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Deficiency of the A subunit of coagulation factor XIII causes a severe bleeding disorder requiring life long replacement therapy. The mutations causing A subunit deficiency appear to be very heterogeneous, and it is impractical to identify each mutation before genetic counselling or prenatal diagnosis can be attempted. In this study we have shown that a highly polymorphic short tandem repeat element, HUMF13A01 (AAAG)n that occurs in the 5' flanking sequence of the factor XIII A subunit gene, can be used to follow the segregation of deficiency causing mutations. We studied 6 families with factor XIII A subunit deficiency from 5 different ethnic groups. All parents were heterozygous for the repetitive element and therefore all the families were informative. The linked polymorphism was used to carry out the first prenatal diagnosis of factor XIII A subunit deficiency. The analysis of this polymorphism by the polymerase chain reaction is rapid, reliable, requires little DNA and is ideal for the genetic analysis of factor XIII A subunit deficiency.

The amplification of factor XIII A subunit gene exons and heteroduplex analysis has been used to identify two new mutations that cause severe factor XIII deficiency. One mutation in a family of French origin results from a 4 bp deletion and leads to a premature termination of translation. The other mutation occurred in a Turkish family and results from a C-->T transition that inserts a premature translation stop signal at codon 400. Both mutations alter restriction enzyme sites and can be readily detected in amplified exon DNA for genetic counselling or prenatal diagnosis. The new mutations reflect the extensive molecular heterogeneity of factor XIII deficiency.

Neutrophil chemotaxis and random migration were evaluated in 21 patients with thalassemia major and 21 healthy controls by a filter technique (Boyden chamber). Chemotactic and random migrations in patient group were found to be defective, which may partially account for the increased susceptibility to infection occasionally observed in these patients. The effects of serum ferritin levels, transferrin saturations that show iron overload, total count of blood transfusions for chronic immunostimulation, desferrioxamine therapy, and splenectomy on these neutrophil functions were examined in thalassemic patients in order to determine whether they are responsible for these defective functions because the mechanism of abnormal neutrophil chemotaxis and random mobility in thalassemic patients is not still clear.

A girl with Turner syndrome was admitted with an acute cerebrovascular occlusive disease 15 days after mumps infection. Imaging techniques such as Doppler echocardiography, computed tomography and angiography of the heart revealed the existence of masses in both atria. Eight days after the last radiologic study the patient had an operation, but no masses were found in either atrium. It was thought that atrial thrombi, probably formed after viral infection, had broken down to form emboli and disappeared. It is proposed that the patients with congenital cardiopathy should be regularly examined after viral infections for possible intracardiac thrombus formation. If such a mass is found and the decision is to operate, the existence of the mass must be confirmed even in the operating room just before intervention.

Chronic idiopathic thrombocytopenic purpura (ITP) is an autoimmune disease characterized by the antibody-mediated destruction of platelets. To maintain the platelets above the symptomatic level we administered 100 micrograms of anti-D for 5 consecutive days to 19 children with ITP. Four patients did not respond to the treatment. Fifteen responded with an increase in the average platelet number to 76,000/microL 7 days postinjection. However, the platelet count dropped within 45 days to 27,000/microL. Three months after this study, two patients from the study group were then administered monthly anti-D after reinjecting anti-D daily for 5 consecutive days, as previously performed. Platelet levels in these two patients were maintained above 30,000/microL for 5 and 6 months respectively. We concluded that anti-D administration for 5 consecutive days can induce an increase in platelets followed by a decrease below 30,000/microL after 30-45 days. However, monthly administration of anti-D after daily injections for 5 consecutive days can keep platelets above the symptomatic level and may provide a corticosteroid-free safe interval for nearly 5 months.

Increased blood viscosity has been previously noted in a subgroup of patients with essential hypertension with concomitant high plasma renin activity (PRA). It has been suggested that the cause of hyperviscosity in hypertensives is the presence of circulating red blood cells (RBCs) that were rendered less deformable by significant alterations in their cationic milieu, namely an increase in intracellular concentration of calcium and sodium. The relation between RBC deformability and PRA however is not clear. Our study was conducted to examine this issue. RBC deformability was reduced experimentally, and its effects on renal blood flow, renal artery resistance, glomerular filtration rate and PRA were investigated in experimental (n = 8) and control (n = 4) groups of dogs. Blood was collected from the animals before the experiments and incubated with 0.025% glutaraldehyde. These hardened RBCs were administered to the animals through exchange transfusions. Following the exchange transfusion with the hardened RBCs, there were no changes in renal blood flow, renal artery resistance, and the creatinine clearance. The only change observed was an increase in PRA. In the control group, all parameters that were determined remained unchanged. The data are consistent with the notion that the presence of circulating hardened RBCs may by itself increase PRA, and this effect can be important in some types of hypertension and some other disorders in which impaired deformability of RBCs have been reported.

