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1.
Obes Surg ; 34(7): 2399-2410, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38862752

RESUMO

PURPOSE: There is a lack of evidence for treatment of some conditions including complication management, suboptimal initial weight loss, recurrent weight gain, or worsening of a significant obesity complication after one anastomosis gastric bypass (OAGB). This study was designed to respond to the existing lack of agreement and to provide a valuable resource for clinicians by employing an expert-modified Delphi consensus method. METHODS: Forty-eight recognized bariatric surgeons from 28 countries participated in the modified Delphi consensus to vote on 64 statements in two rounds. An agreement/disagreement among ≥ 70.0% of the experts was regarded to indicate a consensus. RESULTS: A consensus was achieved for 46 statements. For recurrent weight gain or worsening of a significant obesity complication after OAGB, more than 85% of experts reached a consensus that elongation of the biliopancreatic limb (BPL) is an acceptable option and the total bowel length measurement is mandatory during BPL elongation to preserve at least 300-400 cm of common channel limb length to avoid nutritional deficiencies. Also, more than 85% of experts reached a consensus on conversion to Roux-en-Y gastric bypass (RYGB) with or without pouch downsizing as an acceptable option for the treatment of persistent bile reflux after OAGB and recommend detecting and repairing any size of hiatal hernia during conversion to RYGB. CONCLUSION: While the experts reached a consensus on several aspects regarding revision/conversion surgeries after OAGB, there are still lingering areas of disagreement. This highlights the importance of conducting further studies in the future to address these unresolved issues.


Assuntos
Consenso , Técnica Delphi , Derivação Gástrica , Obesidade Mórbida , Reoperação , Humanos , Derivação Gástrica/efeitos adversos , Obesidade Mórbida/cirurgia , Redução de Peso , Feminino , Complicações Pós-Operatórias/etiologia , Masculino , Aumento de Peso
2.
JAMA Dermatol ; 160(5): 544-549, 2024 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-38506824

RESUMO

Importance: Kindler epidermolysis bullosa is a genetic skin-blistering disease associated with recessive inherited pathogenic variants in FERMT1, which encodes kindlin-1. Severe orofacial manifestations of Kindler epidermolysis bullosa, including early oral squamous cell carcinoma, have been reported. Objective: To determine whether hypoplastic pitted amelogenesis imperfecta is a feature of Kindler epidermolysis bullosa. Design, Settings, and Participants: This longitudinal, 2-center cohort study was performed from 2003 to 2023 at the Epidermolysis Bullosa Centre, University of Freiburg, Germany, and the Special Care Dentistry Clinic, University of Chile in association with DEBRA Chile. Participants included a convenience sampling of all patients with a diagnosis of Kindler epidermolysis bullosa. Main Outcomes and Measures: The primary outcomes were the presence of hypoplastic pitted amelogenesis imperfecta, intraoral wounds, gingivitis and periodontal disease, gingival hyperplasia, vestibular obliteration, cheilitis, angular cheilitis, chronic lip wounds, microstomia, and oral squamous cell carcinoma. Results: The cohort consisted of 36 patients (15 female [42%] and 21 male [58%]; mean age at first examination, 23 years [range, 2 weeks to 70 years]) with Kindler epidermolysis bullosa. The follow-up ranged from 1 to 24 years. The enamel structure was assessed in 11 patients, all of whom presented with enamel structure abnormalities. The severity of hypoplastic pitted amelogenesis imperfecta varied from generalized to localized pitting. Additional orofacial features observed include gingivitis and periodontal disease, which was present in 90% (27 of 30 patients) of those assessed, followed by intraoral lesions (16 of 22 patients [73%]), angular cheilitis (24 of 33 patients [73%]), cheilitis (22 of 34 patients [65%]), gingival overgrowth (17 of 26 patients [65%]), microstomia (14 of 25 patients [56%]), and vestibular obliteration (8 of 16 patients [50%]). Other features included chronic lip ulcers (2 patients) and oral squamous cell carcinoma with lethal outcome (2 patients). Conclusions and Relevance: These findings suggest that hypoplastic pitted amelogenesis imperfecta is a feature of Kindler epidermolysis bullosa and underscore the extent and severity of oral manifestations in Kindler epidermolysis bullosa and the need for early and sustained dental care.


