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1.
Ultramicroscopy ; 208: 112854, 2020 Jan.
Article in English | MEDLINE | ID: mdl-31627068

ABSTRACT

eCHORD is an alternative method for orientation mapping in Scanning Electron Microscopy that involves channeling contrast observed in BSE images. The sample tilt being small (10°), eCHORD could be a promising method for large scale maps as it limits the image deformation sometimes observed with EBSD maps. However, when the magnification is low, the scan deflection of the beam becomes important, which may modify the channeling conditions of analyzed grains, leading to orientation errors. A correction method for the resulting orientations is proposed and a resulting map on a Si single crystal is presented with an experimental misorientation of 0.12° across a field of view of 2.3 × 1.7 mm2.

2.
Transfus Clin Biol ; 26(3): 150-151, 2019 Sep.
Article in French | MEDLINE | ID: mdl-31400931

ABSTRACT

Uterine atony is the primary cause of post-partum haemorrhage. Blood loss in a maternity setting is difficult to recognize. Early and empiric use of fixed transfusion red blood cell:plasma:platelet ratios is controversial and may not be justified for all causes of haemorrhage.


Subject(s)
Blood Transfusion , Delivery Rooms , Postnatal Care/methods , Postpartum Hemorrhage/therapy , Uterine Inertia/physiopathology , Anesthetists/psychology , Attitude of Health Personnel , Blood Transfusion/methods , Female , Fibrinogen/therapeutic use , Hemostatics/therapeutic use , Humans , Oxytocics/therapeutic use , Oxytocin/therapeutic use , Patient Care Team , Postpartum Hemorrhage/etiology , Pregnancy , Tranexamic Acid/therapeutic use , Unnecessary Procedures
3.
Arch Gynecol Obstet ; 300(4): 869-874, 2019 10.
Article in English | MEDLINE | ID: mdl-31302733

ABSTRACT

PURPOSE: To estimate the maternal and fetal prognosis for attempted vaginal deliveries of fetuses in face compared with vertex presentations. To evaluate the factors associated with a cesarean during labor for fetuses in face presentation. METHODS: This case-control study collected all the cases of face presentation in a university hospital level-3 maternity ward between 22 and 42 weeks of gestation over a 16-year period. For each case, we selected three control cases with vertex presentations delivered the same day. Cesareans before labor were excluded. RESULTS: We compared 60 attempted vaginal deliveries of fetuses in face presentation with 174 of fetuses in vertex presentation. The cesarean rate during labor was more than three times higher for the face presentations (31.7 vs 9.2%, P < 0.0001). Arterial pH values and Apgar scores were similar in both sets of newborns. After logistic regression, the factors associated with a cesarean during labor were nulliparity and early diagnosis of the presentation (i.e., before 5 cm dilatation). The initial position (mentum-anterior vs. transverse or posterior) was not significantly associated with the mode of delivery. CONCLUSIONS: In face presentations, attempted vaginal delivery triples the cesarean risk. Nonetheless, more than two-thirds of these women give birth vaginally without any impairment of neonatal condition.


Subject(s)
Delivery, Obstetric/adverse effects , Labor Presentation , Adult , Case-Control Studies , Female , Humans , Infant, Newborn , Pregnancy , Prognosis , Retrospective Studies
4.
Ultramicroscopy ; 202: 68-75, 2019 Jul.
Article in English | MEDLINE | ID: mdl-30991264

ABSTRACT

Crystalline orientation maps are obtained in a Focused Ion Beam (FIB) microscope using the ion CHanneling ORientation Determination (iCHORD) method, which relies on the channeling phenomenon observed in ion-induced secondary electron images. The current paper focuses on the angular resolution that can be expected from such orientation maps, obtained using a revisited ion channeling model. A specific procedure was developed to evaluate the angular resolution, based on the distribution of orientation errors when evaluating controlled sample disorientation. The main advantage is that no external reference is required. An angular resolution of 1° is obtained on a nickel based sample using standard acquisition conditions. This value fulfills most of the needs in terms of microstructural characterization usually carried out by Electron Back Scattered Diffraction.

