سبد خرید

Histiocytic Disorders

The “histiocytoses” have been a collective description of tissue proliferations of the hematopoietic-derived cells that compose both the monocyte-macrophage and the dendritic cell families. Our understanding of histiocytic disorders has evolved from the frst classifcation published by the Histiocyte Society (HS) Working Group in 1987 that included disorders of Langerhans cells (LC), non-Langerhans cell related, and the malignant histiocytoses (MH) . A more contemporary classifcation was laid out in 1997 by the World Health Organization (WHO) Committee on Histiocytic/Reticulum Cell Proliferations and the Histiocyte Society Reclassifcation Working Group (Table 1.1) . These classifcations were based on biologic behavior and histopathology, including dendritic cell related (e.g., Langerhans cell histiocytosis (LCH), juvenile xanthogranuloma (JXG) family), macrophage related (e.g., hemophagocytic syndromes, Rosai-Dorfman disease (RDD)), and malignant disorders, typically grouped by their most common morphologic/immunophenotypic counterpart. The histology together with the clinical features and stage of involvement had resulted in a unifying clinicopathologic diagnosis in most cases . However, the feld of histiocytic disorders is now within an era of “molecular enlightenment.” New molecular data are emerging that support the theory that LCH and Erdheim-Chester disease (ECD) (and possibly also systemic JXG lesions with gain of function mutations) are best classifed as inflammatory myeloid neoplasms .

Protein Folding Disorders of the Centeral Nervous System

Protein misfolding disorders are an emerging complex group of chronic and progressive entities driven by structural transitions in the native state of specific proteinaceous components and the generation of polymeric aggregates that assemble into poorly soluble tissue deposits. In all these disorders, through mechanistic pathways still poorly understood, soluble proteins normally found in biological fluids change their conformation and form insoluble structures that accumulate as intra- and extracellular aggregates or as fibrillar deposits. The group comprises a wide range of diseases encompassing disorders that are either (i) localized to the central nervous system (CNS) and particularly associated with cerebrovascular compromise, neuronal vulnerability, and neurodegeneration; (ii) restricted to other individual organs, where their presence correlate with a specific organ dysfunction(s), e.g. the pancreas in type II diabetes or the heart in familial amyloidotic cardiomyopathy; or (iii) affecting multiple organs, as in the case of systemic amyloidosis. The group of disorders affecting the CNS, which is the focus of this book, is quite heterogeneous and, as illustrated in Table 1.1, includes conditions with dissimilar clinical manifestations — ranging from cognitive decline and dementia to severe motor deficits or to recurrent episodes of cerebral hemorrhage — as well as disease-specific pathology .

Disorders of the Scapula and Their Role in Shoulder Injury

Ideal scapular function reflects its complex anatomy and in turn is foundational for all shoulder function. The scapula plays a multitude of roles. Anatomically, it is the “G” of the glenohumeral (GH) joint and the “A” of the acromioclavicular (AC) joint. Physiologically, it is the “S” of scapulohumeral rhythm (SHR), the coupled and coordinated movement between the scapula and arm that allows the arm to be placed in the optimum position and motion to accomplish tasks. Biomechanically, it provides a stable base for muscle activation, a moving platform to maintain ball-and-socket kinematics, and an effcient link between the core, which develops force, and the arm, which delivers the force. Critical to these roles is normal scapular motion. To comprehend the complex biomechanics of the scapula, it is critical to have a deep knowl edge of the anatomy. It is not surprising that all types of shoulder pathology demonstrate altered motion. Frequently, assessment of scapular muscular attachments, innervation, motion, and position can provide key information on treatment options and guide rehabilitation. This chapter will concisely address pertinent aspects of anatomy of the scapula as it pertains to normal scapular function and clinical implications.

Systemic Fibroinflammatory Disorders

Fibro-inflammatory disorders (FIDs) are a group of rare heterogeneous diseases dominated by inflammation and fbrosis and are frequently considered to be autoimmune conditions. FIDs may cause early mortality, organ failure, and chronic morbidity. The causes of FIDs are unknown; they may be considered multifactorial diseases, because multiple genetic factors, combined with several environmental factors, influence susceptibility to their development and modulate their phenotypes. Ethnicity affects some types of FIDs, in fact several studies describe differences in disease incidence and phenotypes across populations. In this chapter, genetic aspects of FIDs will be discussed.

Temporomandibular Disorders

The temporomandibular joint (TMJ) is the most unique and complex joint in the body. The anatomy of the TMJ varies among mammals depending upon masticatory requirements. Masticatory system function demands that the mandible be capable not only of opening and closing but also of forward, backward, and lateral movements and combinations thereof. In humans, the TMJ is described as a ginglymoarthrodial type of diarthrotic joint. This means that it is not only capable of rotation (movement around a single axis) but also translation (movement around more than one axis at a time). This chapter will provide a review of the growth and development of structures of the masticatory system with special emphasis upon the osseous components.

