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Biomedical subjects

G C Chan

Publications and source records attributed to G C Chan.

At least 19 recordsLinked to original sources

Complex cytogenetic abnormalities in T-lymphoblastic lymphoma: resolution by spectral karyotyping.

We describe a case of T-lymphoblastic lymphoma (T-LBL) in a 13-year-old boy in which conventional cytogenetic analysis of lymph node tissue showed complex karyotypic aberrations including add(1p), add(2q), and multiple chromosomal deletions involving 5q, 7p, 7q, 13q, and 16q. Analysis by spectral karyotyping (SKY) refined add(1p) to a paracentric inversion of 1p, and add(2q) to an unbalanced translocation between chromosomes 2 and 4. The chromosomal deletions were simple deletions except del(5q), which was confirmed by SKY to be a cryptic unbalanced translocation between chromosomes 5 and 18. The present report illustrates that SKY technology is useful in identifying subtle translocations and resolving complex karyotypic aberrations in neoplastic disorders.

Adolescent↗

Cytotoxic chemotherapy has minimal direct effect on gastric myoelectric activity in children with 5HT(3) antagonist prophylaxis.

BACKGROUND: Cancer patients receiving cytotoxic chemotherapy frequently develop nausea and vomiting. The direct effect of chemotherapy on gastric pacemaker is not clear. The objective of this study was to assess the direct interference of gastric electrical activity by chemotherapeutic agents as a possible cause of vomiting using electrogastrography (EGG). PROCEDURE: Fasting surface EGGs were recorded in 24 children with malignancy and 24 age-matched controls. All oncology patients received the intravenous prophylatic ondansetron. According to the known emetic potential of the medications they received, the children were divided into mild, moderate, and severe groups. The EGG recordings of oncology patients were segmented into prechemotherapy period, chemotherapy period, and emetic period. The EGG data from each period were collected and analyzed (paired t-test and Mann-Whitney U test). RESULTS: There were 24 children (M:F ratio: 14:10), with a mean age of 9.6 years. Eight children vomited during the course of recording (0/3 from the mild group, 2/6 from the moderate group, and 6/15 from the severe group). The average duration of intravenous medication infusion was 7.8 hr (range 2 min to 24 hr). There was no difference between the EGG of normal control and the prechemotherapy EGG of the oncology patients. No difference was detected between the EGG data from the prechemotherapy period and the chemotherapy period. A statistically significant increase in tachygastria was detected in emetic periods (28 episodes, mean duration 5 min; P = 0.01). CONCLUSIONS: Insignificant EGG changes during chemotherapy suggest that chemotherapy has a minimal direct effect on gastric pacemaker. Tachygastria seemed to be a secondary effect of vomiting rather than the cause of it. These preliminary findings suggest that efforts to modify gastric electrical rhythm as a means of management of chemotherapy-induced vomiting may be futile. Further studies to identify factors responsible for vomiting are warranted.

Adolescent↗

Analysis of MLL-derived transcripts in infant acute monocytic leukemia with a complex translocation (1;11;4)(q21;q23;p16).

It has been proposed, on the basis of cytogenetic studies and molecular analysis of MLL-derived transcripts in acute leukemia with 11q23 rearrangement, that only one fusion gene transcript present on the der(11) chromosome is critical for leukemogenesis. This view is challenged by a recent observation in a case of leukemia with a complex translocation that results in MLL being fused in-frame to two different partner genes. We investigated a case of infant monocytic leukemia with a complex translocation, (1;11;4)(q21;q23;p16). Molecular studies revealed MLL rearrangement by both fluorescence in situ hybridization and Southern blot analysis, and MLL/AF1q, but not the reciprocal message (i.e., AF1q/MLL), was amplified by polymerase chain reaction. Sequence analysis of MLL/AF1q revealed an in-frame fusion between MLL exon 6 and the breakpoint located six bases upstream of the ATG start site for AF1q. Our data suggest that only one form of MLL fusion gene is implicated in leukemogenesis in our case to t(1;11;4).

Base Sequence↗

Cytogenetic characterization of childhood hepatoblastoma.

We describe the cytogenetic abnormalities in two cases of childhood hepatoblastoma. The first case was of fetal histology with squamous metaplasia, and cytogenetic study showed an add(5)(q31). Although an association between hepatoblastoma and familial adenomatous polyposis is recognized, the breakpoint in this case is distal to 5q21 and most probably does not involve the APC gene at that location. The second case was of macrotrabecular histology, and cytogenetic study showed an unbalanced translocation in the form of der(4)t(1;4)(q12;q34) in a hyperdiploid clone. Including our case, der(4)t(1;4)(q12;q34) has been recognized in four cases of hepatoblastoma, and it may be the first recurrent translocation in this tumor. Understanding the molecular mechanism and clinical significance of this translocation awaits analysis of more cases.