5.
Ultramicroscopy ; 186: 146-149, 2018 03.
Article in English | MEDLINE | ID: mdl-29335223

ABSTRACT

We present a proof-of-concept attesting the feasability to obtain orientation maps of polycrystalline materials within a conventional Scanning Electron Microscope (SEM) using a standard goniometer and Back Scattered Electron (BSE) detector. The described method is based on the analysis of the contrast variation of grains due to the channeling of incident electrons on a rotating sample. On each pixel of the map, experimental intensity profiles as a function of the rotation angle are obtained and compared with simulated ones to retrieve the orientation. From first results on aluminum polycrystals, the angular resolution is estimated to be better than one degree.

6.
Gynecol Obstet Fertil ; 44(6): 322-8, 2016 Jun.
Article in English | MEDLINE | ID: mdl-27216959

ABSTRACT

OBJECTIVES: To evaluate the interest of rectal and vaginal filling in vaginal and recto-sigmoid endometriosis with MR imaging. To compare the results between a senior and a junior radiologist review. METHODS: Sixty-seven patients with clinically suspected deep infiltrating endometriosis were included in our MRI protocol consisting of repeated T2-weigthed sequences (axial and sagittal) before and after rectal and vaginal marking with ultrasonography gel. Vaginal and recto-sigmoid endometriosis lesions were analyzed before and after opacification. The inter-reader agreement between senior and junior scores was studied. RESULTS: Concerning vaginal and muscularis and beyond colonic involvement, no significant difference (P=0.32) was observed and the inter-reader agreement was excellent (K=0.96 and 0.97 respectively). Concerning serosa colonic lesions, a significant difference was observed (P=0.01) and the inter-reader agreement was poor (K=0). CONCLUSIONS: Rectal and vaginal filling in endometriosis staging with MRI is not necessary no matter the reader experiment.


Subject(s)
Endometriosis/diagnostic imaging , Endometriosis/pathology , Magnetic Resonance Imaging/methods , Rectum/pathology , Vagina/pathology , Adult , Clinical Competence , Colon, Sigmoid/pathology , Female , Humans , Middle Aged , Observer Variation , Rectal Diseases/pathology , Sigmoid Diseases/pathology , Vaginal Diseases/pathology
7.
Nano Lett ; 15(8): 5075-80, 2015 Aug 12.
Article in English | MEDLINE | ID: mdl-26146846

ABSTRACT

Fe-Au core-shell nanoparticles displaying an original polyhedral morphology have been successfully synthesized through a physical route. Analyses using transmission electron microscopy show that the Au shell forms truncated pyramids epitaxially grown on the (100) facets of the iron cubic core. The evolution of the elastic energy and strain field in the nanoparticles as a function of their geometry and composition is calculated using the finite-element method. The stability of the remarkable centered core-shell morphology experimentally observed is attributed to the weak elastic energy resulting from the low misfit at the Fe/Au (100) interface compared to the surface energy contribution.

8.
Ultramicroscopy ; 157: 65-72, 2015 Oct.
Article in English | MEDLINE | ID: mdl-26094201

ABSTRACT

A new method, which we name ion CHanneling ORientation Determination (iCHORD), is proposed to obtain orientation maps on polycrystals via ion channeling. The iChord method exploits the dependence between grain orientation and ion beam induced secondary electron image contrast. At each position of the region of interest, intensity profiles are obtained from a series of images acquired with different orientations with respect to the ion beam. The profiles are then compared to a database of theoretical profiles of known orientation. The Euler triplet associated to the most similar theoretical profile gives the orientation at that position. The proof-of-concept is obtained on a titanium nitride sample. The potentialities of iCHORD as an alternative to EBSD are then discussed.

9.
Leukemia ; 29(7): 1485-95, 2015 Jul.
Article in English | MEDLINE | ID: mdl-25736236

ABSTRACT

In this study, we investigated the role of inositol polyphosphate-4-phosphatase, type-II (INPP4B) in acute myeloid leukemia (AML). We observed that AML patients with high levels of INPP4B (INPP4B(high)) had poor response to induction therapy, shorter event-free survival and shorter overall survival. Multivariate analyses demonstrated that INPP4B(high) was an independent predictor of poor prognosis, significantly improving current predictive models, where it outperformed conventional biomarkers including FLT3-ITD and NPM1. Furthermore, INPP4B(high) effectively segregated relative risk in AML patients with normal cytogenetics. The role of INPP4B on the biology of leukemic cells was assessed in vitro. Overexpression of INPP4B in AML cell lines enhanced colony formation potential, recapitulated the chemotherapy resistance observed in AML patients and promoted proliferation in a phosphatase-dependent, and Akt-independent manner. These findings reveal that INPP4B(high) has an unexpected role consistent with oncogenesis in AML, in contrast to its previously reported tumor-suppressive role in epithelial cancers. Overall, we propose that INPP4B is a novel prognostic biomarker in AML that has potential to be translated into clinical practice both as a disease marker and therapeutic target.


