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1.
PLoS One ; 19(4): e0301594, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38662661

RESUMO

BACKGROUND: Parents of preterm infants in the Neonatal Intensive Care Unit (NICU) environment may experience psychological distress, decreased perceived self-efficacy, and/or difficulties in establishing an adaptive parent-infant relationship. Early developmental care interventions to support the parental role and infant development are essential and their impact can be assessed by an improvement of parental self-efficacy perception. The aims were to assess the effects of an early intervention provided in the NICU (the Joint Observation) on maternal perceived self-efficacy compared to controls (primary outcome) and to compare maternal mental health measures (perceived stress, anxiety, and depression), perception of the parent-infant relationship, and maternal responsiveness (secondary outcomes). METHODS: This study was a monocentric randomized controlled trial registered in clinicatrials.gov (NCT02736136), which aimed at testing a behavioural intervention compared with treatment-as-usual. Mothers of preterm neonates born 28 to 32 6/7 weeks gestation were randomly allocated to either the intervention or the control groups. Outcome measures consisted of self-report questionnaires completed by the mothers at 1 and 6 months after enrollment and assessing perceived self-efficacy, mental health, perception of the parent-infant relationship and responsiveness, as well as satisfaction with the intervention. RESULTS: No statistically significant group effects were observed for perceived maternal self-efficacy or the secondary outcomes. Over time, perceived maternal self-efficacy increased for mothers in both groups, while anxiety and depression symptoms decreased. High satisfaction with the intervention was reported. CONCLUSIONS: The joint observation was not associated with improved perceived maternal self-efficacy or other mental health outcomes, but may constitute an additional supportive measure offered to parents in a vulnerable situation during the NICU stay.


Assuntos
Recém-Nascido Prematuro , Unidades de Terapia Intensiva Neonatal , Saúde Mental , Mães , Autoeficácia , Humanos , Feminino , Recém-Nascido , Adulto , Mães/psicologia , Masculino , Ansiedade/psicologia , Depressão/psicologia , Estresse Psicológico
2.
Clin Endocrinol (Oxf) ; 94(2): 277-289, 2021 02.
Artigo em Inglês | MEDLINE | ID: mdl-33098107

RESUMO

CONTEXT: The international GENHYPOPIT network collects phenotypical data and screens genetic causes of non-acquired hypopituitarism. AIMS: To describe main phenotype patterns and their evolution through life. DESIGN: Patients were screened according to their phenotype for coding sequence variations in 8 genes: HESX1, LHX3, LHX4, PROP1, POU1F1, TBX19, OTX2 and PROKR2. RESULTS: Among 1213 patients (1143 index cases), the age of diagnosis of hypopituitarism was congenital (24%), in childhood (28%), at puberty (32%), in adulthood (7.2%) or not available (8.8%). Noteworthy, pituitary hormonal deficiencies kept on evolving during adulthood in 49 of patients. Growth Hormone deficiency (GHD) affected 85.8% of patients and was often the first diagnosed deficiency. AdrenoCorticoTropic Hormone deficiency rarely preceded GHD, but usually followed it by over 10 years. Pituitary Magnetic Resonance Imaging (MRI) abnormalities were common (79.7%), with 39.4% pituitary stalk interruption syndrome (PSIS). The most frequently associated extrapituitary malformations were ophthalmological abnormalities (16.1%). Prevalence of identified mutations was 7.3% of index cases (84/1143) and 29.5% in familial cases (n = 146). Genetic analysis in 449 patients without extrapituitary phenotype revealed 36 PROP1, 2 POU1F1 and 17 TBX19 mutations. CONCLUSION: This large international cohort highlights atypical phenotypic presentation of constitutional hypopituitarism, such as post pubertal presentation or adult progression of hormonal deficiencies. These results justify long-term follow-up, and the need for systematic evaluation of associated abnormalities. Genetic defects were rarely identified, mainly PROP1 mutations in pure endocrine phenotypes.