Child, Preschool↗

Metanephric adenofibroma: report of a case and review of the literature.

The recent recognition of a variety of pediatric renal tumors of different biologic behavior places an ever-increasing demand on the surgical pathologist for an accurate diagnosis. Although metanephric adenofibroma is one of the rarest benign renal tumors, the clinical importance of correctly diagnosing it cannot be overemphasized because it can potentially be mistaken as Wilms' tumor. We describe the clinical, radiologic, and pathologic features of a case of metanephric adenofibroma and discuss its differential diagnosis. The neoplasm was composed of two discrete components: a major fibroblastic element and a minor immature epithelial element. The latter formed a small nodule beneath the renal capsule, which could barely be detected by magnetic resonance imaging. This subcapsular nodule, however, was slightly soft and tan and was distinctly different from the white, whorled cut surface of the main tumor. It was formed by closely packed small immature epithelial cells in a slightly edematous background, which was histologically identical to metanephric adenoma and closely resembled epithelial Wilms' tumor. Unlike Wilms' tumor, however, the epithelial cells were very bland with no mitoses. The main bulk of the tumor was formed by spindle fibroblastic cells that were cytologically similar to the spindle cells in congenital mesoblastic nephroma. The tumor, however, was well demarcated without the irregular infiltrating edges of congenital mesoblastic nephroma. In contrast to the randomly distributed epithelial element throughout the stromal component in previous reported cases of metanephric adenofibroma, our finding of the exceedingly small and discrete epithelial component expands the known histologic spectrum of the disease. In addition, the presence of such minute epithelial nodule underscores the importance of diligent pathologic examination and careful sampling of tissue for histologic examination.

Adenofibroma↗

Hippocampal neurotoxicity of Delta9-tetrahydrocannabinol.

Marijuana consumption elicits diverse physiological and psychological effects in humans, including memory loss. Here we report that Delta9-tetrahydrocannabinol (THC), the major psychoactive component of marijuana, is toxic for hippocampal neurons. Treatment of cultured neurons or hippocampal slices with THC caused shrinkage of neuronal cell bodies and nuclei as well as genomic DNA strand breaks, hallmarks of neuronal apoptosis. Neuron death induced by THC was inhibited by nonsteroidal anti-inflammatory drugs, including indomethacin and aspirin, as well as vitamin E and other antioxidants. Furthermore, treatment of neurons with THC stimulated a significant increase in the release of arachidonic acid. We hypothesize that THC neurotoxicity is attributable to activation of the prostanoid synthesis pathway and generation of free radicals by cyclooxygenase. These data suggest that some of the memory deficits caused by cannabinoids may be caused by THC neurotoxicity.

Adenylyl Cyclase Inhibitors↗

Phosphorylation and inhibition of olfactory adenylyl cyclase by CaM kinase II in Neurons: a mechanism for attenuation of olfactory signals.

Acute desensitization of olfactory signaling is a critical property of the olfactory system that allows animals to detect and respond to odorants. Correspondingly, an important feature of odorant-stimulated cAMP increases is their transient nature, a phenomenon that may be attributable to the unique regulatory properties of the olfactory adenylyl cyclase (AC3). AC3 is stimulated by receptor activation and inhibited by Ca2+ through Ca2+/calmodulin kinase II (CaMKII) phosphorylation at Ser-1076. Since odorant-stimulated cAMP increases are accompanied by elevated intracellular Ca2+, CaMKII inhibition of AC3 may contribute to termination of olfactory signaling. To test this hypothesis, we generated a polyclonal antibody specific for AC3 phosphorylated at Ser-1076. A brief exposure of mouse olfactory cilia or primary olfactory neurons to odorants stimulated phosphorylation of AC3 at Ser-1076. This phosphorylation was blocked by inhibitors of CaMKII, which also ablated cAMP decreases associated with odorant-stimulated cAMP transients. These data define a novel mechanism for termination of olfactory signaling that may be important in olfactory responses.

Adenylyl Cyclase Inhibitors↗

Primary human herpes virus 6 infection transmitted from donor to recipient through bone marrow infusion.

