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2.
J Gynecol Obstet Hum Reprod ; 51(2): 102284, 2022 Feb.
Article in English | MEDLINE | ID: mdl-34906693

ABSTRACT

INTRODUCTION: The "en caul" technique, i.e. delivery with intact membranes, may reduce the risk of obstetric trauma in vaginal breech delivery of extreme preterm infants. We aimed at comparing perinatal mortality and morbidity among extremely preterm breech vaginal deliveries between infants delivered "en caul" and those with "ruptured membranes". MATERIAL AND METHODS: We performed a fourteen-year retrospective study in a tertiary university center. All vaginal deliveries of singleton breech live infants with an antenatal decision of active resuscitation between 24 weeks and 27+6 weeks were included. Perinatal outcomes were compared between the "en caul" group, with intact membranes at the onset of pushing efforts and the "ruptured membranes" group, with ruptured membranes at the onset of pushing efforts. The primary outcome was perinatal mortality defined by intrapartum or neonatal death. The secondary outcomes were fetal extraction difficulties, arterial pH and 5 min Apgar score. RESULTS: We included 52 infants in the "en caul" group and 71 in the "ruptured membranes" group. The perinatal mortality rate did not differ between the two groups (19.2% in the "en caul" group versus 28.2% in the "ruptured membranes" group, p = 0.25). The mean arterial pH at birth was higher in the « en caul ¼ group (7.32 ± 0.1 vs 7.24 ± 0.1, p = 0.001). There were no differences between the groups for fetal extraction difficulties, especially fetal head entrapment (9.6% versus 9.9%). CONCLUSION: Even though the "en caul" technique does not seem to decrease the perinatal mortality rate, it remains a simple technique, which could improve neonatal morbidity.


Subject(s)
Breech Presentation , Delivery, Obstetric/methods , Infant, Extremely Premature , Adult , Female , Humans , Infant, Newborn , Perinatal Death , Pregnancy , Pregnancy Outcome , Retrospective Studies
3.
Clin Microbiol Infect ; 26(1): 115-121, 2020 Jan.
Article in English | MEDLINE | ID: mdl-31158521

ABSTRACT

OBJECTIVES: Malaria is one of most common tropical diseases encountered in travellers and migrants. It requires an urgent and reliable diagnosis considering its potential severity. In this study, performance of five diagnostic assays were evaluated in a nonendemic region and compared prospectively to quantitative PCR (qPCR). METHODS: A prospective study was conducted at Toulouse Hospital from August 2017 to January 2018 and included all patients with initial Plasmodium screening. Thin and thick blood smears (TnS, TkS), quantitative buffy coat (QBC), rapid diagnostic tests (RDTs) and commercial loop-mediated isothermal amplification (LAMP) were independently performed on each blood sample and compared to our qPCR reference standard. RESULTS: The study encompassed 331 patients, mainly returning from Africa. qPCR detected 73 Plasmodium-positive samples (including 58 falciparum). Individually, LAMP had a 97.3% (71/73) sensitivity, far ahead of TnS (84.9%, 62/73), TkS (86.3%, 63/73), QBC (86.3%, 63/73) and RDT (86.3%, 63/73). RDT demonstrated a high sensitivity for falciparum (98.3%, 57/58) but missed all ovale, malariae and knowlesi infections. Specificity was excellent for all techniques (99.6-100%). The most sensitive diagnosis strategies were TnS + RDT (95.9%, 70/73), TnS + LAMP (97.3%, 71/73) and TnS + RDT + LAMP (100%, 73/73), about 10% higher than strategies using exclusively microscopy, TkS + TnS (87.7%, 64/73) or QBC + TnS (87.7%, 64/73). TnS remains necessary for Plasmodium species identification and quantification. Adding sequentially TnS only on LAMP-positive samples did not decrease TnS + LAMP strategy sensitivity. CONCLUSIONS: In nonendemic countries, the currently recommended microscopy-based strategies seem unsatisfactory for malaria diagnosis considering RDT and LAMP performance, two rapid and sensitive assays that require limited training.


