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Showing 1 - 200 of 339 Journals sorted alphabetically
Abstract and Applied Analysis     Open Access   (Followers: 3, SJR: 0.343, CiteScore: 1)
Active and Passive Electronic Components     Open Access   (Followers: 7, SJR: 0.136, CiteScore: 0)
Advances in Acoustics and Vibration     Open Access   (Followers: 36, SJR: 0.147, CiteScore: 0)
Advances in Aerospace Engineering     Open Access   (Followers: 53)
Advances in Agriculture     Open Access   (Followers: 9)
Advances in Artificial Intelligence     Open Access   (Followers: 15)
Advances in Astronomy     Open Access   (Followers: 39, SJR: 0.257, CiteScore: 1)
Advances in Bioinformatics     Open Access   (Followers: 17, SJR: 0.565, CiteScore: 2)
Advances in Biology     Open Access   (Followers: 9)
Advances in Chemistry     Open Access   (Followers: 23)
Advances in Civil Engineering     Open Access   (Followers: 43, SJR: 0.539, CiteScore: 1)
Advances in Computer Engineering     Open Access   (Followers: 4)
Advances in Condensed Matter Physics     Open Access   (Followers: 10, SJR: 0.315, CiteScore: 1)
Advances in Decision Sciences     Open Access   (Followers: 3, SJR: 0.303, CiteScore: 1)
Advances in Electrical Engineering     Open Access   (Followers: 31)
Advances in Electronics     Open Access   (Followers: 73)
Advances in Emergency Medicine     Open Access   (Followers: 12)
Advances in Endocrinology     Open Access   (Followers: 5)
Advances in Environmental Chemistry     Open Access   (Followers: 7)
Advances in Epidemiology     Open Access   (Followers: 8)
Advances in Fuzzy Systems     Open Access   (Followers: 5, SJR: 0.161, CiteScore: 1)
Advances in Geology     Open Access   (Followers: 19)
Advances in Geriatrics     Open Access   (Followers: 5)
Advances in Hematology     Open Access   (Followers: 11, SJR: 0.661, CiteScore: 2)
Advances in Hepatology     Open Access   (Followers: 2)
Advances in High Energy Physics     Open Access   (Followers: 19, SJR: 0.866, CiteScore: 2)
Advances in Human-Computer Interaction     Open Access   (Followers: 20, SJR: 0.186, CiteScore: 1)
Advances in Materials Science and Engineering     Open Access   (Followers: 30, SJR: 0.315, CiteScore: 1)
Advances in Mathematical Physics     Open Access   (Followers: 4, SJR: 0.218, CiteScore: 1)
Advances in Medicine     Open Access   (Followers: 3)
Advances in Meteorology     Open Access   (Followers: 21, SJR: 0.48, CiteScore: 1)
Advances in Multimedia     Open Access   (Followers: 2, SJR: 0.173, CiteScore: 1)
Advances in Nonlinear Optics     Open Access   (Followers: 6)
Advances in Numerical Analysis     Open Access   (Followers: 5)
Advances in Nursing     Open Access   (Followers: 30)
Advances in Operations Research     Open Access   (Followers: 12, SJR: 0.205, CiteScore: 1)
Advances in Optical Technologies     Open Access   (Followers: 4, SJR: 0.214, CiteScore: 1)
Advances in Optics     Open Access   (Followers: 5)
Advances in OptoElectronics     Open Access   (Followers: 6, SJR: 0.141, CiteScore: 0)
Advances in Orthopedics     Open Access   (Followers: 8, SJR: 0.922, CiteScore: 2)
Advances in Pharmacological Sciences     Open Access   (Followers: 8, SJR: 0.591, CiteScore: 2)
Advances in Physical Chemistry     Open Access   (Followers: 10, SJR: 0.179, CiteScore: 1)
Advances in Power Electronics     Open Access   (Followers: 32, SJR: 0.184, CiteScore: 0)
Advances in Preventive Medicine     Open Access   (Followers: 6)
Advances in Public Health     Open Access   (Followers: 24)
Advances in Regenerative Medicine     Open Access   (Followers: 3)
Advances in Software Engineering     Open Access   (Followers: 10)
Advances in Statistics     Open Access   (Followers: 4)
Advances in Toxicology     Open Access   (Followers: 2)
Advances in Tribology     Open Access   (Followers: 13, SJR: 0.265, CiteScore: 1)
Advances in Urology     Open Access   (Followers: 9, SJR: 0.51, CiteScore: 1)
Advances in Virology     Open Access   (Followers: 7, SJR: 0.838, CiteScore: 2)
AIDS Research and Treatment     Open Access   (Followers: 3, SJR: 0.758, CiteScore: 2)
Analytical Cellular Pathology     Open Access   (Followers: 2, SJR: 0.886, CiteScore: 2)
Anatomy Research Intl.     Open Access   (Followers: 2)
Anemia     Open Access   (Followers: 5, SJR: 0.669, CiteScore: 2)
Anesthesiology Research and Practice     Open Access   (Followers: 14, SJR: 0.501, CiteScore: 1)
Applied and Environmental Soil Science     Open Access   (Followers: 17, SJR: 0.451, CiteScore: 1)
Applied Bionics and Biomechanics     Open Access   (Followers: 8, SJR: 0.288, CiteScore: 1)
Applied Computational Intelligence and Soft Computing     Open Access   (Followers: 13)
Archaea     Open Access   (Followers: 3, SJR: 0.852, CiteScore: 2)
Arthritis     Open Access   (Followers: 5, SJR: 0.454, CiteScore: 1)
Autism Research and Treatment     Open Access   (Followers: 26)
Autoimmune Diseases     Open Access   (Followers: 4, SJR: 0.805, CiteScore: 2)
Behavioural Neurology     Open Access   (Followers: 9, SJR: 0.786, CiteScore: 2)
Biochemistry Research Intl.     Open Access   (Followers: 6, SJR: 0.437, CiteScore: 2)
Bioinorganic Chemistry and Applications     Open Access   (Followers: 11, SJR: 0.419, CiteScore: 2)
