Bone pain and extremely low bone mineral density due to severe vitamin D deficiency in celiac disease

Case report A 29-year-old wheelchair-bound woman was presented to us by the gastroenterologist with suspected osteomalacia. She had lived in the Netherlands all her life and was born of Moroccan parents. Her medical history revealed iron deficiency, growth retardation, and celiac disease, for which she was put on a gluten-free diet. She had progressive bone pain since 2 years, difficulty with walking, and about 15 kg weight loss. She had a short stature, scoliosis, and pronounced kyphosis of the spine and poor condition of her teeth. Laboratory results showed hypocalcemia, an immeasurable serum25-hydroxyvitamin D level, and elevated parathyroid hormone and alkaline phosphatase levels. Spinal radiographs showed unsharp, low contrast vertebrae. Bone mineral density measurement at the lumbar spine and hip showed a T-score of -6.0 and -6.5, respectively. A bone scintigraphy showed multiple hotspots in ribs, sternum, mandible, and long bones. A duodenal biopsy revealed villous atrophy (Marsh 3C) and positive antibodies against endomysium, transglutaminase, and gliadin, compatible with active celiac disease. A bone biopsy showed severe osteomalacia but normal bone volume. She was treated with calcium intravenously and later orally. Furthermore, she was treated with high oral doses of vitamin D and a gluten-free diet. After a few weeks of treatment, her bone pain decreased, and her muscle strength improved. Discussion In this article, the pathophysiology and occurrence of osteomalacia as a complication of celiac disease are discussed. Low bone mineral density can point to osteomalacia as well as osteoporosis. © International Osteoporosis Foundation and National Osteoporosis Foundation 2011

Systematic review: conservative treatments for secondary lymphedema

<p>Abstract</p> <p>Background</p> <p>Several conservative (i.e., nonpharmacologic, nonsurgical) treatments exist for secondary lymphedema. The optimal treatment is unknown. We examined the effectiveness of conservative treatments for secondary lymphedema, as well as harms related to these treatments.</p> <p>Methods</p> <p>We searched MEDLINE^®, EMBASE^®, Cochrane Central Register of Controlled Trials^®, AMED, and CINAHL from 1990 to January 19, 2010. We obtained English- and non-English-language randomized controlled trials or observational studies (with comparison groups) that reported primary effectiveness data on conservative treatments for secondary lymphedema. For English-language studies, we extracted data in tabular form and summarized the tables descriptively. For non-English-language studies, we summarized the results descriptively and discussed similarities with the English-language studies.</p> <p>Results</p> <p>Thirty-six English-language and eight non-English-language studies were included in the review. Most of these studies involved upper-limb lymphedema secondary to breast cancer. Despite lymphedema's chronicity, lengths of follow-up in most studies were under 6 months. Many trial reports contained inadequate descriptions of randomization, blinding, and methods to assess harms. Most observational studies did not control for confounding. Many studies showed that active treatments reduced the size of lymphatic limbs, although extensive between-study heterogeneity in areas such as treatment comparisons and protocols, and outcome measures, prevented us from assessing whether any one treatment was superior. This heterogeneity also precluded us from statistically pooling results. Harms were rare (< 1% incidence) and mostly minor (e.g., headache, arm pain).</p> <p>Conclusions</p> <p>The literature contains no evidence to suggest the most effective treatment for secondary lymphedema. Harms are few and unlikely to cause major clinical problems.</p

Weaning practices in phenylketonuria vary between health professionals in Europe

Background: In phenylketonuria (PKU), weaning is considered more challenging when compared to feeding healthy infants. The primary aim of weaning is to gradually replace natural protein from breast milk or standard infant formula with solids containing equivalent phenylalanine (Phe). In addition, a Phe-free second stage L-amino acid supplement is usually recommended from around 6 months to replace Phe-free infant formula. Our aim was to assess different weaning approaches used by health professionals across Europe. Methods: A cross sectional questionnaire (survey monkey (R)) composed of 31 multiple and single choice questions was sent to European colleagues caring for inherited metabolic disorders (IMD). Centres were grouped into geographical regions for analysis. Results: Weaning started at 17-26 weeks in 85% (n=81/95) of centres, > 26 weeks in 12% (n=11/95) and 26 weeks. First solids were mainly low Phe vegetables (59%, n=56/95) and fruit (34%, n=32/95). A Phe exchange system to allocate dietary Phe was used by 52% (n=49/95) of centres predominantly from Northern and Southern Europe and 48% (n=46/95) calculated most Phe containing food sources (all centres in Eastern Europe and the majority from Germany and Austria). Some centres used a combination of both methods. A second stage Phe-free L-amino acid supplement containing a higher protein equivalent was introduced by 41% (n=39/95) of centres at infant age 26-36 weeks (mainly from Germany, Austria, Northern and Eastern Europe) and 37% (n=35/95) at infant age > 1y mainly from Southern Europe. 53% (n=50/95) of centres recommended a second stage Phe-free L-amino acid supplement in a spoonable or semi-solid form. Conclusions: Weaning strategies vary throughout European PKU centres. There is evidence to suggest that different infant weaning strategies may influence longer term adherence to the PKU diet or acceptance of Phe-free L-amino acid supplements; rendering prospective long-term studies important. It is essential to identify an effective weaning strategy that reduces caregiver burden but is associated with acceptable dietary adherence and optimal infant feeding development.Peer reviewe

