Thelansis

 Spasticity is a stretch reflex disorder clinically manifested as an increase in muscle tone that becomes more noticeable with faster-stretching movements. Upper motor neuron syndrome is typical of lesions that damage upper motor neurons (UMNS). The exaggeration of stretch reflexes is the hallmark of spasticity. As a result, a passively stretched muscle or muscle group experiences a velocity-dependent increase in resistance. Besides the dependence on velocity, spasticity is also a length-dependent phenomenon. In the quadriceps, spasticity is more significant when the power is short than when it is long. Bending the knee, at first, an excellent resistance is met. This is probably one of the mechanisms underlying the so-called clasp knife phenomenon. ·        Spasticity affects approximately 15% to 34% of those with stroke, ~85% of patients with Cerebral Palsy (CP), around about 40% to 45% of TBI patients, 35% of Spinal cord compression (SCI) patients, and 35% to 70% of patients with m

 Scoliosis includes a heterogeneous group of conditions with varied presentations, progression, and natural history. The etiology of EOS can be idiopathic or due to various scoliosis-associated syndromes, such as congenital vertebral anomalies or neuromuscular diseases. The incidence of Paediatric Scoliosis (PS) is four times more in Europe when compared with the United States; 1 to 2 cases per 10,000 population, and is more frequent in Asian region countries. Infantile idiopathic scoliosis (IIS) constitutes only 1% of the idiopathic scoliosis population. IIS is more common in males, tends to be left-sided, and 70 to 90% occur in the mid to lower thoracic spine. ·        The incidence of scoliosis is 15% to 28% amongst children with cerebral palsy, with institutionalized patients, spastic quadriplegic CP, and children with limited motor function being most commonly affected. Thelansis’s “Scoliosis Market Outlook, Epidemiology, Competitive Landscape, and Market Forecast Report – 202

 Salivary gland malignancies are rare tumors that comprise multiple histologic entities with diverse clinical behavior. Mucoepidermoid carcinoma is the most frequent primary salivary malignancy that involves the parotid gland, followed by the submandibular and sublingual glands. The variation in histology and, in some cases, grade of malignancy may contribute to diversity in clinical behavior and prognosis of salivary gland malignancies. Although most salivary malignancies are asymptomatic, presentation with a rapidly enlarging mass may be accompanied by pain, functional neurologic deficits, soft-tissue invasion, or nodal enlargement. Primary salivary gland malignancies comprise a group of up to 20 distinct histopathologic entities present as an asymptomatic mass. However, some patients may experience rapid enlargement of the mass, soft tissue invasion, trismus, progressive loss of nerve function, pain, paresthesia, or development of enlarged neck nodes. ·        Salivary gland malig

 Primary myelofibrosis is a rare myeloproliferative neoplasm caused by dysregulation of the JAK2-STAT5 signaling pathway, with the most common mutation being JAK2V617F. It is characterized by stem-cell derived clonal over the proliferation of mature myeloid lineages, such as erythrocytes, leukocytes, and megakaryocytes, with variable degrees of megakaryocyte atypia, associated with reticulin and/or collagen bone marrow fibrosis, osteosclerosis, ineffective erythropoiesis, angiogenesis, extramedullary hematopoiesis, and abnormal cytokine expression. Mutations in the MPL gene and CALR can also contribute to this disorder. Clinical manifestations depend on the type of blood cell(s) affected. They may include severe anemia, pallor, petechiae, ecchymosis, bleeding, thrombosis, pancytopenia, pruritus, hypermetabolic state, marked hepatosplenomegalies, and constitutional symptoms, such as fatigue, fever, and night sweats. Differential diagnosis of primary myelofibrosis includes chronic myeloi

Neuroblastoma is a malignant tumor that arises from neural crest cells, which give rise to the sympathetic nervous system, and occurs mainly in children. The prognosis of neuroblastoma is affected by various genetic anomalies, such as amplification of the oncogene MYCN, numerical abnormalities of chromosomes and segmental chromosomal anomalies (including loss from 1p, from 11q, or gains of 17q). Diagnosis is based on elevated metabolites of urinary catecholamines and imaging of the initial tumor by ultrasound, brain scan, or MRI. MIBG scintigraphy and medullary analysis are useful for detecting metastases. Nephroblastoma is a differential diagnosis. Bone pain and limp can be misinterpreted as synovitis of the hip, and bilateral peri-orbital hematomas should not be mistaken for maltreatment. The prognosis of neuroblastoma is poor for approximately 60% of children over one year of age who present with metastatic disease at diagnosis, even with intensive treatment. The five-year survival

Myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) is an immune-mediated demyelinating disorder that affects the central nervous system by causing inflammation and damage to the optic nerve, spinal cord, brain, and/or brainstem. The MOG protein is found in the nerve coverings of the central nervous system and is involved in myelin maturation and cell surface interactions. The exact cause of MOGAD is unknown, and it affects males and females equally but is more prevalent in children than adults. The symptoms of MOGAD are categorized into optic neuritis, transverse myelitis, acute disseminated encephalomyelitis (ADEM), and cerebral encephalitis. Diagnosing MOGAD requires a blood test to screen for antibodies and MRI and lumbar puncture. ·        In the USA, the estimated incidence of MOGAD is 1 to 2 per 100,000 individuals annually. Thelansis’s “Myelin Oligodendrocyte Glycoprotein Antibody-associated Disease (MOGAD) Market Outlook, Epidemiology, Competitive Landscape

 Morquio Syndrome also known as Mucopolysaccharidosis Type IV is a rare lysosomal storage disease with mild to severe spondylosis-epiphyses-metaphyseal dysplasia. It is characterized by disproportionate short stature with a short neck and trunk, joint laxity, pectus carinatum, genum valgum, abnormal gait, tracheal narrowing, spinal abnormalities such as kyphosis and scoliosis, respiratory impairment, and valvular heart disease. Clinically, the two forms of MPS, IVA and IVB, have similar skeletal manifestations. But MPS IVA is more severe. MPS IVA is diagnosed during the second year of life. Progressive skeletal and joint deformities lead to impairment in walking and daily activities. Patients experience low endurance, debilitating fatigue, and pain; many become wheelchair-dependent in their second decade. Body-wide accumulation of glycosaminoglycans (GAGs) results in dysfunction and dysplasia. In MPS IVA, deficiency of the enzyme N-acetylgalactosamine-6-sulfate sulfatase (GALNS, 16q24.

 

 Angiosarcoma is a highly malignant neoplasm originating from the endothelial cells of blood or lymphatic vessels. It is characterized by the formation of abundant vascular channels due to the proliferation of spindle or pleomorphic cells that line or grow into the lumina of preexisting vascular spaces. In adults, primary hepatic angiosarcoma is the liver's most common primary malignant mesenchymal tumor. The etiology of the majority of these tumors remains unknown. However, several factors have been identified, including exposure to industrial materials, iatrogenic exposure to certain substances, and chronic ingestion of certain toxins. Hepatic angiosarcoma manifests as a hepatic bleeding mass and can sometimes present as a solid tumor. The tumor tends to metastasize to the lungs and hilar lymph nodes and spread to other organs such as the spleen and bones. Clinical tumour staging is based on the American Joint Committee on Cancer Staging System for soft tissue sarcoma, which cons

 Inherited retinal diseases (IRDs), also known as inherited retinal degeneration or retinal dystrophy, are caused by over 260 genes. IRDs have three inheritance patterns: autosomal dominant, autosomal recessive, and X-linked. IRDs affect various retinal cells and come in different types, including retinitis pigmentosa, rod dystrophy, Usher syndrome, Bietti crystalline dystrophy, Batten disease, Bardet-Biedl syndrome, Alport syndrome, Leber congenital amaurosis or early onset retinal dystrophy, cone dystrophy, cone-rod dystrophy, achromatopsia, congenital stationary night blindness, macula dystrophy, Stargardt’s disease, Best disease, pattern dystrophy, Sorsby fundus dystrophy, Doyne’s honeycomb dystrophy, choroideremia, and X-linked retinoschisis. Luxturna (Voretigene-Neparvovec), a gene therapy from Novartis, is the only approved treatment available for any IRD. ·        Inherited retinal diseases affect one in 4,000 people globally. Thelansis’s “Inherited Retinal Dystrophies (IRD

Hemophilia is a severe hereditary hemorrhagic disorder, with significant types of haemophilia A (also known as classic haemophilia or factor VIII deficiency) and haemophilia B (also known as Christmas disease or factor IX deficiency). The disorder is inherited and is characterized by a deficiency of clotting factors in the blood. Hemophilia C is a rare condition caused by a deficiency of clotting factor XI. Approximately 25% of haemophilia A cases are caused by gross gene rearrangements, with 5% due to gross gene deletions and 20% to inversions of a 500-600 kb segment that breaks intron 22 of the F8 gene. Hemophilia B cases due to gross rearrangements of F9 are less than 2%. F9 mutations occur more frequently in male germline than in female germline. Hemophilia can manifest in mild, moderate, and severe forms, depending on the blood level or amount of clotting factor and the patient's symptoms. Mild haemophilia involves having 6-49% of the normal factor level, with bleeding typical

