Gene/Protein Disease Symptom Drug Enzyme Compound
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In"cerebral arteriosclerosis" the diffuse sclerotic involvement of the cerebral vessels may produce acute softening of cerebral tissue. However this paper concentrates mainly on the clinical symptomatology which, in the absence of major vascular accidents, is characterized from the psychopathologic viewpoint by acute confusional states, aggressive behaviour, fluctuating loss of memory, disturbances of concentration and finally dementia. The chief neurologic symptoms are motor disturbance with short-stepping gait, stooped position of the body, pseudobulbar symptoms with dysarthric speech and disturbances of swallowing, and increased perioral reflexes. A complete case history and a thorough neurologic and psychopathologic examination are the most important factors in diagnosis, while ancillary methods are of value only for differential diagnosis. Prophylaxis and therapy (cardiotherapy, treatment of diabetes and hypertension, lowering of serum cholesterol and sedation) are discussed. In the differential diagnosis of dementia in the elderly patient consideration should be given to chronic vascular diseases, degenerative cerebral atrophies, brain tumors, low pressure hydrocephalus, progressive paralysis and some other rare brain conditions.
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PMID:[Cerebral sclerosis. Diagnostic criteria and differential diagnostic consideration in practice]. 23 20

The hypothalamus, in addition to regulating the anterior and posterior pituitary, controls water balance through thirst, regulates food ingestion and body temperature, influences consciousness, sleep, emotion and other behaviors. Much has been learned of these effects in human disease through the clinical manifestations that occur with hypothalamic lesions. This study reviews the clinical pathologic correlations that have been made in recent years showing that regions of the hypothalamus exert functions in humans that are similar to those identified in experimental animals. Clinical pathologic correlations have not always provided precise analysis of hypothalamic function. The hypothalamus is small and often lesions that come to clinical attention achieve considerable size before their recognition, making local anatomic dissections of the effects of the lesions difficult. Nevertheless, the use of modern non-invasive techniques including CT scans and magnetic resonance imaging (MRI) have provided new information not previously available. This paper reviews several cases of hypothalamic disorder recognized recently. (1) A 33-year-old black man with hypothalamic sarcoidosis. Manifestations of hypothalamic dysfunction included panhypopituitarism, aggressive hyperphagia, polydipsia (partially due to hyperglycemia secondary to diabetes mellitus), drowsiness, depression, and irritability. (2) A 37-year-old woman with a large intrahypothalamic tumor (biopsy showed pituitary adenoma), with drowsiness, poikilothermia, lack of satiety, confusion, and memory loss. She becomes depressed when she is transiently more alert (as after hypertonic contrast-dye infusion). (3) A 60-year-old man with hypothalamic compression by a pituitary tumor, associated with syndrome of inappropriate ADH (SIADH), severe anorexia, memory loss, but preserved thirst. After surgical decompression of the tumor his appetite acutely recovered, but he developed severe hypo(poikilo)thermia. (4) A 45-year-old woman with a suprasellar craniopharyngioma presented with severe drowsiness, hyperphagia, depression, and memory loss post-operatively, which responded to antidepressants (except for the memory loss). She had extremely labile blood pressures and serum Na for about 1 week post-operatively.
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PMID:Neurologic manifestations of hypothalamic disease. 148 Jul 55

Diabetes is a chronic disease; its successful management is largely dependent on the elderly individual's compliance with the treatment regimen. Teaching efforts for elderly clients with diabetes should be tailored to meet the many age-related conditions that affect learning abilities. These include prior experience with the disease, sensory perceptual changes, short-term memory loss, and lack of formal education. Orem's theory of self-care provides an appropriate framework for nurses who work with elderly diabetic clients. For these clients, nursing goals are geared toward having the older person remain as independent and healthy as possible.
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PMID:Self-care for the elderly diabetic. 229 28

