1,121 results match your criteria: "CHILD Syndrome"

Cultural and religious structures influencing the use of maternal health services in Nigeria: a focused ethnographic research.

Reprod Health

December 2024

College of Nursing, University of Saskatchewan, Health Science Building - 1A10, 107 Wiggins Road, Box 6, Saskatoon, SK, S7N 5E5, Canada.

Background: Cultural and religious structures encompass a set pattern of values, beliefs, systems and practices that define a community's behaviour and identity. These structures influence women's health-seeking behaviour and access to maternal health services, predisposing women to preventable maternal health complications. However, most maternal health policies have focused on biomedical strategies, with limited attention to women's cultural challenges around childbirth.

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A 4-year-old female with Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects (CHILD) syndrome, with a pathogenic variant of the NSDHL gene, c.130G>A (p.Gly44Ser), and unilateral right-sided erythematous verrucous plaques with scaling and ipsilateral limb defects, was started on 5% simvastatin ointment.

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[Only a wart?-Characteristic skin changes in CHILD syndrome].

Dermatologie (Heidelb)

October 2024

Klinik und Poliklinik für Dermatologie und Allergologie, Klinikum der Universität München, LMU München, Frauenlobstr. 9-11, 80337, München, Deutschland.

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Article Synopsis
  • - Parental mental health is considered crucial for the well-being of both parents and infants, acting as a "sixth vital sign" that should be prioritized in clinical settings.
  • - Despite existing guidelines for the screening and treatment of perinatal mood and anxiety disorders (PMADs), these practices are often inconsistently implemented and tend to offer limited support.
  • - The article discusses the negative impacts of PMADs on families and suggests quality improvement strategies to enhance screening and treatment referral processes for affected parents.
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Hyperkeratotic Nodule on the Knee in a Patient With KID Syndrome.

Cutis

March 2024

Peichi Chou is from the School of Medicine, University of California, Riverside. Drs. Lee and Elsensohn are from the Department of Dermatology, Loma Linda University, California.

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  • A study in Poland explored the experiences of 32 caregivers of children with Williams syndrome (WS), revealing significant challenges they face in daily life.
  • Caregivers reported issues such as managing their child's behaviors and health, leading to fatigue, mental health decline, and difficulties in personal relationships.
  • Despite acknowledging positive aspects of raising a WS child, many parents experienced role overload and a lack of support from the healthcare system, impacting their overall well-being and social life.
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  • - The practice of hurrying children through education, known as hurried child syndrome, is a significant social issue in Nigeria, particularly in Ebonyi State, affecting children's development and well-being.
  • - Factors contributing to this syndrome include weak educational policies, a rise in private schools, and the busy lifestyles of parents who want to prepare their children quickly for the future.
  • - The study highlights that hurried children often face serious psychological issues like depression and anxiety due to high parental expectations, suggesting a need for public awareness and policy reform to mitigate these negative effects.
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  • * This condition enables specific therapies, such as metastasis-directed therapy (MDT), which focuses on eradicating limited metastases while delaying more aggressive systemic treatments.
  • * The review examines evidence for different MDTs, including radiotherapy for low-volume metastasis and the use of PSMA ligands, and highlights the need for further research on this evolving disease state.
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  • Genodermatoses are rare genetic skin disorders that can severely affect an individual's health and may result in early mortality due to their multiorgan involvement.* -
  • A systematic review of the literature focused on X-linked genodermatoses in pediatric males highlighted key conditions grouped by keratinization, pigmentation, and inflammatory issues, providing examples like dyskeratosis congenita and ichthyosis.* -
  • The review emphasizes the significance of genetic diagnosis and outlines the current landscape of clinical trials involving orphan drugs and gene therapy for these disorders, linking clinical assessments to molecular testing.*
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Arabidopsis 3β-Hydroxysteroid Dehydrogenases/C4-Decarboxylases Are Essential for the Pollen and Embryonic Development.

Int J Mol Sci

October 2023

State Key Laboratory for Conservation and Utilization of Subtropical Agro-Bioresources, College of Forestry and Landscape Architecture, South China Agricultural University, Guangzhou 510642, China.

