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1.
Rev Neurol (Paris) ; 179(8): 910-913, 2023 Oct.
Article in English | MEDLINE | ID: mdl-37301658

ABSTRACT

Sensory neuronopathies name the degeneration of peripheral sensory neurons in dorsal root ganglia. Among the genetic causes, CANVAS could be the most frequent. CANVAS is a clinical entity associating cerebellar ataxia, sensory neuronopathy and vestibular areflexia due to biallelic expansions in RFC1. This study reports the 18 individuals with sensory neuronopathy tested for RFC1 expansion in our center. The clinical picture showed that chronic cough was a frequent sign beginning before the onset of other symptoms. CANVAS is an underestimated cause of late-onset sensory and cerebellar ataxia that needs to be tested for widely now that the molecular cause is known.


Subject(s)
Cerebellar Ataxia , Peripheral Nervous System Diseases , Humans , Cerebellar Ataxia/diagnosis , Cerebellar Ataxia/genetics , Ataxia/etiology , Ataxia/genetics , Syndrome , Neurologic Examination
2.
Eur J Neurol ; 27(1): 181-187, 2020 01.
Article in English | MEDLINE | ID: mdl-31348848

ABSTRACT

BACKGROUND AND PURPOSE: Hypertrophy/signal hyperintensity and/or gadolinium enhancement of plexus structures on magnetic resonance imaging (MRI) are observed in two-thirds of cases of typical chronic inflammatory demyelinating polyneuropathy (CIDP). The objective of our study was to determine the additional benefit of plexus MRI in patients referred to tertiary centers with baseline clinical and electrophysiological characteristics suggestive of typical or atypical CIDP. METHODS: A total of 28 consecutive patients with initial suspicion of CIDP were recruited in nine centers and followed for 2 years. Plexus MRI data from the initial assessment were reviewed centrally. Physicians blinded to the plexus MRI findings established the final diagnosis (CIDP or neuropathy of another cause). The proportion of patients with abnormal MRI was analyzed in each group. RESULTS: Chronic inflammatory demyelinating polyneuropathy was confirmed in 14 patients (50%), as were sensorimotor CIDP (n = 6), chronic immune sensory polyradiculoneuropathy (n = 2), motor CIDP (n = 1) and multifocal acquired demyelinating sensory and motor neuropathy (n = 5). A total of 37 plexus MRIs were performed (17 brachial, 19 lumbosacral and 8 in both localizations). MRI was abnormal in 5/37 patients (14%), all of whom were subsequently diagnosed with CIDP [5/14(36%)], after an atypical baseline presentation. With plexus MRI results masked, non-invasive procedures confirmed the diagnosis of CIDP in all but one patient [1/14 (7%)]. Knowledge of the abnormal MRI findings in the latter could have prevented nerve biopsy being performed. CONCLUSION: Systematic plexus MRI in patients with initially suspected CIDP provides little additional benefit in confirming the diagnosis of CIDP.


Subject(s)
Brachial Plexus/diagnostic imaging , Magnetic Resonance Imaging/methods , Polyradiculoneuropathy, Chronic Inflammatory Demyelinating/diagnostic imaging , Adult , Aged , Aged, 80 and over , Contrast Media , Electrodiagnosis , Female , Gadolinium , Humans , Male , Middle Aged , Polyradiculoneuropathy, Chronic Inflammatory Demyelinating/diagnosis , Prospective Studies , Young Adult
4.
Br J Anaesth ; 120(6): 1295-1303, 2018 Jun.
Article in English | MEDLINE | ID: mdl-29793596

