CASE CHARACTERISTICS: A 3 y 9 mo-old male child presented with progressive anemia and bowing of thighs. Child was found to have a previously reported homozygous point mutation c.1238G A, (p.Arg413Glu) in Exon 16 of TBXAS1 gene. [ncbi.nlm.nih.gov]

We would like to report 3 cases of GHDD who presented in early childhood with moderate to severe anemia, splenomegaly, and a hypocellular marrow with increased reticulin. [ingentaconnect.com]

We review the literature for this uncommon disorder and also present a similar case in a 21-year-old female who remained undiagnosed until this age because of unfamiliarity of clinicians with the condition. [link.springer.com]

The present invention also relates to an inhibitor of the SMAD4-mediated TG?/BMP signalling pathway for use in the treatment of Myhre Syndrome. [patents.justia.com]

Conclusion GT is a platelet disorder that can present with unusual bleeding; it may rarely present with visceral or muscle hematoma. [jmgims.co.in]

MS share morphological features similar to non-Hodgkins lymphoma and both express certain markers, such as CD43 and CD45. [2] An inadequate workup may lead to confounding diagnosis. [pediatricneurosciences.com]

Initial laboratory workup [Table 1] revealed no metabolic abnormalities. [jpalliativecare.com]

Few cases have been reported worldwide and there are no detailed descriptions of the associated hematologic abnormalities and long-term clinical outcomes after treatment. [jhu.pure.elsevier.com]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

Treatment - Ghosal syndrome Not supplied. Resources - Ghosal syndrome Not supplied. [checkorphan.org]

Further, the various diseases of bone that are peculiar to children are highlighted and discussed in the light of our current knowledge with regard to causation, clinical signs and treatment. [books.google.com]

The diagnosis of this rare syndrome and its differentiation from other sclerosing bone disorders is important as correct diagnosis helps in treatment with corticosteroids, leading to considerable improvement in anemia and bony changes, negating the need [link.springer.com]

Prognosis - Ghosal syndrome Not supplied. Treatment - Ghosal syndrome Not supplied. Resources - Ghosal syndrome Not supplied. [checkorphan.org]

Treatment and prognosis Neonatal mortality is up to 80%, with usual cause of death respiratory compromise. However as the child ages, prognosis improves. History and etymology First case was described by R Antley and D Bixler in 1975 3. [radiopaedia.org]

Mortality has been reported to be as high as 80% in the neonatal period, primarily due to airway compromise, and prognosis improves with increasing age. [genome.jp]

Prognosis of the disease is good once the perinatal period has passed. Joint contractures have improved with age and passive range-of-motion exercises. [jcnonweb.com]

If GC can’t be prevented, it needs to be detected early through screening programs to achieve better prognosis for these patients, as has been accomplished in Japan. [22 ] In India, the disease is often detected at an advanced stage leading to poor prognosis [tropicalgastro.com]

Etiology GHDD is associated with mutations in the TBXAS1 gene (which encodes thromboxane synthase). Genetic counseling GHDD is transmitted as an autosomal recessive trait. [rarediseases.info.nih.gov]

In patients with intravenous drug abuse and with CD4 lymphocyte count 200/ml the common cause is bacterial pneumonia while in patients with sexually transmitted HIV, and those with [4] Etiology The common etiologies of PNX in persons with HIV infection [jacpjournal.org]

Article Adult onset Still's disease: An uncommon etiology of nonresolvingpneumonia- Med J DY Patil Univ 2013;6:465467. [ ] Ask Me (Ask a specific question regarding your health issues, which may be answered by Dr. Anirban Ghosal .) [anirbanghosal.com]

Reportedly, she had an episode of "low blood counts" of unclear etiology 23 years prior. [bloodjournal.org]

The reader will also be updated on the changing epidemiology of the condition. Diagnostic approach and management of IBS have also been thoroughly reviewed with an emphasis on the recent updates in the field. [books.google.de]

Epidemiology The exact prevalence is unknown. GHDD has been reported in unrelated families of Indian and Middle East origin. Etiology GHDD is associated with mutations in the TBXAS1 gene (which encodes thromboxane synthase). [rarediseases.info.nih.gov]

TN Dhole Molecular epidemiology of poliovirus Molecular epidemiology of non-poliovirus enteroviruses Vector borne viral diseases (JE/Dengue/Chikugunya) Prof. K.N. [sgpgi.ac.in]

From the epidemiological studies a total hypersensitivity reaction prevalence rate of 1.4% (95% confidence interval 1.2–1.7%) was determined. [medicaljournals.se]

M A Michaylov, D S Pressyanov, K B Kalinov Department of Radiation Hygiene, Hygienic and Epidemiology Inspection, Ministry of Health, Sofia-Bouchovo, Bulgaria. [oem.bmj.com]

Keywords : China, Irritable bowel syndrome, Pathophysiology [jnmjournal.org]

As the pathophysiological basis of the APS is immune mediated use of immunosuppressant’s to either prevent or treat the disease progression theoretically looks attractive. [diapedia.org]

Chronic idiopathic slow transit constipation: pathophysiology and management. Colorectal Dis. 2003;5:288– 96. 19. Ghoshal UC, Gupta D, Kumar A, Misra A. [tropicalgastro.com]

The enzyme plays a role in several pathophysiological processes including hemostasis, cardiovascular disease, and stroke. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [genecards.org]

OUTCOME: Low dose steroid therapy resulted in normalization of hemoglobin and prevented further progression of bony changes. [ncbi.nlm.nih.gov]

[…] inside bone Causes - Ghosal syndrome * 14q syndrome - growth retardation * 18p minus syndrome - growth retardation * 1q deletion - growth retardation * 2-Hydroxyglutaricaciduria - developmental delay * 2-methylbutyryl-coenzyme A dehydrogenase deficiency Prevention [checkorphan.org]

Additional aspects describe an inhibitor of TBXAS1 gene expression or a thromboxane inhibitor for treating or preventing a disease associated with a decreased bone mineral density (e.g., osteoporosis). [patents.justia.com]

Primary prevention trial: Several trials looking into the measures to prevent multiple autoimmune endocrinopathies in high-risk children are being done. [diapedia.org]

Within the Department of Neurology, our research scientists are focused on understanding, treating and preventing neurological disorders. [neuro.wustl.edu]