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

Ten unselected African patients infected with human immunodeficiency virus (HIV) and with slim disease were evaluated using physical examination, anthropometric measurements, Karnovsky performance score, and muscle biopsy. All had marked weight loss (36.8 +/- 10.8%) with extreme fatigue, marked diffuse wasting with significantly decreased circumferences of arms, thighs and calves (P < or = 0.002), and a low Karnovsky performance score (range 30-70). Mild to moderate motor deficit (in 9/10 patients) contrasted with the major amyotrophy. Chronic diarrhoea (in 7/10) and/or prolonged fever (in 7/10) were always associated with the amyotrophy. Atrophy of muscle fibers was the main finding of muscle biopsy. Only 5 patients met the CDC criteria for the 'HIV wasting syndrome'. We conclude that slim disease, which is highly suggestive of the acquired immune deficiency syndrome (AIDS) in Africa, is a condition associated with chronic diarrhoea and/or prolonged fever, that encompasses the 'HIV wasting syndrome' sensu stricto and probably other debilitating diseases associated with AIDS, such as tuberculosis.
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PMID:The slim disease in African patients with AIDS. 141 62

In 5 acquired-immunodeficiency syndrome (AIDS) cases without peripheral neuropathy, we observed myogen clinical signs (diffuse amyotrophy of lower limbs or cramps) or an isolated increase in seric enzyme (LDH, CK). EMG abnormalities were observed in all cases: spontaneous activities (fibrillations and positive sharp waves) in 5 cases, myogenic signs in 2 case. Muscular biopsies were normal in 3 cases and showed myopathic changes in 1 case and polymyositis in another case. Antidystrophin and antilaminin antibodies reactions were altered in 1 case. The spontaneous activities together with these modifications could be in favour of a lesion at the membrane level.
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PMID:[Electromyographic, histoenzymologic and immunocytochemical aspects of affected muscles in HIV infection. Observations of five cases]. 158 2

A slow influenzal congenital infection of man (in a child aged 2.5 years) is described for the first time. The infection manifests itself by encephalomyelopathy (retarded psychomotor development, sluggish spinal pareses of the limbs) and resembles Werdnig-Hoffmann amyotrophy. Besides, one can ses neuroendocrine disorders (hypophyseal nanism, hypogonadism ) and the signs of immunodeficiency. The long-term persistence of influenza A virus, its defective form was detected in the blood and CSF by means of molecular hybridization. In addition, the summarized data on the clinical studies of congenital influenzal injuries to the CNS in children, carried out by the author are provided. The theoretical evidence for the work was experimental slow influenzal infection in mice obtained for the first time at the N.F.Gamaleia Institute of Epidemiology and Microbiology (Moscow).
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PMID:[Congenital encephalomyelopathy as a possible slow infection in humans]. 164 19

A patient with acquired immune deficiency syndrome (AIDS) developed a progressive neuromuscular disorder which included a sensory component, severe weakness and muscle wasting, and fasciculations. At autopsy, there was evidence of severe peripheral neuropathy, as well as widespread cytomegalovirus (CMV) infection within the central and peripheral nervous system. Although the anterior horn cell complement within the spinal cord appeared normal, there was also evidence of human immunodeficiency virus (HIV)-like immunoreactivity of rare anterior horn cells, as judged by immunohistochemical staining. This patient illustrates the complexity of pathogenetic mechanisms operative in AIDS patients with neuromuscular disease, and suggests that at least some examples of neuromuscular disease in patients with this syndrome may be related to widespread CMV infection of the peripheral nerve (including microvascular endothelial cells) and, more rarely, direct HIV infection of some anterior horn cells.
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PMID:Severe neuropathy in a patient with acquired immune deficiency syndrome (AIDS). Evidence for widespread cytomegalovirus infection of peripheral nerve and human immunodeficiency virus-like immunoreactivity of anterior horn cells. 255 84