Assuntos
Epidermólise Bolhosa , Humanos , Masculino , Feminino , Adulto , Adulto Jovem , Pré-Escolar , Adolescente , Criança , Epidermólise Bolhosa/complicações , Pessoa de Meia-Idade , Estudos Longitudinais , Doenças Periodontais/complicações , Doenças Periodontais/epidemiologia , Carcinoma de Células Escamosas/patologia , Amelogênese Imperfeita/complicações , Amelogênese Imperfeita/genética , Amelogênese Imperfeita/patologia , Estudos de Coortes , Neoplasias Bucais/patologia , Neoplasias Bucais/complicações , Gengivite/patologia , Gengivite/etiologia , Queilite , Chile
3.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-38311006

RESUMO

BACKGROUND: Real-world studies about the effectiveness and safety of vedolizumab (VDZ) in the treatment of inflammatory bowel disease (IBD) in Latin America are scarce. Our study describes the effectiveness and safety of VDZ in Colombian patients with IBD. METHODS: EXVEDOCOL (EXperience of VEDOlizumab in COLombia) was a retrospective, multicenter, observational study. Adults with IBD receiving a first dose of VDZ between July 2016 and October 2018 were included. The co-primary outcomes clinical response, and remission, were determined at week 14 and last visit during the maintenance phase (LVMP). The secondary outcomes, deep remission and loss of response were recorded at LVMP. RESULTS: Thirty-one patients (25 ulcerative colitis (UC), 6 Crohn's disease (CD)) were included. At week 14, clinical response was achieved by 87.1% (27/31) of the patients treated with VDZ, while loss of response was reported in 6.7% (2/30). The remission rate at week 14 was 65.5% (19/29) and 75.9% (22/29) at LVMP. Prior anti-TNF exposure was reported in 61.3% (19 patients) of whom 84.2% (16/19) achieved clinical response at week 14 and 89.5% (17/19) at LVMP. For anti-TNF naïve patients, clinical response was recorded in 91.7% (11/12) at week 14 and 100% (12/12) at LVMP. CONCLUSIONS: High clinical remission rates and safety profile highlight VDZ as a valuable treatment option for IBD patients. Anti-TNF naïve patients may derive greater benefit from therapy. Studies with larger cohorts could confirm these findings.

4.
Gastroenterol. hepatol. (Ed. impr.) ; 47(1): 51-62, ene. 2024. tab
Artigo em Inglês | IBECS | ID: ibc-229085

RESUMO

Objective Data on anti-tumor necrosis factor (anti-TNF) treatment and suboptimal response (SOR) among patients with inflammatory bowel diseases (IBD) in Latin America (LATAM) are scarce. This study evaluated the incidence and indicators of SOR to anti-TNF therapy in patients with ulcerative colitis (UC) and Crohn's disease (CD) from Argentina, Colombia and Mexico. Patients and methods We performed retrospective analysis of data from LATAM patients of the EXPLORE study (NCT03090139) including adult patients with IBD who initiated anti-TNF therapy between March 2010 to March 2015. The cumulative incidence of SOR to first-line anti-TNF therapy was assessed. A physician survey to assess barriers to anti-TNF therapies was also carried out. Results We included 185 IBD patients (UC/CD: 99/86) treated with first-line anti-TNF from Argentina (38 UC; 40 CD), Colombia (21 UC; 25 CD) and Mexico (40 UC; 21 CD). 36.4% of patients with UC and 46.5% of patients with CD experienced SOR to anti-TNF therapy during the median (interquartile range) observational period: 49.0 months (37.2–60.1) in UC, and 50.0 months (40.9–60.1) in CD. The most common indicator of SOR among patients was augmentation of non-biologic therapy (UC: 41.7%; CD: 35.0%). Affordability and late referral to IBD specialist care centers were the most common barriers to anti-TNF therapies. Conclusions SOR to anti-TNF therapy was common in LATAM IBD patients, where augmentation with non-biologic therapy represented the most frequent indicator of SOR across indications. Our findings contribute to the current evidence on the unmet needs associated with anti-TNF in LATAM (AU)