Subject(s)
Communicable Diseases, Imported/diagnosis , Malaria/diagnosis , Microscopy/standards , Molecular Diagnostic Techniques/standards , Nucleic Acid Amplification Techniques/standards , Africa , Communicable Diseases, Imported/parasitology , France , Humans , Malaria/parasitology , Microscopy/methods , Molecular Diagnostic Techniques/methods , Nucleic Acid Amplification Techniques/methods , Plasmodium , Prospective Studies , Real-Time Polymerase Chain Reaction/standards , Sensitivity and Specificity , Temperature
4.
Brain Behav Immun ; 73: 403-415, 2018 10.
Article in English | MEDLINE | ID: mdl-29860025

ABSTRACT

Neonatal period is characterized by an immature intestinal barrier. Scattered evidence suggests that early life stressful events induce long lasting alterations of intestinal homeostasis mimicking Irritable Bowel Syndrome (IBS). Those observations highlighting defect of intestinal barrier by early life stress questioned its potential role as a risk factor for gastrointestinal disorders such as colitis and infections. In this study, we aimed to analyze if maternal separation (MS) in mice mimicks IBS main features. We next addressed whether MS could trigger or exacerbate colitis in genetically predisposed mice and/or enhance susceptibility to gastrointestinal infections in wild type mice. MS induced main features of IBS in adult wild type male mice i.e. intestinal hyperpermeability, visceral hypersensitivity, microbiota dysbiosis, bile acid malabsorption and low grade inflammation in intestine associated with a defect of Paneth cells and the ILC3 population. This breach in mucosal barrier functions in adults was associated with a systemic IgG response against commensal E. coli and increased IFNγ secretion by splenocytes. However, in IL10-/- mice, MS did not trigger nor worsen colitis. Furthermore, wild type mice submitted to MS did not show increase susceptibility to gastrointestinal infections (S. Typhimurium, L. monocytogenes or T. gondii) compared to controls. Altogether, our results identify MS in mice as a good experimental model for IBS mimicking all the main features. In addition, early life stress, even though it has long lasting consequences on intestinal homeostasis, does not constitute a facilitating factor to colitis in predisposed individuals nor to gastrointestinal infections in wild type mice.


Subject(s)
Irritable Bowel Syndrome/metabolism , Stress, Psychological/metabolism , Animals , Colitis/etiology , Colitis/pathology , Disease Models, Animal , Dysbiosis , Escherichia coli/pathogenicity , Gastrointestinal Diseases/microbiology , Gastrointestinal Diseases/physiopathology , Gastrointestinal Microbiome/physiology , Genetic Predisposition to Disease/genetics , Inflammation , Intestinal Mucosa/microbiology , Intestinal Mucosa/physiology , Intestines/microbiology , Intestines/physiology , Irritable Bowel Syndrome/physiopathology , Male , Maternal Deprivation , Mice , Mice, Inbred C3H , Mice, Inbred C57BL , Microbiota/physiology , Stress, Psychological/physiopathology
5.
J Radiol Prot ; 38(2): 471-479, 2018 06.
Article in English | MEDLINE | ID: mdl-29424360

ABSTRACT

The transmission factors used to calculate radiation shielding around an industrial x-ray device are determined using the MCNP6 code. The transmission factors are given for high voltages ranging between 120 and 800 kV for lead and between 200 and 800 kV for concrete. In view of the high usage intensity of industrial devices, the transmission factors are evaluated up to 1.10-10. The parameters used in the classic equation of Archer et al are derived from the transmission data calculated here. This type of data exists in the literature, but only for voltages lower than 150 kV to meet the design demands for facilities used in the medical field. In addition, this study markedly supplements the existing data, in particular for industrial and research installations.


Subject(s)
Manufacturing and Industrial Facilities , Radiation Dosage , Radiation Protection , X-Rays , Mathematical Computing , Radiation Protection/statistics & numerical data
6.
Arch Pediatr ; 24(12): 1287-1292, 2017 Dec.
Article in French | MEDLINE | ID: mdl-29169715

ABSTRACT

Decisions regarding whether to initiate or forgo intensive care for extremely premature infants are often based on gestational age alone. However, other factors also affect the prognosis for these patients and must be taken into account. After a short review of these factors, we present the thoughts and proposals of the Risks and Pregnancy department. The proposals are to limit emergency decisions, to better take into account other factors than gestational age and prenatal predicted fetal weight in assessing the prognosis, to introduce multidisciplinary consultation in the evaluation and proposals that will be discussed with the parents, and to separate prenatal steroid therapy from decision-making regarding whether or not to administer intensive care.