An 8.5-month-old boy with Wiskott-Aldrich syndrome received a sibling matched bone marrow transplant from his healthy non-identical twin brother. The donor had primary human herpes virus 6 (HHV-6) infection around the time of bone marrow donation. The recipient had hepatitis in the first week and then developed fever and rash on day 18. Skin biopsy was shown to have HHV-6 antigen and his peripheral blood leukocytes were HHV-6 DNA positive. He engrafted on day 18 but the ANC dropped from 5.5 x 10(9)/l (day 23) to 0.48 x 10(9)/l (day 34) with persistent HHV-6 DNAemia. Bone marrow on day 35 was positive for HHV-6 DNA. He was treated with G-CSF and ganciclovir with good response. He later had pneumonitis which was treated empirically with foscarnet, ceftazidime and clarithromycin.

Bone Marrow Transplantation↗

Near-haploid common acute lymphoblastic leukaemia of childhood with a second hyperdiploid line: a DNA ploidy and fluorescence in-situ hybridization study.

Near-haploidy is a rare cytogenetic finding in childhood acute lymphoblastic leukaemia (ALL) and is associated with a poor prognosis. A second hyperdiploid line, occurring presumably by endoreduplication of the near-haploid stemline, is often observed. We present a case of common ALL in relapse characterized morphologically by a dual population of small and large lymphoblasts. Cytogenetic analysis supplemented with fluorescence in-situ hybridization (FISH) studies localized near-haploidy and hyperdiploidy to the small and large blast population respectively. DNA ploidy determination confirmed two abnormal clones with near-haploidy as the predominant one. A novel t(9;12)(q11;q13) was present in the near-haploid clone and was duplicated in the hyperdiploid clone. This finding identified cells bearing near-haploidy to be the clonogenic population following malignant transformation and confirmed endoreduplication as the mechanism for the presence of associated hyperdiploidy.

Child↗

Transient erythroblastopenia of childhood associated with transient neurologic deficit: report of a case and review of the literature.

OBJECTIVE: Patients with transient erythroblastopenia of childhood (TEC) may also have a transient neurologic disorder. We present a case history and propose a mechanism for this syndrome. PATIENT AND METHODOLOGY: We describe a 20-month-old girl with TEC and transient hemiparesis. Records from the period January 1993 through December 1994 were reviewed to identify other patients with TEC and to determine whether neurologic deficits were noted in these cases. RESULTS: Of seven patients diagnosed with TEC over a 2-year period, only one had a neurologic deficit. This child's hemiparesis resolved within 24 h after the appearance of her symptoms. Her TEC resolved within 4 weeks, without long-term sequelae. Our experience and review of the literature suggest that focal neurologic deficits in TEC patients are uncommon, transient, lack long-term sequelae, and usually resolve prior to hematologic recovery. CONCLUSIONS: Previous reports suggested that the anaemia resulting from TEC might induce neurologic deficits. We suggest an alternative mechanism in which viral infection triggers a host immune response that independently leads to both TEC and neurologic abnormalities. Future studies should address the role of viral infection in TEC patients with focal neuropathies.

Diagnosis, Differential↗

End tidal carbon monoxide concentration in childhood haemolytic disorders.

OBJECTIVES: Endogenous carbon monoxide (CO) is produced mainly by heme catabolism. As CO is excreted solely by the lung, a simple technique for measuring the end tidal carbon monoxide (ETCO) level was assessed as a method for screening for haemolytic disease in children. METHODS: Two end expiratory breath samples were collected from normal children and from children with haemolytic disease using a one way valve connector between a mouth piece and an anaesthetic bag. The samples were analysed by gas chromatography for CO and carbon for dioxide (CO2). The CO2 value was used to normalise the CO value to an alveolar concentration. Carboxyhaemoglobin (HbCO) also was measured in the patient group for correlation analysis with ETCO. RESULTS: A total of 21 children with beta thalassaemia major, 15 children with other haemolytic diseases (hereditary spherocytosis n=8, haemoglobin H disease n=3 and thalassaemia intermedia n=4) and 23 normal children were studied. The mean ETCO concentrations in the three groups were 3.21 p.p.m., 7.41 p.p.m. and 0.69 p.p.m., respectively, which were significantly different from each other (P<0.0001). There was a significant correlation between ETCO and HbCO in the patient groups (r=0.85; P<0.0001). CONCLUSIONS: The end expiratory breath collection device is a simple and feasible sample collection method. The results confirm that ETCO can be used clinically to distinguish children with a variety of haemolytic disorders from normal subjects.