Subject(s)
Antineoplastic Combined Chemotherapy Protocols/therapeutic use , Drug Resistance, Neoplasm , Leukemia, Myeloid, Acute/metabolism , Leukemia, Myeloid, Acute/therapy , Phosphoric Monoester Hydrolases/metabolism , fms-Like Tyrosine Kinase 3/metabolism , Adolescent , Adult , Aged , Aged, 80 and over , Apoptosis/drug effects , Apoptosis/radiation effects , Blotting, Western , Cell Proliferation/drug effects , Cell Proliferation/radiation effects , Chemoradiotherapy , Cytarabine/administration & dosage , Daunorubicin/administration & dosage , Female , Fluorescent Antibody Technique , Follow-Up Studies , Humans , Immunoenzyme Techniques , Leukemia, Myeloid, Acute/mortality , Leukemia, Myeloid, Acute/pathology , Male , Middle Aged , Mutation/genetics , Neoplasm Staging , Nucleophosmin , Phosphoric Monoester Hydrolases/genetics , Prognosis , RNA, Messenger/genetics , Radiation, Ionizing , Real-Time Polymerase Chain Reaction , Reverse Transcriptase Polymerase Chain Reaction , Survival Rate , Tandem Repeat Sequences/genetics , Tumor Cells, Cultured , Young Adult , fms-Like Tyrosine Kinase 3/genetics
10.
J Gynecol Obstet Biol Reprod (Paris) ; 44(9): 848-54, 2015 Nov.
Article in French | MEDLINE | ID: mdl-25604153

ABSTRACT

OBJECTIVE: Evaluate neonatal management and outcome of neonates with either a prenatal or a post-natal diagnosis of EA type III. STUDY DESIGN: Population-based study using data from the French National Register for EA from 2008 to 2010. We compared children with prenatal versus post-natal diagnosis in regards to prenatal, maternal and neonatal characteristics. We define a composite variable of morbidity (anastomotic esophageal leaks, recurrent fistula, stenosis) and mortality at 1 year. RESULTS: Four hundred and eight live births with EA type III were recorded with a prenatal diagnosis rate of 18.1%. Transfer after birth was lower in prenatal subset (32.4% versus 81.5%, P<0.001). Delay between birth and first intervention was not significantly different. Defect size (2cm vs 1.4cm, P<0.001), gastrostomy (21.6% versus 8.7%, P<0.001) and length in neonatal unit care were higher in prenatal subset (47.9 days versus 33.6 days, P<0.001). The composite variables were higher in prenatal diagnosis subset (38.7% vs 26.1%, P=0.044). CONCLUSION: Despite the excellent survival rate of EA, cases with antenatal detection have a higher morbidity related to the EA type (longer gap). Even if it does not modify neonatal management and 1-year outcome, prenatal diagnosis allows antenatal parental counseling and avoids post-natal transfer.


Subject(s)
Esophageal Atresia/diagnosis , Esophageal Atresia/therapy , Prenatal Diagnosis , Age Factors , Esophageal Atresia/classification , Female , Humans , Infant, Newborn , Pregnancy , Prospective Studies , Treatment Outcome
11.
Gynecol Obstet Fertil ; 43(2): 109-16, 2015 Feb.
Article in French | MEDLINE | ID: mdl-25595945

ABSTRACT

OBJECTIVE: Does surgery for deep infiltrating endometriosis (DIE) before in vitro fertilization (IVF) improve pregnancy and birth rate? PATIENTS AND METHODS: Cohort study of 177 consecutive patients with DIE related infertility and receiving IVF. Patients were divided into 3 groups according to surgical management decided during multidisciplinary team meeting. Group no surgery (NS) (n=65), group complete surgery (CS) with complete resection of all lesions (n=49) and group incomplete surgery (IS) with gestures improving ovaries accessibility for IVF and/or facilitating embryonic implantation (n=63). Pre-surgery clinical, MRI lesion locations, and history of IVF characteristics were analyzed with logistic regression. RESULTS: There was no significant difference in general and IVF characteristics and in the severity of endometriosis among the three groups (P=0.43). Overall pregnancy and birth rates after IVF were 45.8% and 33.3%, respectively and were not different among the 3 groups (P=0.59 and P=0.49). Four major complications during oocytes retrievals were observed in NS group, one in IS group and none in CS group. Presence of an inter-utero-rectal lesion at MRI decreased the rate of pregnancy (OR=0.49 [0.25, 0.97]). DISCUSSION AND CONCLUSIONS: Surgery for deep infiltrating endometriosis does not improve pregnancy and birth rates before IVF. This inter-utero-rectal extensive lesion might explain IVF failures by ovarian difficult access and difficulties in embryonic transfers. Further studies should explore the impact of surgical excision of inter-utero-rectal lesion on oocyte retrieval and embryonic transfer.


