Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0011168 (dysphagia)
 15,644 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A man aged 70, showed early disorientation, memory defects, delusions and rages at 66, later mental deterioration with muteness and dysphagia. He died of cardiac failure. The postmortem examination revealed macroscopically and light microscopically the neuropathological findings of atypical senile dementia. Moreover, it is the interesting characteristic in the presented case that there are electron microscopically two types of filaments making the neurofibrillary tangles. One showed the so-called "paired helical filaments", which were observed in the cerebral cortex. The other showed paralled "straight filaments". These "straight filaments" were found in the bilateral hippocampi.
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PMID:Electron microscopic structure of the Alzheimer's neurofibrillary changes in case of atypical senile dementia. 64 61

A man aged 70, descendant of an apparently healthy family, showed disorientation, delusional ideas and rages at 66. Later there was slowly advancing deterioration with muteness, disorientation and dysphagia. He died of cardiac failure. There was the diffuse atrophy of the cerebrum, which was remarkably accentuated on both temporal lobes (poles, T2 and T3), where the loss of nerve cells and proliferation of astrocytes were found in the cortex and pallor and conspicuous fibrillary gliosis were noted in the white matter. These findings fundamentally suggest Pick's disease. On the one hand, numerous senile plaques and Alzheimer's neurofibrillary changes, suggestive of Alzheimer's disease (senile dementia), were observed throughout the cerebral cortex. On the other hand, a few inflated cells were also seen in the cingulate, superior frontal gyri and temporal lobes. Basilar artery was moderately atherosclerotic and cerebrovascular disorders were distributed throughout the cerebral cortex and basal ganglia, especially in the field of supply of middle cerebral artery. This case is similar to rare cases reported by Berlin (1949), Neumann (1949) and Oyanagi et al. (1975). The nosological situation as a disease entity remains to be determined.
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PMID:An autopsy case of atypical senile dementia with atrophy of the temporal lobes--a clinical and histopathological report. 66 3

A study of 34 hospitalized patients with suspected neuroleptic malignant syndrome (NMS) found that 24 had NMS and the other 10 had acute, usually serious, medical problems. There were no demographic, psychopathologic, or treatment-related differences between the groups. NMS patients had more dehydration, cogwheeling, diaphoresis, disorientation, drooling, dysphagia, and rigidity and higher diastolic blood pressure. The groups had similar fevers, heart rates, creatine kinase levels, and white blood cell counts. Three non-NMS patients died during their acute illnesses. Results suggest that considering NMS as a diagnosis and ruling out other acute illnesses such as pneumonia are equally important when a patient on neuroleptic medication becomes medically ill.
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PMID:Distinguishing neuroleptic malignant syndrome (NMS) from NMS-like acute medical illnesses: a study of 34 cases. 135 2

Numerous Caucasian familial Alzheimer's disease (FAD) pedigrees have been described in the literature, while only 21 Japanese FAD families have been reported to date. Here we report the clinical findings and the result of molecular genetic analysis of 4 patients from two FAD kindreds, OS-2 and OS-3. The proband in OS-2 family has developed loss of recent memory and place disorientation age at 43. A brain CT showed severe diffuse cortical atrophy. Her younger brother had dementia at 42 years and her mother and other 3 siblings had also dementia symptoms suspected to be Alzheimer's disease. The proband in OS-3 family showed declining recent memory at 49 years and developed dysphagia, gait disturbance and emotional incontinent with cerebral atrophy at 52 years. His father and elder brother demonstrated dementia signs at 60 and 54 years old, respectively. Recently it was reported that affected members from 2 Caucasian kindreds with FAD had missense mutation in exon 17 of the gene for amyloid precursor protein (APP). Patients from three different Japanese kindreds with FAD also showed the same mutation on the APP gene. Amino acid substitution (Val-Ile) at codon 717 by this mutation is responsible for FAD in at least some kindreds. We used genomic DNA from 4 affected members of 2 families to determine whether the disease in these families is associated with a APP717 mutation and the mutated codons, 102, 117, 129, 178 and 200, on the gene for protease-resistance prion protein (PrP) which cause transmissible dementia, Creutzfelt-Jacob disease (CJD) and Gerstmann-Strausler syndrome (GSS).(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Two kindreds with familial Alzheimer's disease--analysis of the APP717 mutation and the mutated genes for the prion protein]. 135 66