Adolescent↗

Clinical presentation, hematologic features and treatment outcome of childhood acute lymphoblastic leukemia: a review of 73 cases in Hong Kong.

Seventy-three consecutive cases of childhood acute lymphoblastic leukemia (ALL) diagnosed and managed in Queen Mary Hospital over a 10-year period from 1985 to 1994 were retrospectively analysed for their presenting features and treatment outcome. The 48 boys and 25 girls ranged in age from 0.4 to 14.2 years (median: 4.3 years). Bone and joint pain was a relatively common presenting feature besides fever, hepatosplenomegaly and lymphadenopathy. Immunophenotyping of blast cells showed: 51 B-cell precursor ALL, one B-ALL, 10 T-ALL and three myeloid-antigen positive ALL. Eight cases were unclassified since immunophenotyping had not been performed. Out of the 73 patients, treatment outcome was analysed in 20 cases treated with UKALL-VIII regimen and 28 cases treated with either the UKALL-XI regimen or the Hong Kong Children Cancer Study Group (HKCCSG) protocol which was modelled upon UKALL-XI. Although complete remission rates were similar between the two groups, patients treated with the former regimen that was less intensified suffered more relapses than the latter (56 per cent versus 21 per cent, P = 0.04). There were, however, no significant differences both in event-free survival (38.2 +/- 11.2 per cent versus 71.3 +/- 9.3 per cent, P = 0.12) and overall survival (70.0 +/- 10.2 per cent versus 79.6 +/- 8.3 per cent, P = 0.41) between the two groups at 3 years by long-rank test. With the use of risk-directed therapy and improved supportive care, two-thirds of our patients are able to enjoy long-term event-free survival.

Adolescent↗

Infection complicating percutaneous liver biopsy in liver transplant recipients.

There is controversy about the frequency of and risk factors for infectious complications of percutaneous liver biopsy in liver transplant recipients. The aim of this study was to identify the incidence and nature of complications associated with liver biopsy after orthotopic liver transplantation (OLT), with particular emphasis on infection. The medical records of all patients undergoing OLT between January 1990 and August 1994 were reviewed retrospectively to identify complications requiring hospitalization within one week of percutaneous liver biopsy. The nature and severity of complications were recorded and possible risk factors for infectious complications were examined. One hundred ninety-eight patients underwent 1,136 percutaneous liver biopsies. There were eleven complications (0.96%), including as follows: 7 infections, 3 bleeding episodes, and 1 vasovagal reaction. Infections after percutaneous liver biopsy included fever and bacteremia (n = 6), and fever without bacteremia (n = 1). All infections developed only in patients with underlying biliary tract abnormalities; the frequency of infection was higher (9.8%) in patients with choledochojejunostomy when compared with those with choledochocholedochostomy (1.4%). Bacteremia was more likely caused by skin flora in patients with choledochocholedochostomy (CDC) and by enteric bacteria in patients with choledochojejunostomy (CDJ). All infections were treated successfully with parenteral antibiotics. We conclude that biliary tract abnormalities are the primary risk factors for infection after percutaneous liver biopsy, although the risk is higher in patients with CDJ than with CDC. These data support the use of antibiotic prophylaxis before percutaneous liver biopsy in OLT recipients with biliary tract abnormalities.

Anastomosis, Roux-en-Y↗

Cytogenetic abnormalities in pediatric myelodysplastic syndrome: a report of three cases.

Three consecutive cases of pediatric myelodysplastic syndrome (MDS) diagnosed over a three-year period in Queen Mary Hospital, Hong Kong, were described. Depending on the classification system used, they comprised two cases of chronic myelomonocytic leukemia (CMMoL) of which one can be reclassified as juvenile chronic myeloid leukemia (JCML) and one cases of refractory anemia with excess of blasts (RAEB) or an alternative diagnosis of atypical CML. Cytogenetic abnormalities were detected in all of them on examination of bone marrow cells. Of the two CMMoL, one had monosomy 21, whereas the other had hypodiploidy. The patient with RAEB had a complex karyotype of 46,X,del(X)(q24),t(1;7) (p22;q32),add(15)(q26)(8). The balanced translocation (1;7) seen in this patient was exceedingly rare and, to the best of our knowledge, was reported only twice in the literature. The karyotypic abnormalities that we saw in our patients were not well recognized in pediatric MDS. This report emphasizes the importance of cytogenetic study in children suspected of suffering from MDS, which remains a rare disorder of childhood, and a need to rationalize current classification schemes.

Child↗