Turk J Med Sci
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We still do not know the cause(s) of Behçet syndrome. Most probably several, separate disease mechanisms are involved. I, like some others, propose we call it not a disease but a syndrome, a construct with a list of strong and weak elements. I like to think that this frank admission of our ignorance of its cause(s) will be an important semantic stimulus for more meaningful research.
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Immunoglobulin G4-related disease (IgG4-RD), is an immune-mediated fibroinflammatory condition, which may involve multiple organs and mostly presents with high serum IgG4 levels and specific histopathological characteristics. As IgG4-RD is a relatively new entity the etiology, prevalence and epidemiologic knowledge is quite limited. Although involvement of almost all anatomical regions has been reported, the most commonly affected regions are pancreas, lacrimal glands, salivary glands, retroperitoneum, orbita, lymph nodes, kidney and lungs. Diagnosis is made with combined evaluation of clinical, radiological and histopathological findings. Typical histopathological features include storiform fibrosis, dense lymphoplasmacytic infiltrates and obliterative phlebitis. Its course is typically marked by remission and relapsing attacks and it may lead to fibrosis, destructive lesions in tissues and organ failure unless promptly treated. In the treatment of IgG4-RD, many approaches including surgical resection of tissues, systemic glucocorticoids, steroid-sparing immunosuppressive drugs, and biological agents are employed. Although association is not clear, malignancies are frequently reported in IgG4-RD patients. Therefore, it is prudent to monitor patients for the symptoms of malignant diseases. ⋯ In this review, recent advances in clinico-pathological characteristics, diagnosis, and treatment of IgG4–RD are discussed.
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Tuberous sclerosis complex (TSC) is an autosomal dominant, multisystem disorder that is characterized by cellular and tissue dysplasia in several organs. With the advent of genetic and molecular techniques, mutations in the TSC1 or TSC2 genes were discovered to be responsible for mTOR overactivation, which is the underlying mechanism of pathogenesis. TSC is a highly heterogenous clinical entity with variable presentations and severity of disease. ⋯ The TAND checklist is a useful tool for routine use in the clinical evaluation of TSC patients. A multidisciplinary treatment plan, based on the specific problems and needs of individuals, is the key to management of this genetic condition. Ongoing research studies have been providing promising leads for developing novel mechanistic strategies to address the pathophysiology of TSC.
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Migraine is a multifaceted brain disorder where multisensory disturbances are associated with headache. Yet sensory symptoms are conventionally justified by dysfunctions confined to the cerebral cortex, a perspective through the complex interplay of thalamocortical network would provide the entire picture, more pertinent to the central sensory processing. ⋯ Accordingly, cortical spreading depression (CSD), implicated in migraine pathophysiology can be seen as a tool to disconnect thalamocortical network by functionally eliminating cerebral cortex. Hence, including thalamic reticular nucleus and higher order thalamic nuclei, which conveys the information transthalamically among visual, somatosensory, language and motor cortical areas, would greatly improve our current understanding of migraine.
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A fracture that does not unite in nine months is defined as nonunion. Nonunion is common in fragmented fractures and large bone defects where vascularization is impaired. The distal third of the tibia, the scaphoid bone or the talus fractures are furthermore prone to nonunion. ⋯ BMP family, as the biggest subfamily of TGFβ superfamily, is also reported to be the most effective growth factors in bone and development, which makes them one of the most popular cytokines used in bone regeneration. Complications depending on the excess use of growth factors, and pleiotropic functions of BMPs are however the main reasons of why they should be approached with care. In this review, the Smad dependent signaling pathways of TGFβ and BMP families and their relations and the applications in preclinical and clinical studies will be briefly summarized.