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Publisher: Hindawi   (Total: 298 journals)

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Showing 1 - 200 of 298 Journals sorted alphabetically
Abstract and Applied Analysis     Open Access   (Followers: 3, SJR: 0.512, h-index: 32)
Active and Passive Electronic Components     Open Access   (Followers: 7, SJR: 0.157, h-index: 15)
Advances in Acoustics and Vibration     Open Access   (Followers: 27, SJR: 0.259, h-index: 6)
Advances in Agriculture     Open Access   (Followers: 7)
Advances in Artificial Intelligence     Open Access   (Followers: 16)
Advances in Astronomy     Open Access   (Followers: 38, SJR: 0.351, h-index: 17)
Advances in Bioinformatics     Open Access   (Followers: 18, SJR: 0.421, h-index: 8)
Advances in Chemistry     Open Access   (Followers: 14)
Advances in Civil Engineering     Open Access   (Followers: 33, SJR: 0.338, h-index: 8)
Advances in Condensed Matter Physics     Open Access   (Followers: 8, SJR: 0.248, h-index: 10)
Advances in Decision Sciences     Open Access   (Followers: 4, SJR: 0.231, h-index: 6)
Advances in Electrical Engineering     Open Access   (Followers: 20)
Advances in Fuzzy Systems     Open Access   (Followers: 5, SJR: 0.258, h-index: 7)
Advances in Hematology     Open Access   (Followers: 9, SJR: 0.892, h-index: 18)
Advances in High Energy Physics     Open Access   (Followers: 19, SJR: 0.892, h-index: 19)
Advances in Human-Computer Interaction     Open Access   (Followers: 20, SJR: 0.439, h-index: 9)
Advances in Materials Science and Engineering     Open Access   (Followers: 32, SJR: 0.263, h-index: 11)
Advances in Mathematical Physics     Open Access   (Followers: 5, SJR: 0.332, h-index: 10)
Advances in Medicine     Open Access   (Followers: 2)
Advances in Meteorology     Open Access   (Followers: 18, SJR: 0.498, h-index: 10)
Advances in Multimedia     Open Access   (Followers: 2, SJR: 0.191, h-index: 10)
Advances in Nonlinear Optics     Open Access   (Followers: 5)
Advances in Numerical Analysis     Open Access   (Followers: 4)
Advances in Operations Research     Open Access   (Followers: 11, SJR: 0.343, h-index: 7)
Advances in Optical Technologies     Open Access   (Followers: 3, SJR: 0.283, h-index: 16)
Advances in OptoElectronics     Open Access   (Followers: 5, SJR: 0.973, h-index: 16)
Advances in Orthopedic Surgery     Open Access   (Followers: 9)
Advances in Orthopedics     Open Access   (Followers: 9)
Advances in Pharmacological Sciences     Open Access   (Followers: 6, SJR: 0.695, h-index: 13)
Advances in Physical Chemistry     Open Access   (Followers: 11, SJR: 0.297, h-index: 7)
Advances in Power Electronics     Open Access   (Followers: 25, SJR: 0.26, h-index: 6)
Advances in Preventive Medicine     Open Access   (Followers: 6)
Advances in Public Health     Open Access   (Followers: 20)
Advances in Tribology     Open Access   (Followers: 10, SJR: 0.267, h-index: 6)
Advances in Urology     Open Access   (Followers: 10, SJR: 0.629, h-index: 16)
Advances in Virology     Open Access   (Followers: 7, SJR: 1.04, h-index: 12)
AIDS Research and Treatment     Open Access   (Followers: 3, SJR: 1.125, h-index: 14)
Analytical Cellular Pathology     Open Access   (Followers: 2, SJR: 0.334, h-index: 12)
Anatomy Research Intl.     Open Access   (Followers: 2)
Anemia     Open Access   (Followers: 4, SJR: 0.991, h-index: 11)
Anesthesiology Research and Practice     Open Access   (Followers: 12, SJR: 0.513, h-index: 12)
Applied and Environmental Soil Science     Open Access   (Followers: 17, SJR: 0.53, h-index: 9)
Applied Bionics and Biomechanics     Open Access   (Followers: 8, SJR: 0.23, h-index: 13)
Applied Computational Intelligence and Soft Computing     Open Access   (Followers: 12)
Archaea     Open Access   (Followers: 3, SJR: 1.248, h-index: 27)
Arthritis     Open Access   (Followers: 4)
Autism Research and Treatment     Open Access   (Followers: 29)
Autoimmune Diseases     Open Access   (Followers: 3, SJR: 0.909, h-index: 17)
Behavioural Neurology     Open Access   (Followers: 7, SJR: 0.696, h-index: 34)
Biochemistry Research Intl.     Open Access   (Followers: 6, SJR: 1.085, h-index: 17)
Bioinorganic Chemistry and Applications     Open Access   (Followers: 9, SJR: 0.286, h-index: 19)
BioMed Research Intl.     Open Access   (Followers: 6, SJR: 0.725, h-index: 59)
Biotechnology Research Intl.     Open Access   (Followers: 2)
Bone Marrow Research     Open Access   (Followers: 2)
Canadian J. of Gastroenterology & Hepatology     Open Access   (Followers: 4, SJR: 0.856, h-index: 53)
Canadian J. of Infectious Diseases and Medical Microbiology     Open Access   (Followers: 4, SJR: 0.409, h-index: 25)
Canadian Respiratory J.     Open Access   (Followers: 1, SJR: 0.503, h-index: 42)
Cardiology Research and Practice     Open Access   (Followers: 8, SJR: 0.941, h-index: 17)
Cardiovascular Psychiatry and Neurology     Open Access   (Followers: 4, SJR: 1.091, h-index: 14)
