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1.
Obes Surg ; 2024 Aug 08.
Artigo em Inglês | MEDLINE | ID: mdl-39117857

RESUMO

PURPOSE: Rising obesity and type 2 diabetes mellitus (T2DM) rates can be mitigated by various strategies, with a 10% total body weight loss (TBWL) threshold often required for T2DM remission. T2DM remission rates after bariatric surgery like Roux-en-Y gastric bypass (RYGB) are well established; endoscopic sleeve gastroplasty (ESG) is a less invasive option that averages 15% TBWL and allows for T2DM remission. This study explores the DiaRem (Diabetes Remission post-RYGB) score's ability to predict T2DM remission 1-year post-ESG. MATERIALS AND METHODS: We conducted a retrospective cohort study on 39 individuals with T2DM who underwent ESG. Age, utilization of diabetes medications, insulin administration, and hemoglobin A1c levels were used to calculate the DiaRem score. The area under the receiver operating characteristic curve (AUC) was employed to evaluate the discriminative ability of DiaRem in distinguishing diabetes remission. RESULTS: Among the 39 patients with a median hemoglobin A1c of 6.7, 12.8% required insulin, and 43.6% used diabetes medication. At 1-year post-ESG, 69.2% of patients experienced diabetes remission with a median %TWBL of 12.7. The DiaRem score's ability to detect diabetes resolution for ESG patients had a sensitivity of 100% and a specificity of 58.3%, at the optimal cutoff value of 10. The AUC was 0.779 (95% CI 0.546-0.959). CONCLUSION: Our study demonstrated the DiaRem score's predictive value for T2DM remission post-ESG, highlighting its utility in clinical decision-making for ESG-related outcomes. Further investigation is needed to identify alternative indicators that may enhance predictive accuracy, thus refining personalized decision-making for this patient group.

2.
Obes Surg ; 34(8): 3137-3139, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-38965187

RESUMO

Obesity is a complex disease process, which often requires multifactorial, patient-tailored strategies for effective management. Treatment options include lifestyle optimization, pharmacotherapy, endobariatrics, and bariatric metabolic endoscopy. Obesity-based interventions can be challenging in patient populations with severe obesity, particularly post-gastric bypass. We report the case of a non-surgical patient with a failed remote open gastric bypass, who underwent an endoscopic small bowel diversion procedure, resulting in partial caloric diversion, via the creation of an EUS-guided jejunocolostomy (EUS-JC). The procedure is an extension of prior reported EUS-guided and magnet-based small bowel bypass procedures, in this case, for the purposes of weight loss (Kahaleh et al., 1; Jonica et al. Gastrointest Endosc. 97(5):927-933, 2; Machytka et al. Gastrointest Endosc. 86(5):904-912, 3;). The procedure was performed without peri-procedural complications, with effective weight loss during follow-up. Endoscopic bariatric interventions that target the small bowel, such as EUS-JC, offer promising tools for obesity management and should be studied further. Numerous factors including lifestyle, psychosocial, genetic, behavioral, and secondary disease processes contribute to obesity. Severe obesity (defined as a BMI > 50 kg/m2) is associated with increased morbidity and mortality with a significantly reduced response to treatment (Flegal et al. JAMA. 309(1):71-82, 4;). Weight regain can be noted in up to 50% of patients post-RYGB. In populations with severe obesity, there is an associated 5-year surgical failure rate of 18% (Magro et al. Obesity Surg. 18(6):648-51, 5;). These patients may not be surgical candidates for revision or can develop post-revision chronic protein-caloric malnutrition (Shin et al. Obes Surg. 29(3):811-818, 6;). Lifestyle, modification, pharmacotherapy, or endoscopic transoral reduction (TORe) can be effective generally; however, in patients with severe obesity, the total desired excess body weight loss may not likely be accomplished solely by these strategies. An endoscopic small bowel intervention that diverts a portion of caloric intake from small bowel absorption can potentially promote weight loss similar to a surgical lengthening of the Roux limb (Shah et al. Obes Surg. 33(1):293-302, 7; Hamed et al. Annal Surg. 274(2):271-280, 8;), in the sense that there is a reduction in the total small bowel surface area for absorption. Roux limb distalization can be effective for weight regain for post bypass patients. The EUS-JC technique aims to work similarly by reducing the total small bowel surface area utilized for absorption. Since this patient was deemed a non-surgical candidate, an EUS-guided jejunocolostomy was offered. Prior to the procedure, the patient established longitudinal care with our bariatric nutritionist and obesity medicine services. Extensive pre-bariatric labs were screened to rule out confounders for recurrent severe obesity. Intra-procedure, the patient received one dose of 500 mg intravenous levofloxacin. Post-procedure, loperamide was prescribed every 8 h as needed for post-procedure diarrhea. Within 2 weeks, the patient was no longer taking anti-diarrheals. The post-procedure diet consisted of a liquid diet for 2 days before advancement to a low-residue diet for 1 month, and then a regular diet.


