OBJECTIVE: To investigate the longitudinal relationship between body mass index (BMI), a major vascular risk factor, and cerebral atrophy, a marker of neurodegeneration, in a population-based sample of middle-aged women. METHODS: A representative sample of 290 women born in 1908, 1914, 1918, and 1922 was examined in 1968 to 1969, 1974 to 1975, 1980 to 1981, and 1992 to 1993 as part of the Population Study of Women in Göteborg, Sweden. At each examination, women completed a survey on a variety of health and lifestyle factors and underwent anthropometric, clinical, and neuropsychiatric assessments and blood collection. Atrophy of the temporal, frontal, occipital, and parietal lobes was measured on CT in 1992 when participants were age 70 to 84. Univariate and multivariate regression analyses were used to assess the relationship between BMI and brain measures. RESULTS: Women with atrophy of the temporal lobe were, on average, 1.1 to 1.5 kg/m2 higher in BMI at all examinations than women without temporal atrophy (p
Comment In: Neurology. 2005 Jun 14;64(11):1990-1; author reply 1990-115955971
SummaryForPatientsIn: Neurology. 2004 Nov 23;63(10):E19-2015557485
We present a patient with progressive spastic ataxia, with dystonia and anarthria undiagnosed until detailed genetic analysis revealed an MPAN mutation. Highlighting the worldwide MPAN distribution, a 30year history of absent diagnosis and the impact and cost saving of an early but detailed genetic analysis in complex progressive movement disorders, particularly the anarthric NBIA group.
Structural modification of the urothelium was studied in various diseases of the urinary bladder and prostate, including urinary bladder cancer, vibration cystopathy, chronic prostatitis, benign prostate hyperplasia, and chronic cystitis. The general phenomena of changes in urinary bladder epithelium were atrophy, squamous metaplasia, and instability of the urothelium (focal atrophy, dysplasia, hyperplasia, and metaplasia). This phenomenon can be interpreted as a morphological marker for cancer risk.
AIMS: To investigate the morphology of the optic disc and retinal vessels in children with surgically treated hydrocephalus. METHODS: A prospective, population-based study was performed in 69 children (median age 9.6 years) with early surgically treated hydrocephalus. All children were examined by ophthalmoscopy. Additionally, optic disc and retinal vessel morphology was evaluated in 55 children by digital image analysis of ocular fundus photographs. RESULTS: Optic atrophy was found in 10 of 69 children (14%). In comparison with a reference group, the median optic-disc area was significantly smaller (p = 0.013) in the children with hydrocephalus. There was no corresponding difference in cup area, so the rim area was significantly smaller in the hydrocephalic children (p = 0.002). Children with hydrocephalus had an abnormal retinal vascular pattern, with significantly straighter retinal arteries and fewer central vessel branching points compared with controls (p
The aim of this study was to investigate the anatomical features of edentulous jaw dental segments (eJDS) in order to offer the most reliable clinical and radiological classification of such segments in planning for implant treatment. A total of 374 patients, 156 men and 218 women, participated in the investigation. The mean age of the patients was 46 years (SD 12.7), ranging between 17 and 73 years. The eJDS were estimated by means of orthopantomogram, computerized tomography, and intraorally with special ridge-mapping callipers for measurement of alveolar process width. A total of 792 screw-shaped and 1-stage Osteofix Dental Implant System (Oulu, Finland) implants were inserted. Dental segments were divided according to the results of the commonly accepted eJDS assessments into 3 clinical-anatomical types. Type I indicated insignificant or no atrophy of eJDS (232 patients with 476 implant sites; 60.1% of the total number). Type II indicated mild to moderate vertical or horizontal atrophy of eJDS (100 patients with 222 sites; 28% of the total number). Type III indicated significant vertical or horizontal atrophy of eJDS (42 patients with 94 sites; 11.9% of the total number). The accuracy of the clinical and radiological classification was adjudged to have been 95.8%. By the process of establishing clinical and radiological classification of the jawbone segments, more reliability was anticipated regarding the insertion of implants both in maxillae and mandibles.
Acute liver failure (ALF) is a life-threatening condition in the absence of preexisting liver disease in children. The main clinical presentation comprises hepatic dysfunction, elevated liver biochemical values, and coagulopathy. The etiology of ALF remains unclear in most affected children; however, the recent identification of mutations in the neuroblastoma amplified sequence (NBAS) gene in autosomal recessively inherited ALF has shed light on the cause of a subgroup of fever-triggered pediatric ALF episodes. Previously, biallelic mutations in NBAS have been reported to be associated with a syndrome comprising short stature, optic atrophy, and Pelger-Huët anomaly (SOPH) specifically occurring in the Yakut population. No hepatic phenotype has been observed in individuals with this disorder who all carry the homozygous NBAS founder mutation c.5741G>A [p.(Arg1914His)]. We present the case of a 4-year-old girl with the cardinal features of SOPH syndrome: characteristic facial dysmorphism, postnatal growth retardation, delay of bone age, slender long bones, optic atrophy, and Pelger-Huët anomaly. During the first 2 years of her life, a series of infections with episodes of fever were accompanied by elevated liver enzyme levels, but hyperammonemia, hypoglycemia, coagulopathy, or encephalopathy suggestive of acute and severe liver disease were never observed. Whole exome sequencing in the patient revealed compound heterozygosity of the 2 NBAS variants, p.(Arg1914His) and p.(Glu943*). This case highlights the variability of clinical presentation associated with NBAS deficiency. Absence of severe liver problems in this case and SOPH-affected Yakut subjects suggests that individuals carrying the NBAS missense mutation p.(Arg1914His) are less susceptible to developing ALF.
The purposes of this review are to summarize studies of cross-sections of autopsied whole muscles from previously physically healthy males and to focus on the cause of the ageing atrophy. The ageing atrophy begins around 25 years of age and thereafter accelerates. This is caused mainly by a loss of muscle fibres, and to a lesser extent by a reduction in fibre size, mostly of the proportion of the fibre area in the muscle cross-section occupied by type 2 (fast-twitch) fibres. In muscle from old subjects, there is a significant increase in the number of enclosed fibres, indicating an increased incidence of fibre type grouping, a loss of motor neurons in the spinal cord, and a reduction in the number of functioning motor units. These findings strongly suggest a combination of a progressive denervation process and an altered physical activity level as the two major mechanisms underlying the effects of normal ageing on human muscle. These changes have obvious implications for old individuals and their participation in physical activity and in sports, which must be accommodated in rehabilitation regimes or in training programmes.