Thelansis

Rhabdomyosarcoma (RMS) is the most common soft-tissue sarcoma in children. RMS can occur anywhere in the body, including the head and neck, genitourinary organs, extremities, and abdomen. Although still debated, evidence suggests that RMS arises from the mesenchymal cell lineage, which is typically fated to become skeletal muscle tissue. RMS is traditionally classified into two major histological subtypes, embryonal RMS (ERMS) and alveolar RMS (ARMS), of which 60–70% of cases are ERMS and 20–30% are ARMS. 80% of ARMS cases are defined by a chromosomal translocation between PAX3 or PAX7 and FOXO1 genes; these translocations result in fusion genes that largely drive oncogenic activity. The other 20% of ARMS cases are similar to ERMS in terms of clinical outcomes and the pattern of somatic mutations. Despite the clinical significance of RMS, the underlying etiologies remain the environmental and genetic factors individually contribute to this malignancy. ·      ...

Retinoblastoma, although rare, stands as the predominant ocular neoplasm in childhood. It emerges as a malignant proliferation originating from the developing retina, typically manifesting before age five. This tumor arises from cells harboring cancer-predisposing variants in both alleles of the RB1 gene. Its presentation may be unifocal or multifocal. Approximately 60% of cases present as unilateral retinoblastoma, with a mean diagnosis age of 24 months, while around 40% present with bilateral involvement, typically diagnosed at 15 months of age. Heritable retinoblastoma follows an autosomal dominant pattern, increasing susceptibility to the disease and predisposing affected individuals to non-ocular tumors. The prognosis of localized disease is favorable for long-term survival, in stark contrast to metastatic retinoblastoma, characterized by aggressive behavior and dismal outcomes. The genetic underpinning of retinoblastoma is well-established, with evidence suggesting autosomal domi...

 Hypoparathyroidism manifests as a condition typified by decreased serum calcium levels and elevated serum phosphorus levels attributable to deficient secretion or activity of parathyroid hormone (PTH). Etiologically, hypoparathyroidism can arise as a component of either pluriglandular autoimmune disorders or complex congenital anomalies, exemplified by autosomal dominant DiGeorge syndrome or hypoparathyroidism, deafness, and renal dysplasia (HDR) syndromes. Moreover, isolated or idiopathic hypoparathyroidism denotes cases devoid of accompanying systemic abnormalities. The etiology of hypoparathyroidism is multifactorial and encompasses: 1.        Developmental anomalies of the parathyroid glands 2.        Iatrogenic injuries to the parathyroid glands 3.        Diminished parathyroid gland function due to dysregulated regulatory mechanisms 4.        Impair...

 Ehlers-Danlos syndrome is a group of connective tissue disorders that are characterized by unstable, hypermobile joints, loose, “stretchy” skin, and tissue fragility. It is caused by a defect in the connective tissue. The fragile tissues, stretchy skin, and unstable joints found in Ehlers-Danlos syndrome are due to a gene mutation in collagen. Vascular Ehlers-Danlos syndrome is an autosomal dominant condition; that is, a child only has to inherit a defect in the COL3A1 gene from one parent to have the disorder. About half of people with vascular Ehlers-Danlos syndrome inherited the COL3A1 mutation from an affected parent. The other half of people with the condition have a spontaneous disease-causing mutation; that is, they are the first person in their family to have vascular Ehlers-Danlos syndrome. Each child of an affected parent has a 50 percent chance of inheriting the mutation and developing the disorder. ·        The estimated prevalence of Eh...

 Drug-Resistant Epilepsy (DRE) is associated with neuroinflammatory, autoimmune, and neurodegenerative processes. Immune, pathophysiological, biochemical, and psychological effects are all caused by neuroinflammation. Whether localized or systemic, uncontrolled inflammatory processes result in abnormal neural connections and hyperexcitable neural networks. Anti-epileptic drugs given as monotherapies or in combination fail to achieve sustained seizure freedom because inflammatory mediators affect the endothelium of cerebral vessels, destroy endothelial cell contacts, and induce abnormal angiogenesis, affecting the blood-brain barrier permeability. In 30% to 40% of patients, drug resistance develops, resulting in premature death and brain damage. Drug-resistant epilepsy (DRE) can affect patients of any age recently diagnosed with epilepsy. Patients with DRE have a lower quality of life (QOL), greater medical, social, and financial burden, and a higher mortality rate. ·   ...