Assuntos
Derivação Gástrica , Obesidade Mórbida , Redução de Peso , Humanos , Obesidade Mórbida/cirurgia , Feminino , Resultado do Tratamento , Endossonografia , Jejunostomia/métodos , Adulto , Pessoa de Meia-Idade , Reoperação
3.
Surg Endosc ; 38(8): 4186-4197, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-38987483

RESUMO

BACKGROUND AND AIMS: Biliary drainage is vital in managing malignant biliary obstruction (MBO). Suprapapillary stenting has emerged as a viable alternative to transpapillary stenting and is performed using inside plastic (iPS) or metal stents (iMS). This meta-analysis aims to evaluate the outcomes of suprapapillary stent placement for MBO. METHODS: The Embase, PubMed, and Web of Science databases were systematically searched to include all studies published before September 31, 2023, that reported on the outcomes of suprapapillary stents placed for MBO. Using the random-effect model, the pooled, weight-adjusted event rate estimate for the clinical outcomes was calculated with 95% confidence intervals (CIs). RESULTS: Twenty-eight studies were included, with a total of 1401 patients. The pooled clinical success rate was 98.9%. A subgroup analysis yielded non-significant differences between the iPS and iMS groups (99.3% vs. 98.6%, respectively; P = 0.44). The pooled incidence rate of adverse events (AE) with suprapapillary stents was 9.5%. In a subgroup analysis, the incidence of AEs with iPS was 10.7% compared to 9% in the iMS group without a statistical difference (P = 0.32). The most common adverse event was cholangitis (2.2%), followed by pancreatitis (1.1%), cholecystitis (0.5%), and bleeding (0.12%). CONCLUSION: When technically feasible, suprapapillary stenting for MBO is a viable endoscopic option with a high clinical success rate and acceptable adverse event rates. Both iPS and iMS exhibit similar efficacy.


Assuntos
Colestase , Plásticos , Stents , Humanos , Colestase/cirurgia , Colestase/etiologia , Stents/efeitos adversos , Metais , Neoplasias dos Ductos Biliares/complicações , Neoplasias dos Ductos Biliares/cirurgia , Drenagem/métodos , Drenagem/instrumentação , Resultado do Tratamento
4.
Ann Gastroenterol ; 37(4): 427-435, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38974084

RESUMO

Background: Inflammatory bowel disease (IBD) epidemiology has changed rapidly in recent years. We aimed to provide a systematic report of the burden of IBD at a state level in the United States (US), and to study the age- and sex-specific trends of incidence, prevalence and mortality rates for the past 3 decades. Methods: Using the Global Burden of Disease (GBD) 2019 Study Database, we examined the incidence, prevalence and mortality rate, and the disability-adjusted life-years from GBD 2019 at national and state level from 1990-2019. Results: There was an overall decrease in incidence and prevalence rates of IBD in the US from 1990-2019, while a simultaneous increase in the overall mortality rates was identified. However, a distinct trend of increasing incidence and prevalence rates emerged starting in 2000, with incidence rates rising from 21 cases per 100,000 persons in 2000 to 23 cases per 100,000 persons in 2019. From 1990-2019, incidence and prevalence decreased in males at a higher rate than in females. However, mortality rates increased more in females than males. Incidence rates were highest in Midwestern and Eastern states, and were lowest across the northern Great Plains and Western states, with the highest incidence noted in Michigan (31 cases per 100,000 persons). California had the greatest decrease in incidence rates from 1990-2019 (-63.3%). Conclusion: Our results concerning recent trends and geographic variations in IBD offer policymakers crucial insights for informed decision-making in policy, research, and investment, facilitating more effective strategies and allocation of resources.