Idiopathic hypoparathyroidism was diagnosed in five young to middle-aged cats of mixed breeding. Three of the cats were male and two were female. Historic signs included lethargy (n = 5), anorexia (n = 5), muscle tremors (n = 4), weakness (n = 4), generalized seizures (n = 3), ataxia (n = 3), mental dullness or disorientation (n = 3), panting (n = 2), pruritus (n = 1), ptyalism (n = 1) and dysphagia (n = 1). Weakness (n = 4), dehydration (n = 2), cataracts (n = 2), hypothermia (n = 1), and bradycardia (n = 1) were found on physical examination. Results of electrocardiography revealed a prolonged Q-T interval in two cats. Results of initial laboratory tests revealed profound hypocalcemia and severe hyperphosphatemia with normal renal function. The diagnosis of hypoparathyroidism was made on the basis of the history, clinical signs, and results serum biochemical testing (i.e., severe hypocalcemia and hyperphosphatemia); in two cats, the diagnosis was also confirmed by histologic examination of parathyroid glands. Initial treatment included intravenous administration of 10% calcium gluconate and oral administration of large loading doses of calcium and vitamin D (dihydrotachysterol). Successful long-term management with dihydrotachysterol and calcium was achieved in all cats. The final dosage of dihydrotachysterol required to maintain normocalcemia in the five cats ranged from 0.004 to 0.04 mg/kg/day (mean = 0.015 mg/kg/day). Long-term calcium supplementation was given to three of the cats in dosages ranging from 29 to 53 mg/kg/day (mean = 42 mg/kg/day) of elemental calcium. One cat died after 28 months of therapy from widely metastatic hemangiosarcoma; the other three cats are still alive and well after 5 to 37 months of treatment.
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PMID:Idiopathic hypoparathyroidism in five cats. 202 14

Clinical and neuropathological studies of a case of pallido-nigro-luysian atrophy with thalamic degeneration and ossification of the posterior longitudinal ligament (OPLL) is reported. The patient was a 72-year-old man, suffering from gait disturbance caused by OPLL for about 3 years. The clinical features were characterized by gradual development of disorientation in place, time and person, memory disturbance, vertical gaze palsy and rigidity of extremities. Dysarthria, dysphagia, bradykinesia, masked face and neck dystonia appeared at the advanced stage of his illness. There was no tremor or other involuntary movements. A clinical diagnosis of parkinsonism was suspected. The main neuropathological findings were neuronal loss and gliosis in globus pallidus, substantia nigra, subthalamic nucleus and thalamus. In addition, neuronal loss of the anterior horn of the cervical spinal cord due to compression by OPLL (C4-C7) was recognized. The neuropathological findings of the present case were consistent with systemic degenerative disorder of the nervous system affecting the pallido-nigro-luysian tract. This rare disorder should be considered in the differential diagnosis of parkinsonism in old people.
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PMID:[An autopsy case of pallido-nigro-luysian atrophy associated with OPLL]. 251 8