Objetivo Los datos sobre tratamiento con antagonistas del factor de necrosis tumoral (anti-TNF) y su respuesta subóptima (RSO) en las enfermedades inflamatorias intestinales (EII) en América Latina (LATAM) son escasos. Se evaluaron la incidencia e indicadores de RSO a anti-TNF en pacientes con colitis ulcerosa (CU) y enfermedad de Crohn (EC) de Argentina, Colombia y México. Pacientes y métodos Se realizó un análisis retrospectivo de datos del estudio EXPLORE LATAM (NCT03090139), incluyendo pacientes adultos con EII que iniciaron anti-TNF entre marzo de 2010 a marzo de 2015. Se evaluó la incidencia acumulada de RSO a los anti-TNF en primera línea. Además, se realizó una encuesta a especialistas sobre las barreras del tratamiento con anti-TNF. Resultados Se incluyeron 185 pacientes con EII (CU/EC: 99/86) tratados con anti-TNF en primera línea de Argentina (38 CU; 40 EC), Colombia (21 CU; 25 EC) y México (40 CU; 21 EC); 36,4% de los pacientes con CU y 46,5% de los pacientes con EC experimentaron RSO a anti-TNF durante la mediana (intervalo intercuartílico) de 49 meses (37,2-60,1) en CU y 50 meses (40,9-60,1) en EC. El indicador más común de RSO fue el aumento del tratamiento no biológico (CU: 41,7%; EC: 35,0%). La accesibilidad y la derivación tardía a centros especializados fueron las barreras más comunes para el tratamiento con anti-TNF. Conclusiones La RSO a anti-TNF fue frecuente en pacientes con EII de LATAM, el aumento del tratamiento no biológico representó el indicador más frecuente de RSO. Nuestros hallazgos contribuyen a la evidencia actual sobre las necesidades insatisfechas asociadas a los anti-TNF en LATAM (AU)


Assuntos
Humanos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Doenças Inflamatórias Intestinais/tratamento farmacológico , Colite Ulcerativa/tratamento farmacológico , Doença de Crohn/tratamento farmacológico , /administração & dosagem , Estudos Retrospectivos , América Latina
5.
Gastroenterol Hepatol ; 47(1): 51-62, 2024 Jan.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-37062500

RESUMO

OBJECTIVE: Data on anti-tumor necrosis factor (anti-TNF) treatment and suboptimal response (SOR) among patients with inflammatory bowel diseases (IBD) in Latin America (LATAM) are scarce. This study evaluated the incidence and indicators of SOR to anti-TNF therapy in patients with ulcerative colitis (UC) and Crohn's disease (CD) from Argentina, Colombia and Mexico. PATIENTS AND METHODS: We performed retrospective analysis of data from LATAM patients of the EXPLORE study (NCT03090139) including adult patients with IBD who initiated anti-TNF therapy between March 2010 to March 2015. The cumulative incidence of SOR to first-line anti-TNF therapy was assessed. A physician survey to assess barriers to anti-TNF therapies was also carried out. RESULTS: We included 185 IBD patients (UC/CD: 99/86) treated with first-line anti-TNF from Argentina (38 UC; 40 CD), Colombia (21 UC; 25 CD) and Mexico (40 UC; 21 CD). 36.4% of patients with UC and 46.5% of patients with CD experienced SOR to anti-TNF therapy during the median (interquartile range) observational period: 49.0 months (37.2-60.1) in UC, and 50.0 months (40.9-60.1) in CD. The most common indicator of SOR among patients was augmentation of non-biologic therapy (UC: 41.7%; CD: 35.0%). Affordability and late referral to IBD specialist care centers were the most common barriers to anti-TNF therapies. CONCLUSIONS: SOR to anti-TNF therapy was common in LATAM IBD patients, where augmentation with non-biologic therapy represented the most frequent indicator of SOR across indications. Our findings contribute to the current evidence on the unmet needs associated with anti-TNF in LATAM.


