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1.
Ann Med Surg (Lond) ; 85(3): 485-487, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37008170

RESUMO

Coronavirus disease 2019 (COVID-19) is a worldwide pandemic systemic infection that is responsible for serious coagulopathies similar to disseminated intravascular coagulation. Case Presentation: The authors report the case of a COVID-19 patient who presented with phlegmasia cerulea dolens (PCD) of the left lower limb, so he benefited from aponeurotomies of the internal and anterolateral muscular compartments. Clinical Discussion: The severe acute respiratory syndrome coronavirus 2 involves an inflammatory process in thrombotic events in COVID-19 patients, including a cytokine storm. PCD evolves in three semiological phases: venous stasis, weakening of the pulses, and the constitution of major ischemia. In the literature, the authors find many reports that have been published regarding increased thrombus formation in COVID-19 patients; these include DVT formation, pulmonary embolism, and stroke. Nevertheless, publications concerning PCD in COVID-19 patients remain rare. Conclusion: Although the severe acute respiratory syndrome coronavirus 2 remains a thrombogenic pathology, systematic anticoagulation is the subject of hypothesis. Hence the importance of regular monitoring of markers of vascular thrombosis.

2.
Ann Med Surg (Lond) ; 85(3): 509-510, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37008174

RESUMO

Diclofenac sodium is a nonsteroidal anti-inflammatory, the injection of which by the intra-arterial route can lead to serious vascular complications, including limb ischemia. Case presentation: We report the case of accidental intra-arterial injection of diclofenac sodium in the brachial artery leading to acute limb ischemia. Clinical discussion: Iatrogenic intra-arterial injection is rarely reported in the literature; however, it is toxic and can lead to limb amputation. Only two cases of intra-arterial injection of diclofenac have been reported in the literature. The proposed pathophysiological mechanism is vasospasm, intravascular thrombosis, and chemical endoarteritis. The most common anatomical location in accidental intra-arterial injection is the antecubital fossa, where branches of the ulnar and brachial arteries are more superficial. Conclusion: The injection of medication must be as careful as possible, since the intra-arterial injection can affect the functional prognosis of the organ.

3.
Ann Med Surg (Lond) ; 76: 103523, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-35495400

RESUMO

Introduction: Cannabis is commonly misused psychoactive drug which is known to be associated with a number of psychotic and somatic side-effects. Cannabis arteritis is a rare vascular disorder, since only about fifty cases have been reported in the literature. Case presentation: We report a case of a 40-year-old chronic cannabis user male, who was admitted for painful necrosis of the fifth toe of the right foot. The etiological investigation ruled out the main causes of juvenile arterial disease. Therefore cannabis was the only causative factor found in this patient. An amputation of the fifth toe was performed 20 days later of administrating Prostacyclin (Iloprost) , with a good postoperative improvement. Discussion: The main causes of juvenile arterial disease are: atheromatous arterial disease, thromboangiitis obliterans (Buerger's disease) , systemic or autoimmune diseases. The diagnosis of cannabis arteritis remains a diagnosis of exclusion. it remains a rare phenomenon which is responsible for various symptoms, which can go as far as the amputation of the limb. Several authors have classified cannabis arteritis as a clinical form of Buerger's disease, due to similar clinical semiology and similar appearance at arteriography. Nowadays, we don't know exactly the histopathologic patterns of this pathology. Conclusion: Although several therapeutic options exist, Cannabis weaning still the main part of cannabis arteritis treatment.

