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1.
Nutr Cancer ; 76(10): 994-1000, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39033402

RESUMEN

During treatment, children with acute lymphoblastic leukemia (ALL) gain fat mass and lose skeletal muscle mass. The great majority live in low- and middle-income countries with few studies of their body composition and none addressing the hypothesis that the disease itself contributes to nutritional morbidity. At diagnosis, children with ALL were compared to their siblings on socioeconomic status (SES). Nutritional status was assessed by mid-upper arm circumference (MUAC)-for-age Z scores and body composition by dual energy x-ray absorptiometry (DXA). Median SES scores for the patients (47.5) and their siblings (47.0) were very similar (P = 0.5). MUAC Z scores for patients aged >5 years were lower than for siblings (P < 0.001). On DXA siblings had a higher mean appendicular lean mass index Z score, a surrogate of skeletal muscle mass, than patients (P = 0.019). A logistic model to estimate the odds ratio (OR) of being severely/moderately under-nourished (classified by MUAC Z score) by SES revealed that, compared with siblings (n = 49), children with ALL (n = 60) had a higher probability of being under-nourished (OR 5.25, 95% CI 1.44-25.95, P = 0.02). The results support the hypothesis that children at diagnosis of ALL in Guatemala are more nutritionally depleted than their apparently healthy siblings.


Asunto(s)
Absorciometría de Fotón , Composición Corporal , Estado Nutricional , Leucemia-Linfoma Linfoblástico de Células Precursoras , Hermanos , Humanos , Guatemala , Masculino , Femenino , Niño , Adolescente , Preescolar , Músculo Esquelético
2.
Psychiatry Res ; 339: 115997, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-38941862

RESUMEN

This study examined the association of clinical factors, independent of sex and high psychosocial adversity (HPAd), with the presence of ADHD or other mental disorders, specifically within a middle-income country with a non-Caucasian population. A multi-centric cross-sectional study was conducted in three sites in Colombia. Our study recruited trios of an ADHD proband, one sibling, and one parent. We used valid instruments for assessing parents and siblings. The sample included 223 siblings, an average age of 12.3 (SD 3.9), and 51.1% Females. The ADHD recurrence risk ratio (λ) was 12. The clinical factors mainly associated with the presence of ADHD, independent of sex and HPAd, were 1) Pregnancy and childbirth complications, 2) Delayed psychomotor development, 3) Temperament, and 4) Sleep disturbances. Our research showed that, independently of HPAd and the male sex, there were other clinical factors associated with ADHD and other psychiatric disorders in this population. These findings need to be replicated in similar populations globally.


Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad , Trastornos Mentales , Hermanos , Humanos , Femenino , Masculino , Colombia , Hermanos/psicología , Estudios Transversales , Niño , Adolescente , Trastornos Mentales/epidemiología , Factores Sexuales , Experiencias Adversas de la Infancia/estadística & datos numéricos , Factores de Riesgo
3.
PLoS One ; 19(5): e0303588, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38820363

RESUMEN

BACKGROUND: Forcibly displaced adolescents face increased risks for mental illness and distress, with adolescent girls disproportionately affected in part due to heightened gender inequity. Although the family unit has the potential to promote healthy development in adolescents, few family interventions have employed a gender transformative approach or included male siblings to maximize benefits for adolescent girls. METHODS: This study will assess a whole-family and gender transformative intervention-Sibling Support for Adolescent Girls in Emergencies (SSAGE)-to prevent mental health disorders among adolescent girls in Colombia who were recently and forcibly displaced from Venezuela. The study will employ a hybrid type 1 effectiveness-implementation pilot randomized control trial (RCT) to test the program's effectiveness to explore determinants of implementation to establish the feasibility, acceptability, and fidelity of SSAGE. To address these aims, we will enroll 180 recently arrived, forcibly displaced adolescent girls in an RCT and examine the program's effectiveness in the prevention of mental illness (through reduction in anxiety, depression, interpersonal sensitivity, and somatization symptoms) one-month post-intervention. We will use contextually adapted to collect data on the hypothesized mechanistic pathways, including family attachment, gender-equitable family functioning, self-esteem, and coping strategies. The implementation evaluation will employ mixed methods to assess the program's feasibility, acceptability, fidelity, and barriers and facilitators to successful implementation. DISCUSSION: Findings can support humanitarian program implementation, as well as inform policy to support adolescent girls' mental health and to prevent the myriad disorders that can arise as a result of exposure to displacement, conflict, and inequitable gender norms.