Assuntos
Colite Ulcerativa , Doença de Crohn , Doenças Inflamatórias Intestinais , Adulto , Humanos , Colite Ulcerativa/complicações , Doença de Crohn/complicações , Doenças Inflamatórias Intestinais/tratamento farmacológico , Doenças Inflamatórias Intestinais/complicações , América Latina , Estudos Retrospectivos , Inibidores do Fator de Necrose Tumoral/uso terapêutico , Fator de Necrose Tumoral alfa
6.
Polymers (Basel) ; 15(6)2023 Mar 21.
Artigo em Inglês | MEDLINE | ID: mdl-36987330

RESUMO

The Bacillus amyloliquefaciens RT7 strain was isolated from an extreme acidic environment and identified. The biodegradation capabilities of the strain using different carbon sources (glucose, oleic acid, Tween 80, PEG 200, and the combination of glucose-Tween 80) were evaluated via an indirect impedance technique. The glucose-Tween 80 combination was further studied using nuclear magnetic resonance (NMR). The exopolysaccharide (EPSRT7) that had been produced with the strain when biodegrading glucose-Tween 80 was isolated and characterised using different techniques (GC-MS, HPLC/MSMS, ATR-FTIR, TGA, and DSC), and its molecular weight was estimated. The results show that the average molecular weight of EPSRT7 was approximately 7.0794 × 104 Da and a heteropolysaccharide composed of mannose, glucose, galactose, and xylose (molar ratio, 1:0.5:0.1:0.1) with good thermostability. EPSRT7 showed good emulsifying activity against different natural oils and hydrocarbons at high concentrations (2 mg/mL) and at the studied pH range (3.1-7.2). It also presented good emulsifying activity compared to that of commercial emulsifiers. Lastly, EPSRT7 showed antioxidant capacity for different free radicals, a lack of cytotoxicity, and antioxidant activity at the cellular level. EPSRT7 has promising applications in bioremediation processes and other industrial applications.

8.
Cureus ; 15(1): e33805, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36660239

RESUMO

Background Personality disorders are a multi-theoretical construct that encompasses predictable and quantifiable behavioral, cognitive, and affective characteristics in individuals. Previous studies underscore the existence of a relationship between personality disorders and defense mechanisms, these being coping styles that arise unconsciously in the face of adversity and that have adaptive purposes. There is evidence that alludes to a connection between pathological personality, defense mechanisms, and their relationship with negative mental health outcomes, such as depressive and anxious symptoms. The objective of this study was to study, psychometrically measure, and associate personality disorders, defense mechanisms, and depressive and anxious symptoms. Methodology A cross-sectional study was conducted on 81 participants with major depressive disorder, generalized anxiety disorder, and panic disorder who received treatment at a tertiary care institution between July 2021 and February 2022. Psychometric instruments were employed to evaluate the study variables, such as the Beck Depression Inventory (BDI), the Hamilton Depression Rating Scale (HAM-D), the Hamilton Anxiety Rating Scale (HAM-A), the Personality Diagnostic Questionnaire - Version 4 (PDQ-4) Plus, and the 40-item Defensive Styles Questionnaire (DSQ-40). Results Depressive and anxious symptoms were related to the scores obtained in the Defensive Styles Questionnaire and the Personality Disorders Questionnaire. Some defense mechanisms were positive predictors of the score between these scales. Conclusions There is a relationship between personality traits and defense mechanisms that could influence the development and severity of depressive and anxious psychopathology in this population.

9.
Hepatología ; 4(3): 200-206, 2023. tab, tab
Artigo em Espanhol | LILACS, COLNAL | ID: biblio-1451998

RESUMO

La hipertensión portal es una de las principales complicaciones de la cirrosis. El papel de la derivación portosistémica transyugular intrahepática (TIPS, por sus siglas en inglés), ha ganado aceptación como tratamiento efectivo en la hipertensión portal. En los últimos años su técnica se ha ido perfeccionando, disminuyendo la morbimortalidad relacionada con este procedimiento. Describimos un caso de un paciente masculino con cirrosis Child-Pugh 8 y MELD 16, con antecedente de descompensación por sangrado variceal recurrente y trombosis parcial de la vena porta, con un gradiente de presión venosa hepática (GPVH) de 20 mmHg, por lo que es llevado a TIPS como profilaxis secundaria, con un gradiente final post-TIPS de 6 mmHg. Posterior al procedimiento, presentó evolución tórpida con deterioro de las pruebas de bioquímica hepática. Se realizó una angiografía demostrando permeabilidad del TIPS sin progresión de la trombosis portal, y hallazgos anormales inespecíficos de la arteria hepática. Se decidió realizar una arteriografía selectiva, demostrando un pseudoaneurisma de la rama derecha de la arteria hepática y una fístula arteriovenosa de la arteria hepática a las colaterales portales. Se realizó embolización selectiva de la fístula con evolución satisfactoria del paciente.


