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C Levine

Publications and source records attributed to C Levine.

87 records · Page 5Linked to original sources

New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum.

We report on 4 generations in a family with 3 living males, 3 males who died in infancy, and 3 females with neurologic impairment and agenesis of the corpus callosum (ACC). Manifestations in the surviving males include severe acquired micrencephaly, mental retardation, limb contractures, scoliosis, tapered digits with hyperconvex nails, a characteristic face with large eyes, prominent supraorbital ridges, synophris, optic atrophy, broad alveolar ridges and seizures. Urologic anomalies include renal dysplasia, cryptorchidism, and hypospadias. Two affected females were less severely impaired and continued to be socially responsive as adults, but had spastic quadriplegia and seizures. One obligate heterozygote was retarded with emotional problems while another obligate carrier female and her daughter were clinically normal. Pedigree analysis suggested X-linked inheritance with variable expression in females. These findings are inconsistent with the well-described X-linked conditions with ACC including FG syndrome and Aicairdi syndrome. ACC has not been described in Coffin-Lowry syndrome, a condition with similar clinical findings, which also demonstrates marked variability of expression in carrier females. In order to assist in carrier determination, brain imaging studies and DNA linkage analysis of the affected relatives was performed. We found a spectrum of agenesis of the corpus callosum with the most severe manifestations in the most severely affected males. DNA analysis using a series of X-linked probes suggests linkage with a LOD score of 1.26 at theta = 0 to a region between p 11.3 and p 21.3.

Adolescent↗

Guidelines for Confidentiality in Research on AIDS.

The identification of Acquired Immune Deficiency syndrome (AIDS) three years ago has created a crisis of confidence. Persons with AIDS and others who might be research subjects recognize that research is essential to understand, treat, and prevent this devastating disease, yet they are concerned that information divulged for research purposes might be used in ways detrimental to their interests. Unless they have confidence in the system designed to protect their privacy and in the people to whom personal information is entrusted they may provide invalid or incomplete data. The problem, then, is: What procedures and policies will both protect the privacy interests of research subjects and enable research to proceed expeditiously? Now that major research efforts are being undertaken to tackle the many puzzling aspects of AIDS, this question has become an urgent one. These guidelines, developed by a multidisciplinary group representing diverse professional, public and social interests, are designed to provide the basis for the cooperation of the research community and the subjects of AIDS research. Addressed to research institutions, individual researchers, institutional review boards and public health departments, the recommendations seek changes deemed necessary to afford the fullest degree of protection for confidentiality compatible with sound scientific research.

Acquired Immunodeficiency Syndrome↗

Cervical presentation of a large thymic cyst: CT appearance.

Large cystic masses presenting in the neck are usually the result of a developmental anomaly of the pharyngeal pouches and branchial clefts or are cystic hygromas. We present a cyst arising from vestigial thymic remnants in the neck.

Adolescent↗

Renal lymphoma in ataxia-telangiectasia: CT contribution.

Ataxia-telangiectasia (AT) or the Louis-Bar syndrome is a familial, multisystem disorder. Patients with the disease are at high risk for malignancy, in particular lymphoreticular neoplasms, and immunodeficiency, rendering them susceptible to infection. We present a 17-year-old girl with AT and a history of lymphoma who developed a persistent fever. An isolated renal mass was discovered by abdominal ultrasound and CT. Although the diagnosis of renal lymphoma is strongly suggested by these modalities, other types of renal mass lesions, including renal infection, may occur in patients with AT and ultimately a definitive diagnosis may only be established by biopsy.

Adolescent↗

Small pediatric renal neoplasms detected by CT.

We describe three children without renal symptoms who had small solitary renal neoplasms detected by CT during a 1 year period. One patient had a benign Wilms tumor variant, another had a renal cell carcinoma, and the third had a solitary focus of renal lymphoma. Although CT helps in preoperative tumor staging and in evaluating the contralateral kidney, it usually cannot distinguish among the various pediatric renal neoplasms. Accordingly, surgical exploration is usually required when a small renal tumor is discovered in a child. When confined to the kidney, small Wilms tumors and renal cell carcinomas are often amenable to local resection or partial nephrectomy.

Adolescent↗

The economic value of informal caregiving.

This study explores the current market value of the care provided by unpaid family members and friends to ill and disabled adults. Using large, national data sets we estimate that the national economic value of informal caregiving was $196 billion in 1997. This figure dwarfs national spending for formal home health care ($32 billion) and nursing home care ($83 billion). Estimates for five states also are presented. This study broadens the issue of informal caregiving from the micro level, where individual caregivers attempt to cope with the stresses and responsibilities of caregiving, to the macro level of the health care system, which must find more effective ways to support family caregivers.

Caregivers↗

Estimates of the number of motherless youth orphaned by AIDS in the United States.

OBJECTIVE: To estimate the number of youth in the United States who have been or will be left motherless by the human immunodeficiency virus/acquired immunodeficiency syndrome (HIV/AIDS) epidemic, in order to project the need for family supports, age-appropriate foster and congregate care, and mental health and social services. DESIGN: Orphans are defined as youth whose mothers (the usual caregiving parent) die of HIV/AIDS-related causes. A mathematical model was constructed to estimate the number of such motherless youth. Cumulative fertility rates were applied to the number of reported AIDS deaths (1981 through 1990) and projected deaths (1991 through 1995) of adult women less than 50 years old. The results were adjusted for underreporting of HIV/AIDS-related mortality, pediatric AIDS deaths, infant mortality, ethnic and racial variation in fertility, and decreased fertility associated with late-stage HIV disease. Estimates were made for the number who were children (less than 13 years of age), adolescents (13 to 17 years of age), or young adults (18 years of age or older) at the time of their mothers' death. RESULTS: By the end of 1995, maternal deaths caused by the HIV/AIDS epidemic will have orphaned an estimated 24,600 children and 21,000 adolescents in the United States; unless the course of the epidemic changes dramatically, by the year 2000, the overall number of motherless children and adolescents will exceed 80,000. In 1991, an estimated 13% of US children and 9% of adolescents whose mothers died of all causes were children of women who died of HIV/AIDS-related diseases. These proportions will surpass 17% and 12%, respectively, by 1995. The vast majority of these motherless youth will come from poor communities of color. CONCLUSIONS: A large and rapidly growing number of American youth are being orphaned by the HIV/AIDS epidemic. Unless increased attention and resources are devoted to this vulnerable population, a social catastrophe is unavoidable.

Acquired Immunodeficiency Syndrome↗