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1.
Dig Dis Sci ; 2024 Apr 18.
Artigo em Inglês | MEDLINE | ID: mdl-38637458

RESUMO

BACKGROUND: Many women grow up dreaming of becoming doctors, preferring specialties that allow more focus on time outside the hospital and on family life. Nowadays, specialties, like gastroenterology, have still a significant gender gap. METHODS: Based on this known discrepancy, a web-based questionnaire was designed by the Young Component of the Scientific Committee of the Federation of Italian Scientific Societies of Digestive Diseases 2023 (FISMAD) to examine the current situation of female gastroenterologists in Italy. The survey, designed specifically for this study, was sent by email to all female gastroenterologists and residents gastroenterologists, members of the three major Italian societies of Gastroenterology. RESULTS: A total of 423 female physicians responded to the survey: 325 (76.8%) had full-time employment, and only a few had an academic career (7.2%). The main occupations were outpatient clinics (n = 288, 68%) and diagnostic endoscopy (n = 289, 68.3%); only 175 (41.3%) performed interventional endoscopy. One hundred and forty-seven (34.7%) had the chance to attend a master in advanced or interventional endoscopy, while 133 (31.4%) faced disadvantages that enabled them to attend. Of the 244 (58%) who reported feeling underappreciated, 194 (79.5%) said it was due to gender bias. We found that women doctors considered themselves disadvantaged compared with men doctors due to career opportunities (n = 338), salary negotiations (n = 64), and training opportunities (n = 144). CONCLUSIONS: In conclusion, gastroenterology still has a long way to go before approaching greater gender parity.

2.
Dig Liver Dis ; 56(4): 589-600, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38216439

RESUMO

The present paper reflects the position of the Italian Association for Neuroendocrine Tumors (Itanet), the Italian Society of Gastroenterology (SIGE), and the Italian Society of Digestive Endoscopy (SIED) regarding the management of patients affected by gastric, duodenal, and rectal neuroendocrine neoplasms (NENs) amenable to endoscopic treatment. The key questions discussed in this paper are summarized in Table 1. Data were extracted from the MEDLINE database through searches; expert opinions and recommendations are provided in accordance with the available scientific evidence and the authors' expertise. Recommendations are presented alongside a level of evidence and grade of recommendation based on the GRADE system. This paper specifically focuses on subgroups of NENs considered suitable for endoscopic management according to current international guidelines: i. well-differentiated gastric neuroendocrine tumors (gNET) type 1 < 2 cm and selected cases of type 3; ii. well-differentiated duodenal, non-functioning, non-ampullary NET with size < 2 cm; and well-differentiated rectal NET with size < 2 cm.


Assuntos
Gastroenterologia , Tumores Neuroendócrinos , Neoplasias Gástricas , Humanos , Tumores Neuroendócrinos/patologia , Endoscopia Gastrointestinal , Neoplasias Gástricas/patologia , Itália
3.
Dig Liver Dis ; 2023 Dec 16.
Artigo em Inglês | MEDLINE | ID: mdl-38105148

RESUMO

The implementation of FIT programs reduces incidence and mortality from CRC in the screened subjects. The ultimate efficacy for CRC morbidity and mortality prevention in a FIT program depends on the colonoscopy in FIT+ subjects that has the task of detecting and removing these advanced lesions. Recently, there has been growing evidence on factors that influence the quality of colonoscopy specifically withing organized FIT programs, prompting to dedicated interventions in order to maximize the benefit/harm ratio of post-FIT colonoscopy. This document focuses on the diagnostic phase of colonoscopy, providing indications on how to standardise colonoscopy in FIT+ subjects, regarding timing of examination, management of antithrombotic therapy, bowel preparation, competence and sedation.

