PubMed Health⌕ Search

Biomedical subjects

K Dias

Publications and source records attributed to K Dias.

7 recordsLinked to original sources
PubMed2001

Recessive ataxia with ocular apraxia: review of 22 Portuguese patients.

BACKGROUND: The recessive ataxias are a heterogeneous group of neurodegenerative disorders characterized by cerebellar ataxia associated with a number of different neurologic, ophthalmologic, or general signs. They are often difficult to classify in clinical terms, except for Friedreich ataxia, ataxia-telangiectasia, and a relatively small group of rare conditions for which the molecular basis has already been defined. OBJECTIVES: To study the clinical presentation and to define diagnostic criteria in a group of Portuguese patients with ataxia and ocular apraxia, an autosomal recessive form without the essential clinical and laboratory features of ataxia-telangiectasia. PATIENTS AND METHODS: We reviewed 22 patients in 11 kindreds, identified through a systematic survey of hereditary ataxias being conducted in Portugal. RESULTS: Age at onset ranged from 1 to 15 years, with a mean of 4.7 years. The duration of symptoms at the time of last examination varied from 5 to 58 years. All patients presented with progressive cerebellar ataxia, the characteristic ocular apraxia, and a peripheral neuropathy. Associated neurologic signs included dystonia, scoliosis, and pes cavus. Magnetic resonance imaging was performed in 16 patients, all of whom showed cerebellar atrophy. CONCLUSIONS: Ataxia with ocular apraxia may be more frequent than postulated before, and may be identified clinically using the following criteria: (1) autosomal recessive transmission; (2) early onset (for most patients in early childhood); (3) combination of cerebellar ataxia, ocular apraxia, and early areflexia, with later appearance of the full picture of peripheral neuropathy; (4) absence of mental retardation, telangiectasia, and immunodeficiency; and (5) the possibility of a long survival, although with severe motor handicap.

Adolescent↗
PubMed1992

Nursing process approach improves receivables management.

The "nursing process" is a systematic decision-making approach to problem solving based on open-system theory. This theory assumes that there is an on-going interchange between all system components. Components cannot be viewed in isolation, because decisions regarding one component will affect other components. Receivables management is similar to the nursing process, in that it involves constant diagnosis, assessment, and intervention in the work in process during all phases of the receivables cycle. In experiments that applied the nursing process concept to the management of accounts receivable in several hospitals, gross days in accounts receivable were reduced and cash flow was increased.

Accounts Payable and Receivable↗
PubMed1985

Heterogeneity of congenital motor and sensory neuropathies.

Six children suffering from a congenital motor and sensory neuropathy (CMSN) are described. Severe muscle hypotonia, areflexia and a delay of motor development are detectable in all of them. Sural nerve biopsies exhibited an almost complete absence of myelinated fibres and a correspondingly slow nerve conduction velocity (NCV) of less than 10 m/s was detectable in four patients. A few segments with hypermyelination adjacent to gross hypomyelination were seen in the fifth patient, and the NCV was 15 m/s. The sural nerve of the sixth patient showed a loss of thick myelinated nerve fibres, and his NCV was 25 m/s. These results demonstrate the histological heterogeneity of CMSN which was already detected by the NCV. The relation of our findings to the classification of HMSN by Dyck and Lambert (1968) is discussed.

Child↗
PubMed1983

A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases.

Thirty-five patients, exclusively girls, from three countries had a uniform and striking progressive encephalopathy. After normal general and psychomotor development up to the age of 7 to 18 months, developmental stagnation occurred, followed by rapid deterioration of higher brain functions. Within one-and-a-half years this deterioration led to severe dementia, autism, loss of purposeful use of the hands, jerky truncal ataxia, and acquired microcephaly. The destructive stage was followed by apparent stability lasting through decades. Additional insidious neurological abnormalities supervened, mainly spastic parapareses, vasomotor disturbances of the lower limbs, and epilepsy. Prior extensive laboratory investigations have not revealed the cause. The condition is similar to a virtually overlooked syndrome described by Rett in the German literature. The exclusive involvement of females, correlated with findings in family data analyses, suggests a dominant mutation on one X chromosome that results in affected girls and nonviable male hemizygous conceptuses.

Adolescent↗