Showing papers by "Joanne E. Martin published in 2011"
TL;DR: A loss-of-function mutation in ADAM17, which encodes a disintegrin and metalloproteinase 17 (also called tumor necrosis factor α [TNF-α]-converting enzyme, or TACE), is identified as the probable cause of this syndrome.
Abstract: We performed genetic and immunohistochemical studies in a sister and brother with autosomal recessive neonatal inflammatory skin and bowel lesions. The girl died suddenly at 12 years of age from parvovirus B19-associated myocarditis; her brother had mild cardiomyopathy. We identified a loss-of-function mutation in ADAM17, which encodes a disintegrin and metalloproteinase 17 (also called tumor necrosis factor α [TNF-α]-converting enzyme, or TACE), as the probable cause of this syndrome. Peripheral-blood mononuclear cells (PBMCs) obtained from the brother at 17 years of age showed high levels of lipopolysaccharide-induced production of interleukin-1β and interleukin-6 but impaired release of TNF-α. Despite repeated skin infections, this young man has led a relatively normal life. (Funded by Barts and the London Charity and the European Commission Seventh Framework Programme.).
274 citations
TL;DR: Patients with gastrointestinal neuromuscular diseases may undergo operative procedures that yield tissue appropriate to diagnosis of underlying neuromUScular pathology that do not include quantitative values due to lack of adequate control data.
Abstract: Background Patients with gastrointestinal neuromuscular diseases may undergo operative procedures that yield tissue appropriate to diagnosis of underlying neuromuscular pathology. Critical to accurate diagnosis is the determination of limits of normality based on the study of control human tissues. Although robust diagnostic criteria exist for many qualitative alterations in the neuromuscular apparatus, these do not include quantitative values due to lack of adequate control data. Purpose The aim of this report was to summarize all relevant available published quantitative data for elements of the human enteric nervous system (neuronal cell bodies, glial cells, and nerve fibers) from the perspective of the practicing pathologist. Forty studies meeting inclusion criteria were systematically reviewed with data tabulated in detail and discussed in the context of methodological variations and limitations. The results reveal a lack of concordance between observations of different investigators resulting in data insufficient to produce robust normal ranges. This diversity highlights the need to standardize the way pathologists collect, process, and quantitate neuronal and glial elements in enteric neuropathologic samples, as suggested by recent international guidelines on gastrointestinal neuromuscular pathology. (Less)
71 citations
TL;DR: It is shown that CD95 surface modification of relatively large microparticles >0.5 μm in diameter, including those made from biodegradable polylactic-co-glycolic acid (PLGA), enhances intracellular uptake by a range of CD95L expressing cells in a process akin to phagocytosis.
15 citations
TL;DR: It is postulated that the smooth muscle complex seen in anorectal malformations may represent a similar internal anal sphincter complex which maybe of functional significance, and further IHC of tissue sections will allow reconstruction of the exact three-dimensional smooth muscle structure of the anorctum in neonates that are normal and neonates with anoreCTal malforms.
Abstract: Aim
To evaluate the presence of smooth muscle in relation to the anorectum in neonates that are normal and in neonates with anorectal malformations using immunohistochemical staining of antibodies specific to smooth muscle actin (SMA).
5 citations
TL;DR: To assess this hypothesis, as well as to observe the distribution of HbF cells in malignant conditions, the present immunohistochemical study in the bone marrow and spleen of leukaemia patients was performed.
Abstract: Fetal haemoglobin (HbF) is an established tumour marker of erythroid lineage in various malignancies, including leukaemia.1 γ-Globin gene reactivation has been found to occur during the differentiation of various leukaemia cell lines,2–4 suggesting that leukaemia blasts, unlike their normal analogous cells, have the potential to differentiate into HbF cells. To assess this hypothesis, as well as to observe the distribution of HbF cells in malignant conditions, we performed the present immunohistochemical study in the bone marrow and spleen of leukaemia patients.
The programme of research, including studies on archival and stored materials, was approved by the Research Ethics Committee of the East London and City Health Authority. Histopathological specimens included bone marrow trephine biopsies and surgical specimens of spleen tissues from patients with leukaemia or lymphoma. By reviewing the records of chemotherapy administration, care was taken for all histological specimens examined to exclude patients treated with any chemotherapy in the previous 6 months. For immunohistochemical detection of HbF, we used the peroxidase-labelled avidin-biotin method, as previously described,5 changing only the source of affinity purified, polyclonal, sheep antihuman HbF primary antibody (Abcam, Cambridge, UK). As usual, the immunostaining specificity was confirmed by controls of omitting the primary antibody. Bone marrow biopsies from 72 patients with myeloid leukaemia (40 acute myeloid leukaemia (AML) and 32 chronic myeloid leukaemia (CML)) and 43 patients with lymphoid leukaemia (21 acute lymphoid leukaemia (ALL) and 22 …
2 citations
TL;DR: Isochronalmapping demonstrated that circumferential propagation led to the rapid restoration of a normal longitudinal wavefront distal to the source of the dysrhythmia, and promoted organized retrograde propagation in the case of antral tachygastria.
2 citations
TL;DR: Clinical phenotyping remains difficult in many patients, but the availability of specialist pathologic review and the standardization of staining between laboratories are leading to better defined histologic phenotypes, that inform, in turn, possible biological processes at work in these patients.
1 citations