Case Reports in Anesthesiology     Open Access   (Followers: 10)
Case Reports in Cardiology     Open Access   (Followers: 2)
Case Reports in Critical Care     Open Access   (Followers: 9)
Case Reports in Dentistry     Open Access   (Followers: 3)
Case Reports in Dermatological Medicine     Open Access   (Followers: 2)
Case Reports in Emergency Medicine     Open Access   (Followers: 13)
Case Reports in Endocrinology     Open Access   (SJR: 0.326, h-index: 1)
Case Reports in Gastrointestinal Medicine     Open Access   (Followers: 3)
Case Reports in Genetics     Open Access   (Followers: 1)
Case Reports in Hematology     Open Access   (Followers: 2)
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: 3)
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: 11)
Case Reports in Oncological Medicine     Open Access   (Followers: 2)
Case Reports in Ophthalmological Medicine     Open Access   (Followers: 3)
Case Reports in Orthopedics     Open Access   (Followers: 7)
Case Reports in Otolaryngology     Open Access   (Followers: 4)
Case Reports in Pathology     Open Access   (Followers: 5)
Case Reports in Pediatrics     Open Access   (Followers: 5)
Case Reports in Psychiatry     Open Access   (Followers: 11)
Case Reports in Pulmonology     Open Access   (Followers: 3)
Case Reports in Radiology     Open Access   (Followers: 9)
Case Reports in Rheumatology     Open Access   (Followers: 4)
Case Reports in Surgery     Open Access   (Followers: 8)
Case Reports in Transplantation     Open Access  
Case Reports in Urology     Open Access   (Followers: 8)
Case Reports in Vascular Medicine     Open Access  
Case Reports in Veterinary Medicine     Open Access   (Followers: 5)
Chemotherapy Research and Practice     Open Access   (Followers: 1)
Child Development Research     Open Access   (Followers: 15)
Chinese J. of Engineering     Open Access   (Followers: 2)
Chinese J. of Mathematics     Open Access  
Cholesterol     Open Access   (Followers: 1, SJR: 0.906, h-index: 12)
Complexity     Hybrid Journal   (Followers: 6, SJR: 0.526, h-index: 27)
Computational and Mathematical Methods in Medicine     Open Access   (Followers: 2, SJR: 0.415, h-index: 22)
Computational Intelligence and Neuroscience     Open Access   (Followers: 10, SJR: 0.232, h-index: 30)
Contrast Media & Molecular Imaging     Open Access   (Followers: 3, SJR: 0.932, h-index: 34)
Critical Care Research and Practice     Open Access   (Followers: 10, SJR: 0.916, h-index: 14)
Current Gerontology and Geriatrics Research     Open Access   (Followers: 9, SJR: 0.8, h-index: 12)
Depression Research and Treatment     Open Access   (Followers: 13, SJR: 0.77, h-index: 11)
Dermatology Research and Practice     Open Access   (Followers: 3, SJR: 0.576, h-index: 15)
Diagnostic and Therapeutic Endoscopy     Open Access   (SJR: 0.651, h-index: 18)
Discrete Dynamics in Nature and Society     Open Access   (Followers: 5, SJR: 0.323, h-index: 24)
Disease Markers     Open Access   (Followers: 1, SJR: 0.774, h-index: 49)
Education Research Intl.     Open Access   (Followers: 18)
Emergency Medicine Intl.     Open Access   (Followers: 7)
Enzyme Research     Open Access   (Followers: 4, SJR: 0.457, h-index: 18)
Epilepsy Research and Treatment     Open Access   (Followers: 3)
Evidence-based Complementary and Alternative Medicine     Open Access   (Followers: 18, SJR: 0.615, h-index: 50)
Experimental Diabetes Research     Open Access   (Followers: 11, SJR: 1.591, h-index: 30)
Gastroenterology Research and Practice     Open Access   (Followers: 3, SJR: 0.664, h-index: 21)
Genetics Research Intl.     Open Access   (Followers: 1)
Geofluids     Open Access   (Followers: 4, SJR: 0.693, h-index: 38)
Hepatitis Research and Treatment     Open Access   (Followers: 6)
HPB Surgery     Open Access   (Followers: 5, SJR: 0.798, h-index: 22)
Indian J. of Materials Science     Open Access  
Infectious Diseases in Obstetrics and Gynecology     Open Access   (Followers: 7, SJR: 0.976, h-index: 34)
Influenza Research and Treatment     Open Access   (Followers: 2)
Interdisciplinary Perspectives on Infectious Diseases     Open Access   (Followers: 2, SJR: 0.763, h-index: 15)
Intl. J. of Aerospace Engineering     Open Access   (Followers: 66, SJR: 0.241, h-index: 6)
Intl. J. of Agronomy     Open Access   (Followers: 8, SJR: 0.223, h-index: 2)
Intl. J. of Alzheimer's Disease     Open Access   (Followers: 11, SJR: 1.193, h-index: 25)
Intl. J. of Analysis     Open Access  
Intl. J. of Analytical Chemistry     Open Access   (Followers: 22, SJR: 0.157, h-index: 2)
Intl. J. of Antennas and Propagation     Open Access   (Followers: 11, SJR: 0.385, h-index: 15)
Intl. J. of Bacteriology     Open Access  
Intl. J. of Biodiversity     Open Access   (Followers: 4)
Intl. J. of Biomaterials     Open Access   (Followers: 5, SJR: 0.485, h-index: 10)
Intl. J. of Biomedical Imaging     Open Access   (Followers: 5, SJR: 0.581, h-index: 23)
Intl. J. of Breast Cancer     Open Access   (Followers: 12)
