Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0277787 (stigma)
 13,352 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Six cases of unusual neuroenteric (NE) cysts, occurring in children aged 15 months to 18 years, are reported here. Three of the cysts were extramedullary, while the other three were intramedullary. Two of the extramedullary cysts were located at the lumbosacral region, an unusual site. Only one patient had the cyst located in a ventral relation to the cord in the cervicothoracic region. None of the patients had communication with the mediastinum or intraabdominal viscera. Stigmata of spinal dysraphism were seen in three patients. All the children had variable neurological involvement and it was difficult to differentiate NE cyst from other causes of spinal cord or cauda equina lesion, particularly in the absence of some dysraphic marker. One patient presented with minimal neurological deficits and painful torticollis; this patient was suspected to have an atlantoaxial dislocation. All patients were investigated with MRI, and the only diagnostic feature of an NE cyst was an intradural cyst with an anterior vertebral body anomaly in a single case. It was not possible to radiologically differentiate NE cyst from other intraspinal cysts in the rest of the patients. All patients were operated on by the posterior route; an attempt to excise the cyst nearly in toto was made. Evidence of neural tethering most probably due to cyst contents was seen in three patients. All patients improved after surgery. None showed recurrence of the cyst at follow-up of 3 months to 2 years.
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PMID:Unusual neuroenteric cysts: diagnosis and management. 1242 47

The data on sociocultural, demographic, and psychosocial aspects and types of treatment strategies adopted by families of patients with epilepsy in northwestern India were collected by the interview schedule method from 400 patients (200 idiopathic and 200 symptomatic) at the outpatient department of the Neurology and Epilepsy Clinic of the Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India. Epilepsy was classified as idiopathic or symptomatic on the basis of clinical tests (EEG, CT scan, and MRI). It was observed that socioeconomic factors had no bearing on epilepsy in the present sample. Early onset, that is, before 20 years of age, reduced the chances of patients' finding a spouse among those who disclosed the disease information, thereby impacting the nuptial and fertility rates of patients with epilepsy. The present sample of patients was well informed about and sensitized to the efficacy of the modern system of medicine, as 80% of patients sought medical treatment on the very same day as or within a week of onset of seizures. The data were compatible with the framed hypothesis that well-being and safety of the patient would override the stigma burden factor, as 94% of the affected families made no attempt to hide the disease from their neighbors, friends, and colleagues, and teachers of the affected patients. Surprisingly, only 7.5% of the families admitted that they consulted a faith healer. Families did adopt some culturally prevalent methods to control involuntary movements during seizures. It can be concluded that trust in faith healers exists strongly as an undercurrent, but is not overtly admitted by the majority of patients. Some families concurrently visited modern hospitals and occult healers seeking a cure for the disease. The fear of having a child with epilepsy or other abnormalities discouraged married patients from becoming pregnant after developing epilepsy.
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PMID:Psychosocial, demographic, and treatment-seeking strategic behavior, including faith healing practices, among patients with epilepsy in northwest India. 1855 Apr 40

This investigation combined behavioral and functional neuroimaging measures to explore whether perception of pain is modulated by the target's stigmatized status and whether the target bore responsibility for that stigma. During fMRI scanning, participants were exposed to a series of short video clips featuring age-matched individuals experiencing pain who were (a) similar to the participant (healthy), (b) stigmatized but not responsible for their stigmatized condition (infected with AIDS as a result of an infected blood transfusion), or (c) stigmatized and responsible for their stigmatized condition (infected with AIDS as a result of intravenous drug use). Explicit pain and empathy ratings for the targets were obtained outside of the MRI environment, along with a variety of implicit and explicit measures of AIDS bias. Results showed that participants were significantly more sensitive to the pain of AIDS transfusion targets as compared with healthy and AIDS drug targets, as evidenced by significantly higher pain and empathy ratings during video evaluation and significantly greater hemodynamic activity in areas associated with pain processing (i.e., right anterior insula, anterior midcingulate cortex, periaqueductal gray). In contrast, significantly less activity was observed in the anterior midcingulate cortex for AIDS drug targets as compared with healthy controls. Further, behavioral differences between healthy and AIDS drug targets were moderated by the extent to which participants blamed AIDS drug individuals for their condition. Controlling for both explicit and implicit AIDS bias, the more participants blamed these targets, the less pain they attributed to them as compared with healthy controls. The present study reveals that empathic resonance is moderated early in information processing by a priori attitudes toward the target group.
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PMID:The blame game: the effect of responsibility and social stigma on empathy for pain. 1942 30

