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1.
Eur Rev Med Pharmacol Sci ; 26(19): 7219-7228, 2022 10.
Artigo em Inglês | MEDLINE | ID: mdl-36263532

RESUMO

OBJECTIVE: Small Bowel Obstruction (SBO) is a common emergency in older patients. The most appropriate treatment strategy is still matter of debate. The aim of this study was to compare a non-operative management (NOM) vs. a surgical procedure for patients ≥ 80 years with SBO. PATIENTS AND METHODS: All patients ≥ 80 years admitted to our Emergency Department (ED) for SBO between January 1st, 2015, and December 31st, 2020 were included in this study. In order to correct for baseline covariates and factors associated to clinical management, we used a 1:1 propensity score matching (PSM) analysis. The primary outcome was to compare the overall in-hospital mortality. Secondary outcomes included occurrence of major complications and in-hospital length of stay (LOS). RESULTS: A total of 561 patients were enrolled. After propensity score matching (PSM) analysis, 302 patients (151 each group) were included in the analysis. Mortality did not differ between the two groups. After PSM mechanical ventilation, sepsis, cumulative major complications, and LOS were significantly higher in the operative treatment group [15.9% vs. 1.5%, 9.4% vs. 4.1%, 27.6% vs. 19.2%, and 9.4 (6.4-14.3) days vs. 8.1 (4.5-13.3) days, respectively; p<0.001, p=0.013, p=0.025, and p=0.003, respectively]. CONCLUSIONS: In patients ≥ 80 years with SBO, a NOM could yield similar results, in terms of overall mortality, compared to a surgical management. Thus, particularly in patients with multiple comorbidities or functional impairments, a conservative approach should always be considered.


Assuntos
Obstrução Intestinal , Humanos , Idoso , Pontuação de Propensão , Estudos Retrospectivos , Resultado do Tratamento , Obstrução Intestinal/cirurgia , Intestino Delgado , Tempo de Internação
2.
Mater Today Bio ; 10: 100109, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-33997760

RESUMO

Fistulas are abnormal connections between two body parts that can impair the quality of life. The use of biological glues represents the least invasive procedure to fill the fistula; however, it is limited by the need of multiple injections, the persistence of infection and the failure in the treatment of high-output fistulas. We describe herein the use of an injectable nanocomposite hydrogel that is able to form in situ a tissue-mimicking matrix as an innovative material for the treatment of esophageal fistulas. Injectable hydrogels that have the dual advantage of being implantable with a minimally invasive approach and of adapting their shape to the target cavity, while the introduction of mesoporous silica nanoparticles opens the possibility of drug/biomolecules delivery. The hydrogel is based on hyaluronic acid (HA), the crosslinking process occurs at physiological conditions leading to a hydrogel made of >96% by water and with a large-pore micro-architecture. The kinetic profile of the hydrogel formation is studied as a function of HA molecular weight and concentration with the aim of designing a material that is easily injectable with an endoscopic needle, is formed in a time compatible with the surgical procedure and has final mechanical properties suitable for cell proliferation. The in vivo experiments (porcine model) on esophageal-cutaneous fistulas, showed improved healing in the animals treated with the hydrogel compared with the control group.

3.
ESMO Open ; 6(1): 100010, 2021 02.
Artigo em Inglês | MEDLINE | ID: mdl-33399076

RESUMO

BACKGROUND: The implementation of multidisciplinary tumor board (MDTB) meetings significantly ameliorated the management of oncological diseases. However, few evidences are currently present on their impact on pancreatic cancer (PC) management. The aim of this study was to evaluate the impact of the MDTB on PC diagnosis, resectability and tumor response to oncological treatment compared with indications before discussion. PATIENTS AND METHODS: All patients with a suspected or proven diagnosis of PC presented at the MDTB from 2017 to 2019 were included in the study. Changes of diagnosis, resectability and tumor response to oncological/radiation treatment between pre- and post-MDTB discussion were analyzed. RESULTS: A total of 438 cases were included in the study: 249 (56.8%) were presented as new diagnoses, 148 (33.8%) for resectability assessment and 41 (9.4%) for tumor response evaluation to oncological treatment. MDTB discussion led to a change in diagnosis in 54/249 cases (21.7%), with a consequent treatment strategy variation in 36 cases (14.5%). Change in resectability was documented in 44/148 cases (29.7%), with the highest discrepancy for borderline lesions. The treatment strategy was thus modified in 27 patients (18.2%). The MDTB brought a modification in the tumor response assessment in 6/41 cases (14.6%), with a consequent protocol modification in four (9.8%) cases. CONCLUSIONS: MDTB discussion significantly impacts on PC management, especially in high-volume centers, with consistent variations in terms of diagnosis, resectability and tumor response assessment compared with indications before discussion.


