Thelansis

  Congenital recessive ichthyoses are a heterogeneous group of disorders characterized clinically by scaling of the skin and histologically by the presence of a thickened stratum corneum. Most mutations are found in the TGM1 gene encoding transglutaminase 1, involved in forming the epidermal cornified cell envelope. ABCA12 encodes an ATP-binding cassette (ABC) transporter, involved in lipid transport, and ALOX12B, ALOXE3, and CYP4F22 code, respectively, for arachidonate 12(R)-lipoxygenase, arachidonate lipoxygenase-3, and cytochrome P450 protein, all involved in lipid metabolism. Symptoms include abnormally red, dry, and rough skin with large or fine white scales. The scales' appearance can vary; in some forms, the scales are fine and white, while in others, the scales are dark and brown, separated by deep cracks. The skin is also irritated. The skin on the palms of the hands and the soles of the feet can be very thick. Other complications can arise from more severe cases of ichthy...

  Cardiogenic shock (CS) is a complex and highly morbid entity conceptualized as a vicious cycle of injury, cardiac and systemic decompensation, and further damage and decompensation. The primary insult is a reduction in myocardial contractility resulting in diminished cardiac output, hypotension, systemic vasoconstriction, and cardiac ischemia. The hallmark is peripheral vasoconstriction and vital end-organ damage, resulting from ineffective stroke volume and insufficient circulatory compensation. Compensatory peripheral vasoconstriction may initially improve coronary and peripheral perfusion. However, it contributes to increased cardiac afterload that overburdens damaged myocardium. This results in diminished oxygenated blood flow to peripheral tissue and the heart. Systemic inflammation causes pathological vasodilation, releasing nitric oxide synthase and peroxynitrite, which have cardiotoxic inotropic effects. Interleukins and tumor necrosis factor-alpha (TNF-a) are additional ...

  Axial spondyloarthritis (axSpA), which includes both ankylosing spondylitis (AS) and non-radiographic axial SpA, is the most common type of chronic inflammatory arthritis affecting the axial skeleton (AS). AS affects 0.1–0.5 percent of the population and is characterized by inflammatory back pain, radiographic sacroiliitis, excess spinal bone formation, and a high prevalence of HLA–B27. Although non-radiographic axial SpA shares several features with AS, advanced sacroiliac joint damage and spine ankylosis are absent. The severity of arthralgia, stiffness, and limited flexibility vary widely among patients and throughout axial SpA. The skeletal disease may be accompanied by uveitis, psoriasis, and inflammatory bowel disease (IBD). Axial SpA can impose substantial physical and social burdens on patients and interfere with day-to-day life. Axial SpA is associated with a significant disease burden, including significant pain, stiffness, and impaired physical function. Despite this b...

  Acute myocardial infarction (AMI) is one of the most common diseases in developing countries. It is commonly known as a heart attack, and it occurs when there is a sudden blockage in blood flow in one or more of the coronary arteries, cutting off blood supply to a part of the heart muscle and causing necrosis. If the blockage is severe, the heart may stop beating. This is most commonly caused by occlusion or blockage of a coronary artery caused by a vulnerable atherosclerotic plaque rupture, an unstable collection of lipids and white blood cells in the artery wall. Myocardial infarction usually begins in the endocardium and spreads towards the epicardium. Acute myocardial infarction symptoms include chest pain that may spread to the shoulder, arm, back, neck, or jaw. This type of pain always begins in the center or left side of the chest and lasts a few minutes. The onset of symptoms in acute myocardial infarction is usually gradual, over several minutes, and rarely instantaneous...

  Acute Coronary Syndrome is one of the most common diseases in developing countries. It is commonly known as a heart attack, and it occurs when there is a sudden blockage in blood flow in one or more of the coronary arteries, cutting off blood supply to a part of the heart muscle and causing necrosis. If the blockage is severe, the heart may stop beating. This is most commonly caused by occlusion or blockage of a coronary artery caused by a vulnerable atherosclerotic plaque rupture, an unstable collection of lipids and white blood cells in the artery wall. Myocardial infarction usually begins in the endocardium and spreads towards the epicardium. Acute myocardial infarction symptoms include chest pain that may spread to the shoulder, arm, back, neck, or jaw. This type of pain always begins in the center or left side of the chest and lasts a few minutes. The onset of symptoms in acute myocardial infarction is usually gradual, over several minutes, and rarely instantaneous. The in...

Relapsing-remitting Multiple Sclerosis – Market outlook, Epidemiology, Market Forecast, and Competitive Landscape Report – 2021 To 2032  

  Oculocutaneous Albinism (OCA) – Market outlook, Epidemiology, Market Forecast, and Competitive Landscape Report – 2021 To 2032

  Meningococcal Meningitis – Market outlook, Epidemiology, Market Forecast, and Competitive Landscape Report – 2021 To 2032

  Hypophosphatasia – Market outlook, Epidemiology, Market Forecast, and Competitive Landscape Report – 2021 To 2032

  Giant Axonal Neuropathy (GAN) – Market outlook, Epidemiology, Market Forecast, and Competitive Landscape Report – 2021 To 2032

Chronic Traumatic Encephalopathy (CTE) – Market outlook, Epidemiology, Market Forecast, and Competitive Landscape Report – 2021 To 2032  

  Chronic Traumatic Encephalopathy (CTE) – Market outlook, Epidemiology, Market Forecast, and Competitive Landscape Report – 2021 To 2032