4.
Int J Surg ; 109(10): 2991-2995, 2023 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-37418579

RESUMO

BACKGROUND: MRI and rectal endosonography (EUS) are routinely used for preoperative tumor staging and assessment of response to therapy in patients with rectal cancer. This study aimed to evaluate the accuracy of the two techniques in predicting the pathological response compared to the resected specimen and the agreement between MRI and EUS and to define the factors that could affect the ability of EUS and MRI to predict pathological responses. MATERIALS AND METHODS: This study included 151 adult patients with middle or low rectal adenocarcinoma treated with neoadjuvant chemoradiotherapy, followed by curative intent elective surgery in the Oncologic Surgical Unit of a hospital in the north of Italy between January 2010 and November 2020. All patients underwent MRI and rectal EUS. RESULTS: The accuracy of EUS to evaluate the T stage was 67.48%, and for the N stage was 75.61%; the accuracy of MRI to evaluate the T stage was 75.97%, and that for the N stage was 51.94%. The agreement in detecting the T stage between EUS and MRI was 65.14% with a Cohen's kappa of 0.4070 and that for the evaluation of the lymph nodes between EUS and MRI was 47.71% with a Cohen's kappa of 0.2680. Risk factors that affect the ability of each method to predict pathological response were also investigated using logistic regression. CONCLUSIONS: EUS and MRI are accurate tools for rectal cancer staging. However, after Radiotherapy - Chemotherapy RT-CT, neither method is reliable for establishing the T stage. EUS seems significantly better than MRI for assessing the N stage. Both methods can be used as complementary tools in the preoperative assessment and management of rectal cancer, but their role in the assessment of residual rectal tumors cannot predict the complete clinical response.


Assuntos
Endossonografia , Neoplasias Retais , Adulto , Humanos , Endossonografia/métodos , Procedimentos Clínicos , Imageamento por Ressonância Magnética , Neoplasias Retais/diagnóstico por imagem , Neoplasias Retais/terapia , Neoplasias Retais/patologia , Estadiamento de Neoplasias , Terapia Neoadjuvante
5.
Diagnostics (Basel) ; 12(7)2022 Jun 28.
Artigo em Inglês | MEDLINE | ID: mdl-35885477

RESUMO

Background: Total mesorectal excision (TME) is the gold standard to treat locally advanced rectal cancer. This monocentric retrospective study evaluates the results of laparotomic, laparoscopic and robotic surgery in "COMRE GROUP" (REctalCOMmittee). Methods: 327 selected stage I-II-III patients (pts) underwent TME between November 2005 and April 2020 for low or middle rectal cancer; 91 pts underwent open, 200 laparoscopic and 36 robotic TME. Of these, we analyzed the anthropomorphic, intraoperative, anatomopathological parameters and outcome during the follow up. Results: The length of hospital stay was significantly different between robotic TME and the other two groups (8.47 ± 3.54 days robotic vs. 11.93 ± 5.71 laparotomic, p < 0.001; 8.47 ± 3.54 robotic vs. 11.10 ± 7.99 laparoscopic, p < 0.05). The mean number of harvested nodes was higher in the laparotomic group compared to the other two groups (19 ± 9 laparotomic vs. 15 ± 8 laparoscopic, p < 0.001; 19 ± 9 laparotomic vs. 15 ± 7 robotic, p < 0.05). Median follow-up was 52 months (range: 1−169). Overall survival was significantly shorter in the open TME group compared with the laparoscopic one (Chi2 = 13.36, p < 0.001). Conclusions: In the experience of the "COMRE" group, laparoscopic TME for rectal cancer is a better choice than laparotomy in a multidisciplinary context. Robotic TME has a significant difference in terms of hospital stay compared to the other two groups.

