Wpływ przeładowania żelazem na występowanie endokrynopatii u chorych na beta-talasemię major i intermedia

Introduction: Iron overload is a major problem in patients with b-thalassemia major, and it has many structural and metabolic consequences. In this study, we aimed to consider the prevalence of endocrine abnormalities in patients with β-thalassemia major and thalassemia intermedia. Materials and methods: We ordered following tests for consideration endocrine abnormalities: fasting plasma glucose, oral glucose tolerance, iron, total iron binding capacity, ferritin, thyroid-stimulating hormone (TSH), free thyroxin (fT4), free triiodothyronine (fT3), parathyroid hormone levels. Results: According to our study including 70 patients with thalassemia major, 7 (10%) had diabetes, 5 (7.1%) had impaired glucose tolerance, 9 (12.8%) had hypothyroidism, 2 (2.8%) had hypoparathyroidism, 2 (2.8%) had hyperparathyroidism. Of 22 patients with thalassemia intermedia, 1 (4.5%) had diabetes. Conclusions: These findings reinforce the importance of regular follow-up of patients with b-thalassemia major and thalassemia intermedia for early detection and management of associated complications. In this way, the prevalence of endocrine abnormalities can be decreased in future.Wstęp: Przeładowanie żelazem jest częstym problemem u osób chorujących na beta-talasemię major, związanym z wieloma strukturalnymi i metabolicznymi następstwami. Niniejsze badanie przeprowadzono w celu oceny częstości zaburzeń metabolicznych u pacjentów z β-talasemią major i intermedia. Materiały i metody: Przeprowadzono następujące badania pozwalające ocenić zaburzenia gospodarki hormonalnej: glikemia na czczo, doustny test tolerancji glukozy, stężenie żelaza, całkowita zdolność wiązania żelaza, stężenia ferrytyny, tyreotropiny (TSH), wolnej tyroksyny (fT4), wolnej trijodotyroniny (fT3) i parathormonu. Wyniki: Spośród 70 chorych z talasemią major włączonych do niniejszego badania u 7 (10%) osób stwierdzono cukrzycę, u 5 (7,1%) nieprawidłową tolerancję glukozy, u 9 (12,8%) niedoczynność tarczycy, a u 2 (2,8%) nadczynność tarczycy. W grupie 22 chorych z talasemią intermedia 1 (4,5%) osoba chorowała na cukrzycę. Wnioski: Uzyskane wyniki potwierdzają znaczenie regularnych badań u chorych na beta-talasemię major i intermedia, co umożliwia wczesne wykrycie i rozpoczęcie leczenia związanych z tą chorobą powikłań. Takie postępowanie może się przyczynić do zmniejszenia częstości zaburzeń hormonalnych w przyszłości

A case of diabetes mellitus associated with Rett Syndrome

Rett syndrome (RS) is a neurodevelopmental disorder mainly affecting girls. It is characterized by a normal prenatal and perinatal period, apparently normal development for the first 6 months of life, and then a decelaration in head growth, loss of hand and communication skills, psycho motor retardation, as well as the development of sterotyped hand movement and truncal or gait apraxia. It has been shown to be related to mutations in the MECP2 gene located on Xq28. Diabetes mellitus (DM) type 1 may be associated with certain genetic disorders such as Down syndrome, Turner syndrome, and Klinefelter syndrome. In this work, we report the case of a 9-year-old girl with RS who developed DM at the age of 6. To our knowledge, our patient is the third case reported to date of DM associated with Rett syndrome

Decreased ovarian reserve and ovarian morphological alterations in female rat offspring exposed to a ketogenic maternal diet

OBJECTIVE: This study evaluates the effects of a ketogenic diet on morphology and follicle reserve

Effects of zink deficiency and supplementation on some hematologic parameters of rats performing acute swimming exercise

The aim of the study was to investigate how zinc deficiency and supplementation effect some hematologic parameters of rats performing swimming exercise. Forty adult male Spraque-Dawley rats were divided into 4 groups, zinc deficient swimming group (Group 1, n=10), zinc supplemented swimming group (Group 2, n=10), swimming control group (Group 3, n=10), and control group (Group 4, n=10). Blood samples were taken by decapitation and analyzed for the determination of erythrocyte, hemoglobin level, hematocrit, leukocyte, lymphocyte, platelet count and plasma zinc level at the end of the 4 week experiment. Erythrocyte count of group 1 was the lowest whereas erythrocyte count in group 3 was significantly lower than that in group 2 and 4 (p<0.05). Hemoglobin level of group 1 was significantly lower than that of groups 2 and 4 (p<0.05). Hematocrit was significantly lower in both group 1 and group 3 than both groups 2 and 4 (p<0.05). Lymphocyte count in group 2 was significantly higher than in all other groups (p<0.05). Platelet counts in group 2 was significantly lower than in all other groups (p<0.05).  Our findings suggest that zinc deficiency effects the hematologic parameters mentioned negatively whereas zinc supplementation has a positive influence

Estimation of spleen volume and surface area of the newborns' cadaveric spleen using stereological methods

Background: The purpose of this study was to compare different techniques for the estimation of spleen volume and surface area using magnetic resonance imaging (MRI) images, ultrasonography (USG) images and cadaveric specimen, and to evaluate errors associated with volume estimation techniques based on fluid displacement

Eculizumab experience in an adult patient with atypical hemolytic uremic syndrome

Atypical hemolytic-uremic syndrome is a disease characterized by nonimmune hemolytic anemia, thrombocytopenia, and renal failure. In this study, we present a case of a patient with atypical hemolytic-uremic syndrome treated successfully with eculizumab. A 20-year-old female was admitted with clinical signs of atypical hemolytic syndrome. The laboratory findings were as follows: hemoglobin 9.2 g/dL, platelet count 18 × 103/μL, creatinine 4.69 mg/dL, schistocytes were in peripheral blood smear, lactate dehydrogenase 2080 U/L, and emergency plasmapheresis procedure with fresh frozen plasma were initiated. The patient was anuric within 12 h of her admittance. ADAMTS13 activity was normal. Her mother’s cousin developed acute rejection immediately after receiving a renal transplant and died two months later. As she did not respond to the treatment and considering her family history, eculizumab was initiated which resulted in platelet counts starting to rise on day 5, and the patient no longer needed dialysis after 22 days