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Biomedical subjects

C W Chow

Publications and source records attributed to C W Chow.

At least 91 records · Page 5Linked to original sources
PubMed1996

Disrupted growth plates and progressive deformities in osteogenesis imperfecta as a result of the substitution of glycine 585 by valine in the alpha 2 (I) chain of type I collagen.

The skeleton of a child with osteogenesis imperfecta type III, resulting from the substitution of glycine 586 by valine in the triple helical domain of the alpha 2 (I) chain of type I collagen, was severely porotic but contained lamellar bone and Haversian systems. From early childhood, structural failure of the bone resulted in the disruption of growth plates, progressive bone deformities, and severe growth retardation.

Adolescent↗
PubMed1995

Multiple initiators and C/EBP binding sites are involved in transcription from the TATA-less rat XDH/XO basal promoter.

In the present study, we have explored further the organization of the TATA-less rat xanthine dehydrogenase/oxidase gene (XDH/XO). A DNase I hypersensitive site has been identified which it colocalizes with the basal promoter reported previously [Chow et al. (1994) Nucleic Acids Res., 22, 1846-1854]. Gel mobility shift assays indicate the presence of multiple binding factors located in the promoter. At least six footprints were detected of which two have been shown to be C/EBP binding sites. Members of the C/EBP-alpha and C/EBP-beta, but not C/EBP-delta, family are able to bind to these two sites. Deletional and mutational studies revealed that C/EBP binding is not essential for the basal level of transcription initiation of this promoter. Much of the transcriptional activity resides in the -102 to -7 DNA fragment, which contains all initiator activity which acts unidirectionally. Within this fragment, four putative initiator elements could be identified; interestingly, the linear integrity of these initiators is important for efficient transcription of the XDH/XO gene. Separation of the initiators leads to a complete loss of transcription activity; however, this loss could be partially restored by the introduction of an Sp1 binding site upstream of the separated initiators. Despite a difference in usage/frequency of initiation at the various initiators, primer extension analyses reveal similar positions for transcription initiations in both XDH/XO reporter constructs and in the endogenous XDH/XO gene. The differential usage of initiators may imply a possible post-transcriptional regulation for the XDH/XO gene.

Animals↗
PubMed1995

A COL2A1 mutation in achondrogenesis type II results in the replacement of type II collagen by type I and III collagens in cartilage.

An autosomal dominant mutation in the COL2A1 gene was identified in a fetus with achondrogenesis type II. A transition of G2853 to A in exon 41 produced a substitution of Gly769 by Ser within the triple helical domain of the alpha 1(II) chain of type II collagen, interrupting the mandatory Gly-X-Y triplet sequence required for the normal formation of stable triple helical type II collagen molecules, resulting in the complete absence of type II collagen in the cartilage, which had a gelatinous composition. Type I and III collagens were the major species found in cartilage tissue and synthesized by cultured chondrocytes along with cartilage type XI collagen. However, cultured chondrocytes produced a trace amount of type II collagen, which was retained within the cells and not secreted. In situ hybridization of cartilage sections showed that the chondrocytes produced both type II and type I collagen mRNA. As a result, it is likely that the chondrocytes produced type II collagen molecules, which were then degraded. The close proximity of the Gly769 substitution by Ser to the mammalian collagenase cleavage site at Gly775-Leu776 may have produced an unstable domain that was highly susceptible to proteolysis. The type I and III collagens that replaced type II collagen were unable to maintain the normal structure of the hyaline cartilage but did support chondrocyte maturation, evidenced by the expression of type X collagen in the hypertrophic zone of the growth plate cartilage.

Abortion, Induced↗
PubMed1995

Febrile seizures and hippocampal sclerosis: frequent and related findings in intractable temporal lobe epilepsy of childhood.