Asunto(s)
Trastornos Mentales , Hermanos , Adolescente , Femenino , Humanos , Masculino , Colombia/epidemiología , Trastornos Mentales/prevención & control , Trastornos Mentales/psicología , Proyectos Piloto , Refugiados/psicología , Hermanos/psicología , Ensayos Clínicos Controlados Aleatorios como Asunto
4.
Acta Psychol (Amst) ; 247: 104310, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38761756

RESUMEN

Prevalence estimates of sibling bullying indicate it occurs more frequently and with more negative consequences than peer bullying, yet many countries do not track or investigate the phenomenon. University students from Argentina, Estonia, and the United States were surveyed to investigate their retrospective experiences involving sibling bullying, how often it occurred, the roles held, and the forms communicated. In the aggregated data, roughly 50 % of the sampled emerging adults (N = 3477) reported experience with sibling bullying, with the dual role of bully-victim being the most frequently reported role held by males and females, with the second role being bully for males and victim for females. Verbal forms of bullying were most frequently reported by males and females, with physical, relational, and technological forms occurring less frequently, indicating the importance of studying the messages conveyed during bullying incidents. Variations between biological sex, bullying role and form were detected that indicate siblings experience bullying in ways that are unique from peer bullying. Country comparisons revealed bullying frequencies varied among males and females, suggesting sibling bullying experiences are likely to be culturally influenced. More research is warranted to examine the negative impact bullying has on sibling psycho-social development and the potential transfer to non-familial relationships and contexts. Discussion of these findings and the implications for academics and practitioners alike is provided.


Asunto(s)
Acoso Escolar , Humanos , Masculino , Femenino , Acoso Escolar/estadística & datos numéricos , Adulto Joven , Prevalencia , Adulto , Estados Unidos/epidemiología , Argentina/epidemiología , Adolescente , Estonia/epidemiología , Relaciones entre Hermanos , Estudiantes/estadística & datos numéricos , Estudiantes/psicología , Comparación Transcultural , Hermanos , Víctimas de Crimen/estadística & datos numéricos , Víctimas de Crimen/psicología
5.
J Pediatr (Rio J) ; 100(5): 519-526, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38663449

RESUMEN

OBJECTIVES: To investigate the associations between caregivers' burden, family quality of life (QoL), and siblings' QoL in Brazilian families of children with cerebral palsy, and to analyze siblings' QoL using as a parameter the QoL of typically developed Brazilian children. METHODS: It was a cross-sectional study. The 212 families, 212 caregivers and 131 siblings completed the Family Quality of Life Scale, Burden Interview, and KIDSCREEN-27 Child and Adolescent Version and Parents Version questionnaires at a neurorehabilitation center in southeast Brazil. Univariable and multivariable models were used. RESULTS: Family QoL significantly worsened as caregivers' burden increased (95 % CI -0.66 to -0.38). Caregivers' burden was significantly lower with increasing family QoL scores (95 % CI -0.52 to -0.30). Self-reported siblings' QoL was significantly worse than that of their typically developed peers (95 % CI -7.6 to -3.6). Self-reported siblings' QoL was significantly lower as siblings' age (95 % CI -2.52 to -0.59) and caregivers' burden (95 % CI -0.35 to -0.05) increased. Parent-reported siblings' QoL was significantly lower with increasing caregivers' burden (95 % CI -0.45 to -0.16) and higher as family QoL increased (95 % CI 0.09 to 0.37). CONCLUSIONS: The cross-sectional nature of these data precludes any statement of causality. Family QoL worsened with higher caregivers' burden levels. Lower caregivers' burden scores were associated with a higher family QoL. Siblings' QoL was impaired as compared to typically developed peers, worse among older siblings, and as caregivers' burden increased and better with higher family QoL levels. Future multicenter studies may validate the generalizability of the present findings.