This report describes the potential of cardiac magnetic resonance imaging (cMRI) based on myocardial first-pass perfusion imaging in the visualization of cardiac manifestations in autoimmune vasculitis, which in the heart are typically localized at the level of small subendocardial vessels. Two patients with primary or secondary autoimmune vasculitis were investigated in this study. Myocardial first-pass perfusion imaging was performed using an ECG-gated T1-weighted MRI sequence after the injection of intravenous bolus of gadolinium chelate. In both cases, the cMRI showed findings of subendocardial first-pass perfusion deficit (FPPD), a phenomenon so far described as microvascular obstruction (MVO) only in patients with acute cardiac infarction due to thromboembolic obstruction of small myocardial vessels. The two patients showed local subendocardial and myocardial hypoenhancement (characterized by a darker appearance than normal myocardial tissue), which is the typical morphological stigma of FPPD initially after injection of contrast media. The perfusion deficit, although morphologically very similar to the well-known phenomenon of MVO in acute cardiac infarction, was conceivably caused by different vasculitis-specific mechanisms such as occlusion of the microvasculature with erythrocytes, neutrophils and cellular debris. This study indicates that FPPD is useful for the non-invasive assessment of the microvasculature in patients with acute cardiac involvement in primary and secondary vasculitis.
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PMID:The role of first-pass perfusion deficit in the detection of cardiac subendocardial manifestation in patients with autoimmune vasculitis. 2221 9

Low incidence of human immunodeficiency virus (HIV) infections and acquired immunodeficiency syndrome (AIDS) has been detected in Croatia so far. Toxoplasmic encephalitis (TE) is the most common opportunistic cerebral infection in AIDS patients and is highly responsive to antiparasitic chemotherapy, if treated at an early stage. We present the case of the brain biopsy confirmed as TE on a 36-year-old female patient who at admission presented with unconsciousness and a right hemiplegia. A MSCT was performed and two hypodense lesions were diagnosed. The patient's family initially denied the presence or history of any medical problem or infection. An MRI showed multiple ring-enhanced mass lesions. An infectologist required a brain biopsy to exclude cerebral lymphoma and multiple metastases. Pathohistological analysis suggested TE. Meanwhile, patient's blood samples were found to be HIV positive. The patient was transferred to University Hospital for Infectious Diseases in Zagreb, where she died 2 days following admission. The patient's family terminally confessed that the patient had been HIV positive for 10 years and had refused any treatment. Family's denial of infection as well as 'hiding information' concerning patient's health from physicians involved in her treatment caused a delay in proper on-time patient treatment. We would like to emphasize that TE must be considered as a differential diagnosis in patients presenting with multiple cerebral lesions, including patients without acknowledged past history of HIV infection. A stigma towards HIV infection and ignorance of the disease still exist and therefore hinders proper treatment.
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PMID:Difficulties with diagnosis and consequential poor outcome due to stigma of acquired immunodeficiency syndrome - a case report. 2409 Oct 82

Since its opening in 2000, patient care and research go hand in hand at the Alzheimer center of the VU University Medical Center, both organized in such a way that they mutually strengthen each other. Our mission is to give patients a voice by lifting the stigma on dementia, to find new diagnostic and treatment strategies, and, ultimately, to cure diseases that cause dementia. Our healthcare pathway is uniquely designed to accommodate all necessary investigations for the diagnostic work-up of dementia in one day (one-stop shop). A second unique feature is that research has been fully integrated in the healthcare pathway. The resulting Amsterdam Dementia Cohort now includes over 4000 patients, and for the majority of these, we have MRI, EEG, blood (serum, plasma), DNA, and CSF available. The Amsterdam Dementia Cohort forms the basis of much of our research, which focuses on four major research lines: 1) variability in manifestation, 2) early diagnosis, 3) vascular factors, and 4) interventions. By answering research questions closely related to clinical practice, the results of our research can be looped back to improve clinical work-up for our patients.
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PMID:Optimizing patient care and research: the Amsterdam Dementia Cohort. 2461 7

Glucocorticoid resistance syndrome (GRS) is a rare genetic disorder caused by inactivating mutations of the NR3C1 gene which encodes the glucocorticoid receptor. The phenotypic spectrum is broad but typically include symptoms of adrenal insufficiency, mineralocorticoid excess and hyperandrogenism. We report a new case associated with a novel NR3C1 mutation. A 55-year-old woman with lifelong history of low body weight, hyperandrogenism and anxiety was seen at the endocrine clinic after left adrenalectomy and salpingoophorectomy for lesions suspicious of ovarian cancer and adrenal metastasis. The tumors turned out to be a 3.5 cm benign ovarian serous adenofibroma and a 3.5 cm multinodular adrenal mass. She complained of worsened fatigue and inability to recover weight lost with surgery. Pre-operative serum and urinary cortisol were elevated, but she had no stigma of Cushing's syndrome. Plasma ACTH was elevated and a 1-mcg cosyntropin stimulation test was normal. Her fatigue persisted over ensuing years and ACTH-dependent hypercortisolemia remained stable. Low dose oral dexamethasone failed to suppress endogenous cortisol. A pituitary MRI was normal but revealed incidental brain aneurysms. Bone densitometry showed profound osteoporosis. On the bases of this contradictory clinical picture, glucocorticoid resistance syndrome (GRS) was suspected. Using next generation sequencing technology, a novel heterozygous pathogenic variant in the NR3C1 gene was detected. We speculate that vascular malformations and profound osteoporosis, findings associated to cortisol excess, reflect in our patient a variable tissue sensitivity to glucocorticoids. In conclusion, in patients with clinically unexpected ACTH-dependent hypercortisolemia, primary glucocorticoid resistance (GRS) should be considered.
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PMID:Glucocorticoid resistance syndrome caused by a novel NR3C1 point mutation. 3118 48