Intl. J. of Cell Biology     Open Access   (Followers: 4, SJR: 2.658, h-index: 25)
Intl. J. of Chemical Engineering     Open Access   (Followers: 7, SJR: 0.361, h-index: 10)
Intl. J. of Chronic Diseases     Open Access   (Followers: 1)
Intl. J. of Computer Games Technology     Open Access   (Followers: 11, SJR: 0.213, h-index: 12)
Intl. J. of Corrosion     Open Access   (Followers: 11, SJR: 0.19, h-index: 7)
Intl. J. of Dentistry     Open Access   (Followers: 6, SJR: 0.558, h-index: 11)
Intl. J. of Differential Equations     Open Access   (Followers: 6, SJR: 0.363, h-index: 11)
Intl. J. of Digital Multimedia Broadcasting     Open Access   (Followers: 5, SJR: 0.144, h-index: 10)
Intl. J. of Electrochemistry     Open Access   (Followers: 8)
Intl. J. of Endocrinology     Open Access   (Followers: 3, SJR: 0.961, h-index: 24)
Intl. J. of Engineering Mathematics     Open Access   (Followers: 3)
Intl. J. of Evolutionary Biology     Open Access   (Followers: 9)
Intl. J. of Family Medicine     Open Access   (Followers: 2)
Intl. J. of Food Science     Open Access   (Followers: 3)
Intl. J. of Forestry Research     Open Access   (Followers: 4)
Intl. J. of Genomics     Open Access   (Followers: 2, SJR: 0.721, h-index: 7)
Intl. J. of Hepatology     Open Access   (Followers: 3)
Intl. J. of Hypertension     Open Access   (Followers: 6, SJR: 0.823, h-index: 20)
Intl. J. of Inflammation     Open Access   (SJR: 0.876, h-index: 14)
Intl. J. of Mathematics and Mathematical Sciences     Open Access   (Followers: 3, SJR: 0.346, h-index: 27)
Intl. J. of Medicinal Chemistry     Open Access   (Followers: 6)
Intl. J. of Microbiology     Open Access   (Followers: 5, SJR: 1.006, h-index: 18)
Intl. J. of Microwave Science and Technology     Open Access   (Followers: 3, SJR: 0.167, h-index: 5)
Intl. J. of Molecular Imaging     Open Access  
Intl. J. of Navigation and Observation     Open Access   (Followers: 20, SJR: 0.411, h-index: 7)
Intl. J. of Nephrology     Open Access   (Followers: 2, SJR: 0.926, h-index: 14)
Intl. J. of Optics     Open Access   (Followers: 7, SJR: 0.262, h-index: 7)
Intl. J. of Otolaryngology     Open Access   (Followers: 2)
Intl. J. of Pediatrics     Open Access   (Followers: 5)
Intl. J. of Peptides     Open Access   (Followers: 4, SJR: 0.73, h-index: 16)
Intl. J. of Photoenergy     Open Access   (Followers: 2, SJR: 0.348, h-index: 28)
Intl. J. of Plant Genomics     Open Access   (Followers: 4, SJR: 1.578, h-index: 20)
Intl. J. of Polymer Science     Open Access   (Followers: 23, SJR: 0.265, h-index: 11)
Intl. J. of Population Research     Open Access   (Followers: 2)
Intl. J. of Proteomics     Open Access   (Followers: 1)
Intl. J. of Reconfigurable Computing     Open Access   (SJR: 0.182, h-index: 8)
Intl. J. of Reproductive Medicine     Open Access   (Followers: 5)
Intl. J. of Rheumatology     Open Access   (Followers: 4, SJR: 1.015, h-index: 18)
Intl. J. of Rotating Machinery     Open Access   (Followers: 2, SJR: 0.402, h-index: 19)
Intl. J. of Spectroscopy     Open Access   (Followers: 8)
Intl. J. of Stochastic Analysis     Open Access   (Followers: 4, SJR: 0.234, h-index: 19)
Intl. J. of Surgical Oncology     Open Access   (Followers: 1, SJR: 0.753, h-index: 11)
Intl. J. of Telemedicine and Applications     Open Access   (Followers: 4, SJR: 0.757, h-index: 14)
Intl. J. of Vascular Medicine     Open Access   (SJR: 0.865, h-index: 16)
Intl. J. of Vehicular Technology     Open Access   (Followers: 4, SJR: 0.169, h-index: 6)
Intl. J. of Zoology     Open Access   (Followers: 1, SJR: 0.389, h-index: 8)
Intl. Scholarly Research Notices     Open Access   (Followers: 199)
ISRN Astronomy and Astrophysics     Open Access   (Followers: 7)
J. of Addiction     Open Access   (Followers: 10)
J. of Advanced Transportation     Hybrid Journal   (Followers: 11, SJR: 0.911, h-index: 24)
J. of Aging Research     Open Access   (Followers: 7, SJR: 1.259, h-index: 23)
J. of Allergy     Open Access   (Followers: 4)
J. of Amino Acids     Open Access   (Followers: 2)
J. of Analytical Methods in Chemistry     Open Access   (Followers: 1, SJR: 0.296, h-index: 13)
J. of Anthropology     Open Access   (Followers: 24)
J. of Applied Chemistry     Open Access   (Followers: 4)
J. of Applied Mathematics     Open Access   (Followers: 2, SJR: 0.341, h-index: 22)
J. of Biomarkers     Open Access  
J. of Biomedical Education     Open Access   (Followers: 2)
J. of Biophysics     Open Access   (Followers: 5, SJR: 0.22, h-index: 5)
J. of Blood Transfusion     Open Access   (Followers: 1)
J. of Botany     Open Access   (Followers: 3, SJR: 0.101, h-index: 2)
J. of Cancer Epidemiology     Open Access   (Followers: 7, SJR: 1.427, h-index: 12)
J. of Chemistry     Open Access   (Followers: 5, SJR: 0.225, h-index: 11)
J. of Combustion     Open Access   (Followers: 17, SJR: 0.27, h-index: 8)
J. of Complex Analysis     Open Access   (Followers: 3)
J. of Computational Engineering     Open Access   (Followers: 1)

