Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0021051 (immunodeficiency)
 71,517 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

There have been few epidemiological studies of bone and joint diseases in black Africa. Available data were generated by hospital studies which were inevitably flawed by selection bias. They found that the incidence and/or severity of rheumatoid arthritis were reduced in West Africa but not in urban areas of Southern and East Africa, as compared with industrialized countries. Ankylosing spondylitis was infrequent. The human immunodeficiency virus epidemic can be expected to increase the prevalence of spondyloarthropathies despite the fact that few black Africans are HLA B27-positive. Gout was the most common inflammatory joint disease seen in inpatients in West Africa and Equatorial Africa. Osteoarthritis of the fingers or hip and dysplasia of the hip were infrequent. The main causes of hip symptoms were sickle cell anemia and hemoglobin C disease whose manifestations include bone necrosis, osteomyelitis, and attacks of bone and joint pain. Osteoarthritis of the knee was common in West and Southern Africa, especially in obese women. Low back pain and sciatica due to disc herniation were as common as in Europe. Lumbar canal stenosis appeared more common in West Africa than in Southern Africa, with a predominance in females. Postmenopausal osteoporosis was exceedingly rare. Infectious diseases were prevalent as a result of underindustrialization and defective hygiene. The paucity of rheumatologists, young mean age of the population, and scarcity of population-based studies are sources of bias which should be taken into account when interpreting the available data on rheumatological diseases in black Africa. In the future, more rigorous studies made possible by increased access to health care will provide improved insight into the semiology and epidemiology of bone and joint diseases in this area.
 ...
PMID:[Rheumatic diseases in black Africa]. 812 80

Over a period of 2 months, a 60-year-old man, a chicken breeder, experienced low back pain, lower limb weakness predominant on the right side, and urinary difficulties, leading progressively to a flaccid paraplegia with sphincter impairment. Concomitant poor cognitive performances were noted. MRI showed enlargement of the conus terminalis, with a low-intensity signal on T1-weighted images, high-intensity signal on T2-weighted images, and areas of intramedullar contrast enhancement. A biopsy of the lesion showed macrophages containing yeast cells, with PAS and Grocott staining aspects compatible with the presence of Histoplasma capsulatum (Hc). A brain MRI showed multiple localizations in the brain stem and in both hemispheres with associated edema. Disseminated histoplasmosis was confirmed by a biopsy of a sub-maxillary ganglion demonstrating a necrotic tuberculoid lymphadenitis containing yeast cells resembling Hc. Immune tests disclosed the presence of HTLV1 anti-bodies without immunodeficiency nor HIV co-infection. An anti-micotic treatment was started 2 weeks after surgery, with intra-venous amphotericin B, for 21 days, followed by itraconazole, orally for 90 days. Cognitive functions improved significantly in 5 weeks while paraplegia and sphincter impairment remained unchanged. Seven months later, cerebral MR aspects dramatically improved while the conus medullaris lesion diminished, and the edematous component disappeared in all areas. Even though histoplasmosis is endemic in our region, CNS localization is rare, generally in disseminated forms associated with immunodeficiency. Brain granulomas are well-known, but spinal cord histoplasmomas are exceptional: only four cases have been evaluated by MRI. Unlike our case, spinal cord forms generally improve, due to surgery associated with antifungus medication, or sometimes due to specific medical treatment alone but with sufficient dosage.
 ...
PMID:[Spinal cord histoplasmoma. A case report]. 1197 51

Research on mindfulness-based interventions (MBIs) for treating symptoms of a wide range of medical conditions has proliferated in recent decades. Mindfulness is the cultivation of nonjudgmental awareness in the present moment. It is both a practice and a way of being in the world. Mindfulness is purposefully cultivated in a range of structured interventions, the most popular of which is mindfulness-based stress reduction (MBSR), followed by mindfulness-based cognitive therapy (MBCT). This paper begins with a discussion of the phenomenological experience of coping with a chronic and potentially life-threatening illness, followed by a theoretical discussion of the application of mindfulness in these situations. The literature evaluating MBIs within medical conditions is then comprehensively reviewed, applying a levels of evidence rating framework within each major condition. The bulk of the research looked at diagnoses of cancer, pain conditions (chronic pain, low back pain, fibromyalgia, and rheumatoid arthritis), cardiovascular disease, diabetes, human immunodeficiency virus (HIV)/acquired immune deficiency syndrome (AIDS), and irritable bowel syndrome. Most outcomes assessed are psychological in nature and show substantial benefit, although some physical and disease-related parameters have also been evaluated. The field would benefit from more adequately powered randomized controlled trials utilizing active comparison groups and assessing the moderating role of patient characteristics and program "dose" in determining outcomes.
 ...
PMID:Mindfulness-based interventions for physical conditions: a narrative review evaluating levels of evidence. 2376 68

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare monogenic primary immunodeficiency due to mutations of FOXP3, a master transcription factor of regulatory T cells (Treg). IPEX syndrome leads to fatal course in most cases during early childhood or severe multi-organ immune-mediated disorders in patients who survive. Currently hematopoietic stem cell transplantation represents the only known effective cure for IPEX syndrome. However, older patients with a mild disease not severe enough to justify transplantation, raise concerns regarding the appropriate therapeutic management, which is therefore based on supportive and replacement therapies combined with pharmacological immunosuppression. Herein, we report the case of a 22-year-old man with an incomplete IPEX syndrome without endocrine disorders having suffered from severe enteropathy since his birth treated with a combination of various immunosuppressant agents. He developed severe exacerbation of inflammatory low back pain in relation to sacroiliitis. Eventually, infliximab was initiated to control his back pain with rapid resolution as well as digestive improvement and also reduced biological inflammatory markers. In parallel, flow cytometry analysis revealed an increase in the frequency of circulating FOXP3+ CD4+ Treg cells. Altogether these data highlight that anti-TNF may represent a promising therapeutic option in patients with IPEX syndrome.
 ...
PMID:Infliximab induces clinical resolution of sacroiliitis that coincides with increased circulating FOXP3+ T cells in a patient with IPEX syndrome. 3243 64