A performance curve for assessing change in Percentage of Consonants Correct Revised (PCC-R).

PURPOSE: Interpreting the rapidly changing speech skills of young children recovering from neurological injury is difficult because developmental expectations are generally available only at relatively lengthy intervals (e.g., 6 or 12 months). In this research note, the authors describe the process of generating a Percentage of Consonants Correct-Revised (PCC-R; L. D. Shriberg, D. Austin, B. A. Lewis, J. L. McSweeny, & D. L. Wilson, 1997a) performance curve and illustrate some of its applications for assessing change in performance over time. METHOD: The authors compiled mean PCC-R scores from 16 samples of typically developing children (18-172 months) and used curve fitting to test more than 11,000 statistical models of monthly growth in PCC-R. They selected a parsimonious and developmentally plausible model with R(2) = .9839 (p < .0005) and used it to generate the PCC-R, standard deviation, and standard error expected at each monthly age. RESULTS: The PCC-R performance curve distinguished among 65 children (37-57 months of age) diagnosed independently with normal or disordered speech with a high degree of success. More important, the PCC-R performance curve can be used to identify the points at which children (18-172 months) recovering from neurological injury achieve normal-range consonant production. CONCLUSION: The curve-fitting approach holds promise as a means of interpreting temporal variations in speech production at a finer grain than existing normative data currently allow.     

Characteristics of apathy in Parkinson's disease.

The objective of this study was to use the Lille Apathy Rating Scale to assess apathy in a large population of Parkinson's disease (PD) patients and identify several different apathy profiles. One hundred fifty-nine patients with probable PD and 58 healthy controls participated in the study. Apathy was assessed using the Lille Apathy Rating Scale. Motor, cognitive, and depressive symptoms were rated on standardized scales. Data were analyzed using linear regression and multivariate analyses of variance. Thirty-two percent of the PD patients were classified as apathetic. Apathy was more frequent in patients with dementia. The four apathy dimensions contributed differently to the overall severity of the apathetic condition. Action initiation and intellectual curiosity had a marked influence. Linear regression analysis revealed that the apathy level was mainly determined by cognitive impairment, not associated with the severity of motor symptoms, and only associated with the apathy subcomponent of the Montgomery and Asberg Depression Rating Scale. Apathy is highly prevalent in PD patients. Apathy profiles vary according to the clinical presentation of PD. The high prevalence of apathy in PD suggests the involvement of frontal-subcortical circuits. Although the neurochemical substrate of apathy remains poorly characterized, the strong link between apathy and cognitive impairment observed in several studies suggests the participation of nondopaminergic circuits.     

Construction and validation of a Parkinson's disease mutation genotyping array for the Parkin gene.

Parkin mutations account for the majority of familial and sporadic early onset Parkinson's disease (EOPD) cases with a known genetic association. More than 100 mutations have been described in the Parkin gene that includes homozygous, compound heterozygous, and single heterozygous mutations. We have designed a Parkin mutation genotyping array (gene chip) that includes published Parkin sequence variants and allows their simultaneous detection. The chip was validated by screening 85 PD cases and 47 controls previously tested for Parkin mutations. Similar genotyping microarrays have been developed for other genetically heterogeneous diseases including age-related macular degeneration. Here, we show the utility of a genotyping array for Parkinson's disease by analysis of 60 subjects from the Genetic Epidemiology of Parkinson Disease (GEPD) study that includes 15 early-onset PD case probands and 45 relatives.     

Reconstruction of lateral skull base defects after tumor ablation.

Neoplasms located in the lateral skull base region present a challenge for evaluation and management due to their difficult anatomic location and the complex reconstruction that is required following extensive tumor resection. Repair following tumor ablation requires a watertight dural seal, obliteration of the dead space, and coverage with vascularized soft tissue. Advances in radiologic imaging, diagnostic pathology, and surgical techniques and a multidisciplinary team for tumor ablation and reconstruction have significantly improved the treatment of these patients, minimized the occurrence of postoperative complications, and maximized patient outcome and quality of life. In this article, we present our experience in the reconstruction of extensive lateral skull base defects after tumor ablation.     

The role of gastric pH testing with small-bore feeding tubes: in the intensive care unit.

In this observational study, we sought to assess the usefulness of pH values from residuals in intensive care unit (ICU) patients with small-bore feeding tubes. A review of the literature demonstrated that most critically ill patients were excluded in previous studies on gastric pH testing, suggesting that pH testing in critical care is not warranted. Our results demonstrated that 21% of intestinal testing and 64% of gastric testing yielded potential misinformation to the bedside nurse with regards to possible tube location. In conclusion, pH testing for small-bore tube placement and maintenance was not deemed meaningful in our critical care unit.     

A Disseminated Alveolar Rhabdomyosarcoma in a 9-Year-Old Boy Disclosed by Chromosomal Translocation (2;13) (q35;q14)

A 9-year-old boy presented with a small subcutaneous tumor of the trunk and diffuse bone marrow involvement. The first histological diagnosis given was undifferentiated malignancy possibly of neural crest origin and chemotherapy was started immediately using vincristine, cyclophosphamide, cisplatin, and teniposide (OPEC). Complete response was achieved after four courses of chemotherapy. Histological slides were then reviewed and the final diagnosis of alveolar rhabdomyosarcoma (RMS) was retained. Moreover, chromosome analysis of malignant cells in the bone marrow revealed a translocation involving chromosomes 2 and 13:t(2;13) (q35;q14). This specific karyotype finding has been recently reported in a few cases and could be specific for alveolar RMS. The patient had a relapse 7 months after diagnosis and died 4 months later.     

Ballon atrial septostomy under transesophageal echocardiographic guidance

Summary Balloon atrial septostomy is an established method of palliation for several forms of congenital heart disease. Previously performed under fluoroscopic x-ray control, recent reports have demonstrated the utility of transthoracic echocardiographic monitoring. We report the first application of uniplane transesophageal echocardiography (TEE) (6.7-mm probe) as an alternative imaging modality for control of ballon atrial septostomy on neonates in the intensive care unit.