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Journal Cover Case Reports in Pediatrics
  [5 followers]  Follow
    
  This is an Open Access Journal Open Access journal
   ISSN (Print) 2090-6803 - ISSN (Online) 2090-6811
   Published by Hindawi Homepage  [298 journals]
  • Appendicitis Caused by Primary Varicella Zoster Virus Infection in a Child
           with DiGeorge Syndrome

    • Abstract: Introduction. Chickenpox is caused by varicella zoster virus (VZV). Although predominantly a mild disease, it can cause considerable morbidity and in rare occasions even mortality in healthy children as well as increased morbidity and mortality in immunocompromised patients. The aetiology of appendicitis is largely unknown but is thought to be multifactorial. Appendicitis is a suspected, but not well documented, complication from varicella zoster virus infection. Case Presentation. A five-year-old girl diagnosed with DiGeorge syndrome and a prolonged primary VZV infection was admitted due to abdominal pain, increasing diarrhoea, vomiting, and poor general condition. She developed perforated appendicitis and an intraperitoneal abscess. VZV DNA was detected by PCR in two samples from the appendix and pus from the abdomen, respectively. The child was treated with acyclovir and antibiotics and the abscess was drained twice. She was discharged two weeks after referral with no sequela. Conclusion. Abdominal pain in children with viral infections can be a challenge, and appendicitis has to be considered as a complication to acute viral diseases, especially if the child is immunocompromised.
      PubDate: Wed, 16 Aug 2017 06:55:27 +000
       
  • Severe Hepatopulmonary Syndrome in a Child with Caroli Syndrome

    • Abstract: Hepatopulmonary Syndrome (HPS) is a potential complication of chronic liver disease and is more commonly seen in the adult population. Caroli Syndrome is a rare inherited disorder characterized by intrahepatic ductal dilation and liver fibrosis that leads to portal hypertension. In children with liver disease, HPS should be considered in the differential diagnosis of prolonged, otherwise unexplained, hypoxemia. The presence of HPS can improve patient priority on the liver transplantation wait list, despite their Pediatric End-Stage Liver Disease (PELD) score. We present a 6-year-old girl with Caroli Syndrome and End-Stage Renal Disease who presented with persistent hypoxemia. The goal of this report is to increase awareness of HPS in children.
      PubDate: Sun, 13 Aug 2017 07:58:22 +000
       
  • Long Standing Esophageal Perforation due to Foreign Body Impaction in
           Children: A Therapeutic Challenge in a Resource Limited Setting

    • Abstract: Late presentation of foreign body impaction in the esophagus, complicated by perforation in children, has rarely been reported in the literature. Esophageal surgery is very difficult and challenging in Cameroon (a resource limited setting). We are reporting herein 2 cases of esophageal perforation in children seen very late (12 days and 40 days) after foreign body impaction, complicated with severe sepsis, who were successfully operated upon with very good results.
      PubDate: Tue, 08 Aug 2017 06:53:52 +000
       
  • Split-Hand Malformation in a 4-Year-Old Child

    • Abstract: Split-hand deformity is one of the milder manifestations of a congenital disorder called split-hand/split-foot malformation. We present a case of a 4-year-old child with split-hand malformation in his left hand since birth. A median cleft was present in the affected hand with absence of the 3rd and 4th digits, giving rise to a characteristic lobster-claw appearance. Functionality of the affected hand was modestly impaired. As none of the close family members of the patient had similar limb malformations, the deformity was postulated to arise most likely from a de novo mutation. The patient was discharged after the parents were provided with genetic counseling.
      PubDate: Thu, 03 Aug 2017 00:00:00 +000
       
  • Late Onset Cobalamin Disorder and Hemolytic Uremic Syndrome: A Rare Cause
           of Nephrotic Syndrome

    • Abstract: Hemolytic uremic syndrome (HUS) is an unrare and severe thrombotic microangiopathy (TMA) caused by several pathogenetic mechanisms among which Shiga toxin-producing Escherichia coli infections and complement dysregulation are the most common. However, very rarely and particularly in neonates and infants, disorders of cobalamin metabolism (CblC) can present with or be complicated by TMA. Herein we describe a case of atypical HUS (aHUS) related to CblC disease which first presented in a previously healthy boy at age of 13.6 years. The clinical picture was initially dominated by nephrotic range proteinuria and severe hypertension followed by renal failure. The specific treatment with high dose of hydroxycobalamin rapidly obtained the remission of TMA and the complete recovery of renal function. We conclude that plasma homocysteine and methionine determinations together with urine organic acid analysis should be included in the diagnostic work-up of any patient with TMA and/or nephrotic syndrome regardless of age.
      PubDate: Tue, 01 Aug 2017 08:36:06 +000
       
