Changes in the clinical management of 5α-reductase type 2 and 17ß-hydroxysteroid dehydrogenase type 3 deficiencies in France.

Objectives: To examine the changes in diagnostic practices and clinical management of patients with 5α-reductase type 2 (SRD5A2) or 17ß-hydroxysteroid dehydrogenase type 3 (HSD17B3) deficiency since molecular diagnoses became available. Methods: Clinical, laboratory, and therapeutic data were retrieved from the medical records of 52 patients with a molecular diagnosis of SRD5A2 (n = 31) or HSD17B3 (n = 21) deficiency. Temporal trends regarding age at assessment and initial sex assignment over 1994-2020 were qualitatively analyzed. Age at molecular diagnosis was compared between two subgroups of patients according to their year of birth. Results: Fifty-eight percent (n = 30) patients were diagnosed during the perinatal period, 33% (n = 17) during infancy, and 9% (n = 5) during adolescence or adulthood. Over the studied period, the patients' age at initial assessment and diagnosis frankly decreased. The median (range) age at diagnostic confirmation was 10.5 (0-53.2) years for patients born before 2007 and 0.4 (0-9.3) years for those born in 2007 or later (P = 0.029). Genetic testing identified 27 different variants for the SRD5A2 gene (30% novel, n = 8) and 18 for the HSD17B3 gene (44% novel, n = 8). Before 2002, most patients were initially assigned as females (95%, n = 19), but this proportion dropped for those born later (44%, n = 14; P < 0.001). The influence of initial genital appearance on these decisions seemingly decreased in the most recent years. Therapeutic interventions differed according to the sex of rearing. Ten percent (n = 2) patients requested female-to-male reassignment during adulthood. Conclusion: This study showed, over the past two decades, a clear trend toward earlier diagnosis and assignment of affected newborns as males.

High precision tilt stage as a key element to a universal test mirror for characterization and calibration of slope measuring instruments.

The ultimate performance of surface slope metrology instrumentation, such as long trace profilers and auto-collimator based deflectometers, is limited by systematic errors that are increased when the entire angular range is used for metrology of significantly curved optics. At the ALS X-Ray Optics Laboratory, in collaboration with the HZB/BESSY-II and PTB (Germany) metrology teams, we are working on a calibration method for deflectometers, based on a concept of a universal test mirror (UTM) [V. V. Yashchuk et al., Proc. SPIE 6704, 67040A (2007)]. Potentially, the UTM method provides high performance calibration and accounts for peculiarities of the optics under test (e.g., slope distribution) and the experimental arrangement (e.g., the distance between the sensor and the optic under test). At the same time, the UTM calibration method is inherently universal, applicable to a variety of optics and experimental arrangements. In this work, we present the results of tests with a key component of the UTM system, a custom high precision tilt stage, which has been recently developed in collaboration with Physik Instrumente, GmbH. The tests have demonstrated high performance of the stage and its capability (after additional calibration) to provide angular calibration of surface slope measuring profilers over the entire instrumental dynamic range with absolute accuracy better than 30 nrad. The details of the stage design and tests are presented. We also discuss the foundation of the UTM method and calibration algorithm, as well as the possible design of a full scale UTM system.

Extracorporeal shock wave lithotripsy of submandibular stones: evaluation after 10 years.

The use of extracorporeal shock waves in the treatment of submandibular stones is a minimally invasive approach for the treatment of this disease. Its clinical significance has been determined in a long-term retrospective study, performed as follow-up to the short-term results. From 1989 to 1994, 197 patients (88 female, 109 male; age range, 8 to 83 years) with symptomatic, sonographically detectable concretions of the submandibular gland were treated with extracorporeal shock wave lithotripsy. The review analysis was completed retrospectively in 2002 and included 191 patients with complete data. The period under review ranged from 8 to 13 years, with an average of 10.5 years. Altogether, 67 of the 191 patients (35%) either were free of stones or had no more symptoms from the residual sialoliths. Another 15% had a significant improvement in their symptoms and required no further therapy. The remaining 95 patients (50%) had residual stones; they had no symptoms in the short review period, but have had symptoms since. The therapeutic success was not influenced by the stone size, but rather by the stone location within the gland. After therapy, no severe side effects were identified. Extracorporeal shock wave lithotripsy is a possible treatment for stones in the submandibular gland. In combination with other gland-preserving methods, it now forms part of a multitherapeutic approach that renders submandibulectomy unnecessary in the majority of cases.