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Textbook of Rare Sexual Medicine Conditions
This textbook aims to provide the reader with knowledge and skills on rare sexual medicine conditions. The aim is to increase awareness in healthcare...
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Robotic Procedure for Rare Rectal Conditions: GIST and Tailgut Cysts
Tailgut cysts and rectal gastrointestinal stromal tumors (GIST) are rare rectal tumors found in the retrorectal space. Tailgut cysts are congenital...
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QALYs and rare diseases: exploring the responsiveness of SF-6D, EQ-5D-5L and AQoL-8D following genomic testing for childhood and adult-onset rare genetic conditions in Australia
BackgroundGenomic testing transforms the diagnosis and management of rare conditions. However, uncertainty exists on how to best measure genomic...
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Factors affecting overall care experience for people living with rare conditions in the UK: exploratory analysis of a quantitative patient experience survey
BackgroundAlthough individually rare, collectively, rare conditions are common and affect a large number of people and are often chronic, life...
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Whole-exome sequencing of individuals from an isolated population under extreme conditions implicates rare risk variants of schizophrenia
Schizophrenia (SCZ), which affects approximately 1% of the world’s population, is a global public health concern. It is generally considered that the...
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Experiences of parents of children with rare neurogenetic conditions during the COVID-19 pandemic: an interpretative phenomenological analysis
BackgroundThe Coronavirus disease 2019 (COVID-19) pandemic has impacted parental and child mental health and wellbeing in the UK. This study aimed to...
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Disease Models for Rare Genetic Disorders
Rare diseases pose complex challenges to individuals, families, and the healthcare system. Collaborative research efforts are essential to improving...
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The experience of caregiving for children with rare musculoskeletal conditions: a qualitative study in arthrogryposis multiplex congenita
BackgroundArthrogryposis multiplex congenita (AMC) is a group of rare musculoskeletal conditions that is associated with complex healthcare needs and...
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Caregiving Interactions and Behaviors in the Care of Children with Rare Genetic or Undiagnosed Conditions
Previous literature documented that interpersonal strain arising from caregiving roles can negatively impact caregivers’ health and well-being, and...
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Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions
Genome-wide sequencing and genetic matchmaker services are propelling a new era of genotype-driven ascertainment of novel genetic conditions. The...
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Effect of Rare Earth Elements Addition and Sintering Conditions on the Microstructure and Microhardness of Inconel 718
A series of Inconel 718 alloys modified by additions of 0.1-0.3 of a mixture of rare earth elements Ce:La:Nd:Pr have been synthesized by powder...
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Rare-earth elements geochemistry of the Palaeocene Ewekoro Formation, southwestern Nigeria: implications for terrigenous inputs, diagenetic alteration, palaeoredox and depositional conditions
The freshly exposed carbonate rock succession of the Ewekoro Formation (Palaeocene) was investigated to interpret its palaeoredox conditions and...
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Introduction to Rare Genetic Disorders
Rare genetic disorders are a group of diseases that are caused by changes in a person’s genes. These changes can be inherited from parents or occur...
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Geochemistry of Kuldhar Member Limestone (Callovian–Oxfordian), Jaisalmer Basin, western Rajasthan, India: implications on depositional conditions and sources of rare earth elements
The present study examines the distribution of major and rare earth elements (REEs) in the Kuldhar Member Limestone (KML), Jaisalmer Formation,...
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Rare Earth Oxides in Microelectronics
A feasibility study of rare earth oxides for replacing SiO2 gate oxide for CMOS integrated circuits has been conducted. Rare earth oxides have...
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Rare Paediatric Diseases
Children’s self-determination and best interests in their decision-making capacity are still challenging issues. This area is even more difficult for...
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Rare Genetic Dyslipidemia
Our focus in this chapter is to present some of the rare genetic lipid disorders in the pediatric patients. These include sitosterolemia,...
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Rare neurodevelopmental conditions and parents’ mental health – how and when does genetic diagnosis matter?
BackgroundParents of individuals with rare neurodevelopmental conditions and intellectual disabilities (ID) are vulnerable to mental health...
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Collateral Child and Parent Effects of Behavioral Sleep Interventions for Children with Rare Genetic Neurodevelopmental Conditions
ObjectivesThis study, following Woodford et al. (
2024 ), investigated the collateral child and parent effects of function-based behavioral sleep...