A Case of Autosomal Dominant Osteopetrosis Type II with a CLCN7 Gene Mutation

A Case of Autosomal Dominant Osteopetrosis Type II with a CLCN7 Gene Mutation J Clin Res Pediatr Endocrinol. 2019 Feb 14;: Authors: Kang S, Kang YK, Lee JA, Kim DH, Lim JS Abstract Osteopetrosis is a rare genetic disease characterized by increased bone density and bone breakage due to defective osteoclast function. Autosomal dominant osteopetrosis type II, Albers-Schonberg disease, is characterized by the sclerosis of bones, predominantly involving the spine, pelvis, and the base of the skull. Here, we report a typical case of osteopetrosis in a 17.7-year-old male who carries a heterozygous c.746C>T mutation in exon 9 in the chloride voltage-gated channel 7 gene. The patient spine showed multiple sclerotic changes including sandwich vertebra. However, his father with same mutation showed normal skeleton radiographs. PMID: 30759959 [PubMed - as supplied by publisher]
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

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CONCLUSION: The most widely used regression equations for stature estimation in South-East Asian population were from the Thailand population. Further research is recommended to develop regression equations for other South-East Asian countries. PMID: 31427544 [PubMed - in process]
Source: Malaysian Journal of Pathology - Category: Pathology Tags: Malays J Pathol Source Type: research
In this study, we reviewed the recent literature about the use of WBCT in AAFD, starting from a critical analysis about the biases related to conventional radiography and to non-standing CT. Then, we focused on the effects of load on the 3D architecture of the foot and ankle in AAFD. Finally, we discussed the benefits and future perspectives for the use of WBCT in the management of this condition and as a surgical planning tool as well. Level of Evidence: Diagnostic Level V, expert opinion. See Instructions for Authors for a complete description of levels of evidence.
Source: Techniques in Foot and Ankle Surgery - Category: Orthopaedics Tags: Special Focus: Adult Acquired Flatfoot Deformity: The Pandora’s Box of Foot and Ankle Surgery Source Type: research
ConclusionsFractal analysis of alveolar bone obtained from PSP plate–based intraoral radiographic images is influenced by spatial resolution and some digital enhancement filters; therefore, for FD comparison purposes, images should have the same specifications.
Source: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology - Category: ENT & OMF Source Type: research
Conclusions.Migration of the root complex occurs primarily within the first year after coronectomy. Therefore, a routine radiographic follow-up after 1 year only is recommended.
Source: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology - Category: ENT & OMF Source Type: research
A 65-year-old lady presented to our clinic for a rash affecting her neck, arms and legs. It initially started as small skin colored papules affecting the neck and spreading to her arms and legs. Simultaneously she was also being reviewed by the respiratory physicians for worsening dyspnoea and a chest radiograph showing bilateral lymphadenopathy. Her past medical history includes hyperthyroidism for which she was taking propylthiouracil (PTU) and asthma for which she was taking montelukast and inhalers.
Source: Journal of the American Academy of Dermatology - Category: Dermatology Source Type: research
CONCLUSIONS: FA in Dentistry has been widely applied to the study of images. Panoramic and periapical radiographs were those most frequently used. The Image J software and the box-counting method were extensively adopted in the studies reviewed herein. Further studies are encouraged to improve clarification of the parameters that directly influence FA. PMID: 31429597 [PubMed - as supplied by publisher]
Source: Dentomaxillofacial Radiology - Category: Radiology Tags: Dentomaxillofac Radiol Source Type: research
Radiography vendor UMG/Del Medical has released DelWorks LLI, a monolithic...Read more on AuntMinnie.comRelated Reading: Del Medical wins large x-ray order from ND hospital Del Medical releases radiography software Del awarded x-ray purchasing deal with Premier UMG/Del Medical bolsters sales staff UMG/Del inks distribution agreement
Source: AuntMinnie.com Headlines - Category: Radiology Source Type: news
Conclusions: The M6 new-generation cervical disk prosthesis had few complications. No heterotopic ossiication was observed in any patient, and lexion-extension ROM was maintained in all the patients, indicating the M6 prosthesis as a promising alternative. PMID: 31422645 [PubMed - as supplied by publisher]
Source: Asian Spine Journal - Category: Orthopaedics Tags: Asian Spine J Source Type: research
Publication date: Available online 20 August 2019Source: Journal of Bone OncologyAuthor(s): Nicole A. Kohart, Said M. Elshafae, Wachirapan Supsahvad, Aylin Alasonyalilar-Demirer, Amanda R. Panfil, Jingyu Xiang, Wessel P. Dirksen, Deborah J. Veis, Patrick L. Green, Katherine N. Weilbaecher, Thomas J. RosolAbstractAdult T-cell leukemia/lymphoma has a unique relationship to bone including latency in the marrow, and development of bone invasion, osteolytic tumors and humoral hypercalcemia of malignancy. To study these conditions, we established and characterized a novel mouse model of ATL bone metastasis. Patient-derived ATL c...
Source: Journal of Bone Oncology - Category: Cancer & Oncology Source Type: research
ConclusionsReverse Bohlman technique for high grade spondylolisthesis is a viable option when seeking to address adjacent level instability or slip.
Source: Journal of Clinical Neuroscience - Category: Neuroscience Source Type: research
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