Screening for Metabolic Bone Disease of prematurity

Metabolic bone disease (MBD) of prematurity remains a significant comorbid condition in preterm, low birth weight infants. As the majority of in utero calcium (Ca) and phosphorus (Phos) accretion occurs during the third trimester, many of these children have inadequate mineral stores and are at risk for deficiencies of Ca and Phos. While fortification of formula has allowed for increased mineral delivery to premature infants, intestinal immaturity prevents optimal absorption. This is compounded by immobilization, delayed establishment of enteral feeds, long term parenteral nutrition and medications that may alter mineral levels. Over time, biochemical changes occur and accompany MBD, with poor bone mineralization during this period increasing the risk for complications such as osteopenia, rickets and fractures. Screening is largely based on risk factors, but despite the 2013 AAP Consensus Statement, there remains significant variation in screening practices across institutions. A combination of laboratory and radiologic testing is often used to diagnose and manage MBD of prematurity, but there exists a lack of consensus on which screening tests and thresholds to use. This is in part related to a lack of normative data and clinical trials for preterm infants, and a result, a lack of evidence-based guidelines on the diagnosis and timing of potential treatment. Biochemical markers, such as serum Phos, alkaline phosphatase (ALP) and parathyroid hormone (PTH), have shown some benefit in the diagnosis of MBD in some studies, but have not always been reproducible. Radiographs may identify different degrees of skeletal changes, but these changes may not be detected until later in MBD development. Other modalities, such as DXA and ultrasound, have also been used, but these may be limited by lack of standards in preterm infants or lack of availability in some centers. Further research, more specifically clinical trials, are needed to determine which combination of tests can detect MBD at its earliest, in order to promote early treatment and prevent short- and long-term complications of MBD.     

Is deoxypyridinoline a good resorption marker to detect osteopenia in phenylketonuria?

OBJECTIVES: To evaluate deoxypyridinoline as a resorption marker in phenylketonuria (PKU) and to search for a relationship between deoxypyridinoline, calcium/creatinine index (Ca/Cr I), osteocalcin and bone alkaline phosphatase (BAP). METHODS: This was a transversal analytical study of 46 PKU patients [17.5 (4-38) years]. Deoxypyridinoline and osteocalcin were measured with a chemiluminescent assay and BAP was measured with an immunoradiometric assay. RESULTS: Deoxypyridinoline was significantly increased in patients aged 7-14 and >18 years old, being associated with age (r=-0.724, P<0.001). Adult patients showed significantly higher Ca/Cr I, which correlates with Phe values for the year prior to the study (P=0.014). Serum BAP was significantly increased in pediatric patients (9-13 years), while it was decreased in adult patients (P=0.003). Decreased osteocalcin levels were found in patients>15 years (P=0.028). Altered deoxypyridinoline and BAP values were related (P=0.042). CONCLUSION: PKU patients excreted increased D-Pyr, suggesting high bone resorption. Bone formation seems active in childhood but deteriorates in adult PKU patients. Periodic measurement of D-Pyr and BAP may be useful in the prevention of osteopenia in PKU patients.     

Fecal incontinence,anal skin irritation,and metabolic concerns associated with pelvic pouches

Mechanical and inflammatory complications of pelvic pouch surgery have been well described but there has been limited recognition of problems such as fecal incontinence, anal skin irritation and metabolic changes that may develop after surgery. Reported rates of daytime and nighttime fecal incontinence rates are 29% and 47% respectively. We discuss strategies for managing fecal incontinence and associated anal skin irritation that can develop. Metabolic consequences of pelvic pouch surgery are also increasingly being recognized. Patients with IPAA who are doing well with no evidence of pouch inflammation have low rates of nutrient deficiencies but should be monitored for vitamin B12, vitamin D and zinc deficiencies. In contrast, patients with IPAA who develop pouchitis, diarrhea, and/or rectal bleeding are more susceptible to nutrient deficiencies and should have a broader assessment of nutrient status. In additions, there appears to be an increased risk of bone loss among patients with IPAA and thus these patients should undergo appropriate risk screening and testing. Finally, patients with IPAA have physiologic changes that predispose to formation of calcium oxalate and uric acid renal stones.     