Portal hypertension is a life-threatening complication of cirrhosis. The role of transyugular intrahepatic portosystemic shunt (TIPS) has gained acceptance as an effective treatment for portal hypertension. In the past few years, its technique has been improved, decreasing the mortality related with the procedure. We describe a case of a male with Child-Pugh 8 and MELD 16 cirrhosis, with previous decompensation of recurrent variceal bleeding and partial thrombosis of the portal vein. TIPS was performed due to a hepatic venous pressure gradient (HVPG) of 20 mmHg. The final measure showed HVPG of 6 mmHg. After the procedure, he presented a torpid evolution with deterioration of liver function tests. An angiography was performed demonstrating patency of the TIPS without progression of portal thrombosis and nonspecific abnormal findings of the hepatic artery. Selective arteriography was performed and revealed a pseudoaneurysm of the right branch of the hepatic artery and an arteriovenous fistula (AVF) from the hepatic artery to portal collaterals. Embolization was performed to treat the fistula with satisfactory evolution of the patient.


Assuntos
Humanos
11.
Polymers (Basel) ; 14(18)2022 Sep 19.
Artigo em Inglês | MEDLINE | ID: mdl-36146061

RESUMO

The Bacillus xiamenensis RT6 strain was isolated and identified by morphological, biochemical and molecular tests from an extreme acidic environment, Rio Tinto (Huelva). Optimisation tests for exopolysaccharide (EPS) production in different culture media determined that the best medium was a minimal medium with glucose as the only carbon source. The exopolymer (EPSt) produced by the strain was isolated and characterised using different techniques (GC-MS, HPLC/MSMS, ATR-FTIR, TGA, DSC). The molecular weight of EPSt was estimated. The results showed that the average molecular weight of EPSt was approximately 2.71 × 104 Da and was made up of a heteropolysaccharide composed of glucose (60%), mannose (20%) and galactose (20%). The EPSt showed antioxidant capabilities that significantly improved cell viability. Metal chelation determined that EPSt could reduce the concentration of transition metals such as iron at the highest concentrations tested. Finally, the emulsification study showed that EPSt was able to emulsify different natural polysaccharide oils, reaching up to an 80% efficiency (olive and sesame oil), and was a good candidate for the substitution of the most polluting emulsifiers. The EPSt was found to be suitable for pharmaceutical and industrial applications.