  • First Report on Fetal Cerebral Polyglucosan Bodies in
           Mucopolysaccharidosis Type VII

    • Abstract: We report on the detection of discordant inclusions in the brain of a 25-week female fetus with a very rare lysosomal storage disease, namely, Sly disease (mucopolysaccharidosis (MPS) type VII), presenting with nonimmune hydrops fetalis. Besides vacuolated neurons, we found abundant deposition of polyglucosan bodies (PGBs) in the developing brain of this fetus in whom MPS-VII was corroborated by lysosomal beta-glucuronidase-deficiency detected in fetal blood and fetal skin-fibroblasts and by the presence of a heterozygous pathogenic variant in the GUSB gene in the mother. Fetal/neonatal metabolic disorders with PGB-deposition are extremely rare (particularly in relation to CNS involvement) and include almost exclusively subtypes of glycogenosis (types IV and VII). The accumulation of PGBs (particularly in the fetal brain) has so far not been depicted in Sly disease. This is the first report on such “aberrant” association. Besides, the detection of these CNS inclusions at such an early developmental stage is remarkably unique.
      PubDate: Mon, 10 Jul 2017 07:37:08 +000
       
  • New Onset Insomnia in a Pediatric Patient: A Case of Anti-NMDA Receptor
           Encephalitis

    • Abstract: Anti-NMDAR encephalitis is becoming more widely recognized as a cause of encephalopathy in both adults and children. Certain clinical features such as mood lability, movement disorders, speech dysfunction, seizures, and autonomic instability in a pediatric patient should prompt immediate concern and evaluation for autoimmune encephalitis among providers. We present the case of a pediatric patient with anti-NMDAR encephalitis in which the symptom prompting medical evaluation was insomnia. Insomnia has not previously been emphasized in the literature as a presenting feature of this disease in children and has a broad differential. Recognition of the symptoms of anti-NMDAR encephalitis and its variable presentation are key to early diagnosis and prompt initiation of treatment which may help to improve outcomes.
      PubDate: Sun, 09 Jul 2017 06:33:35 +000
       
  • Corrigendum to “Management Challenges in a Child with Chronic
           Hyponatremia: Use of V2 Receptor Antagonist”

    • PubDate: Sun, 02 Jul 2017 09:38:38 +000
       
  • Lower Extremity Abscess Formation in Premature Infants due to Routine
           Infant Vaccinations

    • Abstract: Since the introduction of vaccines, the impact of vaccinations has been immeasurable. Under the current immunization guidelines, infants receive the first of their routine infant vaccinations at 2 months of age. While the benefits of routine infant vaccinations in premature infants have been demonstrated, there is relatively little data on the dosing of these vaccines in premature infants. The medical records of two premature infants who developed intramuscular abscesses after receiving their routine infant vaccinations were reviewed. Both patients developed pain in the area of the injection after receiving their vaccinations. Magnetic resonance imaging findings confirmed the formation of an abscess. No other causes of abscess formation were observed. Both patients required surgical intervention and were treated with a course of antibiotics. To our knowledge, this is the first case report to suggest routine vaccinations as a potential cause of abscess formation in premature infants.
      PubDate: Sun, 18 Jun 2017 00:00:00 +000
       
  • Primary Occipital Ewing’s Sarcoma with Subsequent Spinal Seeding

    • Abstract: Ewing’s sarcoma is a primary bone cancer that mainly affects the long bones. This malignancy is particularly common in pediatric patients. Primary cranial involvement accounts for 1% of cases, with occipital involvement considered extremely rare. In this case study, primary occipital Ewing’s sarcoma with a posterior fossa mass and subsequent relapse resulting in spinal seeding is reported. A 3-year-old patient presented with a 1-year history of left-sided headaches, localized over the occipital bone with progressive torticollis. Computed tomography (CT) imaging showed a mass in the left posterior fossa compressing the brainstem. The patient then underwent surgical excision followed by adjuvant chemoradiation therapy. Two years later, the patient presented with severe lower back pain and urinary incontinence. Whole-spine magnetic resonance imaging (MRI) showed cerebrospinal fluid (CSF) seeding from the L5 to the S4 vertebrae. Primary cranial Ewing’s sarcoma is considered in the differential diagnosis of children with extra-axial posterior fossa mass associated with destructive permeative bone lesions. Although primary cranial Ewing’s sarcoma typically has good prognosis, our patient developed metastasis in the lower spine. Therefore, with CNS Ewing’s sarcoma, screening of the entire neural axis should be taken into consideration for early detection of CSF seeding metastasis in order to decrease the associated morbidity and mortality.
      PubDate: Tue, 13 Jun 2017 00:00:00 +000
       
  • Congenital Infantile Fibrosarcoma Causing Intestinal Perforation in a
           Newborn

    • Abstract: Congenital infantile fibrosarcoma (CIF) is a rare malignant mesenchymal tumor and only 14 cases have been reported with gastrointestinal manifestation. We report about a female newborn delivered per emergency cesarean section at 34 weeks of gestation. Postnatally, she rapidly developed an acute abdomen and sonographic evidence of intestinal perforation requiring laparotomy on the first day of life. A perforated 2 × 3 cm sized spherical tumorous structure of the jejunum was identified. Due to unknown histopathology at this point and unclear resectional margins, she received a temporary ileostomy, which was closed two months later. Histopathology revealed a congenital intestinal fibrosarcoma without the characteristic ETV6-NTRK3 fusion transcript. In conclusion, this rare tumor must be considered as differential diagnosis of intestinal perforations in newborns.
      PubDate: Mon, 12 Jun 2017 07:10:43 +000
       
