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2.
Ultrasound Obstet Gynecol ; 48(1): 61-5, 2016 Jul.
Article in English | MEDLINE | ID: mdl-26279411

ABSTRACT

OBJECTIVES: To evaluate the effects of transdermal nitroglycerin (GTN) and sildenafil citrate on Doppler velocity waveforms of the uterine (UtA), umbilical (UA) and fetal middle cerebral (MCA) arteries in pregnancies with intrauterine growth restriction (IUGR). METHODS: This was a prospective study of 35 singleton pregnancies (gestational age, 24-31 weeks) with IUGR and abnormal UtA and UA Doppler waveforms. We compared maternal arterial blood pressure and Z-scores of the pulsatility index (PI) of UtA, UA and fetal MCA before and after application of a transdermal GTN patch (average dose, 0.4 mg/h), oral sildenafil citrate (50 mg) or placebo. Statistical analysis was performed by ANOVA for paired samples. RESULTS: There was a significant decrease in UtA-PI after application of GTN (21.0%) and sildenafil citrate (20.4%). A significant reduction in UA-PI was also observed for both GTN (19.1%) and sildenafil citrate (18.2%). There was no difference in UtA- and UA-PI when the GTN and sildenafil groups were compared. No changes in Doppler velocimetry were observed in the placebo group and no significant change in MCA-PI was observed in any group. Maternal arterial blood pressure decreased with administration of both GTN and sildenafil citrate in those with pre-eclampsia. CONCLUSION: The use of transdermal GTN or sildenafil citrate in pregnancies with IUGR is associated with a significant reduction in both UtA and UA Doppler PI, as well as maternal arterial blood pressure. Neither drug affected the MCA-PI. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd.


Subject(s)
Nitroglycerin/pharmacology , Placental Insufficiency/drug therapy , Sildenafil Citrate/pharmacology , Vasodilator Agents/pharmacology , Administration, Cutaneous , Adult , Blood Flow Velocity/drug effects , Double-Blind Method , Female , Fetal Growth Retardation/diagnostic imaging , Fetal Growth Retardation/drug therapy , Fetal Growth Retardation/physiopathology , Humans , Middle Cerebral Artery/drug effects , Middle Cerebral Artery/embryology , Middle Cerebral Artery/physiology , Nitroglycerin/administration & dosage , Placental Insufficiency/diagnostic imaging , Placental Insufficiency/physiopathology , Pregnancy , Prospective Studies , Pulsatile Flow/drug effects , Sildenafil Citrate/administration & dosage , Treatment Outcome , Ultrasonography, Prenatal , Umbilical Arteries/drug effects , Umbilical Arteries/physiology , Uterine Artery/drug effects , Uterine Artery/physiology , Vasodilator Agents/administration & dosage , Young Adult
3.
Chem Commun (Camb) ; 51(51): 10330-3, 2015 Jun 28.
Article in English | MEDLINE | ID: mdl-26027845

ABSTRACT

Bioorthogonal click ligations are extensively used for the introduction of functional groups in biological systems. Tetrazine ligations are attractive in that they are catalyst-free and display favorable kinetics. We describe the efficient remodeling of bacterial cell surfaces using unnatural d-amino acids derivatized with tetrazine ligation handles. The metabolic incorporation of these unnatural d-amino acids onto bacterial cell surfaces resulted in a site-selective installation of fluorophores.


Subject(s)
Fluorescent Dyes/chemistry , Heterocyclic Compounds, 1-Ring/chemistry , Peptidoglycan/chemistry , Amino Acids/chemistry , Click Chemistry , Diaminopimelic Acid/chemistry , Flow Cytometry , Norbornanes/chemistry , Peptidyl Transferases/metabolism , Staphylococcus aureus/chemistry , Stereoisomerism
4.
J Econ Entomol ; 107(4): 1713-20, 2014 Aug.
Article in English | MEDLINE | ID: mdl-25195467