Early feeding practices in infants with phenylketonuria across Europe

Background: In infants with phenylketonuria (PKU), dietary management is based on lowering and titrating phenylalanine (Phe) intake from breast milk or standard infant formula in combination with a Phe-free infant formula in order to maintain blood Phe levels within target range. Professionals use different methods to feed infants with PKU and our survey aimed to document practices across Europe. Methods: We sent a cross sectional, survey monkey (R) questionnaire to European health professionals working in IMD. It contained 31 open and multiple-choice questions. The results were analysed according to different geographical regions. Results: Ninety-five centres from 21 countries responded. Over 60% of centres commenced diet in infants by age 10 days, with 58% of centres implementing newborn screening by day 3 post birth. At diagnosis, infant hospital admission occurred in 61% of metabolic centres, mainly in Eastern, Western and Southern Europe. Breastfeeding fell sharply following diagnosis with only 30% of women still breast feeding at 6 months. 53% of centres gave pre-measured Phe-free infant formula before each breast feed and 23% alternated breast feeds with Phe-free infant formula. With standard infant formula feeds, measured amounts were followed by Phe-free infant formula to satiety in 37% of centres (n = 35/95), whereas 44% (n = 42/95) advised mixing both formulas together. Weaning commenced between 17 and 26 weeks in 85% centres, >= 26 weeks in 12% and <17 weeks in 3%. Discussion: This is the largest European survey completed on PKU infant feeding practices. It is evident that practices varied widely across Europe, and the practicalities of infant feeding in PKU received little focus in the PKU European Guidelines (2017). There are few reports comparing different feeding techniques with blood Phe control, Phe fluctuations and growth. Controlled prospective studies are necessary to assess how different infant feeding practices may influence longer term feeding development.Peer reviewe

Breast cancer related lymphedema and conservative therapies [Meme kanseri ile ilişkili lenfödem ve konservatif tedavisi]

Lymphedema is characterized by generalized or regional accumulation of protein-rich interstitial fluid that occurs as a consequence of congenital or acquired disruption of lymphatic circulation. Cancer-related lymphedema is the most common cause of secondary upper and lower extremity lymphedema. Secondary arm lymphedema is a chronic and disabling condition which affects a significant number of women who undergo breast cancer treatment. The incidence of breast cancer-related lymphedema was reported to be between 2.4 to 56%. Extensive surgical nodal clearing and irradiation are the most important risk factors for the development of lymphedema. Besides preventive approaches of treatment related complications and lymphedema, various therapeutic interventions have been proposed to treat this disabling condition. In the absence of well-designed randomized studies, consensus has not been attained concerning the appropriate treatment of lymphedema. Complex decongestive therapy, manual lymphatic drainage, self-adminitered lymphatic drainage, pneumatic pumps, laser therapy, oral pharmaceuticals, compression bandaging and garments, limb exercises and elevation are among the common conservative therapies used for managing lymphedema. This review overviews the risk factors, assessment methods, preventive approaches and treatment regimens that have been used for the management of lymphedema. © Turkish Journal of Physical Medicine and Rehabilitation, Published by Galenos Publishing. All rights reserved

Breast cancer related lymphedema and conservative therapies [Meme kanseri ile İişkili Lenfödem ve konservatif tedavisi]

Lymphedema is characterized by generalized or regional accumulation of protein-rich interstitial fluid that occurs as a consequence of congenital or acquired disruption of lymphatic circulation. Cancer-related lymphedema is the most common cause of secondary upper and lower extremity lymphedema. Secondary arm lymphedema is a chronic and disabling condition which affects a significant number of women who undergo breast cancer treatment. The incidence of breast cancer-related lymphedema was reported to be between 2.4 to 56%. Extensive surgical nodal clearing and irradiation are the most important risk factors for the development of lymphedema. Besides preventive approaches of treatment related complications and lymphedema, various therapeutic interventions have been proposed to treat this disabling condition. In the absence of well-designed randomized studies, consensus has not been attained concerning the appropriate treatment of lymphedema. Complex decongestive therapy, manual lymphatic drainage, self-adminitered lymphatic drainage, pneumatic pumps, laser therapy, oral pharmaceuticals, compression bandaging and garments, limb exercises and elevation are among the common conservative therapies used for managing lymphedema. This review overviews the risk factors, assessment methods, preventive approaches and treatment regimens that have been used for the management of lymphedema. © Turkish Journal of Physical Medicine and Rehabilitation, Published by Galenos Publishing. All rights reserved

Low-level laser and local corticosteroid injection in the treatment of subacromial impingement syndrome: A controlled clinical trial