Assuntos
Pancreatopatias , Neoplasias Pancreáticas , Humanos , Estudos Interdisciplinares , Neoplasias Pancreáticas/diagnóstico , Neoplasias Pancreáticas/terapia , Centros de Atenção Terciária
4.
Eur Rev Med Pharmacol Sci ; 24(22): 11919-11925, 2020 11.
Artigo em Inglês | MEDLINE | ID: mdl-33275264

RESUMO

OBJECTIVE: The pandemic from SARS-CoV-2 is having a profound impact on daily life of a large part of world population. Italy was the first Western country to impose a general lockdown to its citizens. Implications of these measures on several aspects of public health remain unknown. The aim of this study was to investigate the effects of the lockdown on surgical emergencies volumes and care in a large, tertiary referral center. MATERIALS AND METHODS: Electronic medical records of all patients visited in our Emergency Department (ED) and admitted in a surgical ward from February 21st 2020 to May 3rd 2020 were collected, analyzed and compared with the same periods of 2019 and 2018 and a cross-sectional study was performed. RESULTS: Number of surgical admissions dropped significantly in 2020 with respect to the same periods of 2019 and 2018, by almost 50%. The percentage distribution of admissions in different surgical wards did not change over the three years. Time from triage to operating room significantly reduced in 2020 respect to 2019 and 2018 (p<0.001). CONCLUSIONS: The lockdown in Italy due to SARS-CoV-2 pandemic arguably represents the largest social experiment in modern times. Data provided by our study provide useful information to health authorities and policymakers about the effects of activity restriction on surgical accesses and changing epidemiology due to an exceptional external event.


Assuntos
COVID-19 , Colecistite Aguda/epidemiologia , Gastroenteropatias/epidemiologia , Hospitalização/tendências , Procedimentos Cirúrgicos Operatórios/tendências , Adulto , Apendicite/epidemiologia , Apendicite/cirurgia , Colecistite Aguda/cirurgia , Diverticulite/epidemiologia , Diverticulite/cirurgia , Emergências , Serviço Hospitalar de Emergência , Feminino , Gastroenteropatias/cirurgia , Hemorragia Gastrointestinal/epidemiologia , Hemorragia Gastrointestinal/cirurgia , Hérnia/epidemiologia , Herniorrafia/tendências , Humanos , Obstrução Intestinal/epidemiologia , Obstrução Intestinal/cirurgia , Perfuração Intestinal/epidemiologia , Perfuração Intestinal/cirurgia , Itália/epidemiologia , Masculino , Pessoa de Meia-Idade , Doenças Retais/epidemiologia , Doenças Retais/cirurgia , Centro Cirúrgico Hospitalar , Centros de Atenção Terciária , Tempo para o Tratamento/tendências
5.
Eur Rev Med Pharmacol Sci ; 24(2): 813-820, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-32016986

RESUMO

OBJECTIVE: Acute pancreatitis (AP) may present an aspecific clinical picture without abdominal symptoms (atypical AP). We compared clinical outcomes between typical and atypical AP. PATIENTS AND METHODS: Thirty out of 1163 patients (2.6%) presented an atypical AP. Demographic, clinical data, laboratory and radiological findings, management type, length of hospital stay (LOS) and mortality rate were retrospectively reviewed. A case match analysis 2:1 was performed. The final groups comprised 50 typical APs (TAP group) and 25 atypical APs (AAP group). RESULTS: The AAP patients presented fever (36%), syncope (32%) and dyspnea (16%) as the most frequent symptoms. Laboratory values showed similarity between the two groups. We noted a comparable edematous AP rate in both groups (p=0.36). Ten (20%) TAP and 3 (12%) AAP patients needed ERCP, respectively (p=0.38). Cholecystectomy was similarly performed in both cohorts (p=0.81). One TAP patient underwent a percutaneous drainage and subsequent surgical necrosectomy compared to none in the AAP cohort (p=0.47). LOS and mortality rate were comparable (p=0.76 and 0.3, respectively). CONCLUSIONS: Similar outcomes have been reached in the two groups. Routine evaluation of the serum amylase values fundamentally contributed to early diagnosis and appropriate treatment.


