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1.
J Sci Food Agric ; 2024 Jul 09.
Article in English | MEDLINE | ID: mdl-38979953

ABSTRACT

BACKGROUND: Folic acid (FA), a synthetically produced compound analogous to vitamin B9, also referred to as vitamin folate, is an essential compound in human health and faces challenges in stability during food processing. This study explores the incorporation of FA into carboxymethylcellulose (CMC) nanofibers using electrospinning to enhance its stability. RESULTS: In this study, optimization of both electrospinning and solution parameters facilitated the fabrication of nanofibers. Furthermore, incorporating FA into CMC/polyethylene oxide (PEO) nanofibers resulted in thinner fibers, with an average diameter of 88 nm, characterized by a flat shape and smooth surface. Fourier transform infrared spectroscopic analysis demonstrated substantial hydrogen bonding interactions between FA and the polar groups present in CMC. This interaction contributed to an encapsulation efficiency of 94.5%, with a yield exceeding 87%. Thermal analysis highlighted mutual interference between CMC and PEO, with FA enhancing the thermal stability and reducing the melting temperatures and enthalpies of PEO, while also increasing the reaction heats of CMC. The encapsulated FA remained stable in acidic conditions, with only 6% degradation over 30 days, demonstrating the efficacy of CMC/PEO nanofibers in safeguarding FA against acidic environments. Moreover, the nanofibers provided a protective barrier against UV radiation, thereby preserving the stability of FA. CONCLUSION: This study emphasizes the efficacy of CMC/PEO nanofibers as a protective matrix against FA degradation. The findings indicate that this innovative approach could significantly diversify the applications of FA in food fortification, addressing concerns regarding its vulnerability to temperature and hydrolysis reactions during food processing. © 2024 Society of Chemical Industry.

2.
Environ Sci Pollut Res Int ; 30(9): 24088-24100, 2023 Feb.
Article in English | MEDLINE | ID: mdl-36334206

ABSTRACT

The role of nanozinc source (nanohydrozincite: nHZ; nanozinc oxide: nZO) on the performance of alkali-activated slag (AAS) was explored for the first time in the present work. The results showed that nHZ with different contents (0.5, 1.0, and 1.5 wt%) retards the early hydration rate of AAS, whereas nZO showed the lowest retardation effect. Zn(OH)2 is the main retarder inside AAS-nZO and AAS-nHZ, which consumes the dissolved Ca2+ (responsible for the early hardening of AAS) from slag to yield calcium zincate hydrate (CZH). The high retardation rate of nHZ is originated from its high affinity to consume much Ca2+ through the formation of additional pirssonite (Na2CO3.CaCO3.2H2O) double salt. Although adding nHZ induced the drying shrinkage of AAS, it improved the later compressive strengths (28 to 365 days), especially at low nHZ content (0.5 wt%), via the formation of CASH with lower Ca/Si ratio and higher binding capacity compared to that formed inside AAS and AAS-nZO. A further research is needed to reduce the drying shrinkage and to accelerate the early strength of AAS containing nHZ.


Subject(s)
Alkalies , Calcium , Compressive Strength , Desiccation , Oxides
3.
Nat Commun ; 10(1): 2401, 2019 06 03.
Article in English | MEDLINE | ID: mdl-31160580

ABSTRACT

Neurotechnology attempts to develop supernumerary limbs, but can the human brain deal with the complexity to control an extra limb and yield advantages from it? Here, we analyzed the neuromechanics and manipulation abilities of two polydactyly subjects who each possess six fingers on their hands. Anatomical MRI of the supernumerary finger (SF) revealed that it is actuated by extra muscles and nerves, and fMRI identified a distinct cortical representation of the SF. In both subjects, the SF was able to move independently from the other fingers. Polydactyly subjects were able to coordinate the SF with their other fingers for more complex movements than five fingered subjects, and so carry out with only one hand tasks normally requiring two hands. These results demonstrate that a body with significantly more degrees-of-freedom can be controlled by the human nervous system without causing motor deficits or impairments and can instead provide superior manipulation abilities.


