Genetic and clinical characterization of a novel FH founder mutation in families with hereditary leiomyomatosis and renal cell cancer syndrome.

BACKGROUND: Hereditary leiomyomatosis and renal cell cancer syndrome is a rare autosomal dominant hereditary syndrome. Previously, we published the largest cohort of FH mutation carriers in Spain and observed a highly recurrent missense heterozygous variant, FH(NM_000143.4):c.1118A > G p.(Asn373Ser), in 104 individuals from 31 apparently unrelated families. Here, we aimed to establish its founder effect and characterize the associated clinical phenotype. RESULTS: Haplotype analysis confirmed that families shared a common haplotype (32/38 markers) spanning 0.61-0.82 Mb, indicating this recurrent variant was inherited from a founder ancestor. Cutaneous and uterine leiomyomatosis were diagnosed in 64.6% (64/99) and 98% (50/51) of patients, respectively, and renal cell cancer was present in 10.4% (10/96). The pathogenic FH_c.1118A > G variant is a Spanish founder mutation that originated 12-26 generations ago. We estimate that the variant may have appeared between 1370 and 1720. Individuals carrying this founder mutation had similar frequency of renal cell cancer and a higher frequency of renal cysts and leiomyomas than those in other cohorts of this syndrome. CONCLUSIONS: In the Spanish province of Alicante there is a high prevalence of HLRCC because of the founder mutation FH c.1118A > G; p.(Asn373Ser). The characterization of founder mutations provides accurate and specific information regarding their penetrance and expressivity. In individuals with suspected HLRCC from the province of Alicante, genetic testing by direct analysis of the founder FH c.1118A > G; p.(Asn373Ser) mutation may be a faster and more efficient diagnostic tool compared with complete gene sequencing.

Examining the association between subjective childbirth experience and maternal mental health at six months postpartum.

PROBLEM: Childbirth experience can have long-lasting effects on maternal wellbeing. BACKGROUND: Positive childbirth experiences may strengthen maternal self-confidence, in contrast, negativeexperiences may promote a sense of failure or distrust. AIM: To examine the contribution of maternal hospital childbirth experience on mental health at 6 months postpartum in a community-based, Chilean sample. An additional aim is to examine which childbirth-related aspects contribute to the global birth experience. METHODS: One hundred and forty-eight women completed self-report measures of mental health during the third trimester of pregnancy and 3 and 6 months postpartum. At 3months after childbirth, subjective childbirth experience was assessed. Logistic regression analysis examined the contribution of childbirth experience to maternal mental health. FINDINGS: Negative subjective experience of childbirth contributes to maternal depression and anxiety up to 6 months after childbirth, controlling for mental health during pregnancy and at 3 months postpartum. Quality of care from health professionals made the largest, statistically significant contribution to the global perception of childbirth. DISCUSSION AND CONCLUSIONS: Subjective experience of childbirth is a modifiable risk factor for the development of postpartum maternal depression and anxiety. Health providers in direct contact with childbearing women may promote maternal emotional wellbeing through sensitive and respectful care.

Ser padres en una unidad de neonatología: una construcción desde las creencias y experiencias en este contexto / Ser pai em unidade neonatal: uma construção a partir das crenças e experiências neste contexto / Being parents in a neonatology unit: a construction based on beliefs and experiences in this context

Resumen Introducción El tener un hijo hospitalizado en una unidad de neonatología es una experiencia compleja tanto para las madres como para los padres. Hay evidencia respecto a las diferencias en que las madres y padres vivencian el hecho de tener un bebé prematuro hospitalizado y cómo ambos requieren de intervenciones diferenciadas para sobrellevar de mejor manera este periodo. Objetivo Conocer a través de las narrativas de los padres cómo ellos van construyendo su rol parental durante la hospitalización de su bebé prematuro y cómo esto puede ser influenciado tanto por factores externos como internos del sujeto. Método Para este estudio se utilizó una metodología cualitativa con un enfoque fenomenológico. Se realizaron entrevistas en profundidad a 14 padres cuyos bebés estaban hospitalizados en un servicio de neonatología, luego se realizó un análisis temático. Resultados A partir del análisis de las entrevistas emergieron cuatro categorías principales: "Ser padres en una unidad de neonatología", "La construcción del rol", "Paternidad y trabajo" y "Experiencias que marcan la vida". Conclusiones Las narrativas de los padres fueron un aporte a la comprensión de sus vivencias en este contexto, es así como se pudo ver como sus ideales y creencias se vieron enfrentados a la realidad de tener un hijo prematuro, lo que fue marcando la construcción y definición de su rol. Esta información podría ser de utilidad para los terapeutas ocupacionales y profesionales de la salud que trabajen en esta área.

