PBSC collection following 67Ga infusion for a nuclear medicine study.
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Adolescent↗
Biomedical subjects
J B Gorlin
Publications and source records attributed to J B Gorlin.
Nonrandom inactivation of the X chromosome in early lineage hematopoietic cells in carriers of Wiskott-Aldrich syndrome.
The Wiskott-Aldrich syndrome (WAS) is an X-linked (Xp11.22) recessive immunodeficiency syndrome characterized by susceptibility to opportunistic and pyogenic infections, thrombocytopenia, and eczema. Previous studies of obligate carriers of WAS documented that nonrandom inactivation of the X chromosome carrying the defective gene is observed in all peripheral blood cells. The existence of both abnormal platelets and lymphocytes is consistent with a defect that affects early hematopoietic precursors. We isolated CD34+ hematopoietic progenitor cells collected from obligate carriers of WAS by apheresis and used polymerase chain reaction analysis of a polymorphic variable number of repeats (VNTR) within the X-linked androgen receptor to document nonrandom inactivation. These data show that nonrandom inactivation of the X-chromosome in WAS-obligate carriers occurs early during hematopoietic differentiation.
Antigens, CD↗
Hemolytic disease of the newborn due to the Scianna antibody, anti-Sc2.
BACKGROUND: Alloantibodies to the low-frequency antigen Scianna 2 (Sc2) are uncommon and not previously reported to cause immune hemolysis. CASE REPORT: A group B, Rh-negative infant born to a group B, Rh-positive mother had a 2+ direct antiglobulin test, as well as modest hyperbilirubinemia and a hematocrit of 45 percent. Ongoing immune hemolysis led to a hematocrit of 17.3 percent on Day 20 of life, and the infant required hospitalization and red cell transfusions. The routine maternal antibody screen was negative, but anti-Sc2 was detected during work-up for a low-frequency red cell antigen, and the father's red cells typed as Sc:1,2. CONCLUSION: Anti-Sc2 can cause clinically significant hemolytic disease of the newborn. Although the antibody is uncommon, its frequency and hemolytic potential may be underappreciated, in part because investigations often are not carried out in the infant whose red cells are ABO-incompatible with maternal blood.
Adult↗
Acquired arteriovenous fistulas in children.
Five boys with acquired arteriovenous fistulas are presented; four had factor VIII deficiencies, and one had a hepatic-induced coagulopathy. The cause of the fistula was the trauma induced by single or repeated venous and/or arterial punctures. All five developed a slowly progressive pulsatile mass of over a period of months. Patients with coagulopathies all developed complications with repeated inadvertent puncture of these masses. Clinical examination and magnetic resonance imaging scans clearly highlight this problem. Surgical ligation is recommended for progressive enlargement.
Arteriovenous Fistula↗
Alloimmunisation via previous transfusion places female Kpb-negative recipients at risk for having children with clinically significant hemolytic disease of the newborn.
We report a case of clinically significant hemolytic disease of the newborn due to Kpb alloimmunisation requiring obstetric intervention. This case and a review of the literature are in contrast to reviews of hemolytic disease of the newborn that either ascribe no significance to the Kpb antigen or suggest that it causes only rare or mild disease. Analysis of our Kpb-negative donor pool suggests that prior transfusion greatly increases the chance of alloimmunisation. The role of frozen rare donor registry cells as a public resource is emphasised.
Adult↗
Actin-binding protein (ABP-280) filamin gene (FLN) maps telomeric to the color vision locus (R/GCP) and centromeric to G6PD in Xq28.
Actin-binding protein-280 (ABP-280) is a dimeric actin filament crosslinking protein that promotes orthogonal branching of actin filaments and links actin filaments to membrane glycoproteins. We have mapped the ABP-280 filamin gene (FLN) to Xq28 by Southern blot analysis of somatic cell hybrid lines, by fluorescence in situ hybridization, and through identification of portions of the FLN gene within cosmids and YACs mapped to Xq28. The FLN gene is found within a 200-kb region centromeric to the G6PD locus and telomeric to DSX52 and the color vision locus.
Blotting, Southern↗
Actin-binding protein requirement for cortical stability and efficient locomotion.
Three unrelated tumor cell lines derived from human malignant melanomas lack actin-binding protein (ABP), which cross-links actin filaments in vitro and connects these filaments to plasma membrane glycoproteins. The ABP-deficient cells have impaired locomotion and display circumferential blebbing of the plasma membrane. Expression of ABP in one of the lines after transfection restored translocational motility and reduced membrane blebbing. These findings establish that ABP functions to stabilize cortical actin in vivo and is required for efficient cell locomotion.
