Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P50583 (asymmetrical)
 12,197 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The syndrome of the anterior spinal artery is a rare disease with a diagnosis based an its characteristic clinical features. Until the widespread use of the Magnetic Resonance (MR) the lesional confirmation required an anatomopathological study. We report a 49-years-old male with lacinating interscapular pain and sudden asymmetrical tetraparesia, in whom MR scan disclosed a plurisegmental anterior spinal lesion and a posterolateral disk protrusion at C6-C7 level. We discuss the etiological and pathogenetical relation between degenerative vertebral disk disease and spinal infarctions.
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PMID:[Anterior spinal artery syndrome caused by cervical disc protrusion. Diagnosis by magnetic resonance]. 176 45

Listerial brainstem encephalitis is a rare disease. Only 62 cases have been reported previously; all were in adults, only 8% of whom were immunosuppressed. The disease has a characteristic biphasic course: a nonspecific prodrome of headache, nausea or vomiting, and fever lasting for several days is followed by progressive asymmetrical cranial-nerve palsies, cerebellar signs, hemiparesis or hypesthesia, and impairment of consciousness. Neck stiffness was initially present in only 55% of the cases described thus far. Studies of cerebrospinal fluid often revealed only mild abnormalities. Cultures of cerebrospinal fluid and blood were positive in 41% and 61% of cases, respectively. Respiratory failure occurred in 41% of cases. Initial computed tomography of the brain often gave normal results; magnetic resonance imaging better demonstrated brainstem abnormalities. Overall mortality was 51%. All untreated patients died. When treatment with ampicillin or penicillin was initiated early, the rate of survival was > 70%; however, neurological sequelae developed in 61% of survivors.
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PMID:Brainstem encephalitis (rhombencephalitis) due to Listeria monocytogenes: case report and review. 850 61

This contribution forms part of the HEAR project. It describes some phenotypes of inherited low-frequency sensorineural hearing impairment (LFSHI) and estimates the prevalence of this inherited hearing impairment (HI) based on a clinical series. During a 10-year period (1987-1996), 418 subjects (134 males and 284 females), with a median age of 68 years (range 4-98), had been examined with LFSHI, defined as hearing loss most pronounced in the low frequencies (i.e., 250 and 500 Hz > 20 dB HL with better hearing, i.e., > or =15-dB difference at 1 and/or 2 and/or 4 kHz with an air-bone gap <15 dB for the average of 0.5, 1, and 2 kHz). The 418 subjects comprising 0.6 per cent of the total number of subjects examined (N=69,309) were subdivided into four categories: category I positive genetic subjects (N=69); category II, probably genetic (N=339); category III, uncertain genetic (N=6); and category IV, subjects with contradictory audiological findings (N=4). The phenotype in category I demonstrated a symmetrical LFSHI, with a pattern of progression showing a slow deterioration in the high frequencies (i.e., 2, 4, and 8 kHz as a function of age)--the progression comprising 40-45 dB. In the low frequencies (i.e., 250, 500, and 1,000 Hz), a deterioration of 15-25 dB could be demonstrated from the youngest to the oldest age group. In category II, a symmetrical LFSHI was found in 179 subjects, showing the same pattern of progression as in category I. However, in the age group 20-39 years, a significantly poorer hearing was found in the low frequencies compared to category I, implying that several phenotypes may be present in LFSHI. A subgroup (A) in category II exhibited normal hearing in one ear with LFSHI in the opposite ear with the same pattern of progression as in category I. Three other subgroups with LFSHI and flat/sloping audiogram in the opposite ear and asymmetrical LFSHI also showed the same type of progression in the ear with LFSHI as in category I. A prevalence of 0.18/1,000 (95 per cent CI 0.13-0.22) of LFSHI was estimated based on the background population with a fairly constant prevalence throughout life. It is concluded that inherited nonsyndromal LFSHI is a rare disease and that the many different phenotypes of LFSHI probably are associated with pronounced genetic heterogeneity.
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PMID:Inherited sensorineural low-frequency hearing impairment: some aspects of phenotype and epidemiology. 1074 71

