Research in Pediatrics & Neonatology最新文献

{"title":"Case of Resistant Epileptic Encephalopathy a Child with Microcephalic Capillary Malformation Syndrome","authors":"Sсhugareva Lm, Shumeeva Ag","doi":"10.31031/RPN.2019.03.000564","DOIUrl":"https://doi.org/10.31031/RPN.2019.03.000564","url":null,"abstract":"of presented with the early-onset drug-resistant epilepsy, microcephaly, spastic tetraplegia, profound developmental delay, multiple small capillary hemangiomas in the skin, hypoplasia of fingers. A novel homozygous mutation of STAMBP gene (c188A>G; chr2:74058171rs781694797) in exon 2 was revealed. The same mutation was found in both parents. The antiepileptic drug combination therapy was given.","PeriodicalId":153075,"journal":{"name":"Research in Pediatrics & Neonatology","volume":"26 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2019-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"130451571","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Early Diagnostics of Congenitated Conscious False Hernia Own Diaphragm","authors":"Rayanov Nv, Rayanova Rn","doi":"10.31031/RPN.2019.03.000563","DOIUrl":"https://doi.org/10.31031/RPN.2019.03.000563","url":null,"abstract":"Congenital diaphragmatic hernia (EDC) is a malformation of the thoracic-abdominal barrier, in which the abdominal organs are transported into the chest through the natural pathological openings in the diaphragm. The frequency of occurrence in newborns is 1: 2500-1: 5000, which is 8% of all congenital anomalies. Diaphragmatic hernia is divided into three main groups: hernia proper diaphragm (false, true), hiatal hernia (true), hernia of the anterior part of the diaphragm. The article presents a clinical case of early diagnosis of congenital false hernia of the diaphragm itself.","PeriodicalId":153075,"journal":{"name":"Research in Pediatrics & Neonatology","volume":"82 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2019-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"115764237","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Impact of Kangaroo Mother Care, Music Therapy and Psychological Support to Mothers of VLBW Preterm Newborns on The Breast Milk Production and Neonatal Outcome: Our Experience","authors":"P. Betta","doi":"10.31031/RPN.2019.03.000561","DOIUrl":"https://doi.org/10.31031/RPN.2019.03.000561","url":null,"abstract":"Background: Kangaroo mother care (KMC) is a method of care of preterm and low birth weight infants. The method involves infants being carried, usually by the mother, with skin-to-skin contact. Objectives: We evaluated the hypothesis that KMC could have beneficial effects on breast milk (BM) production, neonatal neurological development and onset of ROP. We also evaluated the type of lactation during and after hospitalization and the duration of admission in the two groups. Methods: Our sample was made of 46 mothers of 46 preterm newborns (gestational age <34 weeks, birth weight <1500g) admitted at our NICU. They were divided into 2 groups: Group A, made of 23 mothers who have performed a regular extraction of BM and KMC in a dedicated space with a psychological support; group B, made of 23 mothers who have not performed a regular extraction of BM and KMC in a similar setting. Results: The average amount of BM extracted by mothers in group A was greater than group B. Moreover, the comparative analysis showed that 78% of newborns who performed an efficient KMC had a significantly better neurological outcome (p <0.05). A statistically significant difference (p <0.05) was found in the percentage of mothers who continued breastfeeding after discharge (A 52% versus B 26%). The average length of hospital stay was lower in the group A than group B (p <0.05). On the other hands there were no statistically significant differences between the two groups concerning the onset of ROP. Conclusion: KMC performed in comfortable settings with the help of psychological support figures increases the production of BM, promotes the continuation of breastfeeding at the time of discharge and improves the neurological outcome of preterm infants.","PeriodicalId":153075,"journal":{"name":"Research in Pediatrics & Neonatology","volume":"20 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2019-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"131870877","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Primary Renal Hydatid Cyst in Children: A Case Report","authors":"A. Jabloun, H. Bouthour, R. Abdallah, F. Trabelsi, Riadh Ben Malek, N. Kaâbar","doi":"10.31031/RPN.2019.03.000562","DOIUrl":"https://doi.org/10.31031/RPN.2019.03.000562","url":null,"abstract":"Echinococcosis is a prevalent zoonosis in endemic region in the world. Although echinococcosis can be present in all parts of the human body, renal echinococcosis is relatively uncommon compared to liver and lung localizations. Its diagnosis is sometimes problematic. There are no specific clinical symptoms or positive result in a routine laboratory analysis that will reliably confirm the diagnosis of renal echinococcus. In this study, a primary right renal hydatic cyst which was found in a 