Persistent vacuoles in leukocytes: familial Jordans anomaly.

Multiple persistent vacuoles were seen in the neutrophils, monocytes and eosinophils of a 9 year old boy and his 10 year old sister. The siblings were both asymptomatic. In the bone marrow, the cytoplasmic vacuoles were also present in the promyelocytes, myelocytes and metamyelocytes, but not in the myeloblasts and they tended to be single and large in immature cells. The cytoplasmic vacuoles did not stain with PAS, Sudan Black or Oil Red O; Sudan III positivity of the vacuoles was found only in a very small number of granulocytes. The vacuoles appeared as round and bright bodies with phase contrast microscopy. By electron microscopy, the vacuoles contained material of low electron density and had no surrounding membrane. Granulocyte functions were unimpaired. Muscle biopsy showed normal morphology. This anomalous vacuolization of the leukocytes is consistent with familial Jordans anomaly.

The molecular basis of beta-thalassemia in Turkey.

By using oligonucleotide hybridization, restriction endonuclease analysis and direct sequencing of amplified genomic DNA, we have been able to characterize 18 different mutations in the beta-globin genes of 161 beta-thalassemia homozygotes and 107 beta-thalassemia heterozygotes from Turkey (429 beta-thalassemia chromosomes). Previous studies dealing with beta-thalassemia in Mediterranean countries have shown that, in most Mediterranean populations, only a few mutations are prevalent. In contrast, beta-thalassemia in Turkey does not seem to be associated with a few predominant mutations. The six most frequent alleles, IVS-I-110 (G----A), IVS-I-6(T----C), FSC-8 (-AA), IVS-I-1(G----A), -30(T----A) and FSC-5 (-CT), account for only 69.3% of the disease genes; indeed, all 26 mutations assayed represent 85.8% of the disease genes, confirming the considerable molecular heterogeneity of beta-thalassemia among Turks, and indicating the possible presence of rare, previously undefined, mutations in the population. Two mutations observed in this study, IVS-I-116 (T----G) and Cd44(-C), have not been reported in the Turkish population to date. Since preventive medical services, such as genetic counseling and prenatal diagnosis, are greatly improved by detailed knowledge of the molecular pathology of beta-thalassemia, we strongly believe that the presented data will facilitate the intended establishment of a prenatal diagnosis center, based on DNA analysis, in Turkey.

Evaluation of growth hormone secretion and insulin-like growth factor-1 in prepubertal children with thalassemia.

Growth retardation is a clinical feature of patients with thalassemia major, and endocrine studies have frequently revealed the presence of normal growth hormone (GH) secretion. The present study was undertaken in 14 prepubertal thalassemic children (9 males and 5 females), aged 2(2/12) to 10(3/12) years, with the aim of evaluating GH response to i.v. arginine, oral L-dopa stimulation and insulin-like growth factor-1 (IGF-1) levels. Eleven patients had peak serum GH levels less than 7 ng/ml and two patients had peak serum GH levels of 7-10 ng/ml with arginine. Similarly, 10 patients had peak levels less than 7 ng/ml and one patient had a peak level of 7-10 ng/ml with L-dopa. Thus, nine of the patients had GH deficiency and two had partial GH deficiency. Three patients had elevated basal GH values. The serum IGF-1 levels in the patients were not statistically different from the levels in the controls, but three patients had low IGF-1 values. These findings suggest a defect in the regulatory mechanisms of GH secretion.

A rare entity among childhood malignant lymphomas (large anaplastic T-cell Ki-1 +).

A case of peripheral type T-cell lymphoma is presented to underline the difficulty in distinguishing the initial clinical findings of an inflammatory neoplastic disorder since the diagnosis could only be arrived at after several repeated lymph node biopsies. An 11 10/12-year-old boy admitted to the hospital with inguinal lymph node enlargement was diagnosed as having adenitis and periadenitis. The disease had progressed and the patient had remittent fever rising to 39 degrees C, and another biopsy was taken. Cervical lymphadenomegaly was present, A diagnosis of chronic lymphadenitis with lymphocyte loss and fibrosis was established. The diagnosis could only be made from biopsy material taken from the deep cervical (jugularis interna) and axillary lymph nodes one year later, which showed Ki-1 antigen positive large T-cell lymphoma. The disease showed continuous activity in spite of chemotherapy and the child survived only 17 months.