Article Synopsis
  • The biosynthesis of C sterols from squalene involves the C24-alkylation process and the removal of three methyl groups, notably two from the C4 position.
  • A bifunctional enzyme called 3β-hydroxysteroid dehydrogenase/C4-decarboxylase (3βHSD/D) is essential for two specific demethylation reactions that impact growth and can lead to disorders in humans and yeast.
  • Using CRISPR/Cas9, researchers created knockout mutants in Arabidopsis to study two genes, discovering that these genes are crucial for male gametogenesis and embryogenesis, as their loss leads to pollen lethality.
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  • The World Health Organization emphasizes the importance of family involvement and support for preterm infants, pointing out that ignoring these aspects can lead to poor long-term outcomes for both the child and the parents.
  • The paper reviews the wide-ranging effects of preterm birth on parental health, highlighting that increased psychological stress can harm parent-child interactions and attachment styles.
  • It also discusses the long-term consequences for both preterm infants and their parents, including cognitive and mental health challenges for children, as well as increased rates of depression and anxiety in parents, which can strain relationships and affect parenting behaviors.
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  • The study focused on identifying (epi)genetic factors in children born small for gestational age (SGA) experiencing undiagnosed syndromic short stature, involving 29 selected cases from a syndromic SGA cohort.
  • Advanced genetic analysis techniques like chromosomal microarray and whole exome sequencing were used, leading to the detection of pathogenic variants and uniparental disomy in several patients.
  • The findings revealed a 55.2% diagnosis rate, introduced 15 rare syndromes linked to SGA, and identified novel genes and copy number variants (CNVs), highlighting the complexity and diversity of syndromic short stature.
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  • The study aimed to assess the outcomes of percutaneous bone-anchored hearing implant (BAHI) surgery in children with syndromic versus nonsyndromic conditions over a span of 13 years.
  • Researchers found that syndromic patients generally faced more complications, such as higher ASA scores, implant extrusions, and severe skin reactions post-surgery compared to nonsyndromic patients.
  • Despite these challenges, the overall stability of the implants was similar between the two groups, suggesting BAHI surgery remains a viable option for syndromic patients, albeit with added risks.
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  • Child hospitalization adversely affects the psychological well-being of both children and their parents, indicating a need for better support for families in medical settings.
  • This study, conducted with 156 parents in Indonesian pediatric wards, aimed to explore the relationship between parental psychological distress and child behavior problems.
  • Results showed that parental anxiety significantly predicted various behavior issues in hospitalized children, while parental depression did not appear to influence these behaviors, highlighting the importance of addressing parental anxiety to mitigate child behavior complications during hospitalization.*
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[Verrucous exophytic tumor of the glans penis].

Dermatologie (Heidelb)

March 2023

Universitäts-Hautklinik Tübingen, Eberhard-Karls-Universität, Liebermeisterstr. 25, 72076, Tübingen, Deutschland.

A 59-year-old man presented with a growing tumor on the glans penis, which we excised. Histologically, there was an acanthotic epidermis under which the papillary dermis was filled with foamy macrophages, best seen in a CD 68 stain. Verruciform xanthoma was diagnosed.

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Article Synopsis
  • CHILD syndrome is a rare genetic disorder linked to mutations in the NSDHL gene, primarily affecting females with specific physical defects, while causing lethal outcomes in males.
  • A study focused on a Chinese couple with repeated miscarriages of male embryos revealed a new mutation, c.790-6C>T, in the NSDHL gene during the woman's third pregnancy.
  • The findings suggest that this mutation may be linked to recurrent miscarriages in males and highlight the potential of whole-exome sequencing (WES) for identifying genetic causes in such cases.
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  • Vulnerable child syndrome (VCS) occurs when caregivers see their child as fragile, leading to overuse of healthcare services despite the child's actual medical needs.
  • Most literature on VCS is from developed countries, with limited research in less-resourced areas, which presents a different set of risks such as poor feeding practices and impacts from COVID-19.
  • Understanding VCS in diverse contexts can help healthcare providers working with immigrant families in the U.S. create strategies that promote resilience in parents instead of overwhelming concern for their child's health.
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