ABSTRACT

BACKGROUND: The mechanisms by which hypertonic sodium lactate (HSL) solution act in injured brain are unclear. We investigated the effects of HSL on brain metabolism, oxygenation, and perfusion in a rodent model of diffuse traumatic brain injury (TBI). METHODS: Thirty minutes after trauma, anaesthetised adult rats were randomly assigned to receive a 3 h infusion of either a saline solution (TBI-saline group) or HSL (TBI-HSL group). The sham-saline and sham-HSL groups received no insult. Three series of experiments were conducted up to 4 h after TBI (or equivalent) to investigate: 1) brain oedema using diffusion-weighted magnetic resonance imaging and brain metabolism using localized 1H-magnetic resonance spectroscopy (n = 10 rats per group). The respiratory control ratio was then determined using oxygraphic analysis of extracted mitochondria, 2) brain oxygenation and perfusion using quantitative blood-oxygenation-level-dependent magnetic resonance approach (n = 10 rats per group), and 3) mitochondrial ultrastructural changes (n = 1 rat per group). RESULTS: Compared with the TBI-saline group, the TBI-HSL and the sham-operated groups had reduced brain oedema. Concomitantly, the TBI-HSL group had lower intracellular lactate/creatine ratio [0.049 (0.047-0.098) vs 0.097 (0.079-0.157); P < 0.05], higher mitochondrial respiratory control ratio, higher tissue oxygen saturation [77% (71-79) vs 66% (55-73); P < 0.05], and reduced mitochondrial cristae thickness in astrocytes [27.5 (22.5-38.4) nm vs 38.4 (31.0-47.5) nm; P < 0.01] compared with the TBI-saline group. Serum sodium and lactate concentrations and serum osmolality were higher in the TBI-HSL than in the TBI-saline group. CONCLUSIONS: These findings indicate that the hypertonic sodium lactate solution can reverse brain oxygenation and metabolism dysfunction after traumatic brain injury through vasodilatory, mitochondrial, and anti-oedema effects.


Subject(s)
Brain Injuries, Traumatic/therapy , Brain/metabolism , Sodium Lactate/therapeutic use , Animals , Brain Edema/etiology , Brain Edema/metabolism , Brain Edema/pathology , Brain Edema/prevention & control , Brain Injuries, Traumatic/complications , Brain Injuries, Traumatic/metabolism , Brain Injuries, Traumatic/physiopathology , Cerebral Cortex/ultrastructure , Disease Models, Animal , Fluid Therapy/methods , Male , Microscopy, Electron , Mitochondria/drug effects , Mitochondria/ultrastructure , Oxygen Consumption/drug effects , Rats, Wistar , Saline Solution, Hypertonic/therapeutic use , Sodium Lactate/pharmacology
5.
Neurobiol Dis ; 90: 3-19, 2016 Jun.
Article in English | MEDLINE | ID: mdl-26494254

ABSTRACT

Mitochondria are dynamic organelles that continually move, fuse and divide. The dynamic balance of fusion and fission of mitochondria determines their morphology and allows their immediate adaptation to energetic needs, keeps mitochondria in good health by restoring or removing damaged organelles or precipitates cells in apoptosis in cases of severe defects. Mitochondrial fusion and fission are essential in mammals and their disturbances are associated with several diseases. However, while mitochondrial fusion/fission dynamics, and the proteins that control these processes, are ubiquitous, associated diseases are primarily neurological disorders. Accordingly, inactivation of the main actors of mitochondrial fusion/fission dynamics is associated with defects in neuronal development, plasticity and functioning, both ex vivo and in vivo. Here, we present the central actors of mitochondrial fusion and fission and review the role of mitochondrial dynamics in neuronal physiology and pathophysiology. Particular emphasis is placed on the three main actors of these processes i.e. DRP1,MFN1-2, and OPA1 as well as on GDAP1, a protein of the mitochondrial outer membrane preferentially expressed in neurons. This article is part of a Special Issue entitled: Mitochondria & Brain.


