Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0917801 (insomnia)
 10,606 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hartnup disease is an inborn abnormality of renal and intestinal transport involving the neutral amino acids. Intermittent pellagra-like rash, attacks of cerebellar ataxia and psychiatric disturbance are characteristic symptoms of this disease. We described here a patient with adult-onset Hartnup disease who presented unique neuropsychiatric symptoms but no dermatologic symptoms, and reported features of amino acids transport in this patient and his family. The patient, a man aged 37 years, was referred to us because of lasting daytime bruxism. He is the second child of healthy parents who are first cousin; his elder brother who has been mentally retarded became bed-ridden and died at 32 years of age. His younger brother is completely healthy. Although the patient's development in infancy has been slightly retarded, he completed compulsory 9-year education. At 29 years of age, he experienced episodes of diplopia, ataxic gait and insomnia, and at 33 years of age, of transient stupor. There had been no history of photosensitivity or dermatitis. On neurological examination, there were trunkal ataxia, increased muscular tone and decreased mental activity besides bruxism. These symptoms remained unchanged despite of several medications including trihexyphenidyl, diazepam, halloperidol, tiapride and sulpiride. Two months later, the patient became stuporous; bruxism and hypertonicity became exaggerated. Myerson's sign, sucking reflex and grasp reflex in both hand appeared. There was no dermal lesion. A cranial computed tomography revealed a small calcification in the right frontal subcortical region and a single photon emission tomography indicated possible bifrontal hypoperfusion. Electroencephalograms demonstrated non-specific slowing. Somatosensory evoked potentials and nerve conduction velocities were normal. There were constant indicanuria and amino-aciduria.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Adult-onset Hartnup disease presenting with neuropsychiatric symptoms but without skin lesions]. 258 82

A 50 year-old woman presented in January of 1995 with a prolonged history of symptoms of multiple sclerosis (MS) and was classified at the time with a remitting-progressive course. Her chief symptoms included slurring of speech, impairment of vision with intermittent diplopia, difficulties with gait and balance with spastic-ataxic gait, mental depression, insomnia, fatigue, impaired cognitive functions notably poor short term memory and recurrent urinary tract and sinus infections. An MRI scan showed multiple nodular demyelinating lesions scattered in the subcortical white matter and periventricularly of both cerebral hemispheres. Over the following 18 months, while receiving three treatment sessions per week with picotesla electro-magnetic fields (EMFs) which were applied extracranially, she showed a significant recovery in both physical and mental symptoms and additionally experienced decreased susceptibility to infections. In addition, the course of her disease appeared to have stabilized as opposed to the preceding 5 years during which time she experienced insidious, steady deterioration in her functioning. Despite this remarkable clinical recovery through the application of EMFs, and MRI scan obtained at the same diagnostic center 18 months after initiation of treatment with EMFs showed no changes in the number and size of the demyelinating plaques. These findings demonstrate lack of a correlation between recovery of symptoms and the number and extent of demyelinating plaques on MRI scan. It has been known since the days of Charcot in the latter half of the 19th century that in MS there is a great disparity between the histopathological changes of the disease and neurologic deficits. This report enhances the notion that demyelination may reflect an epiphenomenon of the disease.
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PMID:Lack of a correlation between demyelinating plaques on MRI scan and clinical recovery in multiple sclerosis by treatment with electromagnetic fields. 913 46

A 70-year old woman was admitted because of sleep maintenance insomnia with severe respiratory sounds during sleep. Polysomnography (PSG) revealed frequent respiratory events, particularly hypopneas, throughout the night associated with severe oxygen desaturation, and inspiratory stridor, which was shown to have a high-pitched frequency by acoustic sound analysis. She also presented fine finger tremor due to parkisonism, increased bilateral tendon responses, cerebellar ataxic gait, and dysautonomia. Therefore, we concluded that she suffered from multiple systemic atrophy (MSA). Nasal continuous positive airway pressure (nCPAP) treatment was successful. Characteristic PSG findings and analysing the snoring sound are important in the early diagnosis of sleep-related disordered breathing in MSA.
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PMID:[A case of multiple systemic atrophy (MSA) analyzed by acoustic sound for nocturnal inspiratory stridor]. 1776 88

Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) is a rare inflammatory disorder featured by pontocerebellar dysfunctions and, in some cases, later cognitive disturbances. Here, we describe an atypical presentation of CLIPPERS, characterized by clinical onset with neuropsychiatric and cognitive symptoms. A 45-year-old man was referred to our Memory Clinic due to difficulties at work for over a month, caused by confusion and asthenia. Furthermore, insomnia and mood changes appeared. These disturbances were unresponsive to antipsychotic and antidepressant drugs. At admission, the patient presented also with severe cognitive impairment, urinary incontinence, ataxic gait, and limitation of lateral conjugate gaze. During the hospitalization, the patient underwent cerebrospinal fluid analysis, serum systemic autoimmune disorders laboratory research, neoplastic markers analysis, and brain MRI scan. The radiological and laboratory findings were compatible with the diagnosis of CLIPPERS. The sudden clinical and radiological improvement of the patient's conditions, after only a week of steroid therapy, further confirmed our clinical suspicion. The present case enhances the necessity to consider CLIPPERS in the differential diagnosis of pre-senile cognitive impairment, even in the absence of early pontocerebellar neurological signs. Before the spreading of the neuroinflammatory and degenerative processes, CLIPPERS represents one among the few possible reversible causes of cognitive decline.
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PMID:An Atypical Presentation of CLIPPERS, a Challenging Diagnosis of Reversible Early-Onset Dementia. 3308 69