Mucolipidosis II and III/ (I-cell disease and pseudo-Hurler polydystrophy) N-acetyl-glucosaminyl-l-phosphotransferase deficiency
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop in Atlas of Inherited Metabolic Diseases, 2020
Mucolipidosis II/III shares many of the clinical manifestations of the classic mucopolysaccharidoses. In fact, the roentgenographic characteristics are those of a florid dysostosis multiplex (Figures 83.3–83.8). The films of one of our patients [6] were kept in the teaching file of a medical school department of radiology as exemplifying Hurler disease. The disease was originally described [7] as pseudo-Hurler polydystrophy. There is, however, no mucopolysacchariduria. The long bones are short and thick. The distal radius and ulna tilt toward each other. The proximal phalanges are bullet shaped and the metacarpals are broad distally and pointed proximally. The ribs are broad and spatulate. Vertebral bodies are short and Ll and T12 may be anteriorly beaked (Figures 83.6 and 83.7). There may be early craniosynostosis (Figure 83.8). In other patients, the skull may be normal. There may be hypoplasia of the odontoid. Degenerative changes of the joints, especially the proximal femoral areas, may be characteristic.
Trauma and orthopaedic surgery
Philip Stather, Helen Cheshire in Cases for Surgical Finals, 2012
Fiona has fallen off her horse and is unable to move her right arm. Staff in the emergency department are concerned that she may have dislocated her glenohumeral joint. What nerve is characteristically at risk of damage when a shoulder is dislocated? (2 marks)What area of skin is supplied by this nerve? (1 mark)Describe the two most common types of glenohumeral dislocation, including the mechanisms that classically cause each. (4 marks)Following X-rays, Fiona is diagnosed as having a dislocation of her shoulder. There were no fractures visible. You decide to relocate the shoulder in the emergency department.Give two drugs that could be used to help facilitate the relocation. (2 marks)After the shoulder is relocated Fiona complains of a new pain in her left wrist. Another X-ray is performed, which shows a distal radius fracture, with anterior (palmar) displacement of the distal fragment. What is the name of this fracture? (2 marks)
Rehabilitation of the osteoporotic patient
Peter V. Giannoudis, Thomas A. Einhorn in Surgical and Medical Treatment of Osteoporosis, 2020
Handoll et al. (28) conducted a systematic review of RCTs or quasi-RCTs evaluating rehabilitation as part of the management of fractures of the distal radius sustained by adults and concluded that there is insufficient evidence to evaluate the effectiveness of the various rehabilitation interventions. Nevertheless, it is crucial to realize that the effect of rehabilitation is time dependent. Dewan et al. (11), in a longitudinal cohort study of 94 patients, demonstrated that after a distal radius fracture, most of the improvement related to general health status, fear of falling, and fracture-specific pain/disability takes place within the first 6 months after the injury. In a prospective cohort study, Crockett et al. (31) evaluated the changes in functional status within the first year after a distal radius fracture in women older than 50 years. The authors demonstrated that there was significantly lower functional status (patient-rated wrist evaluation) in the elderly patients across all points in time. Improvement in functional status occurred from 1 week up to 1 year, and the authors underpinned the importance of identification of the recovery pattern in patients with distal radius fractures, which might be helpful for future research and the development of preventive approaches.
Comparison of bone microstructures via high-resolution peripheral quantitative computed tomography in patients with different stages of chronic kidney disease before and after starting hemodialysis
Published in Renal Failure, 2022
Kiyokazu Tsuji, Mineaki Kitamura, Ko Chiba, Kumiko Muta, Kazuaki Yokota, Narihiro Okazaki, Makoto Osaki, Hiroshi Mukae, Tomoya Nishino
Bone microstructures of the distal radius and tibia of the non-dominant arm and leg were evaluated using HR-pQCT (Xtreme CT II, SCANCO Medical, Brüttisellen, Switzerland). If a patient had an arteriovenous fistula on the non-dominant arm, the evaluation was performed on the dominant arm. We used the data within three months after initiation of hemodialysis in the CKD 5 D group. The radial scan site was an area of the distal radius, 10.2 mm in width, 4% of the forearm length proximal from the hand joint. Furthermore, the tibial scan site was an area of the distal tibia, 10.2 mm in width, and 7.3% of the lower leg length proximal from the talocrural joint. The scanning conditions were as follows [29–31]: voltage, 68 kVp; tube current, 1470 μA; integration time, 4.3 ms; projection number, 900; field of view, 140 mm; matrix, 2304 × 2304; voxel size, 60.7 μm; scan length, 10.2 mm; and scanning time, 120 s. The computed tomography dose index, dose length product, and effective dose were 10.8 mGy, 11.0 mGy·cm, and 5 μSv, respectively. All images were evaluated for motion artifacts, and those with artifacts grade 3 or higher were excluded [32]. The semiautomatic algorithm was used for segmentation. For the periosteum, automatic contouring was performed with almost no manual correction. For the endosteum, however, automatic contouring was often followed by manual correction.
Daily life one year after corrective osteotomy for malunion of a distal radius fracture an interview study
Published in Journal of Plastic Surgery and Hand Surgery, 2022
Ingrid Andreasson, Gunnel Carlsson, Gunilla Kjellby-Wendt, Jón Karlsson, Monika Fagevik Olsén
Many different factors influence and contribute to patient satisfaction after surgery on the hand or wrist, such as an improvement in physical symptoms, an improvement in the performance in activities of daily life, improved aesthetics and how well the individual is able to incorporate the injured limb with the self again [34]. All these factors were also found to contribute to satisfaction in this study. An improvement in physical symptoms was mentioned by all the participants. They described a reduction in pain and improved range of motion, ‘relief of symptoms’. Regaining the ability to perform activities was also mentioned and reflected on by all the participants. Some participants clearly expressed satisfaction, as they said that the improved ability to perform certain activities had enhanced their quality of life. The improved aesthetics of the wrist were a source of satisfaction that was also mentioned by the participants in this study. One example of successful ‘incorporation of the injured limb to the self’ is that some participants reflected on not thinking about the wrist anymore but using it unconsciously, like before. This is noteworthy, as malunion of the distal radius potentially interferes to a large extent with everyday life, sometimes making the individual aware of the wrist at all times [10].
“The more I do, the more I can do”: perspectives on how performing daily activities and occupations influences recovery after surgical repair of a distal radius fracture
Published in Disability and Rehabilitation, 2022
Julie M. Collis, Elizabeth C. Mayland, Valerie Wright-St Clair, Nada Signal
A fracture of the distal radius is a common upper extremity injury frequently treated by surgical repair, followed by wrist mobilisation within two weeks of surgery [1]. Wrist stiffness, pain, and functional or sensorimotor impairment can persist after surgery [2–4] and rehabilitative strategies that address impairment and promote early recovery are needed. Wrist and forearm exercises are routinely used during early rehabilitation to promote movement [1,5]. Performance of daily activities can also be used but is poorly defined as a rehabilitative strategy and not as widely promoted as exercise interventions [6]. One of the barriers to occupation-based interventions is a lack of knowledge about how occupation facilitates recovery from injury [7,8]. Without such understandings it is difficult to design interventions that capitalise on the benefits of occupation.