Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018681 (headache)
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Three cases of diencephalic syndrome, associated with brain tumors, are reported in this paper. Case 1. A 2-2/12-year old boy was initially admitted to our hospital because of failure to thrive which began at the age of three months. Physical examination revealed emaciation (weight, 7.8 kg), irritability and pallor without anemia. Horizontal nystagmus was seen. Laboratory studies were normal except for abnormally high plasma growth hormone (p-GH) which was incompletely suppressed by hyperglycemia (induced by glucose) and was not elevated by hypoglycemia (induced by insulin). A low grade astrocytoma of the optic nerve compression the hypothalamus was partially removed. After the operation followed by irradiation, p-GH returned to normal both in its basal level and in its reaction to insulin loading, then his gain of weight was accelerated. He was readmitted, however, at the age of 6 8/12 years with headache and vomiting. Since subtotal removal of the recurrent tumor and irradiation, preoperative symptoms have disappeared up to the present (7 9/12 years old). Case 2. A 3-9/12-year old girl was initially admitted because of failure to thrive since the age of 2 years. Examination on admission revealed emaciation (10.5 kg), irritability and right hemiparesis. Laboratory studies were normal except for high serum cholesterol (290 mg/dl). (p-HG was not measured) The patient had been well after the subtotal removal of the hypothalamic astrocytoma except occasional headache until the age of 6 years. She was readmitted at the age of 9 years with progressive emaciation.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Diencephalic syndrome--report of three cases]. 671 44

A toxico-allergo-asthenic syndrome, primarily detected as a group disease (16 cases) affecting the workers of a cattle-ranch with the record of halproviosis (chlamydiosis) of agricultural animals, is described. A rise in temperature, sickness, vomiting, headache, loss of appetite, pain in the jaws and the joints, conjunctivitis and episcleritis, frequent urination, weakness, irritability, emaciation appeared to be its most characteristic symptoms. The halprovial nature of this syndrome was revealed on the basis of differential clinico-laboratory studies, serological, epizootic and epidemiological data.
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PMID:[Clinico-serologic study of humans with diseases epidemiologically related to halprowiosis (chlamydiosis) of farm animals]. 700 94

A 37-year-old woman with complaints of headache and nausea presented with temporary disturbance of consciousness, bulbar palsy and ataxic speech following flu-like symptoms. After the recovery of her consciousness, she developed orthostatic syncope and numbness all over the body. When she was admitted to our hospital two months later, she showed emaciation, diminished sweat production and butterfly-patch-like pigmentation. Neurologic examinations were remarkable for anisocoric pupils that sluggishly reacted to light, impaired left facial movements, bulbar palsy, numbness of the whole body, total loss of all tendon reflexes, incordination, ataxic gait and severe postural hypotension. Laboratory data included albuminocytogenic dissociation in cerebrospinal fluid, convergence nystagmus and dysmetria in electronystagmography, and right trigeminal paralysis in blink reflex. A sural nerve biopsy showed active axonal degeneration and severe loss of both myelinated and unmyelinated fibers. Examinations of autonomic nervous system disclosed diffuse impairment of sympathetic and parasympathetic postganglionic nerve. Based on these findings she was diagnosed as having acute pandysautonomia. High titer of serum EB virus antibody suggested that acute pandysautonomia and diffuse brainstem impairment may be related to EB virus infection.
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PMID:[A case of acute pandysautonomia and diffuse brain stem impairment associated with EB virus infection]. 772 95

Cryptococcus neoformans affections during HIV-infection are frequent and serious. The aim of this study was to analyse the epidemiological, clinical, biological and therapeutic characteristics of cryptococcal meningitis in HIV-positive patients, admitted into the Center for Tropical Diseases Ho Chi Minh City (Vietnam), during a 5-month period (May-September 2001). Twenty-one patients (20 men and one woman) were included (identification of C. neoformans from the cerebrospinal fluid). The mean age was 28 years. The majority of patients had been living in Ho Chi Minh City (48%). The use of drugs and unprotected sexual relations were the principal risk factors of HIV-infection. The paucity and the confusion of clinical signs and symptoms, along with a high frequency of meningitis have been analysed. Clinical presentation features included: headache (95%), emaciation (90%), oro-pharyngeal candidiasis (90%), stiff neck (80%), nausea/vomiting (70%), fever (67%), coughing (38%), diarrhoea (33%), skin lesions (5%), convulsion (5%), photophobia (5%), and hemiparesis (5%). The severity of the prognosis was mainly linked to the delay before hospitalization, to the possible association with other opportunistic infections, and to the availability of appropriate treatment.
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PMID:[Cryptococosis and HIV/AIDS: a review of 21 cases reported in the Tropical Diseases Centre, Ho Chi Minh City (Vietnam)]. 1504 39