12.
Obes Surg ; 32(8): 2512-2524, 2022 08.
Artigo em Inglês | MEDLINE | ID: mdl-35704259

RESUMO

PURPOSE: One anastomosis/mini gastric bypass (OAGB/MGB) is up to date the third most performed obesity and metabolic procedure worldwide, which recently has been endorsed by ASMBS. The main criticisms are the risk of bile reflux, esophageal cancer, and malnutrition. Although IFSO has recognized this procedure, guidance is needed regarding selection criteria. To give clinicians a daily support in performing the right patient selection in OAGB/MGB, the aim of this paper is to generate clinical guidelines based on an expert modified Delphi consensus. METHODS: A committee of 57 recognized bariatric surgeons from 24 countries created 69 statements. Modified Delphi consensus voting was performed in two rounds. An agreement/disagreement among ≥ 70.0% of the experts was considered to indicate a consensus. RESULTS: Consensus was achieved for 56 statements. Remarkably, ≥ 90.0% of the experts felt that OAGB/MGB is an acceptable and suitable option "in patients with Body mass index (BMI) > 70, BMI > 60, BMI > 50 kg/m2 as a one-stage procedure," "as the second stage of a two-stage bariatric surgery after Sleeve Gastrectomy for BMI > 50 kg/m2 (instead of BPD/DS)," and "in patients with weight regain after restrictive procedures. No consensus was reached on the statement that OAGB/MGB is a suitable option in case of resistant Helicobacter pylori. This is likely as there is a concern that this procedure is associated with reflux and its related long-term complications including risk of cancer in the esophagus or stomach. Also no consensus reached on OAGB/MGB as conversional surgery in patients with GERD after restrictive procedures. Consensus for disagreement was predominantly achieved "in case of intestinal metaplasia of the stomach" (74.55%), "in patients with severe Gastro Esophageal Reflux Disease (GERD)(C,D)" (75.44%), "in patients with Barrett's metaplasia" (89.29%), and "in documented insulinoma" (89.47%). CONCLUSION: Patient selection in OAGB/MGB is still a point of discussion among experts. There was consensus that OAGB/MGB is a suitable option in elderly patients, patients with low BMI (30-35 kg/m2) with associated metabolic problems, and patients with BMIs more than 50 kg/m2 as one-stage procedure. OAGB/MGB can also be a safe procedure in vegetarian and vegan patients. Although OAGB/MGB can be a suitable procedure in patients with large hiatal hernia with concurrent hiatal hernia, it should not be offered to patients with grade C or D esophagitis or Barrett's metaplasia.


Assuntos
Derivação Gástrica , Refluxo Gastroesofágico , Hérnia Hiatal , Obesidade Mórbida , Idoso , Técnica Delphi , Derivação Gástrica/métodos , Refluxo Gastroesofágico/cirurgia , Humanos , Metaplasia , Obesidade Mórbida/cirurgia , Seleção de Pacientes , Estudos Retrospectivos
13.
Sleep Sci ; 15(Spec 2): 355-360, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35371411

RESUMO

Introduction: Insomnia is the most common of sleep disorders, it induces a wide variety of organic symptoms, including somatic and cognitive impairments. There are pharmacological drugs nowadays that help diminish sleep impairments due to insomnia. However, most of them seem to be worsening cognitive impairments, benzodiazepine receptor agonists, in particular, seem to induce an even worst deterioration of cognitive function. On the other hand, cognitive behavioral therapy for insomnia (CBT-I) has shown to be a reliable tool to improve the whole picture of insomnia. Objectives: To analyze the effect of CBT-I on insomnia symptoms and cognitive performance in patients suffering from chronic insomnia. Material and Methods: Ten subjects with a diagnosis of insomnia and no pharmacological treatment were evaluated pre- and post-six biweekly sessions of CBT-I with two neuropsychological batteries, BANFE and NEUROPSI attention and memory. Results: CBT-I significantly improves both the symptoms of insomnia, measured subjectively with a sleep diary and the Athens insomnia scale, and the cognitive performance measured with the neuropsychological batteries. Discussion: CBT-I is not only an effective tool for the treatment of insomnia but also helps to ameliorate cognitive performance.

14.
Artigo em Inglês | MEDLINE | ID: mdl-34534011

RESUMO

Introduction: Roux-en-Y gastric bypass (RYGB) remains among the most widely performed bariatric procedures. A significant decline in its indication has been observed due to weight regain and reappearance of comorbidities. Moreover, the lack of effective therapeutic alternatives after failure justifies why other techniques are more frequently chosen. We present a novel technique to convert a failed RYGB into a one anastomosis gastric bypass (OAGB). Case Presentation: A 43-year-old male patient with a body mass index (BMI) of 47 kg/m2 and several comorbidities was submitted to RYGB. Initially his surgery was successful, but after 7 years he visited the bariatric and metabolic surgery clinic with reappearance of all comorbidities, and the same BMI as before having bariatric surgery. After proper evaluation and preparation, conversion to OAGB was decided. After anatomy identification, the alimentary limb was transected 20 cm distal to the gastrojejunal anastomosis, and a new anastomosis with the common channel (CC) was created, to form a new long afferent biliopancreatic limb and a new short efferent CC. Results: The surgical procedure and postoperative course were uneventful. One year after the procedure the patient's BMI was 36 kg/m2. He has been able to stop all medications and therapies related to previous comorbidities. To date, the patient has good dietary and supplementation adherence resulting in no nutritional deficiencies, or gastrointestinal symptoms. Conclusion: This new surgical technique is safe and feasible. Short-term results have shown reasonable weight loss (WL), and especially remission of comorbidities with an improved quality of life.