  • Prenatal Diagnosis of Atrioventricular Block and QT Interval Prolongation
           by Fetal Magnetocardiography in a Fetus with Trisomy 18 and SCN5A R1193Q
           Variant

    • Abstract: We report a case of fetal trisomy 18 with SCN5A R1193Q variant that presented with sinus bradycardia, 2 : 1 atrioventricular block (AVB), and QT interval prolongation. These complex arrhythmias were diagnosed by fetal magnetocardiography combined with ultrasound findings. Advanced AVB and ventricular arrhythmias were confirmed after birth. Genetic testing of the baby revealed a SCN5A R1193Q variant, which we considered could account for the various arrhythmias in this case.
      PubDate: Tue, 30 May 2017 06:23:00 +000
       
  • Williams-Beuren Syndrome and Congenital Lobar Emphysema: Uncommon
           Association with Common Pathology?

    • Abstract: Introduction. Congenital lobar emphysema (CLE) and Williams-Beuren Syndrome are two rare conditions that have only been reported together in a single case study. Case Presentation. We report another case of a male Caucasian newborn with nonspecific initial respiratory distress, with detection of CLE on repeat chest X-ray on Day 25 of life and concurrent ventricular septal defect, supravalvular aortic stenosis, and branch pulmonary stenosis, in whom a 7q11.23 deletion consistent with Williams-Beuren Syndrome was made. Conclusion. A diagnosis of congenital lobar emphysema should prompt further screening for congenital heart disease and genetic deletion, and further research is needed to investigate the role of elastin gene mutation in the development of the neonatal lung.
      PubDate: Wed, 24 May 2017 00:00:00 +000
       
  • A Constellation of Rare Findings in a Case of Goldenhar Syndrome

    • Abstract: An 18-month-old child presented with right macrostomia, bilateral preauricular skin tags, bilateral CTEV, squint in bilateral eyes, thoracic vertebral anomalies, right sided aortic arch, and associated left pulmonary agenesis. The patient did not have any associated respiratory symptoms. Ipsilateral pulmonary agenesis is considered as a rare association with Goldenhar syndrome and a case of contralateral pulmonary aplasia has been described as an even rarer association.
      PubDate: Sun, 21 May 2017 10:10:30 +000
       
  • Physiological Striae Atrophicae of Adolescence with Involvement of the
           Axillae and Proximal Arms

    • Abstract: We report a 16-year-old adolescent male with multiple violaceous, atrophic, vertical linear striae isolated to the axillae and proximal arms of approximately one-year duration. In the past two years, he indulged in heavy weight-lifting. He experienced a growth spurt over the past few years. The patient was otherwise in good health and was not on any medications. Physiological striae atrophicae of adolescence where the striae were restricted to the axillae and proximal arms have very rarely been reported.
      PubDate: Tue, 16 May 2017 00:00:00 +000
       
  • A Patient with MSUD: Acute Management with Sodium Phenylacetate/Sodium
           Benzoate and Sodium Phenylbutyrate

    • Abstract: In treatment of metabolic imbalances caused by maple syrup urine disease (MSUD), peritoneal dialysis, and hemofiltration, pharmacological treatments for elimination of toxic metabolites can be used in addition to basic dietary modifications. Therapy with sodium phenylacetate/benzoate or sodium phenylbutyrate (NaPB) in urea-cycle disorder cases has been associated with a reduction in branched-chain amino acid (BCAA) concentrations when the patients are on adequate dietary protein intake. Moreover, NaPB in treatment of MSUD patients is also associated with reduction of BCAA levels in a limited number of cases. However, there are not enough studies in the literature about application and efficacy of this treatment. Our case report sets an example of an alternative treatment’s efficacy when extracorporeal procedures are not available due to technical difficulties during attack period of the disease.
      PubDate: Mon, 15 May 2017 00:00:00 +000
       
  • Sclerema Neonatorum Treated Successfully with Parenteral Steroids: An
           Experience from a Resource Poor Country

    • Abstract: Sclerema neonatorum is a form of panniculitides characterized by diffuse hardening of subcutaneous tissue with minimal inflammation. It usually affects ill and preterm neonates. Prognosis is usually poor in many cases despite aggressive management. Various treatment modalities (antibiotics, intravenous immunoglobulin, steroids, and exchange transfusion) have been explained in literature. Steroids due to its easy availability and low cost can prove to be lifesaving in such cases, especially in resource poor countries. Here, we report a case of sclerema neonatorum in a one-week preterm baby treated successfully with parenteral steroids and antibiotics.
      PubDate: Thu, 11 May 2017 00:00:00 +000
       
  • Parotitis as an Initial Symptom of Kawasaki Disease

    • Abstract: We report the case of a 13-month-old boy who developed right side parotitis as a first symptom of Kawasaki disease (KD). The data presented herein suggest that physicians should be aware that nonsuppurative parotitis is a possible manifestation of KD.
      PubDate: Thu, 11 May 2017 00:00:00 +000
       
  • Use of Chlorothiazide in the Management of Central Diabetes Insipidus in
           Early Infancy

