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Mucopolysaccharidosis type 10 is caused by biallelic variants in ARSK, which encodes for a lysosomal sulfatase. To date, seven patients with a mild phenotype resembling spondyloepiphyseal dysplasia or multiple epiphyseal dysplasia have been described. In this report, we present two novel ARSK variants and report clinical and radiological findings of three patients. The patients' initial complaints were hip or knee pain and a waddling gait. All patients showed normal intelligence, normal hearing and eye examinations, and none had organomegaly. While typical dysostosis multiplex findings were not observed, mild platyspondyly with anterior beaking of some vertebral bodies, irregular vertebral endplates, wide ribs, inferior tapering of the ilea with a poorly developed acetabulum, irregularity of the central part of the femoral head, delayed ossification of the carpals were noted. Remarkably, all patients showed metaphyseal striation of the long bones, a crucial diagnostic clue to identify ARSK‐related MPS type 10. Interestingly, vertebral involvement regressed during follow‐up. On the other hand, hip dysplasia progressed in all patients. In conclusion, this study provides valuable long‐term results on a recently discovered form of MPS. [ABSTRACT FROM AUTHOR]

Objective: Dynamic spasticity may develop into static contractures in children with cerebral palsy. The study aimed to evaluate the efficacy of multilevel botulinum toxin type A (BtA) in children with spastic cerebral palsy, when combined with casting, followed by physical therapy and orthotics. Methods: We retrospectively evaluated changes in physical examination and walking in 12 children treated at our institution between January and December 2014 using three-dimensional gait analysis at baseline, and 3 months and 6 months after treatment. We administered BtA 6-8 IU/ kg to four points in gastrocnemius and 4-6 IU/kg BtA to two points in the hamstrings. A long-leg cast was applied for 10 days after the injections, after which an ankle-foot orthosis was supplied to all carers and an intensive physical therapy program was undertaken. Results: Three months after injection, we observed significant improvements in cadence, stride time and velocity, and knee flexion at initial contact and maximum knee extension during the stance phase, but these had returned to baseline by 6 months. However, significant improvements from baseline in ankle plantar flexion at initial contact, maximum ankle dorsiflexion during the stance phase and maximum ankle plantar flexion during the terminal stance phase persisted for 6 months. Conclusion: A single session of multilevel BtA treatment combined with casting, intensive physical therapy and orthosis use appears to be an effective means of preventing static contractures in children with cerebral palsy for up to 6 months. [ABSTRACT FROM AUTHOR]

Copyright of Turkish Journal of Trauma & Emergency Surgery / Ulusal Travma ve Acil Cerrahi Dergisi is the property of KARE Publishing and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Objective: Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous disease characterized by recurrent fractures, blue sclera, and hearing loss. Bisphosphonate treatment has been reported to decrease the annual number of fractures and improve the quality of life in patients with OI. The aim of this study is to evaluate the effect of bisphosphonate treatment in the Turkish OI cohort. Methods: Sixty-five patients with OI, who were treated with pamidronate, were included in this study. The mean treatment duration was 47.1 ± 40 months (range:12-168 months). Bone mineral densitometry (BMD) and the mean number of annual fractures were compared before and after the treatment within groups, and the difference after treatment compared between the OI types. Results: After pamidronate treatment, a significant decrease in the mean annual fracture, along with an increase in BMD Z-score was detected in all patients. Treatment duration did not affect BMD Z-score. However, there was a significant decrease in the mean annual number of fractures after 5 years of treatment (P = .048). After treatment, the decrease in the number of fractures was significant in OI type 3, and the increase in BMD Z-score was significant in OI type 4 when compared with OI type 1. Besides, pamidronate treatment relieved pain, and also corrected the platyspondyly radiologically in all OI groups. Conclusion: We demonstrated that pamidronate treatment improves the quality of life by reducing the number of fractures, relieving pain, and also protecting from deformities in all patients with OI. [ABSTRACT FROM AUTHOR]