A working group supported by the Office of Rare Diseases of the National Institutes of Health formulated neuropathologic criteria for corticobasal degeneration (CBD) that were subsequently validated by an independent group of neuropathologists. The criteria do not require a specific clinical phenotype, since CBD can have diverse clinical presentations, such as progressive asymmetrical rigidity and apraxia, progressive aphasia, or frontal lobe dementia. Cortical atrophy, ballooned neurons, and degeneration of the substantia nigra have been emphasized in previous descriptions and are present in CBD, but the present criteria emphasize tau-immunoreactive lesions in neurons, glia, and cell processes in the neuropathologic diagnosis of CBD. The minimal pathologic features for CBD are cortical and striatal tau-positive neuronal and glial lesions, especially astrocytic plaques and thread-like lesions in both white matter and gray matter, along with neuronal loss in focal cortical regions and in the substantia nigra. The methods required to make this diagnosis include histologic stains to assess neuronal loss, spongiosis and ballooned neurons, and a method to detect tau-positive neuronal and glial lesions. Use of either the Gallyas silver staining method or immunostains with sensitive tau antibodies is acceptable. In cases where ballooned neurons are sparse or difficult to detect, immunostaining for phospho-neurofilament or alpha-B-crystallin may prove helpful. Methods to assess Alzheimer-type pathology and Lewy body pathology are necessary to rule out other causes of dementia and Parkinsonism. Using these criteria provides good differentiation of CBD from other tauopathies, except frontotemporal dementia and Parkinsonism linked to chromosome 17, where additional clinical or molecular genetic information is required to make an accurate diagnosis.
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PMID:Office of Rare Diseases neuropathologic criteria for corticobasal degeneration. 1243 Jul 10

Idiopathic granulomatous mastitis is a rare disease of the breast. Clinically and radiologically it may mimic breast carcinoma. Awareness of surgeons, pathologists, and radiologists is essential to avoid unnecessary mastectomies. Data regarding 24 patients with histologically confirmed idiopathic granulomatous mastitis treated at our center over 8 years were analyzed. The mean age of patients was 34.3 years. Breast lump was the most common presentation. The right breast was affected in 16 cases. Four patients were pregnant at the time of presentation. Lactation within 6 months of presentation was documented in four patients. Two patients used contraceptives pills. A clinical suspicion of malignancy was present in 17 cases. Mammography was performed in 16 patients and showed focal asymmetrical dense lesions in 9, well-circumscribed opacity in 4, spiculated lesion in 1, and was normal in 2. Fine-needle aspiration was performed in 17 patients, of which 2 were reported as malignant. Wide local excision was the mainstay of treatment. One patient underwent mastectomy upon clinical, mammographic, and repeated cytologic findings consistent with malignancy, and the final histology confirmed idiopathic granulomatous mastitis with no evidence of malignancy. Four patients developed recurrence after a mean follow-up of 31.2 months. A greater awareness of the rare entity of idiopathic granulomatous mastitis is mandatory to avoid unnecessary mastectomies. Clinical, radiologic, and even cytologic findings are sometimes confused with malignancy. To the best of our knowledge, our patient who developed the disease at the age of 11 years is the youngest reported case.
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PMID:Idiopathic granulomatous mastitis: time to avoid unnecessary mastectomies. 1523 90

We report the case of a 16-year-old boy with 'igloo-like prepuce' and hypospadia, successfully treated by asymmetrical antero-posterior postectomy. Histopathological examination consisting of classical microscopy, immuno-histochemistry and electronmicroscopy of the surgical material provided insights into the etiopathogenesis of this rare disease.
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PMID:Igloo-like prepuce: a peculiar aspect of smooth-muscle hamartoma of the genitalia? 1560 81

