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Biomedical subjects

Alison Jones

Publications and source records attributed to Alison Jones.

At least 19 recordsLinked to original sources
PubMed2007

RPGR mutation analysis and disease: an update.

Mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene are the most common single cause of retinitis pigmentosa, accounting for up to 15 to 20% of cases in Caucasians. A total of 240 different RPGR mutations have been reported, including 24 novel ones in this work, which are associated with X-linked retinitis pigmentosa (XLRP) (95%), cone, cone-rod dystrophy, or atrophic macular atrophy (3%), and syndromal retinal dystrophies with ciliary dyskinesia and hearing loss (2%). All disease-causing mutations occur in one or more RPGR isoforms containing the carboxyl-terminal exon open reading frame 15 (ORF15), which are widely expressed but show their highest expression in the connecting cilia of rod and cone photoreceptors. Of reported RPGR mutations, 55% occur in a glutamic acid-rich domain within exon ORF15, which accounts for only 31% of the protein. RPGR forms complexes with a variety of other proteins and appears to have a role in microtubular organization and transport between photoreceptor inner and outer segments.

Animals↗
PubMed2006

Serial transplantation of mismatched donor hematopoietic cells between HLA-identical sibling pairs with congenital immunodeficiency: in vivo tolerance permits rapid immune reconstitution following T-replete transplantation without GVHD in the secondary recipient.

We report serial transplantation procedures in 2 sets of brothers with X-linked primary immunodeficiency. The first boy in each family received a T-cell-depleted transplant from a mismatched donor. The recipients then acted as donors for T-replete transplantation of the "tolerized" graft into their HLA-identical brothers with the same disorder. Immune reconstitution was noted to occur at a significantly faster rate in the secondary recipients, and without the occurrence of graft-versus-host disease (GVHD), despite the presence of donor cells mismatched for 1 to 3 HLA antigens. This serial transplantation technique allows the primary recipient of HLA-mismatched donor cells to act as a functionally "HLA-matched" donor for subsequent affected siblings, and should be considered as a therapeutic option in families with congenital disorders.

Child↗
PubMed2006

Educating undergraduate medical students about oncology: a literature review.

PURPOSE: This article is a review of the literature regarding teaching oncology to undergraduate medical students. METHODS: MEDLINE, Psychinfo, ERIC, TIMELIT, EMBASE, CINAHL and the Cochrane CENTRAL Register of Controlled Trials (CENTRAL) were searched, using the search terms cancer, oncology, education, undergraduate, and teaching. RESULTS: The main findings can be summarized as follows: the involvement of patients in teaching is popular with students and portfolio learning is a successful way of involving patients; the use of standardized patients to teach breast examination improves students' performance in clinical assessment; the use of silicone models to teach breast examination improves students' sensitivity for detecting breast lumps; computer aided learning modules have a role, but are not superior to other types of learning; learning about cancer screening and prevention increases students' knowledge, improves their self rated skills, and changes their behavior; and cancer patients have an important role to play in teaching undergraduate communication skills. CONCLUSION: We have found 48 articles on undergraduate teaching in oncology. Oncology teachers should consider adopting the evidence based approaches outlined in this review, and there should be more emphasis on educational research within the field of oncology.

Communication↗
PubMed2006

Learning the house officer role: reflections on the value of shadowing a PRHO.

In the new integrated undergraduate medical programme at the University of Manchester, fifth-year students spend several weeks shadowing the pre-registration house officer (PRHO) whose post they will take over. The concept of 'shadowing' emerged from a set of interviews conducted with graduates during their first PRHO job. Graduates felt that shadowing helped them to gain familiarity with the work environment; with orientation to the role of a PRHO; and with specific learning, such as disease management, on which they could then get feedback. We hypothesize that shadowing provides an opportunity for focused apprenticeship learning of the future PRHO role. Further research may clarify the specific values of shadowing and how it might lessen the stresses faced by new graduates during the transition from student to doctor.

Education, Medical, Undergraduate↗
PubMed2006

Prolonged clinical effects in modified-release amitriptyline poisoning.

BACKGROUND: Tricyclic antidepressant poisoning is often associated with significant cardiovascular and central nervous system toxicity. Effective treatment includes the use of appropriate gastric decontamination techniques, the administration of sodium bicarbonate, and meticulous supportive care. Tricylcic antidepressant toxicity typically lasts 24-48 hours following a significant overdose. CASE REPORT: We describe a case of tricyclic antidepressant poisoning where significant clinical toxicity (QRS prolongation, metabolic acidosis) was observed for up to 4 days following ingestion of a modified-release preparation of amitriptyline. Successful patient recovery was associated with the use of multidose activated charcoal and repeated administration of intravenous sodium bicarbonate. CONCLUSIONS: Clinicians should be aware of the potential for prolonged tricyclic toxicity in patients who have ingested modified-release amitriptyline in overdose. Gastric decontamination techniques such as multidose activated charcoal and whole bowel irrigation should be considered where there is evidence of ongoing tricyclic antidepressant absorption or clinical toxicity following ingestion of a modified-release preparation. These interventions may be indicated for prolonged periods (greater than 36 hours) post ingestion.