Assuntos
Pancreatite/sangue , Pancreatite/diagnóstico , Adulto , Idoso , Diagnóstico Diferencial , Drenagem/tendências , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Pancreatite/terapia , Estudos Retrospectivos , Resultado do Tratamento
7.
Eur Rev Med Pharmacol Sci ; 23(17): 7383-7390, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31539125

RESUMO

OBJECTIVE: The aim of this study was to investigate the impact of the preoperative American Society of Anesthesiologists-Physical status (ASA-PS) on both the short-term and long-term outcomes in patients with Gastric Cancer (GC). PATIENTS AND METHODS: In a retrospective observational study, a total of 473 GC patients were divided into the following 3 groups: ASA 1, ASA 2, and ASA 3-4. RESULTS: The ASA 3-4 group included significantly older patients compared to the other groups (p<0.0001). In ASA 1 patients, there was a higher number of lymph nodes dissected (p=0.006), and more patients received adjuvant treatment (p<0.001). In the three groups, no difference regarding the postoperative surgical and medical complications (p=0.29 and p=0.1, respectively) nor in terms of mortality rate (p=0.17) were demonstrated. The multivariate analysis showed that age, tumor stage, number of lymph nodes dissected, positive lymph nodes, adjuvant treatments, and postoperative surgical complications were significant predictive factors for mortality. Five-year overall and disease-free survival for ASA 1, ASA 2, and ASA 3-4 groups was 56%, 57.6%, and 44%, respectively; and 37%, 44.3%, and 39.2%, respectively. CONCLUSIONS: Preoperative ASA-PS alone cannot serve as a direct operative risk indicator for GC patients.


Assuntos
Complicações Pós-Operatórias/epidemiologia , Neoplasias Gástricas/classificação , Neoplasias Gástricas/cirurgia , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Tempo de Internação , Excisão de Linfonodo , Masculino , Pessoa de Meia-Idade , Análise Multivariada , Estadiamento de Neoplasias , Complicações Pós-Operatórias/mortalidade , Período Pré-Operatório , Estudos Retrospectivos , Neoplasias Gástricas/patologia , Análise de Sobrevida
8.
Eur Rev Med Pharmacol Sci ; 23(6): 2532-2538, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30964180

RESUMO

OBJECTIVE: Colonoscopy is recognized as the primary screening test for colorectal cancer. However, its inaccuracy in identifying the exact tumor localization is still high. As a consequence, repeated colonoscopies and changes in the surgical management have been reported. This study aims to evaluate the quality of 216 colonoscopies, to define colonoscopy accuracy and to investigate the surgical sequelae of an incorrect localization. PATIENTS AND METHODS: A retrospective analysis of 216 colonoscopies has been conducted. Colonoscopy quality was assessed on: quality of bowel preparation, completeness of the examination, video and/or photographic documentation, and reported the distance of the lesion from the anal verge. Colonoscopy accuracy was evaluated in terms of correspondence between the endoscopic and intra-operative tumor localization. RESULTS: Bowel preparation adequateness was reported in 121 out of 216 (56%) colonoscopies, with an adequate grade in 68.6% of cases. A complete colonoscopy was accomplished in 86.9% of cases with photo documentation in only 59 colonoscopies (27.3%). The lesion distance from the anal verge was documented only in 93 out of 216 colonoscopies. Of the 157 lesions described at the colonoscopy, 117 matched with the intra-operative localization (accuracy 74.5%). Fifteen of the 40 incorrectly localized lesions (37.5%) required changes in the surgical management. At multivariate analysis, the colonoscopy completeness was the only influencing factor on the concordance between endoscopic and intra-operative localization. CONCLUSIONS: Colonoscopy demonstrated adequate accuracy in localizing lesions. However, the incorrect tumor localization leads to a high rate of changes in surgical management. Increase in.