Infection disease due to Listeria monocytogenes, which is a ubiquitous positive Gram bacillus to the essentially alimentary transmission, listeriosis happens on patients presenting an immunodeficiency. The authors report the two first cases of listeriosis diagnosed at Hopital Principal de Dakar. The first case was observed on a 73 years old man, hospitalised for a feverish coma scored at 9 using Glasgow scale, with neither meningitis syndrome, nor sign of neurological localisation. The analysis of the RLC reveals a hypercytosis at 126 GB/mm3, with prevailing neutrophile polynuclears, a hyperproteinorachia at 3.2 g/l. The culture of the RLC was sterile but the blood culture showed the presence of L. monocytogenes. The other paraclinical tests has revealed a glycaemia at 2.45 g/l, an imporant hepatic cytolisis with ASAT at 13 N and ALAT at 20 N. The patient was also presenting a cerebromeningitis and hepatic listeriosis on a diabetic field. The second case was observed on a 58 years old patient admitted for headaches, fever and an important degradation of the general state with an emaciation of 17 kg in 5 months. The physical screening revealed a bad general state, a fever at 38 degrees 2 and was without other particularity. The analysis of the RLC showed a hyperproteinorachia at 1.35 g/l with neither hypercytosis nor germ at the culture. Haemoculture isolated Listeria monocytogenes. HIV serology was positive. CD4 were counted to 61/mm3. and the viral charge was at 110.000 copies / mm3. The patient was presenting a Listeria monocytogenes at meningo-encephalitis on HIV-1 field. stade B of the CDC classification. This ubiquitous anthropozoonosis should be searched through early haemocultures before antibiotherapy. in case of long lasting fever, endocarditis, meningo-encephalitis, localised infections on children. pregnant women, diabetic persons, and people infected with HIV and some others presenting immunity troubles.
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PMID:[Listeria disease. The first 2 cases reported at the Principal Hospital of Dakar]. 1577 52

We report herein the case of a 28-year-old man presenting with hyperglycemic chorea-ballism (HCB) in addition to mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). He was admitted to a local hospital due to weight loss, general fatigue and thirst. The patient had diabetes mellitus, with a blood glucose level of 738 mg/dl and HbA1c of 19.8%. Although insulin therapy improved hyperglycemia, he noticed involuntary movements in the right upper and lower limbs, which subsequently extended to the left side. The patient was thus transferred to our hospital. He displayed short stature (154 cm) and emaciation, and a maternal family history of diabetes mellitus was elicited. He had no history of stroke-like episode, headache, vomiting and seizure. Neurological examination revealed low intelligence (IQ 57), mild sensorineural deafness, and chorea-ballism in the extremities and head without ptosis or eye movement disturbance. Brain computed tomography (CT) demonstrated areas of high density, while T1-weighted magnetic resonance imaging (MRI) revealed extreme hyperintensity and T2-weighted MRI showed hyperintensity in bilateral caudate nuclei, putamina and globi pallidus. HCB was diagnosed. In, CSF, lactate level was increased to 43.9 mg/dl (n, 4-16), pyruvate level was 1.65 mg/dl (n, 0.3-0.9) and total protein concentration was 59 mg/dl. Histological examination of a biopsy sample from the biceps brachii muscle demonstrated ragged-red fibers. An A3243G point mutation in the tRNA(Leu(UUR)) gene was detected, indicating the presence of MELAS. Involuntary movements improved on treatment with haloperidol up to 4.5 mg/day. HCB usually appears in elderly individuals, and cases less than 40-years-old are very rare. The mitochondrial dysfunction in MELAS may accelerate development of HCB.
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PMID:[A case of MELAS presenting juvenile-onset hyperglycemic chorea-ballism]. 1611 32

A 50-year-old man who underwent hemodialysis (HD) at local outpatient HD center due to end-stage renal disease (ESRD) was transferred to our hospital because of pneumonia. He had severe emaciation and past history of congestive heart failure. Presenting symptoms almost consistently involved difficulty in hearing and recurrent attacks of migraine-like headaches. He was diagnosed with dilated cardiomyopathy, showing diastolic mechanical dyssynchrony by tissue Doppler echocardiography. On the day of death, he had hematemesis and hemorrhagic shock. Autopsy revealed perforation of duodenum, and genetic analysis using mitochondrial DNA from cardiac muscle and iliopsoas muscle revealed a 3243A > G mutation in the mitochondrial tRNA(Leu(UUR)) gene, which is related to mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). Multiple organ failure due to the mutation of mitochondrial DNA with gastrointestinal bleeding is not a common.
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PMID:An autopsy case of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) with intestinal bleeding in chronic renal failure. 2163 Dec 36