Acidosis↗
PubMed2005

Chemotherapy for breast cancer during pregnancy: an 18-year experience from five London teaching hospitals.

PURPOSE: The rare association between breast cancer and pregnancy means that few oncologists gain an expertise in this area. In particular, there are few published data concerning the use of chemotherapy for breast cancer during pregnancy. In this retrospective case series, we describe the experiences of five hospitals in London, United Kingdom, and how they manage this condition. PATIENTS AND METHODS: Retrospective searches were performed at five London hospitals in order to identify women who received chemotherapy for breast cancer while pregnant. RESULTS: Twenty-eight women were identified who had received chemotherapy for breast cancer during pregnancy. Twenty-four women received adjuvant or neoadjuvant chemotherapy for early breast cancer, and four women received palliative chemotherapy for metastatic disease. A total of 116 cycles of chemotherapy were administered during pregnancy. Sixteen women were treated with anthracycline-based chemotherapy and 12 received cyclophosphamide, methotrexate, and fluorouracil. All but one of the women were treated after the first trimester. One spontaneous abortion occurred in the woman treated during her first trimester; otherwise, there were no serious adverse consequences for the mothers or neonates. CONCLUSION: These data provide evidence that in terms of peripartum complications and immediate fetal outcome, chemotherapy can be safely administered to women during the second and third trimesters of pregnancy.

Adult↗
PubMed2005

Genetic linkage of autosomal dominant progressive supranuclear palsy to 1q31.1.

Progressive supranuclear palsy (PSP) is a disorder of unknown pathogenesis. Familial clusters of PSP have been reported related to mutations of protein tau. We report the linkage of a large Spanish family with typical autosomal dominant PSP to a new locus in chromosome 1. Four members of this family had typical PSP, confirmed by neuropathology in one case. At least five ancestors had similar disease. Other members of the family have incomplete phenotypes. The power of the linkage analysis was increased by detecting presymptomatic individuals with 18F-fluoro-dopa and 18F-deoxyglucose positron emission tomography. We screened the human genome with 340 polymorphic markers and we enriched the areas of interest with additional markers. The disease status was defined according to the clinical and positron emission tomography data. We excluded linkage to the tau gene in chromosome 17. PSP was linked, in this family, to one area of 3.4 cM in chromosome 1q31.1, with a maximal multipoint < OD score of +3.53. This area contains at least three genes, whose relevance in PSP is unknown. We expect to further define the gene responsible for PSP, which could help to understand the pathogenesis of this disease and to design effective treatment.

Aged↗
PubMed2005

Re-entry adjustment of cross cultural workers--the role of the GP.

BACKGROUND: Re-entry adjustment affects Australian cross cultural workers returning home; and for many, loss and grief issues arise. General practitioners are often the first point of contact in the health care system and are well placed to deal with these issues. OBJECTIVE: This article examines strategies that GPs can use to support the Australian cross cultural worker on re-entry, and focuses on recognition of re-entry adjustment, the role of loss and grief issues, and the importance of dealing with these issues. DISCUSSION: Australian cross cultural workers are valued members of their communities. However, their loss and grief issues associated with re-entry adjustment on return are often unrecognised and may lead to significant morbidity. Acknowledgment of their disenfranchised grief and appropriate therapy may be part of the role of their GP. Further research is needed to equip GPs to manage this important group in the Australian community.

Acculturation↗
PubMed2004

Improved survival after unrelated donor bone marrow transplantation in children with primary immunodeficiency using a reduced-intensity conditioning regimen.