Objective: To investigate the effectiveness of low-level laser treatment and local corticosteroid injection in patients with subacromial impingement syndrome. Design: Controlled clinical trial. Setting: Physical Medicine and Rehabilitation outpatient clinic. Subjects: One hundred thirty-five patients with subacromial impingement syndrome. Intervention: The patients were allocated to three groups: local corticosteroid injection (group I); sham laser treatment (group II); and low-level laser treatment (group III). Low-level laser treatment was performed three times per week for a total of nine sessions. Local corticosteroid injections were administered twice, with an interval of 10 days between each. The patients were assessed at pre-treatment, post-treatment and three and six months after the first visit. Main measures: The primary outcome of the study was pain intensity (visual analog scale) during activity and at rest. The secondary outcomes were, shoulder functional status and quality of life measured by the University of California at Los Angeles rating score (UCLA) and Nottingham Health Profile (NHP) scale respectively. Results: Significant differences were observed between groups I and II and between groups II and III regarding pain during activity and at rest scores at all of the visits (p<0.05). Nevertheless, significant improvement was observed between groups I and III regarding pain during activity only at post-treatment (p=0.013). The UCLA scores were significantly changed in all three study groups at all of the visits (p<0.05). Conclusion: The effectiveness of low-level laser treatment was similar to that of local corticosteroid injection in patients with subacromial impingement syndrome. We concluded that both low-level laser treatment and corticosteroid injection were more effective than sham laser treatment. © The Author(s) 2014.Firat University Scientific Research Projects Management Unit: TF2006LTP19Both low-level laser treatment and local steroid injection seem to have similar effect and might be useful therapeutic options in patients with subacromial impingement syndrome. Low-level laser treatment and local steroid injection both seemed to provide an enhanced effect when used in combination with exercise in patients with subacromial impingement syndrome. We appreciate and express our sincere thanks to the anonymous reviewers for their critical comments on earlier drafts of this paper. Conflict of interest The authors declare that there are no conflicts of interest. Funding This work was supported by the Scientific Research Projects Coordination Unit of Cukurova University (grant number TF2006LTP19

Comparison of the early response to two methods of rehabilitation in adhesive capsulitis

PubMedID: 15318285Principle: A randomised, comparative prospective clinical trial was planned to compare the early response to different rehabilitation methods for adhesive capsulitis taking into consideration the clinical efficacy and the cost effectiveness of the methods. Methods: Forty patients with adhesive capsulitis were randomised into two treatment groups. The first group (CYR) received the Cyriax approach of deep friction massage and mobilisation exercises three times weekly. The second group (PT) had daily physical therapy including hot pack and short wave diathermy application. Both groups concluded their treatments with stretching exercises and were also instructed to a daily home exercise program. The primary end point of the study was to reach 80 % of the normal passive range of motion (ROM) of the shoulder in all planes within a period of two weeks. Secondary end points were the overall ROM and pain response (spontaneous pain, night pain and pain with motion) to each treatment. Results: 19 patients in the CYR group (95%) and 13 patients in the PT group (65%) reached sufficient ROM at the end of the second week (p <0.05). The improvement in shoulder flexion, inner and outer rotation values and the decrease in pain with motion were significantly better in the CYR group after the first week of treatment. Conclusion: The Cyriax method of rehabilitation provides a faster and better response than the conventional physical therapy methods in the early phase of treatment in adhesive capsulitis. The method is non-invasive, effective and requires fewer hospital visits for a sufficient early response

Proximal myopathy as an unusual presenting feature of celiac disease

PubMedID: 15349797A 37-year-old woman presented with back pain, diffuse musculoskeletal pain, and muscle weakness without marked gastrointestinal symptoms. She complained of difficulty in walking and bilateral hip pain for the preceding year. Clinical examination revealed proximal muscle weakness especially in the lower extremities and a waddling gait pattern. Laboratory parameters and radiographic findings revealed the diagnosis of osteomalacia. The etiology of osteomalacia was investigated and a diagnosis of celiac disease was established. As osteomalacia symptoms may be the only presenting feature of celiac disease, it should be considered in the differential diagnosis of patients presenting with proximal muscle weakness and diffuse musculoskeletal pain. © Clinical Rheumatology 2005

Macrodystrophia lipomatosa with multiple entrapment neuropathies: A case report

PubMedID: 18322862Macrodystrophia lipomatosa is a rare nonhereditary congenital malformation that mainly affects mesenchymal structures. The pathology is associated with hypertrophic fibro-adipose tissues. One or more of the digits of the extremities are affected. This condition is previously described as macrodactyly, megalodactyly, or localized gigantism. This article describes a 48-year-old male patient who presented with the enlargement of unilateral (right) lower limb, especially of the first toe and tarsal tunnel syndrome. Although there is no clinically significant involvement of the upper extremities, bilateral cubital and unilateral carpal tunnel syndromes were also detected and macrodystrophia lipomatosa with multiple entrapment neuropathies was diagnosed in the patient. Copyright © 2008 Informa Healthcare USA, Inc