 Complement Deficiencies (CD) cause susceptibility not only to bacterial infection but also to autoimmune disease. Genetically determined MBL deficiencies are observed in autoimmune diseases such as systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA). Observation of the low concentrations of MBL and other complement proteins (e.g. C1q, C1r, C4) and poor activation of the complement system are also characteristic findings of inactive SLE. Complement activation almost inevitably results in some degree of tissue destruction, as seen in rheumatic diseases such as SLE, RA, vasculitis, and antiphospholipid antibody syndrome. Interest in complement in inflammatory disease has led to the development of pharmacologic complement inhibitors such as eculizumab, a humanized monoclonal anti-C5 antibody approved for paroxysmal nocturnal hemoglobinuria. Inflammatory conditions also result from hereditary or acquired deficiencies of complement regulatory proteins. For example, deficien...

  Carcinoid syndrome (CS) is a paraneoplastic syndrome caused by the discharge of serotonin and different substances from well-differentiated neuroendocrine tumors (NETs). CS is a paraneoplastic syndrome associated with the secretion of around 40 vasoactive hormones, the majority of which are 5-hydroxytryptamine (5-HT). CS also involves the secretion of histamine (primary gastric NETs), prostaglandins E and F, kallikrein, and tachykinins. The hallmark symptoms of carcinoid syndrome are diarrhea and flushing; atypical signs and symptoms can include wheezing, pellagra, valvular heart disease, telangiectasias, abdominal pain, and the complications of mesenteric fibrosis, including ureteral obstruction, bowel ischemia, and bowel obstruction. These symptoms are mediated by the release of serotonin (5-HT), prostaglandins, kallikrein, histamine, and tachykinins. These symptoms, as well as the corresponding elevations in lab tests, are required for the diagnosis of CS. Surgery and medica...

 Cold agglutinin disease (CAD), also known as primary or idiopathic CAD, is a clonal B-cell lymphoproliferative disorder of the bone marrow that results in autoimmune hemolytic anemia (AIHA). CAD predominantly affects elderly or middle-aged people. CAD antibodies are almost exclusively encoded by IGHV4-34, in rare instances anti-I cold agglutinins may also be encoded by IGHV3 family genes. Cold agglutinins that are associated with CAD are monoclonal and most often of the immunoglobulin M (IgM) class with κ light-chain restriction. After an IgM cold agglutinin binds to its antigen on the erythrocyte surface, complement is activated by the classical pathway, and complement activation is essential for hemolysis. Most effective therapies have aimed to target the pathogenic B-cell clone. Currently, however, novel complement-directed therapies are being rapidly developed. ·        The estimated incidence of Cold agglutinin disease (CAD) varies 0.8 to 3 per...

 Chronic spontaneous urticaria (CSU) also called chronic idiopathic urticarial is characterized by the occurrence of urticaria for 6 weeks or longer without identifiable specific triggers. The average duration of CSU is frequently reported as 5 years, but maybe longer in more severe cases specifically, in patients with concurrent angioedema. Patients with chronic urticaria (used as a proxy for CSU) experience the substantial health-related quality of life (HRQoL) and productivity impairments and increased psychological comorbidities relative to patients without chronic urticarial. CSU is the spontaneous development of signs and symptoms with no known specific trigger. CSU and CIndU may coexist in the same patient. Overall urticaria is classified as acute or chronic form based on the duration of illness. Chronic urticaria is diagnosed when the disease has been continuously or intermittently present for at least 6 weeks. The chronic and acute forms of urticaria differ in etiology, pa...

 Pain associated with burn and discomfort is an unfortunate part of burn injury and recovery. Burn pain is complex and requires careful assessment by your health care provider in order to find the best treatment. Pain management often requires a multidisciplinary approach that may include both medication and non-medication treatments and involve a team of health providers. There are many different types of burn pain, and each person’s pain is unique. Understanding the type, intensity, and duration of your pain is important for treatment. Types of pain are classified as Acute pain, Breakthrough pain, Resting pain, Chronic Pain, and Neuropathic Pain. It is often difficult to distinguish between changes in background pain and additional pain caused by movement both of which would be regarded as ‘breakthrough pain’. For this reason, breakthrough pain has been dealt with alongside background pain. ·        According to a literature survey, each year in th...

 Blepharitis defines the inflammation of the eyelid margin and is one of the most commonly found conditions in ophthalmic practice being a frequent cause of ocular irritation and discomfort. Blepharitis can be classified as anterior when the inflammatory process affects the base of the eyelashes, ciliary follicles, and the palpebral skin, or posterior when there is dysfunction of the Meibomian glands located on the posterior eyelid margin. Anterior blepharitis is divided into staphylococcal and seborrheic. The first has hard crushes at the base of the eyelashes and is the result of an abnormal cellular response to the cell wall components of Staphylococcus aureus (S.aureus). The second is frequently associated with generalized seborrheic dermatitis and has soft, greasy crusts that stick to the eyelashes. Blepharitis has a multifactorial pathogenic mechanism, and its etiology is not clearly known. Evidence indicates a relation with infectious, allergic, systemic, and environmental c...