The relationship between hippocampal sclerosis, febrile seizures, and complex partial seizures in temporal lobe epilepsy continues to be the subject of great debate in the literature. Hippocampal sclerosis is reported infrequently in young children with temporal lobe epilepsy, a factor that has supported the theory that hippocampal sclerosis develops in later life during the course of recurrent complex partial seizures. In a blinded review of magnetic resonance imaging in 53 children, aged 2-17 years (mean: 10 years) with temporal lobe epilepsy, hippocampal sclerosis was diagnosed in 30 children (57%), concordant with ictal electroencephalographic lateralization in 93% and pathologic diagnosis in all children who had undergone surgery and had hippocampal tissue available for histologic examination. Fourteen of the children (47%) with hippocampal sclerosis were younger than 10 years of age, the youngest being 2 years. Thirty-four children (64%) had histories of neurologic insults prior to the onset of complex partial seizures, including idiopathic febrile seizures in 22. Hippocampal sclerosis was associated with a history of a neurologic insult prior to the onset of complex partial seizures (P < .001) and was not associated with age at onset of temporal lobe epilepsy, age at magnetic resonance imaging, duration of epilepsy, or presence of secondarily generalized seizures. These findings suggest that hippocampal sclerosis is underdiagnosed in children and is the cause and not the consequence of temporal lobe epilepsy.

Adolescent↗
PubMed1995

Peroxisomal assembly defects: clinical, pathologic, and biochemical findings in two patients in a newly identified complementation group.

We describe the clinical, pathologic, and biochemical findings for two peroxisome-deficient patients in a newly identified complementation group. Both patients had biochemical findings typical of patients with peroxisome biogenesis disorders. However, whereas one patient had the typical clinicopathologic features of Zellweger syndrome, the other patient's phenotype was atypical.

Catalase↗
PubMed1995

Gingival fibromatosis and Klippel-Trénaunay-Weber syndrome. Case report.

A case of a young male with the Klippel-Trénaunay-Weber syndrome is described. Typical features of hemihypertrophy, hemangiomata, macrodactyly, and macrocephaly were present. The most striking oral feature was generalized severe gingival hypertrophy confirmed histologically, ultrastructurally, and by collagen analysis. In the absence of other known systemic causes of gingival enlargement, a diagnosis of familial gingival fibromatosis in association with Klippel-Trénaunay-Weber-syndrome is concluded. The combination of gingival fibromatosis and Klippel-Trénaunay-Weber syndrome has not been reported to our knowledge, it is uncertain whether this occurrence is significant or coincidental.

Child↗
PubMed1995

Disseminated, multiclonal Epstein-Barr virus-associated lymphoproliferative disease in a patient with hematological and immunological anomalies. Molecular analysis correlates with morphological appearance.

We report a case of a 21-year-old woman with hematopoietic, immunological, and congenital dysmorphic abnormalities, who died following rapidly progressive, disseminated Epstein-Barr virus (EBV)-associated lymphoproliferative disease (LPD). Polymerase chain reaction (PCR) amplification of formalin-fixed paraffin-embedded tissue showed differences in the clonality of each separate lymphoproliferative lesion examined, as determined by immunoglobulin heavy chain (IgH) gene rearrangement. PCR analysis also demonstrated that all lesions contained EBV genome. Since DNA had been extracted from paraffin blocks, a direct comparison of morphology and clonality could be made in each individual lesion. The evidence from this study indicates that the monoclonal tumors arose de novo in multiple sites and that the polyclonal background observed in some lesions reflected a substantial concomitant inflammatory response.

Blotting, Southern↗
PubMed1995

Primary cutaneous Ewing's sarcoma/peripheral primitive neuroectodermal tumors in childhood. A molecular, cytogenetic, and immunohistochemical study.

