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Biomedical subjects

E S Ruppert

Publications and source records attributed to E S Ruppert.

At least 19 recordsLinked to original sources
PubMed1999

American Academy of Pediatrics. Committee on Children With Disabilities. Care coordination: integrating health and related systems of care for children with special health care needs.

Care coordination is a process that links children with special health care needs and their families to services and resources in a coordinated effort to maximize the potential of the children and provide them with optimal health care. Care coordination often is complicated because there is no single entry point to multiple systems of care, and complex criteria determine the availability of funding and services among public and private payers. Economic and sociocultural barriers to coordination of care exist and affect families and health care professionals. In their important role of providing a medical home for all children, primary care pediatricians have a vital role in the process of care coordination, in concert with the family.

Case Management↗
PubMed1993

Primary congenital rhabdoid tumor of the brain with neoplastic hydranencephaly.

A child with shunted hydranencephaly and presumed ventriculitis was found to have a primary congenital rhabdoid tumor (RT) of the brain. The child died and a complete autopsy was carried out. The cerebral hemispheres were replaced by a single thin-walled cavity studed with tumor nodules and filled with thick, viscous fluid. The posterior fossa and visceral organs were free of tumor. This case is unique because the rhabdoid tumor was primary to the brain, it was congenital, and it massively replaced the cerebral hemispheres, causing hydranencephaly. Only three other cases of primary RT of the brain with complete autopsy examination have been reported. Cases of congenital rhabdoid tumors are not known in the literature. Hydranencephaly with a highly proteinaceous fluid should alert the physician to the possibility of a neoplasm. When the fluid in presumed ventriculitis is sterile, cerebral biopsy should be considered.

Biomarkers, Tumor↗
PubMed1992

Ohio's infant hearing screening and assessment program. A decade in development.

The early detection of hearing impairments in infants is essential to the initiation of medical and educational services which will enhance optimal development of communication and social skills. Ohio has successfully implemented a legislatively mandated two-tiered Infant Hearing Screening and Assessment Program. This statewide screening program is in accordance with the child find and early intervention services requirements of P.L. 99-457.

Child Health Services↗
PubMed1992

Participation by pediatricians in early intervention: impetus from Public Law 99-457.

Part H of the Individuals with Disabilities Education Act (originally enacted as Public Law 99-457) requires that participating states phase in a system of early intervention services by 1993. By recognizing the importance of good health in the development of infants and toddlers, Congress acknowledged the key role of medical care providers in a comprehensive program for young children with or at risk for developmental delay or dysfunction. National and state surveys of pediatricians suggest limited but growing awareness of this legislation and uncertainty about how they might participate effectively. A chief concern relates to mechanisms of payment for developmental screening and assessment as well as time-demands for participation in interdisciplinary team activities. The American Academy of Pediatrics and its state chapters are responding to requests for information with educational seminars and print materials. Pediatricians can enhance the quality of community support services for children with special needs by participating in planning efforts and by coordinating health care with other aspects of early intervention. Other professionals and parents are looking to pediatricians for leadership and willing participation in the implementation of PL 99-457.

Child↗
PubMed1989

Expanding the phenotype of the Proteus syndrome: a severely affected patient with new findings.

Here we report on a boy who died at 16 1/2 months with hemihypertrophy, eye abnormalities, macrodactyly, hamartomas, pigmented nevi, cerebral involvement, and other anomalies compatible with the Proteus syndrome. In addition, he also had abnormalities previously unreported in the Proteus syndrome including craniosynostosis and complex congenital heart defects. He seems to represent an extremely severe form of the Proteus syndrome and expands the already broad range of the phenotype.

Abnormalities, Multiple↗
PubMed1987

School nurses' perceptions of childhood obesity.