5.
J Clin Med ; 13(13)2024 Jul 04.
Artigo em Inglês | MEDLINE | ID: mdl-38999498

RESUMO

Background and Aims: Endoscopic sleeve gastroplasty (ESG) is a minimally invasive bariatric procedure to induce weight loss through restrictive physiology. This study was designed to evaluate the fluoroscopic measurement of gastric dimensions after ESG as a predictor of Total Body Weight Loss (TBWL) over time. Methods: Post-ESG patients were enrolled prospectively between August 2013 and August 2019. An upper gastrointestinal (GI) fluoroscopy was obtained within 7 days after the procedure. Two blinded, independent radiologists reviewed fluoroscopic images and measured the gastric lumen transverse diameter in three separate areas of the fundus, body, and antrum. The primary outcome was achieving a TBWL of ten percent or more after ESG. Results: In total, 162 patients were included in the analysis (65% female) and had a mean body mass index (BMI) of 39 ± 6 at baseline. Patients had a mean maximum TBWL of 16.5 ± 8.3%. Respectively, 92%, 75%, and 50% of patients achieved a TBWL of 5%, 10%, or 15% or more. The mean post-procedural UGI gastric fundus/antrum transverse measurement ratio was 1.2 ± 0.6. A higher fundus-to-antrum ratio was significantly associated with a TBWL of 10% or more during follow-up in the multivariable model (OR 2.49, 95% CI 1.31-4.71; p-value 0.005). The prediction score based on the fundus-to-antrum ratio hd an area under the ROC curve of 0.79 (95% CI 0.75-0.83) for predicting a TBWL of 10% or more during follow-up. Conclusions: Measuring gastric the fundus/antrum ratio within one week of endoscopic sleeve gastroplasty (ESG) is a consistent and independent predictive measure of sustained TBWL during long-term follow-up.

7.
Am J Kidney Dis ; 83(2): 183-195, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37717846

RESUMO

RATIONALE & OBJECTIVE: Genetic etiologies have been identified among approximately 10% of adults with chronic kidney disease (CKD). However, data are lacking regarding the prevalence of monogenic etiologies especially among members of minority groups. This study characterized the genetic markers among members of an Israeli minority group with end-stage kidney disease (ESKD). STUDY DESIGN: A national-multicenter cross-sectional study of Israeli Druze patients (an Arabic-speaking Near-Eastern transnational population isolate) who are receiving maintenance dialysis for ESKD. All study participants underwent exome sequencing. SETTING & PARTICIPANTS: We recruited 94 adults with ESKD, comprising 97% of the total 97 Druze individuals throughout Israel being treated with dialysis during the study period. PREDICTORS: Demographics and clinical characteristics of kidney disease. OUTCOME: Genetic markers. ANALYTICAL APPROACH: Whole-exome sequencing and the relationship of markers to clinical phenotypes. RESULTS: We identified genetic etiologies in 17 of 94 participants (18%). None had a previous molecular diagnosis. A novel, population-specific, WDR19 homozygous pathogenic variant (p.Cys293Tyr) was the most common genetic finding. Other monogenic etiologies included PKD1, PKD2, type IV collagen mutations, and monogenic forms of noncommunicable diseases. The pre-exome clinical diagnosis corresponded to the final molecular diagnosis in fewer than half of the participants. LIMITATIONS: This study was limited to Druze individuals, so its generalizability may be limited. CONCLUSIONS: Exome sequencing identified a genetic diagnosis in approximately 18% of Druze individuals with ESKD. These results support conducting genetic analyses in minority populations with high rates of CKD and for whom phenotypic disease specificity may be low. PLAIN-LANGUAGE SUMMARY: Chronic kidney disease (CKD) affects many people worldwide and has multiple genetic causes. However, there is limited information on the prevalence of genetic etiologies, especially among minority populations. Our national-multicenter study focused on Israeli Druze patients. Using exome-sequencing, we identified previously undetected genetic causes in nearly 20% of patients, including a new and population-specific WDR19 homozygous pathogenic variant. This mutation has not been previously described; it is extremely rare globally but is common among the Druze, which highlights the importance of studying minority populations with high rates of CKD. Our findings provide insights into the genetic basis of end-stage kidney disease in the Israeli Druze, expand the WDR19 phenotypic spectrum, and emphasize the potential value of genetic testing in such populations.


