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1.
Cureus ; 16(1): e52781, 2024 Jan.
Article in English | MEDLINE | ID: mdl-38389633

ABSTRACT

Hamartomas are rare, tumour-forming, benign lesions that have been reported throughout the body that can resemble other malignant entities. Hamartoma subtypes can be distinguished based on their histological features. Sinonasal hamartomas may have presenting symptoms and radiological features that mimic other nasal neoplastic lesions. Therefore, it is essential to diagnose it accurately, as the treatment approaches can range from radical surgeries in malignant cases to a simple excision in hamartoma. In this paper, we report a novel case of sinonasal hamartoma, which demonstrates an unprecedented histological feature of glial tissue with astrocyte-like cells. Furthermore, we present the unconventional presenting symptoms and radiological features seen in this case that mimic the behaviours of nasal inverted papilloma (IP) lesions, thereby highlighting the need for careful investigation of such patients in order to distinguish both glial hamartoma and IP lesions. Concluding that identification of glial hamartoma as a new subtype of sinonasal hamartoma is crucial, as mistaking it for other lesions may subject patients to overly aggressive treatment and potential unnecessary harm.

2.
Monaldi Arch Chest Dis ; 93(2)2022 Jul 27.
Article in English | MEDLINE | ID: mdl-35904103

ABSTRACT

Pneumomediastinum (PNM) is a rare clinical finding, usually with a benign course, which is managed conservatively in the majority of cases. However, during the COVID-19 pandemic, an increased incidence of PNM has been observed. Several reports of PNM cases in COVID-19 have been reported in the literature and were managed either conservatively or surgically. In this study, we present our institutional experience of COVID-19 associated PNM, propose a management algorithm, and review the current literature. In total, 43 Case Series were identified, including a total of 747 patients, of whom 374/747 (50.1%) were intubated at the time of diagnosis, 168/747 (22.5%) underwent surgical drain insertion at admission, 562/747 (75.2%) received conservative treatment (observation or mechanical ventilation. Inpatient mortality was 51.8% (387/747), while 45.1% of the population recovered and/or was discharged (337/747). In conclusion, with increased incidence of PNM in COVID-19 patients reported in the literature, it is still difficult to assign a true causal relationship between PNM and mortality. We can, however, see that PMN plays an important role in disease prognosis.  Due to increased complexity, high mortality, and associated complications, conservative management may not be sufficient, and a surgical approach is needed.


Subject(s)
COVID-19 , Mediastinal Emphysema , Humans , COVID-19/complications , Mediastinal Emphysema/epidemiology , Mediastinal Emphysema/etiology , Mediastinal Emphysema/therapy , Pandemics , Prognosis , Hospitalization
3.
Aesthet Surg J ; 42(4): 435-443, 2022 03 15.
Article in English | MEDLINE | ID: mdl-34633039

ABSTRACT

BACKGROUND: The global COVID-19 pandemic has significantly impacted all aspects of healthcare, including the delivery of elective aesthetic surgery practice. A national, prospective data collection was carried out of the first aesthetic plastic surgery procedures performed during the COVID-19 pandemic in the United Kingdom. OBJECTIVES: The aim of this study was to explore the challenges aesthetic practice is facing and to identify if any problems or complications arose from carrying out aesthetic procedures during the COVID-19 pandemic. METHODS: Over a 6-week period from June 15 to August 2, 2020, data were collected by means of a proforma for aesthetic plastic surgery cases. All patients had outcomes recorded for an audit period of 14 days postsurgery. RESULTS: The results demonstrated that none of the 371 patients audited who underwent aesthetic surgical procedures developed any symptoms of COVID-19-related illness and none required treatment for any subsequent respiratory illness. CONCLUSIONS: No COVID-19-related cases or complications were found in a cohort of patients who underwent elective aesthetic procedures under strict screening and infection control protocols in the early resumption of elective service.


Subject(s)
COVID-19 , Surgery, Plastic , Elective Surgical Procedures , Humans , Pandemics/prevention & control , SARS-CoV-2 , United Kingdom/epidemiology
4.
Cell Rep ; 21(1): 97-109, 2017 Oct 03.
Article in English | MEDLINE | ID: mdl-28978487

ABSTRACT

Mutations in the Golgi SNARE (SNAP [soluble NSF attachment protein] receptor) protein Membrin (encoded by the GOSR2 gene) cause progressive myoclonus epilepsy (PME). Membrin is a ubiquitous and essential protein mediating ER-to-Golgi membrane fusion. Thus, it is unclear how mutations in Membrin result in a disorder restricted to the nervous system. Here, we use a multi-layered strategy to elucidate the consequences of Membrin mutations from protein to neuron. We show that the pathogenic mutations cause partial reductions in SNARE-mediated membrane fusion. Importantly, these alterations were sufficient to profoundly impair dendritic growth in Drosophila models of GOSR2-PME. Furthermore, we show that Membrin mutations cause fragmentation of the presynaptic cytoskeleton coupled with transsynaptic instability and hyperactive neurotransmission. Our study highlights how dendritic growth is vulnerable even to subtle secretory pathway deficits, uncovers a role for Membrin in synaptic function, and provides a comprehensive explanatory basis for genotype-phenotype relationships in GOSR2-PME.


Subject(s)
Dendrites/metabolism , Mutation , Myoclonic Epilepsies, Progressive/genetics , Qb-SNARE Proteins/genetics , Secretory Pathway/genetics , Synapses/metabolism , Animals , Dendrites/ultrastructure , Drosophila melanogaster/genetics , Drosophila melanogaster/metabolism , Female , Fibroblasts/cytology , Fibroblasts/metabolism , Gene Expression , Genetic Association Studies , Golgi Apparatus/metabolism , Humans , Male , Membrane Fusion , Myoclonic Epilepsies, Progressive/metabolism , Myoclonic Epilepsies, Progressive/pathology , Phenotype , Primary Cell Culture , Qb-SNARE Proteins/metabolism , Recombinant Proteins/genetics , Recombinant Proteins/metabolism , Saccharomyces cerevisiae/genetics , Saccharomyces cerevisiae/metabolism , Saccharomyces cerevisiae Proteins/genetics , Saccharomyces cerevisiae Proteins/metabolism , Synapses/pathology , Young Adult
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