A random sample of 250 nurses from the American School Health Association membership were sent a questionnaire concerning childhood obesity; 88% responded. Most (85%) believed normal weight was important to children's health and that school nurses should be role models by maintaining normal weight (77%). Most also believed counseling children and their parents about weight loss was difficult (71%) and that schools need to do more to alleviate childhood obesity (65%). At least 75% believed all schools should offer a comprehensive health curriculum with units on nutrition and weight control. Likewise, all schools should eliminate "junk food" machines and make special low-calorie lunches available. Only 25% felt competent to prescribe weight loss programs for children, and only 30% found counseling about weight loss professionally gratifying. One-fourth believed, that with proper guidance, children could lose significant amounts of weight or maintain that weight loss. The nurses believed in the importance of normal weight, but appeared skeptical of children's abilities to lose weight as well as their own abilities to provide children with guidance to do so. Finally, they perceived a need for schools to be more active and involved in dealing with childhood obesity.

Adult↗
PubMed1986

Duplication (12q) syndrome in female cousins, resulting from maternal (11;12) (p15.5;q24.2) translocations.

We have studied female cousins with partial duplication of 12q. The cousins' mothers (who are sisters) and the maternal grandmother and great grandmother carried a balanced translocation between chromosomes 11 and 12. We have compared our patients with eight other reported cases of partial duplication of the same chromosome segment (12q24----12qter). Placement of the extra material seems to have little effect on the anomalies present; (only two other cases involved chromosome 11). We propose that our patients provide further evidence that duplication of 12q leads to a clinically identifiable syndrome.

Abnormalities, Multiple↗
PubMed1984

Language disorders and behavioral problems in preschool children.

Preschoolers who present with resistant behavioral problems may have an accompanying language disorder. This paper describes a representative case of a child whose behavioral problem improved subsequent to identification of a language disorder, modification in parents' expectations and responses, and involvement in early education. Possible relationships among behavioral and language disorders, attentional and activity problems, and otitis media are discussed, and recommendations for early diagnosis and remediation are presented.

Attention Deficit Disorder with Hyperactivity↗
PubMed1982

Assessing the predictive validity of developmental milestones.

Parental report of development milestones influences the physician's decision to refer for developmental evaluation and early education. The predictive validity of commonly reported milestones was evaluated by collecting data from records in a comprehensive care clinic. Multivariate analyses determined the relationships among age of milestone achievement and Wechsler intelligence Scale for Children-Revised (WISC-R) intelligence quotient (IQ) scores. Other routinely collected medical and demographic information was then added, and stepwise regressions determined the best combinations of predictors of WISC-R IQ scores. Milestones alone predicted 24 to 42% of the variance in WISC-R IQ scores, suggesting that there are meaningful relationships between the age of attainment of milestones and later intellectual functioning. However, when other medical and demographic information was added to the prediction equation, the predictive power of milestones was overshadowed by that of the new variables. Milestones are validated as one criterion for referral for specialized early development services, but adding other objective data, including standardized developmental screening, is recommended for optimal decision making.

Adolescent↗
PubMed1981

Dystrophic epidermolysis bullosa.

The three forms of dystrophic epidermolysis bullosa include the autosomal recessive form and two autosomal dominant variants, the Cockayne-Touraine and Pasini forms. Whereas all three forms are clinically characterized by milia, nail dystrophy, and scarring, the autosomal recessive form tends to be the most mutilating with frequent mucosal lesions. The Pasini variant often has generalized blistering commonly associated with mucosal involvement but to a lesser degree. The Cockayne-Touraine variant is usually localized to the extremities and tends to be the mildest form of dystrophic epidermolysis bullosa. Ultrastructurally, the blister is located below the basal lamina in all three variants. The anchoring fibrils are either absent or hypoplastic in each condition. The autosomal recessive form alone also demonstrates dermal collagenolytic activity. The ultrastructural differentiation between the two forms of the dominant dystrophic epidermolysis bullosa depends on a quantitative rather than qualitative assessment of the anchoring fibrils.

Adult↗