6.
Liver Int ; 42(8): 1861-1871, 2022 08.
Artigo em Inglês | MEDLINE | ID: mdl-35302273

RESUMO

BACKGROUND AND STUDY AIM: The traditional endoscopic therapy of anastomotic strictures (AS) after orthotopic liver transplantation (OLT) is multiple ERCPs with the insertion of an increasing number of plastic stents side-by-side. Fully covered self-expanding metal stents (cSEMS) could be a valuable option to decrease the number of procedures needed or non-responders to plastic stents. This study aims to retrospectively analyse the results of AS endoscopic treatment by cSEMS and to identify any factors associated with its success. PATIENTS AND METHODS: Ninety-one patients (mean age 55.9 ± 7.6 SD; 73 males) from nine Italian transplantation centres, had a cSEMS positioned for post-OLT-AS between 2007 and 2017. Forty-nine (54%) patients were treated with cSEMS as a second-line treatment. RESULTS: All the procedures were successfully performed without immediate complications. After ERCP, adverse events occurred in 11% of cases (2 moderate pancreatitis and 8 cholangitis). In 49 patients (54%), cSEMSs migrated. After cSEMS removal, 46 patients (51%) needed further endoscopic (45 patients) or radiological (1 patient) treatments to solve the AS. Lastly, seven patients underwent surgery. Multivariable stepwise logistic regression showed that cSEMS migration was the only factor associated with further treatments (OR 2.6, 95% CI 1.0-6.6; p value 0.03); cSEMS implantation before 12 months from OLT was associated with stent migration (OR 5.2, 95% CI 1.7-16.0; p value 0.004). CONCLUSIONS: cSEMS appears to be a safe tool to treat AS. cSEMS migration is the main limitation to its routinary implantation and needs to be prevented, probably with the use of new generation anti-migration stents.


Assuntos
Colestase , Transplante de Fígado , Colangiopancreatografia Retrógrada Endoscópica/efeitos adversos , Colestase/etiologia , Colestase/cirurgia , Constrição Patológica/cirurgia , Humanos , Transplante de Fígado/efeitos adversos , Masculino , Pessoa de Meia-Idade , Plásticos , Estudos Retrospectivos , Silicatos , Stents/efeitos adversos , Resultado do Tratamento
7.
Am J Health Syst Pharm ; 79(11): 844-851, 2022 05 24.
Artigo em Inglês | MEDLINE | ID: mdl-35084448

RESUMO

PURPOSE: To assess the impact on readmission rates for CMS core measures (CCM) patients and patients receiving care under the Bundled Payment for Care Improvement (BPCI) Advanced Model resulting from implementing a pharmacist-led transitions of care (TOC) clinic in central Florida. METHODS: These study cohorts consisted of patients in 2 strata (CCM and BPCI), and pre-post comparisons were conducted within each stratum. CCM and BPCI patient stratification was based on diagnoses. Patients referred to the TOC clinic were identified and compared to patients who did not receive TOC clinic services in the prior year. The pharmacist-led TOC clinic services consisted of a postdischarge telephone interview by a pharmacist to identify TOC barriers. Pharmacists in the TOC clinic conducted medication reconciliations, provided education, and completed follow-up telephone visits to mitigate these barriers. The primary outcome was the 30-day readmission rate for CCM patients and 90-day readmission rate for BPCI patients. The secondary outcomes were the numbers and types of interventions performed in the pharmacist-led TOC clinic. RESULTS: A total of 1,203 patients met the inclusion criteria for the CCM stratum. The CCM post-group had an overall reduction in the rate of 30-day readmission relative to the pre-group (6.25% vs 13.29%, P < 0.0327). A total of 1,416 patients met the inclusion criteria for the BPCI strata. Relative to the BPCI pre-group, the BPCI post-group had an overall reduction in occurrence of 90-day readmission (17.27% vs 25.61%, P < 0.0306). Clinical pharmacists performed 456 interventions in the CCM and BPCI post-groups, with an average of 2 interventions per patient. CONCLUSION: A pharmacist-driven TOC clinic was associated with significant reductions in 30-day CCM and 90-day BPCI hospital readmissions.


Assuntos
Farmacêuticos , Serviço de Farmácia Hospitalar , Assistência ao Convalescente , Humanos , Reconciliação de Medicamentos , Alta do Paciente
8.
Rev. chil. infectol ; 38(6): 768-773, dic. 2021. tab, ilus
Artigo em Espanhol | LILACS | ID: biblio-1388319