BioMed Research Intl.     Open Access   (Followers: 4, SJR: 0.935, CiteScore: 3)
Biotechnology Research Intl.     Open Access   (Followers: 1)
Bone Marrow Research     Open Access   (Followers: 2, SJR: 0.531, CiteScore: 1)
Canadian J. of Gastroenterology & Hepatology     Open Access   (Followers: 5, SJR: 0.867, CiteScore: 1)
Canadian J. of Infectious Diseases and Medical Microbiology     Open Access   (Followers: 5, SJR: 0.548, CiteScore: 1)
Canadian Respiratory J.     Open Access   (Followers: 1, SJR: 0.474, CiteScore: 1)
Cardiology Research and Practice     Open Access   (Followers: 8, SJR: 1.237, CiteScore: 4)
Case Reports in Anesthesiology     Open Access   (Followers: 10)
Case Reports in Cardiology     Open Access   (Followers: 4, SJR: 0.219, CiteScore: 0)
Case Reports in Critical Care     Open Access   (Followers: 9)
Case Reports in Dentistry     Open Access   (Followers: 5, SJR: 0.229, CiteScore: 0)
Case Reports in Dermatological Medicine     Open Access   (Followers: 2)
Case Reports in Emergency Medicine     Open Access   (Followers: 14)
Case Reports in Endocrinology     Open Access   (Followers: 1, SJR: 0.209, CiteScore: 1)
Case Reports in Gastrointestinal Medicine     Open Access   (Followers: 2)
Case Reports in Genetics     Open Access   (Followers: 1)
Case Reports in Hematology     Open Access   (Followers: 4)
Case Reports in Hepatology     Open Access   (Followers: 1)
Case Reports in Immunology     Open Access   (Followers: 4)
Case Reports in Infectious Diseases     Open Access   (Followers: 5)
Case Reports in Medicine     Open Access   (Followers: 2)
Case Reports in Nephrology     Open Access   (Followers: 4)
Case Reports in Neurological Medicine     Open Access   (Followers: 1)
Case Reports in Obstetrics and Gynecology     Open Access   (Followers: 10)
Case Reports in Oncological Medicine     Open Access   (Followers: 2, SJR: 0.204, CiteScore: 1)
Case Reports in Ophthalmological Medicine     Open Access   (Followers: 3)
Case Reports in Orthopedics     Open Access   (Followers: 5)
Case Reports in Otolaryngology     Open Access   (Followers: 6)
Case Reports in Pathology     Open Access   (Followers: 5)
Case Reports in Pediatrics     Open Access   (Followers: 7)
Case Reports in Psychiatry     Open Access   (Followers: 13)
Case Reports in Pulmonology     Open Access   (Followers: 3)
Case Reports in Radiology     Open Access   (Followers: 9)
Case Reports in Rheumatology     Open Access   (Followers: 6)
Case Reports in Surgery     Open Access   (Followers: 11)
Case Reports in Transplantation     Open Access  
Case Reports in Urology     Open Access   (Followers: 9)
Case Reports in Vascular Medicine     Open Access  
Case Reports in Veterinary Medicine     Open Access   (Followers: 6)
Child Development Research     Open Access   (Followers: 17, SJR: 0.144, CiteScore: 0)
Chinese J. of Engineering     Open Access   (Followers: 2, SJR: 0.114, CiteScore: 0)
Chinese J. of Mathematics     Open Access  
Cholesterol     Open Access   (Followers: 1, SJR: 0.424, CiteScore: 1)
Chromatography Research Intl.     Open Access   (Followers: 6)
Complexity     Hybrid Journal   (Followers: 6, SJR: 0.531, CiteScore: 2)
Computational and Mathematical Methods in Medicine     Open Access   (Followers: 2, SJR: 0.403, CiteScore: 1)
Computational Intelligence and Neuroscience     Open Access   (Followers: 12, SJR: 0.326, CiteScore: 1)
Contrast Media & Molecular Imaging     Open Access   (Followers: 3, SJR: 0.842, CiteScore: 3)
Critical Care Research and Practice     Open Access   (Followers: 11, SJR: 0.499, CiteScore: 1)
Current Gerontology and Geriatrics Research     Open Access   (Followers: 9, SJR: 0.512, CiteScore: 2)
Depression Research and Treatment     Open Access   (Followers: 14, SJR: 0.816, CiteScore: 2)
Dermatology Research and Practice     Open Access   (Followers: 3, SJR: 0.806, CiteScore: 2)
Diagnostic and Therapeutic Endoscopy     Open Access   (SJR: 0.201, CiteScore: 1)
Discrete Dynamics in Nature and Society     Open Access   (Followers: 5, SJR: 0.279, CiteScore: 1)
Disease Markers     Open Access   (Followers: 1, SJR: 0.9, CiteScore: 2)
Economics Research Intl.     Open Access   (Followers: 1)
Education Research Intl.     Open Access   (Followers: 19)
Emergency Medicine Intl.     Open Access   (Followers: 9, SJR: 0.298, CiteScore: 1)
Enzyme Research     Open Access   (Followers: 4, SJR: 0.653, CiteScore: 3)
Evidence-based Complementary and Alternative Medicine     Open Access   (Followers: 20, SJR: 0.683, CiteScore: 2)
Game Theory     Open Access   (Followers: 1)
Gastroenterology Research and Practice     Open Access   (Followers: 2, SJR: 0.768, CiteScore: 2)
Genetics Research Intl.     Open Access   (Followers: 1, SJR: 0.61, CiteScore: 2)
Geofluids     Open Access   (Followers: 4, SJR: 0.952, CiteScore: 2)
Hepatitis Research and Treatment     Open Access   (Followers: 6, SJR: 0.389, CiteScore: 2)
HPB Surgery     Open Access   (Followers: 6, SJR: 0.824, CiteScore: 2)
Infectious Diseases in Obstetrics and Gynecology     Open Access   (Followers: 5, SJR: 1.27, CiteScore: 2)
Interdisciplinary Perspectives on Infectious Diseases     Open Access   (Followers: 1, SJR: 0.627, CiteScore: 2)