Subject(s)
Perinatal Care , Algorithms , Female , Humans , Infant, Extremely Premature , Infant, Newborn , Pregnancy , Risk Factors
7.
Gynecol Obstet Fertil Senol ; 45(2): 70-76, 2017 Feb.
Article in French | MEDLINE | ID: mdl-28368798

ABSTRACT

OBJECTIVES: Identify the factors associated with caesarean delivery for unengaged fetal head beyond 3hours of passive second stage of labor, among primiparous patients. METHODS: A case-control study conducted in level III universitary center between October 2012 and September 2015. Only primiparous at term, with a singleton, cephalic fetus and a passive second stage of labor prolonged over 3hours before pushing were included. During the second stage of labor, patients who had caesarean for abnormal fetal heart rate were excluded. Risk factors of cesarean were analyzed with univariate analysis and after statistical adjustment using multivariate logistic regression. RESULTS: The mean passive second stage duration was significantly longer among patients who had a caesarean (3h37±21min vs 3h13±19min [P=0,0001]). After multivariate logistic regression, factors associated with a risk of caesarean were body mass index higher than 30kg/m2 (OR=25.9 [3.1-215.9]). fetal macrosomia suspected by 3rd trimester ultrasound (OR=4.4 [1.2-16.4]), induction by prostaglandins (OR=5.7 [2.1-15.5]), a stagnation of cervical dilatation during the 1st stage (OR=[1.3-6.8]), and fetal occiput posterior position beyond 3hours (OR=30.7 [3.3-280.9]). CONCLUSIONS: Risk of caesarean delivery for unengaged fetal head beyond 3hours of passive second stage of labor is associated with maternal, fetal and obstetrical factors. Those factors might be taken into account before accept or not a 3rd hour at full cervical dilation.


Subject(s)
Cesarean Section/adverse effects , Labor Stage, Second , Obstetric Labor Complications , Adult , Body Mass Index , Case-Control Studies , Female , Fetal Macrosomia/complications , Fetal Macrosomia/diagnostic imaging , Humans , Labor Stage, First , Labor, Induced/adverse effects , Logistic Models , Parity , Pregnancy , Risk Factors , Time Factors , Ultrasonography, Prenatal
8.
Radiat Prot Dosimetry ; 176(4): 365-379, 2017 Nov 01.
Article in English | MEDLINE | ID: mdl-28338860

ABSTRACT

Values of the new protection quantity 'Local Skin Dose' LSD, introduced by the International Commission on Radiological Protection (ICRP) Publication 116, were calculated for 134 ß- or ß+ emitting radionuclides, using the Monte Carlo code MCNP6. Two types of source geometry are considered: a point source and disc-type surface contamination (the source is placed in contact with the skin). This new protection quantity is compared with the operational quantity H'(0.07,0°), leading us to conclude that, in accordance with the rules of the ICRP, the operational quantity over-estimates the protection quantity to a reasonable extent, except in very rare cases for very low average beta energies. Thus, with the new skin model described in ICRP 116, there are no longer any major differences between the operational quantities and protection quantities estimated with the skin model described in ICRP 74.


Subject(s)
Radiation Dosage , Skin/radiation effects , Algorithms , Beta Particles , Humans , International Agencies , Models, Anatomic , Monte Carlo Method , Radiation Protection
9.
J Gynecol Obstet Biol Reprod (Paris) ; 45(8): 900-907, 2016 Oct.
Article in French | MEDLINE | ID: mdl-26780843

ABSTRACT

OBJECTIVES: To determine prevalence of short-term postpartum anal incontinence after obstetrical anal sphincter injury and prognostic factors. MATERIALS AND METHODS: Retrospective study including every patient with an obstetrical anal sphincter injury between January 2006 and December 2012 in one tertiary maternity unit. Patients were interviewed and examined at 2-month postpartum. Anal incontinence was defined by the presence of at least one of the following symptoms: flatus incontinence, faecal incontinence and faecal urgency. RESULTS: Among 17,110 patients who delivered vaginally during period study, 134 (0.8%) presented an anal sphincter injury. Postpartum obstetrical data were available for 110 of them. Among those patients, 50 women (45.5%) had at least one symptom of anal incontinence at 2-month postpartum and 8 (7.3%) had faecal incontinence. Only maternal age and second stage duration were significantly associated with anal incontinence after obstetrical anal sphincter injury. The degree of sphincter damage at delivery (IIIa, b, c, IV) was not associated with the risk of anal incontinence at 2-month postpartum. CONCLUSION: Maternal age and second stage duration were the only risk factor for anal incontinence after obstetrical anal sphincter injury in this study. High prevalence of anal incontinence at 2-month postpartum of obstetrical anal sphincter injury is observed no matter what is the degree of anal sphincter damage. Our results highlight the importance to diagnose all obstetrical anal sphincter injuries whatever the degree of damage.


