From the shadows of death into the light of acceptance: A lived experience of patients with HIV-AIDS

HIV/AIDS is one of the feared diseases worldwide. It is a disease thoroughly studied yet still incurable in this modern era. Having acquired it is like being faced with the possibility of spending life in limbo-marked by the disease, excluded from the norms of society and an outcast to many. The study has aimed to capture how patients with HIV/AIDS struggled with living with the disease, the obstacle they had to overcome and how they were able to deal with the problems that they encountered after being diagnosed with such disease. A descriptive phenomenology utilizing a semi-structured face-to-face interview was used. Four key informants (KI) from Metro Manila shared their lived experiences unreservedly. Through Colaizzi's data analysis two major themes and five subthemes reflected the lived experiences of dying persons living with HIV/AIDS: (1) Scourging of the Pessimistic Spirits (a) fear is a dark room where negatives are developed, (b) a spirit crying for succor. (2) Rise of the Optimistic Spirit (a) burning bush in the darkness, (b) transformation in the midst of the battle for life (c) acceptance as transcending condition. In learning their HIV/AIDS diagnosis, the KI had to go through a series of steps in their lives to accommodate this major trial into their identity. They had to experience the psychological distress and the physical limitations caused by the disease before discovering that they do not have to live in fear and isolation. They were able to emerge from the darkness of negativity into the light of acceptance and hope and have used their experiences as a way to teach and support others who are in the same predicament as they were before. They have also learned to accept their imminent death as part of their life

No disponible

[Impact of prenatal corpus callosum agenesis diagnosis on pregnancy outcome. Evaluation of 155 cases between 2000 and 2006]. / Impact du dépistage anténatal des agénésies du corps calleux sur le devenir des grossesses. Etude de 155 dossiers de 2000 à 2006.

The purpose of this study was to investigate the changes between 2000 and 2006 in pregnancy outcome when a diagnosis of either isolated or associated fetal corpus callosum agenesis (CCA) was made, given that beginning in 2003, the information provided to couples facing this problem related a good prognosis in nearly 80 % of cases of isolated CCA and a poor prognosis in 20 % of cases. We retrospectively analyzed all pregnancies with a fetal diagnosis of CCA between 2000 and 2006 (n=155) and compared two periods: the first group from 2000 to June 2003, the second from July 2003 to 2006. For each group, we analyzed the type of CCA during pregnancy - either isolated or associated - and the outcome of pregnancy. We compared the rate of pregnancy termination before and after 2003 and analyzed the accuracy of the prenatal CCA diagnosis. Of the 155 patients studied, 62 terminated the pregnancy. The overall rate of termination decreased from 31/70 to 31/85. When CCA was said to be isolated prenatally, the rate of pregnancy termination fell from 13/35 to 9/44 (-17 %) (p<0.05). Nine diagnoses of CCA were corrected after birth or by postmortem examination. Improvement of prenatal diagnosis requires better quality of prenatal screening, with a more systematic study of dysmorphic features, a study of correlations between the type of CCA and the neurological prognosis, and more genetic studies.

Is rapid aneuploidy screening used alone acceptable in prenatal diagnosis? An evaluation of the possible role of ultrasound examination.