ABSTRACT

Odonate larvae can be serious pests that attack fish larvae, postlarvae, and fingerlings in fish culture tanks, causing significant loss in the supply and production of juveniles. This study reports a screen of the essential oils (EOs) of Nectandra megapotamica (Sprengel) Mez, Nectandra grandiflora Nees, Hesperozygis ringens (Bentham) Epling, Ocimum gratissimum L., Aloysia gratissima (Gillies & Hooker) Troncoso, and Lippia sidoides Chamisso against Coenagrionidae larvae. In addition, the most effective EO and its 50% lethal concentration (LC50) and chemical analysis are described. The larvae of Acanthagrion Selys, Homeoura Kennedy, Ischnura Charpentier, and Oxyagrion Selys were used to assess the EO effects. EO obtained from H. ringens, O. gratissimum, and L. sidoides showed the highest larvicidal effects at 19 h of treatment. The major constituents of the EO of H. ringens include pulegone and limonene, while eugenol and Z-beta-ocimene predominate in the EO of O. gratissimum, and carvacrol and rho-cymene were the major compounds of the EO of L. sidoides. Leaf EOs from H. ringens, O. gratissimum, and L. sidoides showed activity against Coenagrionidae larvae at similar concentrations with LC50s of 62.92, 75.05, and 51.65 microl liter(-1), respectively, and these were considered the most promising treatments.


Subject(s)
Insecticides/analysis , Lamiaceae/chemistry , Lauraceae/chemistry , Odonata , Oils, Volatile/chemistry , Verbenaceae/chemistry , Animals , Larva
5.
Eur J Clin Nutr ; 67(11): 1200-4, 2013 Nov.
Article in English | MEDLINE | ID: mdl-24065061

ABSTRACT

BACKGROUND/OBJECTIVES: The objectives of this study were to evaluate nutritional status, aptitude and physical activity at the beginning and end of the nutrition education and physical activity intervention program as compared with a control group. METHODS: We conducted a 28-week quasi-experimental study involving 238 students (108 in the intervention group (IG) and 130 in the control group (CG)). The IG participated in curricular and extracurricular activities for nutrition education (50 min once a week) and physical activity (50 min twice a week), and the CG participated only in curricular activities. Nutritional status was determined using body mass index, according to the WHO 2007 curve. The effect of the intervention program was evaluated using a model of generalized estimating equations. RESULTS: Among overweight students, a greater reduction in percentile of BMI was observed in the IG (64.6%) compared with CG (36.4%), P=0.001. Improvement in nutritional status occurred in 26.2% of IG versus 10.4% of CG (P=0.014). The IG showed a significant increase in the amount of moderate or vigorous physical activity (P=0.012), whereas in the control group the increase was not significant (P=0.810). In three physical fitness tests, the IG showed significant improvements in performance (P<0.001), whereas the control group's performance was worse in the final evaluation. CONCLUSIONS: The intervention program had a positive effect on overweight, with significant improvements in nutritional status and physical fitness.


Subject(s)
Body Mass Index , Diet , Exercise , Health Education , Health Promotion , Nutritional Status , Obesity/prevention & control , Physical Fitness , Brazil , Child , Humans , Overweight , Program Evaluation , Treatment Outcome
6.
J Anim Ecol ; 80(4): 896-903, 2011 Jul.
Article in English | MEDLINE | ID: mdl-21644976