Childhood cutaneous and subcutaneous malignancies are rare and include metastatic tumors of diverse histogenesis as well as primary lesions, such as sweat gland carcinomas. Some cutaneous malignancies exhibit a small round cell tumor morphology with few definitive differentiating features; they can thus pose a significant diagnostic problem. We describe two primary malignancies of the skin and superficial subcutis, which were originally diagnosed as sweat gland carcinomas on the basis of their morphological features. A cytogenetic analysis performed on one of these lesions showed the t(11;22)(q24;q12) rearrangement, believed to be unique to the Ewing's sarcoma/peripheral primitive neuroectodermal tumor (ES/pPNET) group of neoplasms. In view of this unexpected result, reverse transcriptase-polymerase chain reaction analysis was performed on both lesions and showed that they expressed EWS/FLI-1 fusion gene mRNA transcripts, the molecular equivalent of t(11;22)(q24;q12). The two tumors also had an immunohistochemical profile suggesting ES/pPNET, including strong expression of the MIC2 antigen. Both patients were treated with wide local excision, and one was given a course of chemotherapy. Neither patient showed evidence of tumor elsewhere after follow-up periods of 2 years and 16 years. These findings suggest that these tumors are indeed a form of primary ES/pPNET arising in the skin or superficial subcutis, which may be of low-grade malignancy and curable by local surgery.

Base Sequence↗
PubMed1995

Ion transport and the function of phagocytic cells.

Inorganic ions constitute the predominant osmolytes of blood cells and are therefore the main determinant of the cellular volume. In leukocytes, maintenance of constant cell size is accomplished by modulating the ionic permeability of the membrane. In addition, the plasmalemmal ionic permeability dictates the transmembrane potential, which influences a variety of cellular responses. Inorganic ions are also essential for the regulation of the intracellular pH and play an active role in signal transduction during phagocyte activation. This chapter reviews recent progress in the area of ion transport in phagocytic leukocytes, with special reference to the physiologic implications to the activation process.

Animals↗
PubMed1995

Signaling events in monocytes and macrophages.

The cellular signaling events leading to the systemic inflammatory response syndrome and sepsis in monocytes/macrophages activated by lipopolysaccharide (LPS) are well understood. LPS is a glycolipid component of Gram-negative bacterial cell wall. It exerts its effect through the lipid A moiety. LPS binds to monocytes/macrophages via a membrane-bound receptor, CD14, an interaction which is optimized in the presence of plasma factors, LPS-binding protein, and septin. Although LPS is known to bind to other receptors, the roles of these receptors in transmembrane signaling and activation of monocytes/macrophages are not as well understood as is that of the CD14 receptor. Intracellular events in response to LPS stimulation are mediated by phospholipase (PL) C, protein kinases, PLA2, and PLD. Activation of PLC by LPS results in the release of diacylglycerol and inositol 1,4,5-trisphosphate. The former mediates the stimulation of protein kinase C, and the latter induces an increase in intracellular calcium concentration. LPS stimulation of monocytes/macrophages also results in the phosphorylation and activation of several protein kinases, including protein tyrosine kinases which mediate cytokine production, and mitogen-activated protein kinase which activates cytosolic PLA2 to release arachidonate. LPS also plays a role in cellular proliferation and differentiation. Upregulation of the secretory form of PLA2 has also been documented in response to LPS. PLD is stimulated by LPS to release phosphatidic acid (PA). PA can activate the respiratory burst by increasing diacylglycerol production and by modulating the effects of guanine nucleotide-binding proteins. Therapeutic strategies to decrease the clinical effects of sepsis would logically include agents which block at initial receptor-ligand interaction, as well as those which attenuate the intracellular events that follow LPS stimulation. Early in vivo studies are promising, but clearly much work remains to be done.

Animals↗
PubMed1994

Identification of the rat xanthine dehydrogenase/oxidase promoter.