Subject(s)
Anal Canal/injuries , Fecal Incontinence/epidemiology , Labor Stage, Second , Maternal Age , Obstetric Labor Complications/epidemiology , Perineum/injuries , Puerperal Disorders/epidemiology , Adult , Fecal Incontinence/etiology , Female , France/epidemiology , Humans , Pregnancy , Prognosis , Puerperal Disorders/etiology , Retrospective Studies
10.
Am J Transplant ; 15(1): 190-9, 2015 Jan.
Article in English | MEDLINE | ID: mdl-25496195

ABSTRACT

Pneumocystis pneumonia (PCP) in solid organ transplant (SOT) recipients becomes rare in the immediate posttransplantation period thanks to generalized prophylaxis. We aimed to identify the predictive factors for PCP in the era of universal prophylaxis and to propose a strategy for preventing PCP beyond the first year after transplantation. In a retrospective case-control study, 33 SOT cases with PCP diagnosed between 2004 and 2010 were matched with two controls each to identify risk factors for PCP by uni- and multivariate analysis. All the patients benefited from 6 months of posttransplantation trimethoprim-sulfamethoxazole prophylaxis. Most PCP in SOT patients occurred during the second year posttransplantation (33%). By univariate analysis, age, nonuse of tacrolimus, total and CD4 lymphocyte counts, gamma-globulin concentration and cytomegalovirus (CMV) infection appeared to be PCP risk factors. In the final multivariate analysis, age (adjusted odds ratio [OR] 3.7, 95% confidence interval [CI]: 1.3-10.4), CMV infection (OR: 5.2, 95% CI: 1.8-14.7) and total lymphocyte count (OR: 3.9, 95% CI: 1.4-10.7) were found to be independently associated with PCP. The second year posttransplantation appeared to be the new period of highest risk of PCP. Age, CMV viremia and lymphocytes were the most pertinent predictive criteria to evaluate the risk of PCP in clinical practice.


Subject(s)
Antibiotic Prophylaxis , Antifungal Agents/therapeutic use , Graft Rejection/etiology , Organ Transplantation , Pneumonia, Pneumocystis/etiology , Transplant Recipients , Trimethoprim, Sulfamethoxazole Drug Combination/therapeutic use , Case-Control Studies , Cytomegalovirus/pathogenicity , Cytomegalovirus Infections/complications , Cytomegalovirus Infections/microbiology , Female , Follow-Up Studies , Graft Rejection/diagnosis , Graft Rejection/drug therapy , Graft Survival , Humans , Immunocompromised Host , Male , Middle Aged , Pneumocystis carinii , Pneumonia, Pneumocystis/diagnosis , Pneumonia, Pneumocystis/drug therapy , Postoperative Complications , Retrospective Studies , Risk Factors , Tissue Donors
12.
J Gynecol Obstet Biol Reprod (Paris) ; 43(6): 413-23, 2014 Jun.
Article in French | MEDLINE | ID: mdl-24485806

ABSTRACT

This systematic review of the literature reports studies published over the last five years (2008-2013) about interventions during labor and normal delivery. The points made concerning active management of labor, interventions aimed at improving maternal comfort, management of occiput posterior fetal presentations, management of second stage of labor and prevention techniques for perineal lesions. Although obstetrics remains an "art" to which training is mainly based on experience and clinical expertise, this "art" at present cannot live without the evidence-based medicine. Numerous randomized trials published and in process, demonstrate awareness of this reality in our specialty.