Intl. J. of Aerospace Engineering     Open Access   (Followers: 74, SJR: 0.232, CiteScore: 1)
Intl. J. of Agronomy     Open Access   (Followers: 6, SJR: 0.311, CiteScore: 1)
Intl. J. of Alzheimer's Disease     Open Access   (Followers: 11, SJR: 0.787, CiteScore: 3)
Intl. J. of Analysis     Open Access  
Intl. J. of Analytical Chemistry     Open Access   (Followers: 22, SJR: 0.285, CiteScore: 1)
Intl. J. of Antennas and Propagation     Open Access   (Followers: 11, SJR: 0.233, CiteScore: 1)
Intl. J. of Atmospheric Sciences     Open Access   (Followers: 21)
Intl. J. of Biodiversity     Open Access   (Followers: 4)
Intl. J. of Biomaterials     Open Access   (Followers: 4, SJR: 0.511, CiteScore: 2)
Intl. J. of Biomedical Imaging     Open Access   (Followers: 3, SJR: 0.501, CiteScore: 2)
Intl. J. of Breast Cancer     Open Access   (Followers: 13, SJR: 1.025, CiteScore: 2)
Intl. J. of Cell Biology     Open Access   (Followers: 3, SJR: 1.887, CiteScore: 4)
Intl. J. of Chemical Engineering     Open Access   (Followers: 8, SJR: 0.327, CiteScore: 1)
Intl. J. of Chronic Diseases     Open Access   (Followers: 1)
Intl. J. of Combinatorics     Open Access   (Followers: 1)
Intl. J. of Computer Games Technology     Open Access   (Followers: 10, SJR: 0.287, CiteScore: 2)
Intl. J. of Corrosion     Open Access   (Followers: 10, SJR: 0.194, CiteScore: 1)
Intl. J. of Dentistry     Open Access   (Followers: 6, SJR: 0.649, CiteScore: 2)
Intl. J. of Differential Equations     Open Access   (Followers: 7, SJR: 0.191, CiteScore: 0)
Intl. J. of Digital Multimedia Broadcasting     Open Access   (Followers: 5, SJR: 0.296, CiteScore: 2)
Intl. J. of Electrochemistry     Open Access   (Followers: 8)
Intl. J. of Endocrinology     Open Access   (Followers: 4, SJR: 1.012, CiteScore: 3)
Intl. J. of Engineering Mathematics     Open Access   (Followers: 5)
Intl. J. of Food Science     Open Access   (Followers: 4, SJR: 0.44, CiteScore: 2)
Intl. J. of Forestry Research     Open Access   (Followers: 3, SJR: 0.373, CiteScore: 1)
Intl. J. of Genomics     Open Access   (Followers: 2, SJR: 0.868, CiteScore: 3)
Intl. J. of Geophysics     Open Access   (Followers: 4, SJR: 0.182, CiteScore: 1)
Intl. J. of Hepatology     Open Access   (Followers: 5, SJR: 0.874, CiteScore: 2)
Intl. J. of Hypertension     Open Access   (Followers: 6, SJR: 0.578, CiteScore: 1)
Intl. J. of Inflammation     Open Access   (SJR: 1.264, CiteScore: 3)
Intl. J. of Inorganic Chemistry     Open Access   (Followers: 3)
Intl. J. of Manufacturing Engineering     Open Access   (Followers: 2)
Intl. J. of Mathematics and Mathematical Sciences     Open Access   (Followers: 3, SJR: 0.177, CiteScore: 0)
Intl. J. of Medicinal Chemistry     Open Access   (Followers: 6, SJR: 0.31, CiteScore: 1)
Intl. J. of Metals     Open Access   (Followers: 4)
Intl. J. of Microbiology     Open Access   (Followers: 4, SJR: 0.662, CiteScore: 2)
Intl. J. of Microwave Science and Technology     Open Access   (Followers: 3, SJR: 0.136, CiteScore: 1)
Intl. J. of Navigation and Observation     Open Access   (Followers: 20, SJR: 0.267, CiteScore: 2)
Intl. J. of Nephrology     Open Access   (Followers: 1, SJR: 0.697, CiteScore: 1)
Intl. J. of Oceanography     Open Access   (Followers: 7)
Intl. J. of Optics     Open Access   (Followers: 7, SJR: 0.231, CiteScore: 1)
Intl. J. of Otolaryngology     Open Access   (Followers: 3)
Intl. J. of Partial Differential Equations     Open Access   (Followers: 2)
Intl. J. of Pediatrics     Open Access   (Followers: 6)
Intl. J. of Peptides     Open Access   (Followers: 4, SJR: 0.46, CiteScore: 1)
Intl. J. of Photoenergy     Open Access   (Followers: 2, SJR: 0.341, CiteScore: 1)
Intl. J. of Plant Genomics     Open Access   (Followers: 4, SJR: 0.583, CiteScore: 1)
Intl. J. of Polymer Science     Open Access   (Followers: 24, SJR: 0.298, CiteScore: 1)
Intl. J. of Population Research     Open Access   (Followers: 3)
Intl. J. of Quality, Statistics, and Reliability     Open Access   (Followers: 15)
Intl. J. of Reconfigurable Computing     Open Access   (SJR: 0.123, CiteScore: 1)
Intl. J. of Reproductive Medicine     Open Access   (Followers: 4)
Intl. J. of Rheumatology     Open Access   (Followers: 4, SJR: 0.645, CiteScore: 2)
Intl. J. of Rotating Machinery     Open Access   (Followers: 2, SJR: 0.193, CiteScore: 1)
Intl. J. of Spectroscopy     Open Access   (Followers: 7)
Intl. J. of Stochastic Analysis     Open Access   (Followers: 3, SJR: 0.279, CiteScore: 1)
Intl. J. of Surgical Oncology     Open Access   (Followers: 1, SJR: 0.573, CiteScore: 2)
Intl. J. of Telemedicine and Applications     Open Access   (Followers: 5, SJR: 0.403, CiteScore: 2)
Intl. J. of Vascular Medicine     Open Access   (SJR: 0.782, CiteScore: 2)
Intl. J. of Zoology     Open Access   (Followers: 2, SJR: 0.209, CiteScore: 1)
Intl. Scholarly Research Notices     Open Access   (Followers: 192)
ISRN Astronomy and Astrophysics     Open Access   (Followers: 7)
J. of Addiction     Open Access   (Followers: 14)
J. of Advanced Transportation     Hybrid Journal   (Followers: 13, SJR: 0.581, CiteScore: 1)
J. of Aerodynamics     Open Access   (Followers: 12)