    • Abstract: Management of central diabetes insipidus in infancy is challenging. The various forms of desmopressin, oral, subcutaneous, and intranasal, have variability in the duration of action. Infants consume most of their calories as liquids which with desmopressin puts them at risk for hyponatremia and seizures. There are few cases reporting chlorothiazide as a temporizing measure for central diabetes insipidus in infancy. A male infant presented on day of life 30 with holoprosencephaly, cleft lip and palate, and poor weight gain to endocrine clinic. Biochemical tests and urine output were consistent with central diabetes insipidus. The patient required approximately 2.5 times the normal fluid intake to keep up with the urine output. Patient was started on low renal solute load formula and oral chlorothiazide. There were normalization of serum sodium, decrease in fluid intake close to 1.3 times the normal, and improved urine output. There were no episodes of hyponatremia/hypernatremia inpatient. The patient had 2 episodes of hypernatremia in the first year of life resolving with few hours of hydration. Oral chlorothiazide is a potential bridging agent for treatment of central DI along with low renal solute load formula in early infancy. It can help achieve adequate control of DI without wide serum sodium fluctuations.
      PubDate: Wed, 03 May 2017 06:59:33 +000
       
  • De Novo PTEN Mutation in a Young Boy with Cutaneous Vasculitis

    • Abstract: Phosphatase and tensin homolog (PTEN) is the protein encoded by the PTEN gene (10q23.3). PTEN mutations are related to a variety of rare diseases referred to collectively as PTEN hamartoma tumor syndromes (PHTS), which include Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus Syndrome, and Proteus-like syndrome. These diseases are associated with an increased risk of malignancy and for this reason an accurate and early diagnosis is essential in order to institute cancer surveillance. PTEN is a regulator of growth and homeostasis in immune system cells, although there are limited data describing immune dysregulation caused by PTEN mutations. We describe a case of PHTS syndrome caused by a de novo mutation in PTEN detected using a targeted next generation sequencing (NGS) gene panel which was instigated for workup of cutaneous vasculitis. We highlight the diagnostic utility of this approach and that mutations in PTEN may be associated with immune-dysregulatory features such as vasculitis in young children.
      PubDate: Mon, 24 Apr 2017 07:46:00 +000
       
  • Sporadic Insulinoma as a Rare Cause of Recurrent Hypoglycemia in Children

    • Abstract: Insulinoma is a rare pancreatic tumor in children and adolescents. As a result of insulin hypersecretion, signs and symptoms are more commonly consequences of the pathophysiologic responses to hypoglycemia. According to rarity of this tumor in children and nonspecificity of clinical presentations, diagnosis of insulinoma in this group of patients is usually delayed. Early diagnosis is very important for preventing neurologic damage. In this case report, we present the case of a 10-year-old boy with signs and symptoms of hypoglycemia and final diagnosis of insulinoma.
      PubDate: Thu, 20 Apr 2017 00:00:00 +000
       
  • Complete Ectopia Cordis: A Case Report and Literature Review

    • Abstract: Ectopia cordis is a congenital heart exposure defined as complete or partial protrusion of heart through ventral defect in the thoracoabdominal wall alone or with other viscera in cases of pentalogy of Cantrell. This condition was first described by Haller et al. in 1706; since then many advances have been made. Diagnosis of ectopia cordis is done prenatally in well-equipped health facility by antenatal ultrasound scan so that early diagnosis and management plan can be initiated. The index case was delivered to uneducated rural family and admitted at 3 days of life and survived for seven days, even though most literatures state that majority died within four days even with surgery. So, in view of this, we presented this case report to deliberately draw the attention of paediatrician/obstetrician to the fact that even though this condition is rare, proactive search and diagnosis should be made and early treatment should be instituted, so that such a child may be salvaged.
      PubDate: Wed, 19 Apr 2017 08:09:46 +000
       
  • Thermal Esophageal Injury following Ingestion of Boiling Mushroom Water

    • Abstract: Thermal esophageal and gastric damage from ingestion of hot liquids is poorly studied in pediatrics. Limited case reports exist in the literature. Many cases presented with chest pain, dysphagia, and odynophagia. Variable histologic findings were reported. No definitive management guidelines exist for such injuries. We provide a report of the acute assessment and management of an obvious thermal esophageal injury and contribute to what is known about this presentation. A 16-year-old male presented with odynophagia, dysphagia, and hematemesis following ingestion of “nearly boiling” mushroom water. Ondansetron, pantoprazole, ketorolac, maintenance intravenous fluids, and a clear liquid diet were started. At sixty hours after ingestion, an esophagogastroduodenoscopy (EGD) revealed blistering and edema of the soft palate and epiglottis, circumferential erythema of the entire esophagus with an exudate likely to be desquamated mucosa, and linear erythema of the body and fundus of the stomach. An EGD one month after ingestion showed no residual effects from the injury. The pantoprazole was weaned and restrictions to his diet were lifted. To better standardize care in these rare esophageal injuries, the development of a clinical care algorithm may be beneficial to provide clinicians with a guide for management based on outcomes of previously reported cases.
      PubDate: Tue, 18 Apr 2017 09:45:50 +000
       
  • Systemic Pseudohypoaldosteronism Type I: A Case Report and Review of the
           Literature

    • Abstract: Systemic pseudohypoaldosteronism (PHA) type I is a rare genetic disorder resulting from mutations in the subunits of the epithelial sodium channel that manifests as severe salt wasting, hyperkalemia, and metabolic acidosis in infancy. In this article we report a patient with systemic PHA type I presenting with severe dehydration due to salt wasting at 6 days of life. She was found to have a known mutation in the SCNN1A gene and subsequently required treatment with sodium supplementation. We also review the clinical presentation, differential diagnosis, and treatment of systemic PHA type I and summarize data from 27 cases with follow-up data.
      PubDate: Tue, 18 Apr 2017 06:43:42 +000
       
