Kidney stones,carbonic anhydrase inhibitors,and the ketogenic diet

PURPOSE: Because carbonic anhydrase inhibitors and the ketogenic diet are each known risk factors for kidney stones, simultaneous use of these therapies has been discouraged. The objective of this study was to establish the prevalence of nephrolithiasis in children in this combination-therapy population. METHODS: Since 1996, 301 children have been started on the ketogenic diet at our institution. A retrospective cohort study of renal calculi in ketogenic diet patients was performed to evaluate the increased risk with combined use of a carbonic anhydrase inhibitor. RESULTS: In 15 (6.7%) of 221 children on the ketogenic diet without the use of carbonic anhydrase inhibitors, stones developed. In five (6.3%) of the 80 children on the diet in combination with topiramate or zonisamide, stones developed. There was no difference between these two groups (p = 0.82). No child was treated with either acetazolamide or more than one carbonic anhydrase inhibitor simultaneously. Prior ketogenic diet duration was shorter (10.4 vs. 22.4 months; p = 0.03), and more children had either a family history of renal stones or significant urologic abnormalities (80 vs. 27%; p = 0.04) in the combination-therapy group. CONCLUSIONS: The combined use of carbonic anhydrase inhibitors and the ketogenic diet does not increase the risk of kidney stones. We recommend that all patients treated with combination therapy should be treated with increased hydration. Urine alkalinization should be considered for children with previous renal abnormalities, family histories of kidney stones, hematuria, or elevated urine calcium-to-creatinine ratios. If renal stones are found, we advocate discontinuation of the carbonic anhydrase inhibitor.     

Chronic eosinophilic perimyositis with persistent myalgias

A 43-year-old man with an 8-year history of hypereosinophilia was evaluated for persistent muscle pain. Methotrexate and corticosteroids were ineffective. Examination, limited by pain even with passive motion, showed only mild weakness. Electromyography and muscle enzymes were normal. A needle muscle biopsy specimen revealed eosinophilic perimyositis. This case illustrates that the diagnosis of eosinophilic perimyositis requires histopathological evaluation, which should be pursued in patients with eosinophilia and persistent myalgia despite normal electromyography and muscle enzymes.     

Keratoacanthomas frequently show chromosomal aberrations as assessed by comparative genomic hybridization

Keratoacanthomas are commonly occurring benign skin lesions localized to sun-exposed areas. They typically develop rapidly and may show cellular atypia and infiltration like cutaneous squamous cell carcinomas, but they finally regress spontaneously. This benign lesion shows a high degree of genetic instability as assessed by comparative genomic hybridization, with 35.7% (25 of 70) of the analyzed lesions harboring chromosomal aberrations. The same frequency of genetic imbalance was found in lesions from immunosuppressed organ transplant recipients (36.4%, 20 of 55) and in patients with keratoacanthomas without immunosuppression (33.3%, five of 15), indicating a common pathway in both situations. Recurrent aberrations, given as a fraction of lesions with aberrations, were gains on 8q (20.0%), 1p and 9q (each 16.0%), and deletions on 3p (20.0%), 9p (20.0%), 19p (20.0%), and 19q (16.0%). Many of the most frequently appearing aberrations in keratoacanthomas were not detected in any of the 10 squamous cell carcinomas analyzed, whereas some aberrations were shared by both types of lesions. Aberrations were found in early and late stages of keratoacanthoma development, indicating a role for genetic instability in the progression as well as involution of keratoacanthomas. There were no significant correlations between cytologic atypia and genetic imbalance, or between degree of infiltration and genetic aberrations, although there was a trend for keratoacanthomas with severe atypia to have aberrations. Thus malignant phenotypic development does not appear to be driven by the detected genetic aberrations. More detailed studies of chromosomal areas with recurrent aberrations are needed for the localization of putative genes that determine the biologic behavior of keratoacanthomas, and that may distinguish them from squamous cell carcinomas.     

