Hemoglobin SC, SS/GPhiladelphia and SOArab diseases diagnostic importance of an integrative analysis of clinical, hematologic and electrophoretic findings.

Hemoglobin studies are presented on two children in whom electrophoretic analysis of hemolysates at alkaline pH initially suggested the diagnosis of hemoglobin SC disease. In both patients the course of the disease was unusually severe, blood smears contained irreversibly sickled cells, and crystal formation did not occur when red cells were incubated in 3 per cent sodium chloride solution. Each of these findings is inconsistent with the interpretation of the electrophoretic patterns. Family studies demonstrated that one of the patients had sickle cell anemia and was also a carrier of an alpha chain variant; citrate agar electrophoresis at pH 6.2 of the second child's hemolysate revealed that the "C-like" hemoglobin was not hemoglobin C. Tryptic peptide analyses of the nonhemoglobin S fractions showed that the first child has SS/GPhiladelphia disease and that the second child has SOArab disease. These observations emphasize the importance of integrating the clinical and hematologic data with the results of electrophoretic procedures in order to define precisely the hemoglobin abnormality in patients with sickling disorders.

Second or subsequent remission with a disease-free survival of 5 years or longer in acute lymphocytic leukemia of childhood: results of a national survey.

A national survey was conducted to determine the number of children with acute lymphocytic leukemia who have survived 5 years or longer in their second or subsequent remission. Seventy-two such patients were identified. The clinical and laboratory characteristics of these patients as well as their therapy are described. It is concluded that long-term second or subsequent remission may occur more frequently than previously appreciated.

Parental attitudes about confidentiality in a pediatric oncology clinic.

Children and parents who attend pediatric oncology clinics often develop close relationships with other patients and may question clinic staff about another child's disease, therapy, or status. To assess parental attitudes concerning the dissemination of information by the clinic staff, questionnaires were mailed to the parents of all 154 patients who have attended pediatric oncology clinic since 1972. There were 100 (65%) responses including 77 from 99 living (78%) and 23 from 55 deceased patients (42%). Parents were asked whether clinic staff should respond completely to questions from other clinic parents regarding six aspects of their child's cancer. Percentages of parents who favored complete information sharing without their explicit consent about each of the aspects were as follows: diagnosis, 83%; medication/side effects, 85%; laboratory results, 66%; general status, 87%; occurrence of relapse, 77%; development of terminal phase, 67%. Neither the survival status (living v deceased) nor whether the patient was receiving therapy or not affected responses significantly. Benefit from receiving information about other children from clinic staff was reported by 82% of parents.

Evaluation of the capillary microhematocrit as a screening test for anemia in pediatric office practice.

The capillary microhematocrit test is widely used to screen pediatric patients for anemia. Recently, it has been suggested that this method produces spuriously elevated values compared with venous hematocrits measured by a Coulter electronic counter and might consequently fail to detect children who are truly anemic. To address this issue we studied 66 white children 9 months to 14 years of age whose capillary hematocrits were either below, equal to, or one or two points above the lower limit of normal for age. Venous specimens were obtained simultaneously with the capillary sample; hemoglobin, hematocrit, and mean corpuscular volume results were obtained using a Coulter electronic counter. Using published standards of venous hemoglobin, we determined the sensitivity, specificity, and predictive values of the capillary microhematocrit in this population of patients with low or borderline values. Twenty of the 66 patients had venous hemoglobin values less than the lower limit of normal. The sensitivity of the microhematocrit was 90.0%; the specificity was 43.5%. The predictive values for a normal (negative) hematocrit was 90.1%; the predictive value for a low (positive) hematocrit was 40.9%. We conclude that the microhematocrit method using capillary blood will miss very few patients with significantly low venous hemoglobin values and is thus an acceptable screening test for anemia. Because it does not require expensive equipment or special skill to obtain the specimen or perform the test, it is ideal for physicians' offices or nonhospital-based clinics.

Abnormal spleen scan following MOPP therapy in a patient with Hodgkin's disease: case report.