Clinical, neurophysiological, neuroimaging and biochemical studies were performed in five boys with childhood and adolescent form of cerebral X-ALD, which is a very rare disease in developmental age. In all patients, rapidly progressive spasticity, ataxia and mental deterioration were found. Seizures occurred in four of them. Additionally, visual and hearing impairment were observed in four and three patients respectively. Adrenal insufficiency was also diagnosed in four cases. MR revealed extensive demyelination located mainly symmetrically in the parieto-occipital areas, in one patient in whom asymmetrical lesions in that region were found. All patients had abnormal visual, brainstem and somatosensory evoked potentials recording, reflecting the central demyelination occurring in X-ALD. The clinical diagnosis in every case was confirmed by the significantly elevated concentration of very long chain fatty acids (VLCFA) measured in plasma in comparison to normal values.
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PMID:Cerebral childhood and adolescent X-linked adrenoleukodystrophy. Clinical presentation, neurophysiological, neuroimaging and biochemical investigations. 1718 59

The pure autonomic failure is a rare entity, with only a few cases reported in the literature. The authors describe a case with compensatory excessive sweating of the right hemithorax as an initial manifestation of a pure autonomic failure, and the authors review the clinical characteristics of this disease. A 69-year-old man presented excessive sweating of the right hemithorax. Physical examination revealed orthostatic hypotension. No other neurological features were present. The autonomic study showed a low heart rate response to the Valsalva maneuver and reduced supine plasma norepinephrine levels. A pure autonomic failure was diagnosed. Treatment did not improve patient's symptoms. Anhidrosis with asymmetrical compensatory hyperhidrosis can be the only symptom of a pure autonomic failure. The authors highlight an unusual form of presentation of a rare disease, difficult to diagnose if it is not taken into consideration.
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PMID:A 69-year-old man with excessive sweating of the right hemithorax. 2269 55

Vanishing lung syndrome, also known as idiopathic giant bullous emphysema, is a rare disease characterized by giant emphysematous bullae. The disease is diagnosed by radiological findings of giant bullae in one, or both, of the upper lobes of the lung, occupying at least one-third of the hemithorax. There have been several reports of vanishing lung syndrome, however it remains to be determined whether genetic inheritance is associated with the disease. In the present study, five patients within one family, with vanishing lung syndrome, were reported during a follow-up period of ~ 20 years. All of the patients were diagnosed by radiological findings, which showed diffuse bullae in the lungs, which were of varying size and asymmetrical distribution, and the occurrence of pneumothorax or emphysema. The Medical Ethics Committee of the People's Hospital of Zhangye Municipality (Zhangye, China) approved this study, and all subjects gave their informed consent During the follow-up period of 20 years, bullae in these patients were shown to progressively increase, and no other pulmonary diseases, including lung cancer, tuberculosis, pneumoconiosis and chronic bronchitis were observed. Autosomal dominant inheritance was observed in five cases, and autosomal recessive inheritance was observed in one case. The present study suggests that vanishing lung syndrome may be associated with autosomal dominant and recessive genetic inheritance.
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PMID:Vanishing lung syndrome in one family: five cases with a 20-year follow-up. 2532 95

Kimura's disease is a rare chronic inflammatory disorder predominantly affecting young Asian male patients, occurring mainly in the head and neck regions. Kimura's disease of the upper extremity is extremely rare, and previous case reports in the literature show similar imaging characteristics with consistent location at the medial epitrochlear region, predominantly with unilateral involvement. We present the first reported case of Kimura's disease affecting the anterolateral aspect of the upper arm, sparing the medial epitrochlear region, illustrating that with typical MR appearance and serology, the involvement of this rare disease in an atypical location still warrants consideration of this diagnosis. There was also bilateral asymmetrical involvement in our patient, suggesting the possibility of a propensity for Kimura's disease affecting the upper extremities to have bilateral involvement, which may necessitate imaging of the clinically asymptomatic contralateral limb in these patients for early lesion identification and treatment.
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PMID:A rare disease in an atypical location-Kimura's Disease of the upper extremity. 2624 72


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