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

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

Enabling Strategic Agility through Dynamic Cloud Capability

Organisations and its leadership team are confronted with the challenge of emerging digital economy, fast-changing innovations, globalisation and pandemics such as Covid-19. Organisations need to alter their business models to counter these effects, hence being strategically agile. Among the most prominent solutions proposed by various authors are a set of capabilities, such as strategic sensitivity, resource fluidity and leadership unity in organisational settings. In this research, we are proposing the Dynamic Cloud Capability (DCC) Framework which aims to help organisations realize an IT/IS strategy enabling them to improve Strategic Agility. DCC builds upon Dynamic IT Capability theory. We will be using a quantitative survey-based approach that involves IT SMEs in Australia, to investigate the effect of DCC on Resource Fluidity and Strategic Agility. This is a research in progress article, which intends to outline the literature review, theoretical underpinning, research methodology and expected results

Risedronate therapy for neurofibromatosis Type 1-related low bone mass: A stitch in time saves nine

PubMedID: 25338093Neurofibromatosis Type 1 (NF1) is a common hereditary disease characterized by disorders regarding the skin, neural, and skeletal systems. Osteoporosis is one of the skeletal manifestations of NF1, which is associated with increased fracture risk. The management of NF1-related low bone mass has been less studied in the literature. We present a 19-year-old patient with severe low bone mass complicating NF1. The patient received 1-year course of 35 mg risedronate sodium once per week along with a daily regimen of 1200 mg calcium and 800 IU vitamin D. Significant improvement with regard to the Z-scores and bone mineral density values was achieved. Besides, rapid favourable biochemical response was obtained. The patient experienced 24.4 and 15.0% improvements in bone mineral density at the lumbar site and hip, respectively, at the first year of therapy. No adverse effect was observed. Since increased bone turnover is the primary contributor of osteoporosis in NF1, antiresorptive agents such as bisphosphonates can be considered for treatment. Despite the lack of consensus on the treatment of osteoporosis in NF1, risedronate may hold a promise as a potential therapy for osteoporosis complicating NF1. This is the first report of risedronate therapy in a case with NF1-associated low bone mass in the literature. © Acta Clinica Belgica 2015

EXPRESSION LEVELS OF JAK/STAT SIGNALING GENES IN NEWLY DIAGNOSED, DRUG SENSITIVE AND RESISTANT CHRONIC MYELOID LEUKEMIA PATIENTS

20th Congress of European-Hematology-AssociationSahin, Fahri/0000-0001-9315-8891; Saydam, Guray/0000-0001-8646-1673;[No abstract available