The Experts below are selected from a list of 360 Experts worldwide ranked by ideXlab platform
Jian-min Chen - One of the best experts on this subject based on the ideXlab platform.
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Severe infantile isolated exocrine pancreatic insufficiency caused by the complete functional loss of the SPINK1 gene
Human Mutation, 2017Co-Authors: Théa Venet, Emmanuelle Masson, Cécile Talbotec, Kareen Billiemaz, Renaud Touraine, Claire Gay, Sylvie Destombe, David Cooper, Hugues Patural, Jian-min ChenAbstract:Exocrine pancreatic insufficiency (EPI) is rare in children, with most if not all cases occurring as part of syndromic conditions such as cystic fibrosis and Shwachman-Diamond syndrome. Here we report two cases, both presenting with severe EPI around 5 months of age. Characterized by diffuse pancreatic lipomatosis, they otherwise exhibited no remarkable deficiencies in other organs. Novel non-identical homozygous variants (a deletion removing the entire SPINK1 gene and an insertion of a full-length inverted Alu element into the 3'-untranslated region of the SPINK1 gene) resulting in the complete functional loss of the SPINK1 gene (encoding pancreatic secretory trypsin inhibitor) were identified in each patient. Having correlated our findings with current knowledge of SPINK1's role in exocrine pancreas pathophysiology, we propose that complete and partial functional losses of the SPINK1 gene are associated with quite distinct phenotypes, the former causing a new Pediatric Disease entity of severe infantile isolated EPI.
Birgitta Henriquesnormark - One of the best experts on this subject based on the ideXlab platform.
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sinusitis and pneumonia hospitalization after introduction of pneumococcal conjugate vaccine
Pediatrics, 2014Co-Authors: Ann Lindstrand, Ilias Galanis, Birgitta Henriquesnormark, Rutger Bennet, Margareta Blennow, Lina Schollin Ask, Sofia Hultman Dennison, Malin Ryd Rinder, M ErikssonAbstract:BACKGROUND AND OBJECTIVE: Streptococcus pneumoniae is a major cause of pneumonia and sinusitis. Pneumonia kills >1 million children annually, and sinusitis is a potentially serious Pediatric Disease that increases the risk of orbital and intracranial complications. Although pneumococcal conjugate vaccine (PCV) is effective against invasive pneumococcal Disease, its effectiveness against pneumonia is less consistent, and its effect on sinusitis is not known. We compared hospitalization rates due to sinusitis, pneumonia, and empyema before and after sequential introduction of PCV7 and PCV13. METHOD: All children 0 to RESULTS: Hospitalizations for sinusitis decreased significantly in children aged 0 to P P P = .002). Hospitalization for empyema increased nonsignificantly. Trend analyses showed increasing hospitalization for pneumonia in children 0 to CONCLUSIONS: PCV7 and PCV13 vaccination led to a 66% lower risk of hospitalization for sinusitis and 19% lower risk of hospitalization for pneumonia in children aged 0 to
Théa Venet - One of the best experts on this subject based on the ideXlab platform.
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Severe infantile isolated exocrine pancreatic insufficiency caused by the complete functional loss of the SPINK1 gene
Human Mutation, 2017Co-Authors: Théa Venet, Emmanuelle Masson, Cécile Talbotec, Kareen Billiemaz, Renaud Touraine, Claire Gay, Sylvie Destombe, David Cooper, Hugues Patural, Jian-min ChenAbstract:Exocrine pancreatic insufficiency (EPI) is rare in children, with most if not all cases occurring as part of syndromic conditions such as cystic fibrosis and Shwachman-Diamond syndrome. Here we report two cases, both presenting with severe EPI around 5 months of age. Characterized by diffuse pancreatic lipomatosis, they otherwise exhibited no remarkable deficiencies in other organs. Novel non-identical homozygous variants (a deletion removing the entire SPINK1 gene and an insertion of a full-length inverted Alu element into the 3'-untranslated region of the SPINK1 gene) resulting in the complete functional loss of the SPINK1 gene (encoding pancreatic secretory trypsin inhibitor) were identified in each patient. Having correlated our findings with current knowledge of SPINK1's role in exocrine pancreas pathophysiology, we propose that complete and partial functional losses of the SPINK1 gene are associated with quite distinct phenotypes, the former causing a new Pediatric Disease entity of severe infantile isolated EPI.