Assuntos
Falência Renal Crônica , Insuficiência Renal Crônica , Adulto , Humanos , Grupos Minoritários , Israel/epidemiologia , Marcadores Genéticos , Estudos Transversais , Falência Renal Crônica/epidemiologia , Falência Renal Crônica/genética , Falência Renal Crônica/terapia , Insuficiência Renal Crônica/epidemiologia , Insuficiência Renal Crônica/genética , Insuficiência Renal Crônica/diagnóstico , Minorias Desiguais em Saúde e Populações Vulneráveis
10.
Int J Cardiol Cardiovasc Risk Prev ; 19: 200224, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37964864

RESUMO

Background: Social vulnerability index (SVI) plays a pivotal role in the outcomes of cardiovascular diseases and prevalence of alcohol use. We evaluated the impact of the SVI on alcoholic cardiomyopathy (ACM) mortality. Methods: Mortality data from 1999 to 2020 and the SVI were obtained from CDC databases. Demographics such as age, sex, race/ethnicity, and geographic residence were obtained from death certificates. The SVI was divided into quartiles, with the fourth quartile (Q4) representing the highest vulnerability. Age-adjusted mortality rates across SVI quartiles were compared, and excess deaths due to higher SVI were calculated. Risk ratios were calculated using univariable Poisson regression. Results: A total of 2779 deaths were seen in Q4 compared to 1672 deaths in Q1. Higher SVI accounted for 1107 excess-deaths in the US and 0.05 excess deaths per 100,000 person-years (RR: 1.38). Similar trends were seen for both male (RR: 1.43) and female (RR: 1.67) populations. Higher SVI accounted for 0.06 excess deaths per 100,000 person-years in Hispanic populations (RR: 2.50) and 0.06 excess deaths per 100,000 person-years in non-Hispanic populations (RR: 1.46). Conclusion: Counties with elevated SVI experienced higher ACM mortality rates. Recognizing the impact of SVI on ACM mortality can guide targeted interventions and public health strategies, emphasizing health equity and minimizing disparities.

11.
VideoGIE ; 8(11): 462-463, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-38026715

RESUMO

Video 1Case presentation of EUS-guided Braun-type enteroenterostomy for the management of an afferent limb-type obstruction in a patient with prior surgical gastrojejunostomy.

13.
Food Funct ; 14(20): 9050-9082, 2023 Oct 16.
Artigo em Inglês | MEDLINE | ID: mdl-37740352

RESUMO

The study of all chemical processes involving metabolites is known as metabolomics. It has been developed into an essential tool in several disciplines, such as the study of plant physiology, drug development, human diseases, and nutrition. The field of food science, diagnostic biomarker research, etiological analysis in the field of medical therapy, and raw material quality, processing, and safety have all benefited from the use of metabolomics recently. Food metabolomics includes the use of metabolomics in food production, processing, and human diets. As a result of changing consumer habits and the rising of food industries all over the world, there is a remarkable increase in interest in food quality and safety. It requires the employment of various technologies for the food supply chain, processing of food, and even plant breeding. This can be achieved by understanding the metabolome of food, including its biochemistry and composition. Additionally, Food metabolomics can be used to determine the similarities and differences across crop kinds, as an indicator for tracking the process of ripening to increase crops' shelf life and attractiveness, and identifying metabolites linked to pathways responsible for postharvest disorders. Moreover, nutritional metabolomics is used to investigate the connection between diet and human health through detection of certain biomarkers. This review assessed and compiled literature on food metabolomics research with an emphasis on metabolite extraction, detection, and data processing as well as its applications to the study of food nutrition, food-based illness, and phytochemical analysis. Several studies have been published on the applications of metabolomics in food but further research concerning the use of standard reproducible procedures must be done. The results published showed promising uses in the food industry in many areas such as food production, processing, and human diets. Finally, metabolome-wide association studies (MWASs) could also be a useful predictor to detect the connection between certain diseases and low molecular weight biomarkers.