Subject(s)
Delivery, Obstetric/methods , Labor, Obstetric , Adult , Delivery, Obstetric/trends , Female , Humans , Pregnancy
13.
Clin Microbiol Infect ; 20(8): O528-30, 2014 Aug.
Article in English | MEDLINE | ID: mdl-24279601

ABSTRACT

Cutaneous leishmaniasis is one of the most frequent skin diseases occurring after travelling in endemic areas. Optimal management requires identification of the species of Leishmania involved. In this study we aimed to evaluate the use of molecular diagnosis as routine, in comparison with direct examination and culture. Thirty positive diagnoses were carried out between 2007 and 2013. Classical PCR enabled 11 positive cases to be identified that were found to be negative by conventional methods. Sequencing led to the identification of eight different species. Routine use of PCR and sequencing appears very efficient in the management of cutaneous leishmaniasis.


Subject(s)
Leishmania/isolation & purification , Leishmaniasis, Cutaneous/diagnosis , Molecular Diagnostic Techniques/methods , Travel , Adolescent , Adult , Aged , Aged, 80 and over , Child , Child, Preschool , Female , Humans , Leishmania/classification , Leishmania/genetics , Male , Middle Aged , Polymerase Chain Reaction/methods , Sensitivity and Specificity , Sequence Analysis, DNA/methods , Young Adult
14.
Breast Cancer Res Treat ; 141(1): 101-10, 2013 Aug.
Article in English | MEDLINE | ID: mdl-23942848

ABSTRACT

Clinical trials have shown the efficacy of trastuzumab-based adjuvant therapy in HER2-positive breast cancers, but routine clinical use awaits evaluation of compliance, safety, and effectiveness. Adjuvant trastuzumab-based therapy in routine clinical use was evaluated in the retrospective study GHEA, recording 1,002 patients treated according to the HERA protocol between March 2005 and December 2009 in 42 Italian oncology departments; 874 (87.23 %) patients completed 1-year trastuzumab treatment. In 128 patients (12.77 %), trastuzumab was withdrawn due to cardiac or non-cardiac toxicity (28 and 29 patients, respectively), disease progression (5 patients) or the clinician's decision (66 patients). In addition, 156 patients experienced minor non-cardiac toxicities; 10 and 44 patients showed CHF and decreased LVEF, respectively, at the end of treatment. Compliance and safety of adjuvant trastuzumab-based therapy in Italian hospitals were high and close to those reported in the HERA trial. With a median follow-up of 32 months, 107 breast cancer relapses were recorded (overall frequency, 10.67 %), and lymph node involvement, estrogen receptor negativity, lymphoid infiltration, and vascular invasion were identified as independent prognostic factors for tumor recurrence, indicating that relapses were associated with advanced tumor stage. Analysis of site and frequency of distant metastases showed that bone metastases were significantly more frequent during or immediately after trastuzumab (<18 months from the start of treatment) compared to recurrences in bone after the end of treatment and wash-out of the drug (>18 months from the start of treatment) (35.89 vs. 14.28 %, p = 0.0240); no significant differences were observed in recurrences in the other recorded body sites, raising the possibility that the protection exerted by trastuzumab is lower in bone metastases.


Subject(s)
Antibodies, Monoclonal, Humanized/therapeutic use , Antineoplastic Agents/therapeutic use , Breast Neoplasms/drug therapy , Carcinoma/drug therapy , Chemotherapy, Adjuvant , Adult , Antibodies, Monoclonal, Humanized/adverse effects , Antineoplastic Agents/adverse effects , Antineoplastic Combined Chemotherapy Protocols/therapeutic use , Biomarkers, Tumor , Breast Neoplasms/chemistry , Breast Neoplasms/pathology , Carcinoma/chemistry , Carcinoma/secondary , Combined Modality Therapy , Disease-Free Survival , Female , Follow-Up Studies , Genes, erbB-2 , Heart Diseases/drug therapy , Humans , Italy , Medication Adherence , Middle Aged , Neoadjuvant Therapy , Neoplasm Invasiveness , Neoplasm Metastasis , Neoplasm Proteins/analysis , Neoplasm Staging , Prognosis , Receptor, ErbB-2/analysis , Retrospective Studies , Risk Factors , Trastuzumab
15.
J Med Primatol ; 39(5): 315-7, 2010 Oct.
Article in English | MEDLINE | ID: mdl-20444002

ABSTRACT

BACKGROUND: A 9-year-old, male castrate, Rhesus macaque was euthanized following a prolonged history of chronic renal failure. RESULTS: Necropsy revealed a proliferative lesion within the right cardiac auricle composed of neoplastic epithelioid cells which infiltrated the myocardium and frequently exhibited intracytoplasmic luminae. Cells multifocally exhibited strong cytoplasmic immunoreactivity for Factor VIII-related protein (von Willebrand's factor). CONCLUSIONS: The histological characteristics of this tumor are consistent with a diagnosis of epithelioid hemangioendothelioma, an intermediate-grade vasoformative neoplasm which has to our knowledge not previously been reported in the heart of a non-human species.