We describe 50 patients with suppurative regional lymphadenitis following intradermal BCG vaccination. For non-drained suppurations we performed needle aspiration in twenty-three patients (aspiration group). Of the remaining 27 patients (drainage group) 16 had spontaneous drainage and 11 incisional drainage. In the drainage group, 17 patients were followed up conservatively. Ten patients from the drainage group and 3 patients from the aspiration group (drained after needle aspiration) accepted total surgical excision to terminate the drainage. Twenty of twenty-three patients in the aspiration group recovered after needle aspiration. Average period of cessation of drainage and healing of wound was 7.5 weeks in patients with drainage (spontaneous and incisional). Healing was complete after total surgical excision of draining suppurations in all of 11 patients. We concluded that simple needle aspiration was sufficient for the treatment of suppurating but non-drained BCG lymphadenitis. For suppurating lymph nodes that were surgically (not recommended) or spontaneously drained, a more invasive procedure, total surgical excision, was proposed to terminate the long and disturbing drainage period.

Selected hematological parameters and erythrocyte deformability indexes for 16 young male military students were compared before and after a period of exposure to heavy pollution. These students lived in Ankara, which has a serious air pollution problem. The mean sulfur dioxide levels measured at a station proximal to the campus where the students lived were 188 micrograms/m3 and 201 micrograms/m3 during first and second measurements, respectively. During the period between the two measurements, the mean sulfur dioxide level was 292 micrograms/m3. Significant erythropoiesis was indicated by increased erythrocyte counts and hemoglobin and hematocrit levels. Methemoglobin percentage was increased to 2.37 +/- 0.49% (mean +/- standard error) from 0.51 +/- 0.23%. Sulfhemoglobinemia was present in six subjects after the period of pollution, but it was not present in any student prior to this period. Significant increases in erythrocyte deformability indexes were observed after the period of pollution, i.e., from 1.13 +/- 0.01 to 1.21 +/0 0.02, implying that erythrocytes were less flexible, which might impair tissue perfusion.

1. Two major proteins (P1 and P2) are synthesized by the fifth instar larval fat body of Manduca sexta and then released into the hemolymph. 2. These proteins are later sequestered by the pre-pupal fat body. 20-Hydroxyecdysone does not appear to affect the synthesis of either protein. 3. When day 2 fifth instar larvae are neck-ligated there is an excessive synthesis (supersynthesis) of P2 (arylphorin). 4. Juvenile hormone I (JH I) applications to ligated animals had no effect, but brain homogenate injections resulted in the inhibition of P2 synthesis. 5. Neck ligations of larvae between days 5 and 6 revealed a head critical period between day 5 + 12 hr and day 5 + 18 hr, after which the head is unnecessary for the sequestration of either protein by the fat body. 6. JH I and JH III applications to ligated larvae before the head critical period do not restore the ability of the fat body to sequester the storage proteins. 7. P1 and P2 appear to be synthesized differentially and P2 is sequestered by the fat body to a much lesser extent than P1. 8. P2 is the hemolymph storage protein of both larval and pupal stages, whereas P1 appears to be the storage protein of the pupal fat body. 9. The data indicate that the synthesis of arylphorin and the resorption of both proteins are controlled by a putative head factor(s).

Between January 1983 and June 1988, 30 unsuspected foreign bodies were extracted from the respiratory tracts of children. Twelve of them showed no roentgenologic findings and their histories revealed repeated hospitalization due to reactive airways disease (RAD) or croup syndrome. As a test-therapy, theophylline, corticosteroids and epinephrine were administered simultaneously to these patients in appropriate doses. No response was obtained in two patients with subglottic foreign bodies (SFB). In seven of the ten patients with bronchial foreign bodies (BFB), wheezing was either decreased or disappeared in the uninvolved lung, but no change was observed in the lung with a foreign body in its main bronchus.

We describe 120 patients with regional lymphadenitis following intradermal BCG vaccination. Seventy-eight of the patients were given medical therapy to prevent drainage and suppuration, and 42 patients were followed up without such treatment. The medical therapy group is divided into three subgroups: 36 were given erythromycin stearate, 21 isoniazid, and 21 isoniazid plus rifampin. No statistical difference in the incidence of spontaneous drainage and suppuration was found between the "no therapy" and the "medical therapy" groups. No significant superiority of any specific therapy was shown. If lymphadenitis develops rapidly (in two months), the incidence of spontaneous drainage and suppuration is significantly higher than in patients with slowly developing lesions. Total surgical excision is recommended to prevent spontaneous drainage and chronic suppuration in these rapidly evolving instances.

The incidence of neural tube defects was monitored among all live- and still-births delivered between June 1986 and July 1988. In all there were 19,115 total births. The incidence of neural tube defects (NTD) was 1.9 per 1000 among those whose conception time was prior to May 1986. However, in conceptions occurring in May, June and July 1986, the NTD rate increased to a level of 8.9 per 1000, subsequently gradually declining to previous levels within 9 months. This dramatic change in incidence, which parallels a previous finding from Turkey, suggests that this finding may be associated with the Chernobyl disaster of May 1986.