OBJECTIVE: The objectives of this study were to use a factual basis to: (1) determine the number, nature, and probable phenotypic consequences of karyotype anomalies that would probably be missed (structural anomalies, uncommon aneuploidies and mosaic aneuploidies) by rapid aneuploidy screening (RAS), and (2) appraise whether RAS can replace traditional karyotyping when amniocenteses are performed for increased risk of Down's syndrome by maternal serum screening or advanced maternal age in the absence of ultrasound abnormality. METHODS: This retrospective cohort study analysed the indications, results and outcomes of 5,713 consecutive amniocenteses over a 5-year period at a single prenatal diagnosis centre in Paris. RESULTS: Advanced maternal age and increased Down's risk with maternal serum marker were the most common indications. Chromosome abnormalities were detected in 3.64% of the pregnancies tested, and unexpected structural anomalies in 0.63% (n = 36). Translocations were more likely to be reciprocal, balanced and of parental origin. There were 6 mosaic gonosomal aneuploidies. Overall, 4 mosaic autosomal aneuploidies and 36 structural aberrations would not have been recognised by RAS alone. Of the 4 mosaic autosomal aneuploidies, all were terminated, one had major malformations and the others had discrete signs that a good quality ultrasound examination would probably not detect. Of the 36 structural aberrations, 24 would be undetected by ultrasound scan, from which 6 would be associated with a significant risk of an abnormal phenotype outcome. CONCLUSION: In conclusion, our data do not provide evidence that RAS can replace the traditional karyotype. It is probably impossible to arrive in a universal conclusion of which approach (karyotype or RAS) is definitely better than the other. Each prenatal centre could have its own approach depending on the local data analysis, including quality control of ultrasounds.

[Assessment of thyroid hormones and androgens in amniotic fluid: clinical interest]. / Dosage des hormones thyroïdiennes et surrénaliennes dans le liquide amniotique: aide au diagnostic.

Ultrasound scanning is able to detect foetal goiter due either to an hypothyroidy either to an hyperthyroidy, or clitoris hypertrophia resulting from adrenal hyperplasia in female, during the second half of pregnancy. The diagnosis of these rare diseases is of interest because the treatment can be started during pregnancy. An amniotic fluid punction can be discussed and its biochemical analysis may be of interest even though very few commercial assays have been tested on amniotic fluid. Our aim was two investigate the practicability and the value of free thyroxin (FT4), thyrotropin (TSH), 17alpha hydroxyprogesterone (17-OHP) and delta 4 androstenedione (Delta4A) measurement on amniotic fluid using commercially available assays for serum. FT4 and TSH are detectable at low levels in amniotic fluid. FT4 significantly increases from 2.1 pmol/L to 4.2 pmol/L while TSH significantly decreases from 0.27 mU/L to 0.12 mU/L during the second half of pregnancy. An increase in amniotic fluid TSH concentration contributes to the diagnosis of foetal hypothyroidy while the measurement of amniotic fluid FT4 is not informative in case of foetal goiter. 17-OHP and Delta4A are present in amniotic fluid at the same level as in serum. 17-OHP significantly decreases from 1.9 ng/mL to 1 ng/mL during the second half of pregnancy while Delta4A significantly increases from 0.5 ng/mL to 0.8 ng/mL. Absence of increase in their concentrations excludes any severe adrenal hyperplasia.

Fetal loss after amniocentesis in a series of 5,780 procedures.

OBJECTIVES: Counseling on prenatal diagnosis requires accurate knowledge of the associated risks, including fetal loss. The objective of our study was to assess this risk of amniocentesis in a single center with several operators. METHODS: This retrospective analysis concerns only women with singleton pregnancies who underwent amniocentesis between 14(+0) and 23(+6) weeks' gestation. RESULTS: During this 4.5-year period, 5,780 amniocenteses were performed, of which we analyzed 5,319. The rate of fetal loss was 70 in 4,858 tests (1.4%), with a lost-to-follow-up rate of 3.8%. CONCLUSION: Our results for fetal loss are comparable to those in the largest series with fewer operators already published.

Use of complementary and alternative medicine by Brazilian oncologists.