Subject(s)
Birth Rate , Endometriosis/surgery , Fertilization in Vitro , Pregnancy Rate , Adult , Cohort Studies , Endometriosis/pathology , Female , Humans , Infertility, Female/therapy , Pregnancy
12.
Eur Radiol ; 25(2): 306-14, 2015 Feb.
Article in English | MEDLINE | ID: mdl-25304819

ABSTRACT

OBJECTIVE: Present challenges are to improve the diagnosis rate of oesophageal atresia (OA) and evaluate as completely as possible a fetus affected by OA, specifically the type of OA and the length of the gap. Our aim was to evaluate the accuracy of fetal MR imaging (fMRI) for diagnosis of OA. METHODS: We reviewed fMRI performed because of sonographic suspicion of an OA. The signs reviewed included stomach size, "pouch sign", bowing of the trachea and visualization of the lower oesophageal lumen. The fetuses were assigned by consensus as having or not having EA, as well as having a tracheaoesophageal fistula (TOF). All findings were correlated with postnatal data. Sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV) were calculated. RESULTS: Se, Sp, PPV and NPV of the technique were respectively 91%, 100%, 100% and 88%. The presence of the pouch sign yielded corresponding values of 82%, 100%, 100% and 78%. Mid-tracheal bowing was correlated positively with EA. The type of atresia was correctly evaluated in 90% of patients. CONCLUSION: fMRI is useful for the diagnosis of EA through the visualization of the oesophageal pouch or through associated signs such as tracheal bowing. Visualization of the lower oesophageal lumen seems to be a good sign of TEF. KEY POINTS: • Challenges are to improve the prenatal diagnosis of EA and associated malformations. • fMRI is able to diagnose EA through demonstration of the pouch sign. • Tracheal bowing is a promising indirect sign of EA. • Tracheoesophageal fistula can also be suspected thanks to fMRI. • Obstetrical US, fMRI and fetal CT are complementary for assessing associated malformations.


Subject(s)
Esophageal Atresia/diagnosis , Fetal Diseases/diagnosis , Adult , Esophageal Atresia/embryology , Female , Gestational Age , Humans , Magnetic Resonance Imaging/methods , Pregnancy , Prenatal Diagnosis/methods , Retrospective Studies , Sensitivity and Specificity , Stomach/embryology , Tracheoesophageal Fistula/diagnosis , Tracheoesophageal Fistula/embryology
13.
Bone Marrow Transplant ; 49(12): 1492-7, 2014 Dec.
Article in English | MEDLINE | ID: mdl-25222500

ABSTRACT

In an attempt to reduce the incidence of chronic GVHD (cGVHD) after reduced-intensity conditioning (RIC), we used BM instead of PBSC and added melphalan 100 mg/m(2) to the classical association of fludarabine, 30 mg/m(2)/day for 3 days and TBI, 200 cGy (FLUIM regimen). Between 2000 and 2012, 51 patients received BM with the FLUIM regimen (group A), and 124 received BM (n=22) or PBSC (n=102) with another RIC regimen (group B). Donors were siblings (n=123) or HLA-matched 10/10 unrelated (n=52). Full donor-type chimerism at day 100 was more often recorded in group A (86%) than in group B (62%); P<0.001. There was no difference between the two groups in terms of OS and EFS, acute GVHD, relapse and non-relapse mortality incidence. cGVHD occurred more often in group B (41%) than in group A (23%); P=0.021. In multivariate analysis, the two risk factors associated with the development of cGVHD were conditioning in group B (hazard ratio (HR)=2.871, 95% confidence interval (CI) (1.372-6.006); P=0.005) and CD34(+) count (HR=1.009, 95% CI (1.006-1.011); P<0.001). In conclusion, the FLUIM regimen followed by BM leads to more frequent full-donor chimerism and a reduced incidence of cGVHD without compromising relapse and survival.


