Introduction: Aplastic anemia (AA) is a rare syndrome of bone marrow failure characterized by peripheral blood pancytopenia and marrow aplasia. We report the clinical course and therapeutic approach of children with AA, who were treated in our Department within the last 4 years. Methods: Fifteen children (9 males/ 6 females) of mean age 7.64 years (range: 2 to 15 years) were diagnosed in our unit with AA since 2012. Diagnosis was established by bone marrow aspirate and biopsy and a normal bone marrow karyotype. Evaluation for underlying bone marrow failure syndromes, including Fanconi anemia, Shwachman-Diamond syndrome and paroxysmal nocturnal hemoglobinuria was performed in all cases. Results: Four children were identified with Fanconi anemia, both by cytogenetic and molecular analysis. Eleven children were diagnosed with acquired aplastic anemia (AAA); one probably after treatment with NSAIDs, one patient presented after influenza virus infection, while two patients presented also with transaminasemia of unknown etiology. First line therapy was hematopoietic stem-cell transplantation (HSCT), should an appropriate graft be available. In this respect, three patients (N: 3/4 ) with Fanconi anemia and one patient (N:1/11) with AAA were transplanted from a fully-matched sibling donor. One patient with AAA received autologous cord blood. The remaining ten patients (N: 10/15) received standard immunosuppressive therapy (antithymocyte globulin, cyclosporine-A and methylprednisolone). Eight of the 9 evaluable patients responded to therapy. Six of these patients also received treatment with eltrombopag, an oral thrombopoietin-receptor agonist, for at least six months. Eltrombopag was provided as off-label compassionate use and after having received approval from regulatory authorities. In these 6 patients, treatment with eltrombopag was well tolerated with no additive toxicity. Five patients showed progressive improvement of hematological values during the treatment with eltrombopag. Two patients with AAA, did not respond to immunosuppressive therapy, and subsequently underwent MUD-HSCT. One succumbed due to severe autoimmune hemolytic anemia, while the second has showed good engraftment, but with short post-BMT follow up time. Of note is, that one patient with Fanconi anemia showed full hematological recovery after immunosuppressive treatment. This patient, who was found to be homozygous for a FANC-E mutation, did not have any clinical stigmata. It is speculated that the unusual response to therapy may be due to its very mild clinical phenotype. Conclusions: Survival rates in severe AA have remarkably improved in the last decades due to allo-HSCT, immunosuppressive therapy and intense supportive care. This small series of children with AA underlines the option of new effective modalities. The use of autologous umbilical cord blood should be considered as an alternative first line therapy. Eltrombopag seems to improve platelet count and result in a tri-lineage response, in a manner similar to the one observed in adults with AA. Finally, the efficacy of immunosuppressive treatment in a patient with Fanconi anemia has not been previously described and warrants further evaluation. Disclosures Kattamis: Novartis: Honoraria, Research Funding; ApoPharma: Honoraria.
Background and aimsNeonatal infections (NI) among newborn during the neonatal period, may be contracted by transplacental transfer in utero, in the birth canal during delivery (perinatal), or by other means after birth. It is a retrospective recording of early and late NI of neonates hospitalised in pre-NICU during 2015–2016.MethodsRecording of the cases of NI according to the ICD-10 system and excel editing.Results118 cases of NI have been collected, 61 (2015), 57 (2016), 38 females (33, 3%) and 80 males (67, 7%), in total. The neonates were referred from the OBGyn Department of Achillopouleio General Hospital(61,8%), the delivery room of the same hospital(24,5%), OBGyn Department of private hospitals(5,9%), paediatric private practice(6,7%) and 1 baby was born on board. 47,5%(56) had normal-labour and 52, 5%(62) cesarian-section. The amniotic fluid was dirty in 16%(19) and clear in 84% (99). The day of admission in the hospital was on the 1st, 2nd, 3rd and >4th day of life( 57%(67), 21%(25), 4%(5), 7%(8) and 11%(13), respectively). Blood cultures were done on all the babies on admission (positive with S. Epidermidis(0,85%). Other body fluid cultures included: Urine culture (22,8%), culture of faeces(1,69%), and orbital fluid(1,69%) with negative results. 11% (13) had lumbar puncture (0,84% positive for S. saprophyticus). 32,2%(38) neonates with TORCH investigation( 0,84% was positive for HSV). The clinical features on admission were lethargy 8,47%(10), feeding problems 16,9%(20), vomiting 9,3%(11), grunting 14,4%(17), tremor 3,38%(4), jaundice 16,9%(20), respiratory distress 9,3%(11), pallor 22%(26), apnea 13,5%(16), bloody faeces 0,85%(1), bradycardia 2,5%(3), hypoglycemia 0,85%(1), acrocyanosis 3,38%(4) and skin problems 2,5%(3). Lab results showed elevated CRP (>10):42,3% (50) and elevated WBC (>20000):31,3%(37), respectively. The drug treatment provided was: Ampicilline-Amicacine for 3 days (11,4%), 5 days(43,2%) and the rest different duration and combination of drug treatment.ConclusionThe Department of Paediatrics personnel treated successfully the cases of NI, despite the absence of a neonatologist. Only 3 cases per year needed reference to tertiary hospital for further management. The admission criteria followed NICE guidelines.