Asunto(s)
Cuidadores , Parálisis Cerebral , Calidad de Vida , Hermanos , Humanos , Parálisis Cerebral/rehabilitación , Parálisis Cerebral/psicología , Niño , Masculino , Femenino , Brasil , Estudios Transversales , Hermanos/psicología , Cuidadores/psicología , Adolescente , Encuestas y Cuestionarios , Preescolar , Factores Socioeconómicos , Carga del Cuidador/psicología , Familia/psicología , Padres/psicología , Rehabilitación Neurológica
6.
Child Care Health Dev ; 50(2): e13246, 2024 03.
Artículo en Inglés | MEDLINE | ID: mdl-38483061

RESUMEN

BACKGROUND: Children with meningomyelocele may require continuous care. Consequently, there is a risk for caregiver burden and impact on family quality of life (QoL), including siblings' QoL. Some studies analysed caregivers' burden and family QoL separately. However, none of these studies evaluated siblings' QoL and the associations between these three dimensions. This study investigated the associations between caregivers' burden, family QoL and siblings' QoL in Brazilian families of children with meningomyelocele and its correlations with sociodemographic, functional and clinical variables. Siblings' QoL was specifically assessed using as a parameter the QoL of typically developed Brazilian children. METHODS: One hundred and fifty families, 150 caregivers and 68 siblings completed the Family Quality of Life Scale, Burden Interview, KIDSCREEN-27 Child and Adolescent Version and Parents Version questionnaires. RESULTS: Most families and caregivers reported a high family QoL and a low caregiver burden. Family QoL was significantly lower as caregivers' burden increased. Caregiver's burden was significantly lower with increasing family QoL levels. Self-reported siblings' QoL was significantly worse than that of typically developed peers. There were no significant differences between self and parent-reported siblings' QoL. Self-reported siblings' QoL was significantly worse as their age increased and better with increasing family QoL levels. Parent-reported siblings' QoL was significantly worse with increasing levels of caregiver's burden and significantly better as family QoL increased. There were no significant associations with functional and clinical variables. CONCLUSIONS: Despite the cross-sectional nature of the available data precludes any statements of causality, our results reinforce the relevance of knowing the factors that influence the QoL of families and siblings of children and adolescents with meningomyelocele and the relevance of actions aimed at reducing caregivers' burden, improving family QoL and meeting siblings' individual needs. Future multicenter studies may validate the generalizability of our findings.


Asunto(s)
Meningomielocele , Calidad de Vida , Niño , Humanos , Adolescente , Hermanos , Estudios Transversales , Cuidadores , Encuestas y Cuestionarios
7.
Schizophr Res ; 267: 156-164, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38547718

RESUMEN

We characterized the neurocognitive profile of communed-based individuals and unaffected siblings of patients with psychosis from Brazil reporting psychotic experiences (PEs). We also analyzed associations between PEs and the intra and inter-functional connectivity (FC) in the Default Mode Network (DMN), the Fronto-Parietal Network (FPN) and the Salience Network (SN) measured by functional magnetic resonance imaging. The combined sample of communed-based individuals and unaffected siblings of patients with psychosis comprised 417 (neurocognition) and 85 (FC) volunteers who were divided as having low (<75th percentile) and high (≥75th percentile) PEs (positive, negative, and depressive dimensions) assessed by the Community Assessment of Psychic Experiences. The neurocognitive profile and the estimated current brief intellectual quotient (IQ) were assessed using the digit symbol (processing speed), arithmetic (working memory), block design (visual learning) and information (verbal learning) subtests of Wechsler Adult Intelligence Scale-third edition. Logistic regression models were performed for neurocognitive analysis. For neuroimaging, we used the CONN toolbox to assess FC between the specified regions, and ROI-to-ROI analysis. In the combined sample, high PEs (all dimensions) were related to lower processing speed performance. High negative PEs were related to poor visual learning performance and lower IQ, while high depressive PEs were associated with poor working memory performance. Those with high negative PEs presented FPN hypoconnectivity between the right and left lateral prefrontal cortex. There were no associations between PEs and the DMN and SN FC. Brazilian individuals with high PEs showed neurocognitive impairments like those living in wealthier countries. Hypoconnectivity in the FPN in a community sample with high PEs is coherent with the hypothesis of functional dysconnectivity in schizophrenia.


Asunto(s)
Conectoma , Imagen por Resonancia Magnética , Trastornos Psicóticos , Humanos , Masculino , Femenino , Adulto , Trastornos Psicóticos/fisiopatología , Trastornos Psicóticos/diagnóstico por imagen , Adulto Joven , Red Nerviosa/fisiopatología , Red Nerviosa/diagnóstico por imagen , Red en Modo Predeterminado/fisiopatología , Red en Modo Predeterminado/diagnóstico por imagen , Hermanos , Brasil , Encéfalo/fisiopatología , Encéfalo/diagnóstico por imagen , Persona de Mediana Edad , Disfunción Cognitiva/fisiopatología , Disfunción Cognitiva/etiología , Disfunción Cognitiva/diagnóstico por imagen
8.
Psychol Med ; 54(9): 2099-2111, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38414355

