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Rare compound heterozygous mutations in gene MSH6 cause constitutive mismatch repair deficiency syndrome
Key Clinical Message Few studies reported patients who harbored three kinds of primary tumors simultaneously. Here, we present a 9‐year‐old boy with colon carcinoma, brain medulloblastoma, and lymphoma. Genetic mutation detection was explored with next‐generation sequencing, and compound heterozygous mutations in gene MSH6 c.3103C>T p.Arg1035Ter and c.3261dupC p.Phe1088LeufsTer were discovered. Few studies reported patients who harbored three kinds of primary tumors simultaneously. Here, we present a 9‐year‐old boy with colon carcinoma, brain medulloblastoma, and lymphoma. Genetic mutation detection was explored with next‐generation sequencing, and compound heterozygous mutations in gene MSH6 c.3103C>T p.Arg1035Ter and c.3261dupC p.Phe1088LeufsTer were discovered.
Journal Article
Educational Provision for Children with Autism and Asperger Syndrome
The range of educational options available to a child with Autism and Asperger syndrome is broad, but choosing the right path can often be a complex task for all involved. This book provides information and advice for professionals and parents making crucial decisions about meeting the needs of children with autistic spectrum disorder. It covers the range of intellectual ability from those having severe learning difficulties to those of above average intelligence. Practical advice for those working with children from preschool to post-16 is given on: choosing the most appropriate educational placement; making decisions on which educational interventions to follow; creating an effective educational environment; working with staff and other children to maximum effect; writing effective individual education plans; working with parents and families; enabling a smooth transition between classes and stages of education; and life beyond school.
eBook
Creative expressive activities and Asperger's syndrome : social and emotional skills and positive life goals for adolescents and young adults
Individuals with Asperger's Syndrome (AS) benefit from a positive, affirming support of their individuality. This forward-looking book focuses on building individual strengths and resilience, rather than modifying perceived weaknesses, through individualized therapy within a group context.
Integrating psychological and educational theory with a variety of creative therapies, Judith Martinovich combines activities such as art making, drama, music, puppetry, yoga and photography with conventional cognitive behavioral interventions to support individuals with AS. The different activities complement and reinforce each other and are designed to address specific traits of the autism spectrum to aid skills development. Although created primarily for use with adolescents and young adults, the practical and versatile activities can be adapted for different age and skill levels, objectives and settings. Informed by contemporary research, they meet the objectives of a framework of principles drawn from Positive Psychology and Social and Emotional Learning. Creative Expressive Activities and Asperger's Syndrome is a comprehensive resource for parents as well as teachers, social workers, psychologists and arts therapists who wish to link therapeutic goals with creative activities for people with or without Asperger's Syndrome.
eBook
Recurrent macrophage activation syndrome due to hyperimmunoglobulin D syndrome: a case-based review
Hyperimmunoglobulin D syndrome (HIDS) is a hereditary autoinflammatory disease characterized by recurrent inflammatory attacks with fever, abdominal pain, lymphadenopathy, aphthous stomatitis, and skin lesions. There are few reports on HIDS patients complicated with macrophage activation syndrome (MAS); however, to our knowledge, there is no case of HIDS with recurrent MAS attacks. We report two pediatric patients initially diagnosed as Kawasaki disease and systemic juvenile idiopathic arthritis presented with recurrent MAS episodes with prolonged fever, skin rash, hepatosplenomegaly, cervical lymphadenopathy, aphthous stomatitis, headache, pancytopenia, hyperferritinemia, and hypofibrinogenemia, finally diagnosed as HIDS with a documented homozygous MVK gene mutation. This is the first report on recurrent MAS attacks due to HIDS in pediatric patients who were successful treated with corticosteroids and anti-IL-1 therapies. Thus, clinicians should be vigilantly investigated signs of autoinflammatory diseases in patients with recurrent MAS attacks during their disease course, and HIDS should be considered an underlying disease for triggering recurrent MAS attacks. We have also reviewed the current literature regarding HIDS cases complicated with a MAS attack and summarized their demographic, treatment, and outcome characteristics.Key points• Hyperimmunoglobulin D syndrome should be considered in differential diagnosis in patients who experienced recurrent macrophage activation syndrome attacks.