Resumo Introdução Ter um filho internado em uma unidade neonatal é uma experiência complexa para mães e pais. Há evidências sobre as diferenças em que mães e pais vivenciam o fato de ter um bebê prematuro hospitalizado e como ambos necessitam de intervenções diferenciadas para melhor lidar com esse período. Objetivo Conhecer através das narrativas dos pais como eles constroem seu papel parental durante a hospitalização de seu bebê prematuro e como isso pode ser influenciado tanto por fatores externos quanto internos do sujeito. Método Para este estudo foi utilizada a metodologia qualitativa com abordagem fenomenológica. Foram realizadas entrevistas em profundidade com 14 pais cujos bebês estavam internados em um serviço neonatal, em seguida foi realizada uma análise temática. Resultados Das entrevistas emergiram quatro categorias principais: "Ser pais em uma unidade neonatal", "A construção do papel", "Paternidade e trabalho" e "Experiências que marcam a vida". Conclusões As narrativas dos pais foram um contributo para a compreensão das suas vivências neste contexto, assim foi possível perceber como os seus ideais e crenças foram confrontados com a realidade de ter um filho prematuro, que marcou a construção e definição do seu papel. Esta informação pode ser útil para terapeutas ocupacionais e profissionais de saúde que trabalham nesta área.

Abstract Introduction Having an infant hospitalized in a neonatal care unit is a complex experience for mothers and fathers. There is evidence of the differences in which most parents experience the fact of having a hospitalized premature baby and how both need differentiated interventions to better deal with this period. Objective To know through the narratives of fathers how they construct their parental role during the hospitalization of their premature newborn and how it can be influenced by both external and internal factors of the subject. Method For this study, a qualitative methodology with a phenomenological approach was used. In-depth interviews were carried out with 14 fathers whose babies were hospitalized in a neonatal care unit, and then a thematic analysis was carried out. Results Four main categories emerged from the interviews: "Being a father in a neonatal unit", "Building the father role", "Parenting and work" and "Experiences that impact your life". Conclusions Fathers' narratives contributed to the understanding of their experiences in this context, and it was possible to perceive how their ideas and beliefs were confronted with the reality of a premature ending, which marked the construction and definition of their role. This information could be useful for occupational therapists and health professionals working in this area.

Mother's mental health and the interaction with her moderate preterm baby in the NICU.

INTRODUCTION: Moderate preterm infants, born between 320/7 and 336/7 weeks, represent a significant number of preterm-born infants; however, they remain a poorly studied group despite their vulnerability. The objective of this correlational study is to describe the impact of having a moderate preterm infant hospitalised in the NICU on the mothers' mental health and how this relates to the interaction between the dyad. METHOD: During the hospitalisation period, 85 moderate preterm mother-infant dyads participated in this study. The participants provided self-reports of depression, parental stress, and skin to skin and breastfeeding practices. Also, mother-infant interaction was assessed in the NICU with an observational scale. RESULTS: Mothers evidenced high levels of stress and depressive symptoms during the hospitalization. The stress experienced by these women was significant, although weakly, associated with the interaction with their babies; and mothers of small for gestational age babies showed difficulties in this area. CONCLUSIONS: The results of this study could represent a contribution to a better understanding of the relation between the characteristics of moderate preterm babies, maternal emotional wellbeing, and the quality of mother-infant interactions in NICU settings.

[Interactions between mothers and their moderate preterm babies during hospitalization]. / Interacciones entre las madres y sus bebés prematuros moderados durante la hospitalización.

