ABSTRACT
OBJECTIVE: Sanfilippo B is a rare autosomal recessive mucopolysaccharidosis (MPS IIIB) caused by a deficiency of N-acetyl-alpha-D-glucosaminidase (NAGLU). METHOD: A mild mentally retarded elderly female patient is described with a slowly progressive dementia who had given birth to a daughter who developed normally. RESULTS: Metabolic screening revealed an enhanced concentration of heparan sulfate in urine. Enzymatic assay demonstrated deficiency of N-acetyl-alpha-D-glucosaminidase. Mutations in the NAGLU gene were found. One mentally retarded and hospitalized elder brother was also found to have MPS IIIB, whereas a second brother, who had died earlier, is suspected to have had the same metabolic disorder. Prior to the development of dementia, both the patient and her brother showed autistic like features, signs of ideomotor apraxia and weakness in verbal comprehension. CONCLUSION: Screening for metabolic disorders, in particular MPSes, should always be considered in patients with a history of mental deficit and dementia or progressive functional decline.
Subject(s)
Alzheimer Disease/diagnosis , Mucopolysaccharidosis III/diagnosis , Acetylglucosaminidase/deficiency , Alzheimer Disease/genetics , Alzheimer Disease/psychology , Atrophy , Brain/pathology , Chromosome Aberrations , Diagnosis, Differential , Female , Genes, Recessive/genetics , Heparitin Sulfate/urine , Humans , Intellectual Disability/diagnosis , Intellectual Disability/genetics , Intellectual Disability/psychology , Magnetic Resonance Imaging , Middle Aged , Mucopolysaccharidosis III/genetics , Mucopolysaccharidosis III/psychologyABSTRACT
AIM: This prospective study describes This retrospective multicenter study was undertaken to calculate mid- and long-term survival rates of the cementless Zweymüller/Alloclassic total hip prosthesis. MATERIAL AND METHODS: The rectangular titanium stem and threaded cup have been in use since 1986. The ball head is made of alumina ceramic, the inlay of UHMW polyethylene. Five hospitals in Austria, France and Germany cooperated in the follow-up of 848 patients operated between October 1986 and September 1990 (mean age 62.2 years, 62% women, 38% men, mean patient weight 73.8 kg, body mass index 26.8). 468 patients were followed clinically, 320 patients interviewed on the phone, 29 sent a letter. No information was available concerning the remaining 31 patients. Probabilities of implant survival were estimated with the Kaplan-Meier method. RESULTS: 98 patients (11.5%) had died at a median follow-up time of 81.1 months. The probability of survival at 81.1 months was 98.6% looking at stem and cup. There was no significant association of survival of the prosthesis and patient weight, gender or body mass index. CONCLUSION: Our results are in accordance with previously published data of smaller series using the Zweymüller/Alloclassic( total hip. The survival rate of this cementless rectangular titanium prosthesis for the reported follow-up time compares favorably with contemporary cemented hip prostheses.
Subject(s)
Aluminum Oxide , Equipment Failure Analysis/statistics & numerical data , Hip Prosthesis , Polyethylenes , Titanium , Adult , Aged , Aged, 80 and over , Female , Follow-Up Studies , Germany , Humans , Male , Middle Aged , Prosthesis Design , Retrospective Studies , Survival AnalysisABSTRACT
Using the cosinor system we examined the chronobiology of urinary beta-2-microglobulin excretion. The following dimensions were studied: urinary volume, creatinine concentration, creatinine excretion, beta-2-microglobulin concentration, beta-2-microglobulin excretion and the beta-2-microglobulin/creatinine ratio. Urinary volume showed an acrophase at 1704 hours (p = less than 0.01), creatinine concentration showed an acrophase at 0512 hrs (p = less than 0.006) and the beta-2-microglobulin/creatinine ratio presented an acrophase at 1736 hrs (p = less than 0.03). Data were related to a tau = 24 hrs. The data clearly reveal that the beta-2-microglobulin/creatinine ratio shows a circadian rhythm in urinary excretion.