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Journal Cover
Case Reports in Pediatrics
Number of Followers: 7  

  This is an Open Access Journal Open Access journal
ISSN (Print) 2090-6803 - ISSN (Online) 2090-6811
Published by Hindawi Homepage  [339 journals]
  • Novel HAX1 Gene Mutation in a Vietnamese Boy with Severe Congenital

    • Abstract: Severe congenital neutropenia (SCN) is a rare disease that involves a heterogeneous group of hereditary diseases. Mutations in the HAX1 gene can cause an autosomal recessive form of SCN-characterized low blood neutrophil count from birth, increased susceptibility to recurrent and life-threatening infections, and preleukemia predisposition. A 7-year-old boy was admitted due to life-threatening infections, mental retardation, and severe neutropenia. He had early-onset bacterial infections, and his serial complete blood count showed persistent severe neutropenia. One older sister and one older brother of the patient died at the age of 6 months and 5 months, respectively, because of severe infection. Bone marrow analysis revealed a maturation arrest at the promyelocyte/myelocyte stage with few mature neutrophils. In direct DNA sequencing analysis, we found a novel homozygous frameshift mutation (c.423_424insG, p.Gly143fs) in the HAX1 gene, confirming the diagnosis of SCN. The patient was successfully treated with granulocyte colony-stimulating factor (G-CSF) and antibiotics. A child with early-onset recurrent infections and neutropenia should be considered to be affected with SCN. Genetic analysis is useful to confirm diagnosis. Timely diagnosis and suitable treatment with G-CSF and antibiotics are important to prevent further complication.
      PubDate: Tue, 27 Nov 2018 00:00:00 +000
  • Hemophagocytic Lymphohistiocytosis Associated with Salmonella typhi
           Infection in a Child: A Case Report with Review of Literature

    • Abstract: We present the case of an 8-year-old girl with hemophagocytic lymphohistiocytosis secondary to a Salmonella typhi infection. She received antibiotic treatment and intravenous immunoglobulin with complete resolution of the symptoms. We present a review of previously reported pediatric cases and propose a gradual approach to treatment.
      PubDate: Thu, 22 Nov 2018 00:00:00 +000
  • A Rare Cause of Acute Hepatopancreatitis in a Nepalese Teen

    • Abstract: Background. Acute pancreatitis (AP) coexisting with acute hepatitis (AH) in children is uncommon. Moreover, a single bacterial cause explaining both the complications is even rarer. Despite familiarity with the usual presentation of enteric fever, atypical presentations can go unnoticed. Case Presentation. A 16-year-old previously healthy male presented to the emergency unit with recurrent swinging pyrexia, abdominal symptoms, and jaundice for a week. Blood work-up revealed deranged liver function tests (LFTs) and elevated pancreatic enzymes. Further assessment with imaging made a diagnosis of AH and AP without necrosis. Blood culture positivity for Salmonella typhi eventually confirmed the diagnosis. Conclusion. This is an uncommon presentation of an infection that is fairly common in our part of globe. Nevertheless, early suspicion and recognition is the key to timely management. Regular follow-ups are required to pick complications up early.
      PubDate: Wed, 21 Nov 2018 00:00:00 +000
  • Dysmorphic Short Stature: Radiological Diagnosis of Trichorhinophalangeal

    • Abstract: Trichorhinophalangeal syndrome (TRPS), a type of skeletal dysplasia, is characterized by a triad of dysmorphic (bulbous nose and large ears); ectodermal (thin and sparse hair); and skeletal (short stature and cone-shaped epiphyses) findings, and this combination is helpful for early diagnosis and appropriate follow-up. A 14-year-old boy presented with short stature and distinctive facial features, and following the first clinical and biological evaluation, no precise diagnosis was reached. Progressive bilateral development of noninflammatory and painless deformity of his second finger required a radiological exam that highlighted the key elements (cone-shaped epiphyses) for final diagnosis. This case illustrates the difficulties to early recognition of TRPS when the clinical presentation is not complete and radiological findings are missing.
      PubDate: Wed, 21 Nov 2018 00:00:00 +000
  • 15q23 Gain in a Neonate with a Giant Omphalocele and Multiple Co-Occurring

    • Abstract: Background. Omphalocele is a rare congenital abdominal wall defect. It is frequently associated with genetic abnormality and other congenital anomalies, although isolated omphalocele cases do exist. Data have shown that omphalocele with co-occurring genetic abnormality has worse prognosis than isolated omphalocele. Chromosomal analysis by a conventional technique such as karyotyping can only detect aneuploidy and large segmental duplication or deletion. Newer techniques such as high-resolution microarray analysis allow for the study of alterations in chromosomal segments that are less than 5 Mb in length; this has led to identification of critical region and genes in the pathogenesis of omphalocele. Case Presentation. The current study is the initial report of a newborn male with a 15q23 gain and a giant omphalocele. High-resolution chromosomal microarray analysis identified this gain of copy number spanned 676 kb, involving almost the entire NOX5 gene (except for exon 1 of the longer transcript), the entirety of the EWSAT1, GLCE, PAQR5, KIF23, RPLP1, and DRAIC genes and exons 1–3 of the PCAT29 gene. Conclusion. To date, this is the first report of an associated 15q23 gain in a case with omphalocele. Interestingly, Giancarlo Ghiselli and Steven A Farber have reported that GLCE knockdown impairs abdominal wall closure in zebrafish. We also identified GLCE gene alteration in our case. This highlights the importance of GLCE in abdominal wall development. Further study of the function of GLCE and other genes might lead to a better understanding of the molecular mechanism of omphalocele.
      PubDate: Tue, 13 Nov 2018 00:00:00 +000
  • A Case of Upper Limb Osteomyelitis and Septic Arthritis Presenting as
           Pseudoparalysis in a Two-Week-Old

