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 term phylloid hypomelanosis is proposed to denote a new etiologically defined neurocutaneous syndrome. The hallmark of this trait is a pattern of hypopigmentation consisting of round or oval lesions, large asymmetrical areas reminiscent of the leaves of a begonia, as well as pear-shaped areas or oblong macules. The term phylloid pattern is derived from Greek phyllon=leaf and eidos=form. In 5 out of 6 cases in which cytogenetic findings were reported, a mosaic trisomy 13 or translocation trisomy 13 was found. All patients showed CNS defects with mental retardation. In addition, absence of corpus callosum, conductive hearing loss, choroidal and retinal coloboma,cranio-facial defects as well as brachydactyly,clinodactyly, camptodactyly and other skeletal anomalies were reported. In contrast to hypomelanosis of Ito which is associated with many different forms of genetic mosaicism, phylloid hypomelanosis most likely represents a cytogenetically rather uniform neurocutaneous phenotype.
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PMID:[Phylloid hypomelanosis and mosaic trisomy 13: a new etiologically defined neurocutaneous syndrome]. 1122 Feb 35

The phenomenon of building-related diseases is attracting much research interest in recent years because of the extent to which it affects people with compromised immune systems, especially children. In this study, we reported the neurological findings in children who attended our Center because of chronic exposure to toxic molds. Clinical neurological and neurobehavioral questionnaires were administered with the cooperation of the children's parents. The children then underwent a series of neurophysiological tests including electroencephalogram (EEG), brainstem evoked potential (BAEP), visual evoked potential (VEP), and somatosensory evoked potential (SSEP). The results showed high levels of abnormalities in the analysis of the subjective responses derived from the questionnaires. The EEG examination was abnormal in seven out of ten of the patients compared to the controls with only one in ten with episodes of bihemispheric sharp activity. In all the patients, there was frontotemporal theta wave activity that seemed to indicate diffuse changes characteristic of metabolic encephalopathies. Also, there was highly marked 1 to 3 Hz delta activity that was asymmetrical in the right hemisphere of the brain in three out of ten patients. The waveforms of BAEP showed abnormalities in 90% of the patients with both 15' and 31' check sizes compared to none in the controls. There were significant delays in waveform V in a majority of the patients representing dysfunctional cognitive process and conductive hearing loss in both ears. VEP showed clear abnormalities in four in ten of the patients with P100 amplitudes and latencies decreased bilaterally. In all the patients, there was slowing of conduction in the right tibial at an average of 36.9 ms and there was significant decrease in amplitude of response at the proximal stimulation site. Sensory latencies obtained in the median, ulnar, and sural nerves bilaterally showed abnormalities in five out of ten compared to none in the controls. The median, ulnar, and sural sensory potentials were abnormal in six out of ten patients. There was prolongation of the median distal sensory latencies bilaterally at an average of 4.55 ms on the right and an average of 6.10 ms on the left as compared to the ulnars of 2.55 ms bilaterally. There was no abnormality in the controls. These findings represent evidence of diffuse polyneuropathy to which three patients demonstrated borderline slow motor conduction at an average of 41.1 ms. Overall, the objective neurophysiological measurements (EEG, BAEP, VEP, and SSEP) were abnormal, indicating significant neurological deficits in all the patients. Our findings revealed the extent to which toxic molds can affect the neurological and behavioral status of children. Further work should be encouraged in this regard.
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PMID:Neurophysiological effects of chronic indoor environmental toxic mold exposure on children. 1280 13

More than 30 million U.S. adults have hearing loss. This condition is underrecognized, and hearing aids and other hearing enhancement technologies are underused. Hearing loss is categorized as conductive, sensorineural, or mixed. Age-related sensorineural hearing loss (i.e., presbycusis) is the most common type in adults. Several approaches can be used to screen for hearing loss, but the benefits of screening are uncertain. Patients may present with self-recognized hearing loss, or family members may observe behaviors (e.g., difficulty understanding conversations, increasing television volume) that suggest hearing loss. Patients with suspected hearing loss should undergo in-office hearing tests such as the whispered voice test or audiometry. Patients should then undergo examination for cerumen impaction, exostoses, and other abnormalities of the external canal and tympanic membrane, in addition to a neurologic examination. Sudden sensorineural hearing loss (loss of 30 dB or more within 72 hours) requires prompt otolaryngology referral. Laboratory evaluation is not indicated unless systemic illness is suspected. Computed tomography or magnetic resonance imaging is indicated in patients with asymmetrical hearing loss or sudden sensorineural hearing loss, and when ossicular chain damage is suspected. Treating cerumen impaction with irrigation or curettage is potentially curative. Other aspects of treatment include auditory rehabilitation, education, and eliminating or reducing use of ototoxic medications. Patients with sensorineural hearing loss should be referred to an audiologist for consideration of hearing aids. Patients with conductive hearing loss or sensorineural loss that does not improve with hearing aids should be referred to an otolaryngologist. Cochlear implants can be helpful for those with refractory or severe hearing loss.
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PMID:Hearing Loss in Adults: Differential Diagnosis and Treatment. 3130 44