ABSTRACT

1. Much of the current understanding of ecological systems is based on theory that does not explicitly take into account individual variation within natural populations. However, individuals may show substantial variation in resource use. This variation in turn may be translated into topological properties of networks that depict interactions among individuals and the food resources they consume (individual-resource networks). 2. Different models derived from optimal diet theory (ODT) predict highly distinct patterns of trophic interactions at the individual level that should translate into distinct network topologies. As a consequence, individual-resource networks can be useful tools in revealing the incidence of different patterns of resource use by individuals and suggesting their mechanistic basis. 3. In the present study, using data from several dietary studies, we assembled individual-resource networks of 10 vertebrate species, previously reported to show interindividual diet variation, and used a network-based approach to investigate their structure. 4. We found significant nestedness, but no modularity, in all empirical networks, indicating that (i) these populations are composed of both opportunistic and selective individuals and (ii) the diets of the latter are ordered as predictable subsets of the diets of the more opportunistic individuals. 5. Nested patterns are a common feature of species networks, and our results extend its generality to trophic interactions at the individual level. This pattern is consistent with a recently proposed ODT model, in which individuals show similar rank preferences but differ in their acceptance rate for alternative resources. Our findings therefore suggest a common mechanism underlying interindividual variation in resource use in disparate taxa.


Subject(s)
Anura/physiology , Diet , Food Chain , Lizards/physiology , Opossums/physiology , Animals , Brazil , Ecosystem , Models, Biological
7.
Ultrasound Obstet Gynecol ; 38(4): 389-94, 2011 Oct.
Article in English | MEDLINE | ID: mdl-21374750

ABSTRACT

OBJECTIVES: To evaluate the effect of transdermal nitroglycerin on Doppler velocity waveforms of the uterine, umbilical and fetal middle cerebral arteries in patients with severe pre-eclampsia. METHODS: This was a prospective study of 30 singleton pregnancies (gestational age range: 24-31 weeks) with severe pre-eclampsia and abnormal uterine and umbilical artery Doppler waveforms. We compared maternal blood pressure as well as the resistance index (RI) and the pulsatility index (PI) of the uterine, umbilical and fetal middle cerebral arteries before and after application of a transdermal nitroglycerin patch (average dose 0.4 mg/h) for a period of 3 days. Intra-day comparisons before and after administration of nitroglycerin and a comparison between days 0 (no patch) and 3 after administration of the first dose of nitroglycerin were performed using ANOVA for paired samples. RESULTS: A significant decrease in the PI and RI of the uterine (25.3 ± 4.9% and 21.2 ± 6.2%, respectively, P < 0.001) and umbilical (23.1 ± 6.9% and 19.7 ± 6.1%, respectively, P < 0.001) arteries was noted when comparing the first day without medication against the third day with the patch. No significant change in the PI and RI of the middle cerebral artery was observed. The mean arterial blood pressure decreased from 119.5 ± 4.5 mmHg to 114.8 ± 4.4 mmHg (P < 0.05). CONCLUSION: The use of transdermal nitroglycerin in patients with severe pre-eclampsia is associated with a significant reduction in the RI and PI of the uterine and umbilical arteries, as well as of maternal blood pressure. Transdermal nitroglycerin does not affect the RI and PI of the fetal middle cerebral artery.


Subject(s)
Blood Flow Velocity/drug effects , Middle Cerebral Artery/drug effects , Nitroglycerin/pharmacology , Placental Insufficiency/drug therapy , Pre-Eclampsia/drug therapy , Umbilical Arteries/drug effects , Vascular Resistance/drug effects , Adult , Female , Gestational Age , Humans , Middle Cerebral Artery/diagnostic imaging , Middle Cerebral Artery/embryology , Middle Cerebral Artery/physiopathology , Nitroglycerin/administration & dosage , Placental Insufficiency/diagnostic imaging , Placental Insufficiency/physiopathology , Pre-Eclampsia/diagnostic imaging , Pre-Eclampsia/physiopathology , Pregnancy , Prospective Studies , Ultrasonography, Doppler , Ultrasonography, Prenatal , Umbilical Arteries/diagnostic imaging , Umbilical Arteries/physiopathology , Uterus/blood supply , Uterus/diagnostic imaging , Uterus/drug effects
8.
Eur J Clin Nutr ; 59(9): 1015-21, 2005 Sep.
Article in English | MEDLINE | ID: mdl-15970941