Inflammation and ischemia--reperfusion tissue injury are important pathophysiologic processes with a wide spectrum of clinical presentations; the enzyme xanthine dehydrogenase/oxidase (XDH/XO) is thought to play a key role in ischemia--reperfusion injury. Recent studies have shown the transcriptional regulation of XDH/XO by cytokines (Dupont et al., 1992, J. Clin. Invest. 89, 197-202). In the present study, the 5' structure of the XDH/XO gene and characterization of its promoter are undertaken providing an initial step to further elucidate the regulatory mechanism(s) of this enzyme. XDH/XO cDNA from rat bone marrow macrophage has been isolated and used to screen a rat genomic library in order to identify and characterize the promoter of the XDH/XO gene. By Southern analysis, XDH/XO was found to be a single copy gene in the rat genome. Primer extension, RNase protection, and anchor-PCR studies indicate the presence of multiple start sites within a 65 bp window located some 20-85 bp upstream of the translation initiator (ATG). Functional studies of the sequences up to 116 nt upstream of the translational start site, which encompasses the several transcriptional start sites, indicate that this region is sufficient to drive the expression of a luciferase reporter gene and is presumed to represent the promoter. Neither a TATA box nor a GC-rich region are present in close proximity to any of the transcriptional start sites; however, sequences with homology to known initiator elements are found within this 116 bp fragment. Several possible regulatory elements, including a NF-IL6 motif, are also located upstream of the transcriptional start site. This study represents the first description of the XDH/XO promoter from a vertebrate system.

Animals↗
PubMed1994

Generalised nuclear and cytoplasmic inclusion disease: a rare case investigated by microscopy and immunohistochemistry.

A Caucasian female who was noted to be mildly microcephalic at birth was diagnosed as having cerebral palsy at the age of 1 year. Her development was delayed and she never walked or talked. She appeared relatively stable neurologically until the age of 17 years when she had an illness with fever thought to be due to a virus. She was noted to deteriorate from this time on until her death at the age of 19 years. Autopsy revealed intranuclear and cytoplasmic inclusions wide-spread throughout the brain and visceral organs. There was no evidence of inflammation. Immunohistochemistry revealed strong immunoreactivity for tau protein and neurofilament protein. Electron microscopy revealed the inclusions to be composed of homogeneous finely granular material. Scattered within the granular material in the cytoplasmic bodies were crystalline structures with a honeycomb appearance. The possibility of these changes representing an old viral infection or a primary metabolic disorder are discussed.

Adult↗
PubMed1994

Hydrocephalus ex vacuo and clasp thumb deformity due to congenital cytomegalovirus infection.

A case of congenital hydrocephalus in a male infant with flexion deformity of the thumbs and great toes is reported. A maternal uncle had undefined intellectual impairment and X-linked hydrocephalus was considered among the differential diagnoses. However, this diagnosis was considered unlikely as the pyramids were preserved at autopsy. In addition, postmortem histopathology and viral culture established cytomegalovirus (CMV) infection as the underlying cause of the hydrocephalus. Although CMV infection is a well recognized cause of congenital hydrocephalus, the associated flexion deformities of the thumbs and great toes have not been previously described and may reflect injury to the corticospinal tracts.

Adult↗
PubMed1994

The clinical features of Ehlers-Danlos syndrome type VIIB resulting from a base substitution at the splice acceptor site of intron 5 of the COL1A2 gene.

The features of a 32 year old woman with Ehlers-Danlos syndrome type VIIB and affected members of her family, resulting from a mutation in one COL1A2 allele, were studied. Her dermal type I collagen contained alpha 2(I) chains and mutant pN-alpha 2(I) chains in which the amino-terminal propeptide remained attached to the alpha 2(I) chain. She was heterozygous for an AG-->AC mutation at the splice acceptor site of intron 5 of the COL1A2 gene. The mutation activated a cryptic AG splice acceptor site corresponding to positions +14 and +15 of exon 6 of the COL1A2 gene. In contrast to previous reports only five, rather than all 18, amino acids encoded by exon 6 were deleted in the proband. The deleted peptide removed the amino-proteinase cleavage site, but not the nearby lysine cross linking site in the amino-telopeptide of the alpha 2(I) chain. She was born with bilateral hip dislocations, knee subluxations, and generalised joint hypermobility. Bilateral inguinal herniae and an umbilical hernia were present at birth. Facial features included a depressed nasal bridge with prominent paranasal folds. The skin was soft, moderately hyperelastic, and sagged over the face. Skin fragility and easy bruising were apparent from childhood. Skin wounds healed slowly and with broad, paper thin scars. Throughout her life, she had multiple fractures of the small bones of her hands and feet following moderate trauma. Electron microscopy of the proband's dermis as well as deep fascia and hip joint capsule from her affected brother showed that collagen fibrils in transverse section were nearly circular but with irregular margins. Light microscopy of bone from her affected brother and son showed normal Haversian systems and lamellar bone. All of these tissues contained approximately equal amounts of the normal and mutant alpha2(I) chains. The findings of this study confirm that loss of the amino-proteinase cleavage site of the pro alpha2(I) collagen chains, owing to anomalous splicing of exon 6 sequences in the conversion of pre-mRNA to mRNA, produces the clinical features of Ehlers-Danlos syndrome type VIIB. The history of frequent fractures found in this family is atypical and indicates an overlap with osteogenesis imperfecta.