    • Abstract: Pseudoparalysis presenting in infants is a rare manifestation, where infection and trauma are the principle differentials. We present a case of a two-week-old baby boy with pseudoparalysis who was initially diagnosed as Erb’s palsy when presented in the emergency department and later re-presented with signs of sepsis. A later diagnosis of osteomyelitis of the humerus and septic arthritis of the shoulder was made. Despite antibiotic therapy and surgical drainage, the proximal epiphysis of his humerus remains abnormal; however, he has no apparent functional deficit of his right arm at four-year follow-up.
      PubDate: Mon, 12 Nov 2018 03:06:09 +000
  • Craniofacial and Dental Manifestations of Melnick–Needles Syndrome:
           Literature Review and Orthodontic Management

    • Abstract: The aim of this article was to present a characteristic clinical image of Melnick–Needles syndrome using an example of an 11.5-year-old female patient treated at the Facial Congenital Disorders Outpatient Clinic as well as to present the actual literature review of the surgical treatment. The patient was diagnosed with several characteristics typical for Melnick–Needles syndrome: single-sided hearing loss, malocclusion, and facial dysmorphism, among others. Due to malocclusion and facial dysmorphism, the patient with Melnick–Needles syndrome requires orthodontic treatment with surgical intervention. Mandibular distraction with fixed appliance treatment is a recommended treatment protocol.
      PubDate: Sun, 11 Nov 2018 00:00:00 +000
  • Arterial Stiffness in a Toddler with Neurofibromatosis Type 1 and
           Refractory Hypertension

    • Abstract: Arterial hypertension is a common finding in patients with neurofibromatosis (NF) type 1. Renovascular hypertension due to renal artery stenosis or midaortic syndrome could be the underlying cause. We report the case of a 4-year-old girl with NF type 1 and midaortic syndrome whose changes in blood pressure and pulse wave velocity suggested the evolution of vasculopathy, diagnosis of renovascular hypertension, and provided insights of response to treatment. Hypertension persisted after percutaneous transluminal angioplasty in the abdominal aorta, requiring escalation of antihypertensive treatment, while arterial stiffness demonstrated a mild decrease. Regular assessment of blood pressure using ambulatory blood pressure monitoring and noninvasive assessment of arterial stiffness may enhance the medical care of patients with NF type 1.
      PubDate: Wed, 31 Oct 2018 00:00:00 +000
  • Acanthomatous Ameloblastoma of Mandible in a Paediatric Patient

    • Abstract: Ameloblastoma is a slow-growing, benign odontogenic tumor derived from odontogenic epithelial components with a mature fibrous stroma. It is the second most common odontogenic neoplasm following odontome. Acanthomatous ameloblastoma histologically presents with squamous epithelial metaplastic transformation of odontogenic tissue. The present case report of a 12-year-old male exclusively elaborates the issues concerned with the aggressive nature of acanthomatous ameloblastoma (AA) which is a distinctive variant of ameloblastoma.
      PubDate: Sun, 21 Oct 2018 06:15:33 +000
  • In Utero Diagnoses of Strikingly Similar Presentations of Complete
           Atrioventricular Septal Defects in a Pair of Dizygotic Twins Concordant
           for Trisomy 21

    • Abstract: Trisomy 21, or Down syndrome (DS), is a genetic disorder affecting approximately 1 in 500–750 live births. The prevalence of DS has increased over the past two decades, correlating with a rise in the proportion of pregnancies complicated by advanced maternal age. There is also a correlation between advanced maternal age and dizygotic twinning rates. There is an increased risk of at least one twin being affected in dizygotic pregnancies compared to singletons. However, despite this greater relative risk, reports of concordance of DS in both dizygotic twins are very rare. Congenital heart disease (CHD) occurs in roughly 40% of individuals with DS, but there can be considerable phenotypic variation. The most common, atrioventricular septal defect accounts for only 40% of CHD seen in DS. There is also a higher incidence of CHD in twins, but also with a low incidence of concordance. There have been only five reported cases of concordant DS in dizygotic twins with confirmed chromosomal analyses; none of which describe concordant congenital heart disease. Here, we describe an unusual case of dizygotic twins of differing genders concordant for both Down syndrome and congenital heart disease of a strikingly similar presentation.
      PubDate: Wed, 17 Oct 2018 10:16:12 +000
  • Hirschsprung’s Associated Enterocolitis (HAEC) Personalized Treatment

    • Abstract: Approximately 40% of children with Hirschsprung’s disease (HD) suffer from Hirschsprung’s associated enterocolitis (HAEC) despite correct surgery. Disturbances of the intestinal microbiome may play a role. Treatment with probiotics based on individual analyses of the fecal microbiome has not been published for HD patients with recurrent HAEC yet. A boy with trisomy 21 received transanal pull-through at the age of 6 months for rectosigmoid HD. With four years, he suffered from recurrent episodes of HAEC. The fecal microbiome was measured during three healthy and three HAEC episodes by next-generation sequencing. The patient was started on daily probiotics for 3 months; the fecal microbiome was measured weekly. The fecal microbiome differed significantly between healthy and HAEC episodes. HAEC episodes were associated with significant decreases of Actinobacteria and significant increases of Bacteroidetes and Proteobacteria. Probiotic treatment led to a significant increase of alpha diversity and a significant increase of Bifidobacterium and Streptococcus as well as decreases of Rikenellaceae, Pseudobutyrivibrio, Blautia, and Lachnospiraceae. A longitudinal observation of the microbiome has never been performed following correction of Hirschsprung’s disease. Probiotic treatment significantly changed the fecal microbiome; the alterations were not limited to strains contained in the administered probiotics.
      PubDate: Sun, 14 Oct 2018 00:00:00 +000
  • Use of Noninvasive Ventilation with Volume-Assured Pressure Support to
           Avoid Tracheostomy in Severe Obstructive Sleep Apnea