ABSTRACT

OBJECTIVE: To assess the prevalence of obesity, overweight (including obesity) and thinness in children of the city of Florianopolis (southern Brazil). DESIGN: Cross-sectional study. SUBJECTS: Representative sample of 7-10-y-old schoolchildren of the first four grades of elementary schools (1432 girls, 1504 boys). METHODS: Measurements of weight, height and triceps skinfold thickness (TSF) were taken following standard techniques. The body mass index (BMI) was computed as weight/height2. Nutritional status was defined using two references: (1) the Must et al reference for BMI and TSF to define thinness, overweight and obesity (5th, 85th and 95th percentiles, respectively); (2) the International Obesity Task Force (IOTF) BMI cutoffs to define overweight and obesity. RESULTS: Using BMI, according to the Must et al, and IOTF references, the prevalence of obesity was 10.6 and 5.5%, respectively; overweight (including obesity) affected 26.2 and 22.1% of children, respectively. According to the Must et al reference, the prevalence of thinness was 3.2%. Using TSF rather than BMI, according to the Must et al references, fewer children were classified as obese (8.0%) or overweight (20.2%) and more children were classified as thin (4.9%). CONCLUSION: This study supports the previously reported high frequencies of childhood overweight and obesity in developing countries. The data allow comparisons with other studies carried out in Brazil and other parts of the world.


Subject(s)
Body Height/physiology , Body Weight/physiology , Child Nutritional Physiological Phenomena , Obesity/epidemiology , Thinness/epidemiology , Anthropometry , Body Mass Index , Brazil/epidemiology , Child , Cluster Analysis , Cross-Sectional Studies , Developing Countries , Female , Humans , Male , Nutrition Surveys , Nutritional Status , Prevalence
9.
Otol Neurotol ; 22(1): 76-8, 2001 Jan.
Article in English | MEDLINE | ID: mdl-11314721

ABSTRACT

OBJECTIVE: The authors report a case of mature teratoma of the middle ear in a 3-year-old girl with a 1-year history of otitis media. METHODS AND RESULTS: Radiologic investigation revealed a partially cystic lesion of the petrous portion of the right temporal bone. It produced opacification of the middle ear as well as destruction of septal air cells. The patient underwent a subtotal petrosectomy. Histologically, the tumor was composed of an intimate admixture of mature tissues representing all three germ layers, including brain, myelinated nerve trunks, skeletal muscle, bone, immature cartilage, seromucinous glands, and respiratory epithelium. Of note within the brain tissue was choroid plexus within an ependyma-lined rudimentary ventricle. Immunohistochemical studies were also performed. Twenty months after surgery, the patient was well, with complete recovery from symptoms. CONCLUSION: Teratomas of the middle ear are rare neoplasms. Only a few examples have been reported. As a rule, they are cured by resection and do not require adjuvant therapy.


Subject(s)
Ear Neoplasms/pathology , Ear, Middle/pathology , Teratoma/pathology , Adipose Tissue/pathology , Bone Cysts/complications , Bone Cysts/pathology , Cerebrospinal Fluid Otorrhea/diagnosis , Cerebrospinal Fluid Otorrhea/etiology , Child, Preschool , Cholesteatoma, Middle Ear/etiology , Ear Neoplasms/complications , Ear Neoplasms/surgery , Ear, Middle/surgery , Female , Hearing Loss, Conductive/diagnosis , Hearing Loss, Conductive/etiology , Humans , Magnetic Resonance Imaging , Muscle, Skeletal/pathology , Otitis Media/complications , Otitis Media/diagnosis , Petrous Bone/pathology , Severity of Illness Index , Teratoma/complications , Teratoma/surgery
10.
Arq Gastroenterol ; 38(4): 261-8, 2001.
Article in Portuguese | MEDLINE | ID: mdl-12068537