Subject(s)
Heart Neoplasms/veterinary , Hemangioendothelioma, Epithelioid/veterinary , Macaca mulatta , Monkey Diseases/pathology , Animals , Heart Atria/pathology , Heart Neoplasms/pathology , Hemangioendothelioma, Epithelioid/pathology , Male
16.
Mucosal Immunol ; 3(3): 247-59, 2010 May.
Article in English | MEDLINE | ID: mdl-20404811

ABSTRACT

The intestinal epithelium, the largest interface between the host and environment, regulates fluxes of ions and nutrients and limits host contact with the massive load of luminal antigens. Local protective and tolerogenic immune responses toward luminal content depend on antigen sampling by the gut epithelial layer. Whether, and how exaggerated, the entrance of antigenic macromolecules across the gut epithelium might initiate and/or perpetuate chronic inflammation as well as the respective contribution of paracellular and transcellular permeability remains a matter of debate. To this extent, experimental studies involving the in vivo assessment of intestinal permeability using small inert molecules do not necessarily correlate with the uptake of larger dietary antigens. This review analyzes both the structural and functional aspects of intestinal permeability with special emphasis on antigen handling in healthy and diseased states and consequences on local immune responses to food antigens.


Subject(s)
Antigens/immunology , Food , Intestinal Mucosa/immunology , Animals , Antigens/metabolism , Humans , Immune Tolerance/immunology , Inflammation/immunology , Inflammation/metabolism , Intestinal Diseases/immunology , Intestinal Diseases/metabolism , Intestinal Diseases/pathology , Intestinal Mucosa/metabolism , Intestinal Mucosa/pathology , Permeability
17.
Ann Oncol ; 20(11): 1771-85, 2009 Nov.
Article in English | MEDLINE | ID: mdl-19608616

ABSTRACT

BACKGROUND: Treatment options for patients with metastatic breast cancer (MBC) include a rapidly expanding repertoire of medical, surgical and supportive care measures. DESIGN: To provide timely and evidence-based recommendations for the diagnostic workup and treatment of patients with MBC, an international expert panel reviewed and discussed the evidence available from clinical trials regarding diagnostic, therapeutic and supportive measures with emphasis on their impact on the quality of life and overall survival of patients with MBC. RESULTS: Evidence-based recommendations for the diagnostic workup, endocrine therapy, chemotherapy, use of targeted therapies and bisphosphonates, surgical treatment and supportive care measures in the management of patients with MBC were formulated. CONCLUSIONS: The present consensus manuscript updates evidence-based recommendations for state-of-the-art treatment of MBC depending on disease-associated and biological variables.


Subject(s)
Antineoplastic Agents/therapeutic use , Breast Neoplasms/pathology , Breast Neoplasms/therapy , Clinical Trials as Topic , Evidence-Based Medicine , Female , Humans , Mastectomy , Meta-Analysis as Topic , Prognosis
18.
Genes Brain Behav ; 8(6): 631-7, 2009 Aug.
Article in English | MEDLINE | ID: mdl-19500157

ABSTRACT

The CHRNA6 and CHRNB3 genes have been associated with nicotine dependence and early subjective response to nicotine. Here we present evidence, using a nationally representative sample of adults, that this region is also associated with alcohol behaviors. Six SNPs (single nucleotide polymorphisms) spanning the CHRNB3/A6 genes were analyzed using the statistical genetics software FBAT-PC, which allows one to examine a collection of multiple phenotypes to generate a maximally heritable composite phenotype for each SNP. The six SNPs were tested using FBAT-PC including four alcohol phenotypes: average number of drinks, blackouts, total number of DSM-IV abuse and dependence symptoms endorsed, and quit attempts. Three SNPs in CHRNA6 (rs1072003, P = 0.015; rs892413, P = 0.0033 and rs2304297, P = 0.012) and one SNP in CHRNB3 (rs13280604, P = 0.0053) were associated with a composite of the alcohol phenotypes. The association was primarily driven by the average number of drinks.