Subject(s)
Cerebral Cortex/diagnostic imaging , Fingers/diagnostic imaging , Movement/physiology , Muscle, Skeletal/diagnostic imaging , Polydactyly/diagnostic imaging , Adolescent , Brain/diagnostic imaging , Brain/physiology , Cerebral Cortex/physiology , Female , Fingers/physiology , Functional Neuroimaging , Hand/diagnostic imaging , Hand/physiology , Humans , Magnetic Resonance Imaging , Male , Middle Aged , Muscle, Skeletal/physiology , Polydactyly/physiopathology
4.
Arch Pediatr ; 25(2): 118-125, 2018 Feb.
Article in English | MEDLINE | ID: mdl-29395881

ABSTRACT

AIM: Identifying early clinical and biological factors associated with severe forms of postdiarrheal hemolytic uremic syndrome (D+HUS) that may help practitioners determine appropriate treatment. METHODS: This retrospective study was conducted in 49 children with D+HUS between 2001 and 2011. Severe forms were defined as occurrence of one of the following conditions: death, major neurological involvement, cardiovascular involvement, and/or the presence of sequelae (neurological, cardiovascular, pancreatic, or renal). RESULTS: During the acute phase, 35 children exhibited at least one type of extrarenal involvement including 13 severe forms with a median delayed occurrence after admission of 4.5 days (range: 1-8) for comatose children and 5 days (range: 2-6) for cardiovascular involvement; 32 children required dialysis and three died. In multivariate analysis, (i) major neurological involvement (n=13), (ii) dialysis (n=32), and (iii) sequelae (n=12) were associated with (i) fever during the prodromal phase requiring dialysis at admission, (ii) C-reactive protein level (CRP) >22mg/L at admission, and (iii) major neurological involvement and a white blood cell count (WBC)>20×103/mm3 during the acute stage, respectively. CONCLUSIONS: D+HUS is a multiorgan disease with a delayed occurrence of life-threatening extrarenal organ involvement. Severe forms appear to be associated with early biological and clinical inflammatory parameters.


Subject(s)
Diarrhea/complications , Hemolytic-Uremic Syndrome/complications , Multiple Organ Failure/etiology , Adolescent , Child , Child, Preschool , Female , Humans , Infant , Male , Retrospective Studies , Risk Factors , Time Factors
5.
Biochim Biophys Acta Bioenerg ; 1859(2): 110-118, 2018 Feb.
Article in English | MEDLINE | ID: mdl-29107655

ABSTRACT

Microcin J25 has two targets in sensitive bacteria, the RNA polymerase, and the respiratory chain through inhibition of cellular respiration. In this work, the effect of microcin J25 in E. coli mutants that lack the terminal oxidases cytochrome bd-I and cytochrome bo3 was analyzed. The mutant strains lacking cytochrome bo3 or cytochrome bd-I were less sensitive to the peptide. In membranes obtained from the strain that only expresses cytochrome bd-I a great ROS overproduction was observed in the presence of microcin J25. Nevertheless, the oxygen consumption was less inhibited in this strain, probably because the oxygen is partially reduced to superoxide. There was no overproduction of ROS in membranes isolated from the mutant strain that only express cytochrome bo3 and the inhibition of the cellular respiration was similar to the wild type. It is concluded that both cytochromes bd-I and bo3 are affected by the peptide. The results establish for the first time a relationship between the terminal oxygen reductases and the mechanism of action of microcin J25.


Subject(s)
Bacteriocins/pharmacology , Cytochromes/biosynthesis , Electron Transport Chain Complex Proteins/biosynthesis , Escherichia coli Proteins/biosynthesis , Escherichia coli/enzymology , Gene Expression Regulation, Bacterial/drug effects , Gene Expression Regulation, Enzymologic/drug effects , Oxidoreductases/biosynthesis , Cytochrome b Group , Cytochromes/genetics , Electron Transport Chain Complex Proteins/genetics , Escherichia coli/genetics , Escherichia coli Proteins/genetics , Oxidoreductases/genetics , Reactive Oxygen Species/metabolism
6.
Arch Pediatr ; 24(10): 1019-1028, 2017 Oct.
Article in French | MEDLINE | ID: mdl-28927772