ABSTRACT

AIM: To evaluate the intestinal absorption in HIV-infected children children 14 months to 14 years and to investigate its relationship to diarrhea, nutritional status, immune dysfunction, classical enteric parasites and Cryptosporidium. METHODS: Intestinal absorption was investigated by measuring serum D-xylose. Fecal samples were investigated for classical pathogens and Cryptosporidium. The sample size was calculated considering a 30% prevalence of altered D-xylose absorption in HIV-infected children with a 5% accuracy. Statistical procedures used were: descriptive measurements, multiple correspondence analysis and logistic regression. RESULTS: D-xylose absorption was altered in only 8 out of 104 (7.7%) and Cryptosporidium was positive in 33 out of 104 (31.73%) HIV-infected children. The multiple correspondence analysis suggested an association between an altered D-xylose test and Cryptosporidium. D-xylose malabsorption was not associated with diarrhea, nutritional status, immune disfunction and classic enteric parasites. CONCLUSIONS: Intestinal malabsorption evaluated through the D-xylose test was an uncommon finding in HIV-infected children. Intestinal dysfunction when present seems to be related to Cryptosporidium, but not to diarrhea, nutritional status, immune disfunction and classic enteric parasites.


Subject(s)
HIV Infections/complications , Malabsorption Syndromes/diagnosis , Xylose , Adolescent , Animals , Child , Child, Preschool , Cross-Sectional Studies , Cryptosporidium/isolation & purification , Diarrhea/etiology , Female , HIV Infections/parasitology , HIV Infections/physiopathology , Humans , Infant , Intestinal Absorption/physiology , Malabsorption Syndromes/etiology , Male
11.
Hum Mutat ; 12(3): 214-5, 1998.
Article in English | MEDLINE | ID: mdl-10660328

ABSTRACT

We report a novel beta-sarcoglycan gene mutation identified in a 21-year-old Portuguese male with a progressive myopathy of intermediate severity, who had been misdiagnosed as Becker Muscular Dystrophy (BMD) based on clinical observations and muscle immunocytochemical anaylsis with dystrophin antibodies only. Since no detectable deletions or duplications were found in the dystrophin gene, we screened for mutations in the sarcoglycan genes by PCR-SSCP. The patient's sample showed a band of increased mobility in exon 4 of the beta-sarcoglycan gene which, upon sequencing, was found to represent a homozygous A-->G transversion at nucleotide 551, resulting in a tyrosine to cysteine substitution at position 184 (Y184C). Carrier status was ascertained in both parents and a sister. These aberrant conformers were not detected in 85 unrelated control individuals screened by PCR-SSCP analysis. All seven beta-sarcoglycan mutations reported to date are associated with a severe phenotype and occur in exons 3 and 4, which correspond to the immediate extracellular domain of the protein. This region contains five conserved cysteine residues. In our patient, the presence of an extra cysteine residue could interefere with intra- and/or inter-molecular disulphide bond formation. The intermediate phenotype could perhaps result from the assembly of both normal and abnormal complexes, depending on the formation of the disulphide bonds.


Subject(s)
Cytoskeletal Proteins/genetics , Exons/genetics , Membrane Glycoproteins/genetics , Muscular Dystrophy, Duchenne/genetics , Mutation/genetics , Adult , Diagnosis, Differential , Dystroglycans , Humans , Male , Muscular Dystrophy, Duchenne/diagnosis
12.
Brain Dev ; 19(4): 268-73, 1997 Jun.
Article in English | MEDLINE | ID: mdl-9187477

ABSTRACT

We present clinical, biochemical and cranial magnetic resonance imaging data of six pediatric patients with L-2-hydroxyglutaric aciduria. All the children have the same ethic origin and lived in the northern area of Portugal. Our findings reinforce the described phenotype of this rare metabolic disease with mental deficiency, severe cerebellar dysfunction, mild extrapyramidal and pyramidal symptoms, progressive macrocephaly and seizures. Magnetic resonance imaging revealed subcortical leukoencephalopathy, cerebellar atrophy and signal changes in the putamina and dentate nuclei. These were similar to those of the previous reports in all patients. The urinary excretion of L-2-hydroxyglutaric acid was variably increased in all patients. The other persistent biochemical abnormality was hyperlysinemia. We have found a strong correlation between the severity of the clinical manifestations and the extension of the lesions in the neuroimaging studies. There was no correlation between the clinical findings and the amount of urinary excretion of L-2-hydroxyglutaric acid. We report the second case in the literature of a cerebral thalamic tumor in L-2-hydroxyglutaric aciduria; neuropathological examination of the surgical biopsy demonstrated a diffuse fibrillary astrocytoma.


