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Thymic Aplasia

Thymus Aplasia Congenital


Presentation

  • The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • The authors present sibs who exhibit some features of the DiGeorge syndrome. However, they differ from the previously reported cases because of the growth retardation and intrauterine death.[indiana.pure.elsevier.com]
  • We report a case of congenital acute myeloid leukemia who presented intense paleness generalized petechiae and ecchymoses as well as hepatosplenomegaly.[new.medigraphic.com]
  • Written by internationally recognized authorities, the comprehensive, evidence-based practice information is presented in an outline format that is clear and easy to follow.[books.google.de]
  • Desai Patricia Jones Category: Myeloid Disorders Acquired Neutropenia Published Date: 08/22/2013 A 73-year-old white male presented to his primary care physician with abdominal pain, vomiting, dyspnea, and dysphagia lasting 1 week.[imagebank.hematology.org]
Aspiration
  • The diagnosis was confirmed by the presence of blasts in peripheral blood smear and bone marrow aspirate. Immunophenotyping was performed and contributed to a definitive diagnosis. The autopsy confirmed the thymic aplasia.[new.medigraphic.com]
  • One died at 58 days of age of aspiration and congestive heart failure. He was found at autopsy to lack thymic tissue and parathyroids.[nature.com]
  • Wright-Geimsa stained bone marrow aspirate smear (1000 ) with preserved erythroid precursors, but absent granulopoiesis (panel A).[imagebank.hematology.org]
Sputum
  • He also reported white patches in his mouth and a cough that produced white sputum that started during this time period.[imagebank.hematology.org]
Short Arm
  • DiGeorge’s syndrome (DGS) is secondary to a hemizygous deletion of the short arm of chromosome 22 (DEL 22q. 11.2).[brainkart.com]
  • Taylor MJ, Josifek K (1981) Multiple congenital anomalies, thymic aplasia, severe congenital heart disease and oligosyndaktylie with a deletion of the short arm of chromosome 5. Am J Med Gen 9: 5–11 CrossRef Google Scholar 220.[link.springer.com]
Long Arm
  • Quick Summary: 22q11.2 Deletion Syndrome is a genetic condition that is caused by deletion of genetic material from the long arm of chromosome 22. About 30-40 genes coexisting in this region are lost in the deletion.[dovemed.com]
  • Other names for this syndrome include: Velocardiofacial syndrome Shprintzen syndrome Conotruncal anomaly face syndrome 22 deletion syndrome Deletion is heterozygous and involves the long arm, q, of chromosome 22 hence the name 22q11.2 deletion syndrome[lecturio.com]
Petechiae
  • We report a case of congenital acute myeloid leukemia who presented intense paleness generalized petechiae and ecchymoses as well as hepatosplenomegaly.[new.medigraphic.com]
Broad Nasal Bridge
  • The risk factors for the spontaneous development are currently unknown Some major symptoms of the disorder include characteristic facial features, such as upslanted eyes, broad nasal bridge, cleft palate, congenital cardiac defects, recurrent infections[dovemed.com]
Excitement
  • This is an age of enlightenment in surgical pathology, and the authors of this new volume have captured this sense of excitement herein.[books.google.de]

Workup

Anterior Mediastinal Mass
  • Computed tomography of the chest showed a 6.6-cm 4.4-cm necrotic anterior mediastinal mass that involved the phrenic nerve. Bone marrow biopsy revealed hypocellular bone marrow with granulocytic aplasia.[imagebank.hematology.org]
  • The differential for plain radiography is that of an anterior mediastinal mass .[radiopaedia.org]

Treatment

  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • Emphasizing proper patient management, the book provides to specialists and general practitioners alike time-tested, cutting-edge guidelines on the use, monitoring, and dosage of hormone therapeutics in the treatment of disorders of endocrine function[books.google.com]
  • Seite 10 - Changes in thymic function with age and during the treatment of HIV infection, Nature, 396 (6712), 690-695, 1998. ‎[books.google.de]
  • Treatment is usually tailored to address individual symptoms.[dovemed.com]
  • ., Vascular and sensory responses of human skin to mild injury after topical treatment with capsaicin, Br. J. Pharmacol., 73, 755, 1981. ‏ الصفحة 33 - Koopman, W. J., Orange, R. P., and Austen, KF, Immunochemical and biologic properties of rat IgE.[books.google.com]