Dysosteosclerosis is a group of sclerosing bone dysplasia characterized by short stature, increased bone fragility, osteosclerosis, and platyspondyly. It is a genetically heterogeneous disorder caused by biallelic mutations in the SLC29A3, TNFRSF11A, TCIRG1, and CSF1R genes. To date, four dysosteosclerosis patients with SLC29A3 mutations have been reported. Here, we report biallelic SLC29A3 (c.303_320dupCTACTTTGAGAGCTACCT) variant in a three‐year‐old girl. She had large anterior fontanelle, fracture history, short stature, camptodactyly, elbow contracture, and melanocytic nevus. Initial skeletal radiographs revealed platyspondyly, dense vertebral endplates (sandwich appearance of the vertebral bodies), diffuse sclerosis of the peripheral side of the pelvic bones, sclerosis of metaphysis and diaphysis of the long bones, metaphyseal widening, and diaphyseal cortical thickening. Mild sclerosis was also present in the skull base, maxilla, rib, scapula, and phalanges. Notably, we observed that sandwich vertebrae appearance significantly resolved and sclerosis of ribs, scapula, pelvis, and long bone metaphysis regressed over a 2.5‐year period. However, platyspondyly, metaphyseal widening, and diaphyseal cortical thickening persisted. In conclusion, this study demonstrates spontaneous resolution of osteosclerosis, which was not described previously in patients with dysosteosclerosis. [ABSTRACT FROM AUTHOR]

Copyright of Istanbul Medical Journal is the property of Galenos Yayinevi Tic. LTD. STI and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Istanbul Medical Journal is the property of Galenos Yayinevi Tic. LTD. STI and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Background: Controversies continue about the optimal treatment method for extension Type II supracondylar humerus fractures (SCHFs). Although most patients are successfully treated with closed reduction and plaster casting, in some patients, the reduction initially obtained is lost during the time in the plaster cast. The aim of this study was to determine the risk factors causing reduction loss., Methods: A retrospective examination was made of the data of 103 patients with Type II extension SCHF treated with closed reduction and plaster cast fixation between 2012 and 2018. Reduction loss was evaluated in respect of patient variables, fracture characteristics as obliquity and metaphyseal fragmentation, fixation method, and plaster cast parameters., Results: The 103 patients evaluated comprised 62 males and 41 females with a mean age of 5.4±2.5 years (2-11.6 years). Successful treatment was achieved with closed reduction and plaster cast fixation in 81 (79%) patients and reduction loss was observed in 22 (21%) patients. The reduction loss of fractures showing high oblique in the sagittal plane was 3.17-fold higher than low sagittal oblique fractures (95% CI: 0.99-10.03, p<0.05). The risk of reduction loss in fractures with metaphyseal fragmentation was found to be 6.5-fold higher (95% CI: 1.6-26.5, p<0.01). No statistically significant relationship was determined between reduction loss and Gartland subtype, age, gender, the presence of rotation initially, plaster cast angle, and the soft-tissue/inner cast width ratio., Conclusion: According to our study group, 79% of extension Type II fractures can be successfully treated with closed reduction and plaster casting. Sagittal plane obliquity and metaphyseal fragmentation are risk factors for reduction loss independent of Gartland subtype.

The purpose of this paper is to describe a biologic reconstruction strategy for defects after resection of malignant tibia tumors. Limb-sparing surgery was used for 4 patients with malignant tibia tumors. All patients were male, with an average age of 39.5 years (range: 34-46 years). Mean length of the resected tibia segment was 135 mm (range: 120-150 mm). The defects were primarily reconstructed with bone cement and locked plate until completion of the medical treatment of the tumor. The bone transport was made through locked plate, and the docking site was grafted at the final stage. Mean follow-up period was 49.75 months (range: 71-22 months). Mean distraction index was 1148 mm/days (range: 1130-1175 mm/days), and mean external fixation time was 167 days (range: 152-187 days). According to Paley, functional results were excellent in 2 cases and good in the other 2 cases. Radiological results were excellent in all cases. Two major and 2 minor complications were observed. In this method, stable internal fixation and active usage of extremities are provided until biological reconstruction, and possible wound problems can be completely eliminated during the duration of medical treatment of the tumor.