Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation.

BACKGROUND AND OBJECTIVES: Locus heterogeneity is well established in autosomal recessive primary microcephaly (MCPH) and to date five loci have been mapped. However, the relative contributions of these loci have not been assessed and genotype-phenotype correlations have not been investigated. DESIGN: A study population of 56 consanguineous families resident in or originating from northern Pakistan was ascertained and assessed by the authors. A panel of microsatellite markers spanning each of the MCPH loci was designed, against which the families were genotyped. RESULTS: The head circumference of the 131 affected subjects ranged from 4 to 14 SD below the mean, but there was little intrafamilial variation among affecteds (+/- 1 SD). MCPH5 was the most prevalent, with 24/56 families consistent with linkage; 2/56 families were compatible with linkage to MCPH1, 10/56 to MCPH2, 2/56 to MCPH3, none to MCPH4, and 18/56 did not segregate with any of the loci. CONCLUSIONS: MCPH5 is the most common locus in this population. On clinical grounds alone, the phenotype of families linked to each MCPH locus could not be distinguished. We have also shown that further MCPH loci await discovery with a number of families as yet unlinked.

A case management tool for occupational health nurses: development, testing, and application.

1. Case management is a process of coordinating an individual client's health care services to achieve optimal, quality care delivered in a cost effective manner. The case manager establishes a provider network, recommends treatment plans that assure quality and efficacy while controlling costs, monitors outcomes, and maintains a strong communication link among all the parties. 2. Through development of audit tools such as the one presented in this article, occupational health nurses can document case management activities and provide employers with measurable outcomes. 3. The Case Management Activity Checklist was tested using data from 61 firefighters' musculoskeletal injury cases. 4. The activities on the checklist are a step by step process: case identification/case disposition; assessment; return to work plan; resource identification; collaborative communication; and evaluation.

Defining and treating "problem patients" in a hospital emergency room.

Emergency ward doctors and nurses define patients whose illnesses require prolonged and comprehensive care as threats to the mission of the ward. Data were collected by means of direct observation and interviewing of emergency ward doctors and nurses in a 600-bed hospital in the Midwestern United States. In 1973, a total of 270 hours of observational data was collected as part of a larger study of emergency ward social organization. In a setting specializing in emergency treatment of the acutely ill and injured, the presence of the alcoholic, the emotionally disturbed, and the mentally ill patient represent an exercise in futility for emergency ward doctors and nurses. Since these patients often present behavior problems on the ward, one way for medical staff to cope with such patients is to define these patients as management problems rather than as medical cases to be diagnosed and treated. Success or failure with management problems is no longer based on medical criteria, but upon the outcome of management activities. The most successful outcomes are those where the amount of patient's disruptive behavior and the amount of staff time and resources devoted to the patient are held to a minimum.