Subject(s)
Bone Marrow Transplantation , Bone Marrow/immunology , Hematologic Neoplasms/immunology , Hematologic Neoplasms/therapy , Stem Cell Transplantation , Transplantation Conditioning , Transplantation, Homologous , Adolescent , Adult , Aged , Female , Graft vs Host Disease , Humans , Male , Melphalan/administration & dosage , Middle Aged , Recurrence , Retrospective Studies , Treatment Outcome , Vidarabine/administration & dosage , Vidarabine/analogs & derivatives , Young Adult
14.
Prenat Diagn ; 34(9): 839-42, 2014 Sep.
Article in English | MEDLINE | ID: mdl-24706336

ABSTRACT

OBJECTIVE: Prenatal diagnosis of esophageal atresia (EA) remains a challenge. Our objective was to evaluate the combination of sonography, magnetic resonance imaging (MRI), and amniotic fluid biochemical markers in prenatal diagnosis of EA. STUDY DESIGN: A retrospective study of all cases with prenatal suspicion of EA from January 2008 to May 2013 in our regional reference center was carried out. Patients were included if all the three tests were performed. For each test, sensitivity (Se), specificity (Sp), positive predictive value (PPV), and negative predictive value (NPV) were evaluated. Each test was compared using Fisher's exact test. RESULTS: Fifteen patients were referred at a median gestational age of 28(+5) weeks (24-36) for suspicion of EA on the basis of small or non-visualized fetal stomach bubble and/or polyhydramnios. Se, Sp, PPV, and NPV for sonographic pouch sign/MRI/biochemical amniotic fluid were respectively 40/100/100/45.5%, 80/100/100/71.4%, and 90/60/81.8/75%. MRI was the best predictive test (p = 0.007). CONCLUSION: In case of ultrasound prenatal suspicion of EA (with or without visualization of the pouch sign), an MRI at 30-32 weeks using fast imaging employing steady-state acquisition should be proposed. Biochemical amniotic fluid may be helpful and should be evaluated in a larger study.


Subject(s)
Amniocentesis , Amniotic Fluid/metabolism , Esophageal Atresia/diagnosis , Magnetic Resonance Imaging , Ultrasonography, Prenatal , Biomarkers/metabolism , Esophageal Atresia/metabolism , Female , Humans , Predictive Value of Tests , Pregnancy , Pregnancy Trimester, Second , Pregnancy Trimester, Third , Retrospective Studies , Sensitivity and Specificity
15.
Allergy ; 69(6): 784-90, 2014 Jun.
Article in English | MEDLINE | ID: mdl-24725204

ABSTRACT

BACKGROUND: Guidelines recommend regular assessment of asthma control. The Childhood Asthma Control Test (C-ACT) is a clinically validated tool. AIM: To evaluate asthma control according to GINA2006, NAEPP, pediatrician's assessment (PA), and C-ACT in asthmatic children visiting their ambulatory pediatrician or tertiary care pediatric pulmonologist. METHODS: Demographic data, treatment, and number of severe exacerbations during the previous year were collected. Control was assessed using (i) strict GINA 2006 criteria, (ii) GINA without taking into account the exacerbation item, (iii) NAEPP criteria, and (iv) PA. Children and parents filled out the C-ACT. RESULTS: Five hundred and twenty-five children completed the survey (mean age: 7.7 years; 28% ≤ 6 years). 78% had a controller treatment. 58% reported ≥ 1 severe exacerbation. C-ACT was ≤ 19 in 29.5%. Control was not achieved in 76.5%, 55%, 40%, and 34% according to GINA 2006 guidelines, NAEPP guidelines, GINA 2006 without exacerbation criteria, and PA, respectively. C-ACT was significantly lower in children ≤ 6 years old (P = 0.002) or with severe exacerbations (P < 0.0001). According to PA, 89% of patients with a C-ACT > 21 were controlled and 85% of patients with a C-ACT < 17 not controlled. CONCLUSION: We observed discrepancies between the different tools applied to assess asthma control in children, and the impact of age and exacerbations. Cutoff point of 19 of C-ACT was not associated with the best performance compared to PA. Assessment of control should take into account symptoms and lung function as suggested by the latest GINA guidelines as well as exacerbation over a long period.