Assuntos
Colonoscopia/métodos , Neoplasias Colorretais/diagnóstico , Neoplasias Colorretais/secundário , Adulto , Idoso , Idoso de 80 Anos ou mais , Colonoscopia/normas , Neoplasias Colorretais/patologia , Confiabilidade dos Dados , Detecção Precoce de Câncer , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Intensificação de Imagem Radiográfica/normas , Estudos Retrospectivos
9.
Clin Exp Immunol ; 195(3): 322-333, 2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-30472725

RESUMO

Behçet's syndrome (BS) is a complex disease with different organ involvement. The vascular one is the most intriguing, considering the existence of a specific group of patients suffering from recurrent vascular events involving the venous and, more rarely, the arterial vessels. Several clinical clues suggest the inflammatory nature of thrombosis in BS, especially of the venous involvement, thus BS is considered a model of inflammation-induced thrombosis. Unique among other inflammatory conditions, venous involvement (together with the arterial one) is currently treated with immunosuppressants, rather than with anti-coagulants. Although many in-vitro studies have suggested the different roles of the multiple players involved in clot formation, in-vivo models are crucial to study this process in a physiological context. At present, no clear mechanisms describing the pathophysiology of thrombo-inflammation in BS exist. Recently, we focused our attention on BS patients as a human in-vivo model of inflammation-induced thrombosis to investigate a new mechanism of clot formation. Indeed, fibrinogen displays a critical role not only in inflammatory processes, but also in clot formation, both in the fibrin network and in platelet aggregation. Reactive oxygen species (ROS)-derived modifications represent the main post-translational fibrinogen alterations responsible for structural and functional changes. Recent data have revealed that neutrophils (pivotal in the pathogenetic mechanisms leading to BS damage) promote fibrinogen oxidation and thrombus formation in BS. Altogether, these new findings may help understand the pathogenetic bases of inflammation-induced thrombosis and, more importantly, may suggest potential targets for innovative therapeutic approaches.


Assuntos
Síndrome de Behçet/complicações , Inflamação/complicações , Trombose/etiologia , Fibrinogênio/fisiologia , Humanos , Imunossupressores/uso terapêutico , Espécies Reativas de Oxigênio/metabolismo , Trombose/tratamento farmacológico
10.
Clin Genet ; 93(6): 1234-1239, 2018 06.
Artigo em Inglês | MEDLINE | ID: mdl-29457652

RESUMO

Congenital myopathies (CMs) caused by mutation in cofilin-2 gene (CFL2) show phenotypic heterogeneity ranging from early-onset and rapid progressive forms to milder myopathy. Muscle histology is also heterogeneous showing rods and/or myofibrillar changes. Here, we report on three new cases, from two unrelated families, of severe CM related to novel homozygous or compound heterozygous loss-of-function mutations in CFL2. Peculiar histopathological changes showed nemaline bodies and thin filaments accumulations together to myofibrillar changes, which were evocative of the muscle findings observed in Cfl2-/- knockout mouse model.


Assuntos
Cofilina 2/genética , Doenças Musculares/patologia , Adolescente , Sequência de Aminoácidos , Animais , Criança , Pré-Escolar , Cofilina 2/química , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Camundongos , Músculo Esquelético/patologia , Adulto Jovem
11.
Eur Rev Med Pharmacol Sci ; 22(3): 796-801, 2018 02.
Artigo em Inglês | MEDLINE | ID: mdl-29461612

RESUMO

OBJECTIVE: Integration of different therapeutic strategies in cancer surgery in the last years has led from treating primary lesions to the surgical treatment of metastases. The purpose of this paper is to report a single Italian center experience of treatment of peritoneal carcinosis of the abdominopelvic malignancies. PATIENTS AND METHODS: 103 HIPEC procedures were performed in 17 years on 94 selected patients affected by abdominopelvic cancer. The PCI score was calculated at laparotomy. The CC score was calculated before doing HIPEC. HIPEC was carried out according to the Coliseum technique. RESULTS: The surgical cytoreduction allowed 89 patients to be subjected to HIPEC treatment with a CC score 0; 9 patients with a CC 1; 3 patients with a CC 2 and 2 patients with a CC 3. In 22 patients postoperative complications were recorded. No operative mortality occurred. The median follow-up of 53 months shows a rate of survival equivalent to 49 %, with a relapse in 46 patients, 29 of them reached exitus. CONCLUSIONS: The surgical resection alone for patients affected by advanced cancer with peritoneal carcinomatosis cannot be considered a sufficient treatment any longer and HIPEC would help to prolong survival in these patients.