Complementary and alternative medicine (CAM) is frequently employed by patients with cancer. An extensive survey was conducted among Brazilian cancer physicians to understand their attitude towards CAM. A questionnaire was sent to all 655 members of the Brazilian Cancer Society asking what is their opinion regarding CAM and if they would prescribe any CAM modality for their patients. They were also questioned regarding their degree of awareness of CAM self-administration by their patients. Overall, 119 questionnaires were returned to us (18%). Most oncologists knew at least one type of CAM (96.6%) and 76.7% had previously made use of at least one type of CAM for themselves. We observed that 76 (63.8%) of the oncologists used to ask their patients about CAM utilization and 37.8% described at least one reason to stimulate its use (68.8% as complementary treatment). Only 10% of the oncologists would prescribe at least one type of CAM and this attitude correlated significantly with previous physicians' use of CAM and with being a clinical oncologist as well as with having questioned patients about CAM use. Most oncologists (80.7%) would not indicate the use of CAM, mainly for lack of scientific proof of its efficacy (56.2%). Physicians knew many kinds of CAM and had frequently used some of them themselves, but only a minority of Brazilian oncologists would indicate them. As CAM use is very prevalent in our population, we believe that most of its utilization depends, probably, on patient's own and independent initiatives. However, these results should be viewed with caution because of the low response rate we observed in this study.

Aging in individuals with the FMR1 mutation.

Individuals with fragile X mental retardation 1 (FMR1) premutation (55 to 200 CGG repeats) are typically unaffected by fragile X syndrome. However, a subgroup of older males with the premutation have developed a neurological syndrome, which usually begins between 50 and 70 years and is associated with a progressive intention tremor and/or ataxia manifested by balance problems, frequent falling, and Parkinsonian symptoms, such as masked facies, intermittent resting tremor, and mild rigidity. This finding has been termed the fragile X-associated tremor/ataxia syndrome (FXTAS) and has brought focus to the aging process in individuals with the FMR1 mutation. The premutation is associated with elevated messenger RNA levels leading to the formation of intranuclear inclusions in neurons and astrocytes associated with FXTAS. This review is a summary of our experience with FXTAS in male carriers of the premutation.

[Prenatal diagnosis of isolated posterior fossa anomalies: attempt at a simplified approach]. / Diagnostic anténatal des anomalies isolées de la fosse postérieure: tentative d'approche simplifiée.

The authors suggest, after some embryological, anatomical and nosological reviews, a simplified approach mainly based on the appearance of the pons, cerebellar hemispheres and vermis, independently from an associated cystic dilatation of the posterior fossa. Pontocerebellar hypoplasias and partial or total vermian agenesis are detailed because they can be diagnosed with a prenatal MRI. This classification based on our experience and on the literature data should be of value to evaluate the neurological prognosis.

Effects of 5-fluorouracil on cell cycle arrest and toxicity induced by X-irradiation in normal mammalian cells.

UNLABELLED: From clinical studies in cancer patients and experimental in vitro studies, there is evidence of an increased cytotoxic effect, and even synergy, when irradiation is combined with 5-fluorouracil (5-FU). The mechanism for this is unclear. MATERIALS AND METHODS: Mouse fetuses (C3H) have been exposed in vivo to X-irradiation and 5-fluorouracil (5-FU) as single agents or in combination. Cell proliferation, cell cycle progression, fetal survival and incidence of fetal malformations have been studied. PURPOSE: The aim of this study was to determine possible synergistic cytotoxic effects when 5-FU and ionizing radiation were combined, particularly concerning the regulation of cell cycle progression in proliferating, non malignant mammalian cells in vivo. RESULTS: The combination of low-toxic doses of X-irradiation and 5-FU had a synergistic toxic effect in nonmalignant mouse fetuses in vivo. The cell cycle regulation was perturbed and the radiation-induced G2-arrest was eradicated by 5-FU during the initial hours. CONCLUSIONS: The time for repair of radiation induced DNA-damage is probably reduced, which may explain the increased toxicity of this combination.

[Quality registry for better treatment of rectal cancer established. Economical support is required to use the benefits of the information]. / Kvalitetsregister etablerat för bättre rektalcancerbehandling. Nu krävs ekonomiskt stöd för att informationen skall komma till nytta.