15.
Genet Med ; 23(4): 787-792, 2021 04.
Artigo em Inglês | MEDLINE | ID: mdl-33288880

RESUMO

PURPOSE: Variants in genes encoding sarcomeric proteins are the most common cause of inherited cardiomyopathies. However, the underlying genetic cause remains unknown in many cases. We used exome sequencing to reveal the genetic etiology in patients with recessive familial cardiomyopathy. METHODS: Exome sequencing was carried out in three consanguineous families. Functional assessment of the variants was performed. RESULTS: Affected individuals presented with hypertrophic or dilated cardiomyopathy of variable severity from infantile- to early adulthood-onset and sudden cardiac death. We identified a homozygous missense substitution (c.170C>A, p.[Ala57Asp]), a homozygous translation stop codon variant (c.106G>T, p.[Glu36Ter]), and a presumable homozygous essential splice acceptor variant (c.482-1G>A, predicted to result in skipping of exon 5). Morpholino knockdown of the MYL3 orthologue in zebrafish, cmlc1, resulted in compromised cardiac function, which could not be rescued by reintroduction of MYL3 carrying either the nonsense c.106G>T or the missense c.170C>A variants. Minigene assay of the c.482-1G>A variant indicated a splicing defect likely resulting in disruption of the EF-hand Ca2+ binding domains. CONCLUSIONS: Our data demonstrate that homozygous MYL3 loss-of-function variants can cause of recessive cardiomyopathy and occurrence of sudden cardiac death, most likely due to impaired or loss of myosin essential light chain function.


Assuntos
Cardiomiopatias , Cardiomiopatia Dilatada , Cadeias Leves de Miosina/genética , Animais , Cardiomiopatias/genética , Cardiomiopatia Dilatada/genética , Consanguinidade , Morte Súbita Cardíaca/etiologia , Humanos , Linhagem , Peixe-Zebra/genética
16.
Dig Liver Dis ; 52(8): 869-877, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-32563721

RESUMO

BACKGROUND: Incidence of inflammatory bowel disease (IBD) is increasing in newly industrialised countries (NICs); however, data on suboptimal response to anti-tumor necrosis factor (anti-TNF) agents are limited. OBJECTIVES: To assess incidence and indicators of suboptimal response to first anti-TNF therapy in IBD patients in NICs. METHODS: A chart review was conducted in ten countries from Asia-Pacific (APAC), Latin America (LatAm), and Russia and the Middle East (RME) regions among patients diagnosed with ulcerative colitis (UC) or Crohn's disease (CD), initiating anti-TNF therapy in 2010-2015. The cumulative incidence of suboptimal response to anti-TNF therapy was assessed using the following indicators: dose escalation or discontinuation, augmentation with non-biologic therapy, IBD-related hospitalization, or surgery. RESULTS: The study included 1,674 patients (570 UC; 1,104 CD). At 24 months, 32.9% of UC (APAC: 45.1%; LatAm: 38.2%; RME: 23.8%) and 41.2% of CD patients (APAC: 54.1%; LatAm: 42.5%; RME: 29.5%) had experienced suboptimal response. The most frequent first indicator was non-biologic therapy augmentation in LatAm (41.7%), IBD-related hospitalization in RME (UC: 50.7%; CD:37.3%) and in APAC for CD (39.1%), and anti-TNF discontinuation in APAC for UC (38.3%). CONCLUSION: Suboptimal response to anti-TNF agents is common in IBD patients in NICs. Observed regional differences in the incidence and indicators may reflect local practice and anti-TNF restrictions in IBD management. NCT REGISTRATION NUMBER: NCT03090139.