Lipemic plasma with marked elevations of plasma triglyceride levels (3221 +/- 1590 mg/dl) and fasting chylomicronemia was observed in nine patients with uncontrolled non-insulin-dependent diabetes mellitus. Every case had hypertriglyceridemic relatives, suggesting that the very high triglyceride values seen resulted from the coexistence of diabetes with a familial form of hypertriglyceridemia. A number of clinical and biochemical features observed in the diabetic patients and also in a group of nondiabetic controls with comparable degrees of hypertriglyceridemia suggests that these manifestations are related to high plasma triglyceride levels rather than to the diabetes per se. Chronic abdominal pain, mental confusion, and memory loss improved with lipid-lowering therapy and clearing the plasma of chylomicrons. Pulmonary function tests, red cell 2,3-diphosphoglycerate, and hemoglobin oxygen affinity were normal; the mild hypoxemia observed is believed to be an artifact. It is suggested that a syndrome due to chylomicronemia can occur in uncontrolled non-insulin-dependent diabetic patients, who in addition have a familial form of hypertriglyceridemia. To prevent manifestations of this syndrome in these patients, specific lipid-lowering therapy may be required in addition to control of their diabetes.
Diabetes Care
PMID:Chylomicronemia syndrome in diabetes mellitus. 734 82

Primary CNS malignancies are responsible for approximately 12,000 deaths annually in the United States. There has been little change in the outcome for adults with malignant brain tumors over the past few decades, despite improvements in surgical techniques and advances in radiation therapy. These tumors are uniformly fatal one to two years after diagnosis. The morbidity and mortality of this disease arise from the effects of a locally invasive, non-metastasizing lesion. The patients may suffer from seizures, paralysis, incoordination, aphasia, confusion, memory loss, sensory deficits or visual loss, depending on the regions of the brain affected. In addition, they usually require large doses of corticosteroids early and late in their illness, and may experience disabling side effects of this treatment, such as edema, proximal myopathy, diabetes, fungal infections or deep vein thrombosis. Few patients in the older age group are able to work after the diagnosis. Most of the patients are incapable of self-care for several months before death. The localized transfer of new genes into cancer cells potentially permits the expression of proteins with specific biologic functions that may provide a means to alter the biology of tumor growth through a variety of mechanisms including increasing tumor immunogenicity, inducing the local expression of toxic agents, and sensitization of tumors to chemotherapeutic agents. Gene therapy with the transfer of the drug susceptibility gene Herpes virus thymidine kinase (HSV-TK) has shown promise in a number of animal models, including CNS tumors. This study will evaluate the use of adenovirus-mediated transfer of the HSV-TK gene into primary human brain tumors followed by systemic treatment with ganciclovir. The goals of this phase I study are to evaluate the overall safety and efficacy of this treatment and to gain insight into the parameters that may limit the general applicability of this approach. In this phase I study, patients with recurrent gliomas will receive stereotactic-guided injections of the virus into the brain tumor, followed by intravenous ganciclovir for 14 days. Patients eligible to undergo a palliative debulking procedure will receive the same treatment followed by resection on day 7. At the time of resection a second dose of virus will be administered intra-operatively into the residual, unresectable portion of the tumor, and intravenous ganciclovir will be continued for additional 14 days. Tissue removed at the time of resection will be analyzed for evidence of adenovirus infection, thymidine kinase expression and signs of inflammation. The size and metabolic activity of all tumors will be followed by volumetric MRI scans and Position Emission Tomography Scans, respectively. Patients will be enrolled in groups of three, with each group receiving successively larger doses of adenovirus. This study will quantify the toxicity of this therapy, and provide evidence as to the duration of transgene expression and virus induced inflammation.
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PMID:Treatment of advanced CNS malignancies with the recombinant adenovirus H5.010RSVTK: a phase I trial. 884 6