ABSTRACT

Antiglomerular basement membrane glomerulonephritis is a rare autoimmune disease characterized by rapidly progressive glomerulonephritis that may be associated with pulmonary hemorrhage (Goodpasture syndrome). The disease is caused by autoantibodies (classically IgGs) directed against the α3 subunit of type IV collagen. This is a rare disease in the adult population and extremely rare in children, with a reported cumulative annual incidence at 1/106 people/year. Among scarce reported pediatric cases (n=31), most are girls (M/F sex ratio, 1:4), and the mean age at diagnoses is 9.2±4.6 years. A medical diagnosis is an emergency and is based on the identification of specific antibodies in the serum, and pathognomonic linear fixation of IgGs along the glomerular basement membrane. Without appropriate treatment, the disease is generally fulminant, and patient and kidney survival is poor. Indeed, glomerular function strongly correlates with histological lesions. The current guidelines recommend the use of plasma exchanges and immunosuppressive drugs. For the past few years, alternative therapeutics such as specific anti-B-cell antibodies (rituximab) or specific extrarenal cleansing such as immunoadsorption have been successfully used in adults. Immunoadsorptions (IAs) can remove pathogenic IgGs from the circulation and do not require plasma infusions, contrary to plasma exchanges. In this review, we discuss the key points of antiglomerular basement membrane glomerulonephritis diagnosis and conventional or alternative therapeutics.


Subject(s)
Anti-Glomerular Basement Membrane Disease/therapy , Anti-Glomerular Basement Membrane Disease/diagnosis , Anti-Glomerular Basement Membrane Disease/etiology , Child , Humans
7.
Sci Rep ; 6: 25847, 2016 05 26.
Article in English | MEDLINE | ID: mdl-27225834

ABSTRACT

Experimentally induced sensorimotor conflicts can result in a loss of the feeling of control over a movement (sense of agency). These findings are typically interpreted in terms of a forward model in which the predicted sensory consequences of the movement are compared with the observed sensory consequences. In the present study we investigated whether a mismatch between movements and their observed sensory consequences does not only result in a reduced feeling of agency, but may affect motor perception as well. Visual feedback of participants' finger movements was manipulated using virtual reality to be anatomically congruent or incongruent to the performed movement. Participants made a motor perception judgment (i.e. which finger did you move?) or a visual perceptual judgment (i.e. which finger did you see moving?). Subjective measures of agency and body ownership were also collected. Seeing movements that were visually incongruent to the performed movement resulted in a lower accuracy for motor perception judgments, but not visual perceptual judgments. This effect was modified by rotating the virtual hand (Exp.2), but not by passively induced movements (Exp.3). Hence, sensorimotor conflicts can modulate the perception of one's motor actions, causing viewed "alien actions" to be felt as one's own.


Subject(s)
Hand/physiology , Motion Perception/physiology , Adult , Feedback, Sensory , Female , Humans , Male , Movement , Psychomotor Performance , Young Adult
8.
Scand J Med Sci Sports ; 26(2): 165-71, 2016 Feb.
Article in English | MEDLINE | ID: mdl-25683194

ABSTRACT

This study analyzed the relationships between isometric as well as concentric maximum voluntary contraction (MVC) strength of the leg muscles and the times as well as speeds over different distances in 17 young short track speed skaters. Isometric as well as concentric single-joint MVC strength and multi-joint MVC strength in a stable (without skates) and unstable (with skates) condition were tested. Furthermore, time during maximum skating performances on ice was measured. Results indicate that maximum torques during eversion and dorsal flexion have a significant influence on skating speed. Concentric MVC strength of the knee extensors was higher correlated with times as well as speeds over the different distances than isometric MVC strength. Multi-joint MVC testing revealed that the force loss between measurements without and with skates amounts to 25%, while biceps femoris and soleus showed decreased muscle activity and peroneus longus, tibialis anterior, as well as rectus femoris exhibited increased muscle activity. The results of this study depict evidence that the skating times and speeds are primarily influenced by concentric MVC strength of the leg extensors. To be able to transfer the strength onto ice in an optimal way, it is necessary to stabilize the knee and ankle joints.


