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1.
Nerea Matamala Beatriz Lara Gema Gómez-Mariano Selene Martínez Irene Vázquez-Domínguez Álvaro Otero-Sobrino Antonio Muñoz-Callejas Elena Sánchez Cristina Esquinas Ana Bustamante Sergio Cadenas Sergio Curi Lourdes Lázaro María Teresa Martínez Esther Rodríguez Marc Miravitlles María Torres-Duran Inés Herrero Beatriz Martínez-Delgado 《Archivos de bronconeumologia》2021,57(7):457-463
IntroductionAlpha-1 antitrypsin deficiency (AATD) is a genetic condition resulting in lung and liver disease with a great clinical variability. MicroRNAs have been identified as disease modifiers; therefore miRNA deregulation could play an important role in disease heterogeneity. Members of miR-320 family are involved in regulating of multiple processes including inflammation, and have potential specific binding sites in the 3′UTR region of SERPINA1 gene. In this study we explore the involvement of miR-320c, a member of this family, in this disease.MethodsFirstly in vitro studies were carried out to demonstrate regulation of SERPINA1 gene by miR-320. Furthermore, the expression of miR-320c was analyzed in the blood of 98 individuals with different AAT serum levels by using quantitative PCR and expression was correlated to clinical parameters of the patients. Finally, HL60 cells were used to analyze induction of miR-320c in inflammatory conditions.ResultsOverexpression of miR-320 members in human HepG2 cells led to inhibition of SERPINA1 expression. Analysis of miR-320c expression in patient's samples revealed significantly increased expression of miR-320c in individuals with pulmonary disease. Additionally, HL60 cells treated with the pro-inflammatory factor lipopolysaccharide (LPS) showed increase in miR-320c expression, suggesting that miR-320c responds to inflammation.ConclusionOur findings demonstrate that miR-320c inhibits SERPINA1 expression in a hepatic cell line and its levels in blood are associated with lung disease in a cohort of patients with different AAT serum levels. These results suggest that miR-320c can play a role in AAT regulation and could be a biomarker of inflammatory processes in pulmonary diseases. 相似文献
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《Annales d'endocrinologie》2021,82(6):590-596
BackgroundGrowth hormone (GH) is known to be involved in ovarian folliculogenesis and oocyte maturation. In patients with poor ovarian response without growth hormone deficiency (GHD), adjuvant GH treatment improves in-vitro fertilization (IVF) results. Improvement of oocyte quality in IVF by GH replacement was reported in only a few patients with GHD. We report on a new case with study of follicular fluid.MethodsA 29-year-old patient with hypopituitarism was referred to our infertility center. She was undergoing hormonal replacement for hypogonadotropic hypogonadism and diabetes insipidus, and did not consider at first GH replacement. Four IVF procedures were performed between 2011 and 2014. Growth hormone replacement (somatotropin 1.1 mg/day) was initiated before the fourth IVF procedure and unmasked central hypothyroidism; levothyroxine (75 mg/day) was introduced. It took 10 months to reach the treatment objectives for insulin-like growth factor 1 (IGF1), free triiodothyronine (fT3) and free thyroxine (fT4). GH, IGF1 and thyroid hormones were measured in the blood and follicular fluid before and after GH and thyroid hormone replacement. Oocyte and embryo quality were also compared.ResultsThe first 3 IVF procedures were performed without GH replacement. 62% to 100% of mature oocytes presented one or more morphologic abnormalities: diffuse cytoplasmic granularity, large perivitelline space with fragments, fragmentation of the first polar body, ovoid shape, or difficult denudation. Embryo quality was moderate to poor (grade B to D), and no pregnancy was obtained after embryo transfer. After GH replacement, hormones levels increased in follicular fluid: GH [7.68 vs. 1.39 mIU/L], IGF1 [109 vs. < 25 ng/mL], fT3 [3.7 vs. 2.5 pmol/L] and fT4 [1.45 vs. 0.84 ng/mL]. Concomitantly, there was dramatic improvement in oocyte quality (no abnormal morphologies) and embryo quality (grade A), allowing an embryo transfer with successful pregnancy.ConclusionsThis is the first report illustrating changes in hormonal levels in follicular fluid and the beneficial effect of GH replacement on oocyte and embryo quality during an IVF procedure in a patient with hypopituitarism. These results suggest that GH replacement is beneficial for oocyte quality in patients with GHD. 相似文献
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M. Geneviève F. Bonnet C. Michaux C.-E. Geffroy M.-A. Vandenhende C. Combe P. Morlat 《La Revue de médecine interne / fondée ... par la Société nationale francaise de médecine interne》2012
We report a 24-year-old woman who presented with a nephrotic syndrome as the revealing manifestation of systemic lupus erythematosus (SLE) and an associated hypogammaglobulinemia related to a common variable immunodeficiency (CVID). Outcome of SLE was favourable with intravenous immunoglobulin treatment solely. Relationships between SLE and CVID are discussed. 相似文献
5.