Journal Article
Syndrome d’antidiurèse inappropriée néphrogénique
Les troubles de l'équilibre de l'eau représentent une pathologie fréquente dans notre pratique clinique. L'étude du récepteur V2R est importante pour la compréhension de la physiologie de l'équilibre hydrique et a servi de prototype pour la biologie des récepteurs G couplés aux protéines. Le syndrome d'antidiurèse inappropriée néphrogénique (NSIAD) est un syndrome de sécrétion inappropriée d'hormone antidiurétique (SIADH)-like avec un dosage plasmatique de vasopressine bas. La preuve du rôle du récepteur V2R et de l'aquaporine (AQP) dans le mode d'action de l'hormone antidiurétique (ADH) est venue de l'identification de mutations dans les gènes de ces protéines dans le diabète insipide néphrogénique et dans le syndrome NSIAD. Des mutations activatrices du V2R ont été retrouvées dans le NSIAD, à l'opposé des nombreuses mutations inactivatrices du V2R liées à l'X décrites dans le diabète insipide néphrogénique.
Journal Article
Autoimmunity in Primary Immunodeficiency Disorders: An Updated Review on Pathogenic and Clinical Implications
During the last years, studies investigating the intriguing association between immunodeficiency and autoimmunity led to the discovery of new monogenic disorders, the improvement in the knowledge of the pathogenesis of autoimmunity, and the introduction of targeted treatments. Autoimmunity is observed with particular frequency in patients with primary antibody deficiencies, such as common variable immunodeficiency (CVID) and selective IgA deficiency, but combined immunodeficiency disorders (CIDs) and disorders of innate immunity have also been associated with autoimmunity. Among CIDs, the highest incidence of autoimmunity is described in patients with autoimmune polyendocrine syndrome 1, LRBA, and CTLA-4 deficiency, and in patients with STAT-related disorders. The pathogenesis of autoimmunity in patients with immunodeficiency is far to be fully elucidated. However, altered germ center reactions, impaired central and peripheral lymphocyte negative selection, uncontrolled lymphocyte proliferation, ineffective cytoskeletal function, innate immune defects, and defective clearance of the infectious agents play an important role. In this paper, we review the main immunodeficiencies associated with autoimmunity, focusing on the pathogenic mechanisms responsible for autoimmunity in each condition and on the therapeutic strategies. Moreover, we provide a diagnostic algorithm for the diagnosis of PIDs in patients with autoimmunity.
Journal Article
Stiehm's Immune Deficiencies
Stiehm's Immune Deficiencies: Inborn Errors in Immunity, Second Edition, is ideal for physicians and other caregivers who specialize in immunology, allergies, infectious diseases and pulmonary medicine.
eBook
Management of Mevalonate Kinase Deficiency: A Pediatric Perspective
Mevalonate kinase deficiency (MKD) is an inborn error of metabolism leading to a syndrome characterized by recurrent inflammation. This clinically manifests itself as fever and can be accompanied by gastrointestinal symptoms, oral ulcers, cervical lymphadenopathy, and skin rash.
We searched Pubmed, Embase, Cochrane, and CINAHL for relevant articles. All articles were screened by both authors. Relevant articles were included in this review.
The interleukin-1 antagonist canakinumab is the only well-studied and effective treatment for MKD patients with 35% of patients reaching complete remission in a large randomized controlled trial. Other therapeutic options include glucocorticoids and the IL-1 antagonist anakinra, although the level of evidence for these treatments is weaker. If patients fail to these treatments, the biologicals etanercept or tocilizumab can be used. Mildly affected patients might benefit from cheaper, less invasive treatments such as paracetamol and NSAIDs.
Canakinumab is the only evidence-based treatment for mevalonate kinase deficiency. However, the costs limit availability for many patients. Cheaper and more readily available options include glucocorticoids, anakinra, etanercept, and tocilizumab, although there is limited evidence supporting these treatments.
Journal Article