Subject(s)
Mitochondria/metabolism , Mitochondrial Dynamics/physiology , Neurodegenerative Diseases/metabolism , Neuronal Plasticity/physiology , Animals , Brain/metabolism , Humans , Neurons/metabolism
6.
J Dairy Sci ; 97(12): 7575-85, 2014 Dec.
Article in English | MEDLINE | ID: mdl-25306272

ABSTRACT

Excess dietary nitrogen (EDN) is commonly expected in dairy herds, but no data are available regarding its consequences on cattle immunity. In this study neutrophil functions were assessed during EDN in steers. In experiment 1, 4 one-month periods, 4 diets [16% crude protein (CP; DM basis), 20% CP based on soybean meal, 20% CP based on urea, and 24% CP based on urea and soybean meal], and 4 steers were included in a crossover design to determine the effects of a chronic excess. In experiment 2, the repercussions of an acute excess were assessed with 2 periods of 10 d, the same 4 steers, and 2 diets containing 14 and 20% CP. Sampling was done during the fourth week of each period in experiment 1, and on d 0, 1, 2, 3, 7, and 9 of each period in experiment 2. Individual blood biochemistry parameters were measured and neutrophil factors, such as counts, recovery after isolation, surface expression of CD11b and CD62L, phagocytosis, diapedesis, reactive oxygen species (ROS) production, and bacteria killing, were determined. Data were analyzed by general linear models of R, with period, diet or biochemical component, and animal as explanatory variables. The outcome variables were biochemical or immune variables. The variables diet, period, and animal were forced as fixed effects. Data collected over the entire period of experiment 2 were pooled. Several multiples linear regressions or ANOVA were performed and a Bonferroni correction was applied. In experiment 2 (acute EDN), neutrophil counts were negatively associated with nitrogen intake, conversely to CD62L expression. The observed relative neutropenia may be due to neutrophil margination because CD62L-expressing neutrophils are more likely to stick to endothelium. Interestingly, ROS production was changed by EDN: chronic EDN (experiment 1) was negatively associated with opsonized zymozan (OZ)-induced ROS production and acute EDN (experiment 2) with spontaneous ROS production. For chronic EDN, ROS production upon phorbol 12-myristate 13-acetate was not modified, in contrast to OZ stimulation. Decreased ROS production during chronic EDN probably involves the early events leading to ROS production, as OZ acts through membrane receptors and phorbol 12-myristate 13-acetate directly activates protein kinase C. This is the first study to provide evidence that the modifications of neutrophil functions produced by excess nitrogen depend on the intensity and duration of the excess. Further studies, including epidemiological studies during risk periods, are needed to resolve the issues linked to EDN.


Subject(s)
Cattle/immunology , Dietary Proteins/administration & dosage , Neutrophils/drug effects , Nitrogen/pharmacology , Ammonia/blood , Animals , Cattle/blood , Cattle/physiology , Cross-Over Studies , Diet/veterinary , Dietary Proteins/immunology , Dietary Proteins/metabolism , Hematocrit/veterinary , Male , Neutrophils/immunology , Nitrogen/administration & dosage , Nitrogen/immunology , Glycine max/chemistry , Urea/blood
7.
Arch Pediatr ; 28(2): 141-146, 2021 Feb.
Article in English | MEDLINE | ID: mdl-33334653

ABSTRACT

BACKGROUND: This study aimed to assess how the emergence of high-flow nasal cannula (HFNC) has modified the demographic and clinical characteristics as well as outcomes of infants with bronchiolitis admitted to a pediatric intensive care unit (PICU). METHODS: This was a single-center retrospective study including infants aged 1 day to 6 months with bronchiolitis requiring HFNC, noninvasive ventilation (NIV), or invasive ventilation on admission. RESULTS: A total of 252 infants (mean age 53±36 days) were included in the study. The use of HFNC increased from 18 (21.4%) during 2013-2014 to 53 infants (55.2%) during 2015-2016. The length of stay in the PICU decreased over time from 4.7±2.9 to 3.5±2.7 days (P<0.01) but the hospital length of stay remained similar (P=0.17). On admission, patients supported by HFNC as the first-line therapy were older. The PICU length of stay was similar according to the type of respiratory support (P=0.16), but the hospital length of stay was longer for patients supported by HFNC (P=0.01). CONCLUSION: The distribution of respiratory support has significantly changed over time for patients with bronchiolitis and HFNC is increasingly used. The demographic and clinical characteristics of the have not changed over time. However, the PICU length of stay decreased significantly.