RESUMO

ANTECEDENTES: El COVID-19 presenta una progresión a cuadros respiratorios graves que pueden culminar con la muerte. Al ser una pandemia, hay necesidad de herramientas de bajo costo que permitan determinar su evolución. El índice neutrófilo-linfocito (INL) es un marcador inflamatorio estudiado en diversas patologías. OBJETIVO: Estimar la asociación entre INL > 3 y mortalidad en pacientes hospitalizados con COVID 19. PACIENTES Y MÉTODOS: Se incluyeron pacientes con diagnóstico de COVID 19 que ingresaron a la sala de internación general de nuestro hospital, desde marzo hasta agosto de 2020. Los pacientes se dividieron en dos grupos: con INL 3. Se realizó un modelo de regresión logística múltiple para estimar la asociación entre el INL > 3 y mortalidad. RESULTADOS: Se incluyeron 711 pacientes con COVID-19. El modelo de regresión logística múltiple mostró asociación entre INL > 3 y mortalidad (OR 3.8; IC95% 1,05 a 13,7; p 0,04) ajustado por edad, días de internación, traslados a terapia intensiva, neumonía grave, valores de proteína-C-reactiva, hipertensión arterial, y comorbilidad neurológica, renal crónica, cardiaca y oncológica previas. COCLUSIÓN: El INL es accesible en la evaluación inicial de los pacientes que se internan con COVID-19, habiéndose asociado en nuestra serie con mortalidad.


BACKGROUND: COVID-19 rapidly progresses to acute respiratory failure and mortality. A pandemic needs an urgent requirement for low-cost and easy-access tools that assess the infection evolution. The neutrophil-lymphocyte ratio (NLR) is an inflammatory biomarker used in several diseases. AIM: To estimate the association between NLR > 3 with mortality in hospitalized patients with COVID 19. METHODS: NLR was analyzed in patients with COVID-19 seen at Hospital Fernandez between March and August 2020. Patients were grouped in those with NLR 3. Clinical characteristics and mortality were analyzed and compared between groups. A multivariable regression model was used to estimate the association between NLR > 3 and mortality. RESULTS: We included 711 patients with COVID-19. In a multivariable regression model, NLR > 3 associated with mortality (OR 3.8; 95% CI 1.05 to 13.7; p 0.04) adjusting by age, days of hospitalization, intensive care requirement, severe pneumonia, C-reactive protein levels, arterial hypertension, and comorbidities. CONCLUSION: NLR was associated with mortality, and it is an accessible and easy tool to use in the first evaluation of hospitalized patients with COVID-19.


Assuntos
Humanos , Masculino , Feminino , Adulto , COVID-19/mortalidade , Argentina/epidemiologia , Linfócitos , Estudos Retrospectivos , Contagem de Linfócitos , Neutrófilos
9.
J Infect Dis ; 224(4): 575-585, 2021 08 16.
Artigo em Inglês | MEDLINE | ID: mdl-34398243

RESUMO

Severe coronavirus disease 2019 (COVID-19) is associated with an overactive inflammatory response mediated by macrophages. Here, we analyzed the phenotype and function of neutrophils in patients with COVID-19. We found that neutrophils from patients with severe COVID-19 express high levels of CD11b and CD66b, spontaneously produce CXCL8 and CCL2, and show a strong association with platelets. Production of CXCL8 correlated with plasma concentrations of lactate dehydrogenase and D-dimer. Whole blood assays revealed that neutrophils from patients with severe COVID-19 show a clear association with immunoglobulin G (IgG) immune complexes. Moreover, we found that sera from patients with severe disease contain high levels of immune complexes and activate neutrophils through a mechanism partially dependent on FcγRII (CD32). Interestingly, when integrated in immune complexes, anti-severe acute respiratory syndrome coronavirus 2 IgG antibodies from patients with severe COVID-19 displayed a higher proinflammatory profile compared with antibodies from patients with mild disease. Our study suggests that IgG immune complexes might promote the acquisition of an inflammatory signature by neutrophils, worsening the course of COVID-19.


