Thelansis

An autosomal recessive lysosomal storage disease is belonging to the oligosaccharidosis group (also called glycoproteinosis). Etiology- Mutations in the AGA gene cause aspartylglucosaminuria. The AGA gene provides instructions for producing an enzyme called aspartylglucosaminidase. Epidemiology- In Finland, where most cases are reported, there are an estimated 130 cases in 4.5 million persons. In the rest of the world, the condition is scarce and affects persons of various heritages.   The competitive landscape of Aspartylglucosaminuria (AGU) includes country-specific approved as well as pipeline therapies. Any asset/product-specific designation or review and Accelerated Approval are being tracked and supplemented with analyst commentary. KOLs insights of Aspartylglucosaminuria (AGU) across 8 MM market from the center of Excellence/ Public/ Private hospitals participated in the study. Insights around current treatment landscape, epidemiology, clinical characteristics,...

  Chondrosarcoma is a rare malignant tumor that forms a cartilaginous matrix. Chondrosarcomas arising de novo are termed primary chondrosarcomas, while those developing in pre-existing benign cartilaginous tumors such as osteochondroma or enchondroma are referred to as secondary chondrosarcomas. CHS constitutes various groups of malignant bone tumors and encompasses multiple histological subtypes. Overall, conventional CHS is the most common subtype. It accounts for 85% of CHS, followed by dedifferentiated (10%), mesenchymal and clear cell CHS, these two representing less than 2% of all CHS cases. Conventional CHS can develop de novo or in a pre-existing enchondroma and osteochondroma. CHS is classified into three grades based on cellular atypia, mitotic figures, and cellularity. CHS grades 1 and 2 are represented by 85% of all CHSs, 15% of cases are grade 3, and the dedifferentiated CHS. According to the latest WHO recommendations, CHS should be classified into central or secondar...

  Invasive pneumococcal disease is defined as an infection confirmed by the isolation of Streptococcus pneumoniae from a normally sterile site (eg, blood, cerebrospinal fluid, and pleural, joint, or peritoneal fluid but not sputum). Children with pneumococcal infection often present with non-specific symptoms and signs including isolated fever. Certain populations of children are at increased risk of IPD. Children at particularly high risk are those with antibody deficiencies, such as X-linked (Bruton's) agammaglobulinemia, anatomic or functional asplenia, sickle cell disease, HIV infection, and those with cochlear implants or CSF leak. Children with other chronic illnesses (eg, cardiac, pulmonary, or renal disease and diabetes mellitus) and those receiving chemotherapy or steroids are also at risk. Children in daycare from an early age also have a higher incidence of IPD. Around 10–20% of children with pneumococcal meningitis have underlying comorbidity. The manifestations of IPD ...

  SLC13A5 deficiency is a rare autosomal recessive disorder caused by mutations in the sodium-coupled citrate transporter gene SLC13A5. It is characterized by infantile seizures and neurodevelopmental delays. Patients with SLC13A5 citrate transporter disorder are initially identified by the multiple types of seizures that begin within the first week of life. This rare disease is due to changes (mutations) in the SLC13A5 gene (solute carrier family 13, member 5). Seizures begin within a few days of birth, which are often refractory to medications and most patients remain on anti-seizure medications throughout life. Additional symptoms include limited ability to speak, slow motor development including problems standing or walking independently, as well as abnormalities in tooth enamel. Problems with tone are also reported with chronic low tone but also periodic episodes of body stiffening and post stiffening weakness. Siblings with the same genetic mutation show differences in the se...

  Arginase-1 deficiency is a rare inherited disorder characterized by a complete or partial lack of the enzyme arginase in the liver and red blood cells. Arginase is one of six enzymes that play a role in the breakdown and removal of nitrogen from the body, a process known as the urea cycle. The lack of the arginase enzyme results in excessive accumulation of nitrogen, in the form of ammonia (hyperammonemia), in the blood, and arginine (hyperuricemia) in the blood and cerebrospinal fluid. Symptoms associated with arginase-1 deficiency differ from those associated with other disorders of the urea cycle. Most infants with an arginase-1 deficiency do not exhibit any symptoms during the first few months to a year of life. Infants with arginase-1 deficiency infrequently experience severe hyperammonemia or hyperammonemia coma, which are characteristic of the other urea cycle disorders.  Affected children may experience a lag in growth between one and three years and may walk on thei...