MRI for the determination of pituitary iron overload in children and young adults with beta-thalassaemia major

Hypogonadism, resulting from iron-induced pituitary dysfunction, is the most frequently reported complication in patients with beta-thalassaemia major. The aim of this study was to evaluate pituitary Magnetic Resonance Imaging (MRI) signal intensity reduction, on T2*-weighted images, as a marker of pituitary iron overload. Thirty patients (13 females and 17 males, mean age: 16.6+/-4.1) with beta-thalassaemia major on conventional treatment and 13 healthy volunteers (7 females and 6 males, mean age: 11+/-4.51 years) were studied with T2*-weighted images of the anterior pituitary using a 1.5T unit. Four thalassaemic patients (2 females and 2 males) had clinical hypogonadism and required hormonal replacement treatment. Results revealed a statistically significant reduction of pituitary signal intensity in the thalassaemia group compared to controls (p<0.001). Moreover, hypogonadal patients had significantly decreased MRI values compared to thalassaemic patients without hypogonadism (p=0.017). Relatively decreased adeno-hypophyseal MRI signal intensity was recorded in pubertal thalassaemic patients. A significant negative correlation was observed between pituitary MRI values and age (r=-0.67, r(2)=0.443, p=0.001), whereas ferritin levels and pituitary MRI values were moderately correlated (r=-0.56, r(2)=0.32, p=0.08) in adult thalassaemic patients. In conclusion, pituitary MRI indices as measured on T2*-weighted images seem to reflect pituitary iron overload and could, therefore, be used for a preclinical detection of patients who are in greater danger of developing hypogonadism.     

Pain in different methods of breast biopsy: emphasis on vacuum-assisted breast biopsy

This study examines pain (visual analog scale 0-10) in women undergoing breast biopsy. Two hundred and twenty-seven patients with a palpable lesion underwent FNA (21G, n=85), core biopsy (14G, n=86) or open biopsy under local anesthesia (n=56). One hundred and twenty-six women presented with a non-palpable lesion, and underwent vacuum-assisted breast biopsy (VABB, 11G) under mammographic guidance, prone position (n=72) or hook-wire localization followed by open surgery (n=54). The techniques sampling non-palpable lesions were the most painful: hook-wire (9.15+/-0.74) and VABB (4.35+/-1.70). Larger needle diameter was associated with more intense pain. Concerning VABB, an S-shape curve of pain (third-order pattern) was documented. A second dose of lidocaine just before the rapid increase phase was then adopted (n=61), and reduced the total/maximum pain. In conclusion, although VABB is less painful than hook-wire, the pain experienced in VABB is significant; however, it can be attenuated by a second dose of lidocaine.     

Diabetes mellitus increases the prevalence of anemia in patients with chronic kidney disease: A nested case-control study

AIM: To compare anemia prevalence between matched chronic kidney disease (CKD) patients with and without diabetes mellitus (DM) and to assess factors associated with anemia development. METHODS: This is a nested case-control study of 184 type-2 diabetic and 184 non-diabetic CKD patients from a prospectively assembled database of a Nephrology outpatient clinic, matched for gender, age and estimated glomerular filtration rate (eGFR). Prevalence of anemia (hemoglobin: Men: < 13 g/dL, women: < 12 g/dL and/or use of recombinant erythropoietin) was examined in comparison, in the total population and by CKD Stage. Univariate and multivariate logistic regression analyses were conducted to identify factors associated with anemia. RESULTS: The total prevalence of anemia was higher in diabetics (47.8% vs 33.2%, P = 0.004). Accordingly, prevalence was higher in diabetics in CKD Stage 3 (53.5% vs 33.1%, P < 0.001) and particularly in Stage 3a (60.4% vs 26.4%, P < 0.001), whereas it was non-significantly higher in Stage 4 (61.3% vs 48.4%; P = 0.307). Serum ferritin was higher in diabetics in total and in CKD stages, while serum iron was similar between groups. In multivariate analyses, DM (OR = 2.206, 95%CI: 1.196-4.069), CKD Stages 3a, 3b, 4 (Stage 4: OR = 12.169, 95%CI: 3.783-39.147) and serum iron (OR = 0.976, 95%CI: 0.968-0.985 per mg/dL increase) were independently associated with anemia. CONCLUSION: Prevalence of anemia progressively increases with advancing stages of CKD and is higher in diabetic than matched non-diabetic CKD patients and diabetes is independently associated with anemia occurrence. Detection and treatment of anemia in diabetic CKD patients should be performed earlier than non-diabetic counterparts.     

Hyponatraemia in cases of children with pneumonia

Introduction

Hyponatraemia is the most common electrolyte imbalance seen in clinical practice, and a common laboratory finding in children with community-acquired pneumonia (CAP). This study aimed to identify the incidence of hyponatraemia in cases of CAP, to find predictive tools in order to classify the severity and outcome of CAP and to explore possible differences of clinical importance between the two sexes.