Assuntos
Procedimentos Cirúrgicos de Citorredução/métodos , Hipertermia Induzida/métodos , Cuidados Intraoperatórios/métodos , Neoplasias Peritoneais/diagnóstico por imagem , Neoplasias Peritoneais/terapia , Adulto , Idoso , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Terapia Combinada/métodos , Terapia Combinada/mortalidade , Terapia Combinada/tendências , Procedimentos Cirúrgicos de Citorredução/mortalidade , Procedimentos Cirúrgicos de Citorredução/tendências , Feminino , Humanos , Hipertermia Induzida/mortalidade , Hipertermia Induzida/tendências , Cuidados Intraoperatórios/tendências , Itália/epidemiologia , Laparotomia/métodos , Laparotomia/mortalidade , Laparotomia/tendências , Masculino , Pessoa de Meia-Idade , Neoplasias Peritoneais/mortalidade , Taxa de Sobrevida/tendências , Resultado do Tratamento
13.
Hernia ; 22(6): 909-919, 2018 12.
Artigo em Inglês | MEDLINE | ID: mdl-29177588

RESUMO

PURPOSE: Giant paraesophageal hernias (GPEH) are relatively uncommon and account for less than 5% of all primary hiatal hernias. Giant Secondary GPEH can be observed after surgery involving hiatal orifice opening, such as esophagectomy, antireflux surgery, and hiatal hernia repair. Surgical treatment is challenging, and there are still residual controversies regarding the laparoscopic approach, even though a reduced morbidity and mortality, as well as a shorter hospital stay have been demonstrated. METHODS: A Pubmed electronic search of the literature including articles published between 1992 and 2016 was conducted using the following key words: hiatal hernia, paraesophageal hernias, mesh, laparoscopy, intrathoracic stomach, gastric volvulus, diaphragmatic hernia. RESULTS: Given the risks of non-operative management, GPEH surgical repair is indicated in symptomatic patients. Technical steps for primary hernia repair include hernia reduction and sac excision, correct repositioning of the gastroesophageal junction, crural repair, and fundoplication. For secondary hernias, the surgical technique varies according to hernia type and components and according to the approach used during the first surgery. There is an ongoing debate regarding the best and safest method to close the hiatal orifice. The laparoscopic approach has demonstrated a lower postoperative morbidity and mortality, and a shorter hospital stay as compared to the open approach. A high recurrence rate has been reported for primary GPEH repair. However, recent studies suggest that recurrence does not reduce symptomatic outcomes. CONCLUSIONS: The laparoscopic treatment of primary and secondary GPEH is safe and feasible in elective and emergency settings, especially in high-volume centers. The procedure is still challenging. The main steps are well defined. However, there is still room for improvement to lower the recurrence rate.


Assuntos
Hérnia Hiatal/cirurgia , Herniorrafia/métodos , Laparoscopia/métodos , Bioprótese , Procedimentos Cirúrgicos Eletivos , Esofagectomia/efeitos adversos , Junção Esofagogástrica/cirurgia , Fundoplicatura/efeitos adversos , Gastropexia , Hérnia Hiatal/diagnóstico , Hérnia Hiatal/etiologia , Humanos , Cuidados Pré-Operatórios , Recidiva , Reoperação , Procedimentos Cirúrgicos Robóticos , Telas Cirúrgicas
14.
J Thromb Haemost ; 14(11): 2287-2297, 2016 11.
Artigo em Inglês | MEDLINE | ID: mdl-27557753