Assuntos
Anticorpos Antivirais/imunologia , Complexo Antígeno-Anticorpo/imunologia , COVID-19/imunologia , Imunoglobulina G/imunologia , Ativação de Neutrófilo/imunologia , Adulto , Idoso , Anticorpos Antivirais/sangue , Complexo Antígeno-Anticorpo/sangue , Antígenos CD/imunologia , Antígeno CD11b/imunologia , Moléculas de Adesão Celular/imunologia , Feminino , Proteínas Ligadas por GPI/imunologia , Humanos , Imunoglobulina G/sangue , Interleucina-8/imunologia , Masculino , Pessoa de Meia-Idade , Neutrófilos/imunologia , Receptores de IgG/imunologia , SARS-CoV-2/imunologia , Adulto Jovem
10.
Rev Chilena Infectol ; 38(6): 768-773, 2021 12.
Artigo em Espanhol | MEDLINE | ID: mdl-35506850

RESUMO

BACKGROUND: COVID-19 rapidly progresses to acute respiratory failure and mortality. A pandemic needs an urgent requirement for low-cost and easy-access tools that assess the infection evolution. The neutrophil-lymphocyte ratio (NLR) is an inflammatory biomarker used in several diseases. AIM: To estimate the association between NLR > 3 with mortality in hospitalized patients with COVID 19. METHODS: NLR was analyzed in patients with COVID-19 seen at Hospital Fernandez between March and August 2020. Patients were grouped in those with NLR < 3 and those with NLR > 3. Clinical characteristics and mortality were analyzed and compared between groups. A multivariable regression model was used to estimate the association between NLR > 3 and mortality. RESULTS: We included 711 patients with COVID-19. In a multivariable regression model, NLR > 3 associated with mortality (OR 3.8; 95% CI 1.05 to 13.7; p 0.04) adjusting by age, days of hospitalization, intensive care requirement, severe pneumonia, C-reactive protein levels, arterial hypertension, and comorbidities. CONCLUSION: NLR was associated with mortality, and it is an accessible and easy tool to use in the first evaluation of hospitalized patients with COVID-19.


Assuntos
COVID-19 , Argentina/epidemiologia , Humanos , Contagem de Linfócitos , Linfócitos , Neutrófilos , Estudos Retrospectivos
11.
Int J STD AIDS ; 31(13): 1323-1326, 2020 11.
Artigo em Inglês | MEDLINE | ID: mdl-32981425

RESUMO

We describe a patient presenting with annular-arciform symmetric lesions of the palms as the unique manifestation of secondary syphilis. The polymorphism of skin lesions in secondary syphilis depends entirely on the degree of inflammatory infiltrate, the level of vascular involvement and the resulting ischemia of the skin. Besides the transient and diffuse maculo-papules (roseola syphilitica), secondary syphilis skin lesions may have different morphology and shape. It has already been reported that in cases of reinfections by Treponema pallidum the skin lesions may be arciform, as in our patient, and asymmetric. Indeed, previous syphilis may attenuate the clinical and laboratory manifestations of a new infection with T.pallidum, that occurs with less severe skin manifestations or presents as latent syphilis. However, to our knowledge, annular-arciform lesions of the palms as unique manifestations of secondary syphilis have never been described. Clinicians should be well trained to recognize the atypical presentations of syphilis, especially in patients who have already received a syphilis diagnosis, since its incidence is steadily increasing in Europe, especially in men having sex with men.


Assuntos
Pele/microbiologia , Sífilis Cutânea/diagnóstico , Sífilis/diagnóstico , Treponema pallidum/isolamento & purificação , Humanos , Masculino , Pessoa de Meia-Idade , Pele/patologia , Sífilis Cutânea/microbiologia
13.
J Alzheimers Dis ; 70(1): 11-15, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31177233

RESUMO

Alzheimer's disease may mimic frontotemporal dementia. We describe a case of presenile dementia who presented with peudo-psychotic symptoms carrying a PSEN1 mutation (P355 S), which was not known to be pathogenic. PET-FDG showed bilateral frontotemporal hypometabolism, but at MRI, multiple microbleeds were detected, suggestive of amyloid angiopathy.