RESUMEN

BACKGROUND: There is limited evidence as to whether the immune protein profile is associated with a particular symptomatology pattern across the psychosis continuum. METHODS: We estimated two bifactor models of general and specific dimensions of psychotic experiences in unaffected siblings of patients (n = 52) and community controls (n = 200), and of psychotic symptoms in first-episode psychosis (FEP) patients (n = 110). We evaluated associations between these transdiagnostic dimensions and trait (TNF-α, IFN-γ), state (IL-6, IL-1ß), and regulatory (TGF-ß, IL-10, IL-4) cytokines. We explored whether schizophrenia genetic liability (schizophrenia polygenic risk score; SZ-PRS) modified the associations. RESULTS: High levels of trait marker IFN-γ were associated with the severity of general psychosis dimension in the unaffected siblings and community controls, expanding to the depressive dimension in siblings and to the manic dimension in FEP. High TNF-α levels were associated with more positive psychotic experiences in unaffected siblings and manic symptoms in FEP. Low levels of state markers IL-6 and IL-1ß were observed in unaffected siblings presenting more depressive experiences. Still, high levels of IL-6 and IL-1ß were associated with the severity of the depressive and negative symptom dimensions at FEP. The severity of transdiagnostic dimension scores across the three groups was associated with lower regulatory cytokines. Exploratory analysis suggested that a high SZ-PRS contributed mostly to associations with psychotic dimensions. CONCLUSIONS: IFN-γ mapped onto the multidimensional expression of psychosis, reinforcing the trait concept. State markers IL-6 and IL-1ß may fluctuate along the spectrum. Dysfunction in the regulatory arm may disinhibit the inflammatory system. Associations with psychotic dimensions may be more prone to SZ-PRS susceptibility.


Asunto(s)
Trastornos Psicóticos , Esquizofrenia , Hermanos , Humanos , Trastornos Psicóticos/inmunología , Masculino , Femenino , Adulto , Adulto Joven , Esquizofrenia/inmunología , Citocinas/sangre , Interferón gamma/sangre , Adolescente , Herencia Multifactorial , Factor de Necrosis Tumoral alfa/sangre , Interleucina-1beta/sangre , Interleucina-6/sangre , Estudios de Casos y Controles , Predisposición Genética a la Enfermedad
9.
Braz J Psychiatry ; 46: e20233322, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38219215

RESUMEN

OBJECTIVE: The advancement of neuroimaging and genetic research has revealed the presence of morphological abnormalities and numerous risk genes, along with their associations. We aimed to estimate magnetic resonance imaging-derived cortical thickness across multiple brain regions. METHODS: The cortical thickness of 129 schizophrenia patients, 42 of their unaffected siblings, and 112 healthy controls was measured and the candidate genes were sequenced. Comparisons were made of cortical thickness (including 68 regions of the Desikan-Killiany Atlas) and genetic variants (in 108 risk genes for schizophrenia) among the three groups, and correlation analyses were performed regarding cortical thickness, clinical symptoms, cognitive tests (such as the N-back task and the logical memory test), and genetic variants. RESULTS: Schizophrenia patients had significantly thinner bilateral frontal, temporal, and parietal gyri than healthy controls and unaffected siblings. Association analyses in target genes showed that four single nucleotide variants (SNVs) were significantly associated with schizophrenia, including thioredoxin-related transmembrane protein 2-catenin, cadherin-associated protein, delta 1 (SNV20673) (positive false discovery rate [PFDR] = 0.008) and centromere protein M (rs35542507, rs41277477, rs73165153) (PFDR = 0.030). Additionally, cortical thickness in the right pars triangularis was lower in carriers of the SNV20673 variant than in non-carriers (PFDR = 0.048). Finally, a positive correlation was found between right pars triangularis cortical thickness and logical memory in schizophrenia patients (r = 0.199, p = 0.032). CONCLUSIONS: This study identified regional morphological abnormalities in schizophrenia, including the right homologue of Broca's area, which was associated with a risk variant that affected delta-1 catenin and logical memory. These findings suggest a potential association between candidate gene loci, cortical thickness, and schizophrenia.