    • Abstract: Obstructive sleep apnea (OSA) is a common disorder in children but can occasionally present with life-threatening hypoxemia. Obesity is a significant risk factor for poor outcomes of OSA treatment. Continuous positive airway pressure (CPAP) is indicated in children who are not candidates for or have an unsatisfactory response to adenotonsillectomy. Children acutely at risk for significant morbidity with other therapies are candidates for a tracheostomy. An eight-year-old patient with morbid obesity and severe OSA refractory to CPAP therapy was treated successfully with a novel noninvasive ventilation (NIV) mode with volume-assured pressure support (VAPS) and avoided tracheostomy.
      PubDate: Tue, 09 Oct 2018 07:17:16 +000
  • Successful Management of Blue Rubber Bleb Nevus Syndrome (BRBNS) with

    • Abstract: Blue rubber bleb nevus syndrome (BRBNS) is a rare disease with vascular malformations in several systems of the body, most commonly the skin and gastrointestinal tract. Bleeding from the gastrointestinal (GI) tract is a major complication, which may lead to chronic iron deficiency anemia and the need for frequent blood transfusions due to ongoing gastrointestinal blood loss. In this case report, we describe a now 19-year-old female with BRBNS who required six blood transfusions per year and after starting sirolimus is symptom- and transfusion-free.
      PubDate: Mon, 08 Oct 2018 06:13:08 +000
  • Torticollis as Presentation for Atypical Kawasaki Disease Complicated by
           Giant Coronary Artery Aneurysms

    • Abstract: Kawasaki disease (KD) is an acute systemic vasculitis of childhood. The diagnosis can be made in a patient who presents with a prolonged high fever and meeting at least four of five criteria including polymorphous rash, mucosal changes, extremity changes (including swelling and/or palmar and plantar erythema), bilateral nonsuppurative conjunctivitis, and unilateral cervical lymphadenopathy. Atypical KD refers to patients who have not met the full criteria and in whom atypical features may be present. We discuss a case of a 6-year-old male who presented to the Emergency Department with torticollis. A series of investigations for elevated inflammatory markers revealed dilated coronary artery aneurysms on echocardiogram, and thus he was diagnosed with atypical KD. His only other criteria were bilateral nonsuppurative conjunctivitis and a prior brief febrile illness. He was treated with high-dose intravenous immune globulin (IVIG) and low-dose aspirin. Low-molecular-weight heparin and atenolol were added due to the presence of giant aneurysms.
      PubDate: Mon, 08 Oct 2018 00:00:00 +000
  • Lateral Proboscis (Elephant Tusk) with Orofacial Clefts: A Report of a
           Rare Case

    • Abstract: Lateral proboscis is a rare congenital anomaly. Lateral proboscis is a rare craniofacial malformation characterized by a rudimentary tubular, nose-like structure occurring in association with a wide spectrum of other anomalies. We presented a seven-month-old girl’s lateral proboscis, cleft lip, and palate. Proboscis was excised by an elliptical incision, and the cleft was repaired at the same surgery.
      PubDate: Thu, 27 Sep 2018 09:19:16 +000
  • Congenital Granular Cell Tumor: Case Report and Review

    • Abstract: Congenital granular cell tumors are infrequently occurring masses occurring on a neonate’s gingiva/alveolus. These lesions are benign with no noted malignant transformation, and treatment of excision is based on its effect on the neonate’s respiratory ability and/or nutritional intake. The purpose of this review is to discuss a case of a congenital granular cell tumor and its treatment and review of the literature including demographics, histopathology, and operative treatment.
      PubDate: Wed, 26 Sep 2018 07:17:07 +000
  • Neuropsychiatric Disorder Associated with Group G Streptococcus Infection

    • Abstract: Immune-mediated central nervous system manifestations of group A β-hemolytic Streptococcus (GABHS) infection include Sydenham’s chorea, pediatric autoimmune neuropsychiatric disorders associated with streptococcal infection (PANDAS)—which includes tic and obsessive compulsive disorders—and a variety of neurobehavioral disorders. We report a case of Streptococcus dysgalactiae subspecies equisimilis (group G Streptococcus) (GGS) infection associated with involuntary movements, complex tics, and emotional lability in an 11-year-old Japanese girl. Serum IgM and IgG antibodies to lysoganglioside were positive, and she responded rapidly to intravenous immunoglobulin treatment. Neuropsychiatric disorder associated with GGS infection was ultimately diagnosed. The present findings suggest that neuropsychiatric disorders can result from GGS infection and that the pathogenic mechanism is similar to that of GABHS infection. Future large-scale studies should examine the relation between GGS infection and onset of neuropsychiatric disorder.
      PubDate: Sun, 23 Sep 2018 10:00:51 +000
  • Sepsis and Pleural Empyema Caused by Streptococcus pyogenes after
           Influenza A Virus Infection

    • Abstract: Streptococcus pyogenes (also referred to as group A streptococci, GAS) causes severe invasive diseases such as bacteremia, necrotizing fasciitis, pneumonia, osteomyelitis, septic arthritis, and toxic shock syndrome in children. However, there are only a few reports on pleural empyema caused by GAS in children. Here, we report the case of a 4-year-old boy who presented with pleural empyema due to GAS after influenza A virus infection. With intravenous antibiotic administration and continuous chest-tube drainage, followed by video-assisted thoracoscopic surgery, his condition improved. During the clinical course, cytokines induced in response to the influenza virus, especially IL-1β and IL-10, were elevated 1 week after influenza A infection, but these decreased as the symptoms improved. Reportedly, the IL-10 production increases during influenza virus-bacteria superinfection. These observations suggest that the immunological mechanisms induced by the influenza virus can play an important role in influencing the susceptibility to secondary bacterial infections, such as GAS, in children.
      PubDate: Sun, 23 Sep 2018 00:00:00 +000
  • A Wilms’ Tumor with Spinal Cord Compression: An Extrarenal