Subject(s)
Asthma/prevention & control , Asthma/therapy , Age Factors , Asthma/diagnosis , Child , Child, Preschool , Disease Progression , Female , France , Humans , Male , Outcome Assessment, Health Care , Pediatrics , Practice Guidelines as Topic , Prospective Studies , Severity of Illness Index , Surveys and Questionnaires
16.
J Prev Alzheimers Dis ; 1(2): 74-79, 2014 Sep.
Article in English | MEDLINE | ID: mdl-26491650

ABSTRACT

BACKGROUND: The Arizona Alzheimer's Consortium (AAC) created the Arizona Alzheimer's Registry, a screening and referral process for people interested in participating in Alzheimer's disease related research. The goals of the Registry were to increase awareness of Alzheimer's disease research and accelerate enrollment into AAC research studies. METHODS: Participation was by open invitation to adults 18 and older. Those interested provided consent and completed a written questionnaire. A subset of Registrants underwent an initial telephone cognitive assessment. Referral to AAC sites was based on medical history, telephone cognitive assessment, and research interests. RESULTS: A total of 1257 people consented and 1182 underwent an initial cognitive screening. Earned media (38.7%) was the most effective recruitment strategy. Participants had a mean age of 68.1 (SD 10.6), 97% were Caucasian, had 15.2 (SD 2.7) mean years of education, and 60% were female. 30% reported a family history of dementia and 70% normal cognition. Inter-rater agreement between self-reported memory status and the initial telephone cognitive assessment had a kappa of 0.31-0.43. 301 were referred to AAC sites. CONCLUSION: IThe Registry created an infrastructure and process to screen and refer a high volume of eager Registrants. These methods were found to be effective at prescreening individuals for studies, which facilitated AAC research recruitment. The established infrastructure and experiences gained from the Registry have served as the prototype for the web-based Alzheimer's Prevention Registry, a national registry focusing on Alzheimer's disease prevention research.

17.
Encephale ; 39(5): 320-5, 2013 Oct.
Article in French | MEDLINE | ID: mdl-23541231

ABSTRACT

INTRODUCTION: Executive function impairments and high level of impulsivity may constitute heritable endophenotypes that confer predisposition for alcohol dependence. Brain volume abnormalities have also been reported in young, alcohol-naïve subjects at high risk (HR) for alcohol dependence, and linked to cognitive dysfunction. METHODS: This paper presents a literature review of magnetic resonance imaging (MRI) studies that examined brain volumes in adolescent/young adult HR offspring from families with multiple cases of alcohol dependence compared to low risk controls with no family history of alcohol or drug misuse. In some of these studies, executive functioning and externalizing symptoms were also assessed. RESULTS: In HR subjects, local white matter volume deficits were found in the corpus callosum and in the right orbito-frontal cortex, and lower fractional anisotropy in the left inferior longitudinal fasciculus and in the right optic radiation. Altered fronto-cerebellar connectivity has also been reported. Diminished gray matter volume of the cerebellar cortex was found in HR subjects, in the frontal, cyngulate and para-hippocampal gyri, and also in the amygdala, the thalamus and the cerebellum. These structural abnormalities have been associated with higher impulsivity level and executive function impairments, themselves markers of vulnerability to alcoholism. These premorbid cerebral abnormalities may increase the risk for developing an alcohol use disorder in HR subjects through atypical control processing. CONCLUSION: Brain abnormalities may potentially constitute an abnormal neural network that might underlie the risk towards alcohol dependence. These circuitry abnormalities might contribute to the reward deficiency, as well as impaired response inhibition that predict impulsive spectrum behavior, which are thought to represent the inherited vulnerability to alcohol dependence in HR individuals.


Subject(s)
Alcohol-Related Disorders/genetics , Alcohol-Related Disorders/pathology , Alcoholism/genetics , Alcoholism/pathology , Brain/pathology , Cognition Disorders/genetics , Cognition Disorders/pathology , Disruptive, Impulse Control, and Conduct Disorders/genetics , Disruptive, Impulse Control, and Conduct Disorders/pathology , Endophenotypes , Executive Function/physiology , Magnetic Resonance Imaging , Adolescent , Alcohol-Related Disorders/diagnosis , Alcohol-Related Disorders/psychology , Alcoholism/psychology , Cognition Disorders/diagnosis , Cognition Disorders/psychology , Disruptive, Impulse Control, and Conduct Disorders/diagnosis , Disruptive, Impulse Control, and Conduct Disorders/psychology , Genetic Predisposition to Disease/genetics , Humans , Internal-External Control , Organ Size/genetics , Organ Size/physiology , Reference Values , Young Adult
18.
Arch Pediatr ; 18(12): 1297-1301, 2011 Dec.
Article in French | MEDLINE | ID: mdl-21963371