Asunto(s)
Imagen por Resonancia Magnética , Polimorfismo de Nucleótido Simple , Esquizofrenia , Hermanos , Humanos , Esquizofrenia/genética , Esquizofrenia/diagnóstico por imagen , Esquizofrenia/patología , Masculino , Femenino , Adulto , Polimorfismo de Nucleótido Simple/genética , Estudios de Casos y Controles , Predisposición Genética a la Enfermedad/genética , Catenina delta , Cateninas/genética , Grosor de la Corteza Cerebral , Adulto Joven , Corteza Cerebral/patología , Corteza Cerebral/diagnóstico por imagen , Proteínas de la Membrana/genética , Persona de Mediana Edad , Genotipo
10.
Transpl Immunol ; 82: 101989, 2024 02.
Artículo en Inglés | MEDLINE | ID: mdl-38199270

RESUMEN

INTRODUCTION: Hematopoietic stem cell transplantation (HSCT) remains a critical treatment for advanced or high-risk hematological malignancies, posing challenges such as finding suitable donors and managing of graft-versus-host disease (GvHD). This study estimates 3-year overall survival in patients who underwent HSCT at our referral service in the state of Minas Gerais, Brazil. MATERIAL AND METHODS: This retrospective observational cohort study involved 41 patients who received HSCT between 2017 and 2021 at the Felício Rocho Hospital. Recipients received HSCT from either haploidentical donor (Haplo), matched unrelated donor (MUD), or HLA-matched sibling donor (MSD). The study evaluated parameters that included 3-year overall survival (OS), treatment-related mortality (TRM), GvHD incidence, post-transplant relapse rate, and engraftment. ANOVA, Kruskal-Wallis, and chi-square tests were used for statistical analysis. Survival curves were calculated using the Kaplan-Meier method and the Log-rank test compared the curves. RESULTS: Our study found that the engraftment time differed among groups: Haplo recipients engrafted earlier within a median of 16 days (ranging between 10 and 20 days) than MSD recipients with 18 days (ranging between 11 and 28 days), and MUD recipients with 19 days (ranging between 11 and 24 days; p = 0.019). Mild acute GvHD (grade I-II) was observed in 13 patients, progressing to chronic GvHD in 5 patients. Three-year OS rates were as follows: MSD group - 67.7%, Haplo group - 42.2%, and MUD group - 44.4% (MSD vs Haplo, p = 0.039). Three-year cumulative treatment-related mortality (TRM) rates were 17.8% for MSD group, 22.9% for Haplo group, and 22.1% for MUD group (pairwise comparisons p > 0.05). Infection-related mortality was reported in eight patients, while relapse rates at 3 years were similar across MSD, Haplo, and MUD groups (p = 0.891). Donor age influenced OS rates, showing better outcomes with donors under 45 years old, and significant differences were found in pairwise comparisons (p = 0.015). CONCLUSION: Donor type and donor age significantly impacted HSCT outcomes in our analysis, thus emphasizing the importance of rigorous donor selection in risk stratification and suggesting potential benefits for younger donors.


Asunto(s)
Enfermedad Injerto contra Huésped , Trasplante de Células Madre Hematopoyéticas , Humanos , Persona de Mediana Edad , Trasplante de Células Madre Hematopoyéticas/efectos adversos , Trasplante de Células Madre Hematopoyéticas/métodos , Recurrencia Local de Neoplasia/complicaciones , Recurrencia , Estudios Retrospectivos , Hermanos , Donante no Emparentado , Adulto
11.
Pediatr Emerg Care ; 40(6): e54-e60, 2024 Jun 01.
Artículo en Inglés | MEDLINE | ID: mdl-38227815

RESUMEN

OBJECTIVE: The objective of this study is to examine radiologic occult injury screening performance/yield among contacts presenting for precautionary medical assessments and assess factors associated with deferred screening. METHODS: Data were collected retrospectively from charts of contacts younger than 8 years presenting for precautionary evaluation to a level 1 pediatric emergency department January 1, 2018 to March 31, 2023. Demographics, radiologic performance/yield, physical examination, social work-based psychosocial assessment, reasons for deferred imaging, and diagnostic codes were abstracted. Descriptive statistics and χ 2 analysis are reported. RESULTS: Three hundred ninety contacts were identified; 364 (93.3%) were biological siblings. Most (276, 70.8%) were 2 to 8 years old. Statistically significant relationships were identified with age, insurance, and hospital social work assessment and screening. Thirty-four infants (54%) underwent neuroimaging; no studies were abnormal. Of 114 contacts, <2 years old, 97 (85%) underwent skeletal survey (SS); 9 (9%) SS were abnormal. Twenty-seven (24%) returned for follow-up SS; 4 (14.8%) were abnormal. For 2 contacts, an abnormal initial SS was refuted by follow-up imaging. Physical examinations were abnormal for 11% of contacts. Reasons for deferred imaging included contact well appearance, caregiver concerns, and clinician disagreement with indications. Encounter International Classification of Diseases codes varied, commonly reflecting nonspecific screening assessments. CONCLUSIONS: Despite national clinical practice guidelines, studies of abusive injury prevalence and radiologic yield among at-risk contacts exposed to unsafe environments are few. Screening evaluations inclusive of physical examination and radiologic studies identify abuse concerns among at-risk contacts. Further study of factors impacting radiologic screening decisions is needed. Considerations to advance epidemiologic research include standardized diagnostic coding and prospective assessment of radiologic yield.


