Definition A rare primary immunodeficiency and life-threatening condition, often presenting with pneumococcal sepsis. Most affected individuals die of severe bacterial infections in early childhood. [uniprot.org]

[email protected] Abstract Congenital asplenia is a rare life-threatening condition, often presenting with pneumococcal sepsis. It may arise as part of situs abnormalities or result from an unrelated specific defect of spleen development. [ncbi.nlm.nih.gov]

Most of these presented in the early years of life and only seven cases were diagnosed in the adult [ 1 ]. [omicsonline.org]

Asplenia is also present in Stormorken syndrome (thrombocytopenia and miosis). [emedicine.medscape.com]

Amine Post to Citeulike Two classes of micromechanics-based models of void enlargement are presented succinctly with their fundamental hypotheses and synopsis of derivation highlighted. [authormapper.com]

• Splenomegaly

  "Splenectomy in Hodgkin's disease for splenomegaly, cytopenias and intolerance to myelosuppressive chemotherapy". The American Journal of Medicine. 50 (1): 49–55. doi : 10.1016/0002-9343(71)90204-X. [en.wikipedia.org]

  】*megaloblastic anemia 【巨爪症】*macronychia *megalonychia 【巨大S状結腸】*megasigmoid 【巨大結腸】*megacolon/*megalocolon 【巨大細胞性封入体症】*cytomegalic inclusion disease 【巨大歯】*macrodontia *giant tooth 【巨大膀胱】*megabladder *megacystis/*megalocystis 【巨乳症】*gigantomastia 【巨脾症】*splenomegaly [medo.jp]

• Sepsis

  Familial asplenia Howell-Jolly bodies Isolated congenital asplenia Pneumococcal sepsis This is a preview of subscription content, log in to check access. Preview Unable to display preview. Download preview PDF. [link.springer.com]

  It is a rare life-threatening condition and pneumococcal sepsis is often the first sign of the disease. We report on the case of a deceased 11-month-old girl and her father who developed recurrent pneumococcal meningitis. [ncbi.nlm.nih.gov]

  It can be represented by pneumococcal sepsis, meningitis, sepsis of unknown origin, thrombocytosis [ 9 ]. Asplenia is also a risk factor for overwhelming sepsis [ 10, 11 ]. [omicsonline.org]

• Streptococcal Infection

  Blood cultures are of value in patients with invasive streptococcal infections. This is also the case in patients with suspected pneumonia, particularly when this is severe, since up to 15% of patients will be bacteraemic [ 10 ]. [omicsonline.org]

• Weakness

  *chicken-pox *water-pox *varicella 【水頭症】*hydrocephaly *hydrocephalus 【水滑液嚢腫】*hygroma (＝ヒグローマ) 【水筋腫】*hydromyoma 【水銀性口内炎】*mercurial stomatitis 【水腎症】*hydronephrosis *nephrohydrosis 【水腎盂症】*hydropelvis 【水疱性類天疱瘡】*bullous pemphigoid 【水瘤】*hydrocele (衰) 【衰弱】*weakness [medo.jp]

• Lymphadenopathy

  (＝小書症) 【小人症】*microsomia 【小性器症】*microgenitalism 【小舌症】*microglossia 【小腸結腸炎】*enterocolitis 【小腸粘膜炎】*mucoenteritis 【小頭蓋症】【小頭症】*microcephaly/*microcephalia/*microcephalism *nanocephaly 【小頭体】*microcephalus 【小瞳孔症】*microcoria 【小児性頚部リンパ節症】*childhood cervical lymphadenopathy [medo.jp]

• Vomiting

  Initial symptoms are often mild, with an influenza-like presentation that includes fever, malaise, myalgias, headache, vomiting, diarrhea and abdominal pain. [aafp.org]

  /*vomition/*vomitus *emesis (カ) 【カタル性胃炎】*catarrhal gastritis 【カタル性炎】*catarrhal inflammation 【カタル性舌炎】*catarrhal glossitis *glossitis catarrhalis[L] 【カフェオーレ斑】*cafe-au-lait spot 【カポジ肉腫】*Kaposi's sarcoma 【カリウム血症】*kalemia 【カリウム欠乏症】*kaliopenia 【カリニ肺炎】*pneumocystis [medo.jp]

• Nausea

  […] neoplasm (＝悪性腫瘍) 【悪性組織球症】*malignant histiocytosis (略 MH) 【悪性中皮腫】*malignant mesothelioma 【悪性貧血】*pernicious anemia 【悪性黒子】*lentigo maligna[L] 【悪性黒子黒色腫】*lentigo maligna melanoma (略 LMM) 【悪性傍神経節腫】*malignant paraganglioma 【悪性リンパ腫】*malignant lymphoma 【悪心】*nausea [medo.jp]