Adult↗
PubMed1993

Fetal tissue involvement in the late infantile type of neuronal ceroid lipofuscinosis.

Prenatal diagnosis in a pregnancy at risk for late infantile neuronal ceroid lipofuscinosis (Batten's disease) was undertaken at 17 weeks' gestation by ultrastructural examination of amniotic fluid cells. The presence of curvilinear profiles indicated an affected fetus and the diagnosis was confirmed, after the pregnancy was terminated, by the finding of many typical curvilinear profiles in multiple tissues which included skin, amnion, umbilical vessels, blood, liver, and brain. Comparison between the involved cells in the amniotic fluid and fetal tissues suggests that these cells are probably derived from the periderm, and possibly also from the amnion. The prominent presence of cytosomes in the periderm and intermediate cells of the fetal epidermis and occasionally also in the endothelial cells of the dermis suggests that fetal skin may be a useful alternative site for assessing fetal involvement. Control specimens of the amniotic fluid, fetal skin, amnion, and liver showed no similar cytosomes. However, some control amniotic fluid samples did contain cells with large collections of irregular trilaminar membranes, and these could be open to misinterpretation. It is important that only typical curvilinear profiles are considered as an indication of an affected pregnancy.

Abortion, Therapeutic↗
PubMed1993

alpha-Amylase as a marker for evaluating the stability of recombinant yeast in long-term cultivation.

We describe here a simple method for analyzing the stability of recombinant yeast. The mouse salivary alpha-amylase gene was used in this system as a marker since the stability of recombinant yeast can be detected easily by a halo zone-for-ming assay on starch-supplemented plates. We used this method to evaluate the stability of recombinant yeast harbouring a 2 mu directed episomal plasmid and of yeast harbouring the r-DNA directed integrative vector. Our results demonstrated clearly that the alpha-amylase gene was a convenient and reliable marker for evaluating the stability of recombinant yeasts in long-term cultivation.

Animals↗
PubMed1993

Chronic multifocal osteomyelitis.

We describe 22 patients who presented between the ages of 4 and 14 years with gradual onset of malaise and pain at the sites of multiple bone lesions. The symptoms from the bone lesions were sometimes sequential in onset and often relapsing. The radiological findings were typical of osteomyelitis. Radioisotope bone scans identified some clinically silent lesions. Bone biopsies were performed in 20 patients and the changes of osteomyelitis were seen in 17; microbiological culture was positive in only one. Seven patients had polyarthritis, two had palmoplantar pustulosis and one had psoriasis. Some symptomatic relief was obtained with anti-inflammatory agents and, to a less extent, with antibiotics. No patient had primary immunodeficiency. The mean duration of symptoms from the bone lesions was two years (1 to 4). When arthritis was present the joint symptoms lasted considerably longer (mean 7 years; range 4 to 10). The long-term prognosis was generally good. There was no evidence of altered bone growth or abnormal joint development. One patient developed a progressive kyphosis requiring fusion, but no other surgical intervention was necessary.

Adolescent↗