Material and methods

The medical files of 54 children (66.4% males), 4.67 ±2.88 years old, were retro-prospectively reviewed.

Results

35/54 (64.8%) children with pneumonia had normal values of sodium at admission, 18/54 (33.3%) had mild hyponatraemia and 1 child (1.9%) moderate hyponatraemia. Increased heart rhythm and tachypnoea at admission were correlated with lower values of sodium (z= −2.664, p = 0.007 and z = −1.705, p = 0.089 respectively). No differences were found between the two sexes concerning the characteristics of pneumonia or the range of sodium in serum at admission. A correlation was found between sodium admission values and: a) C-reactive protein (p = 0.000), and b) leukocyte count (p = 0.006). Sedimentation rate (p = 0.021) was also considered as a possible risk factor affecting the value of sodium at admission to hospital. Finally, a negative association was also observed between the degree of hyponatraemia and the duration of hospitalization (z = −3.398, p = 0.001).

Conclusions

Although studies in larger population groups are needed, in our study increased heart rhythm, tachypnoea, leucocyte count, C-reactive protein, and also erythrocyte sedimentation rate could be considered as possible risk factors influencing the degree of hyponatraemia, and thus the outcome of hospitalized children with CAP.     

Physiologically important secondary modifications of red cell membrane in hereditary spherocytosis-evidence for in vivo oxidation and lipid rafts protein variations

Hereditary spherocytosis (HS) is a heterogeneous group of disorders. The abnormal red cell morphology (resulting in shortened cell survival) is due to a primary deficiency in spectrin, ankyrin-1, band 3 or protein 4.2. Secondary protein deficiencies are often observed and may be involved in the outcome of the disease. In the present study, we searched for secondary erythrocyte membrane protein alterations in HS, including the lipid raft associated proteins and the oxidative index. For this purpose, 12 patients with clinical and laboratory diagnosis of mild to typical HS were examined. Erythrocyte membrane ghosts and skeletons were subjected to SDS-PAGE and immunoblotting analysis using antibodies against red cell membrane proteins and DNP moiety, after 2,4-dinitrophenylhydrazine derivatization. Protein deficiencies, degradation, aggregation and enhanced binding of cytoplasmic components, band 8, hemoglobin and immunoglobulins G to the membrane as well as increased oxidative index, were found in the majority of the HS patients. Proportion of the membrane- and skeleton-bound globin was oxidized/denatured Hb or hemichromes and crosslinkings. Some HS membranes are deficient in lipid rafts proteins and contain sorcin. A context of these distortions is more pronounced in typical HS cases compared to the mild ones. Similar defects in thalassemia and senescent RBCs are dictated by increased oxidative stress and are positively correlated with perturbations in membrane properties. These data add some new insight in the field of HS pathophysiology and clinical variability.     

Carrier screening and prenatal diagnosis of hemoglobinopathies. A study of indigenous and immigrant couples in northern Greece, over the last 5 years

Hemoglobinopathies constitute the most frequent monogenic disorders worldwide and thalassemias are the most frequent genetic disorders in Greece. Over a 5-year period (2002-2006), 1,375 couples were screened for hemoglobinopathies and counseled at our Thalassaemia Prevention Unit, Hippokration Hospital, Thessaloniki, Greece. In 148 cases (10.7%), both partners carried an abnormal hemoglobin (Hb) gene and genetic counseling was offered. One hundred out of 116 pregnancies were at-risk of giving birth to an offspring carrying either the homozygous or double heterozygous forms of the mutations under discussion. The remaining 16 pregnancies involved couples who were heterozygous for mutations that did not cause severe clinical disease, and were exempted from prenatal diagnosis. Twenty-six fetuses were found to be homozygotes or double heterozygotes for clinically significant mutations. These couples were informed of the danger of having an affected child but the termination or continuation of the pregnancy was left to the couples to decide. Nevertheless, all the couples preferred to terminate the pregnancies. The National Thalassaemia Prevention Programme has effectively decreased the incidence of thalassemia major and sickle cell syndromes in Greece.     

Treatment of pulmonary hypertension with riociguat: a review of current evidence and future perspectives

ABSTRACT

Introduction

Pulmonary arterial hypertension (PAH) is still a chronic disorder characterized by high morbidity and mortality. Chronic thromboembolic pulmonary hypertension (CTEPH) is another form of pulmonary hypertension (PH) for which pulmonary endarterectomy (PEA) is the treatment of choice. However, not all patients are operable, while PH is often recurrent or persistent. Thus, for both disorders novel treatment options are urgently needed.