Prognosis

  • […] symptoms, diagnosis, complications, treatment, prevention, prognosis, and additional useful information HERE .[dovemed.com]
  • Prognosis : die at birth or by 13 weeks. Pathogenesis Pathophysiology Pedigree analysis suggests autosomal recessive mode of inheritance, although proportion of affected kittens is greater than expected.[vetstream.com]
  • Prognosis is significantly influenced by the histological type and surgical staging (e.g.[radiopaedia.org]
  • Prognosis (lifestyle) This varies, many infants die from seizures, infections, or heart failure in the first year.[slideshare.net]
  • Prognosis of DiGeorge Syndrome Prognosis varies with the nature and the extent of involvement of organs. Many adults with this syndrome lead a long and normal life.[lecturio.com]

Etiology

  • All of the DiGeorge cases have been sporadic and it has been suggested that the etiology is teratogenic. This could be an example of the DiGeorge phenotype that is possibly genetic in origin.[indiana.pure.elsevier.com]
  • Although DiGeorge syndrome is usually sporadic, the occurrance in nonidentical twins suggests a genetic etiology in this family. Author information Affiliations Ohio St. Univ. Coll. of Med., Cols. Children's Hosp., Dept. Peds., Cols., Ohio.[nature.com]
  • Severe neutropenia of unknown etiology should prompt evaluation for possible mediastinal mass. Download Image Views: 2228 Downloads: 23 Size: 0.09 MB[imagebank.hematology.org]
  • In recognition of their unifying molecular etiology, the conditions previously known as velocardiofacial syndrome, DiGeorge syndrome, Shprintzen syndrome, and conotruncal anomaly face syndrome have been grouped into what is now termed the “22q11.2 deletion[pedsinreview.aappublications.org]
  • The etiology of DiGeorge syndrome is heterogeneous, with 90 percent of cases due to microdeletion of chromosome 22q11.2 and rarely of chromosome 10p13.[ashg.org]

Epidemiology

  • Epidemiology of DiGeorge Syndrome About 93 % of cases have de novo mutations during early fetal development while 7 % are inherited in autosomal dominant pattern from affected parents.[lecturio.com]
  • "DiGeorge syndrome" ( Medicine (Baltimore) 2011;90:1 ) Epidemiology Estimated prevalence is 1:4,000 births, range 1:3,000 - 1:6,000 ( Lancet 2007;370:1443 ) M F Spontaneous : familial 10:1 ( Genet Med 2001;3:23 ) 22q11.2 deletion syndrome is one of the[pathologyoutlines.com]
Sex distribution
Age distribution

Pathophysiology

  • Pathogenesis Pathophysiology Pedigree analysis suggests autosomal recessive mode of inheritance, although proportion of affected kittens is greater than expected. Failure of ectodermal (hypotrichosis) and entodermal (thymic aplasia) development.[vetstream.com]
  • ( Am J Med Genet Suppl 1986;2:113 ) Major targets are the organs derived from branchial apparatus; see details in Clinical Features Thyroid is one of the organs involved, however clinical impact in the thyroid is low compared to other manifestations Pathophysiology[pathologyoutlines.com]

Prevention

  • Diagnosis This article is available in full to registered subscribers Sign up now to purchase a 30 day trial, or Login Prevention This article is available in full to registered subscribers Sign up now to purchase a 30 day trial, or Login Further Reading[vetstream.com]
  • […] of the signs and symptoms, with milder cases having a better prognosis Please find comprehensive information on 22q11.2 Deletion Syndrome regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention[dovemed.com]
  • Early and rigorous control of hyperglycemia is an important public health measure to prevent the occurrence of serious birth defects. You may contact the first author (during and after the meeting) at[ashg.org]
  • TREATMENT:No cure PREVENTION Regarding blood transfusion and immunization with live vaccines Thymus transplantation can be used to address absence of the thymus in the rare, so-called "complete" DiGeorge syndrome Bacterial infections are treated with[slideshare.net]
  • These include irradiating all blood products to prevent graft vs. host disease and ensuring the blood products are free of potentially harmful viruses.[primaryimmune.org]

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