Orofacial Disorders

Leukoplakia is primarily a clinical term for a predominantly white lesion that cannot be wiped off and that cannot be characterized as any other defnable white lesion of the oral mucosa. It is the most common premalignant lesion of the oral mucosa. A premalignant or potentially malignant lesion is a lesion that carries a signifcantly increased risk of transforming into cancer. Some prefer to refer to leukoplakia as a disorder instead of a lesion since cancer development may not only occur in or adjacent to the leukoplakic area but also elsewhere in the oral cavity or the headand-neck region.

Hematological Disorders in Children

Hematopoietic stem cells (HSCs), which are responsible for producing all blood cell types, frst appear in the early stage of embryonic development and transit through several different tissues, including the yolk sac, aorta-gonadmesonephros (AGM) region, placenta, and fetal liver, before colonizing in the bone marrow where they reside throughout the individual’s life. HSCs, characterized by the ability to self-renew and generate all types of blood cells, are supported by their specifc environment called niches and depend on many developmental signaling pathways, molecules, and cytokines for their generation, maintenance, and expansion. Any disruption in this well-balanced system may cause aberrant HSC production, leading to malignant hematopoiesis. Leukemic stem cells (LSCs), originally identifed using xenograft models of acute myeloid leukemia (AML), are a distinct cell population that can initiate leukemia in immunodefcient mice. LSCs are thought to emerge from HSCs or hematopoietic progenitors after obtaining multiple genetic changes that provide aberrant growth advantage and self-renewal ability. The emergence of LSCs is a multi-step event, including genetic diversifcation and clonal selection, resulting in genetic heterogeneity among leukemic cells. LSCs generally exist in the immature CD34+CD38- leukemic population in most cases of AML and share some features with normal HSCs. However, recent studies have shown that in acute lymphoblastic leukemia (ALL), LSCs exist in B-lineagecommitted progenitors expressing CD19. In contrast to that in AML, in which LSCs generate leukemic cells in a hierarchical order with LSCs at the top, leukemia propagation in ALL is better explained by a stochastic model.

Bedside Approach to Autonomic Disorders

Disorders of the autonomic nervous system (ANS) are often a severe burden to the quality of life of our patients (e.g., orthostatic intolerance, sweating disorders, sexual dysfunction). In some ases, they may be harmful (syncope with falls, heatintolerance, urinary retention) or even life threatening (sudden cardiac death, sympathetic storm, heat shock). Diagnosis of ANS disorders is still underrepresented, despite their common occurrence in clinical practice. This may be attributed at leastin part to a lack of awareness and attention to symptoms of ANS dysfunction. Information on the ANS is rare in many neurological textbooks and often missing during education. This booklet shall help to recognize the presence and distribution of autonomic dysfunctions and provide tips for further management. The clinical investigations of autonomic functions presented here refer to the offce, bedside, or prelaboratory evaluation. It cannot and shall not replace any textbook in this growing, neurological feld.

Tutorials in Patellofemoral Disorders

A 13-year-old boy presents to the clinic with gradual onset of lef anterior knee pain, particularly associated with sport, worsening over the previous 6 months. He is otherwise ft and well and plays football. It does not really limit what he does, but it does ache aferwards. On examination the only abnormal fnding was a lateral-tomedial movement of the patella at 20° of flexion .It was felt that some VMO strengthening exercises would improve his symptoms. He was referred to physiotherapy .? Question 1 What is the most likely diagnosis ?? Question 2 What is its natural history ?? Question 3 What in the history and examination would suggest further investigations should be requested? ? Question 4 What diagnoses should be considered and what further investigations specifc for each ?At the age of 15 years old, he was admitted via the Emergency Department following a twisting injury to his lef knee playing soccer. He had immediate swelling and was unable to weight-bear on the leg. ? Question 5 What is the most likely diagnosis? Examination on the ward found that his knee was swollen. He could flex the knee comfortably to 450 but was unable to extend actively because of discomfort. Palpating the extensor mechanism showed that it was intact. He had “some” tenderness on the anterior part of the medial tibiofemoral joint line. He was tender over the medial retinacular ligament. Te ACL was noted to be normal.

Neurorehabilitation for Central Nervous System Disorders

A CVA is a very serious and sudden occurrence. This is thus a specifc symptom of this CNS disorder, in contrast to dementia, Parkinson’s, and MS, which are characterized by their progressive course. Over the last few decades, the care for CVA patients has improved enormously, and much expertise has been gained in terms of insights into the impairments that result from a CVA. The experience thus gained can be transposed to the other CNS disorders described in this book. There are, namely, many commonalities, and this provides the opportunity to place neurorehabilitation in a broader perspective. This chapter lists the symptoms that may be an indicator for the occurrence of a CVA, which is followed by the description of the symptomatology after a cerebrovascular accident (CVA). Given that patients are permitted direct access to physiotherapy in the Netherlands, the physiotherapist must be able to recognize symptoms at an early stage. This chapter also examines the causes and risk factors of a CVA. When these are recognized, it is possible to take specifc actions that reduce the chance of a CVA.

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