RESUMO

Essentials Retinal vein occlusion (RVO), characterized by blood hyperviscosity, has an unclear pathogenesis. We aimed to find out if hemorheological profile is altered by oxidative stress in RVO patients. Red blood cell (RBC) oxidative stress is associated to whole blood viscosity and RBC deformability. Reactive oxygen species alter RBC membrane rigidity, playing a key role in RVO pathogenesis. SUMMARY: Background Retinal vein occlusion (RVO) is characterized by vision loss resulting from hypoperfusion and hypoxia of the retina. RVO pathogenesis is not yet fully understood, although blood hyperviscosity has been observed. Erythrocyte deformability plays a key role in determining blood viscosity, and it is critical to microvascular perfusion and oxygen delivery. It has been shown that oxidative stress-induced erythrocyte membrane fluidity alterations are linked to the progression of cardiovascular diseases. Objectives To determine whether erythrocytes from RVO patients show signs of oxidative stress, and whether this condition can modify the hemorheologic profile in these patients. Patients and Methods We analyzed the entire hemorheologic profile and erythrocyte oxidative stress - reactive oxygen species (ROS) production and membrane lipid peroxidation - in 128 RVO patients and 128 healthy subjects, matched for age and sex. Fluorescence anisotropy was used to evaluate the fluidity of erythrocyte membranes. Results In RVO patients, erythrocyte oxidative stress was present and positively correlated with whole blood viscosity and erythrocyte deformability. Multivariate linear regression analysis after adjustment for age, cardiovascular risk factors, medications, leukocyte number and mean corpuscular volume indicated that erythrocyte-derived ROS and erythrocyte lipid peroxidation were significantly and positively correlated with erythrocyte membrane viscosity and deformability. Moreover, in vitro experiments demonstrated that ROS have a key role in erythrocyte membrane fluidity. Conclusions Our findings indicate that erythrocyte oxidative stress plays a key role in the pathogenesis of RVO, and pave the way to new therapeutic interventions.


Assuntos
Deformação Eritrocítica , Eritrócitos/citologia , Estresse Oxidativo , Oclusão da Veia Retiniana/patologia , Anisotropia , Viscosidade Sanguínea , Estudos de Casos e Controles , Membrana Eritrocítica/metabolismo , Feminino , Hemorreologia , Humanos , Peroxidação de Lipídeos , Masculino , Análise Multivariada , Espécies Reativas de Oxigênio/metabolismo , Fatores de Risco , Estresse Mecânico , Viscosidade
15.
J Biol Regul Homeost Agents ; 30(2 Suppl 3): 129-31, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27498670

RESUMO

Psoriasis is an inflammatory skin disease that affects 2-5% of the worldwide population. It is a chronic immune-mediated hyperproliferative inflammatory skin disease of unknown etiology, characterized by the appearance of sore patches of thick, red skin with silvery scales.


Assuntos
Fibroblastos/efeitos dos fármacos , Fibroblastos/metabolismo , Óleos de Plantas/química , Óleos de Plantas/farmacologia , Psoríase/metabolismo , Psoríase/patologia , Humanos , Oxirredução/efeitos dos fármacos , Pele/citologia , Pele/patologia
16.
Clin Genet ; 90(2): 182-5, 2016 08.
Artigo em Inglês | MEDLINE | ID: mdl-27406698

RESUMO

We have performed whole-exome sequencing in a family trio with a 16-year-old girl suffering of progressive motor neuron disease. There was no family history of the disease and no parental consanguinity. Our exome analysis indicated the proband as a compound heterozygote for two missense variants in the TECPR2 gene according to a recessive mode of inheritance. The TECPR2 gene has been reported as a positive regulator of autophagy which is an essential mechanism for maintaining neuron homeostasis and survival and plays a key role in major adult and pediatric neurodegenerative diseases. Variants in this gene have been found responsible for a recently described form of hereditary spastic paraplegia called SPG49 in two previous reports. We propose that both variants causing amino acid substitution, p.Leu684Val and p.Thr903Met, inherited in trans-phase compound heterozygote form, can be responsible for the phenotype observed in our patient. We also consider the possible contribution of a heterozygous variant in the SPG7 gene. Sanger sequencing confirmed the segregation of variants within the family tree including the patient's unaffected brother.