4.
Exp Dermatol ; 31(5): 775-780, 2022 05.
Artigo em Inglês | MEDLINE | ID: mdl-34913528

RESUMO

Neurofibromatosis 1 (NF1) is caused by germline mutations in the NF1 gene and manifests as proliferation of various tissues, including plexiform neurofibromas. The plexiform neurofibroma phenotype varies from indolent to locally aggressive, suggesting contributions of other modifiers in addition to somatic loss of NF1. In this study, we investigated a life-threatening plexiform neurofibroma in a 9-month-old female infant with NF1. Germline mutations in two RASopathy-associated genes were identified using whole-exome sequencing-a de novo pathogenic variant in the NF1 gene, and a known pathogenic variant in the LZTR1 gene. Somatic analysis of the plexiform neurofibroma revealed NF1 loss of heterozygosity and a variant in GNAZ, a gene encoding a G protein-coupled receptor. Cells expressing mutant GNAZ exhibited increased ERK 1/2 activation compared to those expressing wild-type GNAZ. Taken together, we suggest the variants in NF1, LZRT1 and GNAZ act synergistically in our patient, leading to MAPK pathway activation and contributing to the severity of the patient's plexiform neurofibromatosis. After treatment with the MEK inhibitor, trametinib, a prominent clinical improvement was observed in this patient. This case study contributes to the knowledge of germline and somatic non-NF1 variants affecting the NF1 clinical phenotype and supports use of personalized, targeted therapy.


Assuntos
Neurofibroma Plexiforme , Neurofibromatose 1 , Feminino , Subunidades alfa de Proteínas de Ligação ao GTP/genética , Subunidades alfa de Proteínas de Ligação ao GTP/metabolismo , Heterozigoto , Humanos , Quinases de Proteína Quinase Ativadas por Mitógeno , Neurofibroma Plexiforme/tratamento farmacológico , Neurofibroma Plexiforme/genética , Neurofibroma Plexiforme/metabolismo , Neurofibromatose 1/tratamento farmacológico , Neurofibromatose 1/genética , Neurofibromatose 1/patologia , Neurofibromina 1 , Inibidores de Proteínas Quinases/farmacologia , Inibidores de Proteínas Quinases/uso terapêutico , Fatores de Transcrição/genética
5.
Dig Dis Sci ; 62(8): 2095-2101, 2017 08.
Artigo em Inglês | MEDLINE | ID: mdl-28547648

RESUMO

BACKGROUND: Data on inflammatory bowel disease (IBD) phenotypes among the Arab population in Israel or in the neighboring Arab countries is scarce. AIM: We aimed to assess differences in disease phenotype among Arab and Jewish children living in Israel. METHODS: We performed a retrospective chart review of pediatric IBD cases, which were diagnosed at the Schneider Children's Medical Center and Ha'Emek Medical Center in Israel between 2000 and 2014. Demographic, clinical, and phenotypic variables were compared between Arabs and Jews from Eastern (Sephardic) and Western (Ashkenazi) origin. RESULTS: Seventy-one Arab children with IBD were compared with 165 Ashkenazi and 158 Sephardic Jewish children. Age and gender did not differ between groups. Sephardic and Ashkenazi Jewish Crohn's disease (CD) patients had significantly more stenotic behavior (24 and 26 vs. 5%, p = 0.03) and less fistulzing perianal disease (15 and 11 vs. 31%, p = 0.014) compared with Arab patients. Arab children with ulcerative colitis (UC) had more severe disease at diagnosis compared to Sephardic and Ashkenazi Jews reflected by higher Pediatric UC Activity Index (45 vs. 35 and 35, respectively, p = 0.03). Arab patients had significantly lower proportion of anti-Saccharomyces cerevisiae antibodies positivity (in CD) and perinuclear anti-neutrophil cytoplasmic antibodies positivity (in UC) than both Sephardic and Ashkenazi Jewish children (23 vs. 53 and 65%, p = 0.002 and 35 vs. 60 and 75%, respectively, p = 0.002). CONCLUSION: Arab and Jewish children with IBD differ in disease characteristics and severity. Whether genetic or environmental factors are the cause for these differences is yet to be determined.


Assuntos
Árabes/estatística & dados numéricos , Colite Ulcerativa/etnologia , Doença de Crohn/etnologia , Judeus/estatística & dados numéricos , Fenótipo , Adolescente , Anticorpos Anticitoplasma de Neutrófilos/sangue , Anticorpos Antifúngicos/sangue , Criança , Pré-Escolar , Colite Ulcerativa/sangue , Colite Ulcerativa/patologia , Doença de Crohn/sangue , Doença de Crohn/patologia , Feminino , Humanos , Israel , Masculino , Estudos Retrospectivos , Saccharomyces cerevisiae/imunologia , Índice de Gravidade de Doença
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