    • Abstract: Spinal cord compression in Wilms’ tumor (WT) is an extremely rare event that can have a very poor prognosis if not taken care of rapidly. Most cases reported in the literature involve widely metastatic patient with bone or paraspinal metastases or occasionally intradural metastasis. Here, we present the case of a 3-year-old girl of WT confirmed by biopsy, with spinal cord compression due to the direct contiguous spread of a tumor through 2 vertebral foramina. Abdominal ultrasonography and magnetic resonance imaging performed for an abdominal mass revealed a large heterogeneous tumor near the upper pole of the left kidney. A nodular infiltration extended through the T11-L1 and L1-L2 neural foramina, forming an intraspinal mass that compressed the spinal cord. Major paresthesia subsequently occurred, requiring urgent treatment with corticosteroids and chemotherapy. The evolution was rapidly satisfying. After six courses of chemotherapy, a left nephrectomy was performed. Macroscopic examination identified a large tumor attached to the kidney without renal infiltration. Microscopical examination concluded to a nephroblastoma with regressive changes, of intermediate risk. Evolution at 6 months is satisfactory, with no neurological deficit. The histological aspect of the tumor and the clinical outcome suggest that she had an extrarenal WT that spread through the vertebral foramina and was secondarily attached to the kidney.
      PubDate: Mon, 03 Sep 2018 00:00:00 +000
  • Pediatric Pancreatic Tuberculosis: A Case Report and Review of the

    • Abstract: Pancreatic tuberculosis (TB) is an uncommon form of extrapulmonary TB and represents a diagnostic challenge for physicians. Pancreatic TB presents with nonspecific signs and symptoms and may mimic malignancy. However, pancreatic TB rarely occurs in children. Here, we present a case of a 5-year-old girl with pancreatic TB and markedly elevated serum cancer antigen- (CA-) 125 levels, thus raising the suspicion of malignancy, but positivity for Mycobacterium tuberculosis DNA was noted. The patient recovered after being administered standard antitubercular therapy for one year. This case suggests that clinicians should have a heightened suspicion of pancreatic TB when faced with pancreatic lesions despite the fact that increased CA-125 may indicate malignancy. Laparoscopy combined with peritoneal biopsy and polymerase chain reaction (PCR) may provide a new method to confirm the diagnosis.
      PubDate: Thu, 30 Aug 2018 00:00:00 +000
  • Type IV Laryngotracheoesophageal Cleft Associated with Type III Esophageal
           Atresia in 1p36 Deletions Containing the RERE Gene: Is There a Causal Role
           for the Genetic Alteration'

    • Abstract: The causes of embryological developmental anomalies leading to laryngotracheoesophageal clefts (LTECs) are not known, but are proposed to be multifactorial, including genetic and environmental factors. Haploinsufficiency of the RERE gene might contribute to different phenotypes seen in individuals with 1p36 deletions. We describe a neonate of an obese mother, diagnosed with type IV LTEC and type III esophageal atresia (EA), in which a 1p36 deletion including the RERE gene was detected. On the second day of life, a right thoracotomy and extrapleural esophagus atresia repair were attempted. One week later, a right cervical approach was performed to separate the cervical esophagus from the trachea. Three months later, a thoracic termino-terminal anastomosis of the esophagus was performed. An anterior fundoplication was required at 8 months of age due to severe gastroesophageal reflux and failure to thrive. A causal role of 1p36 deletions including the RERE gene in the malformation is proposed. Moreover, additional parental factors must be considered. Future studies are mandatory to elucidate genomic and epigenomic susceptibility factors that underlie these congenital malformations. A multiteam approach is a crucial factor in the successful management of affected patients.
      PubDate: Wed, 29 Aug 2018 06:40:18 +000
  • Implication of Topical Steroids in the Onset of Osteoporosis

    • Abstract: The systemic bioavailability of steroids has long been implicated as a cause for osteoporosis (OP); however, much less is known about the effect of topical steroids on bone homeostasis. This is a case of an 11-year-old male who is a known case of generalised pustular psoriasis for 8-year duration with frequent exacerbations controlled with topical betamethasone dipropionate. He presented with generalised progressive bone pain and positive history of bone fracture. The diagnosis of OP was established on the results of DEXA, which were −2.7 SD and −2.4 SD for the lumbar spine and whole body, respectively. Although the cutoff value is the same (
      PubDate: Wed, 29 Aug 2018 00:00:00 +000
  • Traumatic Epiglottitis following a Blind Insertion of the Hand during

    • Abstract: Traditionally, it has been recommended that first-responders should place chopsticks or their hand in a child’s mouth to prevent the child from biting their tongue during convulsion. The practice persists locally in parts of Japan and can cause adverse events. We report a traumatic epiglottitis following the thrusting of a guardians’ hand into a 13-month-old girl’s mouth to prevent her from biting her tongue.
      PubDate: Tue, 28 Aug 2018 00:00:00 +000
  • Tocilizumab for the Treatment of Mevalonate Kinase Deficiency

    • Abstract: Mevalonate kinase deficiency (MKD) is a severe autoinflammatory disease caused by recessive mutations in MVK resulting in reduced function of the enzyme mevalonate kinase, involved in the cholesterol/isoprenoid pathway. MKD presents with periodic episodes of severe systemic inflammation, poor quality of life, and life-threatening sequelae if inadequately treated. We report the case of a 12-year-old girl with MKD and severe autoinflammation that was resistant to IL-1 and TNF-α blockade. In view of this, she commenced intravenous tocilizumab (8 mg/kg every 2 weeks), a humanised monoclonal antibody targeting the IL-6 receptor (IL-6R) that binds to membrane and soluble IL-6R, inhibiting IL-6-mediated signaling. She reported immediate cessation of fever and marked improvement in her energy levels following the first infusion; after the fifth dose, she was in complete clinical and serological remission, now sustained for 24 months. This is one of the first reported cases of a child with MKD treated successfully with tocilizumab and adds to the very limited experience of this treatment for MKD. IL-6 blockade could therefore be an important addition to the armamentarium for the treatment of this rare monogenic autoinflammatory disease.
      PubDate: Sun, 26 Aug 2018 00:00:00 +000
  • A 27-Month-Old Boy with Polyuria and Polydipsia