Actins↗
Human endothelial actin-binding protein (ABP-280, nonmuscle filamin): a molecular leaf spring.
Actin-binding protein (ABP-280, nonmuscle filamin) is a ubiquitous dimeric actin cross-linking phosphoprotein of peripheral cytoplasm, where it promotes orthogonal branching of actin filaments and links actin filaments to membrane glycoproteins. The complete nucleotide sequence of human endothelial cell ABP cDNA predicts a polypeptide subunit chain of 2,647 amino acids, corresponding to 280 kD, also the mass derived from physical measurements of the native protein. The actin-binding domain is near the amino-terminus of the subunit where the amino acid sequence is similar to other actin filament binding proteins, including alpha-actinin, beta-spectrin, dystrophin, and Dictyostelium abp-120. The remaining 90% of the sequence comprises 24 repeats, each approximately 96 residues long, predicted to have stretches of beta-sheet secondary structure interspersed with turns. The first 15 repeats may have substantial intrachain hydrophobic interactions and overlap in a staggered fashion to yield a backbone with mechanical resilience. Sequence insertions immediately before repeats 16 and 24 predict two hinges in the molecule near points where rotary-shadowed molecules appear to swivel in electron micrographs. Both putative hinge regions are susceptible to cleavage by proteases and the second also contains the site that binds the platelet glycoprotein Ib/IX complex. Phosphorylation consensus sequences are also located in the hinges or near them. Degeneracy within every even-numbered repeat between 16 and 24 and the insertion before repeat 24 may convert interactions within chains to interactions between chains to account for dimer formation within a domain of 7 kD at the carboxy-terminus. The structure of ABP dimers resembles a leaf spring. Interchain interactions hold the leaves firmly together at one end, whereas intrachain hydrophobic bonds reinforce the arms of the spring where the leaves diverge, making it sufficiently stiff to promote high-angle branching of actin filaments. The large size of the leaves, their interruption by two hinges and flexible actin-binding site, facilitate cross-linking of widely dispersed actin filaments.
Amino Acid Sequence↗
Thyroid cancer in childhood.
The incidence, clinical presentation, and types of thyroid cancers presenting in childhood are reviewed. The role of antecedent radiation in papillary and follicular thyroid cancers and genetics of medullary thyroid carcinoma are discussed. Unique aspects of therapy and prognosis for the pediatric patient with thyroid carcinoma are addressed as well as a diagnostic approach to the child who presents with a neck mass.
Adenocarcinoma↗
Developmental anomalies of the jaws.
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Alveolar Process↗
Identification of (CA/GT)n polymorphisms within the X-linked chronic granulomatous disease (X-CGD) gene: utility for prenatal diagnosis.
PURPOSE: The majority of known female carriers of X-linked chronic granulomatous disease (X-CGD), a deficiency of the gp91-phox (phagocyte oxidase) subunit and the most common genetic subtype of CGD, are not informative for the linked restriction fragment length polymorphisms (RFLPs) described to date. The isolation and characterization of two polymorphic (CA/GT)n repeats that lie within the X-CGD gene are reported, which are a useful linked marker for prenatal diagnosis. PATIENTS AND METHODS: cDNA for gp91-phox was used to probe a genomic library. Genomic clones were isolated and screened for (CA/GT)n repeats. The repeats were isolated and sequences surrounding the repeats were determined. Oligonucleotide primer pairs surrounding the repeats were chosen to facilitate polymerase chain reaction (PCR) across the repeat. RESULTS: Analysis of DNA derived from over 100 individuals shows both markers to be highly polymorphic with a resultant high proportion of heterozygosity in females. Several kindreds affected by X-CGD were studied and the (CA/GT)n length polymorphisms were shown to segregate with the clinical syndrome or biochemical carrier status. The technique was prospectively applied to several kindreds containing a carrier mother and an affected child. In a case where a male fetus was shown to carry the unaffected allele, the pregnancy was carried to term and the child was not affected. CONCLUSIONS: This approach is highly informative in a multiple allele system, can provide a technical analysis in just hours, requires only a ng of DNA, and permits the transport of diagnostic samples. Therefore, this method can be used early in pregnancy on a chorionic villus biopsy sample for prenatal diagnosis.
Alleles↗