Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0039730 (thalassemia)
 10,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Neuronal-glial communication is essential for constructing the orthogonal axon scaffold in the developing Drosophila central nervous system (CNS). Longitudinal glia (LG) guide extending commissural and longitudinal axons while pioneer and commissural neurons maintain glial survival and positioning. However, the transcriptional regulatory mechanisms controlling these processes are not known. Previous studies showed that the midline function of the jing C2H2-type zinc-finger transcription factor was only partially required for axon scaffold formation in the Drosophila CNS. We therefore screened for gain-of-function enhancers of jing gain of function in the eye and identified the Drosophila homolog of the disease gene of human alpha-thalassemia/mental retardation X-linked (ATR-X) as well as other genes with potential roles in gene expression, translation, synaptic transmission, and cell cycle. jing and DATR-X reporter genes are expressed in both CNS neurons and glia, including the LG. Coexpression of jing and DATR-X in embryonic neurons synergistically affects longitudinal connective formation. During embryogenesis, jing and DATR-X have autonomous and nonautonomous roles in the lateral positioning of LG, neurons, and longitudinal axons as shown by cell-specific knockdown of gene expression. jing and DATR-X are also required autonomously for glial survival. jing and DATR-X mutations show synergistic effects during longitudinal axon formation suggesting that they are functionally related. These observations support a model in which downstream gene expression controlled by a potential DATR-X-Jing complex facilitates cellular positioning and axon guidance, ultimately allowing for proper connectivity in the developing Drosophila CNS.
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PMID:Glial and neuronal functions of the Drosophila homolog of the human SWI/SNF gene ATR-X (DATR-X) and the jing zinc-finger gene specify the lateral positioning of longitudinal glia and axons. 1664 85

There are numerous studies presenting the beneficial effect of bisphosphonates (BPs) on bone disease of patients suffering from beta-thalassemia major (TM). Although BPs have been widely used, adverse events have been described including atypical femoral fractures (AFF). In the present case, a male adult patient suffering from TM sustained an AFF fulfilling all major and two minor criteria. Before AFF, the patient had been treated with zoledronic acid for three years and remained another one year without osteoporosis therapy. To our knowledge, this is the first reported case of AFF in a patient suffering from TM, probably due to the small sample size of patients with thalassemia. The purpose of the present case is to increase the awareness amongst haematologists, who mainly deal with TM patients, of the adverse events of BP use.
J Musculoskelet Neuronal Interact 2016 Mar
PMID:Atypical femoral fracture in a beta-thalassemia major patient with previous bisphosphonate use: case report and a review of the literature. 2694 26

Avascular necrosis (AVNFH) of the femoral head is a relatively rare condition linked with numerous causes. If not treated promptly then arthritis may be inevitable, making hip replacement the only treatment option. In this case report we present a young AVNFH patient with history of heterozygous beta thalassemia. To our knowledge this is the second case where a thalassemia carrier presents AVNFH. Due to his age and pre-collapse stage, we elected to use a minimally invasive, femoral head sparing technique. Therefore, the patient underwent arthroscopy and fluoroscopy assisted core decompression followed by autograft and demineralized bone matrix application. Recovery was uneventful and a year after surgery femoral collapse did not progress. Moreover, the patient was pain free and capable of participating in sport activities. Even though it is difficult to describe a pathway linking heterozygous beta thalassemia with AVNFH, a possible relation between them cannot be discarded.
J Musculoskelet Neuronal Interact 2019 09 01
PMID:Minimally invasive treatment of femoral head avascular necrosis in a beta thalassemia carrier. A case-report. 3147 46