We report a 70-year-old man with progressive gait disturbance and gaze palsy. The patient was well until summer of 1991 when he was 66-year-old, when he noted a gradual onset of difficulty in gait and looking downward. He was evaluated in our hospital in May, 1994 when he was 69-year-old. On admission, he was alert but markedly demented with disorientation and memory loss. Constructional apraxia and dressing apraxia were noted. He had difficulty in gaze to all directions; he could move his eyes only 20% of the normal range. Oculocephalic response was retained. He had small voice and some dysphagia. Other cranial nerves were unremarkable. He could not walk unsupported. Marked retropulsion was noted in which he would fell down spontaneously upon standing unless supported. Moderate to marked rigidity was noted in the neck, trunk, and in the legs, however, in the upper extremities, rigidity was only mild. No tremor was noted. Deep reflexes were symmetrically exaggerated with ankle clonus bilaterally. Plantar response was flexor. Sensation was intact. Routine laboratory tests were unremarkable, however, his cranial MRI showed moderate to marked fronto-temporal atrophy and moderate midbrain and pontine tegmental atrophy. The third ventricle was markedly dilated. He was discharged for out patient care, however, his dysphagia had become progressively worse, and he suffered from frequent bouts of pneumonia. He was admitted to our service on October 17, 1994. His neurologic examination was essentially similar except that he showed more advanced dementia. He was still able to stand with support. Gastrostomy was placed on October 25. Post-operative course was unremarkable. He was discharged on November 1. His motor disturbance showed gradual deterioration, and by the May of 1995, he became bed-ridden, and was admitted to another hospital on May 30, 1995. He was almost totally unable to move his eyes, but oculocephalic response was still elicited. Marked truncal and limb rigidity were noted. He vomited coffee-ground substance on October 31, 1995, and developed hypotension. The subsequent course was complicated by pneumonia and he expired on November 24. The patient was discussed in a neurological CPC. Majority of the participants thought that the patient had progressive supranuclear palsy, but some participants thought that the patient had corticobasal degeneration because cortical atrophy was so marked. Post mortem examination revealed atrophy of the frontal and parietal lobe. The brain stem was atrophic particularly in the tegmental area including the midbrain. The substantia nigra showed marked neuronal loss and globose type neurofibrillary tangles in the remaining neurons. The neurons in the locus coeruleus was well retained, however neurofibrillary tangles were seen. In addition, the cerebellar dentate nucleus, the inferior olivary nucleus, and the internal globus pallidus showed marked neuronal loss and neurofibrillary degeneration. In the frontal cortex, although macroscopic examination showed some atrophy, microscopic examination failed to show neuronal loss or gliosis. The pathologic findings were consistent with the diagnosis of progressive supranuclear palsy.
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PMID:[A 70-year-old man with a progressive gait disturbance and gaze palsy]. 902 10

We report an 81-year-old woman who presented with motor disturbance in her right hand which was followed by parkinsonism, dementia, and supranuclear gaze palsy. She was well until her age of 73 (1989) when she had an onset of difficulty in using her right hand; she did not have weakness. She also developed small step gait. These symptoms had progressively become worse. She was admitted to our hospital in July of 1992 when she was 75 years old. On admission, she was alert and oriented, but she showed some difficulty in recent memory. She did not have aphasia or ideomotor apraxia, but she showed limb-kinetic apraxia in her right hand, ideational apraxia, dressing apraxia, constructional apraxia, tactile agnosia, and left-right disorientation. Alien-hand syndrome was observed in her right hand. Ocular movement was within normal limit for her age. She had oro-lingual dyskinesia. Otherwise, cranial nerves were intact. She walked in small-steps. She had rigidity and fine myoclonic movements in her right upper extremity. Deep reflexes were within normal limits and symmetric. Superficial and deep sensations were intact. Laboratory findings were unremarkable. She was discharged on August 15, 1992 for outpatient follow-up. Her motor and mental symptoms were progressive. By October of 1992, she developed supranuclear vertical gaze palsy, marked rigidity in the neck, and astereognosis. By June 1993, she became unable to walk without support. MRI taken in May of 1994 revealed atrophy of insular cortices, temporal lobe tips and parietal lobes more on the left side; the third ventricle was slightly dilated. She was admitted to another hospital on June 30, 1994. She had become a bed-ridden state with marked dementia and dysphagia. She developed fever on November 5, 1996 and expired on December 16 of the same year. She was discussed in a neurological CPC and the chief discussant arrived at the conclusion that the patient had corticobasal degeneration. Other diagnoses entertained included progressive supranuclear palsy, pallidonigroluysian atrophy, diffuse Lewy body disease, and Pick's disease. But the most of the participants agreed with the chief discussant's diagnosis. Post-mortem examination revealed aspiration pneumonia in the lungs and liver fibrosis apparently due to viral hepatitis. In the central nervous system, frontal and parietal lobes were atrophic more on the left side. Atrophy was accentuated in the superior frontal gyri, precentral and postcentral gyri, and superior and inferior parietal lobuli. Neuronal loss and astrocytosis were seen in these regions with scattered ballooned neurons. The substantia nigra showed marked neuronal loss and gliosis; neuronal loss was also seen in the pars reticulata. The outer and inner segments of globus pallidus and the periacqueductal gray matter showed gliosis, however, no apparent neuronal loss was seen. Putamen, subthalamic nucleus, and the dentate nucleus were preserved. Pathologic changes were consistent with the diagnosis of corticobasal degeneration. It was interesting to note that anti-tau immunostaining and Gallyas staining revealed neuropil threads and astrocytic plaques in the cortical areas, and intracytoplasmic inclusion bodies in the cortical neurons; these inclusions were not stained by Bodian stain. Tuft-shaped astrocytes which may be seen in progressive supranuclear palsy were not observed in this patient. Although corticobasal degeneration and progressive supranuclear palsy share some neurological features in common, this patient showed typical pathologic changes of corticobasal degeneration.
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PMID:[An 81-year-old woman with progressive motor disturbance, extrapyramidal features, dementia, and oculomotor palsy]. 956 8