The treatment of rectal cancer has changed significantly during the last 30 years. With improved surgical technique and the introduction of preoperative radiotherapy sphincter preserving surgery is now predominant and the rate of local recurrence has been reduced substantially. However, new therapy concepts may also introduce an increased risk of complications. A register to monitor quality control in rectal cancer treatment in Sweden was established in 1995. It covers over 95 per cent of the patients with rectal cancer reported to the Swedish National Cancer Registry. Collection of data and validation are done by six regional oncology centres under supervision of surgeons appointed by the hospitals involved. The results are then collated to a nationwide quality register, enabling regions to compare themselves with other regions, and hospitals with other hospitals.

Alteration of cellular mediated cytotoxicity, T cell receptor zeta (TcR zeta) and apoptosis related gene expression in nasopharyngeal carcinoma (NPC) patients: possible clinical relevance.

We have investigated apoptosis related gene expression in tumour cells, phenotype and function of blood mononuclear cells at diagnosis in relation to clinical response in three patients with nasopharyngeal carcinoma (NPC). We have focused our study on the Epstein Barr virus latent membrane protein-1 (LMP-1) and Bcl-2 expression in the tumour cells, the essential signal-transducing zeta molecule of T cell receptor (TcR zeta) and cellular mediated cytolysis of the blood mononuclear cells. The carcinoma cells of the patients were Bcl-2 negative. They were heterogeneous with regard to the expression of LMP-1 and the number of proliferating or apoptotic cells. Decrease in the expression of mature T cells (CD3, CD4, and CD8), TcR zeta and cellular mediated cytotoxicity was detected in blood mononuclear cells of the patients. IL-2 up-regulated these phenotypes and the cytolytic capacity of the blood mononuclear cells. The patient with LMP-1 negative carcinoma cells, down-regulated TcR zeta expression and impaired IL-2 mediated cytolysis, had the worst clinical outcome. Another patient with low apoptotic, highly proliferating and LMP-1 positive carcinoma cells had recurrent disease only in the irradiated area. Interestingly, NPC with high apoptotic and few LMP-1 expressing cells was detected in the patient with a normal level of TcR zeta expression and cytolytic functions in blood mononuclear cells at the time of diagnosis. After combination treatment with chemotherapy followed by radiotherapy, this patient is still alive with complete remission and disease-free at 36 months. Suppression of the immunological functions may occur in NPC patients. Our study suggests that the immunological functions and apoptosis related gene expression in the carcinoma cells may be used as prognostic factors and help in the decision of therapy of patients with nasopharyngeal cancer.

[Intra-osseus gas formation in osteomyelitis of vertebrae and pelvis by Klebsiella pneumoniae]. / Intra-ossale gasvorming bij osteomyelitis van wervels en bekken door Klebsiella pneumoniae.

A 59-year-old woman had persistent sepsis after abdominal operations because of a volvulus and subsequently a retroperitoneal abscess, in spite of antibiotic treatment against Klebsiella pneumoniae, which grew in blood cultures. During abscess drainage, a haemorrhage from the infrarenal part of the aorta had occurred; in view of a presumed aortitis this part had been replaced by a bifemoral bypass. Computer tomography revealed intraosseous formation of gas in vertebrae and pelvis. At operation, abscesses were drained and necrotomy and sequestrotomy of the bone were performed. Cultures of the pus from the iliac crests showed K. pneumoniae. The antibiotic management was changed; the wounds were flushed regularly. After exposure of the wounds still draining after 6 months and vascular surgery because of occlusion of the bypass after 7 months, the patient recovered well. She died 2 years later from a cerebral haemorrhage.

Aspects on reducing gastrointestinal adverse effects associated with radiotherapy.