14.
Gastrointest Endosc ; 98(6): 944-949, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37473967

RESUMO

BACKGROUND AND AIMS: A subset of patients experience weight recidivism after primary endoscopic sleeve gastroplasty (P-ESG). Available options for management of weight regain include initiation of antiobesity medications (AOMs) or redo ESG (R-ESG). The comparative effectiveness of these options is not clear. METHODS: This was a retrospective analysis of a prospectively maintained database of patients undergoing ESG. From 2013 to 2021, 79 patients who were started on AOM or underwent R-ESG for management of weight recidivism after P-ESG were included. The primary outcome of this study was final total body weight loss (TBWL) at the end of follow-up. RESULTS: Fifty-five patients were started on AOM and 24 patients underwent R-ESG. Age, gender distribution, and baseline body mass index did not differ significantly between groups. The proportion of noncompliant patients (defined as patients who missed their first post-ESG follow-up visit) was significantly higher in the AOM group compared with the R-ESG group (67% vs 35%, P = .012). The additional TBWL after R-ESG was significantly (both clinically and statistically) better than after initiation of AOM (9.5% ± 7.2% vs 2.1% ± 8.6%, respectively; P = .001). Final TBWL clearly favored R-ESG over AOM for treatment of weight recidivism (19.9% ± 10.4% vs 13.6% ± 9.2%, P = .028). CONCLUSIONS: R-ESG is an effective treatment to induce weight loss after experiencing weight recidivism. These results highlight an important advantage of ESG as a repeatable minimally invasive procedure.


Assuntos
Gastroplastia , Obesidade Mórbida , Humanos , Gastroplastia/métodos , Obesidade/cirurgia , Estudos Retrospectivos , Endoscopia/métodos , Resultado do Tratamento , Obesidade Mórbida/cirurgia
15.
Artigo em Inglês | MEDLINE | ID: mdl-34815247

RESUMO

Microvillus inclusion disease (MVID) is a rare autosomal recessive condition characterized by a lack of microvilli on the surface of enterocytes, resulting in severe, life-threatening diarrhea that could lead to mortality within the first year of life. We identify two unrelated families, each with one child presenting with severe MVID from birth. Using trio whole-exome sequencing, we observed that the two families share a novel nonsense variant (Glu1589*) in the MYO5B gene, a type Vb myosin motor protein in which rare damaging mutations were previously described to cause MVID. This founder mutation was very rare in public databases and is likely specific to patients of Syrian ancestry. We present a detailed account of both patients' clinical histories to fully characterize the effect of this variant and expand the genotype-phenotype databases for MVID patients from the Middle East.


Assuntos
Infecções por Citomegalovirus , Miosina Tipo V , Infecções por Citomegalovirus/metabolismo , Humanos , Síndromes de Malabsorção , Microvilosidades/genética , Microvilosidades/metabolismo , Microvilosidades/patologia , Mucolipidoses , Mutação , Cadeias Pesadas de Miosina/genética , Miosina Tipo V/genética , Miosina Tipo V/metabolismo , Miosinas/genética , Síria
16.
Int J Occup Saf Ergon ; 28(4): 2501-2508, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-34898393

RESUMO

Objectives. This study assessed the physical and psychological burden of lead apron use on Jordanian interventionists and investigated the attitudes and knowledge of interventional personnel toward ergonomic guidelines and practices. Methods. A cross-sectional investigation of a randomly sampled Jordanian cohort of interventional personnel was conducted using a self-administered questionnaire.Results. A nationwide sample of 130 practitioners with a mean 9.3 ± 8.1 years of experience in interventional procedures participated. Practitioners were aware of their apron's weight but not of its lead equivalence (71.5%). More than 60% of respondents complained of back pain. While 66.9% did not develop musculoskeletal pathologies, 64.3% of those with already established musculoskeletal pathologies experienced worse pain due to apron usage. Despite believing in the effect of lead aprons on muscular strain and work performance, 78.5% adhere to its usage. In terms of ergonomics, only 39.2% were aware of ergonomic guidelines; however, 90.0% believe that ergonomic practices are essential as 49.2% have experienced discomfort due to bad ergonomics. In terms of psychological burden, anxiety and depression were suggested in 16.4 and 21.6% of the sample.Conclusion. Jordanian interventionists portray positive attitudes toward lead aprons; nevertheless, their awareness of ergonomic practices warrants the implementation of evidenced-based interventions.