Subject(s)
Glutarates/urine , Intellectual Disability/complications , Metabolism, Inborn Errors/complications , Renal Aminoacidurias/complications , Adolescent , Ataxia/complications , Ataxia/diagnostic imaging , Ataxia/pathology , Biopsy , Brain/diagnostic imaging , Brain/pathology , Child , Child, Preschool , Female , Humans , Intellectual Disability/diagnostic imaging , Intellectual Disability/pathology , Magnetic Resonance Imaging , Male , Metabolism, Inborn Errors/pathology , Metabolism, Inborn Errors/urine , Portugal , Renal Aminoacidurias/pathology , Renal Aminoacidurias/urine , Tomography, X-Ray Computed
13.
Acta Med Port ; 8(11): 629-34, 1995 Nov.
Article in Portuguese | MEDLINE | ID: mdl-8713508

ABSTRACT

A case of presenile dementia with dominant frontal disfunction, progressive aphasia and Motor Neuron Disease with prominent bulbar signs is reported. Considering the clinical examination, the measurements of the regional cerebral flow (SPECT) and the histological appearances, we suggest the diagnosis of Dementia of Frontal Lobe Type and Motor Neuron Disease. We reviewed other disorders labelled Primary Frontal or Fronto-temporal Dementias and we discuss this new dementia and the difficulty in its classification.


Subject(s)
Dementia/diagnosis , Frontal Lobe , Motor Neuron Disease/diagnosis , Biopsy , Brain/diagnostic imaging , Brain/pathology , Dementia/pathology , Diagnosis, Differential , Female , Frontal Lobe/pathology , Humans , Magnetic Resonance Imaging , Middle Aged , Motor Neuron Disease/pathology , Neuropsychological Tests , Tomography, Emission-Computed, Single-Photon , Tomography, X-Ray Computed
14.
Clin Dysmorphol ; 4(2): 156-60, 1995 Apr.
Article in English | MEDLINE | ID: mdl-7606323

ABSTRACT

We report the seventh case of the 3C syndrome or Cranio-Cerebello-Cardiac dysplasia. The presence of congenital glaucoma in our patient suggests that this is a previously undescribed feature of this syndrome, which is presumed to be autosomal recessive.


Subject(s)
Abnormalities, Multiple/physiopathology , Glaucoma/congenital , Brain/abnormalities , Female , Heart Defects, Congenital/physiopathology , Humans , Infant, Newborn , Skull/abnormalities , Syndrome
16.
Neuropediatrics ; 19(1): 10-5, 1988 Feb.
Article in English | MEDLINE | ID: mdl-3283594

ABSTRACT

We describe three cases of Giant Axonal Neuropathy (GAN) with clinical signs of central nervous system involvement and an abnormal CT in one case. Two of these cases are sibs, pointing to an autosomal recessive inheritance as two other families previously reported. The review of the literature shows that most cases have central nervous system and cranial nerves involvement suggesting a generalized disorder in keeping an inborn error of organization of intermediate filaments. According to this, we think that Giant Axonal Disease (GAD) is a better designation to this condition.