Assuntos
Hipopituitarismo , Adulto , Estudos de Coortes , Proteínas de Homeodomínio/genética , Humanos , Hipopituitarismo/genética , Imageamento por Ressonância Magnética , Mutação , Fatores de Transcrição/genética
3.
Emerg Radiol ; 26(5): 507-514, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31154537

RESUMO

BACKGROUND: Surgical incision with drainage remains the first-line therapy recommendation for breast abscesses greater than 5 cm. PURPOSE: To determine recovery with ultrasound guided (US-guided) procedures for treatment of lactational breast abscesses without surgical incision for drainage. MATERIAL AND METHODS: Institutional review board approval and written informed patient consent were obtained for this retrospective study. From May 1, 2009, to June 1, 2018, 92 consecutive women (mean age 30 years, range 18-45) with 105 abscesses were treated with oral antibiotics and US-guided percutaneous drainage under local anesthesia. A total number of 202 US-guided procedures were performed. Three techniques were used: needle aspiration (diameter 18 to 14G), pigtail catheter insertion (diameter 5 to 7F), and/or vacuum-assisted biopsy/aspiration (diameter 10G). When using needle aspiration or pigtail catheter, a saline irrigation of the cavity was performed according to pus viscosity. RESULTS: The median diameter of abscesses was 4.5 cm (range 1-15), 82/105 (78%) were larger than 3 cm and 40/105 (38%) larger than 5 cm. US-guided management was successful for 101/105 (96%; 95% CI, (91-99%)) abscesses regardless the size. After the first round of procedures, 49/105 (47%) abscesses were recovered, 56/105 (53%) needed more than one drainage with a median number drainages of 2.6 (2-6). In 4/105 cases (4%), women underwent additional surgery under general anesthesia. By excluding abscesses which occurred in the weaning phase (n = 17), breastfeeding carried on for 68/75 (91%) women. CONCLUSION: Unlike previous studies, US percutaneous guided management of lactational abscesses is effective even for abscesses greater than 5 cm and allows continued breastfeeding.


Assuntos
Abscesso/terapia , Doenças Mamárias/terapia , Lactação , Ultrassonografia de Intervenção , Abscesso/diagnóstico por imagem , Adolescente , Adulto , Doenças Mamárias/diagnóstico por imagem , Drenagem , Feminino , Humanos , Pessoa de Meia-Idade , Estudos Retrospectivos
4.
BMJ Open ; 9(3): e026484, 2019 03 30.
Artigo em Inglês | MEDLINE | ID: mdl-30928952

RESUMO

INTRODUCTION: Preterm birth may generate significant distress among the parents, who often present with difficulties in appropriating their parental role. Parental stress and low perceived parental self-efficacy may interfere with the infant's socioemotional and cognitive development, particularly through disrupted parent-infant interactions. Perceived parental self-efficacy represents the belief of efficacy in caring for one's own infant and successful incarnation of the parental role, as well as the perception of one's own abilities to complete a specified task. Interventions to support parental role, as well as infant development, are needed, and parental self-efficacy represents a useful indicator to measure the effects of such early interventions. METHODS AND ANALYSIS: This study protocol describes a randomised controlled trial that will test an early intervention in the neonatal intensive care unit (NICU) (JOIN: Joint Observation In Neonatology) carried out by an interdisciplinary staff team. Mothers of preterm neonates born between 28 and 32 6/7 weeks of gestational age are eligible for the study. The intervention consists of a videotaped observation by a clinical child psychologist or child psychiatrist and a study nurse of a period of care delivered to the neonate by the mother and a NICU nurse. The care procedure is followed by an interactive video guidance intended to demonstrate the neonate's abilities and resources to his parents. The primary outcome will be the difference in the perceived maternal self-efficacy between the intervention and control groups assessed by self-report questionnaires. Secondary outcomes will be maternal mental health, the perception of the parent- infant relationship, maternal responsiveness and the neurodevelopment of the infant at 6 months corrected age. ETHICS AND DISSEMINATION: Ethical approval was granted by the Human Research Ethics Committee of the Canton de Vaud (study number 496/12). Results from this study will be disseminated at national and international conferences, and in peer-reviewed journals. TRIAL REGISTRATION NUMBER: NCT02736136, Pre-results.


