National registries constitute an invaluable source of information and contribute to the improvement of hemoglobinopathy management. Herein, we present the second updated report of the National Registry for Haemoglobinopathies in Greece (NRHG) and critically discuss the time trends in demographics, affected births, and causes of mortality. Thirty-eight Greek hemoglobinopathy units reported data from diagnosis to the last follow-up or death by retrospectively completing an electronic form. Four thousand thirty-two patients were eligible for inclusion; more than half of them had thalassaemia major. Compared to the previous report, a reduction in the total number of all hemoglobinopathies except for hemoglobinopathy "Η" was evident. The total number of affected births was also reduced; most of them were attributable to diagnostic errors and lack of awareness. Importantly, data on iron overload are reported for the first time; although most patients had low or moderate liver iron concentration (LIC) values, a non-negligible proportion of patients had high LIC. The burden due to heart iron overload was less prominent. Cardiac- and liver-related complications are the major causes of morbidity and mortality. From 2000 to 2015, a decrease in heart-related deaths along with an increase in liver-associated fatalities was observed. The Hellenic Prevention Program along with advances in chelation regimens and iron status monitoring have resulted in improved patient outcomes. The NRHG gives insight into the effectiveness of prevention programs, the therapeutic management of hemoglobinopathies and associated outcomes. NRHG may contribute to the formulation of a roadmap for hemoglobinopathies in Europe and promote the implementation of effective public health policies.
The possible relationship between diabetes mellitus (DM) and colorectal cancer (CRC), concerning pathophysiological and molecular mechanisms is highlighted in this review. The most recent and complete articles and developments in this particular field were thoroughly reviewed. Common risk factors, such as obesity, sedentary lifestyle, and Western diet between DM and CRC, led to the theory that DM might be a causal agent for CRC development. Various studies have connected type 2 DM and CRC, either proximal or distal, in both sexes. Additionally, chronic insulin treatment has been linked with increased colorectal tumor risk among type 2 diabetic patients. Interestingly, elevated hemoglobin A1c has been proven to be an independent predictor of aggressive clinical behavior in CRC patients. These mechanisms include the insulin-like growth factor-hyperinsulinemia theory and the participation of oncogenic intracellular signaling pathways. Furthermore, it has been proposed that Cox-2 inhibitors might have a role in decreasing the incidence of CRC. Finally, the use of statins to reduce the risk for colon cancer in patients with diabetes has remained controversial. Diabetic patients over 50 should receive counseling regarding their elevated risk for CRC, and screening colonoscopy should be recommended before initiating insulin therapy. However, there are no current guidelines, and this strategy is not yet applicable to some countries, as the corresponding risk would not allow screening colonoscopy to be adopted. There is strong evidence to indicate that DM is a causal agent for CRC development. This conclusion provides new impetus for re-evaluating CRC screening worldwide.
Primary cutaneous anaplastic large-cell lymphoma (PC-ALCL), belonging to the CD30+ T-cell lymphoproliferative disorders (PCLPDs), is a rare T-cell lymphoma, presenting on the skin and characterized by very good prognosis and response to treatment in the majority of cases. Nevertheless, PC-ALCL must be distinguished from secondary skin lesions in systemic ALCL, which confer a poor prognosis, and other CD30+ PCLPDs, reactive conditions, or borderline cases. Given their rarity and heterogeneity, these entities represent diagnostic and therapeutic challenges, thus requiring a multidisciplinary approach and expertise to ensure appropriate diagnosis and management. There are several perils and pitfalls that exist regarding the differential diagnosis, the possible progression, and the treatment of PC-ALCL. Careful staging, correlation of clinical findings with histopathology and immunopathology, and thorough follow-up are essential in order to achieve a correct diagnosis and proper treatment of the disease.
We observed high incidence of anemia in patients with cerebral palsy sheltered in a specialized institution in Thessaloniki, Greece. Therefore, we decided to investigate its cause. We studied 108 patients, and assessed complete blood cell count, peripheral blood smear, serum iron, ferritin, folate, B12 and the presence of hemoglobin or parasites in the stools. In all cases, anemia was hypochromic and microcytic. Approximately 33% of patients suffered from hypochromic anemia, whereas 38% were iron deficient. There was no statistical difference in the incidence of iron deficiency between different age groups. All tests for fecal occult blood or intestinal parasites were negative. Folic acid and B12 levels were within normal range in all cases. We also found that 87 and 95.6% of patients on liquid diet were anemic and iron deficient, respectively, compared to only 18.8 and 22.3% of patients on normal diet. The high incidence of anemia was attributed to iron deficiency which was secondary to inadequate iron intake and decreased iron absorption. Thus, it would not be irrational to consider iron supplementation as the first measure in such patients and postpone endoscopic procedures for a later stage, unless there are clinical or laboratory findings (such as fecal occult blood) suggestive of gastrointestinal blood loss.
Primary cutaneous anaplastic large cell lymphoma (PC-ALCL) is a rare and distinct neoplasm appearing de novo on the skin. We present a case of a 75-year-old man diagnosed with PC-ALCL in his left femoral region. We describe the morphology of lesions along with the differential diagnosis, treatment, clinical course and prognosis. We further discuss parameters concerning treatment that should be considered when a PC-ALCL is diagnosed. Our case report demonstrates the complexity in classification, staging, differential diagnosis and therapy selection of PC-ALCLs. It is crucial to emphasize the importance of clinical criteria in diagnosing a PC-ALCL in combination with immunohistochemistry.
Pure red cell aplasia (PRCA) is a rare bone marrow failure syndrome defined by a progressive normocytic anaemia and reticulocytopenia without leukocytopenia and thrombocytopenia. Secondary PRCA can be associated with various haematological disorders, such as chronic lymphocytic leukaemia (CLL) or non-Hodgkin lymphoma (NHL). The aim of the present review is to investigate the infrequent association between PRCA and lymphoproliferative disorders. PRCA might precede the appearance of lymphoma, may present simultaneously with the lymphoid neoplastic disease, or might appear following the lymphomatic disorder. Possible pathophysiological molecular mechanisms to explain the rare association between PRCA and lymphoproliferative disorders are reported. Most cases of PRCA are presumed to be autoimmune mediated by antibodies against either erythroblasts or erythropoietin, by T-cells secreting factors selectively inhibiting erythroid colonies in the bone marrow or by NK cells directly lysing erythroblasts. Finally, focus is given to the therapeutical approach, as several treatment regimens have failed for PRCA. Immunosuppressive therapy and/or chemotherapy are effective for improving anaemia in the majority of patients with lymphoma-associated PRCA. Further investigation is required to define the pathophysiology of PRCA at a molecular level and to provide convincing evidence why it might appear as a rare complication of lymphoproliferative disorders.
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