Subject(s)
Bronchiolitis/therapy , Critical Care/methods , Intensive Care Units, Pediatric , Oxygen Inhalation Therapy/methods , Practice Patterns, Physicians'/trends , Bronchiolitis/diagnosis , Cannula , Critical Care/trends , Female , Humans , Infant , Infant, Newborn , Length of Stay/trends , Male , Oxygen Inhalation Therapy/instrumentation , Oxygen Inhalation Therapy/trends , Respiration, Artificial/methods , Respiration, Artificial/trends , Retrospective Studies , Treatment Outcome
8.
Physiol Genomics ; 37(2): 140-6, 2009 Apr 10.
Article in English | MEDLINE | ID: mdl-19141541

ABSTRACT

The tet-inducible system has been widely used to achieve conditional gene expression in genetically modified mice. To alleviate the frequent difficulties associated with recovery of relevant transgenic founders, we tested whether a controlled strategy of transgenesis would support reliable cell-specific, doxycycline (Dox)-controlled transgene expression in vivo. Taking advantage of the potent hypoxanthine-aminopterin-thymidine selection strategy and an embryonic stem (ES) cell line supporting efficient germ-line transmission, we used hypoxanthine phosphoribosyltransferase (HPRT) targeting to insert a single copy tet-inducible construct designed to allow both glucocorticoid receptor (GR) and beta-galactosidase (beta-Gal) expression. Conditional, Dox-dependent GR and beta-Gal expression was evidenced in targeted ES cells. Breeding ES-derived single copy transgenic mice with mice bearing appropriate tet transactivators resulted in beta-Gal expression both qualitatively and quantitatively similar to that observed in mice with random integration of the same construct. Interestingly, GR expression in mice was dependent on transgene orientation in the HPRT locus while embryonic stem cell expression was not. Thus, a conditional construct inserted in single copy and in predetermined orientation at the HPRT locus demonstrated a Dox-dependent gene expression phenotype in adult mice suggesting that controlled insertion of tet-inducible constructs at the HPRT locus can provide an efficient alternative strategy to reproducibly generate animal models with tetracycline-induced transgene expression.


Subject(s)
Embryonic Stem Cells/metabolism , Hypoxanthine Phosphoribosyltransferase/genetics , Receptors, Glucocorticoid/metabolism , Tetracycline/pharmacology , Animals , Bacterial Proteins/genetics , Blotting, Western , Carrier Proteins/genetics , Cell Line , Doxycycline/pharmacology , Embryonic Stem Cells/cytology , Embryonic Stem Cells/drug effects , Female , Gene Expression Regulation/drug effects , Gene Knock-In Techniques , Genetic Vectors/genetics , Humans , Lac Operon/genetics , Liver/metabolism , Male , Mice , Mice, Inbred C57BL , Mice, Inbred Strains , Mice, Transgenic , Myocardium/metabolism , Receptors, Glucocorticoid/genetics , Staining and Labeling , Transfection , beta-Galactosidase/genetics , beta-Galactosidase/metabolism
9.
Skin Pharmacol Physiol ; 21(4): 218-26, 2008.
Article in English | MEDLINE | ID: mdl-18509256

ABSTRACT

AIM: The aim of this work was to characterize rabbit ear skin in view of its use in transdermal permeation experiments. METHOD: The characterization included histological analysis of the tissue, qualitative and quantitative analysis of stratum corneum (SC) lipids, differential scanning calorimetry and permeation experiments (caffeine, nicotinamide, progesterone). As a reference, pig ear skin was used. RESULTS: The results obtained show that rabbit ear skin has a similar SC thickness compared to pig skin although the viable epidermis has a different structure. The lipid composition of rabbit SC was similar to pig SC but was characterized by a lower content of ceramides and a higher content of cholesterol esters and triglycerides. In terms of permeability, rabbit ear skin was 4-7 times less permeable to hydrophilic compounds, probably because of the higher lipophilicity of its SC. The permeability to progesterone was comparable between isolated pig epidermis and rabbit ear skin. CONCLUSION: Overall, the results obtained in this work support the usefulness of rabbit ear skin as barrier for skin penetration studies, for both lipophilic and hydrophilic permeants.