    • Abstract: Psychogenic polydipsia is a well-described phenomenon in those with a diagnosed psychiatric disorder such as schizophrenia and anxiety disorders. Primary polydipsia is differentiated from psychogenic polydipsia by the lack of a clear psychotic disturbance. We present a case of a 27-month-old boy who presented with polyuria and polydipsia. Laboratory studies, imaging, and an observed water deprivation test were consistent with primary polydipsia. Polydipsia resolved after family limited his fluid intake and began replacing water drinking with other transition objects and behaviors for self-soothing. This case highlights the importance of water deprivation testing to differentiate between causes of polyuria, thereby avoiding misdiagnosis and iatrogenic hyponatremia. Secondly, primary polydipsia can result during the normal stages of child development without overt psychiatric disturbances.
      PubDate: Thu, 23 Aug 2018 00:00:00 +000
  • Asymmetric Omphalopagus in a Triplet after In Vitro Fertilization: A Rare
           Case of Conjoined Twinning

    • Abstract: Introduction. Asymmetric omphalopagus is a rare situation of conjoined twinning, in which a grossly defective twin is attached to the thorax and upper abdomen of the main twin. We describe a case of an asymmetric omphalopagus accompanied by a normal triplet after assisted reproductive technology (ART) and tried to further characterize the all aspects of the conjoined twins. Case Presentation: Perioperative diagnostic imaging was carried out followed by an autopsy to evaluate all aspects of the parasite accompanied by histological, immunohistochemical, and molecular biological evaluation. The parasite had well-developed lower extremities as well as upper extremities with a cleft hand syndrome. The sex was nondeterminable, but DNA fingerprinting revealed that both parasite and autosite are monozygotic, so are females. There was no sign of any axial skeleton or central nervous system. We found a rudimentary rectum with a nonpervious anus, a kidney, ureter, urinary bladder, and a blind-ending urethra. The blood supply of the parasite was connected to the vessel system of the autosite. Conclusions. To our knowledge, only two cases of parasitic omphalopagus after ART have been described to date. Altogether, 52 cases have been reported, and in most of them, the parasites were successfully separated.
      PubDate: Thu, 23 Aug 2018 00:00:00 +000
  • Unsuspected Cause of Respiratory Distress: Unrecognized Esophageal Foreign

    • Abstract: Summary. Foreign bodies in esophagus are avoidable accidents that occur most often in children younger than 3 years. The most common presenting symptoms are dysphagia, drooling, and vomiting. Revelation by respiratory distress is a rare and unusual condition. Objective. We describe and discuss the case of an esophageal foreign body, in which the patient presented with respiratory distress. Case report. A two-year-old child was admitted to the emergency department for acute respiratory distress. He had no history of choking episodes or dysphagia. Nevertheless, he was brought by his parents several times for a persistent cough and wheezing that was treated as asthma for a month. Pulmonary examination had revealed polypnea, suprasternal recession, scattered snoring, and diffuse wheeze. As part of his assessment, a chest X-ray was demanded. It had shown, as unexpected, a nonmetallic foreign body in the upper thoracic esophagus. A clothing button was removed by hypopharyngoscopy under sedation without any incident. Subsequent follow-up had not shown any complications related to this episode. Conclusion. Large esophageal foreign bodies can impinge on the trachea causing upper respiratory tract signs. We alert clinicians on variation in the presentation of foreign body ingestion, and we emphasize the importance of an early diagnosis and management.
      PubDate: Sun, 19 Aug 2018 00:00:00 +000
  • Scapular Bronchogenic Cyst in a Girl Presenting as Recurrent Cellulitis: A
           Case Report and Review of the Literature

    • Abstract: Bronchogenic cysts are rare, congenital cysts originating from respiratory epithelium and typically found within the chest. Cutaneous bronchogenic cysts are exceedingly uncommon, with only 19 reported cases in the scapular region and almost exclusively occurring in male patients. Herein, we present the case of a female patient with recurrent cellulitis secondary to a bronchogenic cyst, which was diagnosed after surgical excision. We also provide a review of the literature to consolidate the current understanding of cutaneous scapular bronchogenic cysts. To our knowledge, this is the first such case reported from Canada.
      PubDate: Wed, 15 Aug 2018 10:57:28 +000
  • Clear Cell Papulosis: A Rare Pediatric Dermatosis

    • Abstract: The diagnosis and management of pediatric hypopigmented lesions can be challenging given their wide range of differentials. In this case report, we present a case of a 3-year-old Chinese boy who was initially treated for tinea versicolor but subsequently diagnosed to have clear cell papulosis. The features, diagnosis, and management of clear cell papulosis are discussed in this article to raise awareness of this condition amongst pediatricians.
      PubDate: Sun, 12 Aug 2018 00:00:00 +000
  • Congenital Rhabdomyosarcoma Presenting as a Neck Mass at Birth

    • Abstract: Rhabdomyosarcoma is a malignant tumor of the soft tissues which preferentially affects the pediatric population. Neonatal rhabdomyosarcoma is rare, and much of the published literature concerning this entity consists of isolated case reports and small case series. Recent work involving the classification of rhabdomyosarcoma has helped to delineate prognostic information based on gene rearrangements. Here, we present a case of congenital rhabdomyosarcoma seen in utero which manifested as a neck mass at birth and was found to harbor a favorable gene fusion.
      PubDate: Mon, 30 Jul 2018 06:46:45 +000
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