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Biomedical subjects

K Silver

Publications and source records attributed to K Silver.

71 records · Page 4Linked to original sources
PubMed1990

Congenital inflammatory myopathy.

We present 3 patients with congenital inflammatory myopathy and summarize the literature. CNS involvement (microcephaly/intellectual delay) may or may not be present. Serum creatine kinase activity is elevated, the EMG is myopathic, and the muscle biopsy reveals inflammatory infiltrates, muscle fiber damage, and class I major histocompatibility complex products in muscle sarcolemma. Possible etiologies include intrauterine viral infection or an autoimmune process. Treatment with steroids may result in some motor improvement but has no effect on the CNS involvement. Despite a common time of presentation, these patients have a heterogeneous clinical profile, often suggesting a congenital muscular dystrophy syndrome.

Female↗
PubMed1989

Generalized cortical dysplasia manifested by diffusely thick cerebral cortex.

Unilateral or bilateral rolandic macrogyria has been described as a cause of epilepsy and, in some cases, retardation. Tissue from the periphery of these lesions shows the changes of focal cortical dysplasia. Evidence reported herein suggests that cortical dysplasia may also be generalized. Two patients with intractable epilepsy and mental retardation had diffusely abnormal, thick cortex, shallow gyri, and poor demarcation of gray and white matter. One patient had an anterior callosotomy that led to considerable improvement of the epilepsy. Cortical layers 5 and 6 could not be differentiated on biopsy material. The white matter was poorly myelinated and contained clusters of heterotopic neurons. This syndrome, a congenital disorder of neuronal migration, with prolonged survival, represents a mild form of lissencephaly. It can be diagnosed during life by computed tomography or magnetic resonance scanning.

Adolescent↗
PubMed1989

Slowly progressive macrocephaly with hamartomas: a new syndrome?

We report on an 8 1/2-year-old boy with slowly progressive macrocephaly, psychomotor retardation, multiple subcutaneous angiolipomas, hypertelorism, exotropia, prolonged drooling, cutis marmorata, telangiectasia, congenital heart defect, broad thumbs and great toes, and muscle wasting. The syndrome is similar to the Bannayan-Zonana syndrome and seems to be inherited as an autosomal dominant trait. The father has partial manifestations of the syndrome.

Abnormalities, Multiple↗
PubMed1987

Subacute necrotizing encephalomyelopathy (Leigh disease): CT study.

Leigh disease, or subacute necrotizing encephalomyelopathy (SNE), is a familial, degenerative disorder characterized by lesions of the gray and white matter in the brain and spinal cord. Low attenuation in the putamina on computed tomography (CT) scans is considered to be characteristic of the disease. The authors used CT to study five patients, in three of whom the disease was confirmed histologically. In one of the patients with documented SNE, there was extensive gray matter lucency with normal basal ganglia. CT scans obtained in a second patient showed diffuse, diseased white matter with focal cortical extension and bilateral caudate involvement. In the other three cases, CT scans revealed the usual changes that occur in the basal ganglia. The appearance of SNE on CT scans thus reflects the variable and widespread distribution of the disease. The absence of radiologically detectable abnormalities in the basal ganglia should not deter one from the diagnosis of Leigh disease given in the appropriate clinical context.

Basal Ganglia↗
PubMed1986

Admission: the consumer's first impression.

In today's changing healthcare economy, it's critical for a hospital to attract and retain a client base. The healthcare consumer's choice of hospital is based on their perception of the quality of care. Although virtually all hospitals espouse excellence in care, the consumer's perception must agree or they will go elsewhere. First impression of the hospital begins with admission. This article describes the interactive approach taken by Northside Hospital in Atlanta, Georgia to solve admission/discharge problems.

Georgia↗
PubMed1985

Comparison of hydroxychloroquine and chloroquine use and the development of retinal toxicity.

We assessed the frequency of retinal toxicity in patients receiving either chloroquine or hydroxychloroquine and factors which may predict patient susceptibility to toxicity. The overall frequency of retinopathy was 6% (7 of 110 patients). Of the 31 patients receiving chloroquine alone, 6 developed toxicity (19%). In contrast, of the 66 patients receiving hydroxychloroquine, none developed retinopathy. Retinopathy was associated with greater age and with greater accumulative doses of chloroquine. Thus, hydroxychloroquine can be used safely with minimal risk of toxicity.

Adult↗
PubMedDate not supplied

Molecular scanning of the beta-3-adrenergic receptor gene in Pima Indians and Caucasians.

BACKGROUND: The beta-3-adrenergic receptor (beta3AR) stimulates lipolysis and thermogenesis in adipocytes. The Trp64Arg beta3AR variant is associated in some, but not all, studies with an earlier onset of Type 2 diabetes mellitus and features of the insulin resistance syndrome. Functional studies as to the role of the Trp64Arg variant have been inconclusive. Earlier studies screened the beta3AR gene in only ten obese, diabetic Pima Indians. Potentially another yet to be identified polymorphism in the beta3AR gene in linkage disequilibrium with the Trp64Arg polymorphism could explain the findings in the association and functional studies. METHODS: We scanned the beta3AR gene in 20 diabetic Pima subjects and 20 Caucasian subjects using single stranded conformational polymorphism (SSCP) analysis. Variants were sequenced using dideoxy sequence analysis and further characterized using allele specific oligonucleotide hybridization (ASO) and RNA template specific-polymerase chain reaction (RS-PCR) assays. RESULTS: We found a guanine to thymidine substitution in the first intron, 14 bases from the splice donor site in both groups. In virtually all subjects, only two haplotypes were detected, Trp64/g1856 and Arg64/t1856, indicating that the g1856t polymorphism is in linkage disequilibrium with the Trp64Arg polymorphism. The g1856t substitution introduces a new consensus splice donor site which, if used, would encode a truncated protein. RNA levels of the two beta3AR alleles were approximately equal in omental adipose tissue of heterozygotes. No aberrantly spliced beta3AR mRNA was detected, indicating that the new consensus splice donor site is not used in vivo. CONCLUSION: The g1856t polymorphism is in linkage disequilibrium with the Trp64Arg variant, but does not appear to have a functional role.