Asunto(s)
Servicio de Urgencia en Hospital , Hermanos , Humanos , Masculino , Femenino , Estudios Retrospectivos , Preescolar , Niño , Lactante , Tamizaje Masivo/métodos , Maltrato a los Niños/diagnóstico , Maltrato a los Niños/estadística & datos numéricos , Examen Físico , Abuso Físico/estadística & datos numéricos , Heridas y Lesiones/epidemiología
12.
Behav Brain Res ; 461: 114842, 2024 03 12.
Artículo en Inglés | MEDLINE | ID: mdl-38160811

RESUMEN

Same-sex partner preference is present in many mammals, including rodents. Several possible causal factors have been proposed for the establishment of this preference. The Fraternal Birth Order effect refers to the observation that older brothers increase the probability of homosexuality in men, but no experiment has analyzed this possibility. In this study, partner preference (tested in a three compartments box) and female and male sexual behavior (studied in a cylindrical arena) were evaluated in young male rats (3 months) born to multiparous mothers that had 4-6 previous gestations and around 12 months of age. Control groups were young male rats born to primiparous young (4 months) or aged (12 months) mothers. In the partner preference test, the males born to multiparous dams spent less time interacting with the receptive female and more time interacting with the sexually active male, and a 39% exhibited same-sex partner preference. This high percentage seems related to multiparity of their mothers and not to maternal age, because the males born to primiparous aged females (12 months) showed a similar low proportion of same-sex partner preference than the males born to young (4 months) primiparous females (4%). In the sexual behavior tests, no male born of a multiparous dam and with same-sex preference ejaculated and 54% displayed proceptivity and lordosis. Present results suggest that the fraternal birth order effect may occur also in rats.


Asunto(s)
Conducta Sexual Animal , Parejas Sexuales , Humanos , Embarazo , Ratas , Masculino , Femenino , Animales , Lactante , Paridad , Conducta Sexual , Hermanos , Mamíferos
13.
Rev Colomb Psiquiatr (Engl Ed) ; 52(3): 193-200, 2023.
Artículo en Inglés, Español | MEDLINE | ID: mdl-37923415

RESUMEN

OBJECTIVE: We aim to determine the prevalence of mental disorders in siblings of children with attention deficit hyperactivity disorder (ADHD), and to determine how psychosocial adversity factors relate to this psychopathology, in a low-middle income country (Colombia). METHODS: We evaluated subjects with ADHD diagnosed according to the DSM-5 criteria, one of their parents and one of their siblings (ages 8-19). We used the ADHD rating scale and a set of instruments to assess the presence of mental disorders as well as psychosocial adversity. RESULTS: We evaluated 74 trios formed by the index case with ADHD, one sibling and one of the parents. We found that 24.3% of the participating siblings also met the criteria for ADHD and another 24.3% for other psychiatric disorders. The risk of these siblings having ADHD increased further when one of the parents reported a history of ADHD. We also found that 28.3% of the families faced high levels of psychosocial adversity as per their scores in the Rutter Adversity Index. CONCLUSIONS: Siblings of subjects with ADHD showed a significant risk for ADHD and other mental disorders. That risk increased if a parent reported a history of ADHD and also when two or more psychosocial adversity factors were present. This study supports the importance of early detection in efforts to decrease the risk for other siblings.


Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad , Niño , Humanos , Trastorno por Déficit de Atención con Hiperactividad/epidemiología , Trastorno por Déficit de Atención con Hiperactividad/diagnóstico , Hermanos , Estudios Transversales , Colombia/epidemiología
14.
Cien Saude Colet ; 28(9): 2689-2698, 2023 Sep.
Artículo en Portugués | MEDLINE | ID: mdl-37672457

RESUMEN

The scope of this article was to understand the self-perception of children/adolescents who live with siblings with disabilities. It involved qualitative research, with a hermeneutic-phenomenological approach, with 20 children and adolescents who live with a disabled sibling from a municipality in the state of Rio Grande do Sul/Brazil. Phenomenological interviews, field diaries and hermeneutic interpretations were used. There were gaps in care, need for attention and understanding on the part of the family, due to the attention given to the disabled sibling. Also, the fear and anguish of the death of the grandparents, the death of the disabled sibling, the nostalgia of the grandparents after their death. It was shown that these children/adolescents live together and question the birth and existence of the sibling. By shining a light on the child/adolescent's life experience, gaps and weaknesses in the relationship with parents, in health care, in situations of vulnerabilities experienced by the child/adolescent and family were revealed. Thus, attention needs to be devoted to this population, considering that they live with siblings with disabilities, and have several vulnerabilities that need to be discussed, aiming at developing inclusive and efficient care strategies.


O objetivo deste artigo é compreender a percepção de si de crianças/adolescentes que convivem com o irmão com deficiência. Pesquisa qualitativa, com abordagem hermenêutico-fenomenológica e participação de 20 crianças e adolescentes que convivem com o irmão com deficiência em um município do estado do Rio Grande do Sul, Brasil. Utilizou-se entrevista fenomenológica, diário de campo e interpretação hermenêutica. Evidenciaram-se lacunas de cuidado, necessidade de atenção, compreensão por parte da família, visto a atenção ser ao irmão com deficiência. O medo e a angústia da morte dos avós, da morte do irmão com deficiência, a saudade dos avós após sua morte. Percebe-se que essas crianças/adolescentes convivem e questionam o nascimento e a existência do irmão. Desvelou-se, ao dar luz ao mundo vivido da criança/adolescente, lacunas e fragilidades na relação com os pais, na atenção à saúde e nas situações de vulnerabilidades vivenciadas pela criança/adolescente e a família. Dessa forma, é necessário atenção a essa população, considerando que convivem com irmãos com deficiência e apresentam diversas vulnerabilidades que precisam ser discutidas, visando elaborações de estratégias de cuidado inclusivas e eficientes.


Asunto(s)
Personas con Discapacidad , Hermanos , Humanos , Adolescente , Niño , Autoimagen , Brasil , Miedo
15.
BMC Med Genomics ; 16(1): 186, 2023 08 12.
Artículo en Inglés | MEDLINE | ID: mdl-37573316

RESUMEN

BACKGROUND: Xeroderma pigmentosum group E (XP-E) is one of the least common forms of XP, a rare syndrome where patients are prone to develop skin cancer in exposed sunlight areas. XP-E patients are generally not diagnosed until they are adults due to the mild phenotype. CASE PRESENTATION: two XP-E siblings, female, 23 years, and male, 25 years, from a Brazilian consanguineous family carrying the novel missense pathogenic variant in DDB2 gene, NM_000107.3:c.1027G > C, associated with skin cancer early-onset and severe phenotype, as nodular melanoma in the cornea and in the ear. CONCLUSION: The assessment of genomic variant pathogenicity was a challenge since this family belongs to an underrepresented population in genomic databases. Given the scarcity of literature documenting XP-E cases and the challenges encountered in achieving an early diagnosis, this report emphasizes the imperative of sun protection measures in XP-E patients. Additionally, it highlights the detrimental impact of the COVID-19 pandemic on cancer diagnosis, leading to the manifestation of a severe phenotype in affected individuals.


Asunto(s)
COVID-19 , Melanoma , Neoplasias Cutáneas , Xerodermia Pigmentosa , Masculino , Femenino , Humanos , Xerodermia Pigmentosa/genética , Xerodermia Pigmentosa/epidemiología , Xerodermia Pigmentosa/patología , Brasil , Pandemias , Hermanos , COVID-19/epidemiología , Melanoma/genética , Neoplasias Cutáneas/genética , Reparación del ADN , Proteínas de Unión al ADN/genética
17.
Rev Gaucha Enferm ; 44: e20220109, 2023.
Artículo en Inglés, Portugués | MEDLINE | ID: mdl-37341285