Recently, a new syndrome of early onset cerebellar ataxia with hypoalbuminemia (EOCA-HA) was reported in Japan. The clinical features of EOCA-HA overlap with those of Friedreich's ataxia (FA), and primary hypoalbuminemia is a characteristic laboratory finding of this syndrome. Genetic linkage analysis of EOCA-HA including this newly reported family revealed that the gene for EOCA-HA is located on the long arm of chromosome 9 as FA. However, several recombination events were observed between D9S15 in EOCA-HA, whereas no recombination events were seen in FA. We report on two siblings with EOCA-HA and discuss the clinical and laboratory features. The patients were a 25-year-old man (patient 1) and a 23-year-old man (patient 2). Their parents marriage was non-consanguineous. The mode of inheritance is compatible with autosomal recessive mode. Clinically, they showed cerebellar ataxia as the initial symptom in the late infantile period and subsequently showed choreoathetosis and ocular motor apraxia at the age of approximately fifteen years. Deep tendon reflexes were reduced in late infancy and finally disappeared. Amyotrophy and sensory impairment of the legs developed at approximately twenty. Abnormal electrocardiogram and diabetes mellitus were not observed. On X-ray CT scan or MRI, the cerebella of both patients were mildly atrophic. Clinical features in these siblings were indistinguishable from those of ataxia telangiectasia, but immunodeficiency syndrome was absent.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Siblings of early onset cerebellar ataxia with hypoalbuminemia]. 778 Dec 24

To determine the effects of hemophilia and human immunodeficiency virus (HIV) infection on the nervous system, the authors examined the relationship of brain magnetic resonance imaging (MRI) findings to immunologic function and neurologic examination findings. Baseline examinations included physical and neurologic examination, immunologic and virologic testing, and MRI of the brain. On neurologic examination, muscle atrophy was considered to be related to hemophilia if adjacent joints had arthropathy due to bleeding. Muscle atrophy was considered non-hemophilia-related if unrelated to arthropathy or if muscle atrophy was diffuse. Subjects were boys aged 6 to 19 years, enrolled in a multicenter study of the effects of hemophilia and HIV infection on growth and development, all with congenital coagulopathies requiring factor infusions. Three hundred ten subjects had complete data including neurologic examination, T-cell subsets, HIV antibodies, and MRI. Subjects with HIV infection whose CD4+ counts were < 200/microL were compared with subjects with HIV infection and CD4+ counts > or = 200/microL and with HIV-negative subjects, all of whom had CD4+ counts > 200/microL. MRI studies were normal in 230. Abnormal MRI studies were more frequent in HIV-positive subjects with CD4+ counts < 200 (29.4% abnormal compared with 17% in HIV-positive subjects with CD4+ counts > or = 200 and 15.3% in HIV-negative subjects). Diffuse atrophy accounted for most of the excess abnormalities in HIV-positive subjects with CD4+ counts < 200 (77.3% of abnormal scans). Diffuse atrophy on MRI was associated with decreased muscle bulk on neurologic examination, but not with abnormal tendon reflexes.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Effects of human immunodeficiency virus and immune status on magnetic resonance imaging of the brain in hemophilic subjects: results from the hemophilia growth and development study. 809 34

Dysregulation of apoptosis can result in inappropriate suppression of cell death, as occurs in the development of some cancers, or in failure to control the extent of cell death, as is believed to occur in acquired immunodeficiency and certain neurodegenerative disorders, such as spinal muscular atrophy (SMA). Recently, we isolated a candidate gene, encoding neuronal apoptosis inhibitor protein (NAIP), for SMA. This gene is homologous to two baculovirus inhibitor of apoptosis proteins (Cp-IAP and Op-IAP) and is partly deleted in individuals with type I SMA. A second SMA candidate gene encoding survival motor neuron (SMN), which is contiguous with the NAIP locus on 5q13.1, was also reported. Here we demonstrate a NAIP-mediated inhibition of apoptosis induced by a variety of signals, and have identified three additional human complementary DNAs and a Drosophila melanogaster sequence that are also homologous to the baculovirus IAPs. The four open reading frames (ORFs) possess three baculoviral inhibition of apoptosis protein repeat (BIR) domains and a carboxy-terminal RING zinc-finger. The human iap genes have a distinct but overlapping pattern of expression in fetal and adult tissues. These proteins significantly increase the number of known apoptotic suppressors.
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PMID:Suppression of apoptosis in mammalian cells by NAIP and a related family of IAP genes. 855 91