We describe a patient with paraneoplastic neurologic syndrome confirmed on postmortem examination. This 42-year-old man was admitted due to general fatigue, emaciation and acute-onset disorientation. Neurological examination revealed disorientation, moderate cognitive impairment, cerebellar ataxia, bilateral limitations and nystagmus in all directions during external ocular movement, swallowing disorder, bilateral Babinski sign, sensory disturbance in the distal parts of all extremities, and Romberg's sign. T-cell lymphoma was diagnosed following biopsy of the cervical lymph node. Neurological condition improved slightly after chemotherapy, but subsequently deteriorated. At about 6 years after the disease onset, brain magnetic resonance imaging (MRI) revealed atrophy of bilateral hippocampi and the upper vermis of the cerebellum. The patient died of pneumonia after a clinical course of about 6 years and 6 months. Pathologically, neuronal loss, reactive gliosis and perivascular lymphocytic infiltration were observed in the hippocampi, cerebellum, and inferior olivary nuclei. Lymphocytes around the vessels were positive for LCA and UCHL-1, but negative for CD8 and L26, and thus were considered to be T cells. No lymphoma cell was observed in the central nervous system or lymphatic organs. Based on the pathological findings, paraneoplastic neurologic syndrome (limbic encephalitis, cerebellar degeneration and olivary pseudohypertrophy) associated with T-cell type malignant lymphoma was diagnosed. Only three other cases of paraneoplastic neurologic syndrome associated with T-cell lymphoma have been reported. In those cases, death occurred due to the deterioration of malignant lymphoma, whereas the present patient died about 6 years after the remission of malignant lymphoma. Prognosis may thus depend on the course of the malignant lymphoma. In the present patient, neurological symptoms deteriorated after remission of malignant lymphoma, and no pathological lesion were found in the lymphatic organs. Lesions in the central nervous system in paraneoplastic neurological syndromes may follow a course independent of the original malignant disease.
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PMID:[An autopsied case of paraneoplastic neurologic syndrome (limbic encephalitis, cerebellar degeneration, and pseudohypertrophy in the inferior olivary nuclei) associated with T cell lymphoma]. 1618 Jul 7

A case of brainstem encephalitis in a man positive for both anti-Hu and anti-Ri antibodies is reported. This case had an unusual double step evolution and progressive involvement of different CNS subdivisions at MRI. Brainstem encephalitis developed abruptly, mimicking a posterior vascular deficit with vertigo and dizziness. These symptoms transiently remitted completely after a few days to relapse acutely 1 month later with sudden loss of consciousness, followed by confusion, disorientation, dysarthria, dysphagia and reduced thermic sensation on the right side. Within another few days, the patient developed acute respiratory failure and died some weeks later. MRI was negative at the beginning but later showed a progressive ascending involvement of the brainstem and thalamus. At autopsy, this picture corresponded to lymphocytic infiltration, preferentially B cells into the perivascular spaces and T cells in the brainstem parenchyma, confirming that T cells could be the effector of cytotoxicity, probably in the presence of cooperation with B cells that were well represented in this setting.
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PMID:Double step paraneoplastic brainstem encephalitis: a clinicopathological study. 1944 98


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