Assuntos
Doença de Alzheimer/genética , Lobo Frontal/diagnóstico por imagem , Mutação , Presenilina-1/genética , Doença de Alzheimer/diagnóstico por imagem , Atrofia/diagnóstico por imagem , Atrofia/genética , Feminino , Humanos , Imageamento por Ressonância Magnética , Pessoa de Meia-Idade
14.
Surg Technol Int ; 30: 97-101, 2017 Jul 25.
Artigo em Inglês | MEDLINE | ID: mdl-28277597

RESUMO

INTRODUCTION: Radiofrequency is a treatment option for patients suffering from fecal incontinence. OBJECTIVE: To assess the one-year follow-up results following the radiofrequency procedure for fecal incontinence. DESIGN: Prospective, single-center, observational study. MATERIALS AND METHODS: Twenty-one patients underwent the SECCA® radiofrequency procedure, 19 of who completed the one-year of follow-up (Cleveland Clinic Florida Fecal Incontinence score, Fecal Incontinence Quality of Life Scale (FIQoL), anorectal manometry, and endoanal ultrasound). MAIN OUTCOME MEASURES: Any change in the Fecal Incontinence Score or Fecal Incontinence Quality of Life scales post SECCA® radiofrequency procedure. RESULTS: The mean Fecal Incontinence Score significantly improved at three months' follow-up from 14.5 prior to treatment to 11.9 post-treatment, and was maintained at six months (12). A slight decrease was observed at one year (12.9), which had no impact on the global satisfaction. During the same period, only 1/4 subsets of the Fecal Incontinence Quality of Life score improved. Manometry and endoanal ultrasound did not show significant changes post procedure. LIMITATIONS: Limited number of patients. CONCLUSIONS: Radiofrequency is a valid treatment option for patients with mild-to-moderate fecal incontinence. This treatment has demonstrated clinically significant improvements in symptoms, as demonstrated by statistically significant reductions in the Fecal Incontinence Score as well as significant improvements in Fecal Incontinence Quality of Life scores at six months, with a slight, though not clinically significant, decrease at one year follow-up.


Assuntos
Ablação por Cateter , Incontinência Fecal , Idoso , Ablação por Cateter/efeitos adversos , Ablação por Cateter/métodos , Ablação por Cateter/estatística & dados numéricos , Incontinência Fecal/epidemiologia , Incontinência Fecal/fisiopatologia , Incontinência Fecal/cirurgia , Feminino , Seguimentos , Humanos , Pessoa de Meia-Idade , Satisfação do Paciente/estatística & dados numéricos , Estudos Prospectivos , Qualidade de Vida , Índice de Gravidade de Doença
16.
Liver Transpl ; 23(2): 257-261, 2017 02.
Artigo em Inglês | MEDLINE | ID: mdl-28006872
17.
Int J Mol Med ; 38(4): 1111-24, 2016 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-27600940

RESUMO

Hypertrophic cardiomyopathy (HCM) is mainly associated with myosin, heavy chain 7 (MYH7) and myosin binding protein C, cardiac (MYBPC3) mutations. In order to better explain the clinical and genetic heterogeneity in HCM patients, in this study, we implemented a target-next generation sequencing (NGS) assay. An Ion AmpliSeq™ Custom Panel for the enrichment of 19 genes, of which 9 of these did not encode thick/intermediate and thin myofilament (TTm) proteins and, among them, 3 responsible of HCM phenocopy, was created. Ninety-two DNA samples were analyzed by the Ion Personal Genome Machine: 73 DNA samples (training set), previously genotyped in some of the genes by Sanger sequencing, were used to optimize the NGS strategy, whereas 19 DNA samples (discovery set) allowed the evaluation of NGS performance. In the training set, we identified 72 out of 73 expected mutations and 15 additional mutations: the molecular diagnosis was achieved in one patient with a previously wild-type status and the pre-excitation syndrome was explained in another. In the discovery set, we identified 20 mutations, 5 of which were in genes encoding non-TTm proteins, increasing the diagnostic yield by approximately 20%: a single mutation in genes encoding non-TTm proteins was identified in 2 out of 3 borderline HCM patients, whereas co-occuring mutations in genes encoding TTm and galactosidase alpha (GLA) altered proteins were characterized in a male with HCM and multiorgan dysfunction. Our combined targeted NGS-Sanger sequencing-based strategy allowed the molecular diagnosis of HCM with greater efficiency than using the conventional (Sanger) sequencing alone. Mutant alleles encoding non-TTm proteins may aid in the complete understanding of the genetic and phenotypic heterogeneity of HCM: co-occuring mutations of genes encoding TTm and non-TTm proteins could explain the wide variability of the HCM phenotype, whereas mutations in genes encoding only the non-TTm proteins are identifiable in patients with a milder HCM status.


