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        Musculoskeletal and neurocognitive clinical significance of adult hypophosphatasia

        김세민,Funda Korkmaz,Steve Sims,Vitaly Ryu,Tony Yuen,Mone Zaidi 대한골다공증학회 2023 Osteoporosis and Sarcopenia Vol.9 No.4

        Hypophosphatasia (HPP), also called Rathbun disease, is a rare genetic disorder that is caused by the loss-of-function mutation in the ALPL gene encoding tissue nonspecific alkaline phosphatase. Doctor Rathbun first described the case of a 3-week-old infant who presented with severe osteopenia, rickets, and multiple radiographic fractures, and died shortly after of epileptic seizure and respiratory distress. The term “hypophosphatasia” was coined as the patients’ alkaline phosphatase levels were significantly low. Since then, our understanding of HPP has evolved, and now we appreciate causative genetic mutation and the broad spectrum of clinical presentation depending on the age of onset, severity, and skeletal involvement: perinatal, infantile, childhood, adult and odontohypophosphatasia. The new development of enzyme replacement with asfostase alfa has saved the lives of severe form of hypophosphatasia. However, it is still unclear and remains challenging how to manage adult HPP that often presents with mild and non-specific symptoms such as muscle pain, joint stiffness, fatigue, anxiety, or low bone mass, which are common in the general population and not necessarily attributed to HPP. In this review, we will present 3 unique cases of adult HPP and discuss the pathophysiology, clinical presentation particularly neuromuscular and neurocognitive symptoms and management of adult HPP.

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        Comparison of 3D accuracy of three different digital intraoral scanners in full-arch implant impressions

        Ozcan Akkal,Ismail Hakki Korkmaz,Funda Bayindir 대한치과보철학회 2023 The Journal of Advanced Prosthodontics Vol.15 No.4

        PURPOSE. This in vitro study aimed to evaluate the performance of digital intraoral scanners in a completely edentulous patient with angled and parallel implants. MATERIALS AND METHODS. A total of 6 implants were placed at angulations of 0°, 5°, 0°, 0°, 15°, and 0° in regions #36, #34, #32, #42, #44, and #46, respectively, in a completely edentulous mandibular polyurethane model. Then, the study model created by connecting a scan body on the implants was scanned using a model scanner, and a 3D reference model was obtained. Three different intraoral scanners were used for digital impressions (PS group, TR group, and CS group, n = 10 in each group). The distances and angles between the scan bodies in these measurement groups were measured. RESULTS. While the Primescan (PS) impression group had the highest accuracy with 38 μm, the values of 104 μm and 171 μm were obtained with Trios 4 IOSs (TR) and Carestream 3600 (CS), respectively (P = .001). The CS scanner constituted the impression group with the highest deviation in terms of accuracy. In terms of dimensional differences in the angle parameter, a statistically significant difference was revealed among the mean deviation angle values according to the scanners (P < .001). While the lowest angular deviation was obtained with the PS impression group with 0.185°, the values of 0.499° and 1.250° were obtained with TR and CS, respectively. No statistically significant difference was detected among the impression groups in terms of precision values (P > .05). CONCLUSION. A statistically significant difference was found among the three digital impression groups upon comparing the impression accuracy. Implant angulation affected the impression accuracy of the digital impression groups. The most accurate impressions in terms of both distance and angle deviation were obtained with the PS impression group.

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        Independent Skeletal Actions of Pituitary Hormones

        김세민,Farhath Sultana,Funda Korkmaz,Daria Lizneva,Tony Yuen,Mone Zaidi 대한내분비학회 2022 Endocrinology and metabolism Vol.37 No.5

        Over the past years, pituitary hormones and their receptors have been shown to have non-traditional actions that allow them to bypass the hypothalamus-pituitary-effector glands axis. Bone cells—osteoblasts and osteoclasts—express receptors for growth hormone, follicle stimulating hormone (FSH), thyroid stimulating hormone (TSH), adrenocorticotrophic hormone (ACTH), prolactin, oxytocin, and vasopressin. Independent skeletal actions of pituitary hormones on bone have been studied using genetically modified mice with haploinsufficiency and by activating or inactivating the receptors pharmacologically, without altering systemic effector hormone levels. On another front, the discovery of a TSH variant (TSH-βv) in immune cells in the bone marrow and skeletal action of FSHβ through tumor necrosis factor α provides new insights underscoring the integrated physiology of bone-immune-endocrine axis. Here we discuss the interaction of each pituitary hormone with bone and the potential it holds in understanding bone physiology and as a therapeutic target

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