Malnutrition, skeletal muscle wasting, and changes in cardiac muscle mass and function have been described in children infected with the human immunodeficiency virus (HIV). This report analyzes the relation of nutritional status to cardiac muscle mass and function in HIV-infected children. Thirty-six children with symptomatic HIV infection underwent simultaneous anthropometric and echocardiographic evaluations before antiretroviral therapy or supplemental feedings. Nutritional measurements included weight, height, triceps skinfold thickness, and arm muscle circumference. Cardiac measurements included left ventricular mass, contractility, end-diastolic dimension, fractional shortening, blood pressure, and heart rate. In a cross-sectional analysis, children infected with HIV were significantly below age-adjusted standards for height (P = 0.0001), weight (P = 0.0001), triceps skinfold thickness (P = 0.001), and arm muscle circumference (P = 0.04). Left ventricular mass normalized to body surface area was below standard, but contractility was normal. Correlation analyses found an inverse relation between left ventricular mass and weight z score (r = -0.45, P = 0.01), height z score (r = -0.47, P = 0.006), and arm muscle circumference percentile (r = -0.51, P = 0.003). An inverse relation was also found between heart rate and weight z score (r = -0.47, P = 0.007) and arm muscle circumference percentile (r = -0.46, P = 0.007). In malnourished children with HIV infection, a paradoxical relation exists between nutritional status and cardiac muscle mass. The inverse relation between heart rate and nutritional status may suggest altered metabolic rates with possible increased sympathetic tone.
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PMID:Nutritional status and cardiac mass and function in children infected with the human immunodeficiency virus. 928 Jan 89

We have constructed transgenic (Tg) mice expressing the entire human immunodeficiency virus type 1 (HIV-1) coding sequences in cells targeted by HIV-1 infection in humans. These Tg mice developed a severe AIDS-like disease leading to early death (< 1 month). They developed muscle wasting, severe atrophy and fibrosis of lymphoid organs, tubulointerstitial nephritis, and lymphoid interstitial pneumonitis. In addition the expression of RANTES was increased in various tissues of these Tg mice relative to that in the normal controls. Disease appearance was correlated with the levels of transgene expression. The numerous pathologies observed in these mice are remarkably similar to those observed in human AIDS and, more specifically, in pediatric AIDS.
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PMID:Transgenic mice expressing human immunodeficiency virus type 1 in immune cells develop a severe AIDS-like disease. 942 Feb 7

Although human retroviruses seem plausible agents of motor neuron diseases, there are only few reports of patients infected by the human immunodeficiency virus, with documented motor neuron disorder. That retroviral infections may cause motor neuron pathology by various mechanisms in animals and humans is known. Neurological symptoms potentially attributed to damage of lower motor neurons are often described during the course of HIV-1 infection and AIDS, however, it is often difficult to establish whether the disorder is primarily affecting the perikarya of lower motor neurons, or whether it is due to a focal proximal axonopathy, or to a dying-back process. We report a 30-year-old heroin abuser, HIV-1 positive, who presented a rapidly progressive limb weakness, muscle wasting, and bulbar signs, in absence of sensory loss of cerebellar and pyramidal signs. Imaging studies were negative. CSF showed increased protein content, negative cytology, and no oligoclonal bands. Serum protein electrophoresis, urinary heavy metal, and viral researches were negative. CD4 cells were counted 340 mm3 with a CD4-CD8 ratio equal to 0.4. Electrophysiology showed acute and chronic neurogenic changes, confirmed by muscle biopsy. Conduction studies along motor and sensory nerves fell within normal range. Biopsy of sural nerve revealed mild myelinated and unmyelinated fiber loss, occasional degeneration and regeneration, unremarkable inflammation. Despite treatment with AZT, zalcitabine, and steroids, the patient died after 3-month illness. Neuropathology showed normal cortical cell Betz's, and hemispheric white matter. Brain stem motor nuclei (inferior olival, dorsal motor of the vagus, hypoglossal) showed atrophy and intracytoplasmatic lipofuscin accumulation. Vacuolization, central chromatolysis, and neuronophagia were rarely seen. As associated pathology, in the fourth ventricle there were two small subependymal foci of demyelination, with reactive astrocytes and vascular proliferation. A possible crucial role of the HIV-1 infection in the development and progression of our patient's illness is considered in view of the known altered immunity proved in MND and ALS cases.
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PMID:Motor neuron disease and HIV-1 infection in a 30-year-old HIV-positive heroin abuser: a causal relationship? 962 4


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