Subject(s)
Alcohol Drinking/genetics , Genetic Predisposition to Disease/genetics , Polymorphism, Single Nucleotide/genetics , Receptors, Nicotinic/genetics , Adult , Alcohol Drinking/metabolism , Alcohol Drinking/psychology , Alcohol-Induced Disorders, Nervous System/genetics , Alcohol-Induced Disorders, Nervous System/metabolism , Alcohol-Induced Disorders, Nervous System/psychology , Brain Chemistry/drug effects , Brain Chemistry/genetics , Cohort Studies , Female , Genetic Predisposition to Disease/psychology , Humans , Male , Phenotype , Polymorphism, Single Nucleotide/drug effects , United States
19.
Dev Neurorehabil ; 12(3): 139-45, 2009 Jun.
Article in English | MEDLINE | ID: mdl-19466621

ABSTRACT

OBJECTIVE: To evaluate the association between the Pediatric Evaluation of Disability Inventory (PEDI) motor and self-care domains with the Peabody Developmental Motor Scales-second edition (PDMS-2) gross motor and fine motor sub-scales. METHODS: Forty children (35-62 months) with primary language impairment (PLI) were recruited. The PEDI was completed at admission and the PDMS-2 was administered within 1 month by an OT, who was unaware of the PEDI results. RESULTS: Correlation between PEDI mobility and PDMS-2 gross motor domains was r = 0.23 (p = 0.15) and between PEDI self-care and PDMS-2 fine motor domains was r = 0.12 (p = 0.47). Associations between PEDI and PDMS-2 scores for age, gender and severity of language impairment sub-groups were poor-to-moderate. CONCLUSION: Findings indicate the PEDI is not sufficiently accurate to screen for motor deficits in children with PLI. More sensitive measures of motor performance are needed to detect subtle motor deficits in children with PLI.


Subject(s)
Developmental Disabilities/diagnosis , Disability Evaluation , Disabled Children , Language Disorders/physiopathology , Mass Screening/methods , Motor Skills , Age Factors , Child, Preschool , Developmental Disabilities/physiopathology , Female , Humans , Male , Severity of Illness Index , Sex Factors
20.
Ann Oncol ; 19(10): 1706-12, 2008 Oct.
Article in English | MEDLINE | ID: mdl-18544559

ABSTRACT

BACKGROUND: The standardization of the HER2 score and recent changes in therapeutic modalities points to the need for a reevaluation of the role of HER2 in recently diagnosed breast carcinoma. PATIENTS AND METHODS: A multicenter, retrospective study of 1794 primary breast carcinomas diagnosed in Italy in 2000/2001 and scored in HER2 four categories according to immunohistochemistry was conducted. RESULTS: Ductal histotype, vascular invasion, grade, MIB1 positivity, estrogen and progesterone receptor expression differed significantly in HER2 3+ tumors compared with the other categories. HER2 2+ tumors almost showed values intermediate between those of the negative and the 3+ subgroups. The characteristics of HER2 1+ tumors were found to be in between those of HER2 0 and 2+ tumors. With a median follow-up of 54 months, HER2 3+ status was associated with higher relapse rates in node-positive and node-negative subgroups, while HER2 2+ only in node positive. Analysis of relapses according to type of therapy provided evidence of responsiveness of HER2-positive tumors to chemotherapy, especially taxanes. CONCLUSIONS: The present prognostic significance of HER2 is correlated to receptor expression level and points to the need to consider HER2 2+ and HER2 3+ tumors as distinct diseases with different outcomes and specific features.


Subject(s)
Breast Neoplasms/enzymology , Breast Neoplasms/therapy , Receptor, ErbB-2/biosynthesis , Antineoplastic Agents, Hormonal/therapeutic use , Antineoplastic Combined Chemotherapy Protocols/therapeutic use , Breast Neoplasms/pathology , Combined Modality Therapy , Disease-Free Survival , Female , Humans , Immunohistochemistry , Mastectomy , Middle Aged , Retrospective Studies
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