Bone Mineral Density in Hemophilia Patients

Patients with hemophilia suffer from low bone mineral density (BMD) due to several risk factors including arthropathy and resulting immobility. Recent studies have shown variable frequency of low BMD in this group of patients. This study attempts to assess the prevalence of low BMD (osteoporosis and osteopenia) and the associated risk factors in a group of Iranian hemophilia patients. Patients with moderate or severe hemophilia underwent BMD measurement by dual energy X-ray absorptiometry. The results were correlated with other variables including physical activity, calcium intake and demographic data. Forty two patients with the mean age of 31 years (range 18–72) completed the study. The prevalence of osteoporosis in the spine and the left femoral neck was 23.8 and 14.6 %, respectively, and osteopenia in the spine and femoral neck was seen in 45.2 and 31.7 % of the patients, respectively based on the WHO T-score criteria. We found only cigarette smoking to be significantly related to low BMD (P < 0.001). There were two cases of pathologic fracture at femoral neck and forearm (4.8 %). Low BMD is very common in patients with hemophilia. Appropriate assessment of BMD and control of predisposing factors such as prophylactic factor replacement (to prevent hemarthrosis) and cessation of cigarette smoking are warranted.     

Estimating lumbar bone mineral density from routine radiographs of the lumbar spine

Summary To evaluate the information content of lateral lumbar films with respect to bone mineral content, we compared reading criteria with values obtained by quantitative computed tomography (CT) of L1 at baseline and after 5 years. The highest correlations with mineral content were found for the criteria overall assessment of the vertebra, vertebral body density versus soft tissue, and amount of trabeculations. These three reading criteria yielded higher correlations with CT scores in subjects with lower body mass index. Changes in mineral content over the 5-year period could not be read adequately, the average difference representing only a loss of about 10% in the study subjects. We conclude that a rough estimate of bone density can be obtained from lateral radiographs which, in the presence of eventual risk factors for osteoporosis, may serve as an additional indication to timely bone densitometry with methods which allow precise short-term follow-up measurements.     

Osteoporosis among patients with type 1 and type 2 diabetes

Both diabetes and fractures are prevalent in adults. The relationship between diabetes and osteoporosis is complex and, although it has been investigated extensively, the subject remains controversial. While low bone mineral density (BMD) is consistently observed in type 1 diabetes, the relationship is less clear in type 2 diabetes, with some studies reporting modestly increased or unchanged BMD. Both type 1 and type 2 diabetes have been associated with a higher risk of fractures. Despite discrepancies between BMD and fracture rates, clinical trials uniformly support the fact that new bone formation and bone microarchitecture and, thus, bone quality, are altered in both types of diabetes. Although a causal association between diabetes and osteoporosis cannot be established on the basis of existing data, it is possible to conclude from many studies and from a better understanding of the physiopathology of diabetes that it can increase the risk of fractures through skeletal (decreased BMD and bone quality) and extraskeletal (increased risk of falls) factors. Even though osteoporosis screening or prophylactic treatment in all patients with type 1 and type 2 diabetes is not being recommended at present, such patient populations should be given general guidelines regarding calcium and vitamin D intakes, exercise and the avoidance of potential risk factors for osteoporosis. The extent of diagnostic and therapeutic interventions should be based on the individual's risk profile for fractures.     

Increased Levels of Circulating Advanced Glycation End-Products in Menopausal Women with Osteoporosis

Background: Advanced glycation end-products (AGEs) can accumulate in organs and tissues during ageing and diabetes. Increased levels of AGEs are found in the bone tissue of patients with osteoporosis. The purpose of this study was to evaluate circulating AGEs in patients with osteoporosis.Methods: We evaluated plasma AGEs, osteoporosis-related biomarkers, and bone mass in 82 menopausal women with osteoporosis or osteopenia, 16 young women with osteopenia, and 43 healthy women without osteoporosis or osteopenia.Results: Higher levels of serum AGEs were found in the osteoporosis or osteopenia group compared to healthy women (P < 0.0001). A negative correlation was observed between serum AGEs and lumbar spine bone density (BMD of lumbar spine, r = -0.249, P = 0.028; T-score of lumbar spine, r = -0.261, P = 0.021). Women with a increased level of serum AGEs (> 8.12 U/mL) had a 5.34-fold risk of osteopenia regarding lumbar spine T-score and a 3.31-fold risk of osteopenia regarding the hip T-score.Conclusion: Serum AGEs could be used to monitor the severity and progression of osteoporosis. An increased serum level of AGEs was associated with impaired bone formation and was a risk factor for the development of osteoporosis. Targeting AGEs may represent a novel therapeutic approach for primary or secondary osteoporosis.     

Burden of celiac disease in the Mediterranean area

AIM: To estimate the burden of undiagnosed celiac disease (CD) in the Mediterranean area in terms of morbidity, mortality and health cost. METHODS: For statistics regarding the population of each country in the Mediterranean area, we accessed authoritative international sources (World Bank, World Health Organization and United Nations). The prevalence of CD was obtained for most countries from published reports. An overall prevalence rate of 1% cases/total population was finally estimated to represent the f...