Severe congenital neutropenia
Recurrence of Neonatal Lupus Post-Cord Blood Transplant for Severe Congenital Neutropenia
... NLE-associated neutropenia is considered transient and benign, neutropenia caused by severe congenital neutropenia (SCN) is life- ...neonatal neutropenia can be challenging ...
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Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype in two patients with two novel mutations
... Severe Congenital Neutropenia type 4 (SCN4, OMIM 612541) is a rare autosomal recessive disease due to mutations in the G6PC3 ...comprises neutropenia of variable severity and other anomalies ...
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Clinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French severe congenital neutropenia registry
... Our report adds not only a significant number of cases but also several important morbid associations. We describe 14 patients from 8 families, in which six patients are consanguineous. This neutropenia presents a ...
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Functional characteristics of circulating granulocytes in severe congenital neutropenia caused by ELANE mutations
... SCN1 [5, 6, 10, 14, 15]. However, our data obtained from one SCN4 patient indicate that increased eosinophils is not a general phenomenon for all types of SCN. For the SCN4 patient, as well as other ...
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Congenital neutropenia: diagnosis, molecular bases and patient management
... chronic neutropenia, G-CSF is sometimes administered in the long term for aplastic ...with severe congenital neutropenia who receive chronic G-CSF therapy ...But, severe ...
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Pathogenesis of ELANE mutant severe neutropenia revealed by induced pluripotent stem cells
... cyclic neutropenia, with cycles of neutropenia every 21 days ...sorting Severe congenital neutropenia (SCN) is often associated with inherited heterozygous point mutations in ELANE, ...
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Investigation of the molecular pathogenesis of Kostmann's syndrome
... a severe febrile diarrhoeal illness, one of whom had a history of recurrent infection and ...persistent severe gingivitis and recurrent ear infections, requiring courses of oral antibiotics virtually every ...
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Clostridium septicum Myonecrosis in Congenital Neutropenia
... ABSTRACT. Severe congenital neutropenia (SCN) and Clostridium septicum myonecrosis is an uncommon and life-threatening association requiring urgent combined aggressive medical and surgical ...a ...
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Severe neutropenia in a breastfed infant: a case report and discussion of the differential diagnosis
... Neonatal neutropenia is regularly seen with variable ...of severe isolated neu- ...isolated neutropenia persisted. Bone marrow aspiration indicated severe congenital ...with ...
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Main Determinants of Severe Neutropenia in Patients with Solid Tumors Receiving Adjuvant Chemotherapy
... had severe neutropenia (Figure ...without severe neutropenia was ...with severe neutropenia and only ...with severe neutropenia and patients without severe ...
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Levamisole tainted cocaine causing severe neutropenia in Alberta and British Columbia
... Despite public health notification and media interest in both provinces the true burden of NATC is likely underes- timated by voluntary reporting of NATC cases by clini- cians. As levamisole has a short half-life ...
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INCIDENCES OF CHEMOTHERAPY-INDUCED NEUTROPENIA AND ITS ASSOCIATION WITH TREATMENT OUTCOMES
... chemotherapy-induced neutropenia in patients with solid tumors in ...0-2 neutropenia and Group 2 was for patients with grade 3-4 ...3-4 neutropenia were observed in the patients with the first time ...
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Biosimilars in the management of neutropenia: focus on filgrastim
... Abstract: Advances in chemotherapy and surgery allows the majority of patients to survive cancer diseases. Yet, the price may be a proportion of patients dying of complications due to treatment-induced infectious ...
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External Validation of Six Pediatric Fever and Neutropenia Clinical Decision Rules
... The rationale for risk prediction in FN is to tailor treatment strategies according to the likelihood of having a documented infection or adverse outcome. This will avoid over treatment of children with viral illness or ...
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Congenital Zika virus syndrome…what else? Two case reports of severe combined fetal pathologies
... of severe fetal pathologies managed in our multidisciplinary center during the ZIKV outbreak in Martinique, a French Caribbean ...had congenital ZIKV infection confirmed by ...ZIKV congenital ...
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Recurrence rate of radial deviation following the centralization surgery of radial club hand
... ment for more severe cases, in which the carpus is surgi- cally moved to the central portion of the distal ulna to correct radial deviation and wrist subluxation. This tech- nique has been used and recognized as ...
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Clozapine-Induced Late Agranulocytosis and Severe Neutropenia Complicated with Streptococcus pneumonia, Venous Thromboembolism, and Allergic Vasculitis in Treatment-Resistant Female Psychosis
... Clozapine can induce two clinically distinct types of neu- tropenia [19]. The first type is a mild to moderate neutropenia (neutrophil count below 1.5 ∗ 10 3 /𝜇L but not lower than 0.5 ∗ 10 3 /𝜇L) which occurs in ...
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Segmental Spinal Dysgenesis: Neuroradiologic Findings with Clinical and Embryologic Correlation
... lothoracic dysostosis has autosomal recessive in- heritance, and early infantile death from lethal respiratory infections is common. Radiologically, vertebral defects usually involve the entire spine, with predominance ...
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A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3mutations
... Echocardiogram, renal and pelvic ultrasound scans should be performed in all cases of suspected or con- firmed G6PC3 deficiency. Expert advice in management of congenital heart defects and genito-urinary problems ...
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CONGENITAL LUNG CYSTS IN INFANTS
... The diagnosis and treatment of congenital lung cysts producing severe symptoms are. discussed[r] ...
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