ABSTRACT

Genetic syndromes that mimic congenital infections must be recognized because of the associated risk of recurrence. We describe a male infant who was born with the association of intra-uterine growth retardation, microcephaly, intracranial calcifications, white matter abnormalities, microphtalmy, bilateral cataract, and hearing loss. Congenital cytomegalovirus (CMV) infection was suspected, but serologic CMV markers were not decisive (IgG+/IgM-). His half-sister (same father) presented a similar phenotype. Therefore, the diagnosis of congenital CMV infection was questioned and a genetic hypothesis was suggested. In 1983, Baraitser et al. first described two brothers with microcephaly and intracranial calcifications and negative TORCH analysis. Later, a number of authors reported children in whom detailed investigation failed to objectively confirm an intra-uterine infective agent. Clinical features include severe postnatal microcephaly, seizures, and pronounced developmental arrest. These cases have been considered to define a distinct autosomal recessive disorder first named pseudo-Torch syndrome. The family described herein is different from the cases previously described with a suspected autosomal dominant inheritance, severe ophtalmological abnormalities, and unusual brain imaging.


Subject(s)
Abnormalities, Multiple/genetics , Autoimmune Diseases of the Nervous System/congenital , Abnormalities, Multiple/pathology , Adolescent , Autoimmune Diseases of the Nervous System/genetics , Brain/abnormalities , Calcinosis/genetics , Cataract/genetics , Child, Preschool , Diagnosis, Differential , Female , Hearing Loss/genetics , Humans , Male , Microcephaly/genetics , Nervous System Malformations/genetics , Risk Factors , Seizures/genetics , Siblings
19.
Ultramicroscopy ; 111(2): 149-54, 2011 Jan.
Article in English | MEDLINE | ID: mdl-21185459

ABSTRACT

This paper reports the coupling of HRTEM and moiré pattern observations, allowing the determination of the thickness ratio of two superimposed crystals. Pseudo-lattice fringes are observed using identical TEM experimental conditions as for observing moiré patterns. The pseudo-lattice spacing is first calculated in the dynamical theory framework in two beam conditions. This approach shows a linear behavior of the spacing as a function of the thickness ratio of the two crystals. The roles of sample crystallographic orientation and sample thickness on the thickness ratio determination are discussed from multi-beam simulations. Finally, the method is applied on a bimetallic CuAg core-shell nanoparticle of a known structure. It is demonstrated that for this particle, the thickness ratio of Cu and Ag can be determined with an error that results in a precision less than 0.75 nm on the Cu and Ag thicknesses. The advantages of the technique are the use of an in-plane sample configuration and a single HRTEM image.


Subject(s)
Microscopy, Electron, Transmission/methods , Moire Topography/methods , Nanoparticles/analysis , Crystallography , Image Processing, Computer-Assisted
20.
Arch Pediatr ; 17(3): 325-32, 2010 Mar.
Article in French | MEDLINE | ID: mdl-20045298

ABSTRACT

Acute motor deficit is not uncommon in childhood, with various neurological etiologies. Pertinent semiological analysis allows correct diagnosis management, with adequate paraclinical investigations. The authors describe this clinical diagnosis strategy. The most common clinical situations and various etiologies are presented; paraclinical investigations confirming the diagnosis are discribed, with specific attention to central nervous system imaging according to the most recent sequences.


Subject(s)
Movement Disorders/etiology , Neuromuscular Diseases/etiology , Acute Disease , Brain Diseases/diagnosis , Brain Diseases/therapy , Brain Ischemia/diagnosis , Brain Ischemia/therapy , Cerebrovascular Disorders/diagnosis , Cerebrovascular Disorders/therapy , Child , Diagnosis, Differential , Humans , Movement Disorders/diagnosis , Movement Disorders/therapy , Myositis/diagnosis , Myositis/therapy , Neuromuscular Diseases/diagnosis , Neuromuscular Diseases/therapy , Peripheral Nervous System Diseases/diagnosis , Peripheral Nervous System Diseases/therapy , Polyradiculoneuropathy/diagnosis , Polyradiculoneuropathy/therapy , Thrombosis/diagnosis , Thrombosis/therapy
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