Subject(s)
Athletic Performance/physiology , Muscle Strength , Muscle, Skeletal/physiology , Skating/physiology , Adolescent , Ankle Joint/physiology , Child , Electromyography , Exercise Test , Female , Humans , Isometric Contraction , Knee Joint/physiology , Lower Extremity , Male , Quadriceps Muscle/physiology , Torque
9.
Arch Pediatr ; 22(5): 547-53, 2015 May.
Article in French | MEDLINE | ID: mdl-25819592

ABSTRACT

Pyelonephritis is a common bacterial disease in young children and is a serious infection because of its potential to produce renal scarring. One of the concerns of physicians is therefore the diagnosis of uropathy at risk for recurrence of pyelonephritis, especially high-grade reflux. There are no French recommendations on imaging evaluation after a first episode of pyelonephritis. Voiding cystography was systematically proposed years ago and recommended by the American Academy of Pediatrics until 1999. This systematic strategy exposed all children to a painful, irradiating exam, and exposed them to urinary tract infection. The American recommendations changed in 2011 and cystography is now only proposed to children with recurrence of pyelonephritis or with ultrasound abnormalities. A collaborative review of the literature involving the Pediatric Emergency, Nephrology and Surgery Departments at Necker-Enfants-Malades Hospital led us to propose an algorithm for imaging after the first episode of pyelonephritis in children. This algorithm was based on data from the past medical history (results of prenatal ultrasonography or recurrence of pyelonephritis), the results of the ultrasound exam at the time of diagnosis, and the procalcitonin concentration, to limit the indications for voiding cystography, limiting risk for delaying high-grade reflux diagnosis. Children with low risk for high-grade reflux can be followed up with an ultrasound exam 6 months after acute infection.


Subject(s)
Pyelonephritis/diagnostic imaging , Vesico-Ureteral Reflux/diagnostic imaging , Algorithms , Calcitonin/blood , Calcitonin Gene-Related Peptide , Child , Child, Preschool , Cooperative Behavior , Female , Follow-Up Studies , Humans , Hydronephrosis/congenital , Hydronephrosis/diagnostic imaging , Infant , Infant, Newborn , Interdisciplinary Communication , Male , Pregnancy , Protein Precursors/blood , Pyelonephritis/congenital , Recurrence , Risk Factors , Ultrasonography, Prenatal , Vesico-Ureteral Reflux/congenital
10.
Eur J Pediatr ; 174(1): 23-32, 2015 Jan.
Article in English | MEDLINE | ID: mdl-24953377

ABSTRACT

UNLABELLED: Renovascular hypertension accounts for 5-10 % of hypertension cases in children; there is currently no consensus on treatment. Here, we report on our clinical experience with this disease and outline the different pathways in which to investigate it. We report retrospectively on ten children diagnosed with renovascular hypertension at the University Hospital of Nantes from 2001 to 2012. The main findings were obtained by fortuitous screening of children aged 2 months to 14 years old with neurofibromatosis (n = 2) and fibromuscular dysplasia (n = 8). The hypertension was always severe yet asymptomatic. Lesions were complicated in nine out of ten cases and included bilateral, multiple, mid-aortic syndrome and aneurysm. Doppler ultrasound associated with computed tomography allowed for a precise diagnosis in seven out of ten cases. Where ambiguities persisted, they were highlighted by arteriography, the gold standard investigation. Medical treatment was insufficient, leading to invasive procedures in nine out of ten children: 2 nephrectomies, 2 autotransplantations, and 21 repetitive percutaneous transluminal angioplasties. After invasive procedures, blood pressure control improved in four cases and was resolved in three. CONCLUSION: Arteriography remains to be the gold standard technique for renovascular hypertension in children and can be combined with angioplasty when medical treatment is rendered obsolete. The role of computed tomography is controversial. Despite the heterogeneity of the children studied, we present a general medical and therapeutic management pathway for the treatment of this disease.


Subject(s)
Hypertension, Renovascular/diagnosis , Hypertension, Renovascular/therapy , Adolescent , Angiography/methods , Angioplasty , Child , Child, Preschool , Female , Fibromuscular Dysplasia/complications , Humans , Infant , Male , Neurofibromatosis 1/complications , Renin-Angiotensin System/physiology , Retrospective Studies , Tomography, X-Ray Computed/methods , Ultrasonography, Doppler
11.
Mol Genet Metab ; 110(1-2): 106-10, 2013.
Article in English | MEDLINE | ID: mdl-23751327