Assuntos
Proteínas de Transporte/genética , Exoma , Metaloendopeptidases/genética , Doença dos Neurônios Motores/genética , Mutação de Sentido Incorreto , Proteínas do Tecido Nervoso/genética , Neurônios/metabolismo , ATPases Associadas a Diversas Atividades Celulares , Adolescente , Substituição de Aminoácidos , Sequência de Bases , Progressão da Doença , Feminino , Expressão Gênica , Genes Recessivos , Heterozigoto , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Masculino , Pessoa de Meia-Idade , Doença dos Neurônios Motores/patologia , Neurônios/patologia , Linhagem , Fenótipo
17.
Orphanet J Rare Dis ; 11(1): 91, 2016 07 07.
Artigo em Inglês | MEDLINE | ID: mdl-27387980

RESUMO

BACKGROUND: Myosin heavy chain 7 (MYH7)-related myopathies are emerging as an important group of muscle diseases of childhood and adulthood, with variable clinical and histopathological expression depending on the type and location of the mutation. Mutations in the head and neck domains are a well-established cause of hypertrophic cardiomyopathy whereas mutation in the distal regions have been associated with a range of skeletal myopathies with or without cardiac involvement, including Laing distal myopathy and Myosin storage myopathy. Recently the spectrum of clinical phenotypes associated with mutations in MYH7 has increased, blurring this scheme and adding further phenotypes to the list. A broader disease spectrum could lead to misdiagnosis of different congenital myopathies, neurogenic atrophy and other neuromuscular conditions. RESULTS: As a result of a multicenter Italian study we collected clinical, histopathological and imaging data from a population of 21 cases from 15 families, carrying reported or novel mutations in MYH7. Patients displayed a variable phenotype including atypical pictures, as dropped head and bent spine, which cannot be classified in previously described groups. Half of the patients showed congenital or early infantile weakness with predominant distal weakness. Conversely, patients with later onset present prevalent proximal weakness. Seven patients were also affected by cardiomyopathy mostly in the form of non-compacted left ventricle. Muscle biopsy was consistent with minicores myopathy in numerous cases. Muscle MRI was meaningful in delineating a shared pattern of selective involvement of tibialis anterior muscles, with relative sparing of quadriceps. CONCLUSION: This work adds to the genotype-phenotype correlation of MYH7-relatedmyopathies confirming the complexity of the disorder.


Assuntos
Miosinas Cardíacas/metabolismo , Doenças Musculares/diagnóstico , Cadeias Pesadas de Miosina/metabolismo , Adolescente , Adulto , Idoso , Miosinas Cardíacas/genética , Criança , Pré-Escolar , Feminino , Genótipo , Humanos , Lactente , Recém-Nascido , Extremidade Inferior/patologia , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Músculo Esquelético/metabolismo , Músculo Esquelético/patologia , Doenças Musculares/patologia , Mutação/genética , Cadeias Pesadas de Miosina/genética , Linhagem , Fenótipo , Adulto Jovem
19.
Transplant Proc ; 47(7): 2102-5, 2015 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-26361653

RESUMO

The increasing gap between the number of patients who could benefit from liver transplantation and the number of available donors has fueled efforts to maximize the donor pool using marginal grafts that usually were discarded for transplantation. This study included data of all patients who received decreased donor liver grafts between January 2004 and January 2013 (n = 218) with the use of a prospectively collected database. Patients with acute liver failure, retransplantation, pediatric transplantation, and split liver transplantation were excluded. Donors were classified as standard donor (SD), extended criteria donor (ECD), and overextended criteria donor (OECD). The primary endpoints of the study were early allograft primary dysfunction (PDF), primary nonfunction (PNF), and patient survival (PS), whereas incidence of major postoperative complications was the secondary endpoint. In our series we demonstrated that OECD have similar outcome in terms of survival and incidence of complication after liver transplantation as ideal grafts.


Assuntos
Seleção do Doador/métodos , Transplante de Fígado/métodos , Doadores de Tecidos/provisão & distribuição , Adolescente , Adulto , Idoso , Aloenxertos/estatística & dados numéricos , Bases de Dados Factuais , Seleção do Doador/estatística & dados numéricos , Feminino , Humanos , Incidência , Itália , Transplante de Fígado/mortalidade , Masculino , Pessoa de Meia-Idade , Complicações Pós-Operatórias/epidemiologia , Estudos Prospectivos , Adulto Jovem
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