Subject(s)
Lipids/chemistry , Models, Biological , Skin/metabolism , Administration, Cutaneous , Animals , Caffeine/pharmacokinetics , Calorimetry, Differential Scanning , Epidermal Cells , Epidermis/chemistry , Epidermis/metabolism , In Vitro Techniques , Niacinamide/pharmacokinetics , Progesterone/pharmacokinetics , Rabbits , Skin/chemistry , Skin/cytology , Skin Absorption , Species Specificity , Swine
10.
Rev Mal Respir ; 25(1): 63-7, 2008 Jan.
Article in French | MEDLINE | ID: mdl-18288053

ABSTRACT

INTRODUCTION: The diagnosis of chronic obstruction of the pulmonary artery is difficult. We present the case of a woman with an invasive, undifferentiated carcinoma of the pulmonary artery. CASE REPORT: A 61 year old woman complained of increasing dyspnoea. This was evaluated by computed tomography which showed a defect in the main pulmonary artery. There was no clinical or radiological improvement following anticoagulant treatment for two months. A repeat CT scan showed a persisting intravascular defect and the diagnoses considered included post-embolic pulmonary arterial hypertension and angiosarcoma. A surgical biopsy was performed and pericardial and aortic tumour nodules were found during the operation. The pathological examination revealed undifferentiated carcinoma. Further investigations failed to reveal the primary site. CONCLUSION: Invasion of the pulmonary artery by angiosarcoma or other tumour is part of the differential diagnosis of chronic thromboembolic disease. The diagnosis rests on histology obtained by an intravascular or surgical procedure. Complete surgical excision may be possible in angiosarcoma but it was impossible in our patient. The patient died despite two courses of chemotherapy and targeted therapy with erlotinib.


Subject(s)
Carcinoma/pathology , Lung Neoplasms/pathology , Pulmonary Artery/pathology , Vascular Neoplasms/pathology , Female , Humans , Middle Aged , Neoplasm Invasiveness
11.
Rev Med Interne ; 39(2): 99-106, 2018 Feb.
Article in French | MEDLINE | ID: mdl-28410768

ABSTRACT

Small fiber neuropathy (SFN) is still unknown. Characterised by neuropathic pain, it typically begins by burning feet, but could take many other expression. SFN affects the thinly myelinated Aδ and unmyelinated C-fibers, by an inherited or acquired mechanism, which could lead to paresthesia, thermoalgic disorder or autonomic dysfunction. Recent studies suggest the preponderant role of ion channels such as Nav1.7. Furthermore, erythromelalgia or burning mouth syndrome are now recognized as real SFN. Various aetiologies of SFN are described. It could be isolated or associated with diabetes, impaired glucose metabolism, vitamin deficiency, alcohol, auto-immune disease, sarcoidosis etc. Several mutations have recently been identified, like Nav1.7 channel leading to channelopathies. Diagnostic management is based primarily on clinical examination and demonstration of small fiber dysfunction. Laser evoked potentials, Sudoscan®, cutaneous biopsy are the main test, but had a difficult access. Treatment is based on multidisciplinary management, combining symptomatic treatment, psychological management and treatment of an associated etiology.


Subject(s)
Nerve Fibers/pathology , Small Fiber Neuropathy/diagnosis , Humans , Laser-Evoked Potentials/physiology , Small Fiber Neuropathy/etiology , Small Fiber Neuropathy/therapy
12.
J Clin Endocrinol Metab ; 92(9): 3446-52, 2007 Sep.
Article in English | MEDLINE | ID: mdl-17566093

