Daniel DeFalco

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We describe an Italian male patient, deceased at 29 years of age, affected with a syndrome characterized by childhood-onset seizures, mental disorders, motor dysfunction and bilateral palatal myoclonus. Skeletal X-ray examination showed diffuse osteopenia of the tubular bones, and cyst-like lesions in the carpal, metacarpal and tarsal bones bilaterally and(More)
We describe two brothers with an autosomal recessive syndrome characterized by neonatal onset, severe impairment of cognitive and motor functions, abnormal ocular movements and slight dystonic postures. Brain MR and CT scan showed a reduction in size of the cerebellum and to a lesser extent pons, accompanied by cerebral and cerebellar white matter(More)
We report biochemical, morphological and neuroradiological findings in a 40-year-old woman affected with type I sialidosis. The clinical symptoms, consisting of a cerebellar syndrome, were first noted at the age of 17 years. The macular cherry-red spot was first observed after 23 years of disease. A CT scan performed at 21 years of age showed enlargement of(More)
We report an Italian family in which molecular genetic analysis showed expansion of CAG repeats indicative of the SCA2 genotype. This family confirms that ataxia, ophthalmoparesis and sensory peripheral neuropathy are the salient features of the SCA2 phenotype. In the present cases, early onset and mental deterioration were important additional findings.(More)
We report two siblings with a hitherto undescribed syndrome of autosomal recessive spastic paraparesis accompanied by amyotrophy of hands and feet, and mental deterioration. Laboratory tests showed signs of lower motoneuron involvement in the four limbs, more accentuated in the distal regions. Brain MR showed bilateral symmetrical white matter lesions. We(More)
BACKGROUND Pre-dialysis chronic kidney disease (CKD) care impacts dialysis start and incident dialysis outcomes. We describe the use of late stage CKD population data coupled with CKD case management to improve dialysis start. METHODS The Renal Care Coordinator (RCC) program is a nephrology practice and Fresenius Medical Care North America (FMCNA)(More)
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