Assuntos
Cuidado do Lactente/psicologia , Mães/educação , Poder Familiar/psicologia , Humanos , Recém-Nascido , Recém-Nascido Prematuro , Unidades de Terapia Intensiva Neonatal , Mães/psicologia , Projetos de Pesquisa , Autoeficácia
5.
J Abnorm Child Psychol ; 45(4): 671-680, 2017 May.
Artigo em Inglês | MEDLINE | ID: mdl-27573689

RESUMO

Compared with full-terms, preterm individuals are more at risk from infancy to adulthood for developing internalizing symptoms. Early maternal interactive behavior, especially maternal sensitivity, has been found to be a resilience factor in the developmental outcome of preterm children. The present longitudinal study aimed at examining whether early interactive parenting behaviors have a long term impact on the internalizing symptoms of preterm-born young adolescents. A total sample of 36 very preterm and 22 full-term children participated in an 11-year follow-up study. Maternal interactive behavior was assessed during a mother-infant interaction when the infant was 18 months old. At 11 years, internalizing symptoms were assessed with the Child Behavior Checklist (CBCL). Hierarchical regression analyses revealed that the interaction between groups (preterm/full-term) and maternal sensitivity at 18 months significantly explained CBCL internalizing symptoms at 11 years (ß = -0.526; p < 0.05). Specifically, although prematurity was related to internalizing problems, preterm children with higher maternal sensitivity did not differ from their full-term-born peers on the CBCL internalizing problems domain. These results suggest that maternal sensitivity is a long-term resilience factor preventing the development of internalizing problems at early adolescence in very preterm individuals.


Assuntos
Comportamento Infantil/psicologia , Recém-Nascido Prematuro/psicologia , Comportamento Materno/psicologia , Relações Mãe-Filho/psicologia , Poder Familiar/psicologia , Comportamento Problema/psicologia , Resiliência Psicológica , Criança , Humanos , Lactente , Lactente Extremamente Prematuro/psicologia , Estudos Longitudinais
6.
J Clin Endocrinol Metab ; 97(1): E121-8, 2012 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-22013103

RESUMO

CONTEXT: Among 22 independent patients from the GENHYPOPIT network who had ACTH deficiency and no identified mutation of TPIT, three of them (13.6%) displayed common variable immunodeficiency (CVID), characterized by defective Ig production. OBJECTIVE: Our objective was to describe an as yet unrecognized disease association. DESIGN: We considered the hypothesis of ACTH deficiency being associated with antipituitary autoimmunity or lymphocytic hypophysitis. In the context of a functional network between the immune and endocrine systems, we also tested the hypothesis of a common genetic cause using a candidate gene approach. SETTING: This was a multicentric study in three academic hospitals. PATIENTS: We report four patients from three unrelated families presenting with ACTH deficiency and CVID. MAIN OUTCOME MEASURES: Detection of antipituitary autoantibodies, and sequencing of candidate genes (LIF, IKAROS, EOS) were the main outcome measures. RESULTS: All patients including a pedigree with two affected siblings had ACTH deficit diagnosed from 5-15 yr, with symptomatic hypoglycemia, and CVID diagnosed from 2-8 yr revealed by recurrent infections. Three of the four patients had a hypoplastic pituitary. One patient had low IGF-I and subnormal GH response to stimulation, suggesting that secretion of other pituitary hormones may also be affected. All patients proved negative for pituitary autoantibodies and had no alteration in any of the genes tested. CONCLUSIONS: The remarkable association of two rare disorders affecting two functionally related systems in four patients from three independent pedigrees including a familial case provides strong evidence of the existence of a disease association: deficit in anterior pituitary function and variable immune deficiency, or DAVID.


Assuntos
Hormônio Adrenocorticotrópico/deficiência , Doenças Autoimunes do Sistema Nervoso/complicações , Infecções/complicações , Doenças da Hipófise/complicações , Adeno-Hipófise , Hormônios Adeno-Hipofisários/deficiência , Hormônio Adrenocorticotrópico/sangue , Adulto , Doenças Autoimunes do Sistema Nervoso/diagnóstico , Doenças Autoimunes do Sistema Nervoso/epidemiologia , Doenças Autoimunes do Sistema Nervoso/genética , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Infecções/epidemiologia , Infecções/genética , Masculino , Linhagem , Fenótipo , Doenças da Hipófise/diagnóstico , Doenças da Hipófise/epidemiologia , Doenças da Hipófise/genética , Adeno-Hipófise/metabolismo , Adeno-Hipófise/patologia , Hormônios Adeno-Hipofisários/sangue , Índice de Gravidade de Doença , Anticorpos de Cadeia Única/genética , Adulto Jovem
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