Moderately preterm infants are physiologically immature, their brains must mature and adapt to the extrauterine environment, which can affect their neurological development. Interaction with their caregivers is crucial for their development, however, these may show mental health problems such as depressive symptoms and parental stress. OBJECTIVE: to evaluate how depressive symptomatology and stress perception of mothers of moderately preterm infants during hospitalization may affect dyad interaction. PATIENTS AND METHOD: 85 dyads participated. During the second and third weeks of hospitalization, mothers answered a sociodemographic questionnaire, the parental stress scale, and the Edinburgh postnatal depression scale. Mother-infant interaction was assessed and coded with the Hospitalized Mother-Infant Bonding Observation Scale. RESULTS: mothers of moderately preterm infants hospitalized in a neonatology unit may present significant depressive symptomatology which correlate with the stress experienced by the mother. Parental stress and being small for gestational age showed a negative association with dyad interactions. CONCLUSIONS: Having a moderately preterm baby can impact the mental health of mothers and this, at the same time, is related to the interactions they have with their children. Likewise, variables related to the babies were detected that can also decrease the interactions and contact between the dyad.

LARAMOTIONS: a conceptual study on laser networks for near-term collision avoidance for space debris in the low Earth orbit.

A conceptual study has been carried out on laser station networks to enhance Space Situational Awareness and contribute to collision avoidance in the low Earth orbit by high-precision laser tracking of debris objects and momentum transfer via photon pressure from ground-based high-power lasers. Depending on the network size, geographical distribution of stations, orbit parameters, and remaining time to conjunction, multipass irradiation enhances the efficiency of photon momentum coupling by 1-2 orders of magnitude and has the potential to eventually yield a promisingly significant reduction of the collision rate in low Earth orbit.

Maternidad, migración y prematuridad: experiencias en una unidad de neonatología / Maternity, migration and prematurity: experiences in a neonatal care unit / Maternidade, migração, e prematuridade: experiências em uma unidade de neonatologia

Resumen Los procesos migratorios son un fenómeno global que puede resultar en condiciones de vida más vulnerables. Dadas estas condiciones es que se hace relevante brindar los apoyos necesarios para las familias en situación de migración, donde algunos momentos críticos para esto serán el embarazo, el parto y la crianza. Es así como las mujeres migrantes viven su maternidad en un contexto cultural distinto y que dadas las condiciones de vida desfavorables pueden enfrentar dificultades en el embarazo, tales como el parto prematuro, lo que podría representar una experiencia traumática y estresante. Existen pocos estudios que aborden estas temáticas en Latinoamérica y es por esto que el objetivo de este estudio es describir las vivencias de madres migrantes con un hijo o hija de pretérmino hospitalizado/a en una unidad de neonatología. Se utilizó una metodología cualitativa con un enfoque fenomenológico. Se realizaron entrevistas en profundidad a 16 madres y de éstas emergieron temáticas relevantes tales como las diferencias culturales sobre la maternidad y crianza, las condiciones de vida, sus experiencias en el parto, y finalmente lo que significa ser madre es en un país diferente al suyo. Estos hallazgos permiten tener un mejor entendimiento sobre este fenómeno y podría facilitar el desarrollo de estrategias que favorecerían una maternidad respetuosa y multicultural en las unidades de neonatología.

Resumo Os processos de migração são um fenômeno global que pode resultar em condições de vida mais vulneráveis. Perante estas condições, torna-se relevante prestar o apoio necessário às famílias em situação de migração, em que alguns momentos críticos para isso são a gravidez, o nascimento e a criança. É assim que as mulheres migrantes vivenciam a maternidade em um contexto cultural diferente e, dadas as condições desfavoráveis ​​de vida, podem enfrentar dificuldades na gravidez, como o parto prematuro, o que pode representar uma experiência traumática e estressante. São poucos os estudos que abordam essas questões na América Latina e, com isso, o objetivo deste estudo é descrever as experiências de mães migrantes com um filho ou filha prematuro internado numa unidade hospitalar de neonatologia. Foi utilizada uma metodologia qualitativa com abordagem fenomenológica. Foram realizadas entrevistas em profundidade com 16 mães, emergindo questões como diferenças culturais sobre a maternidade e a criança, as condições de vida, as suas experiências no parto e, finalmente, o que significa ser mãe num país diferente do seu. Esses achados permitem uma melhor compreensão desse fenômeno e podem facilitar o desenvolvimento de estratégias que favoreçam uma maternidade respeitosa e multicultural nas unidades neonatais.