  Chiari Malformation – Market outlook, Epidemiology, Market Forecast, and Competitive Landscape Report – 2021 To 2032

  Cervical Dystonia – Market outlook, Epidemiology, Market Forecast, and Competitive Landscape Report – 2021 To 2032

  Barrett’s Esophagus – Market outlook, Epidemiology, Market Forecast, and Competitive Landscape Report – 2021 To 2032

  Advanced or Metastatic Biliary Tract Cancer (BTC) – Market outlook, Epidemiology, Market Forecast, and Competitive Landscape Report – 2021 To 2032

  Relapsed or Refractory Metastatic Colorectal Cancer – Market outlook, Epidemiology, Market Forecast, and Competitive Landscape Report – 2021 To 2032

  B-Cell Acute lymphoblastic leukemia (ALL) is a type of blood cancer in which many abnormal, immature lymphocytes known as blasts begin to multiply in the bone marrow. Lymphocytes are white blood cells that play a role in the immune response. B-ALL is characterized by the expression of various B–cell-specific antigens, which often include PAX-5, CD19, CD20, CD22, CD24, and CD79a. B-cell ALL is primarily a childhood disease, with approximately 75% of cases being children aged <6 years, however, the majority of the B-Cell ALL occurs in the <15 years of age; also, the peak of the incidence is seen in people around 40 years. Approximately 20% to 30% of adult acute lymphoblastic leukemias (ALLs) and 5% of pediatric ALLs harbor the Ph-chromosome. This genetic alteration confers a poor prognosis, as defined by shorter remission duration and shorter survival, and higher rates of resistance to standard chemotherapy. CNS involvement is more common in relapsed adult patients. In childr...

  Malignant gliomas consist of glioblastomas, anaplastic oligodendrogliomas, anaplastic astrocytomas, and some less common tumors such as anaplastic ependymomas and anaplastic gangliogliomas. Malignant gliomas have high morbidity and mortality. With optimal treatment, the median survival for glioblastomas is only 12–15 months, and 2–5 years for anaplastic gliomas. Recent advances in our understanding of the molecular pathogenesis of malignant gliomas have resulted in the development of targeted chemotherapeutic agents. Furthermore, advances in diagnostic imaging have enabled the early detection and treatment of malignant gliomas. Meaningful palliation is possible for selected patients with recurrent malignant glioma (glioblastoma multiforme, anaplastic astrocytoma, anaplastic oligodendroglioma, or anaplastic mixed oligoastrocytoma) using aggressive treatment. Although long-term disease-free survival occurs in fewer than 10% of patients, most who achieve such survival have been trea...

  Liver fibrosis is an ineffective wound-healing process of the liver in response to repeated and chronic injury from many etiologies, such as infectious diseases like viral hepatitis, metabolic derangements (non-alcoholic steatohepatitis), exposure to toxins (e.g., alcohol liver diseases), or autoimmune diseases (e.g., primary biliary cirrhosis, primary sclerosing cholangitis, and autoimmune hepatitis). The morphology characteristics of liver fibrosis are the deposition of extracellular matrix (ECM) produced by myofibroblasts. Myofibroblasts are absent from the healthy liver, accumulate in the injured liver, and serve as the principal effector cells of fibrogenesis. Several events are critical for the pathogenesis of liver fibrosis and its resolution. Damage to hepatocytes causes inflammatory reactions, which lead to the activation of hepatic stellate cells (HSCs). HSCs in the normal liver are in a quiescent state and function to store retinoids and serve as the pericytes for the ...

  Fuchs endothelial dystrophy (FED) is a primary, progressive corneal endothelial disorder that causes corneal edema and vision loss. The first signs of FED usually appear between the fifth and seventh decades of life. They are characterized by progressive accumulation of focal excrescences, termed “guttae,” and thickening of Descemet’s membrane, a collagen-rich layer secreted by endothelial cells. Endothelial cell density and functionality as the cornea's "pump" eventually decline, resulting in vision-threatening corneal edema. Although the presence of corneal guttae is not pathognomonic for FED, the development of stromal edema does. Symptoms include visual blurring, most notably in the morning, and stromal and epithelial edema caused by relatively low tear film osmolality. FED has been linked to mutations in collagen VIII, a vital component of the Descemet's membrane secreted by endothelial cells. FED is divided into four stages, beginning with early signs of gutta...

Epidermodysplasia verruciformis (EV) is a rare, lifelong, cutaneous, autosomal recessive immune system disorder characterized by increased susceptibility to cutaneous human papillomavirus (HPV) infection beginning in childhood. The disease usually manifests during infancy (7.5% of cases), youth (61.5% of cases), or puberty (22% of cases) with the progressive development of hyperpigmented or hypopigmented flat wart-like papules, irregular reddish-brown plaques, seborrheic keratosis-like lesions and pityriasis Versicolor-like macules on the trunk, neck, face, dorsal hands, and feet. Loss-of-function mutations can cause EV in either of two adjacent genes, EVER1/TMC6 or EVER2/TMC8 (17q25.3), which code for membrane proteins that form a complex with the zinc transporter protein ZnT-1 in the ER membrane of keratinocytes. In epidermodysplasia verruciformis, two clinical presentations have been described. Flat-topped papules and plaques with a scaly surface and irregular borders that are white...