Assuntos
Doenças Musculoesqueléticas , Doenças Profissionais , Humanos , Doenças Musculoesqueléticas/epidemiologia , Doenças Profissionais/epidemiologia , Estudos Transversais , Jordânia/epidemiologia , Ergonomia , Dor nas Costas/epidemiologia
17.
Clin Nephrol ; 94(5): 252-259, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-32909539

RESUMO

BACKGROUND: IgA nephropathy (IgAN) is characterized by proteinuria, hypertension, and decreased glomerular filtration rate at the time of diagnosis. However, the underlying mechanism is still obscure. The impact of haptoglobin (Hp) phenotype, as a genetic risk factor, on the progression of IgAN has not been studied yet. The current study examines whether Hp phenotype influences IgAN progression and response to treatment. MATERIALS AND METHODS: The study included 40 patients with IgAN, 26 non-IgAN chronic kidney disease (CKD), 114 patients on hemodialysis, and 150 healthy subjects. Blood and urine samples were collected at baseline and 6 months after initiation therapy. Serum creatinine, total proteinuria, and Hp phenotype were determined in all patients and healthy controls. RESULTS: Approximately 17% of IgAN patients were Hp 1-1, 40% Hp 2-1, and 42.5% Hp 2-2. In contrast, in non-IgAN CKD patients, the prevalence of Hp 1-1, Hp 2-1, and Hp 2-2 was 8%, 19%, and 73%, respectively. In hemodialytic patients, prevalence of Hp 1-1, Hp 2-1, and Hp 2-2 was 10.5, 49.1, and 40.4%, respectively. In healthy subjects, the distribution of Hp 1-1, Hp 2-1, and Hp 2-2 was 7, 39, and 54%, respectively. Interestingly, IgAN Hp 2-2 and Hp 2-1 patients were more stable and responded better to treatment with routine therapy than other patients with Hp phenotype. CONCLUSION: The prevalence of Hp 1-1 phenotype is higher in IgAN patients than in the general population in Israel, and even more than in patients with CKD or subjects on hemodialysis. Patients with Hp 2-2 exhibited a better renal response to the routine therapies.


Assuntos
Glomerulonefrite por IGA/genética , Haptoglobinas/genética , Adulto , Idoso , Progressão da Doença , Feminino , Glomerulonefrite por IGA/sangue , Glomerulonefrite por IGA/etiologia , Glomerulonefrite por IGA/terapia , Humanos , Masculino , Pessoa de Meia-Idade , Fenótipo , Estudos Prospectivos
18.
Eur J Med Genet ; 63(10): 104023, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-32735948

RESUMO

Tufting enteropathy (TE) is a rare autosomal recessive congenital enteropathy that usually requires long-term parenteral nutrition (PN). In the Arabic Peninsula, four distinct EPCAM mutations have been identified to cause TE. As consanguineous marriages are socially favored, pre-marital and pre-conception testing has become a critical disease prevention strategy. This study aimed to identify the pathogenic EPCAM mutations causing TE in Qatari families and determine possible genotype-phenotype correlations. Twenty-two TE patients from seven multiplex families with TE were identified. Blood samples were collected from patients and first-degree relatives. Exons of the gene were amplified and sequenced. Retrospective chart review and/or family interviews were conducted to determine phenotypic characteristics of the disease. Sequence analysis revealed a single, previously described c.499dup mutation in exon 5 of all families tested, suggesting a founder effect. Of the 18 patients whose full clinical information was available, three patients (17%) were off PN with a good quality of life, without intestinal transplantation, and one (6%) was receiving partial PN. Our patients with TE were severely stunted compared to a similar group of patients receiving long-term PN for short bowel syndrome, suggesting that this could possibly be due to TE rather than secondary to inadequate nutrition. Our study identified the EPCAM mutation c.499dup as the genetic defect causing TE in all the participant Qatari families. This finding should facilitate early diagnosis of TE and genetic counseling. Furthermore, it should aid in the prevention of TE through pre-marital screening, antenatal diagnosis, and pre-implantation genetic diagnosis.