Patients receiving cancer therapy are afflicted with a diversity of side effects. Radiotherapy for cancer affecting the head and neck, oesophagus and pelvis is associated with a marked toxicity, specifically encountered as mucosal toxicity. Pain and diarrhoea as well as nausea and vomiting are the most common symptoms, with subsequent problems such as malnutrition and decreased quality of life. These side effects need to be reduced if we are to optimize radiotherapy and to cure patients. Because there is no straightforward way of obviating these side effects, every effort to prevent aggravation and to induce healing of mucosal changes is of prime importance. Numerous agents including antimicrobials, local and systemic analgesics, anti-inflammatory drugs, anti-diarrhoeal drugs, and mucosal protectors alone or in combination with dietetic care have been used and/or are under evaluation in order to palliate the symptoms and increase the quality of life for the patients subjected to radiotherapy. In this article we summarize some aspects within the field that were discussed at the Annual Meeting of the Swedish Society for Oncology in Gavle, 1997.

Occupational exposures and squamous cell carcinoma of the oral cavity, pharynx, larynx, and oesophagus: a case-control study in Sweden.

OBJECTIVES: This community based case-referent study was initiated to investigate aetiological factors for squamous cell carcinoma of the upper gastrointestinal tract. METHODS: The study was based on all Swedish men aged 40-79 living in two regions of Sweden during 1988-90. Within that base, efforts were made to identify all incident cases of squamous cell carcinoma of the oral cavity, oropharynx and hypopharynx, larynx, and oesophagus. Referents were selected as a stratified (age, region) random sample of the base. The response was 90% among cases and 85% among referents. There were 545 cases and 641 referents in the final study group. The study subjects were interviewed about several lifestyle factors and a life history of occupations and work tasks. The exposure to 17 specific agents were coded by an occupational hygienist. The relative risk (RR) of cancer was calculated by logistic regression, standardising for age, geographical region, and alcohol and tobacco consumption. RESULTS: Exposure to asbestos was associated with an increased risk of laryngeal cancer, and a dose-response relation was present. The RR was 1.8 (95% confidence interval (95% CI) 1.1 to 3.0) in the highest exposure group. More than eight years of exposure to welding fumes was associated with an increased risk of pharyngeal cancer (RR 2.3 (1.1 to 4.7)), and laryngeal cancer (RR 2.0 (1.0 to 3.7)). There were indications of a dose-response for duration of exposure. Associations were also found for high exposure to polycyclic aromatic hydrocarbons (PAHs) and oesophageal cancer, RR 1.9 (1.1 to 3.2). Exposure to wood dust was associated with a decreased risk of cancer at the studied sites. CONCLUSIONS: Some of the present findings confirm known or suspected associations--such as asbestos and laryngeal cancer. The study indicates that welding may cause an increased risk of pharyngeal as well as laryngeal cancer. The findings corroborate an association between exposure to PAHs and oesophageal cancer.

[Agenesis of the corpus callosum. Neuropathologic study and physiopathologic hypotheses]. / Agénésies du corps calleux. Etude neuropathologique et hypothèses physiopathologiques.

The neuropathological study of corpus callosum agenesis requires a two-phase approach: first it should analyze the putative causal factors, i.e. absence of callosal neurons, commissuration inability or synapse remodelling defect; secondly it has to detect any morphogenetic effects stemming from the absence of commissure such as nonregression of archicortical structures, ventricular enlargement or possible invasion of the remaining telencephaplic commissure by callosal neurons. Absence of callosal neurons due to abnormal corticogenesis gives rise to corpus callosum agenesis without callosal axon, that is without Probst's bundles. Conversely, corpus callosum agenesis occurring secondary to a commissuration default is associated with the presence of callosal axons which travel along the midline instead of crossing, that leads to the formation of Probst's bundles. This inability to cross the midline could be secondary to an obstacle, such as lipoma or as interhemispheric cysts, or primitive due to axonal guidance disturbance. In the latter situation, the commissural defect could affect the other cerebral commissures i.e. anterior or hippocampal commissures, or could become integrated into a more diffuse midline pathology involving both cerebral and extracerebral structures. Finally, it could be assumed that a synapse remodelling defect could lead to atrophy or hypertrophy of the commissure, that occurs in the absence of white matter pathology.