Assuntos
Doenças Inflamatórias Intestinais/tratamento farmacológico , Inibidores do Fator de Necrose Tumoral/uso terapêutico , Adulto , Países em Desenvolvimento , Feminino , Humanos , Incidência , Doenças Inflamatórias Intestinais/epidemiologia , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Resultado do Tratamento
17.
Am J Surg ; 219(5): 795-799, 2020 05.
Artigo em Inglês | MEDLINE | ID: mdl-32145918

RESUMO

INTRODUCTION: Neuroendocrine tumors (NETs) metastatic to the ovary are traditionally considered rare, but data are lacking. This study seeks to better characterize the prevalence and outcomes of patients with neuroendocrine ovarian metastases (NOM). METHODS: Women with well-differentiated lung and gastroenteropancreatic NETs 2007-2017 were identified by medical record query. Clinicopathologic data were reviewed among patients with and without NOM. RESULTS: Of 242 patients, 27 (11.2%) developed NOM. NOM developed in 24.8% of SBNET patients and 65.7% of patients with carcinomatosis and intact ovaries. 33.3% had associated small bowel obstructions; 11.1% had ureteral obstruction. NOM were not apparent on imaging in 29.6% nor visible intraoperatively in 8.3%. Five-year survival rate was 61.5%. Those who underwent oophorectomy had a lower rate of subsequent ureteral obstruction (p < 0.01). CONCLUSIONS: NOM are more prevalent than previously reported and associated with significant morbidity. Empiric oophorectomy may be considered for SBNET patients and strongly advised in carcinomatosis.


Assuntos
Carcinoma/secundário , Neoplasias Intestinais/patologia , Neoplasias Pulmonares/patologia , Tumores Neuroendócrinos/secundário , Neoplasias Ovarianas/secundário , Neoplasias Pancreáticas/patologia , Neoplasias Gástricas/patologia , Feminino , Humanos , Obstrução Intestinal/patologia , Intestino Delgado , Pessoa de Meia-Idade , Tumores Neuroendócrinos/patologia , Tumores Neuroendócrinos/cirurgia , Neoplasias Ovarianas/cirurgia , Ovariectomia , Obstrução Ureteral/patologia
20.
World J Surg ; 44(3): 855-862, 2020 03.
Artigo em Inglês | MEDLINE | ID: mdl-31641833

RESUMO

BACKGROUND: Ideal jejunal and ileal lengths in bariatric/metabolic procedures to be left in alimentary continuity still remain unclear. We aimed to evaluate different lengths of biliopancreatic limb (BPL) and common limb (CL) performed in a series of patients submitted to OAGB, and correlate them with weight loss and nutritional deficits. PATIENTS AND METHODS: A prospective observational study of 350 consecutive morbidly obese patients undergoing OAGB was performed. BPL and CL lengths were determined intraoperatively; BPL/TBL and CL/TBL ratios were then calculated. Anthropometric variables, remission of comorbidities and specific supplementation needs were recorded at 1, 2 and 5 years after surgery. RESULTS: Three hundred patients were included for final analysis. BPL length and BPL/TBL ratio directly correlated with Units of BMI lost (UBMIL). Conversely, CL length and CL/TBL ratio showed an inverse correlation with UBMIL. Establishing a BMI ≤ 25 kg/m2 as ideal, the most accurate AUC, to predict achieving an ideal BMI at 1, 2 and 5 years after surgery, was obtained for the CL/TBL ratio, followed by the CL length at 1, 2 and 5 years. An ideal range was established between 0.40 and 0.43 for the CL/TBL ratio, and 200 to 220 cm for the CL length. Among these ranges, there were no cases of protein or calorie malnutrition. CONCLUSION: TBL measurement is essential to obtain optimal outcomes after OAGB, both in terms of excellent weight loss and remission/improvement of comorbidities, as well as with a low risk of nutritional deficiencies. The CL/TBL ratio, followed by CL length, are the most accurate parameters to predict a 5-year postoperative BMI ≤ 25 kg/m2.


Assuntos
Anastomose Cirúrgica/métodos , Derivação Gástrica/métodos , Desnutrição/epidemiologia , Obesidade Mórbida/cirurgia , Redução de Peso , Adulto , Comorbidade , Feminino , Humanos , Intestino Delgado/cirurgia , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos
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