Abstract Migration processes are a global phenomenon that can result in more vulnerable living conditions. Given these conditions, it is relevant to provide the necessary support for families in a situation of migration, in which pregnancy, childbirth, and child-rearing are some of the critical moments. This is how migrant women experience their motherhood in a different cultural context. Given the unfavorable living conditions, they may face difficulties in pregnancy such as premature birth, which could represent a traumatic and stressful experience. Few studies address these issues in Latin America and that is why the objective of this study is to describe the experiences of migrant mothers with a preterm son or daughter hospitalized in a neonatal unit. A qualitative methodology with a phenomenological approach was used. In-depth interviews were conducted with 16 mothers emerging relevant issues emerged such as cultural differences about motherhood and parenting, living conditions, their experiences in childbirth, and finally what it means to be a mother is in a different country than theirs. These findings allow a better understanding of this phenomenon and could facilitate the development of strategies that would promote respectful and multicultural motherhood in neonatal units.

Interacciones entre las madres y sus bebés prematuros durante el período de hospitalización / Interações entre mães e seus bebês prematuros durante o período de hospitalização / Interactions between mothers and their premature babies during the hospitalization period

Resumen Introducción Hay varios factores que se relacionan con la mayor susceptibilidad de los infantes de pretérmino de presentar dificultades en su desarrollo, tales como el efecto de la inmadurez neurológica, y la temprana separación de sus padres. La Organización Mundial de la Salud plantea la necesidad de fortalecer el rol de los padres y brindar mayores espacios de interacción. Objetivo El presente estudio busca conocer cómo las madres viven las primeras interacciones entre ellas y sus bebés prematuros durante la hospitalización. Método Para poder responder al objetivo de esta investigación se utilizó una metodología cualitativa con un enfoque fenomenológico. La recolección de datos se hizo a través de entrevistas en profundidad a 11 madres, las cuales luego fueron analizadas a través de la técnica de Análisis de Contenido. Resultados Las madres nos compartieron información respecto a cómo vivenciaron ellas sus primeros contactos con sus bebés y la relevancia que le fueron dando a estas interacciones, y por otro lado, ellas enfatizaron en cómo el contexto podría limitar estos espacio de relación. Conclusion en este estudio se pudo evidenciar la necesidad de las madres de interactuar con sus bebés durante la hospitalización, lo que tendría efectos positivos para ambos, lo que remarca la necesidad de que los equipos de salud promuevan una atención centrada en la familia.

Resumo Introdução Existem vários fatores relacionados ao aumento da suscetibilidade de prematuros ao desenvolvimento, tais como o efeito da imaturidade neurológica e a separação precoce de seus pais. A Organização Mundial de Saúde declara a necessidade de fortalecer o papel dos pais e proporcionar maiores espaços de interação. Objetivo O presente estudo busca conhecer como as mães vivem as primeiras interações com os seus bebês prematuros durante a internação. Método Para atender ao objetivo desta pesquisa, foi utilizada uma metodologia qualitativa com abordagem fenomenológica. A coleta de dados foi realizada por meio de entrevistas em profundidade com 11 mães, as quais foram analisadas pela técnica de Análise de Conteúdo. Resultados As Mães compartilharam informações sobre como experimentaram seus primeiros contatos com os bebês e a relevância que estavam dando a essas interações e, por outro lado, enfatizaram como o contexto poderia limitar esses espaços de relacionamento. Conclusão Neste estudo, foi possível demonstrar a necessidade das mães interagirem com seus bebês durante a internação, o que traria efeitos positivos para ambas, destacando a necessidade das equipes de saúde promoverem o cuidado centrado na família.

Abstract Introduction Several factors are related to the increased susceptibility of preterm infants to develop difficulties in their development, such as the effect of neurological immaturity, and the early separation of their parents. World Health Organization raises the need to strengthen the role of parents and provide greater spaces for interaction. Objective The present study seeks to know how mothers live the first interactions between them and their premature babies during hospitalization. Method To meet the aim of this research, a qualitative methodology with a phenomenological approach was used. Data collection was done through in-depth interviews with 11 mothers, which were then analyzed through the Content Analysis technique. Results The Mothers shared information about how they experienced their first contacts with their babies and the relevance they were giving to these interactions, and on the other hand, they emphasized how the context could limit these relationship spaces. Conclusion In this study, it was possible to demonstrate the need for mothers to interact with their babies during hospitalization, which would have positive effects for both, highlighting the need for health teams to promote family-centered care.