We reported a case of adult-onset citrullinemia associated with hypertrigliceridemia and diabetes mellitus. A 24-year-old female was healthy until recently. She first felt intermittent headaches and nausea. Then she noticed memory loss and tiredness. Abnormal behavior such as getting lost on the way from her company sometimes occurred. She came to our hospital because these symptoms had been getting worse. Neurologically she had a very mild disturbed consciousness. An EEG recording showed diffuse slow wave with high amplitude. MR image of the brain showed hyper-intensity in globus pallidus with T1-weighted image. Plasma citrullin level was very high. Plasma ammonia and triglyceride showed a moderately high level. Using biopsied liver tissues, the enzymes of the urea cycle were analyzed. Argininosuccinate synthetase activity was extremely low. Because of clinical course and the result of liver biopsy, the patient was diagnosed as type 2 citrullinemia. A low protein diet was started, but intermittent nausea and consciousness disturbance did not improve. A partial liver transplantation was performed. The living donor was her father, a 50-year-old male, who had normal liver function. After the liver transplantation, all neurological signs soon disappeared. Plasma citrulline, ammonia and triglyceride normalized rapidly. An EEG recording became normal, and the hyper-intensity in globus pallidus with T1-weighted MR image disappeared two months after surgery. Liver transplantation should be planned as soon as possible in a type 2 citrullinemia patient.
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PMID:[Liver transplantation in type II citrullinemia]. 1065 68

Andropause seem to be less defined than menopause. This study on older patients describes how they perceive and understand this aging process. A noninterventional, cross-sectional study was performed to determine what men report as symptoms of andropause to ascertain if memory loss was a predominant feature. The hypothesis was that androgens such as testosterone are responsible for visual-spatial and memory development. As such the aging process of andropause, which is associated with declines in testosterone levels, would lead to memory loss. A standardized questionnaire of 22 questions was administered to 302 outpatients of a medical center. Information on patient demographics, understanding of andropause, and risk factors was collected. Of the 302 patients, 71% were above 60 years and whites predominated at 87%. Memory loss was reported in 36% of the patients who felt that they had experienced andropause. It was the third most common symptom after erectile dysfunction (46%) and general weakness (41%). Twenty-two percent of the 302 patients had a history of diabetes. Among those who reported that they had undergone andropause, diabetic patients were more likely to report memory loss (p = .03, OR = 1.9. CI = 1.1-3.4). Sixty-four percent of patients reported the onset of andropause to be between 50 and 70 years (the median age being 50-60 years). This study highlights the importance of testosterone in maintaining cognitive functions. It supports studies of testosterone replacement in men undergoing andropause and who have concomitant dementia. The results parallel recent reports of the neuroprotective effects of estrogens in preventing dementia. Diabetes is associated with memory loss because of the additional insults to cognitive function of the brain secondary to ischemia.
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PMID:Memory loss as a reported symptom of andropause. 1169 41

Long-term posttreatment Karnofsky Performance Status (KPS) and neurological status of 16 patients with neurohypophyseal (NH) germinomas were retrospectively analysed, in order to deduce the best treatment modality to achieve a good outcome. The average age at treatment was 15.5 years (rouge 6-26) and they were followed up for 107.3 months (26-209). The KPS averaged 81.5 (0-100). Three patients were below 60 in the KPS. The first one had hemiparesis due to a delayed cerebrovascular accident (CVA), and the second became indifferent and inactive with recent memory loss. The third died from marginal recurrence of tumour and subsequent systemic metastasis. The low scores were all more or less attributable to complications related to irradiation: delayed CVA, diffuse cortical atrophy and inappropriate selection of irradiation field, respectively. The second case had the tumour origin at the hypothalamus, which indicates intraparenchymal tumour location as another factor to worsen the quality of life (QOL). Visual field and acuity, and EOM impairment were observed in eight and five patients, respectively. It improved in all patients but one. The visual and EOM dysfunction recovered satisfactorily and was not a disabling factor. The intraparenchymal lesion resulting in hemiparesis and higher cortical dysfunction due to either irradiation-related complications or tumour invasion is a major determining factor of lower KPS. Irradiation related complications are considered to be avoidable by reducing radiation dosage with appropriate chemotherapy and/or proper selection of irradiation field. Patients with smaller tumour size of less than 20 mm had higher KPS. Accordingly, repeated studies of tumour markers and neuroimages are required in patients with idiopathic diabetes insipidis, in order to detect the tumour, if present, at the small-sized and early stage.
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PMID:Long-term Karnofsky performance status and neurological outcome in patients with neurohypophyseal germinomas. 1170 43

