Back pain and collapse associated with receding subarachnoid blockade.

PURPOSE: Back pain and sudden loss of consciousness during recovery from spinal anesthesia are rare. Severe pain may raise fears of serious neurological damage and result in inappropriate management. Bladder distention may present in this way and clinicians should be alert to this possibility and communicate this to nursing staff. CLINICAL FEATURES: A lumbar spinal anesthetic was performed during a volunteer study, using 15 mg hyperbaric bupivacaine in a healthy 31 yr old man. During recovery, five hours later, as the block regressed to the L1-2 level, he complained of acute, severe back pain and briefly lost consciousness secondary to profound bradycardia. Bladder cathetherization yielded 900 mL urine with immediate and complete relief of symptoms. CONCLUSION: Severe pain secondary to bladder overdistention in the presence of neuroaxial blockade may be referred to the thoracolumbar area, mediated by intact sympathetic afferents. As the saccral parasympathetic supply remains paralyzed, there is no subjective sensation of bladder stretching. If untreated, bladder distention can lead to excessive supraspinal parasympathetic outflow resulting in vasovagal syncope.

Detection of immunoglobulin gene rearrangement in acute and chronic lymphoid leukemias of B-cell lineage by polymerase chain reaction gene amplification.

Polymerase chain reaction (PCR) was used to amplify the DNA fragments of the complementarity determining region 3 of the immunoglobulin (Ig) gene heavy chain from the leukemic cell specimens of patients with acute and chronic lymphoid leukemias of B-cell lineage. Two different pairs of primers were tested. Fourteen of the 17 (82%) cases of acute lymphoblastic leukemia (ALL), and all 15 cases (100%) of B-cell chronic lymphocytic leukemia, who had rearrangement of the Ig gene heavy chain by Southern analysis, were positive by PCR with either one or both pairs of primers. This technique was able to detect leukemic cells at the level of 0.1%. Applying it to study the remission marrow specimens following induction chemotherapy was more useful than morphology alone in predicting early relapse of the leukemia.

Molecular defects in haemophilia B: detection by direct restriction enzyme analysis.

The common restriction fragment length polymorphisms (RFLPs) associated with the FIX gene: 5' BamH I, Dde I, BamH I (2), Taq I and 3' Hha I were absent or of low incidence in Southern Chinese and are therefore not useful for linkage analysis. No deletion was detected amongst seven consecutive unrelated haemophilia B patients, but one had an insertion of a 15 kb Pvu II fragment containing exon d. Using an alternate strategy of polymerase chain reaction (PCR) amplification and direct sequencing, the molecular defect in the other six patients was defined. The four novel mutations characterized were: nucleotide (nt) 6410 G----C (Gly12----Ala); nt 31261 delta T (stop codon 31 bp downstream); nt 31260 C----G (Thr380----Ser) and nt 31122 C----A (Ala34----Asp). Two patients had the same mutation at nt 6365, G----A (Arg-4----Gln), identical to one previously described in other ethnic groups, suggesting that this is a hotspot for mutation. Each of the mutations was found to affect an enzyme recognition site and could thus be identified by direct visualization of abnormal restriction fragments in amplified genomic DNA. This allows rapid and accurate DNA diagnosis of haemophilia B in an ethnic group which otherwise shows little or no polymorphism for the common RFLP sites.

Rearrangement of immunoglobulin and T cell receptor genes in acute and chronic leukaemias.

The pattern of immunoglobulin (Ig) and T cell receptor (TCR) gene rearrangements was determined in 87 patients with acute and chronic leukaemias and myelodysplastic syndromes by Southern blot hybridisation. All 31 cases of common, B cell and null cell acute lymphoblastic leukaemia, and B cell chronic lymphocytic leukaemia showed Ig heavy chain (JH) rearrangement, and TCR (beta-chain) rearrangement was seen in all 5 cases of T cell acute lymphoblastic leukaemia. Inappropriate JH and TCR (beta) rearrangements were present in some cases of T-ALL (60%) and common acute lymphoblastic leukaemia (18%), respectively. For the 19 patients with acute leukaemias following chronic myeloid leukaemia, blastic transformation, all 4 with lymphoid transformation and 3 of the 15 with myeloid transformation had JH rearrangement, and 3 CD10-positive lymphoid transformation and 2 myeloid transformation had their TCR (beta) genes rearranged. In conclusion, the pattern of Ig and TCR gene rearrangements correlated well with the cell lineage. However, cross-lineage rearrangements were more commonly seen in patients with acute leukaemias following chronic myeloid leukaemia blastic transformation, as compared to the de novo cases.

Immunoglobulin gene rearrangement in the peripheral blood and bone marrow of patients with lymphomas of the mucosa-associated lymphoid tissues.

The theory of 'homing' mechanism has been proposed to explain the association of malignant lymphoma involving multiple sites of mucosa-associated lymphoid tissue (MALT). DNA rearrangement in the peripheral blood and bone marrow specimens of 20 patients with MALT lymphoma were studied utilizing JH and C beta gene probes, aiming to detect circulating lymphoma cells and unrecognized bone marrow involvement. Our search for malignant cells in the peripheral blood was unrewarding and the 'homing' theory remained unproven. However, the study of DNA rearrangement showed to be useful in determining the malignant nature of abnormal lymphoid aggregates found in the bone marrow of these patients.

Different forms of Hb H disease in the Chinese.

A marked genetic and clinical variability of the Hb H syndrome occurs because of the molecular heterogeneity of alpha-thalassemia (thal). The hallmark is the presence of excess beta chains forming Hb H (beta tetramer). In the Chinese, classical Hb H disease presents as "alpha-thalassemia intermedia" and is due to a double heterozygosity for two deletional forms of alpha-thal, alpha-thal-1 and alpha-thal-2. The majority of cases with an alpha-thal-1 defect have a deletion of at least 18.1 kb starting 3' to the zeta 1 gene which includes the psi alpha and the two alpha genes; it is similar to that described in Thais. However, two families had a deletion of the entire zeta-alpha gene cluster, i.e. zeta-alpha-thal-1. Of 33 alpha-thal-2 defects studied, 26 were the rightward deletion (alpha -3.7 kb, all type I defects) and seven the leftward deletion (alpha -4.2 kb); one of the latter was associated with Hb Q. About 10% of the alpha-thal defects belong to the nondeletion type, the most common form being Hb Constant Spring (CS). This anomaly, when coinherited with alpha-thal-1, produces Hb H-CS disease which has a most marked anemia and splenomegaly due to the instability of the alpha-CS chain. Hb Quong Sze produces an alpha-thal-2 because of the unstable alpha-Quong Sze chain. One patient who inherited classical Hb H disease and Hb New York (NY) [alpha 113(G15)Val----Glu] had severe anemia, and required frequent blood transfusions due to the deleterious effect of an increased alpha-NY chain turnover.(ABSTRACT TRUNCATED AT 250 WORDS)