• Thrombosis

  She also served as Co-Chair for the 2014 ASH Annual Meeting; as Co-Chair of the Research Committee of the Hemostasis & Thrombosis Research Society, and is a member of the Research Committee of the American Thrombosis & Hemostasis Network. [books.google.com]

  When PF is accompanied by large vessel venous thrombosis, heparin may be administering cautiously and concurrently with FFP [1]. [everydayebm.org]

  By their modifying the haemodynamics, these anatomical variants are the cause of the thrombosis. Disclosure of interest The authors declare that they have no conflicts of interest concerning this article. [em-consulte.com]

  Celiac artery thrombosis Miscellaneous HIV infection Graft-versus-host disease Bone marrow transplantation* Total parenteral nutrition High-dose steroid therapy In clinical practice, severe liver disease and celiac disease are probably the two most common [aafp.org]

  *lung thrombosis 【肺硬化症】*pneumosclerosis 【肺梗塞】*pulmonary infarction *lung infarction 【肺挫傷】*pulmonary contusion *lung contusion 【肺疾患】*pulmonary disease *lung disease 【肺出血】*pulmonary hemorrhage 【肺腫瘍】*lung tumor *lung neoplasm 【肺真菌症】*pneumomycosis 【肺水腫】【 [medo.jp]

• Hearing Impairment

  impairment *[＝聴力損失] hearing loss *bradyacusia *hypacusis (ニ) 【ニコチン性口内炎】*nicotinic stomatitis 【ニューモシスチス症】*pneumocystosis 【ニワトリ歩行】*steppage gait (＝鶏歩) (肉) 【肉眼的膿尿】*macropyuria 【肉芽腫】*granuloma 【肉芽腫症】*granulomatosis 【肉芽腫性口唇炎】*cheilitis granulomatosa 【肉腫】* [medo.jp]

• Erythema

  The initial clinical appearance of PF is well-demarcated, erythematous macules that progress rapidly to irregular areas of purple-black hemorrhagic necrosis surrounded by a thin border of erythema. [everydayebm.org]

  […] multiforme exudativum[L] 【多形滲出性紅斑様薬疹】*erythema multiforme exudativum-like drug eruption 【多形性紅斑】*erythema multiforme[L] 【多形性腺腫】*pleomorphic adenoma 【多形性肉腫】【多形型肉腫】*pleomorphic sarcoma 【多形皮膚萎縮症】*poikiloderma 【多血球症】*polyglobulism 【多血症】*polycythemia ^＝赤血球増加症 [medo.jp]

  Thirty percent of patients may have minor side effects from the vaccine, including localized erythema or myalgia at the injection site. [aafp.org]

• Aniridia

  Aniridia - cerebellar ataxia - intellectual disability Ankylosing spondylitis Anodontia Anomaly of chromosome 7 Anomaly of chromosome 16 Anophthalmia - microphthalmia Antiphospholipid syndrome Aorta coarctation Aplasia of lacrimal and salivary glands [sanfordresearch.org]

  SINDROME CARDIOFACCIALE DI CAYLER, DA CERTIFICARE CON CODICE RN1770) PALLISTER-KILLIAN, SINDROME DI (codice RN1590) SINDROME DEL "CRI DU CHAT" (codice RN0670) SINDROME DA DELEZIONE BRACCIO CORTO CROMOSOMA 5 SINDROME WAGR (codice RN1730) TUMORE DI WILMS - ANIRIDIA [retemalattierare.it]

  SINDROME DI DIGEORGE, DA CERTIFICARE CON RCG160 E SINDROME CARDIOFACCIALE DI CAYLER, DA CERTIFICARE CON RN1770) SINDROME DEL "CRI DU CHAT" (codice RN0670) SINDROME DA DELEZIONE BRACCIO CORTO CROMOSOMA 5 SINDROME WAGR (codice RN1730) TUMORE DI WILMS - ANIRIDIA [docplayer.it]

Although it is generally a benign condition, it can radiographically mimic malignancy and result in extensive workup and invasive procedures. Congenital asplenia is most often found in association with other developmental anomalies. [emedicine.medscape.com]

• Howell-Jolly Bodies

  Familial asplenia Howell-Jolly bodies Isolated congenital asplenia Pneumococcal sepsis This is a preview of subscription content, log in to check access. Preview Unable to display preview. Download preview PDF. [link.springer.com]

  Establishing the diagnosis of congenital isolated asplenia in the case of pneumococcal sepsis can be achieved by performing two easy and non-invasive investigations: searching for Howell-Jolly bodies on blood smears and performing ultrasound examination [ncbi.nlm.nih.gov]

  Clues for an early diagnosis of congenital asplenia are recurrentinvasive bacterial infections, Howell-Jolly bodies in the blood smear or a relative with congenital isolated asplenia. [dokumen.tips]

  Algorithm for work-up when Howell-Jolly bodies are noted on peripheral blood film. (RBC = red blood cell) Howell-Jolly Bodies Noted on a Peripheral Blood Film FIGURE 2. [aafp.org]