Subject(s)
Axons/ultrastructure , Nervous System Diseases/pathology , Adolescent , Biopsy , Child , Humans , Male , Microscopy, Electron , Nerve Fibers, Myelinated/pathology , Nerve Fibers, Myelinated/ultrastructure , Nervous System Diseases/diagnostic imaging , Nervous System Diseases/physiopathology , Peripheral Nerves/pathology , Skin/innervation , Tomography, X-Ray Computed
18.
Neuropathol Appl Neurobiol ; 13(4): 251-62, 1987.
Article in English | MEDLINE | ID: mdl-2443863

ABSTRACT

Invasive astrocytomas were produced in mice by intracerebral injection of a cell line obtained from a spontaneous murine astrocytoma. These tumours grew in the cerebral hemispheres and, in many cases, extended through the needle hole in the skull to give rise to large extracranial tumours. On injection of the tracers, Evans' blue or horseradish peroxidase (HRP), into the femoral vein, differences were noted in the vascular permeability of the intracerebral and extracranial tumours; the latter alone being stained. Ultrastructurally, small amounts of HRP were localized on the luminal membranes of the vascular endothelium in intracerebral tumours, while in extracranial neoplasms, the tracer was present in the widened extracellular space and in the cytoplasm of macrophages and neoplastic cells. Accordingly, endothelial fenestrations, open junctions and irregular vessels with hypertrophic endothelia were seen exclusively in extracranial neoplasms. These anomalies in the vasculature of intracerebral and extracranial components of VMDk P 497 tumours may have important implications in chemotherapeutic studies using this glioma model.


Subject(s)
Capillary Permeability , Glioma/blood supply , Animals , Brain Neoplasms/blood supply , Evans Blue , Female , Horseradish Peroxidase , Male , Mice , Mice, Inbred Strains , Neoplasm Transplantation , Staining and Labeling
19.
J Neurol Neurosurg Psychiatry ; 49(12): 1417-22, 1986 Dec.
Article in English | MEDLINE | ID: mdl-3806119

ABSTRACT

Four cases of familial metachromatic leucodystrophy are described: the age of onset ranged from 15 to 21 years. Mental deterioration was the earliest clinical sign to be noted and all progressed to severe dementia. The arylsulphatase activity in peripheral leucocytes of the patients was very low, 5 to 15 nmol/h/mg protein, moderately reduced in the heterozygote, 40 nmol/h/mg protein, compared with control values of 60-160 nmol/h/mg protein. Sural nerve biopsies in two cases showed perivascular macrophages filled with metachromatic material and electron microscopy showed typical inclusions in Schwann cell cytoplasm. Necropsy in one of the cases revealed severe demyelination mainly in the cerebral hemispheres with metachromatic material in macrophages and neurons.


Subject(s)
Leukodystrophy, Metachromatic/genetics , Adolescent , Adult , Arylsulfatases/blood , Brain/pathology , Cell Count , Female , Humans , Leukocytes/enzymology , Leukodystrophy, Metachromatic/diagnosis , Leukodystrophy, Metachromatic/pathology , Male , Microscopy, Electron , Nerve Fibers, Myelinated , Peripheral Nerves/pathology
20.
Acta Neuropathol ; 71(1-2): 119-24, 1986.
Article in English | MEDLINE | ID: mdl-3465189

ABSTRACT

Peripheral nerve biopsies were taken from 11 patients with Machado-Joseph disease (MJD), a heredo-degenerative disease within the group of autosomal dominant ataxias. On the basis of the clinical symptoms, 2 patients were found to suffer from type I, 4 from type II and 5 from type III. All cases shared the same pathological features, which consisted of a reduction in density of myelinated and unmyelinated fibres and an increase in endoneurial collagen. It was also observed that some Schwann cells were not related to axons, whilst others showed numerous budding processes. The intensity of the changes varied considerably: it was mild in type I and II and severe in type III. Peripheral nerve changes in MJD are compared with those previously described in other forms of heredo-ataxias. It is concluded that involvement of peripheral nerves is a significant feature in this group of diseases and that peripheral nerve biopsy could be useful in the identification of the subtypes of MJD.


Subject(s)
Peripheral Nerves/pathology , Spinocerebellar Degenerations/pathology , Adult , Aged , Female , Humans , Male , Microscopy, Electron , Middle Aged , Nerve Fibers/pathology , Nerve Fibers, Myelinated/pathology , Olivopontocerebellar Atrophies/pathology
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