7-year-old girl has been presented. The patient was treated successfully by open surgery in combination with postoperative chemotherapy with albendazole. Physicians should be aware of its clinical presentations and complications.","PeriodicalId":153075,"journal":{"name":"Research in Pediatrics & Neonatology","volume":"49 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2019-03-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"122627928","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Dandy-Walker Syndrome – A Case Report","authors":"Halyna Bulak, Dzvenyslava Kopanska","doi":"10.31031/RPN.2019.03.000560","DOIUrl":"https://doi.org/10.31031/RPN.2019.03.000560","url":null,"abstract":"The number of congenital malformations, which are the main cause of early childhood mortality and disability has grown significantly over the past ten years. Congenital anomalies resulting in serious disorders often accompany pathology of the brain. The results of clinical observation of the patient with significant malformation of the central nervous system Dandy-Walker syndrome, have been presented in this paper. Dandy-Walker syndrome occurs in one out of every 25,000 live births but is still not fully understood.","PeriodicalId":153075,"journal":{"name":"Research in Pediatrics & Neonatology","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2019-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"129088814","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Rare Cause of Cytopenias in Childhood: Paroxysmal Nocturnal Hemoglobinuria","authors":"B. Yılmaz","doi":"10.31031/rpn.2019.03.000559","DOIUrl":"https://doi.org/10.31031/rpn.2019.03.000559","url":null,"abstract":"Paroxysmal nocturnal hemoglobinuria (PNH) is a rare hematopoietic stem cell disorder characterized by hemolysis, thrombosis and impaired bone marrow functions. PNH is rarely seen in childhood and usually presents with hypoplastic/aplastic anemia clinic. If the major clinical finding is hemolysis, eculizumab (monoclonal anti-C5 immunoglobulin) can be used for treatment. The other treatment options for PNH are immunosuppressive therapy and stem cell transplantation (SCT). Fluorescent aerolysin (FLAER)-based assay is a high sensitivity test for PNH diagnosis in children. FLAER has become the gold standard for the diagnosis and follow-up of PNH get today. Res Pediatr Neonatol Copyright © Baris Yilmaz 229 How to cite this article: Baris Y. A Rare Cause of Cytopenias in Childhood: Paroxysmal Nocturnal Hemoglobinuria. Res Pediatr Neonatol. 3(2). RPN.000559.2019. DOI: 10.31031/RPN.2019.03.000559 Volume 3 Issue 2 found in radiological examinations. During the follow-up period, the patient had developed diarrhea and microscopic examination of feces contained no leukocytes and no pathological agents. In feces, Clostridium difficile toxins A and B, Adenovirus, Rotavirus, Giardia and Entamoeba histolytica antigens were screened and resulted to be negative. In blood serological tests, Anti Hbs and Anti CMV IgG were positive and all other serological tests were negative. Parvovirus IgM and IgG and Anti HIV1 / 2 + p24 Ag were negative. During the follow-up period, the patient had significant clinical improvement and blood, CSF, urine cultures remained to be negative (no growth is seen), therefore patient was discharged, and a polyclinic follow-up was scheduled for her. One week later, she was diagnosed with acute leukemia, aplastic anemia, hypoplastic myelodysplastic syndrome (MDS) though bone marrow aspiration and biopsy. Microscopic examination of bone marrow aspiration with Giemsa staining revealed severe hypocellular bone marrow, which consisted of cells those exhibit uninterrupted maturation. Bone marrow contained each series of cells but displayed predominantly decreased myeloid series (Myeloid / Erythroid series ratio: 1/3). There were dysmorphic changes in the erythroid series. Plastic cell ratio was <1%. Immunophenotypic analysis of bone marrow aspiration material by flow cytometry revealed lymphocytes in 45% and non-lymphocyte mononuclear cells in 4%. Lymphocytes were predominantly composed of T lymphocytes (29%). 2% of the total cells were monocytes and 2% of all cells were myeloid progenitor cells. In the biopsy report from the pathology, it was learned that the cell / fat ratio was 15/85, there were no ring side oblasts, the dyeable iron level was <1+ and the patient was diagnosed with aplastic anemia. For the differential diagnosis of aplastic anemia, DEB test was performed and resulted as negative, MDS panel (monosomy 5 and 7, trisomy 5 and 8, 5q-, 7q-) resulted as negative; patient’s karyotype was found to be 46XX as expected. By using flow cytom","PeriodicalId":153075,"journal":{"name":"Research in Pediatrics & Neonatology","volume":"20 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"125540449","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Presentation and Management of HHV6 Infection in a 32 Days Old Baby","authors":"El Ahmar Malak, Srour Sara, Hanna pielly, Beih Farah, Sacy Robert, I. Nada","doi":"10.31031/RPN.2018.03.000557","DOIUrl":"https://doi.org/10.31031/RPN.2018.03.000557","url":null,"abstract":"Background: Human herpesvirus 6 (HHV-6), commonly known to cause the childhood disease roseola and nonspecific viral illness, has been known to cause serious neurological complications including fever induced seizures and encephalitis with possible long-term sequelae especially in immunocompromised patients. Purposes: To report a rare case of HHV-6 meningitis in a 32-day old male infant and the challenging therapeutic approach required to treat and manage this condition. Case summary: A 32-day old male infant presented with one episode of high-grade fever and bulging anterior fontanel in the absence of skin rashes. Blood tests were normal but lumbar puncture done at admission revealed lymphocytic pleocytosis secondary to acute HHV-6 confirmed by CSF PCR. Data indicating appropriate treatment in this age group is limited. In this case, the patient received Ganciclovir IV for 14 days and showed clinical improvement. Conclusion: Treatment of HHV-6 meningitis with ganciclovir is recommended for immunocompromised patients, including immune deficient patients, and those receiving chemotherapy or prolonged course of steroid. However, literature does not support any specific treatment for immunocompetent children. No data or clear recommendations are currently available for the treatment of neonates with HHV-6 meningitis. Should neonates be thought of as immunocompromised hosts and be treated with Ganciclovir or should they only receive supportive treatment? More studies are required to have an evidence based antiviral treatment in this age group.","PeriodicalId":153075,"journal":{"name":"Research in Pediatrics & Neonatology","volume":"11 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"126865437","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Acute Pneumonia: What Infection We’re Treating?","authors":"I. Klepikov","doi":"10.31031/RPN.2018.03.000558","DOIUrl":"https://doi.org/10.31031/RPN.2018.03.000558","url":null,"abstract":"Dear colleagues, the assessment of the events and phenomena taking place around us, as well as the nature of the reaction to them are determined by the existing ideas and views on the essence of what is happening. As the old postulate of philosophy says: “Ideas rule the world”. This Maxim is relevant for all spheres and branches of our life, including medicine. In the latter case, conceptual ideas about the nature of the disease determine the direction and nature of medical care. It is no secret that the deeper and more specific our knowledge about the causes and mechanisms of the development of the painful process, the higher the chances of achieving maximum success in its treatment. In this context, the modern understanding of the nature of acute pneumonia (АР) raises many questions, to which there are actually no reasoned answers in the available literature.","PeriodicalId":153075,"journal":{"name":"Research in Pediatrics & Neonatology","volume":"36 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"129320547","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Relevance of Single Step Gastric Aspirate Shake Test in Management of Respiratory Distress Syndrome in Preterm Babies and Neonatal Mortality in Rural Setup","authors":"R. Jaswal, Shikha Verma","doi":"10.31031/RPN.2018.03.000555","DOIUrl":"https://doi.org/10.31031/RPN.2018.03.000555","url":null,"abstract":"This study was conducted Abstract The morbidity and mortality due to preterm births is significant, one of the handicaps of preterm delivery is respiratory distress syndrome (hyaline membrane disease). The timely recognition and referral of these babies from peripheral institutions to tertiary care centers of utmost importance for further management. This study was conducted to highlight the application of this forgotten simple, cheap and sensitive single step gastric aspirate shake test.","PeriodicalId":153075,"journal":{"name":"Research in Pediatrics & Neonatology","volume":"31 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"121452194","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Early Interventions for Infants with Clinical Signs of Cerebral Palsy","authors":"Puneet Wadhwa","doi":"10.31031/RPN.2018.03.000553","DOIUrl":"https://doi.org/10.31031/RPN.2018.03.000553","url":null,"abstract":"In a bid to construct an all-encompassing definition of the multi-faceted condition that is cerebral palsy (CP), The Study of Cerebral Palsy in Europe (SCPE) and the American Academy for Cerebral Palsy and Developmental Medicine (AACPDM) have attempted a unifying definition, as follows: “Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to non-progressive disturbances that occurred in the developing foetal or infant brain. The motor disorders are often accompanied by disturbances of sensation, perception, cognition, communication and behavior; by epilepsy and by secondary musculoskeletal problems” [1].","PeriodicalId":153075,"journal":{"name":"Research in Pediatrics & Neonatology","volume":"66 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"126208320","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}