carbon dioxide (CO2) tracer gas method to elucidate the specific location and cause of the outbreak. These findings will guide our recommendations to the facility to prevent recurrence. METHODS: In August 2021, CO2 sensors were placed in 5 rooms where airborne infection was suspected, and the CO2 concentration was intentionally increased using dry ice, which was subsequently removed. The ACR was then estimated by applying the Seidel equation to the time-series changes in the CO2 concentration due to ventilation. By installing multiple sensors outside the room, advection outside the room was monitored simultaneously. Aerosol advection was verified using computer simulations. Although the windows were closed at the time of the outbreak, we conducted experiments under open-window conditions to quantify the effects of window opening. RESULTS: The ACR values at the time of the outbreak were estimated to be 2.0 to 6.8 h-1 in the rooms of the facility. A low-cost intervention of opening windows improved the ventilation frequency by a factor of 2.2 to 5.7. Ventilation depended significantly on the window-opening conditions (P values ranging from .001 to .03 for all rooms). Aerosol advection was detected from the private room to the day room in agreement with the simulation results. Considering that the individual who initiated the infection was in the private room on the day of infection, and several residents, who later became secondarily infected, were gathered in the day room, it was postulated that the infectious aerosol was transmitted by this air current. CONCLUSIONS: The present results suggest that secondary infections can occur owing to aerosol advection driven by large-scale flow, even when the building design adheres to the ventilation guidelines established in Japan. Moreover, the CO2 tracer gas method facilitates the visualization of areas at a high risk of airborne infection and demonstrates the effectiveness of window opening, which contributes to improved facility operations and recurrence prevention.
ABSTRACT
Paraganglioma (PGL) is a rare tumor originating from extra-adrenal paraganglionic chromaffin tissues, and most sympathetic PGLs have excessive catecholamine secretion. However, nonfunctional PGLs are sometimes found. Although malignant PGL is defined by metastasis to nonchromaffin tissues, it is difficult to predict malignancies due to the lack of reliable markers of potential malignancies. We report the case of a 69-year-old Japanese woman with an incidental retroperitoneal tumor and multiple enlarged mesenteric lymph nodes simultaneously. The patient had no subjective symptoms and there were no laboratory findings suggesting catecholamine hypersecretion. Both the retroperitoneal tumor and the enlarged mesenteric lymph nodes showed high accumulation of fluorodeoxyglucose (FDG), whereas metaiodobenzylguanidine (MIBG) was accumulated only at the retroperitoneal tumor. Although a retroperitoneal tumor was diagnosed as nonfunctional PGL by examination including MIBG scintigraphy, the cause of enlarged mesenteric lymph nodes could not be diagnosed by imaging and biochemical tests. As a result of retroperitoneal tumor resection and mesenteric lymph nodes sampling, histopathological examination revealed that a retroperitoneal tumor was PGL and enlarged mesenteric lymph nodes were follicular lymphoma. To reveal an underlying genetic factor, we performed whole exome sequencing of genomic DNA, and we identified 2 possible candidate variants in SDHD and DLST, but the pathogenicity of these variants remains uncertain in the present case. This rare case reinforces the importance of histopathological diagnosis of nonchromaffin tissue lesions in patients with PGL for the appropriate treatment strategy.