ABSTRACT

INTRODUCTION: Patients with methylmalonic acidemia (MMA) may develop many complications despite medical treatment, in particular, severe central nervous system damage and chronic kidney disease (CKD). A kidney transplant may partially correct the metabolic dysfunctions. Liver, kidney and combined liver-kidney transplantations have been advocated but no guidelines are available to identify the most suitable organ to transplant. PATIENTS AND METHODS: Four patients with MMA (mut° phenotype) received a kidney graft because of repeated metabolic decompensations, with progression to CKD in 3 patients (end-stage kidney disease in two patients and CKD stage III in one patient with an estimated glomerular filtration rate [eGFR] of 40ml/min/1.73m(2)) but normal renal function in one (eGFR of 93ml/min/1.73m(2)) before transplantation. RESULTS: The medium age at transplantation was 7.9y (5-10.2) and the median follow-up was 2.8years (1.8-4.6). Renal transplantation improved the relevant metabolic parameters in 4/4 patients and renal function in the patients with CKD. Plasma and urinary MMA levels immediately decreased and remained normal or subnormal (mean values of plasma MMA before transplantation 1530µmol/L versus 240µmol/L after transplantation, and mean values of urine MMA before transplantation 4700mmol/mol creatinine versus 2300mmol/mol creatinine after transplantation). No further acute metabolic decompensation was observed and protein-intake was increased from 0.60 to 0.83g/Kg/day. One patient transplanted at age 9.7years developed a hepatoblastoma at age 11years with subsequent neurological complications and eventually died. The three other patients are alive. Two of them remained neurologically stable. The 3rd patient who displayed choreoathetosis transiently improved his neurological condition immediately after transplantation and then remained stable. CONCLUSION: Kidney transplantation represents an interesting alternative therapeutic option in methylmalonic aciduria, for renal complications but also as a "cellular therapy" that may significantly reduce metabolic decompensations and hospitalizations. However, further neurological impairment remains possible.


Subject(s)
Amino Acid Metabolism, Inborn Errors/therapy , Kidney Transplantation , Liver Transplantation , Metabolic Diseases/therapy , Renal Insufficiency, Chronic/therapy , Amino Acid Metabolism, Inborn Errors/blood , Amino Acid Metabolism, Inborn Errors/genetics , Amino Acid Metabolism, Inborn Errors/pathology , Amino Acid Metabolism, Inborn Errors/urine , Cell- and Tissue-Based Therapy , Child , Disease Progression , Female , Glomerular Filtration Rate , Humans , Male , Metabolic Diseases/genetics , Methylmalonic Acid/blood , Methylmalonic Acid/urine , Renal Insufficiency, Chronic/genetics , Renal Insufficiency, Chronic/pathology
12.
Exp Brain Res ; 228(2): 173-81, 2013 Jul.
Article in English | MEDLINE | ID: mdl-23665753

ABSTRACT

In real-life situations, we are often required to recognize our own movements among movements originating from other people. In social situations, these movements are often correlated (for example, when dancing or walking with others) adding considerable difficulty to self-recognition. Studies from visual search have shown that visual attention can selectively highlight specific features to make them more salient. Here, we used a novel visual search task employing virtual reality and motion tracking to test whether visual attention can use efferent information to enhance self-recognition of one's movements among four or six moving avatars. Active movements compared to passive movements allowed faster recognition of the avatar moving like the subject. Critically, search slopes were flat for the active condition but increased for passive movements, suggesting efficient search for active movements. In a second experiment, we tested the effects of using the participants' own movements temporally delayed as distractors in a self-recognition discrimination task. We replicated the results of the first experiment with more rapid self-recognition during active trials. Importantly, temporally delayed distractors increased reaction times despite being more perceptually different than the spatial distractors. The findings demonstrate the importance of agency in self-recognition and self-other discrimination from movement in social settings.