The optimal approach to stem cell transplantation in children with immunodeficiency who lack a matched family donor is controversial. Unrelated donor stem cell transplantation gives equivalent outcome to mismatched family donor stem cell transplantation in severe combined immunodeficiency, whereas unrelated donors may be preferable in non-severe combined immunodeficiency children. However, unrelated donor stem cell transplantation with conventional conditioning regimens has been associated with significant treatment-related toxicity, particularly in non-severe combined immunodeficiency patients with preexisting organ dysfunction. We report the outcome of a series of 33 consecutive unrelated donor transplantations performed at our center in children with primary immunodeficiency using a reduced-intensity conditioning regimen between 1998 and 2001. We have compared these outcomes with a retrospective control cohort of 19 patients who underwent transplantation with myeloablative conditioning between 1994 and 1998. All children in both groups had primary engraftment. There was no statistical difference in the speed of immune reconstitution or incidence of graft-versus-host disease between the 2 groups. Overall survival was significantly better in the reduced-intensity conditioning group: 31 (94%) of 33 patients survived, compared with 10 (53%) of 19 in the myeloablative conditioning group (P = .014). We conclude that the reduced-intensity conditioning regimen results in improved survival and reduced transplantation-related mortality compared with myeloablative conditioning in high-risk patients undergoing unrelated donor transplantation.

Adolescent↗
PubMed2004

Lymphomagenesis, hydronephrosis, and autoantibodies result from dysregulation of IL-9 and are differentially dependent on Th2 cytokines.

Interleukin-9 is an immunoregulatory cytokine implicated in the development of asthma and allergy. To investigate the role of IL-9 in vivo, we have generated transgenic mice in which IL-9 is expressed from its own promoter. Strikingly, overexpression of IL-9 resulted in premature mortality associated with a complex phenotype characterized by the development of autoantibodies, hydronephrosis, and T cell lymphoma. By intercrossing IL-9 transgenic mice with a panel of Th2 cytokine-deficient mice, we demonstrate that these disorders represent distinct phenotypes that can be dissociated by their differential dependence on Th2 cytokines. Autoantibody production was ablated in IL-9 transgenic animals with a combined absence of IL-4, IL-5, and IL-13, coincident with a reduction in peritoneal B-1 cells. Hydronephrosis arose in 75% of IL-9 transgenic animals and was dependent on the presence of IL-4 and IL-13. In contrast, T cell lymphomas developed independently of the other Th2 cytokines, with the generation of rapidly proliferating CD8(+) or CD4(+)CD8(+) T cell clones that arose in the thymus before infiltrating both lymphoid and nonlymphoid tissues. Our data highlight potentially important new roles for IL-9, through its regulation of downstream Th2 effector cytokines, in autoantibody production and in hydronephrosis.

Animals↗
PubMed2004

Liver disease in children with primary immunodeficiencies.

OBJECTIVE: To investigate clinical features and to establish optimal management in children with primary immunodeficiency (PID) and liver disease. Study design A retrospective analysis of medical records of 147 children with PID who presented with abnormal liver tests to a tertiary center. RESULTS: Clinical evidence of liver disease was documented in 35 (23.8%) patients. Of these, 22 (63%) had hepatomegaly and 14 (40%) had splenomegaly. Sclerosing cholangitis (SC) was diagnosed in 21 children (60%), based on radiological and histological criteria; 4 patients with SC on cholangiography had no biliary changes in the liver biopsy. Ultrasonography demonstrated a dilated biliary system in 14 (67%) children with SC. Of 27 children investigated for Cryptosporidium parvum (CSP), 12 (44%) were positive, including 9 of 12 with SC. Overall, 7 (20%) patients died, including 3 boys with disseminated recurrent CSP infection after successful liver transplantation (LT). Temporary deterioration of liver injury was observed in 2 CSP-positive boys with CD40 ligand deficiency (CD40LD) who were undergoing nonmyeloablative hematopoietic stem cell transplantation (HSCT). Successive liver and HSCT was curative in 1 patient with CD40LD and end-stage liver disease. CONCLUSION: SC is the most common hepatic complication of PID. Mild liver involvement could be arrested by early nonmyeloablative HSCT, whereas advanced disease may warrant combined liver and HSCT.

Adolescent↗
PubMed2004

Bilateral peripheral T-cell lymphoma of the fallopian tubes.

BACKGROUND: Lymphoma of the female genital tract is rare, and usually involves the ovaries or the uterus. Most cases of fallopian tube lymphoma reflect disease arising in the ovaries. All previously reported cases of primary lymphoma of the fallopian tube were of B cell lineage. CASE: A 51-year-old woman presented with systemic upset and a pelvic mass. At laparotomy, both fallopian tubes were inflamed and histological examination revealed peripheral T-cell lymphoma. At staging, she had IIB(E) disease, and she was treated with six cycles of CHOP-M chemotherapy. CONCLUSION: Our case is unusual in that this is the first described case of peripheral T-cell lymphoma arising in the fallopian tubes and is moreover unusual because of the involvement of both fallopian tubes without involvement of other gynaecological organs. The clinical course was favourable with complete remission maintained for more than 5 years.

Fallopian Tube Neoplasms↗