Amino Acid Substitution↗
PubMedDate not supplied

Neonatal dural sinus thrombosis.

Dural sinus thrombosis in the newborn period has been infrequently documented and its clinical presentation remains obscure. Seventeen patients, all of whom were born at term with dural sinus thrombosis diagnosed in the neonatal period, were retrospectively identified and reviewed. Diagnosis was determined by unenhanced computed tomography which demonstrated a dense sagittal sinus with concomitant small ventricles. Two patients had ancillary studies (i.e., cerebral angiography and nuclear flow scan) which confirmed the diagnosis. Only 4 patients had evidence of perinatal asphyxia. Three patients were identified as having associated conditions known to predispose them to dural sinus thrombosis. None of the patients tested had an identifiable hypercoagulable state. Neonatal seizures were the initial presentation in 15 patients. Seizure onset predominantly occurred during the first week of life. Subsequent examinations were available in all 17 patients and ranged up to 6 years. Only 3 patients had seizures beyond the neonatal period. In 11 of 12 infants with no history of perinatal asphyxia, neurodevelopmental outcomes were normal. Two of 4 infants with perinatal asphyxia had neurologic sequelae. Dural sinus thrombosis represents an important and under-recognized cause of neonatal seizures in term infants. In the absence of perinatal asphyxia, normal neuro-developmental outcome is likely and the risk of seizure recurrence is low.

Cerebral Veins↗
PubMedDate not supplied

Transient oculosympathetic paresis (group II Raeder paratrigeminal neuralgia) of childhood: migraine variant.

Although a recognized migrainous phenomenon in adults, transient oculosympathetic paresis in childhood has been rarely observed. Six pediatric patients are reported with transient oculosympathetic paresis occurring within the context of characteristic vascular headaches. The clinical profiles of the patients suggest transient dysfunction of third-order ocular sympathetic pathways and represent most likely a benign, self-limited variant of pediatric migrainous neuralgia.

Adolescent↗
PubMedDate not supplied

The diagnostic yield of the nerve-muscle skin biopsy in paediatric neurology practice. The Montreal Children's Hospital Neuromuscular Group.

OBJECTIVE: To determine the diagnostic yield of the nerve-muscle-skin (NMS) biopsy in paediatric neurology practice. STUDY DESIGN: A consecutive series of 98 paediatric NMS biopsies done 1989-1994 retrospectively reviewed in the context of pre-biopsy clinical and laboratory parameters. Bivariate associations based on chi-square test. Unconfounded associations between pre-biopsy variables and positive diagnostic yield (PDY) assessed by multiple logistic regression. RESULTS: Fifty seven out of 98 patients central (global delay, seizures, abnormal CNS imaging) process; 41/98 patients peripheral (motor delay, weakness) process, electromyography-nerve conduction studies (EMG-NCS) 87/98 cases; abnormal 43/87. Positive diagnostic yield (PDY) in 42/98 (43%) biopsies. Statistically significant bivariate associations between PDY and pre-biopsy; age, presenting symptom, developmental delay, weakness, reflexes, CPK, lactate, EMG-NCS and process. Unconfounded associations demonstrated with PDY and age, reflexes and process. The presence of a peripheral process or an abnormal EMG-NCS strongly predictive of PDY: 34/41 (83%) peripheral process cases had PDY, 32/40 (80%) abnormal EMG-NCS cases had PDY, and 29/31 (93.5%) peripheral process and abnormal EMG-NCS cases had PDY. Abnormal EMG-NCS with central process improved PDY to 3/9 (33%) from 4/37 (11%) for normal EMG-NCS. CONCLUSION: NMS biopsy is a valuable diagnostic tool, particularly in the context of a suspected peripheral process or a central processes with an abnormal EMG-NCS.

Biopsy↗
PubMedDate not supplied

The yellowed archives of yellowcake.

Extensive historical documentation of exposures and releases at government-owned energy facilities is a unique and valuable resource for analyzing and communicating health risks. Facilities at all stages of the atomic fuel cycle were the subject of numerous industrial hygiene, occupational health, and environmental assessments during the Cold War period. Uranium mines and mills on the Colorado Plateau were investigated as early as the 1940s. One such facility was the mill in Monticello, Utah, which began operation as a vanadium extraction plant in 1943 and was later adapted to recover uranium from carnotite ores. The mill ceased operation in 1960. The site was added to the federal Superfund list in 1986. ATSDR held public availability sessions in 1993 as part of its public health assessment process, at which several former mill workers voiced health concerns. An extensive literature search yielded several industrial hygiene evaluations of the Monticello mill and health studies that included Monticello workers, only two of which had been published in the peer-reviewed literature. In combination with the broader scientific literature, these historical reports provide a partial basis for responding to mill workers' contemporary health concerns. The strengths and limitations of the available exposure data for analytical epidemiologic studies and dose reconstruction are discussed. As an interim measure, the available historical documentation may be especially helpful in communicating about health risks with workers and communities in ways that acknowledge the historical context of their experience.

Chronic Disease↗