RESUMEN

OBJECTIVE: To understand, through dramatic therapeutic play, the experiences of siblings of children with chronic diseases. METHOD: Phenomenological study, in the light of Heideggerian philosophical framework, conducted with 12 siblings of children with chronic diseases, aged between three and 11 years, accompanied in a public teaching hospital in the countryside of the state of São Paulo. The phenomenological interviews were audio-recorded and mediated by sessions of dramatic therapeutic play; later, interpreted from the Heideggerianphilosophical framework and thematic literature. RESULTS: The siblings demonstrated that they are affectively touched in the mode of sadness, longing and affection towards the sick child and, by the daily occupations imposed by the disease. CONCLUSION: The dramatic therapeutic play enabled the siblings of children with chronic diseases to expose their experiences permeated by the limitations of the child's chronic disease. Instituting actions for the inclusion of the sibling during the nursing care of the child with chronic disease is urgent to improve its quality.


Asunto(s)
Academias e Institutos , Hermanos , Humanos , Niño , Preescolar , Brasil , Enfermedad Crónica , Hospitales Públicos
18.
Int J Legal Med ; 137(4): 1017-1022, 2023 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-37209137

RESUMEN

This work presents the results of a DNA test aimed to determine a possible biological link of paternal half brotherhood of two males. The combined use of biparentally inherited markers (autosomal STRs) and a panel of 27 Y-STRs allowed us to determine the existence of a biological relationship of kinship, even after detecting three mutations at their Y-STR haplotypes along the analyses, constituting an infrequent multiple mutation situation. This case is an example illustrating the importance of having different analytical markers sets and strategies for clarifying complex kinship cases where mutations occur.


Asunto(s)
Repeticiones de Microsatélite , Hermanos , Masculino , Humanos , Haplotipos , Genotipo , Cromosomas Humanos Y , Mutación , Dermatoglifia del ADN , Genética de Población
19.
Rev Gaucha Enferm ; 43: e20220129, 2023.
Artículo en Inglés, Portugués | MEDLINE | ID: mdl-36888742

RESUMEN

OBJECTIVE: To understand the child/adolescent's perception of the disabled sibling. METHOD: Qualitative research, with a phenomenological approach, conducted between 2018 and 2019, in a municipality in the south of Brazil, with 20 children/adolescents who are siblings of people with disabilities, through a phenomenological interview. Respecting ethical precepts, hermeneutics was used for interpretation. RESULTS: The child/adolescent perceives his/her disabled sibling as a normal person, given his/her behavior, way of being and intellectual capacity. Still, it understands him as a special being, who has limitations regarding learning, but does not see him as different, thus, unlinks the idea of disability associated with the disease/abnormality. FINAL CONSIDERATIONS: The perception of the disabled sibling occurs within the perception of normality. The child identifies his sibling's lower learning capacitor a way that is unique to him, a fact that does not condition him to be seen as abnormal, defining his being-in-the-world as a special way of existing.


Asunto(s)
Personas con Discapacidad , Hermanos , Humanos , Niño , Adolescente , Masculino , Femenino , Aprendizaje , Investigación Cualitativa , Percepción
20.
Artículo en Inglés | MEDLINE | ID: mdl-36901221

RESUMEN

Physical activity is associated with a host of positive health outcomes and is shaped by both genetic and environmental factors. We aim to: (1) estimate sibling resemblance in two physical activity phenotypes [total number of steps∙day-1 and minutes for moderate steps per day (min∙day-1)]; and (2) investigate the joint associations of individual characteristics and shared natural environment with intra-pair sibling similarities in each phenotype. We sampled 247 biological siblings from 110 nuclear families, aged 6-17 years, from three Peruvian regions. Physical activity was measured using pedometers and body mass index was calculated. In general, non-significant variations in the intraclass correlation coefficients were found after adjustment for individual characteristics and geographical area for both phenotypes. Further, no significant differences were found between the three sib-ship types. Sister-sister pairs tended to take fewer steps than brother-brother (ß = -2908.75 ± 954.31). Older siblings tended to walk fewer steps (ß = -81.26 ± 19.83), whereas body mass index was not associated with physical activity. Siblings living at high-altitude and in the Amazon region had higher steps/day (ß = 2508.92 ± 737.94; ß = 2213.11 ± 776.63, respectively) compared with their peers living at sea-level. In general, we found no influence of sib-types, body mass index, and/or environment on the two physical activity phenotypes.


Asunto(s)
Aptitud Física , Hermanos , Masculino , Humanos , Perú , Ejercicio Físico , Índice de Masa Corporal
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