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1.
Eur J Case Rep Intern Med ; 11(9): 004763, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39247243

RESUMEN

Celiac disease, a prevalent autoimmune disorder, can present atypically with fat malabsorption and coagulopathy due to vitamin K malabsorption. A 64-year-old male presented with haemoptysis and severe anaemia (Hb 6 g/dl). Despite normal previous coagulation tests, admission laboratory tests revealed an international normalised ratio (INR) of 7.0 and iron deficiency anaemia. Initial blood products and vitamin K treatment corrected the INR temporarily, but the patient's haemoptysis returned, and his INR values continued to rise. Further investigation revealed celiac disease with fat malabsorption, leading to vitamin K malabsorption and along with a previously prescribed antiplatelet aggregation therapy, this led to diffuse alveolar haemorrhage. A gluten-free diet and vitamin supplementation normalised the patient's INR and stopped the bleeding. This case highlights the importance of considering celiac disease in unexplained coagulopathies and the effectiveness of dietary management. LEARNING POINTS: Celiac disease can cause severe coagulopathy due to fat malabsorption and vitamin K deficiency.High suspicion is required for atypical presentations of celiac disease.A gluten-free diet is essential for managing celiac disease and normalising coagulation profiles.

2.
Clin Case Rep ; 12(9): e9387, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-39247563

RESUMEN

Key Clinical Message: Herein, we report a rare case of nyctalopia diagnosed in the first trimester of pregnancy due to vitamin A deficiency as a result of a bariatric gastrectomy. Low serum vitamin A levels establish the diagnosis and the patient was treated with oral vitamin A supplements. Moreover, due to the teratogenic effects of exceed Vitamin A levels in early pregnancy, supplements' dosages should be prescribed with respect to the safe limits. Our case aims to highlight the importance of checking micronutricients and vitamins levels before and during pregnancy in women that had a previous bariatric surgery. Abstract: Vitamin A deficiency (VAD) has been identified as the predominant factor in the development of night blindness during pregnancy, a high-risk for morbidity situation. Herein, we report a rare case of nyctalopia diagnosed in the first trimester of pregnancy due to VAD as a result of a bariatric gastrectomy. Our case aims to highlight the importance of checking micronutricients and vitamins levels before and during pregnancy in women that had a previous bariatric surgery. Low serum vitamin A levels establish the diagnosis and the patient was treated with oral vitamin A supplements. An uneventful antenatal course resulted in the birth of a healthy live neonatal at 38 weeks of gestation. In conclusion, nyctalopia is a rare condition in pregnant women that is often caused by VAD that poses significant health risks for both the mother and the infant, especially in women with a history of gastrointestinal bypass surgery, or any factors leading to malnutrition. Clinicians have to be alerted for micronutrients deficient in pregnant women who have a bariatric operation in their medical history.

3.
Artículo en Inglés | MEDLINE | ID: mdl-39242350

RESUMEN

Refractory hypothyroidism (RF) defined as raised serum levels of thyroid stimulating hormone (TSH) above upper limit of the reference range with or without the persistence of hypothyroid symptoms following a 6-week interval after the dosage was last increased to upper limits of dose per age. The most common cause of RH is inadequate compliance. In addition, diet, concomitant medication interactions, and gastrointestinal diseases can all result in l-thyroxine (LT4) malabsorption, which can cause RH. Moreover, weight gain, switching brands of LT4, poor storage of LT4, chronic liver disorders, cystic fibrosis, nephrotic syndrome, consumptive hypothyroidism, Addison's disease are significant contributors to RF in children. RH in children is frequently asymptomatic, when symptoms do occur, they are typically minor and resemble those of hypothyroidism. It is essential to identify RH early and treat its underlying cause in order to avoid overusing LT4, which can lead to cardiac and bone problems. Endocrinologists should handle children who they suspect of having RH methodically after making sure there is enough compliance. Searching for undiagnosed illnesses and/or other factors that can affect LT4 absorption could be part of this. We present this review after an extensive literature search and long-standing clinical experience. This review's objective is to shed light on the causes, clinical manifestations, investigations, and treatment of RH in children.

4.
Adv Lab Med ; 5(3): 327-332, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-39252801

RESUMEN

Objectives: Exhaled breath tests (BTs) are the main diagnostic method for fructose and lactose malabsorption/intolerance (FI and LI, respectively) and for detecting small intestine bacterial or methanogen overgrowth (SIBO/IMO). Although FI/LI-BTs may provide evidence of the presence of SIBO/IMO, there is limited literature evaluating their reliability for this purpose. The objective of this study was to assess the sensitivity and specificity of FI/LI-BTs in detecting SIBO and their concordance with SIBO-BTs in the identification of IMO. Methods: In this retrospective observational study, FI/LI-BTs and SIBO-BTs performed in the same patients within a period of 6 weeks were selected from 652 gas chromatography-based BTs. Results: A total of 146 BTs from 67 eligible adult patients were identified. LI-BTs had higher specificity than FI-BT in detecting SIBO (93.8 % vs. 72.7 %). In contrast, FI-BTs showed higher sensitivity (60.0 % vs. 28.6 %) as FI was more frequently established in SIBO-positive patients (70 % vs. 29 %). With regard to IMO, concordance with LI-BT was 100 %, with a 27 % of false negatives on FI-BTs. Conclusions: Findings suggestive of SIBO or IMO on LI-BTs were highly consistent with those of SIBO-BTs. In contrast, the rate of false positives for SIBO and the rate of false negative for IMO on FI-BTs was 27 % in both cases.