• Thrombocytosis

  His laboratory results were normal (including haemostasis) and in particular did not indicate thrombocytosis. Figure 1. Chest CTA: bilateral proximal pulmonary embolism (arrow). Dilatation of the azygos vein (star). [em-consulte.com]

  Chanet V, Tournilhac O, Dieu-Bellamy V et al (2000) Isolated spleen agenesis: a rare cause of thrombocytosis mimicking essential thrombocythemia. Haematologica 85:1211–1213 PubMed Google Scholar 8. [link.springer.com]

  Persistent and significant thrombocytosis associated with asplenia. This may contribute to the development of thromboembolic complications, especially in those with significant congenital cardiac abnormalities. [emedicine.medscape.com]

  It can be represented by pneumococcal sepsis, meningitis, sepsis of unknown origin, thrombocytosis [ 9 ]. Asplenia is also a risk factor for overwhelming sepsis [ 10, 11 ]. [omicsonline.org]

  【血管平滑筋肉腫】*angioleiomyosarcoma 【血管閉塞】*vascular obstruction 【血管破裂】*angiorrhexis 【血汗症】*hematohidrosis 【血球減少症】*hypocytosis 【血胸症】*hemothorax 【血行性膿瘍】*hematogenous abscess 【血色素症】*hemochromatosis 【血腫】*hematoma 【血小板鬱滞症】*thrombostasis 【血小板血症】*thrombocythemia *thrombocytosis [medo.jp]

• Streptococcus Pneumoniae

  The fatal evolution in the girl was due to Streptococcus pneumoniae serotype 23 with intermediate penicillin sensitivity 4 h after amoxicillin (100 mg/kg i.v.) administration. [link.springer.com]

  Final Diagnosis : Purpura Fulminans due to Streptococcus pneumoniae bacteremia Case Conclusion : The patient was treated with broad spectrum antibiotics and aggressively resuscitated. [everydayebm.org]

  The importance of this study is that many of these cases developed invasive bacterial infection early in childhood, most often involving Streptococcus pneumoniae (61%) with a high mortality rate (45%) (Mahaoudi N, et al. [pediatrics.aappublications.org]

  Synopsis overwhelming sepsis overwhelming haemophilus influenzae sepsis overwhelming pneumococcal infections (Streptococcus pneumoniae) congenital isolated asplenia Howell-Jolly bodies on blood smears See also splenic hypoplasia asplenia References Halbertsma [humpath.com]

Treatments can boost the immune system in many types of primary immunodeficiency disorders. Los tratamientos pueden estimular el sistema inmunitario en muchos tipos de trastornos de inmunodeficiencia primaria. [context.reverso.net]

Retrieved 18 June 2018. linked from https://www.lls.org/leukemia/chronic-lymphocytic-leukemia/treatment/splenectomy ^ Lowenbraun, Stanley (January 1971). [en.wikipedia.org]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

Six months after the treatment, the patient has reported no further episodes of gastrointestinal bleeding and his hemoglobin has remained stable. [unboundmedicine.com]

For instance, penicillin remains the drug of choice for the treatment of infection with C. canimorsus. 2, 5 TABLE 4 Empiric Treatment of Possible Overwhelming Postsplenectomy Infection The rightsholder did not grant rights to reproduce this item in electronic [aafp.org]

Because the prognosis for these patients must be optimistic, we recommend early documentation of splenic function in children suspected of having the asplenia syndrome, prophylactic antibiotics, and parent education. [ncbi.nlm.nih.gov]

Eur J Pediatr (2010) 169:315–318 Prognosis - Isolated congenital asplenia (ICA) Congenital isolated asplenia may be a minor form of situs abnormality or a separate entity due to a specific defect of spleen development. [checkorphan.org]

Skeletal dysmorphology is seen and severe prenatal and postnatal growth failure usually leads to death by one year of age, FCCX is most likely etiologically heterogeneous but RPS20 may be implicated in some cases Mutation In biology, a mutation is the [wikivisually.com]

Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare immune disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - Epidemiological [csbg.cnb.csic.es]

"Guidelines for the prevention and treatment of infection in patients with an absent or dysfunctional spleen. Working Party of the British Committee for Standards in Haematology Clinical Haematology Task Force". [en.wikipedia.org]

Prevention and management ofoverwhelming postsplenectomy infectionan update. [dokumen.tips]

Waghorn DJ (2001) Overwhelming infection in asplenic patients: Current best practice preventive measures are not being followed. J Clin Pathol 54: 214-218. [omicsonline.org]

True or false: All patients with primary immunodeficiency diseases require immunoglobulin replacement therapy to prevent infections. [context.reverso.net]

Science. doi:10.1126/science.1234864 Prevention - Isolated congenital asplenia (ICA) It is already known that congenital isolated asplenia is a rare condition, which is heterogeneous in its presentation. [checkorphan.org]