Background and aimsNeonatal infections (NI) among newborn during the neonatal period, may be contracted by transplacental transfer in utero, in the birth canal during delivery (perinatal), or by other means after birth. It is a retrospective recording of early and late NI of neonates hospitalised in pre-NICU during 2015–2016.MethodsRecording of the cases of NI according to the ICD-10 system and excel editing.Results118 cases of NI have been collected, 61 (2015), 57 (2016), 38 females (33, 3%) and 80 males (67, 7%), in total. The neonates were referred from the OBGyn Department of Achillopouleio General Hospital(61,8%), the delivery room of the same hospital(24,5%), OBGyn Department of private hospitals(5,9%), paediatric private practice(6,7%) and 1 baby was born on board. 47,5%(56) had normal-labour and 52, 5%(62) cesarian-section. The amniotic fluid was dirty in 16%(19) and clear in 84% (99). The day of admission in the hospital was on the 1st, 2nd, 3rd and >4th day of life( 57%(67), 21%(25), 4%(5), 7%(8) and 11%(13), respectively). Blood cultures were done on all the babies on admission (positive with S. Epidermidis(0,85%). Other body fluid cultures included: Urine culture (22,8%), culture of faeces(1,69%), and orbital fluid(1,69%) with negative results. 11% (13) had lumbar puncture (0,84% positive for S. saprophyticus). 32,2%(38) neonates with TORCH investigation( 0,84% was positive for HSV). The clinical features on admission were lethargy 8,47%(10), feeding problems 16,9%(20), vomiting 9,3%(11), grunting 14,4%(17), tremor 3,38%(4), jaundice 16,9%(20), respiratory distress 9,3%(11), pallor 22%(26), apnea 13,5%(16), bloody faeces 0,85%(1), bradycardia 2,5%(3), hypoglycemia 0,85%(1), acrocyanosis 3,38%(4) and skin problems 2,5%(3). Lab results showed elevated CRP (>10):42,3% (50) and elevated WBC (>20000):31,3%(37), respectively. The drug treatment provided was: Ampicilline-Amicacine for 3 days (11,4%), 5 days(43,2%) and the rest different duration and combination of drug treatment.ConclusionThe Department of Paediatrics personnel treated successfully the cases of NI, despite the absence of a neonatologist. Only 3 cases per year needed reference to tertiary hospital for further management. The admission criteria followed NICE guidelines.
IntroductionJuvenile Idiopathic Arthritis is a chronic inflammatory disease associated with arthritis of unknown origin that appers before the age of 16 and persists for more than 6 weeks. It is the most common rheumatic disease in children and is characterised by eterogeneity.PurposeThe description of three cases of JIA diagnosed at our paediatric department, according to demographic and other factors.MethodThe first case refers to a 2 year old young girl admitted to our department due to prolonged fever and lameness. The laboratory tests revealed elevates ECR levels. As far as the other two patients are concerned, they were boys, 4 and 7 years old respectively, that were both admitted due to joint pain and lameness. The laboratory tests revealed elevates ECR levels, but the articular punctures were not diagnostic.ResultsSpecific immunology tests were performed to all the patients. Positive ANA and anti-dsDNA Ab were found at the girl. Eye examination revealed iridocyclitis, while ultrasound showed synovitis. JIA was confirmed and treatment started with methotrexate. MRI was performed to both boys, that revealed significant ammount of fluid at the affected joint. JIA was an on exclusion diagnosis and treatment included per os corticosteroids and methotrexate.ConclusionJIA is an entity that should be taken into concideration when monoathritis, lameness or prolonged fever is investigated. Being connected to bony deformity and growth retardation, prompt diagnosis and treatment are of great value.
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