Pediatric tracheostomy has been reported to be a surgical procedure with significant morbidity and mortality. The use of tracheostomy in airway management has changed over time as regards indication and outcome. A review of the last 13 years' experience in our institution was carried out to focus on this group of patients and the recent trends in airway management. A retrospective analysis of hospital records was done and information collected with respect to age, gender, indication for tracheostomy, duration, complications, and follow-up. Thirty-nine tracheotomies were done in 36 patients, of whom males outnumbered females 2:1. The mean patient age was 41.6 months while nearly a third were newborns. The indications were congenital and acquired obstructive lesions. Apart from nine cases, all have been treated and decannulated. Follow-up ranged from 1 month to 8 years, and decannulation time from 48 h to 45 months. Home tracheostomy care was very well managed by the parents. One tracheostomy-related death was encountered. Complications were minor and transient and occurred post-decannulation in our series, in contrast to the major complications, both acute and chronic, reported in the literature. More neonates and infants are undergoing tracheostomy and surviving. Pediatric tracheostomy is a safe procedure with home care by parents feasible.
Antiphospholipid antibody syndrome (APS) is characterized by recurrent thrombosis with the presence of circulating antiphospholipid antibodies. A diagnosis of APS requires the presence of at least one clinical and one laboratory criteria (detection of aCL IgG or IgM antibodies or the presence of lupus anticoagulant on two or more consecutive occasions 6 weeks apart). A severe, rapidly progressive form characterized by clinical involvement of at least three different organ systems with histopathological evidence of small and large vessel occlusion is termed catastrophic antiphospholipid syndrome. Early recognition of APS is crucial since aggressive management can result in a favorable outcome. We present the case of a 12-year-old boy who presented with a devastating illness with multiple thrombotic episodes and rapidly progressive renal failure.
To study the impact of Baby friendly policies on lactation success, a semi-structured questionnaire was administered to mothers of babies attending the well baby clinic of an urban tertiary care Baby Friendly Hospital. The feeding practices of outborn babies was compared to inborn babies (Baby friendly hospital). No major differences were found in the duration and success of lactation among the 2 groups. More intensive efforts and public awareness is required if the ideals of a baby friendly hospital are to be met.
An 8-yr-old female child presented with acute onset of severe pain in the lower limbs and difficulty in walking. Spine MRI showed hyperintense signals on T2 weighted images at T2-T3 level, which was intramedullary in location. The patient was operated and histopathology reported as neuroepithelial cyst. Spinal intramedullary neuroepithelial cysts are rare. Spinal cord compression due to the cyst is very uncommon and because of its rarity the present case is being reported. The clinical features, embryogenesis and literature were reviewed briefly.
3600 mg/dl; IgM 126 mg/dl), elevated serum amyloid A levels (160 mg/ml) and decreased CD4/CD8 T cell ratio. Autoantibody (ANA, ENA, anti-DNA) and HLA B 27 were negative. WES analysis showed the de novo heterozygous missense variation c.C1132A (p.H378N) in PIM-1 gene (NM_001243186). This variation was never described in on-line database (HGMD, Exac, 1000 g, ESP6500). The second patient was an adult female with a clinical history of persistent microcytic anemia, splenomegaly, striking hypergammaglobulinemia (IgG > 3000 mg/dL) and recurrent protracted fever episodes during childhood. At 13 years, she underwent splenectomy because of hypersplenism. At 28 years she presented a cerebral oligoastrocytoma that was removed by surgery. No mutations were found in genes associated with autoimmune lymphoproliferative syndromes and histiocytosis (FAS, FASLG, XIAP, TNFRSF13B, UNC13D, CASP9, CASP10). The direct sequencing of PIM-1 revealed again the above described de novo mutation in PIM-1. Conclusion:We propose that these patients represent two cases of a novel syndrome associated with a specific mutation in PIM-1 gene (PLAS). First, the two cases share significant overlap of autoinflammatory and proliferative features involving the endothelial and the immune systems. Second, the gene mutation identified was never described in healthy people or in patients with other disorders and is predicted to be pathogenic based on all the bionformatic tools. Finally, previous functional studies showed that PIM-1 pathway is relevant to immune activation and indeed somatic mutations in this gene have been reported in association with lymphomas, and it is thought to contribute to survival of cancerous cells. Disclosure of Interest None Declared O6Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset systemic autoinflammatory disease
Introduction: Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenopathy (PFAPA) syndrome is a non Mendelian autoinflammatory disorder until now considered to be specifically limited to paediatric age. However there is recently mounting evidence that children older than 5 years and adults may present with the typical picture of PFAPA syndrome. Objectives: We report the case of a 17,5 years old girl presenting with recurrent episodes of fever starting at the age of 16. Methods: A 17,5 years old girl was referred to our department due to recurrent episodes of fever lasting 3-4 days and starting 1,5 year ago. Body temperature usually increased up to 40.5∘C. Fever was accompanied by exudative pharyngitis, cervical lympadenopathy, severe malaise and myalgias/artralgias. Oral apthosis was present in some of the episodes. There was no other sign of upper respiratory tract infection. Headache and fatigue were evident 2-3 days before each flare.The episodes recurred very regularly showing an almost clockwork periodicity (every 35-40 days). The girl was completely asymptomatic between flares with normal growth and development. The girl's mother suffered from similar episodes of exudative pharyngitis until approximately the age of 12. Results: Laboratory exams during febrile attacks showed mild leukocytosis with prominence of neutrophils and a significant increase of monocytes. Erythrocyte sedimentation rate,C-reactive protein and Serum Amyloid A were also raised. Serum immunoglobulin levels (including IgD) were normal. During episodes all the cultures were negative.Inflammatory markers were completely normal between attacks.The girl was diagnosed with PFAPA syndrome based on Marshall criteria revised by Thomas et al.,neglecting the item of disease onset before the age of five. Genetic testing for FMF is pending. Tonsillectomy was not proposed as a therapeutic option because it seems not to be effective in adults, based on current literature. A single dose of prednisone (1 mg/ kg) given a few hours after the onset of fever dramatically abrupted fever attack in a few hours, supporting the diagnosis of PFAPA.The girl did not experience a free interval shortening after steroid administration. Conclusion: Once thought to be exclusive of the pediatric age, it is nowadays clear that PFAPA syndrome may have its onset in adulthood. Clinical features of PFAPA adults are overlapping with those of PFAPA children.To date, it is not known whether adults with PFAPA syndrome may spontaneously undergo clinical remission, and tonsillectomy does not seem to be a valid option in these patients. The description of PFAPA syndrome in adults should increase awareness among clinicians and suggests that the age criterion (i.e., age at onset less than 5 years) should not be considered mandatory for diagnosis Disclosure of Interest None Declared Disease outcome B2 Case of paraneoplastic arthritis in child
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.