Subject(s)
Attention/physiology , Movement/physiology , Pattern Recognition, Visual/physiology , Photic Stimulation/methods , Reaction Time/physiology , Adult , Female , Humans , Male , Young Adult
13.
Eur J Neurosci ; 37(7): 1120-9, 2013 Apr.
Article in English | MEDLINE | ID: mdl-23351116

ABSTRACT

Although there is increasing knowledge about how visual and tactile cues from the hands are integrated, little is known about how self-generated hand movements affect such multisensory integration. Visuo-tactile integration often occurs under highly dynamic conditions requiring sensorimotor updating. Here, we quantified visuo-tactile integration by measuring cross-modal congruency effects (CCEs) in different bimanual hand movement conditions with the use of a robotic platform. We found that classical CCEs also occurred during bimanual self-generated hand movements, and that such movements lowered the magnitude of visuo-tactile CCEs as compared to static conditions. Visuo-tactile integration, body ownership and the sense of agency were decreased by adding a temporal visuo-motor delay between hand movements and visual feedback. These data show that visual stimuli interfere less with the perception of tactile stimuli during movement than during static conditions, especially when decoupled from predictive motor information. The results suggest that current models of visuo-tactile integration need to be extended to account for multisensory integration in dynamic conditions.


Subject(s)
Body Image , Motor Skills , Touch Perception/physiology , Visual Perception/physiology , Adult , Feedback, Sensory , Female , Humans , Male , Reaction Time , Robotics
14.
Conscious Cogn ; 21(3): 1355-64, 2012 Sep.
Article in English | MEDLINE | ID: mdl-22832215

ABSTRACT

Recent studies have shown the importance of integrating multisensory information in the body representation for constituting self-consciousness. However, one idea that has received only scant attention is that our body representation is also constituted by knowledge of bodily visual characteristics (i.e. 'what I look like'). Here in two experiments we used a full body crossmodal congruency task in which visual distractors were presented on a photograph of the participant, another person, who was either familiar or unfamiliar, or an object. Results revealed that during the 'self-condition' CCEs were enhanced compared to the 'other condition'. The CCE was similar for unfamiliar and familiar others. CCEs for the object condition were significantly smaller. The results show that presentation of an irrelevant image of a body affects multimodal processing and that the effect is enhanced when that image is of the self. The results hold intriguing implications for body representation in social situations.


Subject(s)
Body Image/psychology , Touch Perception , Visual Perception , Consciousness , Humans , Male , Photic Stimulation , Reaction Time , Recognition, Psychology , Young Adult
15.
Parkinsonism Relat Disord ; 18(3): 268-73, 2012 Mar.
Article in English | MEDLINE | ID: mdl-22104012

ABSTRACT

BACKGROUND: Deep brain stimulation (DBS) of the subthalamic nucleus is an accepted therapy for advanced Parkinson's disease (PD). In animal models, pharmacologic ablation and stimulation of the subthalamic nucleus have resulted in clinical improvement and, in some cases, improved survival of dopaminergic neurons. DBS has not been studied in the early stages of PD, but early application should be explored to evaluate safety, efficacy, and the potential to alter disease progression. METHODS: We are conducting a prospective, randomized, single-blind clinical trial of optimal drug therapy (ODT) compared to medication plus DBS (ODT + DBS) in subjects with Hoehn & Yahr Stage II idiopathic PD who are without motor fluctuations or dementia. We report here subject screening, enrollment, baseline characteristics, and adverse events. RESULTS: 30 subjects (average age 60 ± 6.9 years, average duration of medicine 2.1 ± 1.3 years, average UPDRS-III scores 14.9 on medication and 27.0 off medication) are enrolled in the ongoing study. Twelve of 15 subjects randomized to DBS experienced perioperative adverse events, the majority of which were related to the procedure or device and resolved without sequelae. Frequently reported adverse events included wound healing problems, headache, edema, and confusion. CONCLUSION: This report demonstrates that subjects with early stage PD can be successfully recruited, consented and retained in a long-term clinical trial of DBS. Our ongoing pilot investigation will provide important preliminary safety and tolerability data concerning the application of DBS in early stage PD.


Subject(s)
Deep Brain Stimulation , Parkinson Disease/therapy , Patient Selection , Aged , Female , Humans , Male , Middle Aged , Pilot Projects , Single-Blind Method
16.
J Neuroradiol ; 37(4): 220-30, 2010 Oct.
Article in English | MEDLINE | ID: mdl-20378176