 Glomerulonephritis (GN) is a subgroup of renal diseases caused by immune-mediated damage to the basement membrane, mesangium, or capillary endothelium. This leads to symptoms such as hematuria, proteinuria, and azotemia. GN can be classified as acute or progressive, potentially leading to chronic kidney and end-stage renal disease. There are several ways to classify GN based on clinical presentation, including the nephrotic or nephritic syndrome, or based on the underlying immune processes, with five forms: immune-complex, pauci-immune, anti-glomerular basement membrane, monoclonal Ig, and C3 glomerulopathy. Regardless of the classification, the pathogenesis of GN is immune-mediated and involves both humoral and cell-mediated pathways. The following inflammatory response can cause fibrosis and depends on the target of immune-mediated damage, which can vary based on the type of GN. The underlying mechanisms activate the complement system and coagulation cascade, releasing pro-inflammat

 Gliosarcoma (GS) is a primary mixed tumor in the central nervous system that has a biphasic pattern consisting of glial and malignant mesenchymal elements. It manifests through various symptoms, including headaches, seizures, memory problems, thought process issues, movement difficulties, and numbness or weakness. The onset of GS is usually observed in individuals aged between the fourth and sixth decade of life, and the male/female ratio is 1.8/1. Gliosarcomas are classified as Grade IV tumors, which grow rapidly and spread aggressively. They may be primary or secondary, based on their origin. Primary gliosarcomas originate in the central nervous system, while secondary gliosarcomas arise after the initial treatment of another glioblastoma, usually following radiation therapy. Gliosarcomas are rare, accounting for approximately 2% of all glioblastomas, and both tumor types are challenging to treat because they tend to grow aggressively and invade surrounding brain tissues. The treatm

 Glaucoma is a chronic and progressive ocular disease that results in visual field loss due to damage to the optic nerve. The optic nerve is responsible for transmitting visual information from the retina to the brain, and damage to this nerve can cause irreversible vision loss. It can manifest in different forms, including primary (open-angle, normal-tension, angle-closure, congenital glaucoma) and secondary (neovascular, pigmentary, exfoliation, and uveitic glaucoma). The main risk factor for the disease is increased intraocular pressure caused by abnormalities in the eye's drainage system, leading to fluid buildup that damages the optic nerve. Diagnosis of glaucoma requires various tests, including visual acuity tests, pupil dilation, visual field tests, tonometry, optic nerve imaging, gonioscopy, and pachymetry. The prognosis depends on the stage at which it is detected and requires aggressive treatment. It implies a worse long-term prognosis when the optic nerve has already su

 Gastroenteropancreatic neuroendocrine tumors (GEP-NETs), also known as (carcinoids and Islet cell tumors), Carcinoid tumor are a rare form of neoplastic disease arising from primitive stem cells in the gut wall, particularly in the appendix. They can also be found in other organs, such as the lungs, liver, pancreas, and kidneys. These tumors are of neuroendocrine origin and can secrete humoral factors, including polypeptides, vasoactive amines, and prostaglandins, resulting in a hormonal syndrome. The symptoms of this hormonal syndrome include increased bowel movements, diarrhea, vasoactive flushes (especially of the face), hypotension, tachycardia, venous telangiectasia, dyspnea, and bronchospasms. In addition, the long-term effects of this condition may lead to fibrotic changes in the mesentery, retroperitoneum, and cardiac valves. Carcinoid tumors are classified based on location in the primitive gut that gives rise to the tumor, including foregut, midgut, and hindgut carcinoid tum

 Primary fallopian tube carcinoma (PFTC) is rare cancer that arises from the transformation of the salpingeal mucosa, or the cells lining the fallopian tubes. The exact cause of PFTC is unknown, but hormonal, reproductive, and genetic factors, as well as deleterious mutations in the BRCA1 or BRCA2 genes, are thought to increase the risk of this disease. The most common type of PFTC is papillary serous adenocarcinoma, which represents more than 95% of fallopian tube cancers. Other types of PFTC include sarcomas (leiomyosarcomas) and transitional cell carcinomas. PFTC typically occurs between the ages of 40 and 60, with a median age of 55. Symptoms of PFTC include irregular vaginal bleeding or discharge, lower abdominal pain, bloating, and pelvic pressure. Pain, which may be relieved with the passage of blood or discharge, is a commonly reported symptom. The 5-year survival rate for patients with stage III-IV disease is 55% if the residual tumor is less than 1 cm in diameter, compared to

