Assessment of biochemical bone markers of osteoporosis in children with thalassemia major.

BACKGROUND: Beta thalassemia major (ß-TM) is a common cause of skeletal morbidity and is associated with increased bone fracture risk, particularly in inadequately transfused children. The aim of this study was to investigate some potential biochemical markers as possible early predictors of BMD variations in children with ß-TM. METHODS: The study included 38 children with ß-TM and 40 sex-age matched controls. All patients were subjected to BMD assessment by dual-energy X-ray absorptiometry (DEXA). Serum beta-crosslaps (beta-CTx), osteoprotegerin (OPG), receptor activator of nuclear factor-kappa B ligand (RANKL), urinary deoxypyridinoline (DPD) and ferritin levels were compared between the groups. RESULTS: Serum OPG levels were significantly lower in thalassemic children than in controls. The mean ratio of RANKL/OPG was significantly higher in the thalassemic patients than in the control group. Osteoporosis was detected in 10 (3 female and 7 male) of 38 patients (26.3%) according to the femur Z score and in 6 of them (4 male and 2 female) (15.8%) according to the spine Z score. CONCLUSIONS: Serum OPG concentrations can be used as a biochemical marker in screening patients with beta-thalassemia major for the development of osteoporosis.

Refugee children with beta-thalassemia in Turkey: Overview of demographic, socioeconomic, and medical characteristics.

AIM: Since the beginning of the Syrian civil war, more than 3.5 million Syrians have been under temporary protection status in Turkey. Because beta-thalassemia (BT) is a prevalent disorder in the Mediterranean countries, we decided to estimate the prevalence of and make an overview of the demographic, socioeconomic, medical characteristics, and healthcare problems of refugee children with BT. PATIENTS: Eighteen Turkish Pediatric Hematology Oncology Centers (PHOC) with 318 refugee children from 235 families participated in the study. The mean age of the patients was 8.1 ± 4.8 years (0.5-21 years). The mean time after immigration to Turkey was 2.5 ± 1.5 years (range, 0.1-7 years). Seventy-two (22.6%) of them were born and diagnosed with BT in Turkey. On physical examination, 82 patients (26%) were underweight and 121 patients (38%) were stunted. The appearance of a thalassemic face was reported for 207 patients (65.1%). Hepatomegaly and splenomegaly were reported in 217 (68.2%) and 168 (52.8%) patients, respectively. The median ferritin level was 2508 ng/mL (range, 17-21 000 ng/mL) at the first admission, and 2841 ng/mL (range, 26-12 981 ng/mL) at the last visit after two years of follow-up in a PHOC (P > 0.05). The most frequently encountered mutation was IVSI-110 (G>A) (31%). Before immigration, only 177 patients (55.6%) reported the use of chelators; after immigration it increased to 268 (84.3%). CONCLUSION: Difficulties in communication, finding a competent translator capable in medical terminology, nonregular use of medications, and insensitivity to prenatal diagnosis were preliminary problems. The current extent of migration poses emerging socioeconomic and humanitarian challenges for refugee patients with BT.

Assessment of Peripheral Neuropathy in Patients with ß-Thalassemia via Electrophysiological Study: Reevaluation in the Era of Iron Chelators.

Peripheral neuropathy is one of the complications of ß-thalassemia (ß-thal) that has been investigated in limited reports. We aimed to detect the rate of peripheral neuropathy and risk factors for neuropathy development in patients with ß-thal. The study was performed in patients with ß-thal intermedia (ß-TI) or ß-thal major (ß-TM). Prospective electrophysiological studies were achieved via standard procedures. A total of 27 patients were enrolled in the study. Electrophysiological studies for both motor and sensory nerves were within normal range. In motor nerve studies, delayed peroneal nerve latency was found in patients with high ferritin levels, increased ulnar nerve amplitude was detected in patients ≥20 years old, and increased tibial nerve amplitude was seen in patients with low copper levels. We could not show peripheral neuropathy in our patients. Increased ferritin level, older age, and copper deficiency may cause mild changes in electrophysiological studies of motor nerves.

THE GLYCOCALYX AND TRAUMA: A REVIEW.

In the United States trauma is the leading cause of mortality among those under the age of 45, claiming approximately 192,000 lives each year. Significant personal disability, lost productivity, and long-term healthcare needs are common and contribute 580 billion dollars in economic impact each year. Improving resuscitation strategies and the early acute care of trauma patients has the potential to reduce the pathological sequelae of combined exuberant inflammation and immune suppression that can co-exist, or occur temporally, and adversely affect outcomes. The endothelial and epithelial glycocalyx has emerged as an important participant in both inflammation and immunomodulation. Constituents of the glycocalyx have been used as biomarkers of injury severity and have the potential to be target(s) for therapeutic interventions aimed at immune modulation. In this review, we provide a contemporary understanding of the physiologic structure and function of the glycocalyx and its role in traumatic injury with a particular emphasis on lung injury.

Assessment of clinical and laboratory presentations of familial hemophagocytic lymphohistiocytosis patients with homozygous W374X mutation.

Homozygous W374X mutation was identified in unrelated 13 patients (6M/7F) from consanguineous families, 62% of which had history of deceased sibling. Haplotype analysis provided evidence for the probable existence of a founder effect. Age at disease onset ranged from 1 day to 5.5 months (median 2 months). Hepatic dysfunction was observed in 69%, ascite 62%, hypertriglyceridemia 77%, each hyperferritinemia and hypofibrinogenemia 85%, CNS involvement 46% of patients while birth weights were in normal range. Those with very high ferritin (>20,000ng/ml) had extremely low fibrinogen levels. Two-thirds of patients receiving HLH protocol died within 20 days of therapy.

Dual-echo TFE MRI for the assessment of myocardial iron overload in beta-thalassemia major patients.

PURPOSE: Cardiac failure due to myocardial iron overload is the most common cause of death in beta-thalassemia patients. Multi/ two echo times-turbo field echo (TE-TFE) magnetic resonance imaging (MRI) is considered the gold standard technique in the evaluation of myocardial iron accumulation. However, multi TE-TFE technique is not available in all scanners. The aim of our study was to show the role of black blood dualecho cardiac triggered TFE in the assessment of myocardial iron overload. MATERIALS AND METHODS: Sixteen beta-thalassemia major patients (10 males) with a mean age of 19 years who were receiving parenteral deferoxamine and oral deferiprone treatment were included in this study. Baseline measurement of myocardial T2* values were < 20 ms in all patients. Cardiac MRI was performed after 6 months, 12 months, and 18 months with the same technique. RESULTS: The average baseline value of T2* was 8.2 +/- 3.6 ms. After treatment of combined deferoxamine and deferiprone, the average measurements of myocardial T2* at 6, 12, and 18 months were 11.3 +/- 6.0, 13.6 +/- 7.5, and 15.7 +/- 7.4 ms, respectively (P < 0.05). The basal ejection fraction (EF) value was 49 +/- 8.7%. The EFs were 54.4 +/- 11% at 6 months, 54.8 +/- 6.9% at 12 months, and 58.6 +/- 3.6% at 18 months of followup (P > 0.05). CONCLUSION: Cardiac MRI with dual TE-TFE technique can be used to determine myocardial iron accumulation and response to the chelation treatment.