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1.
Ultrasound ; 31(1): 66-70, 2023 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-36794117

RESUMO

Introduction: It is a rare, but recognised phenomenon that malignant testicular germ cell tumours can 'burn-out', where the primary lesion spontaneously regresses and presents with no viable remaining malignant cells leaving only a residual 'tumour scar', frequently in the context of distant metastatic disease. Case Report: We present a case report of a patient who underwent serial ultrasound scans documenting regression of a testicular lesion from a malignant appearance to a burned-out lesion, where subsequent resection and histology demonstrated features of a completely regressed seminomatous germ cell tumour with no residual viable tumour cells. Discussion: To the best of our knowledge, there are no previously documented cases where a tumour has been longitudinally followed from sonographic features of concern for malignancy to 'burned-out' appearances. Spontaneous testicular tumour regression has instead been inferred based on the presence of a 'burned-out' testicular lesion in patients presenting with distant metastatic disease. Conclusion: This case provides further evidence supporting the concept of spontaneous testicular germ cell tumour regression. Ultrasound practitioners should be aware of this rare phenomenon in men presenting with metastatic germ cell tumour and, additionally, that this condition may present with acute scrotal pain.

2.
J Pathol Inform ; 13: 4, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35136671

RESUMO

BACKGROUND: The objective of the project was to evaluate the feasibility of introducing a single-networked digital histopathology reporting platform in the Southwest Peninsula region of England by allowing pathologists to experience the technology and recording their perceptions. This information was then used in planning future service development. The project was funded by the National Health Service (NHS) Peninsula Cancer Alliance and took place in 2020 during the COVID-19 pandemic. MATERIALS AND METHODS: Digital slides of 500 cases from Taunton were reported remotely in Truro, Plymouth, Exeter, Bristol, or Bath by using a single remote reporting platform located on the secure Health and Social Care Network (HSCN) that links NHS sites. These were mainly small gastrointestinal, skin, and gynecological specimens. The digital diagnoses were compared with the diagnoses issued on reporting the glass slides. At the end of the project, the pathologists completed a Google Forms questionnaire of their perceptions of digital pathology. The results were presented at a meeting with the funder and discussed. RESULTS: From the 500 cases there were nine cases of significant diagnostic discrepancy, seven of which involved the misrecognition of Helicobacter pylori in gastric biopsies. The questionnaire at the end of the project showed that there was a general agreement that the platform was easy to use, and the image quality was acceptable. It was agreed that extra work, such as deeper levels, was easy to request on the software platform. Most pathologists did not agree that digital reporting was quicker than glass slide reporting. Some were less confident in their digital diagnoses than glass diagnoses. They agreed that some types of specimens cannot easily be reported digitally. All users indicated that they would like to report at least half of their work digitally in the future if they could, and all strongly agreed that digital pathology would improve access to expert opinions, teaching, and multidisciplinary meetings. It was difficult to find pathologists with time to undertake remote digital reporting, in addition to their existing commitments. CONCLUSIONS: Overall, the pathologists developed a positive perception of digital pathology and wished to continue using it.

3.
Respiration ; 101(1): 57-62, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-34515221

RESUMO

BACKGROUND: Malignant cervical lymphadenopathy in the setting of lung cancer represents N3 disease, and neck ultrasound (NUS) with sampling is described in the Royal College of Radiologists ultrasound training curriculum for the non-radiologists. This study reviews the incorporation of NUS +/- biopsy in the routine practice of a lung cancer fast-track clinic in the UK. METHODS: We retrospectively assessed 29 months of activity of a lung cancer fast-track clinic. Systematic focused NUS was conducted in suspected thoracic malignancy, sampling nodes with a ≥5-mm short axis, under real-time US using a linear probe (5-12 Mhz). Fine-needle aspirations (FNAs) with or without 18 Ga core biopsies were taken. RESULTS: Between August 2017 and December 2019, of 152 peripheral lymph nodes (LNs)/deposits sampled, 98 (64.5%) were supraclavicular fossa LNs with median [IQR] size 12 [8-18] mm. Core biopsies were performed in 54/98 (55%) patients, while all patients had FNAs. No complications occurred. The representative yield was 90/95 (94.7%) in cases with suspected cancer. No difference was seen between FNA versus core biopsy (p = 0.44). Of the 5 non-diagnostic samples, one was FNA only. The commonest diagnosis was lung cancer in 66/98 (67.3%). PDL-1 was sufficient in 35/36 tested (97.2%). ALK-FISH was successful in 24/25 (96%) cases. EGFR mutation analysis was successful in 28/31 (90.3%) cases. Median time from clinic to initial diagnosis was 7 [5-10] days. Computed tomography (CT) scans reported no significant lymphadenopathy in 18/96 (18.7%) cases, yet 10/18 (55.5%) cases were positive for malignancy. CONCLUSION: Neck nodal sampling by respiratory physicians was safe, timely, with a high diagnostic yield and suitability for molecular testing. Neck US can provide a timely diagnosis in cases that may be missed by CT alone.