ABSTRACT

OBJECTIVE: Our objective was to test the efficacy and tolerability of three doses of flutamide (125, 250, and 375 mg) combined with a triphasic oral contraceptive (ethynylestradiol/levonorgestrel) during 12 months to treat moderate to severe hirsutism in patients with polycystic ovary syndrome or idiopathic hirsutism. DESIGN: We conducted a randomized, double-blind, placebo-controlled, parallel clinical trial. PATIENTS: A total of 131 premenopausal women, suffering from moderate to severe hirsutism, were randomized to placebo or 125, 250, or 375 mg flutamide daily associated with a triphasic oral contraceptive pill. Hirsutism (Ferriman-Gallwey), acne and seborrhea (Cremoncini), and hormone serum levels were monitored at baseline and at 3 (except hormone serum levels), 6, and 12 months. Side effects and biochemical, hematological, and hepatic parameters were assessed. METHODS: We used three-way ANOVA (subject, dose, and visit) with Scheffé adjustment for multiple comparisons or nonparametrical Friedman test and least-squares mean (paired data) and Kruskall-Wallis test for unpaired data analyses. We used chi(2) or Fisher's test for categorical data. RESULTS: A total of 119 patients were included in the intention-to-treat analysis. All flutamide doses induced a significant decrease in hirsutism, acne, and seborrhea scores after 12 months compared with placebo without differences among dose levels. Similar related side effects were observed with placebo and 125 mg flutamide (12.5%), and slightly higher with 250 mg (17.3%) and 375 mg (21.2%). No statistically significant differences were observed either among doses or compared with placebo. CONCLUSIONS: Flutamide at 125 mg daily during 12 months was the minimum effective dose to diminish hirsutism in patients with polycystic ovary syndrome or with idiopathic hirsutism.


Subject(s)
Contraceptives, Oral, Hormonal/administration & dosage , Flutamide/administration & dosage , Hirsutism/drug therapy , Acne Vulgaris/drug therapy , Adolescent , Adult , Androgen Antagonists/administration & dosage , Androgen Antagonists/adverse effects , Contraceptives, Oral, Hormonal/adverse effects , Dermatitis, Seborrheic/drug therapy , Dose-Response Relationship, Drug , Double-Blind Method , Drug Administration Schedule , Drug Therapy, Combination , Female , Flutamide/adverse effects , Humans , Placebos , Time Factors , Treatment Outcome
13.
Clin Transl Oncol ; 9(8): 513-20, 2007 Aug.
Article in English | MEDLINE | ID: mdl-17720654

ABSTRACT

Surgeons have routinely removed ipsilateral axillary lymph nodes from women with breast cancer for over 100 years. The procedure provides important staging information, enhances regional control of the malignancy and may improve survival. As screening of breast cancer has increased, the mean size of newly diagnosed primary invasive breast cancers has steadily decreased and so has the number of women with lymph node metastases. Recognising that the therapeutic benefit of removing normal nodes may be low, alternatives to the routine level I/II axillary lymph node dissection have been sought. A decade ago sentinel lymph node biopsy (SLNB) was introduced. Because of its high accuracy and relatively low morbidity, this technique is now widely used to identify women with histologically involved nodes prior to the formal axillary node dissection. Specifically, SLNB has allowed surgeons to avoid a formal axillary lymph node biopsy in women with histologically uninvolved sentinel nodes, while identifying women with involved sentinel nodes who derive the most benefit from a completion axillary node dissection. Despite the increasing use of SLNB for initial management of the axilla in women with breast cancer, important questions remain regarding patient selection criteria and optimal surgical methods for performing the biopsy. This article discusses the evolution of axillary node surgery for women with breast cancer.


Subject(s)
Breast Neoplasms/surgery , Lymph Node Excision , Axilla/pathology , Axilla/surgery , Breast Neoplasms/physiopathology , Female , Humans , Lymph Nodes/physiopathology , Lymph Nodes/surgery , Lymphatic Metastasis/pathology , Neoplasm Staging , Sentinel Lymph Node Biopsy
14.
Rev Med Interne ; 28(12): 862-5, 2007 Dec.
Article in French | MEDLINE | ID: mdl-17707554

ABSTRACT

INTRODUCTION: Acquired hemophilia due to an inhibitor of factor VIII is a rare clinical situation. EXEGESIS: Rituximab is now used in the treatment of acquired hemophilia. We report two cases of acquired hemophilia treated by rituximab with efficiency. CONCLUSION: Rituximab appears to be a first line immunosuppressive therapy in acquired hemophilia, especially in post-partum hemophilia.