ABSTRACT

OBJECTIFS: To propose a MRI cerebellar algorithm that may be applied to guide genetic/malformative or biochemical investigations for patients with cerebellar ataxia. PATIENTS AND METHODS: Cerebral MRI of 158 patients with cerebellar ataxia and no supratentorial abnormality were examined according to a new categorization system based on posterior fossa imaging. The clinical and radiological findings were confronted to biochemical and/or genetic results using the MR cerebellar algorithm. Seven groups of cerebellar MRI pattern were described: vermian dysgenesis (n=27), cerebellar hypoplasia (n=15), hemispheric cerebellar dysgenesis (n=6), unilateral hemispheric atrophy (n=5), global cerebellar atrophy (n=84), signal abnormalities (n=11) and normal MRI (n=10). Cerebellar hypoplasia, vermian dysgenesis and hemispheric cerebellar dysgenesis groups were classified as malformative disorders. Global atrophy and signal abnormality groups were classified as metabolic disorders. RESULTS: In the vermian dysgenesis group, a specific genetic diagnosis was obtained in eight children (8/27) and all of the mutated genes (AHI1 (JBS3), CEP290 (JBS5), TMEM67 (JBS6), and RPGRIP1L (JBS7)) are involved in primary cilia function. In the group of pontocerebellar hypoplasia specific genetic diagnosis was obtained in one patient (PCH2) (1/15). Thus, nine of 42 children classified as malformative disorder had a molecular diagnosis. Global atrophy and signal abnormality groups were classified as metabolic disorders, specific biochemical was obtained in 46/95 children. In global atrophy group, respiratory chain deficiency was diagnosed in 18 children (18/84). In 21 children a congenital disorders of glycosylation type 1a (CDG Ia) was diagnosed (21/84) and infantile neuroaxonale dystrophy (INAD) was diagnosed in one child. In signal abnormalities group, specific biochemical diagnosis was obtained in six out of 11 children, five children with respiratory chain deficiency and one child with sulphite oxidase deficiency. In hemispheric cerebellar dysgenesis and normal MRI groups, no biological diagnosis was found for any of the patients. In the group of unilateral hemispheric atrophy, we hypothesized a clastic prenatal injury. CONCLUSION: The proposed MR cerebellar algorithm was useful to guide genetic/malformative or biochemical investigations, allowing an etiological diagnosis in 55 children.


Subject(s)
Cerebellar Ataxia/pathology , Cerebellum/pathology , Cranial Fossa, Posterior/pathology , Adolescent , Algorithms , Cerebellum/abnormalities , Child , Child, Preschool , Cranial Fossa, Posterior/abnormalities , Female , Humans , Magnetic Resonance Imaging , Male , Patient Selection
17.
Cells Tissues Organs ; 191(3): 203-12, 2010.
Article in English | MEDLINE | ID: mdl-19776547

ABSTRACT

Experimentation with the progenitor/stem cells in adult prostate epithelium can be inconvenient due to a tight time line from tissue acquisition to cell isolation and to downstream experiments. To circumvent this inconvenience, we developed a simple technical procedure for culturing epithelial cells derived from human prostate tissue. In this study, benign prostate tissue was enzymatically digested and fractionated into epithelium and stroma, which were then cultured in the medium designed for prostate epithelial and stromal cells, respectively. The cultured cells were analyzed by immunocytochemical staining and flow cytometry. Prostate tissue-regenerating capacity of cultured cells in vitro was determined by co-culturing epithelial and stromal cells in dihydrotestosterone-containing RPMI. Cell lineages in formed acini-like structures were determined by immunohistochemistry. The culture of epithelial cells mainly consisted of basal cells. A minor population was negative for known lineage markers and positive for CD133. The culture also contained cells with high activity of aldehyde dehydrogenase. After co-culturing with stromal cells, the epithelial cells were able to form acini-like structures containing multiple cell lineages. Thus, the established culture of prostate epithelial cells provides an alternative source for studying progenitor/stem cells of prostate epithelium.


