Hypertrophic cardiomyopathy: a case of symptomatic Japanese type apical hypertrophic cardiomyopathy

A 61-year-old male patient was hospitalized due to the exertional angina pectoris. A diagnosis of apical hypertrophic cardiomyopathy was made by ECG (electrocardiography), echocardiographic, and coronary angiographic findings. This case was reported and related literature was reviewed because of its similarity to Japanese type apical hypertrophic cardiomyopathy (AHCMP) cases rarely seen outside Asia.     

Effects on bone mineral density of gonadotropin releasing hormone analogs used in the treatment of central precocious puberty

The aim of this study was to compare vertebral bone mass values of patients with central precocious puberty (CPP) with healthy age and puberty matched controls and to determine the effect of gonadotropin releasing hormone (GnRH) analogs on bone mass in patients who had been treated at least for 1 year. Girls with idiopathic CPP, 11 pretreatment, 14 post-treatment, and 19 pubertal girls as controls were enrolled in the study. The mean ages of the controls and the patients with CPP pre- and post-treatment were 10.25 +/- 1.06, 8.23 +/- 1.11, and 10.36 +/- 1.82 years, respectively. Leuprolide acetate (Lucrin) 3.75 mg was administered s.c. monthly. Bone measurements were performed by dual energy X-ray absorptiometry (DEXA) (Norland) at the anterior-posterior vertebrae (L2-L4). The post-treatment group's mean BMD value was 0.66 +/- 0.12; Z scores according to CA and BA were 0.32 +/- 10 and 0.30 +/- 1.1, respectively. In the study group, BMD values compared to the control group were normal. No significant change in BMD values was observed after treatment. Neither osteopenia nor osteoporosis was observed in patients taking GnRH analog.     

Soluble P-selectin,interleukin 6, and thrombopoietin levels in children with acute and chronic idiopathic thrombocytopenic purpura and their relationship with mega-dose methylprednisolone therapy: a pilot study

We observed less severe symptoms in patients with chronic idiopathic thrombocytopenic purpura (ITP) than in patients with acute ITP with similar platelet counts. Thrombopoietin (TPO), soluble P-selectin, soluble P-selectin per platelet, and interleukin 6 (IL-6) were evaluated in children with ITP before treatment in 16 acute and 22 chronic cases and after treatment in 10 acute and chronic cases who received mega-dose methylprednisolone. The levels of IL-6, soluble P-selectin, soluble P-selectin per platelet, and platelet count were similar in acute and chronic ITP (P > 0.05) but TPO in acute ITP was higher than that of the patients with chronic ITP (P < 0.05). The posttreatment IL-6 and TPO declined (P < 0.05), but soluble P-selectin and platelet count increased (P < 0.05). Posttreatment soluble P-selectin per platelet levels were higher than the normal values (P < 0.05). These results suggest that IL-6, soluble P-selectin, and soluble P-selectin per platelet are not responsible for the milder symptoms in chronic than in acute ITP. Mega-dose methylprednisolone seems to keep the soluble P-selectin levels elevated.     

The importance of cell size and surface marker analysis in childhood acute myeloblastic leukemia.

In order to evaluate the prognostic significance of cell size and surface marker expression, we evaluated 33 children with newly diagnosed acute myeloblastic leukemia by flow cytometry. We determined: the percentage of small, middle and large cells; large to small cell ratios (LS); large plus middle to small cell ratios (LMS); the percentage of surface markers expressed by each group of cell; the ratios of surface marker percentages expressed by the large blasts to that expressed by small blasts (LS for surface markers); and large plus middle blasts to that by small blasts (LMS for surface markers). For 'early prognosis', patients who could and could not achieve remission (n = 23 and 10) and for late prognosis, the patients who deceased or relapsed within the first 12 months of the treatment (n = 24) and who survived for more than 12 months (n = 9) were compared, in two classifications. CD3 percentages of the small cells of alive patients were significantly higher than that of dead or relapsed patients. LMS for CD3 and CD20 and LS for CD20 were higher in dead relapsed patients than that of alive patients. The total percentage of CD14 was significantly higher in dead relapsed patients than it was in the alive patients and CD3 was significantly higher in the group of patients who achieved remission than that of the patients who could not achieve remission. It was striking that, expression of CD3, CD7, CD22, CD33, CD14, CD15, CD34 increased or decreased as to cell size, whatever the prognosis. CD10, CD20 and CD13 were expressed on the large cells of the patients who could not achieve remission or died relapsed. We showed that, the blast cell size, individually does not have any prognostic significance in childhood AML and the prognostic significance of surface markers not only depends on their presence or absence but also on their relative configuration of expression by the blasts with different size.     

Two siblings with isolated GH deficiency due to loss-of-function mutation in the GHRHR gene: successful treatment with growth hormone despite late admission and severe growth retardation

Patients with growth hormone releasing hormone receptor (GHRHR) mutations exhibit pronounced dwarfism and are phenotypically and biochemically indistinguishable from other forms of isolated growth hormone deficiency (IGHD). We presented here two siblings with clinical findings of IGHD due to a nonsense mutation in the GHRHR gene who reached their target height in spite of late GH treatment. Two female siblings were admitted to our clinic with severe short stature at the age of 13.8 (patient 1) and 14.8 years (patient 2). On admission, height in patient 1 was 107 cm (-8.6 SD) and 117 cm (-6.7 SD) in patient 2. Bone age was delayed in both patients (6 years and 9 years). Clinical and biochemical analyses revealed a diagnosis of complete IGHD (peak GH levels on stimulation test was 0.06 ng/mL in patient 1 and 0.16 ng/mL in patient 2). Patients were given recombinant human GH treatment. Genetic analysis of the GH and GHRHR genes revealed that both patientscarried the GHRHR gene mutation p.Glu72X (c.214 G>T) in exon 3 in homozygous (or hemizygous) state. After seven years of GH treatment, the patients reached a final height appropriate for their target height. Final height was 151 cm (-1.5 SD) in patient 1 and 153 cm (-1.2 SD) in patient 2. In conclusion, genetic analysis is indicated in IGHD patients with severe growth failure and a positive family history. In spite of the very late diagnosis in these two patients who presented with severe growth deficit due to homozygous loss-of-function mutations in GHRHR, their final heights reached the target height.