Subject(s)
Antibodies, Monoclonal/therapeutic use , Hemophilia A/drug therapy , Immunologic Factors/therapeutic use , Adult , Aged , Antibodies, Monoclonal, Murine-Derived , Factor VIII/metabolism , Female , Humans , Rituximab
15.
Arch Pediatr ; 24(12): 1267-1270, 2017 Dec.
Article in French | MEDLINE | ID: mdl-29153912

ABSTRACT

Acute epiglottis is a life-threatening disease in relation with the occurrence of an acute upper airway obstruction. Its incidence has fallen dramatically since the widespread introduction of Haemophilus influenzae type b (Hib) conjugate vaccine. We report the case of a 26-month-old child who was not fully immunized and presented acute upper airway respiratory distress with fever. The symptoms quickly evolved to a respiratory arrest condition with bradycardia, revealing epiglottitis due to Hib. Despite high immunization coverage with great efficacy and occurrence of herd immunity, this entity still exists because of the French population's skepticism of the routine vaccination schedule.


Subject(s)
Anti-Vaccination Movement , Epiglottitis/microbiology , Haemophilus Infections , Haemophilus influenzae , Acute Disease , Child, Preschool , Haemophilus Infections/prevention & control , Humans , Male , Severity of Illness Index
16.
Arch Pediatr ; 23(2): 176-9, 2016 Feb.
Article in French | MEDLINE | ID: mdl-26697812

ABSTRACT

The pharyngeal-cervical-brachial (PCB) variant of Guillain-Barré syndrome is rare in children. It is characterized by oropharyngeal, neck, and upper limb muscle involvement, without ataxia and disturbed consciousness. Although associated with anti-GT1a antibodies, there is no single clinical or serological marker of PCB syndrome. We report on two cases in a 14-year-old and a 15-year-old females. The first symptom was acute dysphonia followed by severe bulbar palsy with deglutition disorders, associated with involvement of other cranial nerves and arm and leg weakness. One of the girls had normal deep tendon reflexes. Both had normal cerebral imaging and normal cerebrospinal fluid. No sign of neuropathy was found on nerve conduction studies. The diagnosis of PCB syndrome was established based on the presence of antiganglioside antibodies. Both adolescents had IgG anti-GT1a antibodies. Anti-GQ1b and anti-GT1b antibodies were associated in the first case, anti-GM1 and anti-GD1a in the second case. Clinical improvement was fast after treatment with intravenous immunoglobulin therapy. Recovery was complete. Only a few cases of children and adolescents with PCB syndrome have been reported. The main differential diagnoses were excluded with brain MRI. The neurophysiological findings in PCB syndrome are axonal neuropathy rather than demyelinating neuropathy, which might be normal in the early stages of the disease. Positivity of anti-GT1a IgG antibodies is very helpful for the diagnosis of PCB syndrome. In atypical cases of bulbar palsy with other cranial nerve involvement and normal brain MRI, diagnosis of PCB syndrome should be considered. Recognizing the atypical cases of Guillain-Barré syndrome enables anticipatory monitoring for disease complications and identifies therapeutic options. The short- and long-term outcome of the PCB syndrome after intravenous immunoglobulin treatment seems favorable.


Subject(s)
Bulbar Palsy, Progressive/etiology , Guillain-Barre Syndrome/complications , Acute Disease , Adolescent , Female , Humans , Severity of Illness Index
17.
Metabolism ; 33(2): 107-10, 1984 Feb.
Article in English | MEDLINE | ID: mdl-6694553