 Essential thrombocythemia (ET) is a type of myeloproliferative neoplasm (MPN), which is characterized by a persistent increase in the number of blood platelets (above 450 x 109/L) and a tendency towards abnormal blood clotting and bleeding. The most common genetic mutations found in ET are somatic mutations in the JAK2 gene. Mutations in the LNK gene may also cause ET by downregulating the JAK2 pathway and mutations in the MPL gene in cases of ET with myeloproliferation. Symptoms of ET can range from asymptomatic to microcirculatory disturbances or vasomotor events, including headaches, visual disturbances, atypical chest pain, distal paresthesias, and erythromelalgia. The main risks for patients are arterial and venous thromboses, which can cause severe neurological, cardiac, or peripheral artery manifestations. The overall survival rate of patients with ET is similar to that of a healthy population matched by age and sex during the first decade after diagnosis. However, the survival

Essential thrombocythemia (ET) is a type of myeloproliferative neoplasm (MPN), which is characterized by a persistent increase in the number of blood platelets (above 450 x 109/L) and a tendency towards abnormal blood clotting and bleeding. The most common genetic mutations found in ET are somatic mutations in the JAK2 gene. Mutations in the LNK gene may also cause ET by downregulating the JAK2 pathway and mutations in the MPL gene in cases of ET with myeloproliferation. Symptoms of ET can range from asymptomatic to microcirculatory disturbances or vasomotor events, including headaches, visual disturbances, atypical chest pain, distal paresthesias, and erythromelalgia. The main risks for patients are arterial and venous thromboses, which can cause severe neurological, cardiac, or peripheral artery manifestations. The overall survival rate of patients with ET is similar to that of a healthy population matched by age and sex during the first decade after diagnosis. However, the survival

 Diabetic kidney disease (DKD) is a leading cause of end-stage kidney disease (ESKD), affecting approximately 40% of patients with type 1 and 2 diabetes. Diabetic nephropathy is the primary cause of kidney disease in patients who require renal replacement therapy. The exact cause of diabetic nephropathy remains unknown; however, insulin resistance, genetics, hyperglycemia, and autoimmune processes may contribute. Hyperglycemia causes the production of reactive oxygen species, which activate various pathways, including protein kinase C, hexosamine, polyol, and advanced glycation end products (AGE). The resulting inflammation is characterized by increased levels of cytokines and chemokines such as IL-6, MCP-1, TGF-beta, and VEGF, leading to fibrosis, inflammation, and increased vascular permeability. Chronic tubular injury and fibrosis occur as a result of epithelial-mesenchymal cell transformation. Albuminuria results from podocytopathy, and proteinuria occurs due to systemic and intrag

 Cryopyrin-associated Periodic Syndrome (CAPS) is a group of autoinflammatory disorders characterized by recurrent episodes of systemic inflammation. It comprises 3 distinct disorders that vary in severity: CINCA, Muckle-Wells, and familial cold urticaria. These disorders are caused by mutations in the NLRP3 gene, which encodes for the protein cryopyrin. These mutations result in a gain of function of cryopyrin, leading to increased secretion of IL-1 beta and dysregulated inflammation. The clinical presentation of CAPS can vary among patients with identical mutations. Differential diagnoses include systemic-onset juvenile idiopathic arthritis, rheumatoid arthritis, and systemic lupus erythematosus. The most effective treatment is IL-1 blockade using anakinra, rilonacept, or canakinumab. With optimal treatment adjustments, the progression of hearing loss and vision loss can be halted in most patients. ·        The prevalence in France is estimated to be 1 per 360,000. Males and female

 Clear cell renal cell carcinoma (CCRCC) is a renal cortical tumor characterized by malignant epithelial cells with clear cytoplasm and a compact-alveolar or acinar growth pattern accompanied by intricate vasculature. The disease may progress without noticeable symptoms in its early stage, but as it advances, symptoms such as hematuria, fatigue, fever, lump, flank pain, and weight loss may arise. Certain risk factors such as smoking, obesity, hypertension, kidney disease requiring dialysis, exposure to workplace toxins, and prolonged use of pain relievers can increase the chances of developing CCRCC. In some cases, CCRCC may cause blood clots in the renal vein of the affected kidney. The incidence rate of CCRCC increases with age, peaks in individuals aged 60 to 79, and is higher in males than females. ·        The overall incidence rate of ccRCC in the USA was estimated to be 3.59 cases per 100,000 population. Thelansis’s “Clear Cell Renal Cell Carcinoma (CCRCC) Market Outlook, Ep