A. Vélez-van-Meerbeke I.P. ZamoraG. Guzmán B. FigueroaC.A. López Cabra C. Talero-Gutiérrez 《Neurología (Barcelona, Spain)》2013
Objective
To identify impairment of executive functions (EF) in children with attention deficit hyperactivity disorder (ADHD).Subjects and methods
A case-control study was performed on a sample of schoolchildren with low socioeconomic levels in Bogota, Colombia. ADHD was diagnosed using the DSM IV checklist and the Behavior Assessment System for Children scale. Children with cognitive deficits were excluded. We evaluated scores from six measurements of executive function (EF). We conducted a bivariate statistical analysis to compare the variables, a multivariate study controlled by sex and age, and a logistic regression analysis.Results
The study sample included 119 children with ADHD and 85 controls, all aged between 6 and 12 years. Controlling by sex, age, and type of school showed that EF measurements in children with ADHD were significantly more impaired than in controls, especially for measurements of verbal and graphic fluency, Rey-Osterrieth Complex Figure, and cognitive flexibility. Comparison of ADHD subgroups showed that results in children with multiple deficits were similar to those in the global ADHD group. Graphic fluency impairment was the sole impairment in cases with only attention deficit or only hyperactivity-impulsivity manifestations.Conclusions
EF measures in children with ADHD revealed more problems, particularly those having to do within planning, inhibition, working memory and cognitive control. Age and sex may affect the degree of EF impairment. 相似文献6.
G. Martin-Blondel B. Camara J. Selves M.-A. Robic S. Thebault D. Bonnet L. Alric 《La Revue de médecine interne / fondée ... par la Société nationale francaise de médecine interne》2010
Purpose
To assess the etiologies and outcome of liver granulomatosis.Methods
We analyzed all consecutive liver granulomatosis diagnosed in our internal medicine department from 2000 to 2008.Results
Among 471 liver biopsies, 21 disclosed evidence of liver granulomatosis (4.5%), in sixteen women (76%) and five men, with a median age of 41 years. Thirteen were caucasians (62%). At the time of diagnosis, six (28.5%) had isolated abnormal liver function tests, and fifteen (71.4%) presented with clinical manifestations. The underlying cause was identified in 18 cases (85.7%). Eleven (52.3%) were systemic diseases: five (23.8%) primary biliary cirrhosis, two (9.5%) primary sclerosing cholangitis, two (9.5%) common variable immunodeficiency, one (4.7%) Sjögren's syndrome, and one (4.7%) Behçet's disease. Two (9.5%) patients had sarcoidosis. Three (14.3%) liver granulomatosis were of infectious origin (tuberculosis, schistosomiasis, and hepatitis C virus), two (9.5%) were neoplastic (Hodgkin's lymphoma and liver cell adenoma), and three (14.3%) were idiopathic. With a median of 38 months of follow-up, four patients (19%, two common variable immunodeficiency and two sarcoidosis) developed portal hypertension, independently of cirrhosis. One patient died of cryptococcosis.Conclusion
In accordance with other European studies, systemic diseases are the main causes of hepatic granulomas. Liver granulomatosis related to common variable immunodeficiency and sarcoidosis are at risk of portal hypertension. 相似文献7.