Assuntos
Diarreia Infantil/diagnóstico , Diarreia Infantil/genética , Molécula de Adesão da Célula Epitelial/genética , Síndromes de Malabsorção/diagnóstico , Síndromes de Malabsorção/genética , Consanguinidade , Diarreia Infantil/sangue , Diarreia Infantil/fisiopatologia , Molécula de Adesão da Célula Epitelial/sangue , Éxons , Família , Feminino , Efeito Fundador , Estudos de Associação Genética , Aconselhamento Genético , Humanos , Lactente , Síndromes de Malabsorção/sangue , Síndromes de Malabsorção/fisiopatologia , Masculino , Mutação , Linhagem , Catar , Estudos Retrospectivos , Análise de Sequência de DNA
19.
Nat Commun ; 10(1): 5309, 2019 12 03.
Artigo em Inglês | MEDLINE | ID: mdl-31796727

RESUMO

Bioelectronic medicine is driving the need for neuromorphic microcircuits that integrate raw nervous stimuli and respond identically to biological neurons. However, designing such circuits remains a challenge. Here we estimate the parameters of highly nonlinear conductance models and derive the ab initio equations of intracellular currents and membrane voltages embodied in analog solid-state electronics. By configuring individual ion channels of solid-state neurons with parameters estimated from large-scale assimilation of electrophysiological recordings, we successfully transfer the complete dynamics of hippocampal and respiratory neurons in silico. The solid-state neurons are found to respond nearly identically to biological neurons under stimulation by a wide range of current injection protocols. The optimization of nonlinear models demonstrates a powerful method for programming analog electronic circuits. This approach offers a route for repairing diseased biocircuits and emulating their function with biomedical implants that can adapt to biofeedback.


Assuntos
Neurônios/fisiologia , Animais , Tronco Encefálico/fisiologia , Hipocampo/fisiologia , Ativação do Canal Iônico , Canais Iônicos/metabolismo , Masculino , Modelos Neurológicos , Células Piramidais/fisiologia , Ratos Wistar , Respiração
20.
Ther Apher Dial ; 22(4): 380-388, 2018 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-29600589

RESUMO

This cross-sectional study examined possible associations of peritoneal glucose load with male sexual dysfunction and depression in peritoneal dialysis patients. Compared to patients with peritoneal glucose load ≤3 g/kg per day, those with load >3 g/kg per day had higher Beck Depression Inventory scores, (18.9 ± 5.4 vs. 11.4 ± 5.8, P = 0.002) and lower International Index of Erectile Function scores, serum total testosterone and DHEA [(15.4 ± 6.4 vs. 45.1 ± 20.7, P < 0.001), (8.5 ± 3.0 vs. 13.9 ± 3.2, P < 0.001), (113.9 ± 58.8 vs. 280.2 ± 128.3, P < 0.001); respectively)]. Of participants with peritoneal glucose load >3 g/kg per day, 84.6% had mild to moderate erectile dysfunction and 92.3% had abnormal Beck Depression Inventory scores. Peritoneal glucose load inversely correlated with International Index of Erectile Function scores (P < 0.001), total serum testosterone (P = 0.002) and serum DHEA (P = 0.001); and directly with Beck Depression Inventory scores (P < 0.001) and serum estradiol (P < 0.001). This study demonstrated higher prevalence of sexual dysfunction, depression and sex hormone disturbances in male peritoneal dialysis patients receiving higher peritoneal glucose load.


Assuntos
Depressão/epidemiologia , Disfunção Erétil/epidemiologia , Glucose/administração & dosagem , Diálise Peritoneal/métodos , Idoso , Estudos Transversais , Desidroepiandrosterona/sangue , Depressão/etiologia , Disfunção Erétil/etiologia , Estradiol/sangue , Humanos , Masculino , Pessoa de Meia-Idade , Escalas de Graduação Psiquiátrica , Testosterona/sangue
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