Subject(s)
Epithelial Cells/cytology , Prostate , Regeneration , AC133 Antigen , Adult , Adult Stem Cells/cytology , Adult Stem Cells/physiology , Aldehyde Dehydrogenase/metabolism , Antigens, CD/biosynthesis , Cell Differentiation , Cell Lineage , Cell Separation , Cells, Cultured , Coculture Techniques/methods , Culture Media/chemistry , Dihydrotestosterone/chemistry , Epithelial Cells/physiology , Glycoproteins/biosynthesis , Humans , Male , Organ Culture Techniques/methods , Peptides , Prostate/cytology , Prostate/physiology , Stromal Cells/cytology , Stromal Cells/physiology
19.
J Urol ; 179(2): 674-9; discussion 679, 2008 Feb.
Article in English | MEDLINE | ID: mdl-18082208

ABSTRACT

PURPOSE: Antibiotic prophylaxis is given to children at risk for urinary tract infection. However, evidence concerning its effectiveness in grade I to III vesicoureteral reflux is lacking. The objective of this study was to determine whether antibiotic prophylaxis reduces the incidence of urinary tract infection in young children with low grade vesicoureteral reflux. MATERIALS AND METHODS: Children 1 month to 3 years old with grade I to III vesicoureteral reflux were assigned randomly to receive daily cotrimoxazole or no treatment, and followed for 18 months. A urinary tract infection constituted an exit criterion. Infection-free survival rates were calculated using the Kaplan-Meier method and compared using the log rank test. RESULTS: A total of 225 children were enrolled in the study. Distribution of gender, age at inclusion and reflux grade were similar between the 2 groups. There was no significant difference in the occurrence of urinary tract infection between the 2 groups (17% vs 26%, p = 0.2). However, a significant association was found between treatment and patient gender (p = 0.017). Prophylaxis significantly reduced urinary tract infection in boys (p = 0.013), most notably in boys with grade III vesicoureteral reflux (p = 0.042). CONCLUSIONS: These data suggest that antibiotic prophylaxis does not reduce the overall incidence of urinary tract infection in children with low grade vesicoureteral reflux. However, such a strategy may prevent further urinary tract infection in boys with grade III reflux.


Subject(s)
Anti-Infective Agents, Urinary/therapeutic use , Antibiotic Prophylaxis , Trimethoprim, Sulfamethoxazole Drug Combination/therapeutic use , Urinary Tract Infections/etiology , Urinary Tract Infections/prevention & control , Vesico-Ureteral Reflux/complications , Disease-Free Survival , Female , Follow-Up Studies , Humans , Infant , Male , Prospective Studies , Secondary Prevention , Sex Factors , Treatment Outcome
20.
Arch Virol ; 153(3): 427-34, 2008.
Article in English | MEDLINE | ID: mdl-18058063

ABSTRACT

The N-terminal caspase cleavage in the nucleoprotein (NP) of influenza A virus is correlated with the host origin of the virus, thus could be a molecular determinant for host range. We studied how mutations targeting the NP cleavage motif of human and avian influenza viruses affect virus replication in vitro and in vivo. The "avian-like" D16-->G substitution in the NP, which makes this protein resistant to cleavage, did not significantly affect the human A/Puerto Rico/8/34 (H1N1) virus replication in vitro but decreased the lethality of this virus in mice by 68-fold. Gene incompatibility contributed to the attenuated phenotype of the reassortant A/Puerto Rico/8/34 virus with avian NP derived from A/Teal/Hong Kong/w312/97 (H6N1) virus in vitro and in vivo. Insertion of the "human-like" G16-->D mutation into avian NP, which resulted in susceptibility to caspase cleavage, did not rescue virulence, but made the reassortant virus even more attenuated. Introducing the human-like G16-->D substitution into the NP of highly pathogenic A/Vietnam/1203/04 (H5N1) virus decreased lethality in mice. We confirmed that position 16, which associated with the N-terminal caspase cleavage of the NP, is important for optimal virus fitness in vitro and in vivo. An avian-like mutation at position 16 in the NP of human virus as well as a human-like substitution at this residue in avian NP both resulted in virus attenuation.


Subject(s)
Caspases/metabolism , Influenza A virus/physiology , Nucleoproteins/chemistry , Nucleoproteins/genetics , RNA-Binding Proteins/chemistry , RNA-Binding Proteins/genetics , Viral Core Proteins/chemistry , Viral Core Proteins/genetics , Amino Acid Sequence , Animals , Chickens/virology , Humans , Influenza A virus/genetics , Influenza A virus/pathogenicity , Influenza in Birds/virology , Influenza, Human/virology , Mice , Mutation , Nucleocapsid Proteins , Nucleoproteins/metabolism , RNA-Binding Proteins/metabolism , Recombination, Genetic , Viral Core Proteins/metabolism , Virus Replication/genetics
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