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BACKGROUND: The global prevalence of obesity has increased over the past 40 years, and bariatric surgery has proven to be the most effective therapy for long-term weight loss. Its principles are based on modifying the brain-gut axis by altering the gastrointestinal anatomy and affecting the function of gastrointestinal hormones, thereby modifying satiety signals. Single anastomosis duodeno-ileal bypass with sleeve gastrectomy (SADI-S) combines both techniques and has become an alternative to gastric bypass and biliopancreatic diversion procedures for treating severe obesity and associated metabolic diseases in selected patients. AIM: To describe the outcomes and complications of SADI-S. METHODS: We retrospectively analyzed the data of patients who underwent SADI-S laparoscopically at the Clínica Reina Sofía in Bogotá, Colombia. This study assessed the therapeutic effectiveness of SADI-S in terms of short-term preoperative clinical characteristics, postoperative complications, comorbidities, nutritional defi-ciencies, and intraoperative complications during a 2-year follow-up. RESULTS: Sixty-one patients with a mean body mass index (BMI) of 50 ± 7.1 kg/m2 underwent laparoscopic SADI-S. The mean operative time and hospital stays were 143.8 ± 42 min and 2.3 ± 0.8 d, respectively. The mean follow-up period was 18 mo, and the mean BMI decreased to 28.5 ± 12.2 kg/m2. The excess BMI loss was 41.8% ± 13.5%, and the weight loss percentage was 81.1% ± 17.0%. Resolution of obesity-related comorbidities, including type 2 diabetes mellitus, hypertension, dyslipidemia, and obstructive sleep apnea, was achieved and defined as complete or partial remission. No intraoperative complications were observed. Short-term complications were observed in four (6.8%) patients. However, larger studies with longer follow-up periods are required to draw definitive conclusions. CONCLUSION: SADI-S has a low intraoperative and postoperative complication rate and is effective for weight loss and improving obesity-related comorbidities, including hypertension, type 2 diabetes mellitus, dyslipidemia, and sleep apnea syndrome.
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INTRODUCTION AND OBJECTIVES: Obesity is a global health problem that triggers fat liver accumulation. The prevalence of obesity and the risk of non-alcoholic steatohepatitis (NASH) among young obese Mexican is high. Furthermore, genetic predisposition is a key factor in weight gain and disrupts metabolism. Herein, we used Whole-Exome Sequencing to identify potential causal variants and the biological processes that lead to obesity with progression to NASH among Mexican patients. MATERIALS AND METHODS: Whole-Exome Sequencing was performed in nine obese patients with NASH diagnosis with a BMI ≥30 kg/m2 and one control (BMI=24.2 kg/m2) by using the Ion S5TM platform. Genetic variants were determined by Ion Reporter software. Enriched GO biological set genes were identified by the WebGestalt tool. Genetic variants within ≥2 obese NASH patients and having scores of SIFT 0.0-0.05 and Polyphen 0.85-1.0 were categorized as pathogenic. RESULTS: A total of 1359 variants with a probable pathogenic effect were determined in obese patients with NASH diagnosis. After several filtering steps, the most frequent pathogenic variants found were rs25640-HSD17B4, rs8105737-OR1I1, rs998544-OR5R1, and rs4916685, rs10037067, and rs2366926 in ADGRV1. Notably, the primary biological processes affected by these pathogenic variants were the sensory perception and detection of chemical stimulus pathways in which the olfactory receptor gene family was the most enriched. CONCLUSIONS: Variants in the olfactory receptor genes were highly enriched in Mexican obese patients that progress to NASH and could be potential targets of association studies.
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Hepatopatia Gordurosa não Alcoólica , Receptores Odorantes , Humanos , Hepatopatia Gordurosa não Alcoólica/diagnóstico , Hepatopatia Gordurosa não Alcoólica/epidemiologia , Hepatopatia Gordurosa não Alcoólica/genética , Receptores Odorantes/genética , Receptores Odorantes/metabolismo , Sequenciamento do Exoma , Fígado/patologia , Obesidade/diagnóstico , Obesidade/epidemiologia , Obesidade/genéticaRESUMO
BACKGROUND: Obesity has reached epidemic proportions worldwide, affecting life quality and span. Susceptibility to obesity is partly mediated by genetic differences. Indeed, several genes from the clock gene family have already been shown to be intimately associated with obesity in diverse ethnic groups. In the present study, an association between BMI and the rs707467, rs228697 and rs228729 PER3 (Period Circadian Clock 3) polymorphisms in subjects with class II (BMI ≥ 35.0-39.9 kg/m2) and class III obesity (>40 kg/m2, extreme obesity) were carried out using TaqMan real-time PCR. Overall, 259 Brazilian adults were genotyped, of whom 122 had class II or III obesity (BMI ≥ 35.0 kg/m2) and 137 were controls having normal weight (BMI > 18.5 and <24.9 kg/m2). RESULTS: PER3 tag SNP (rs228729) shows a significant association with extreme obesity (1000 permutation p = 0.03 and p = 0.04), for genotype and allele frequency respectively) and a haplotype among the three assessed SNPs (alleles G/T/A, rs228697, rs228729, and rs707467, respectively, 1000 permutation p = 0.03) was significantly more prevalent in the group with obesity. CONCLUSION: This exploratory association study suggests that PER3 rs228729 may be associated with extreme obesity in Brazilian adults, however, replication is needed.
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Obesidade Mórbida/genética , Proteínas Circadianas Period , Polimorfismo de Nucleotídeo Único , Adulto , Alelos , Proteínas CLOCK/genética , Ritmo Circadiano , Frequência do Gene , Genótipo , Humanos , Proteínas Circadianas Period/genética , Proteínas Circadianas Period/metabolismoRESUMO
BACKGROUND: Congenital leptin deficiency is a recessive genetic disorder associated with severe early-onset obesity. It is caused by mutations in the leptin (LEP) gene, which encodes the protein product leptin. These mutations may cause nonsense-mediated mRNA decay, defective secretion or the phenomenon of biologically inactive leptin, but typically lead to an absence of circulating leptin, resulting in a rare type of monogenic extreme obesity with intense hyperphagia, and serious metabolic abnormalities. METHODS: We present two severely obese sisters from Colombia, members of the same lineal consanguinity. Their serum leptin was measured by MicroELISA. DNA sequencing was performed on MiSeq equipment (Illumina) of a next-generation sequencing (NGS) panel involving genes related to severe obesity, including LEP. RESULTS: Direct sequencing of the coding region of LEP gene in the sisters revealed a novel homozygous missense mutation in exon 3 [NM_002303.3], C350G>T [p.C117F]. Detailed information and clinical measurements of these sisters were also collected. Their serum leptin levels were undetectable despite their markedly elevated fat mass. CONCLUSIONS: The mutation of LEP, absence of detectable leptin, and the severe obesity found in these sisters provide the first evidence of monogenic leptin deficiency reported in the continents of North and South America.