Jarrosson C Corcia P Goga D 《Revue de stomatologie et de chirurgie maxillo-faciale》2005,106(3):139-145
INTRODUCTION: Injury of the inferior alveolar nerve (IAN) is one of the most common complications of mandibular osteotomy. The wide differences in results published to date led us to evaluate the incidence of sensorial disorders persisting for one year in a series of 40 patients. MATERIAL AND METHOD: This study included 40 patients aged 14-58 years. We studied subjective expression of sensorial disorders using a questionnaire with items for the different orofacial functions related to the IAN. We studied the clinical expression of these sensorial disorders by testing the three modes of exteroceptive sensitivity (tact, temperature, pain) in 25 patients. Four clinical tests appropriate for the area of the mental nerve. Somesthesic evoked potentials were recorded in 8 patients. RESULTS: 77% of the patients complained of altered skin sensitivity but a sensorial deficit was revealed by clinical tests in only 60%. Somesthesic evoked potentials were perturbed for 64% of the nerves with a clinical deficit and in 100% without a clinical deficit. DISCUSSION: There was a greater incidence of subjective complaints than objective nerve injury. Recoring somesthesic evoked potentials provides interesting information for the electrophysiological diagnosis of nerve injury. Indications could be widened for traumatic injury of the IAN, particularly to obtain medicolegal documentation. 相似文献
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Rosilio M Berthezène F Blum WF Shavrikova EP Herschbach P Henrich G 《Annales d'endocrinologie》2004,65(5):439-450
The QLS-H(c) (Questions on Life Satisfaction- Hypopituitarism) is new a quality of life (QoL) self-administered questionnaire addressing the complaints of adult patients with growth hormone deficiency. The French version of the QLS-H(c) (16 items) has been psychometrically evaluated during a randomized, open label study comparing two strategies of growth hormone (GH) replacement therapy. Seventy-three patients were included and received an 8-month GH replacement therapy. QoL was explored at baseline, 4 and 8 months using the QLS-H(c) questionnaire and the Nottingham Health Profile (NHP) reference scale. Acceptance of the QLS-H(c) was excellent as 92% of the questionnaires were suitable for analysis. All the items demonstrated good selectivity. The homogeneity of the questionnaire was confirmed (Cronbach's alpha, 0.87). The external validity construct was assessed and confirmed using the NHP scores. Sensitivity to change was confirmed. Following an 8-month replacement therapy, the perception of the QoL assessed with the QLS-H(c) questionnaire was significantly improved, irrespective to the treatment strategy. Finally, redundant items of the questionnaire were removed. As a result, the final version of the QLS-H(c) contained 9 items. In a parallel study, reference data of the QLS-H(c) (9 items) were collected from a representative sample of 989 subjects from the French population. With these reference ranges, algorithms to calculate Z scores adjusted for age and gender were developed as a measure for the deviation of patients' scores from those of the general population, and also to evaluate changes along time. In summary, the French version of the quality of life QLS-H(c) questionnaire is a relevant, validated investigational tool for the evaluation and follow-up of an adult patient with growth hormone deficiency. 相似文献
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C. Blondeau J.-P. Rénéric C. Martin-Guehl M. Bouvard 《Annales médico-psychologiques》2009,167(3):234-242
Attention Deficit/Hyperactivity Disorder (ADHD) was considered, for a long time, as a disorder affecting children and adolescents, and was most often identified in the early development. It was less known that ADHD can be found in adults. Several arguments (clinics, neuropsychology, neuroanatomy, genetics, longitudinal studies and pharmacology) confirm that ADHD persists in adulthood for most of children and should be still treated, as long as the disorder leads to impairments. Nevertheless, ADHD in adults is considerably misdiagnosed in France. In fact, this can be explained by controverse, by its difficulty to be diagnosed, by a lack of consideration of developmental aspects… Diagnosis is based on clinical aspects, developmental and familial histories, adaptative strategies and functional alteration. Clinical interview put forward particularities in adulthood: decreasing (or change) of hyperactivity and impulsivity, persistance of attentional deficit, increasing of dysexecutive syndrome because demands in planification, social relationships and emotional management are often higher when people grow up. Several domains can be impaired: raising children, driving cars, working, taking care of themselves, daily managing… One of the most difficult issue about adult ADHD concerns criteriology. Although some authors (Wender, Hallowell and Ratey) have developped criteria based on more specific features of adulthood than those described in DSM-IV, criteria have still to be discussed: age-of-onset, number of symptoms required… Assesment scales can help clinicians to evaluate ADHD symptoms and impairments of their adult patients. Main scales are: Conners Adult ADHD Rating Scale (CAARS) and Adult ADHD Self-Report Scale (ASRS) for detection, ADHD behaviour checklist and ADHD rating scale IV for diagnosis, Wender Utah Rating Scale (WURS) for retrospective diagnosis in childhood and Brown Attention Deficit Disorder Scale for a better evaluation of executive functions. This evaluation should be completed by neuropsychological testing. The results can confirm the diagnosis and guide the treatment according to the neuropsychological profile. The more salient tasks for the diagnosis of adult ADHD seem to be: Continuous Performance Test (CPT) for selective and sustained attention, Trail making Test part B for cognitive flexibility, Stroop color/word interference test for inhibition capacity, verbal fluency and processing speed in WAIS-R. It is thus extremely important: (i) to recognize that ADHD affects also adults, at high rate (4% of general population), (ii) to keep in mind that developmental particularities make the disorder more “cognitive” than “behavioral”, (iii) to clarify the link between adult ADHD and the others psychiatric disorders, especially bipolar disorder, (iv) and to know that most of the adults with ADHD can be successfully treated by psychostimulants and psychotherapy, as in childhood. In France, only few teams evaluate ADHD in adulthood. So, one of the purpose of our article is to enable a better consideration of adult ADHD in our country. 相似文献