The Role of Perinatal Anxiety and Depression in Breastfeeding Practices.

Objective: Maternal mental health difficulties are common during the perinatal period and have a negative impact on breastfeeding practices. Most research has focused on the role of postpartum depression, whereas maternal anxiety has been less studied, despite its high prevalence. A better understanding of the mental health variables that impact breastfeeding practices is necessary to support maternal and infant health and well-being. The aim of this study is to explore the association between breastfeeding practices and maternal mental health, with an emphasis on maternal anxiety. Materials and Methods: Two hundred twenty-nine women were followed from the third trimester of gestation to 3 and 6 months postpartum. The participants provided self-reports of depression, anxiety, and breastfeeding practices. Mental health symptoms were compared between participants who reported exclusive versus mixed breastfeeding at 3 months postpartum, and between mothers who maintained breastfeeding versus those who had weaned their infants at 6 months postpartum. Logistic regression analysis was used to explore the variables contributing to breastfeeding practices. Results: High levels of depressive symptoms during pregnancy were associated to nonexclusive breastfeeding at 3 months postpartum. At 3 months postpartum, both high levels of anxiety and depression were associated with nonexclusive breastfeeding at that time. Logistic regression analyses revealed that exclusive breastfeeding at 3 months postpartum predicted breastfeeding continuation at 6 months after childbirth. Conclusion: Both maternal depression and anxiety negatively impact breastfeeding practices. Early identification of maternal mental health problems during the perinatal period is relevant to promote maternal emotional well-being and to prevent breastfeeding difficulties.

Enfoque desde la violencia perinatal: visita del padre a su hijo prematuro durante su hospitalización / Approach from gender-based violence in the perinatal period: a father's visit to his premature infant during hospitalization

Resumen Este trabajo reflexiona sobre la participación del padre en las unidades de neonatología, comprendiendo que ser padre/madre de un recién nacido pretérmino es complejo, estresante y puede llenar de temores, ansiedad e incertidumbre. En el contexto actual, se tiende a recargar el rol de cuidado en la madre, lo que limita las oportunidades de participación del padre. El análisis se centra en las experiencias del servicio de neonatología de un hospital de Santiago de Chile, Chile, y en una revisión de la literatura sobre el papel de los padres y su participación en este contexto.

Abstract This paper reflects on the role of fathers in neonatal care units, bearing in mind that being the parent of a premature infant is complex, stressful, and become a source of fear, anxiety and uncertainty. In the current context, mothers are usually given the role of caregivers, limiting opportunities for father involvement. This analysis focuses on the experiences of the neonatal care service of a hospital in Santiago de Chile, Chile, and on a literature review about fathers and their role in this context.

Control esforzado: componente regulatorio del temperamento y sus implicancias en el desarrollo socio emocional de los niños / Effortful control: temperament's regulatory component and its implications in the socioemotional development in children

El modelo de temperamento de Mary Rothbart, nos da un sustento teórico para comprender cómo el control esforzado favorece los procesos de regulación en los niños/niñas. Esta habilidad va marcando cómo el infante se va relacionando con el medio y con los diversos desafíos que éste le presenta. Por lo tanto, el presentar un desarrollo adecuado del control esforzado, le permitiría al infante adaptarse con mayor facilidad a los cambios que se van produciendo de manera constante en el contexto que se desarrolla. Dada la relevancia del control esforzado, es que el objetivo de este trabajo es mostrar una revisión teórica de este constructo, su desarrollo y sus implicancias en el desarrollo socioemocional de los niños.

Mary Rothbart's temperament model, gave as a theoretical background for the understanding of the effortful control implications in the regulatory process in children. This skill shapes the way infants relate to their environment and with different challenges that this present. For this reason, an adequate development of effortful control, allows the infants to adapt in a better way to the changes that emerges constantly in their context. Given the relevance of effortful control, is that the aim of this work is to present a theoretical review of this construct, its development and its implications in the children's socioemotional development.