Is Molecular Diagnosis Necessary for Children with Duchenne Muscular Dystrophy? |
Theme : Neonatology |
News in Brief |
Awakening the Spirits and Addressing the Safety Concerns in Childhood |
Flexible Bronchoscopic Removal of Foreign Bodies from Airway of Children: Single Center Experience Over 12 YearsAbstractObjective
To report our experience of tracheobronchial foreign body removal in children using flexible bronchoscopy as the primary mode.
Methods
Hospital records of tracheobronchial foreign body extractions between January, 2006 and January, 2018 were reviewed. Clinical presentations, radiological findings, location and types of tracheobronchial foreign bodies, types of bronchoscopes, complications and outcome of the procedures were analyzed.
Results
283 extractions in children with median (range) age of 18 (5–168) months were reviewed. Extraction by flexible bronchoscope, using wire baskets or grasping forceps, was successful in 260 cases. No major complications were encountered. Mean (SD) time for the procedure was 31 (6.3) minutes.
Conclusions
Airway foreign bodies can safely be removed by flexible bronchoscopy with minimal complications. This procedure can be considered the primary mode for removal of airway foreign bodies by a trained and experienced person.
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Vici Syndrome with a Novel Mutation in EPG5AbstractBackground
Vici syndrome is a neurodevelopmental disorder of the autophagy pathway. Almost all cases reported have the cardinal features of agenesis of corpus callosum, cataract, cardiomyopathy, immunodeficiency and hypopigmentation.
Case characteristics
8-month-old boy with developmental delay, myoclonic jerks, repeated respiratory infections, coarse facial features, cataract and hypopigmented hair. Echocardiography revealed dilated cardiomyopathy and magnetic resonance imaging of brain suggested agenesis of corpus callosum. Exome sequencing detected a novel homozygous nonsense mutation in the EPG5 gene.
Outcome
Establishing a definite diagnosis helped in proper prognostication, providing genetic counseling and prenatal diagnosis to the family.
Message
Though uncommon, presence of the characteristic features makes Vici syndrome a clinically recognizable cause of developmental delay.
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Ironing out the Iron Requirements of Children and Adolescents |
Flexible Fiberoptic Bronchoscopy Directed Interventions in Neonatal Intensive Care UnitAbstractObjective
To describe the utility of flexible fiberoptic bronchoscopy for the diagnosis and management in the neonatal ICU.
Methods
A retrospective, medical chart review was conducted in neonates who underwent flexible fiberoptic bronchoscopy over a period of 7 years. Besides demographic data and diagnostic findings, the results of medical and/or surgical interventions done by treating neonatologist were recorded.
Results
88 bronchoscopies were performed in 83 neonates, of which 37 were done through endotracheal tube. Indications included persistent need for mechanical ventilation (32), persistent atelectasis (21), and stridor (27). Most common airway anomalies diagnosed included tracheobronchomalacia (20), laryngomalacia (18), subglottic stenosis (7), choanal atresia (4), laryngeal cleft (4), and tracheoesophageal fistula (4). Surgical interventions were undertaken in 17 cases (9 tracheostomies and 2 cases of slide tracheoplasty).
Conclusion
Flexible fiberoptic bronchoscopy can be beneficial for the diagnosis and management of neonates with persistent or undiagnosed respiratory problems.
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Correspondence |
Continuous vs. Intermittent Insulin Delivery in Children and Adolescents with Type 1 Diabetes MellitusSummary
This multicenter, open label, parallel group, randomized controlled trial was conducted to compare the efficacy, safety, and cost utility of continuous subcutaneous insulin infusion (CSII) with multiple daily injection (MDI) regimens during the first year following diagnosis of type 1 diabetes mellitus (T1DM) in children and adolescents (7 mo – 15 y) in UK. A total of 294 participants with a new diagnosis of T1DM were randomized, stratified by age and treating center, to start treatment with CSII (n=145) or MDI (n=149) within 14 days of diagnosis. Primary outcome was glycemic control, as measured by glycated hemoglobin (HbA1c), at 12 months. At 12 months, mean HbA1c was comparable with clinically unimportant differences between CSII and MDI participants (60.9 mmol/mol vs 58.5 mmol/mol; mean difference 2.4 mmol/mol; 95% CI -0.4 to 5.3; P=0.09). Achievement of HbA1c lower than 58 mmol/mol was low among the two groups (66/143 (46%) CSII participants vs. 78/142 (55%) MDI participants (RR 0.84; 95% CI 0.67 to 1.06). Parents (but not children) reported superior pediatric quality of life inventory scores for those patients treated with CSII compared to those treated with MDI. The authors concluded that during the first year following diagnosis of T1DM, no clinical benefit of CSII over MDI was identified in children and young people in the UK setting, and treatment with either regimen was suboptimal in achieving HbA1c thresholds. CSII was not cost-effective.
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Medicine by Alexandros G. Sfakianakis,Anapafseos 5 Agios Nikolaos 72100 Crete Greece,00302841026182,00306932607174,alsfakia@gmail.com,
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Τετάρτη 7 Αυγούστου 2019
Αναρτήθηκε από
Medicine by Alexandros G. Sfakianakis,Anapafseos 5 Agios Nikolaos 72100 Crete Greece,00302841026182,00306932607174,alsfakia@gmail.com,
στις
12:29 π.μ.
Ετικέτες
00302841026182,
00306932607174,
alsfakia@gmail.com,
Anapafseos 5 Agios Nikolaos 72100 Crete Greece,
Medicine by Alexandros G. Sfakianakis
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