Assuntos
Neoplasias Pulmonares , Linfadenopatia , Humanos , Neoplasias Pulmonares/complicações , Neoplasias Pulmonares/diagnóstico por imagem , Linfonodos/diagnóstico por imagem , Linfonodos/patologia , Linfadenopatia/patologia , Estadiamento de Neoplasias , Pneumologistas , Estudos Retrospectivos
4.
Am J Med Genet A ; 182(3): 553-556, 2020 03.
Artigo em Inglês | MEDLINE | ID: mdl-31833208

RESUMO

Familial amniotic band sequence (ABS) is rare but has been reported in the offspring of mothers with connective tissue disorders. We present a family of two half-siblings with ABS who share the same biological father. Following a serious vascular event a de novo pathogenic variant in COL3A1 was detected in the father, confirming a diagnosis of vascular Ehlers-Danlos syndrome (vEDS). The same variant was found in both his ABS-affected children but not in his unaffected child. The amniotic membrane is derived from fetal tissue, type III collagen being a component. As the affected children are paternal half-siblings, ABS was less likely due to maternal factors. Rather, the amniotic bands may have resulted from decreased type III collagen production as seen in people with vEDS, causing fragility of the amniotic membrane. Consequently, it is important to consider vEDS in patients with ABS.


Assuntos
Síndrome de Bandas Amnióticas/genética , Colágeno Tipo III/genética , Síndrome de Ehlers-Danlos/genética , Adulto , Síndrome de Bandas Amnióticas/complicações , Síndrome de Bandas Amnióticas/diagnóstico , Síndrome de Bandas Amnióticas/patologia , Criança , Doenças do Tecido Conjuntivo/complicações , Doenças do Tecido Conjuntivo/diagnóstico , Doenças do Tecido Conjuntivo/genética , Doenças do Tecido Conjuntivo/patologia , Síndrome de Ehlers-Danlos/complicações , Síndrome de Ehlers-Danlos/diagnóstico , Síndrome de Ehlers-Danlos/patologia , Feminino , Humanos , Recém-Nascido , Masculino , Mutação/genética , Herança Paterna/genética , Fenótipo , Irmãos
5.
Lancet Neurol ; 9(3): 245-53, 2010 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-20133204

RESUMO

BACKGROUND: Pulsed high-dose dexamethasone induced long-lasting remission in patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) in a pilot study. The PREDICT study aimed to compare remission rates in patients with CIDP treated with high-dose dexamethasone with rates in patients treated with standard oral prednisolone. METHODS: In eight neuromuscular centres in the Netherlands and one in the UK, patients aged 18 years or older who had newly diagnosed definite or probable CIDP were randomly assigned to a treatment regimen of either pulsed high-dose dexamethasone or standard oral prednisolone. Randomisation was done with a random number generator. The primary outcome measure was remission at 12 months, defined as improvement of at least three points on the Rivermead mobility index and improvement of at least one point on the inflammatory neuropathy cause and treatment disability scale. Analysis was by intention to treat. This trial is registered with Current Controlled Trials, number ISRCTN07779236. FINDINGS: Between December, 2003, and December, 2008, 40 patients were treated: 24 received dexamethasone and 16 received prednisolone. At 12 months, 16 patients were in remission: ten in the dexamethasone group and six in the prednisolone group (odds ratio [OR] 1.2, 95% CI 0.3-4.4). Most adverse events were minor and did not differ substantially between treatment groups; however, sleeplessness and Cushing's face occurred more often in the prednisolone group. INTERPRETATION: Pulsed high-dose dexamethasone treatment did not induce remission more often than prednisolone treatment. A substantial proportion of patients were in remission at 12 months in both treatment groups. High-dose dexamethasone could be considered as induction therapy in CIDP, but comparison with intravenous immunoglobulin treatment is needed. FUNDING: The Prinses Beatrix Fonds (MAR01-0213) and the Department of Neurology, Academic Medical Center.


Assuntos
Dexametasona/administração & dosagem , Polirradiculoneuropatia Desmielinizante Inflamatória Crônica/tratamento farmacológico , Prednisolona/uso terapêutico , Adulto , Idoso , Idoso de 80 Anos ou mais , Relação Dose-Resposta a Droga , Método Duplo-Cego , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Projetos Piloto , Polirradiculoneuropatia Desmielinizante Inflamatória Crônica/fisiopatologia , Prednisolona/administração & dosagem , Indução de Remissão , Resultado do Tratamento
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