  • Pneumoperitoneum without Intestinal Perforation in a Neonate: Case Report
           and Literature Review

    • Abstract: Pneumoperitoneum in a preterm neonate usually indicates perforation of the intestine and is considered a surgical emergency. However, there are cases of pneumoperitoneum with no evidence of rupture of the intestine reported in the literature. We report a case of pneumoperitoneum with no intestinal perforation in a preterm neonate with respiratory distress syndrome who was on high frequency oscillatory ventilation (HFOV). He developed bilateral pulmonary interstitial emphysema with localized cystic lesion, likely localized pulmonary interstitial emphysema, and recurrent pneumothoraces. He was treated with dexamethasone to wean from the ventilator. Pneumoperitoneum developed in association with left sided pneumothorax following mechanical ventilation and cardiopulmonary resuscitation. Pneumoperitoneum resolved after the pneumothorax was resolved with chest tube drainage. He died from acute cardiorespiratory failure. At autopsy, there was no evidence of intestinal perforation. This case highlights the fact that pneumoperitoneum can develop secondary to pneumothorax and does not always indicate intestinal perforation or require exploratory laparotomy.
      PubDate: Sun, 16 Apr 2017 00:00:00 +000
       
  • Herpes Simplex Proctitis Mimicking Inflammatory Bowel Disease in a
           Teenaged Male

    • Abstract: We report the case of a 17-year-old male who was initially assessed for pain with defecation, bloody rectal discharge, and diarrhea, consistent with proctitis. Though proctitis is most commonly due to inflammatory bowel disease (IBD), infectious etiologies must also be considered, including sexually transmitted causes of infectious proctitis. In discussion of his sexual history, he identified as homosexual and acknowledged engaging in receptive anal intercourse. Rectal biopsies obtained via colonoscopy were culture-positive for herpes simplex virus (HSV), leading to a diagnosis of HSV proctitis and treatment with an appropriate antiviral medication. HSV proctitis is more common in individuals with high-risk sexual practices, including men who have sex with men. While this may be an uncommon diagnosis for pediatricians to make in practice, a high clinical index of suspicion for sexually transmitted infectious proctitis in those with risk factors must be maintained in order to facilitate appropriate testing, treatment, and counseling of affected individuals.
      PubDate: Tue, 04 Apr 2017 07:15:48 +000
       
  • The Complexity of Pain Management in Children Affected by
           Mucopolysaccharidoses

    • Abstract: Mucopolysaccharidoses (MPSs) are a group of rare, genetic lysosomal storage disorders. They are caused by deficiencies of the lysosomal enzymes involved in the degradation of glycosaminoglycans (GAGs). Pain is a common feature in mucopolysaccharidoses. However, the pathophysiology of pain in this group of diseases is still unclear and genesis of pain is multifactorial. Currently, poor data about pain management in these patients are available. Here, we present our clinical experience in complex pain management in three children with MPS.
      PubDate: Mon, 03 Apr 2017 09:06:10 +000
       
  • Identifying Potential Child Abuse through Oral Examination

    • Abstract: Limited reports of oropharyngeal trauma exist in the literature even though this type of injury is extremely common in pediatric populations. There are no widely agreed upon diagnostic and management tools for such injuries in abuse cases, emphasizing the importance of reporting rare cases of orofacial trauma. This case report of a soft palate laceration demonstrates an instance of initially unrecognized potential child abuse. We aim to clarify understanding of such injuries. Furthermore, the report highlights the need for recognition of oral signs of child abuse in order to promote early detection, reporting, and appropriate management.
      PubDate: Sun, 02 Apr 2017 08:35:47 +000
       
  • High-Risk Neuroblastoma with Metastases to Bilateral Kidneys at Diagnosis

    • Abstract: Renal metastasis at diagnosis with neuroblastoma is rare. We present a 14-month-old boy who was diagnosed with high-risk neuroblastoma with multiple metastases, including bilateral kidneys. He received five cycles of induction chemotherapy and high-dose chemotherapy with autologous peripheral blood stem cell transplantation. All of the lesions shrank, and magnetic resonance imaging indicated that some of the metastases had disappeared. However, there were residual masses in the bilateral kidneys, and histological examination revealed the presence of tumor cells. Therefore, the patient underwent unrelated cord blood stem cell transplantation, which involved killer-ligand incompatibility in the graft-versus-host direction, in addition to human leukocyte antigen C and DRB1 mismatches. Three months later, tumor progression occurred from the residual mass in the sacral canal and a new lesion in the pancreas. Although tumor progression could not be controlled by additional chemotherapy and local radiotherapy, the metastatic nodules in bilateral kidneys did not increase in size before his death. To the best of our knowledge, this is the first report of neuroblastoma with bilateral renal metastases in the English medical literature. In addition, this case suggests that the combination of chemotherapy and immunotherapy may inhibit the progression of the renal lesions under certain conditions.
      PubDate: Thu, 30 Mar 2017 10:12:39 +000
       
  • Novel Heterozygous Mutations in JAG1 and NOTCH2 Genes in a Neonatal
           Patient with Alagille Syndrome

    • Abstract: Alagille Syndrome (ALGS) is a rare autosomal dominant disorder that affects multiple organ systems. Cholestasis as a result of a paucity of intrahepatic bile ducts and congenital heart defects are the two most common features of ALGS. We describe a case of ALGS with novel mutations of JAG1 and NOTCH2 genes in a newborn girl with complex congenital heart disease, bilateral dysplastic kidneys, and malrotation with volvulus.
      PubDate: Wed, 29 Mar 2017 07:09:25 +000
       
 
 
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