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1.
Clinical Endoscopy ; : 532-539, 2022.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wpr-937347

RESUMO

Background/Aims@#Capsule enteroscopy (CE) and intestinal ultrasonography (IUS) are techniques that are currently used for investigating small-bowel (SB) diseases. The aim of this study was to compare the main imaging findings and the lesion detection rate (LDR) of CE and IUS in different clinical scenarios involving the SB. @*Methods@#We retrospectively enrolled patients who underwent CE and IUS for obscure gastrointestinal bleeding (OGIB), complicated celiac disease (CeD), and suspected or known inflammatory bowel disease (IBD). We evaluated the LDR of both techniques. The accuracy of IUS was determined using CE as the reference standard. @*Results@#A total of 159 patients (113 female; mean age, 49±19 years) were enrolled. The LDR was 55% and 33% for CE and IUS (p<0.05), respectively. Subgroup analysis showed that the LDR of CE was significantly higher than that of IUS in patients with OGIB (62% vs. 14%, p<0.05) and CeD (55% vs. 35%, p<0.05). IUS showed a similar LDR to CE in patients with suspected or known IBD (51% vs. 46%, p=0.83). @*Conclusions@#CE should be preferred in cases of OGIB and CeD, whereas IUS should be considered an early step in the diagnosis and follow-up of IBD even in patients with a proximal SB localization of the disease.

2.
Ann Anat ; 238: 151761, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-34139280

RESUMO

In Italy, recent legislation (Law No. 10/2020) has tuned regulations concerning the donation of one's postmortem body and tissues for study, training, and scientific research purposes. This study discusses several specific issues to optimise the applicability and effectiveness of such an important, novel regulatory setting. Critical issues arise concerning the learners, the type of training and teaching activities that can be planned, the position of academic anatomy institutes, the role of family members in the donation process, the time frame of the donation process, the eligibility of partial donation, or the simultaneous donation of organs and tissues to patients awaiting transplantation. In particular, a universal time limit for donations (i.e., one year) makes it impossible to plan the long-term use of specific body parts, which could be effectively preserved for the advanced teaching and training of medical students and surgeons. The abovementioned conditions lead to the limited use of corpses, thus resulting in the inefficiency of the whole system of body donation. Overall, the donors' scope for the donation of their body could be best honoured by a more flexible and tuneable approach that can be used on a case-by-case basis. Furthermore, it is deemed necessary to closely monitor the events scheduled for corpses in public nonacademic institutions or private enterprises. This paper presents useful insights from Italian anatomists with the hope of providing inspiration for drafting the regulations. In conclusion, this paper focuses on the critical issues derived from the recently introduced Italian law on the donation and use of the body after death and provides suggestions to lawmakers for future implementations.


Assuntos
Anatomistas , Estudantes de Medicina , Obtenção de Tecidos e Órgãos , Cadáver , Humanos , Itália , Doadores de Tecidos
3.
Preprint em Inglês | medRxiv | ID: ppmedrxiv-20248039

RESUMO

ObjectiveThe SARS-CoV-2 pandemic has spread across the world causing a dramatic number of infections and deaths. No data are available about the effects of an infection in patients affected by celiac disease (CD) in terms of the development of related symptoms and antibodies. We aimed to investigate the impact of the SARS-CoV-2 pandemic in celiac patients. DesignDuring a lockdown, the celiac patients living in the Milan area were contacted and interviewed about the development of COVID-19 symptoms as well as adherence to an anti-virus lifestyle and a gluten-free diet (GFD). They were also given a stress questionnaire to fill in. The development of anti-SARS-CoV-2 IgG and IgA (anti-RBD and N proteins) and the expression of the duodenal ACE2 receptor were investigated. When available, duodenal histology, anti-tissue transglutaminase IgA (tTGA), presence of immunologic comorbidities and adherence to the GFD were analysed as possible risk factors. Results362 celiac patients have been interviewed and 42 (11%) presented with COVID-19 symptoms. The presence of symptoms was not influenced by tTGA positivity, presence of duodenal atrophy or adherence to GFD. 37% of the symptomatic patients presented anti-SARS-CoV-2 immunoglobulins (Ig). Globally, 18% of celiac patients showed anti-SARS-CoV-2 Ig vs 25% of the non-celiac control (p=0.18). The values of anti-RBD IgG/IgA and anti-N IgG did not differ from the non-celiac controls. Celiac patients had a significant lower level of anti-N IgA. The ACE2 receptor was detected in the non-atrophic duodenal mucosa of celiac patients; atrophy was associated with a lower expression of the ACE2 receptor. ConclusionCD patients have an anti-SARS-CoV-2 Ig positiveness and profile similar to non-celiac controls, except for anti-N IgA. The main celiac parameters and adherence to the GFD do not influence the development of a different Ig profile. What is already known about this subject?The SARS-CoV-2 pandemic has spread across the world causing infections and deaths. little is known about the possible relationship between autoimmune comorbidities and SARS-CoV-2 infection and COVID-19, and nothing it known about celiac disease. What are the new findings?In a large cohort of celiac patients living in a high SARS-CoV-2 incidence area in Northern Italy, no difference was observed evidenced in terms of the development of anti-SARS-CoV-2 Ig and their IgG and IgA profile compared with the normal population How might it impact clinical practice in the foreseeable future?The absence of a relationship between celiac disease and SARS-CoV-2/COVID-19 has a relevant impact on health policy to control the pandemic by supporting an optimal resource location.

4.
Eur J Med Genet ; 60(4): 220-223, 2017 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-28159701

RESUMO

Interstitial deletions of the long arm of chromosome 12 are rare and only few cases have been reported in literature so far, with different phenotypic features related to size and gene content of deleted regions. Five patients reported a 12q15-q21 deletion, sharing a 1.3 Mb small region of overlap (SRO) and presenting with developmental delay, nasal speech and mild dysmorphic features. We identified by microarray analysis a new case of 12q15 deletion. Our patient clinical features allow the refinement of the SRO to CNOT2, KCNMB4, and PTPRB genes, improving genotype-phenotype correlations.


Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 12 , Hibridização Genômica Comparativa , Deficiências do Desenvolvimento/genética , Anormalidades Múltiplas/genética , Adulto , Feminino , Estudos de Associação Genética , Humanos , Subunidades beta do Canal de Potássio Ativado por Cálcio de Condutância Alta/genética , Masculino , Proteínas do Tecido Nervoso/genética , Proteínas Tirosina Fosfatases Classe 3 Semelhantes a Receptores/genética , Proteínas Repressoras/genética , Síndrome
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