Assuntos
Cardiomiopatia Hipertrófica/genética , Cardiomiopatia Hipertrófica/patologia , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Adolescente , Adulto , Idoso , Arritmias Cardíacas/complicações , Arritmias Cardíacas/genética , Arritmias Cardíacas/patologia , Cardiomiopatia Hipertrófica/complicações , Criança , Pré-Escolar , Éxons/genética , Humanos , Pessoa de Meia-Idade , Mutação/genética , Miofibrilas/metabolismo , Fenótipo , Síndrome , Adulto Jovem
19.
J Am Podiatr Med Assoc ; 105(4): 371-3, 2015 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-26218159

RESUMO

Lipomas are the most common benign soft-tissue tumors found in the body. They tend to occur in areas of abundant adipose tissue, which explains why they are rarely found in the sole. Very few published cases of lipomas in the sole exist. When lipomas cannot be excised for histologic confirmation, ultrasonography has been shown to be a valuable assessment tool with high diagnostic capabilities. We present the case of 100-year-old patient with a long-standing plantar mass with late-stage clinical and sonographic features of a calcified lipoma.


Assuntos
Tecido Adiposo/diagnóstico por imagem , Calcinose/diagnóstico por imagem , Pé/diagnóstico por imagem , Lipoma/diagnóstico por imagem , Idoso de 80 Anos ou mais , Diagnóstico Diferencial , Feminino , Humanos , Itália , Ultrassonografia
20.
Am J Cardiol ; 114(5): 769-76, 2014 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-25037680

RESUMO

End-stage hypertrophic cardiomyopathy (ES-HC) has an ominous prognosis. Whether genotype can influence ES-HC occurrence is unresolved. We assessed the spectrum and clinical correlates of HC-associated mutations in a large multicenter cohort with end-stage ES-HC. Sequencing analysis of 8 sarcomere genes (MYH7, MYBPC3, TNNI3, TNNT2, TPM1, MYL2, MYL3, and ACTC1) and 2 metabolic genes (PRKAG2 and LAMP2) was performed in 156 ES-HC patients with left ventricular (LV) ejection fraction (EF) <50%. A comparison among mutated and negative ES-HC patients and a reference cohort of 181 HC patients with preserved LVEF was performed. Overall, 131 mutations (36 novel) were identified in 104 ES-HC patients (67%) predominantly affecting MYH7 and MYBPC3 (80%). Complex genotypes with double or triple mutations were present in 13% compared with 5% of the reference cohort (p = 0.013). The distribution of mutations was otherwise indistinguishable in the 2 groups. Among ES-HC patients, those presenting at first evaluation before the age of 20 had a 30% prevalence of complex genotypes compared with 19% and 21% in the subgroups aged 20 to 59 and ≥60 years (p = 0.003). MYBPC3 mutation carriers with ES-HC were older than patients with MYH7, other single mutations, or multiple mutations (median 41 vs 16, 26, and 28 years, p ≤0.001). Outcome of ES-HC patients was severe irrespective of genotype. In conclusion, the ES phase of HC is associated with a variable genetic substrate, not distinguishable from that of patients with HC and preserved EF, except for a higher frequency of complex genotypes with double or triple mutations of sarcomere genes.


Assuntos
Cardiomiopatia Hipertrófica Familiar/genética , DNA/genética , Mutação , Cadeias Pesadas de Miosina/genética , Sarcômeros/genética , Adulto , Idoso , Cardiomiopatia Hipertrófica Familiar/diagnóstico , Cardiomiopatia Hipertrófica Familiar/metabolismo , Proteínas de Transporte/genética , Estudos Transversais , Análise Mutacional de DNA , Ecocardiografia , Feminino , Seguimentos , Genótipo , Humanos , Imagem Cinética por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Linhagem , Prevalência , Estudos Retrospectivos , Sarcômeros/metabolismo , Índice de Gravidade de Doença
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