Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0406810 (NAME)
 13,345 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The myxoma complex is a very rare disease. We report on a 31-year-old woman who suffered a hyperthyreosis, which resolved spontaneously. A few months later she developed a Cushing's syndrome, caused by a primary adrenocortical nodular dysplasia. A bilateral adrenalectomy had to be performed. 15 months after this operation she developed a cerebral infarction caused by an embolus from a left atrial myxoma. Our patient is a further case of Carney's syndrome. The aspect of the hyperthyreosis is interesting: Perhaps disease of the thyroid represents a new element of Carney's syndrome.
 ...
PMID:Myxoma complex associated with transient hyperthyroidism: are diseases of the thyroid part of the complex? 940 65

Pituitary adenomas can occur in a familial context, or they can be isolated cases, sometimes due to a predisposing syndrome. In multiple endocrine neoplasia type 1, they often associate with a mutation of the menin gene, a tumor-suppressing gene. A new germinal mutation predisposing to the development of multiple endocrine neoplasias has recently been identified in MENI-negative subjects on the gene CDKN1B encoding for p27(kip1)protein. Carney Complex syndrome--a rare disease--is in more than 60% of the cases linked to the inactivation mutation of a gene located on 17q22-24 that encodes the regulatory subunit 1 of protein kinase A, PRKARIA. Isolated familial pituitary adenomas represent 1.9 to 3.2% of the population of subjects presenting a pituitary adenoma. Low penetrance non-sense mutations, Q14X, IVS3-IG>A and R304X, in 11q12-11q13 region encoding AIP protein, (Aryl hydrocarbon receptor Interacting Protein), have been described by Vierimaa et al, in Finish patients with pituitary adenoma predispositions.
 ...
PMID:[Familial pituitary adenomas: clinical and genetic aspects]. 1796 54

Despite being a rare disease, cancer is the first cause of mortality due to disease during the paediatric age in the developed countries. The current, great increase in new treatments, such as immunotherapy, constitutes a new clinical and regulatory paradigm. Cellular immunotherapy is one of these types of immunotherapy. In particular, the advanced therapy drugs with chimeric antigen receptors in the T-lymphocytes (CAR-T), and particularly the CAR-T19 cells, has opened up a new scenario in the approach to haematology tumours like acute lymphoblastic leukaemia and the B-Cell lymphomas. The approval of tisagenlecleucel and axicabtagene ciloleucel by the regulatory authorities has led to the setting up of the National Plan for Advanced Therapies-CAR-T drugs in Spain. There is evidence of, not only the advantage of identifying the centres most suitable for their administration, but also the need for these to undergo a profound change in order that their healthcare activity is extended, in some cases, to the ability for the in-house manufacture of these types of therapies. The hospitals specialised in paediatric haematology-oncology thus have the challenge of progressing towards a healthcare model that integrates cellular immunotherapy, having the appropriate capacity to manage all aspects relative to their use, manufacture, and administration of these new treatments.
 ...
PMID:[Immunotherapy with CAR-T cells in paediatric haematology-oncology]. 3210 77