From ancient times, Swarnabhasma (gold ash) has been used in several clinical manifestations including loss of memory, defective eyesight, infertility, overall body weakness and incidence of early aging. Swarnabhasma has been used by Ayurvedic physicians to treat different diseases like bronchial asthma, rheumatoid arthritis, diabetes mellitus, nervous disorders, etc. In the present investigation, Swarnabhasma was prepared after proper purification and calcination as per Ayurvedic pharmacy which consisted of Realger (As(2)S(2)), Lead oxide (Pb(3)O(4)), Pure gold (Au) and Latex of Calotropis gigantea. Qualitative analyses indicated that Swarnabhasma contained not only gold but also several microelements (Fe, Al, Cu, Zn, Co, Mg, Ca, As, Pb, etc.). Infrared spectroscopy showed that the material was free from any organic compound. The metal content in the bhasma was determined by atomic absorption spectrometry. Acute oral administration of Swarnabhasma showed no mortality in mice (up to 1 ml /20 g b.w. of Swarnabhasma suspension containing 1mg of drug). Chronic administration of Swarnabhasma also showed no toxicity as judged by SGPT, SGOT, serum creatinine and serum urea level and histological studies. In an experimental animal model, chronic Swarnabhasma-treated animals showed significantly increased superoxide dismutase and catalase activity, two enzymes that reduce free radical concentrations in the body.
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PMID:Evaluation of chemical constituents and free-radical scavenging activity of Swarnabhasma (gold ash), an ayurvedic drug. 1200 4

Beri-Beri is caused by vitamin B1 (thiamine) deficiency. Thiamine is essential for carbohydrate metabolism and the generation of energy. Depending on age and calorie intake, 1-1.5mg/day are required with a 50% increase during pregnancy and lactation. Fever and increased muscular activity will also increase thiamine requirements (storage in muscles is limited, and reserves are quickly depleted). The sources of thiamine are meat, the outer layer of cereal grains and pulses, nuts, and leafy vegetables. The vitamin is lost during milling and processing and during excessive cooking. Beri-beri takes 2 forms: wet beri-beri which has a high output biventricular failure with edema associated with profound peripheral vasodilation and tachycardia (this also occurs in an acute fulminating form known as shoshin beri-beri) and dry beri-beri with symptoms of peripheral neuropathy with taxia, weakness, paraesthesia, and patchy sensory loss with areflexia. In this form, foot and/or wrist drop may occur. Thiamine deficiency can also produce Wernicke-Korsakoff psychosis characterized by vomiting, horizontal nystagmus, ophthalmoplegia, memory loss, and confabulation. Wet beri-beri is a medical emergency treated by intravenous administration of thiamine for several days. 38 patients (27 men and 11 women) were identified with beri-beri in urban Banjul in the Gambia. 14 had wet beri-beri, 11 a mixed presentation, and 13 dry beri-beri. Most of the patients were disabled for many months. Risk factors were pregnancy, alcohol consumption, fever, exercise, diabetes, and dysentery. 4 of the patients died (2 were in the last trimester of pregnancy). The staple diet in urban areas of the Gambia is imported, polished white rice in a groundnut- or oil-based sauce with fish and vegetables such as peppers, onions, and tomatoes. Meat is too expensive for the urban poor, and fruit and vegetable consumption is highly seasonal and income-dependent. There is little chance that this diet will be changed for the 46% of the population who live in urban areas. It is likely that a substantial proportion of the population has subclinical thiamine deficiency and are at risk of beri-beri. Since thiamine added to imported rice will be destroyed by traditional means of cooking, adding the vitamin to wheat flour may be an appropriate public health measure.
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PMID:Beri-beri: "Endemic amongst urban Gambians". 1231 72


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