Steven L Zeichner - One of the best experts on this subject based on the ideXlab platform.
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covid 19 in children initial characterization of the Pediatric Disease
Pediatrics, 2020Co-Authors: Andrea T Cruz, Steven L ZeichnerAbstract:* Abbreviation: COVID-19 — : coronavirus Disease of 2019 The impact of the coronavirus Disease of 2019 (COVID-19), which is caused by the novel coronavirus, severe acute respiratory syndrome coronavirus 2,1 has been widespread, with >500 000 cases diagnosed in >170 countries since the virus was identified in January 2020.2 The preliminary data have been focused on severe respiratory manifestations, which are seen predominantly in adults, with scant initial data on the burden of COVID-19 in children.3 We, therefore, read with interest the findings of Dong et al,4 who reported in this issue of Pediatrics a series of >2000 children with suspected or confirmed COVID-19. The authors found that 4% of virologically confirmed cases had asymptomatic infection, and this rate almost certainly understates the true rate of asymptomatic infection because many children who are asymptomatic are unlikely to be tested. Among children who were symptomatic, 5% had dyspnea or hypoxemia (a substantially lower percentage than what has been reported for adults3), and 0.6% progressed to acute respiratory distress syndrome or multiorgan system dysfunction (a rate that is also lower than that seen in adults). Preschool-aged children and infants were more likely than older children to have severe clinical manifestations. There are several salient points … Address correspondence to Andrea T. Cruz, MD, MPH, Department of Pediatrics, Baylor College of Medicine, 6621 Fannin St, Suite A2210, Houston, TX 77030. E-mail: acruz{at}bcm.edu
Xiaotian Zheng - One of the best experts on this subject based on the ideXlab platform.
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detection of human parechovirus hpev 3 in spinal fluid specimens from Pediatric patients in the chicago area
Journal of Clinical Virology, 2011Co-Authors: Beth Walters, Silvia Penaranda, Allan W Nix, Steven M Oberste, Kathleen Todd, Ben Z Katz, Xiaotian ZhengAbstract:Abstract Background The human parechoviruses (HPeV) have recently been recognized as important viral pathogens causing various illnesses including sepsis and meningitis in children. However, data from the United States is limited. Objectives To better understand the epidemiology of HPeV in the United States and its role in Pediatric Disease through detection and typing of the virus in cerebrospinal fluid specimens. Study design Four hundred and twenty-one spinal fluid samples collected from 373 patients ranging in age from 1 day to 18 years were tested using a real-time reverse transcription-PCR assay. The specimens were originally collected for routine viral and bacterial testing to assist in the diagnosis of meningitis or sepsis. Amplification products of the VP1 region in the virus genome were sequenced to identify the parechovirus type. Results Ten positive specimens were identified from 10 different patients. All ten samples were typed as HPeV3 and were negative for bacteria by culture, and for enterovirus and herpes simplex virus by PCR. All of the HPeV3-infected patients were young infants ranging in age from 6 to 59 days. Infants in whom HPeV3 was detected had significantly decreased peripheral white blood cell counts. Positive specimens were all from the summer and early fall. Conclusions HPeV3 infection of the central nervous system is found in very young infants in certain years during the summer and early fall, and is associated with leukopenia. Real-time RT-PCR is an effective tool for rapid detection of these infections, and could help prevent unnecessary hospitalization and antibiotic use in HPeV infected infants. More widespread use of this tool in diagnosing HPeV infection would aid in further clarifying the prevalence of this Disease in the United States.
