Biomedical subjects
Publications and source records attributed to F Desposito.
An infant with congenital chondrodysplasia punctata with a secondary deformation of umbilical cord hernia is reported. The paper discusses deformation syndromes as anomalies due to unusual mechanical or intrinsic factors.
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Three children presenting with severe symptomatic bleeding episodes (one child developing a life-threatening subdural hematoma) due to acquired coagulation inhibitors are reported. In two patients, there was a history of an antecedent viral syndrome. None had evidence of drug exposure or an underlying immune disorder. All responded to the administration of corticosteroids, although one patient was steroid-dependent and required immunosuppressive therapy to achieve a complete response. Laboratory characteristics did not clearly distinguish the type of circulating inhibitor present in these children. Since bleeding was a prominent feature, we suggest that the inhibitors noted represent multiple specific coagulation factor inhibitors, rather than a "lupus-like" inhibitor which represents a common antibody to phospholipid-dependent coagulation tests. Such inhibitors may not be as benign as the common lupus anticoagulant seen in adult patients and should be considered in the child with symptomatic bleeding and a prolonged partial thromboplastin time. The true incidence and exact mechanism of action of acquired inhibitors in children has not been established.
Approximately 1 of 500 individuals is a carrier of a balanced chromosome translocation. Since many translocations are inherited, many (but not all) relatives of carriers have a need to be informed of their potential carrier status. Presently, no data are available as to what extent individuals identified as balanced carriers inform at-risk relatives of the problem. We interviewed 12 balanced translocation carriers to learn whether such information had been transmitted to relatives. The 12 propositi had 36 surviving sibs and 21 surviving parents. Of the 36 sibs, 32 were informed of their risk. The four sibs not informed were from two families. Only 16 of the 32 informed sibs had subsequent carrier testing. Of the 21 surviving parents, 14 were told by their children of their carrier status; subsequently, three parent couples were tested. This survey provides data showing that individuals do not always disclose genetic risk information to relatives. Therefore, genetic professionals need to determine if they have a duty to transmit such information to at-risk relatives in light of the harm that may occur when information is withheld.
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A newborn male was diagnosed as having a duplication of distal 9p material by GTG banding analysis. Gene dose studies for galactose-1-phosphate uridyl transferase (GALT) were performed on the patient, his mother (the balanced translocation carrier), a 3-year-old 47,XY + 9p male control, a 30-year-old woman with mosaic trisomy 9p, a newborn female control infant with complete trisomy 9, and age-matched chromosomally normal control individuals. The findings support previous evidence that the GALT locus is at band p13 of chromosome 9.
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The present epidemic of acquired immune deficiency syndrome (AIDS) was originally described in homosexual men and subsequently in intravenous drug abusers, Haitians, and hemophiliacs. Profound defects in cell-mediated immunity (CMI) are associated with Kaposi's sarcoma and a variety of serious opportunistic infections. Recently, we and others have encountered a group of children with an otherwise unexplained immune deficiency syndrome and infections of the type found in adults with AIDS. In this report, we describe eight children from the Newark, NJ, metropolitan area born into families with recognized risks for AIDS. These patients have had recurrent febrile illnesses, failure to thrive, hypergammaglobulinemia, and depressed CMI. Four of these children have died. Our experience suggests that children living in high-risk households are susceptible to AIDS and that sexual contact, drug abuse, or exposure to blood products is not necessary for disease transmission.
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A girl with clinical and laboratory findings of severe Von Willebrand's disease (VWD) characterized by a prolonged bleeding time, marked reduction of both Factor VIII procoagulant activity and Factor VIII related antigen with an abnormal crossed immunoelectrophoretic factor VIII molecule (CIEP) is presented. Persistent thrombocytopenia and abnormal platelet function manifested during platelet aggregation with epinephrine, ADP and collagen and abnormal C14 serotonin and platelet factor 4 release were also noted. Family studies reveal both parents and a paternal aunt with low normal VWD parameters and normal immunoelectrophoretic factor VIII molecules. A sister has mild classical VWD. Both the father and paternal aunt have normal platelet counts but manifest a similar platelet functional defect. These findings suggest that our patient is homozygous for VWD and has inherited the platelet functional defect through the paternal side of the family. The addition of CIEP techniques may allow for further genetic clarification of the Von Willebrand syndromes; specifically, delineating the severe, homozygous Von Willebrand patient from the more common classical heterozygous patient and from the heterogeneous group of VWD patients with structural defects of the VWD factor. The genetic implications and the interaction of thrombocytopenia and abnormal platelet function in VWD are discussed.
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A patient with ataxia telangiectasia presenting with a severe recurrent bleeding diathesis characterized by a prolonged bleeding time, normal platelet counts and clot retraction, absent platelet aggregation, and normal platelet factor 3 availability is described. These findings are indicative of a thrombasthenic-like pattern associated with multiple membrane receptor site defects. Chromosomal studies revealed a 14/14 tandem translocation involving chromosomal band 14q32 in peripheral T-lymphocytes; this chromosomal marker was not found in peripheral B-lymphocytes, direct bone marrow preparations, or skin fibroblasts. We postulate that the platelet functional defect demonstrated in this patient occurred in a clone of abnormal platelet stem cells possibly containing the chromosomal marker. This defect could be analogous to the situation in chronic myelogenous leukemia in which similar platelet functional disorders have been noted and in which the marker Philadelphia chromosome has been present on megakaryocytes. Our patient would also appear to be at high risk for the development of a T-cell malignancy.
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