ABSTRACT

A radioimmunoassay for plasma 3-methylhistidine (3MeHis) measurements has been developed. The assay has no significant crossreactivity with 18 other amino acids including histidine, carnosine, anserine, and creatinine. In normal subjects who have eaten no meat for 36 hours, plasma levels are constant over a 24-hour period (8.78 +/- 0.48 mumol/L, mean +/- SD). The use of 3MeHis for the assessment of intestinal protein absorption and its potential use as a marker of protein degradation were evaluated by studying its plasma kinetics. The absorption of the free 3MeHis is rapid and reaches a peak after 75 minutes. The peak is delayed after meat ingestion and reaches a maximum after 180 minutes. The ratio of the 75- to 180-minute 3MeHis levels was 1.40 +/- 0.06 for pure 3MeHis and 0.78 +/- 0.06 after meat ingestion (P less than 0.001). Peak height and area under the plasma concentration versus time curve were proportional to the dose received, indicating first order kinetics for 3 MeHis. It has a half-life of 12.2 hours, a metabolic clearance rate of 0.08 L/h and volume of distribution is 11.7 +/- 1.7 L as calculated from the serum values which were obtained up to 24 hours after oral 3MeHis administration. Its endogenous production can therefore be calculated to be 116 mumols per day in young subjects. Thus, the radioimmunoassay develops the potential of this amino acid as a marker of protein degradation and absorption for physiological investigations.


Subject(s)
Amino Acids/metabolism , Histidine/analogs & derivatives , Methylhistidines/blood , Muscle Proteins/metabolism , Adult , Cross Reactions , Female , Half-Life , Humans , Intestinal Absorption , Kinetics , Male , Radioimmunoassay/methods
18.
Rev Neurol (Paris) ; 156(5): 505-9, 2000 May.
Article in French | MEDLINE | ID: mdl-10844370

ABSTRACT

We report a case of a western African man, residing in France for 4 years, who developed human African trypanosomiasis (HAT) caused by Trypanosoma brucei gambiense. Diagnosis was made at a late stage of the disease. The disease was misdiagnosed and untreated for several years because the clinical presentation was limited to psychiatric disorders and biological confirmation was difficult. Polysomnographic recordings demonstrated typical alterations of HAT. Difluoromethylornithine was effective in this late stage of the disease. Magnetic resonance imaging showed brain edema with demyelination and associated brain atrophy and abnormal signals in the brainstem and thalamus, both implied in sleep-wake cycle.


Subject(s)
Magnetic Resonance Imaging , Meningoencephalitis/diagnosis , Neurocognitive Disorders/diagnosis , Trypanosoma brucei gambiense , Trypanosomiasis, African/diagnosis , Adult , Animals , Brain/pathology , Diagnosis, Differential , Eflornithine/therapeutic use , Humans , Male , Meningoencephalitis/drug therapy , Neurocognitive Disorders/drug therapy , Trypanocidal Agents/therapeutic use , Trypanosomiasis, African/drug therapy
19.
J Radiol ; 70(10): 581-3, 1989 Oct.
Article in French | MEDLINE | ID: mdl-2593114

ABSTRACT

The results of a survey on the role of digital angiography in the preoperative assessment of chronic lower limb arteritis demonstrate the diagnostic utility of combining digital image processing and arteriophlebography in a radiological system. This technique allows a practically complete assessment at one go, which is also made possible by the use of small material and of low-osmolarity contrast media, thus reducing the need for extensive anesthesia other than local anesthesia.


Subject(s)
Angiography, Digital Subtraction , Arteritis/diagnostic imaging , Leg/blood supply , Chronic Disease , Evaluation Studies as Topic , France , Humans , Surveys and Questionnaires
20.
J La State Med Soc ; 151(8): 414-9, 1999 Aug.
Article in English | MEDLINE | ID: mdl-10554477

ABSTRACT

This paper alerts physicians, health care workers, and employers to a probable connection between voluntary, infrequent voiding and urinary dysfunction. The dysfunction includes abnormal uroflow patterns, increased urethral resistance, abnormal post-void residuals, chronic trigonitis, and urethrovesical inflammatory polyps. A review of intermittent uroflow and obstructive uroflow patterns reveals that all females in this study worked long hours without voiding.


Subject(s)
Computer Terminals , Occupational Diseases/etiology , Urination Disorders/etiology , Urination/physiology , Adult , Female , Humans , Occupational Diseases/diagnosis , Occupational Diseases/therapy , Surveys and Questionnaires , Time Factors , Urination Disorders/diagnosis , Urination Disorders/therapy , Urodynamics
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