A patient with Stage IV-A nodular sclerosing Hodgkin's disease is described who, at initial presentation, demonstrated an apparent large filling defect in the spleen by 99mTc-sulfur colloid scan. Following a 6-month course of MOPP therapy, the patient was clinically free of disease although the spleen scan remained unchanged. After laparotomy, the spleen was found to be entirely normal histologically.

Giant cell pneumonia associated with parainfluenza virus type 3 infection.

Giant cell pneumonia associated with parainfluenza virus type 3 infection and chronic poliovirus type 2 meningoencephalomyelitis are documented in an infant with combined immunologic deficiency (Swiss type). Caution should be exercised in attributing cases of giant cell pneumonia to measles virus without serologic or virologic evidence.

Traumatic asplenia in adults: a defined hazard?

The problem of postsplenectomy sepsis in adults with traumatic asplenia was reviewed and discussed. Alternatives to splenectomy should be considered when feasible, and pnemococcal vaccination and prophylactic antibiotics are necessary when splenectomy is unavoidable.

Severe acquired vitamin K deficiency: a hypothesis for rapid response to therapy.

The potential mechanism underlying the rapid response to vitamin K replacement in acquired deficiency states is incompletely understood. To examine vitamin K metabolism, a 10-year-old boy with autoimmune enteropathy on oral vitamin K supplementation, who presented with profuse nosebleeds and calf tenderness, was evaluated. Laboratory analyses were consistent with severe vitamin K deficiency: vitamin K dependent protein (VKDP) levels < 5%, normal vitamin K epoxide level and depressed total prothrombin antigen (carboxylated and undercarboxyated forms). Intramuscular vitamin K (10 mg) was administered. Nine hours following therapy, VKDP levels corrected completely. Total prothrombin antigen increased indicating new prothrombin synthesis. However, the increase in the prothrombin-clotting assay far exceeded the increase in total prothrombin, supporting storage of undercarboxylated prothrombin in vitamin K deficiency states, with carboxylation and secretion after vitamin K replacement. Although this mechanism is known to occur in rodents, it has not been reported in humans. Our findings suggest a new potential mechanism of prothrombin metabolism in humans.

Adrenal hemorrhage in the newborn. The phenomenon of "enclosed" hemorrhage as a cause of neonatal jaundice and later adrenal calcifications.

In an infant with unexplained hyperbilirubinemia, abdominal mass and a fall in hematocrit, an IVP with total body opacification should be considered so that the diagnosis of adrenal hemorrhage, which is almost always a benign conditions, may be made. Follow-up abdominal films at 3 months of age may further substantiate the etiology by revealing calcifications in the involved areas.

Splenectomy for trauma in children: risks and alternatives.

The problem of postsplenectomy sepsis in children who have had splenectomy secondary to trauma is reviewed. Alternatives to splenectomy should be considered when appropriate. Pneumococcal vaccination and the use of prophylactic antibiotics are necessary if splenectomy is unavoidable.

Bacterial infection and the asplenic host: a review.

The risk of bacterial sepsis in the surgically or functionally asplenic host is reviewed. The lowest morbidity occurs in patients splenectomized because of trauma to the spleen; the highest morbidity occurs in patients splenectomized for thalassemia. There is approximately a 50% mortality associated with sepsis secondary to asplenia and the pneumococcus is responsible for over 50% of the cases. Normal spleen function and alteration in host defense occurring as a consequence of asplenia is discussed. Finally, alternatives to and indications for splenectomy as well as prophylactic measures are considered. It is concluded that, at the present time, antibiotic coverage for an indefinite period of time may be indicated for surgically or functionally asplenic patients.

Fragile X syndrome and acute lymphoblastic leukemia.

Fragile X [Fra(X)] syndrome is an example of a heritable fragility syndrome associated with mental retardation. It is characterized by a fragile site on the X chromosome at Xq27-28. There have recently been three reports of malignant solid tumors associated with Fra(X) syndrome. We describe the first case of a hematologic malignancy [T-cell acute lymphocytic leukemia (ALL)] in a patient with Fra(X) syndrome. The possibility of a predisposition to malignancy in Fra(X) is discussed.