Ventricular and periventricular structural volumes in first- versus multiple-episode bipolar disorder

OBJECTIVE: Ventriculomegaly has been reported in bipolar disorder, although whether it occurs at illness onset or progresses during the course of the disorder is unknown. In addition, it is unknown whether ventriculomegaly in bipolar disorder reflects acquired volume loss or underdevelopment of periventricular structures. METHOD: Magnetic resonance imaging was used to measure the volumes of the lateral and third ventricles and periventricular structures (caudate, putamen, thalamus, hippocampus). Patients with DSM-IV bipolar disorder, 18 who were having a first episode and 17 with multiple episodes, were compared with 32 healthy subjects. RESULTS: The lateral ventricles were significantly larger in the patients with multiple-episode bipolar disorder than in the first-episode patients or the healthy subjects, even after periventricular and total cerebral volumes were taken into account. Having larger lateral ventricles was associated with a higher number of prior manic episodes. The multiple-episode patients had a smaller total cerebral volume than the healthy subjects but not the first-episode patients. The putamen was significantly larger in the first-episode patients (and nearly so in the multiple-episode patients) than in the healthy subjects, although there was no difference between patient groups. CONCLUSIONS: Lateral ventriculomegaly was greater in bipolar disorder patients who had had repeated manic episodes, but it does not appear to be secondary to small critical periventricular structures. A larger than normal striatum, which has been reported in previous studies, was observed in first-episode patients. These results support the importance of prospectively studying neuroanatomic changes in bipolar disorder.     

Predicting motor decline and disability in Parkinson disease: a systematic review

CONTEXT: The clinical course of Parkinson disease (PD) varies from patient to patient. A number of studies investigating predictors of prognosis in patients with PD have been performed. OBJECTIVE: To summarize evidence on predicting the rate of motor decline and increasing disability in early PD. DATA SOURCES: English-language and French-language literature cited in the MEDLINE database (1966-2002). STUDY SELECTION: Cohort and case-control studies investigating associations between clinical features and subsequent motor impairment or disability were selected. DATA EXTRACTION: Study methods and results were abstracted by a single reviewer. DATA SYNTHESIS: The results of 13 studies were summarized qualitatively. Study methods were highly variable, particularly regarding the choice of outcome measure. Baseline motor impairment and cognitive impairment are probable predictors of more rapid motor decline and disability. A lack of tremor at onset and older age both appear to be predictive of increasing disability, but conflicting results exist for their association with the rate of change of motor impairment. Family history of PD does not appear to be prognostically important. The prognostic value of many other factors studied is uncertain owing to conflicting or unconfirmed results. CONCLUSIONS: Uncertainty remains about the prognostic importance of many baseline clinical features in PD. Greater baseline impairment, early cognitive disturbance, older age, and lack of tremor at onset appear to be adverse prognostic factors.     

Comparison of functional activity performance in normally developing children and children with cerebral palsy

OBJECTIVE: To compare the pattern of self-care performance in normal children and children with cerebral palsy (CP). METHOD: 142 normal children and 33 children with CP were evaluated by 22 items from the self-care scale of the PEDI functional test. Rasch methodology transformed scores into interval measures of difficulty from 0 to 100 (logit). Spearman rank correlation coefficient compared the order of logits in the two groups. RESULTS: Eleven items showed significant differences in the logit values received. Out of these, 7 items showed relative difficulty values greater in the group of children with CP and 4 items showed relative difficulty values greater among normal children. A significant correlation was observed in the order of the 22 items displayed in the two interval scales. CONCLUSION: The results suggest that the development of self-care functional activities may be influenced by the presence of CP. These results may support assessment and intervention strategies for children with neuromotor disorders.     

Schistosomiasis of the spinal cord: analysis of 80 cases

To outline through clinical-laboratorial analysis a profile of schistosomiasis of the spinal cord (SSC) that contributes to the diagnosis and treatment of this disease. 80 patients were studied (59 prospectively), and epidemiological, clinical,laboratorial, treatment and outcome data extracted. In 79 patients the diagnosis was presumptive and obeyed rigorous criteria. There was a predominance of male sex (68.7%), age group from 21 to 40 years (63.7%), Northeasterners (85%), building construction workers (31.2%), previous abdominal effort (57.5%), subacute beginning (61.2%), myeloradiculitis form and lesion in conus and cauda equina (72.5%). Cerebral spinal fluid showed lymphomononuclear pleocytosis and protein increase in 100% of the cases as well as gamma globulin in 76.5%, positiveness of immunofluorescence reaction and/or ELISA for schistosomiasis in 100% of the cases with average titles of 1/16 and 61 u/dl, respectively. Corticosteroids and antischistosomal drugs were given to all patients with a satisfactory outcome in 80% of the cases. We emphasize the importance of a precocious treatment to avoid irreversible deficits such as paraplegia or sexual impotence.