Intestinal effects of iron deficiency anemia in children.

A group of 11 children with iron deficiency anemia were studied with respect to intestinal structure and function. In six cases there were histological abnormalities of intestinal mucosa in varying degrees consisting of villous damage, increased activity in the crypts, increased lymphoplasmocytic infiltration and changes in the surface epithelium. Ultrastructurally, microvilli lesions, mitochondrial changes and an increase in lysosomes were observed. Relative malabsorption of iron and d-xylose malabsorption were present in a minority of patients. Functional and structural changes were correlated. Our results suggest that these changes are due to impairment of cell metabolism.

Wilms' tumor: prognostic factors and survival.

A statistical analysis of 38 cases of Wilms' tumor treated and followed by the Pediatric Oncology Group of Cerrahpasa Medical Faculty, from 1977 to 1984, is presented. The two-year survival rate was 67% and the five-year survival rate was found to be 63%. There was a strong correlation between the stage and age of the patients and prognosis. The median age was 16 months in stages I and II of the disease and the two-year survival rate was 87%. The median age was found to be 5 years in advanced stages and the survival rate at 2 years was 43%. No correlation was found between survival and initial symptoms of the tumor or its localization. The effects of histological grade on prognosis of disease were also investigated.

Small non-cleaved follicular center cell lymphoma in Turkey. Burkitt's and non-Burkitt's types. A retrospective clinicopathologic analysis of 53 cases in the pediatric age group.

Fifty-three patients in the pediatric age group diagnosed as having small non-cleaved follicular center cell (FCC) lymphoma (40 Burkitt's and 13 non-Burkitt's type) have been re-evaluated. Although the histopathologic distinction between the two subgroups is fairly easy to determine there is a considerable degree of clinical overlap in regard to age, sex, anatomic presentation of the disease, the incidence of bone marrow and central nervous system involvement, and the survival. The most important determinant of survival in both subgroups is the stage of the disease.

[Deformity of the skull vault due to hypertrophy of red marrow in cases of anaemia ]. / Deformation der Schädelkapsel bei Anämien durch Wucherung des roten Knochenmarks.

The shape of the head is often markedly changed in certain anaemic disorders, e.g. thalassaemia, congenital haemolytic anaemia and severe juvenile iron deficiency anaemia. However, this does not affect the basic structure of the skull and its characteristics. Rather, there is a strong thickening of the cranial bones; careful examination shows a deformation of the bones and skull cap. These changes are due to the overgrowing red marrow, which occurs in the same manner in anaemics although the origin of their disease is of course an entirely different one.

[The effect of changes in the bones of the skull due to Mediterranean anaemia on the shape of the skull and the formation of the cranial cavity (author's transl)]. / Welchen Einfluss haben die Veränderungen an den Schädelknochen bei den Mittelmeeranämien auf den Bauplan des Schädels und auf die Gestaltung der Schädelhöhle?

The head and skull in patients with Mediterraneen anaemia show often a marked change of the external shape due mainly to the considerable enlargement of the cranial bones. From the abnormal external appearance the suspicion may arise that the form and space of the internal cranial cavity are likewise affected and even the basic structure of the skull is altered. However, a detailed investigation of the principal angles, distances and characteristic structures of the skull made on lateral roentgenograms of these patients, a comparison of the results between cases with different intensity of the osseous changes and a confrontation with the findings in normal individuals proved that there were no major discrepancies. The essential features of the human skull were always preserved. Only in some cases with severe alterations of the cranial bones a few small deviations from the normal values could be noticed and in a little number of them signs of a slight narrowing of the cranial cavity werde to be observed. This way was probably caused by a very early, rapid and extreme enlargement of the cranial bones resulting in a kind of "premature panzer-skull."