5.
Surg Neurol Int ; 15: 231, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39108385

RESUMEN

Background: Tumors in or near the foramen magnum may cause communicating or non-communicating hydrocephalus (HC), depending on their size and location. Here, an 81-year-old female developed communicating HC following the resection of a meningioma ventral to the foramen magnum. Case Description: An 81-year-old female presented with numbness in the left neck and left hemiparesis. The magnetic resonance revealed an 18-mm tumor ventral to the foramen magnum that significantly enlarged over the past 6 months. She underwent total tumor resection but then presented with progressive HC both clinically (i.e., instability of gait with confusion) and radiographically (computed tomography). Following placement of a lumboperitoneal (LP) shunt, symptoms markedly improved. Further, the cerebrospinal fluid (CSF) analysis showed elevated cell counts and protein concentrations, indicating likely "leakage" of intratumoral contents postoperatively contributing to the progressive HC. Conclusion: Patients presenting with acute meningiomas ventral to the foramen magnum may develop postoperative communicating HC attributed to tumor-related CSF leakage of necrotic intratumoral components that can be successfully treated with a LP shunt.

6.
Clin Chem Lab Med ; 2024 Aug 05.
Artículo en Inglés | MEDLINE | ID: mdl-39097844

RESUMEN

OBJECTIVES: 7α-Hydroxy-4-cholesten-3-one (C4) is the common intermediary of both primary bile acids. C4 is recommended by the British Society of Gastroenterology for the investigation of bile acid diarrhoea (BAD) in patients with chronic diarrhoea. This project aimed to develop and validate an assay to quantitate C4 in serum and assess the stability of C4 in unseparated blood. METHODS: Accuracy was underpinned by calibrating to quantitative nuclear magnetic resonance analysis. C4 was analysed in a 96-well plate format with a deuterated C4 internal standard and liquid-liquid extraction. Validation followed the 2018 Food and Drug Administration guidelines. To assess C4 stability, healthy volunteers (n=12) donated 8 fasted samples each. Samples were incubated at 20 °C for up to 72 h and retrieved, centrifuged, aliquoted and frozen for storage at different time points prior to C4 analysis. RESULTS: The C4 method demonstrated excellent analytical performance and passed all validation criteria. The method was found to be accurate, precise, free from matrix effects and interference. After 72 h of delayed sample separation, C4 concentration gradually declined by up to 14 % from baseline. However, the change was not significant for up to 12 h. CONCLUSIONS: We present a robust method of analysing serum C4, offering a convenient alternative to 75SeHCAT for BAD investigation. C4 was found to decline in unseparated blood over time; however, after 12 h the mean change was <5 % from baseline. Our results suggest C4 is suitable for collection from both primary and secondary care prior to gastroenterology referral.

7.
Am J Clin Nutr ; 2024 Aug 05.
Artículo en Inglés | MEDLINE | ID: mdl-39098707

RESUMEN

Nutritional deficiencies and nonspecific gastrointestinal symptoms such as nausea, vomiting, and poor oral tolerance are commonly observed following bariatric surgery. When these symptoms persist, especially when accompanied by malnutrition and hypoalbuminemia, may indicate an underlying inflammatory process contributing to these conditions such as small intestine bacterial overgrowth (SIBO). This case study describes a 34-y-old pregnant woman with a history of bariatric surgery, who presented with generalized swelling, persistent nausea, bloating, steatorrhea, and was found to have severe malnutrition, 18 mo after biliopancreatic diversion with duodenal switch (BPS/DS). She was empirically treated for SIBO using systemic antibiotics and was started on parenteral nutrition to prevent further calorie deficit during pregnancy. This case underlines the complexity and challenges in diagnosing SIBO after bariatric surgery that includes the creation of Roux-en-Y anatomy, including BPS/DS, and the relationship between albumin, malnutrition, and the effect of systemic inflammation on the latter two.

8.
J Clin Med ; 13(16)2024 Aug 11.
Artículo en Inglés | MEDLINE | ID: mdl-39200855

RESUMEN

Malnutrition, which includes macro- and micronutrient deficiencies, is common in individuals with allergic dermatitis, food allergies, rhinitis, and asthma. Prolonged deficiencies of proteins, minerals, and vitamins promote Th2 inflammation, setting the stage for allergic sensitization. Consequently, malnutrition, which includes micronutrient deficiencies, fosters the development of allergies, while an adequate supply of micronutrients promotes immune cells with regulatory and tolerogenic phenotypes. As protein and micronutrient deficiencies mimic an infection, the body's innate response limits access to these nutrients by reducing their dietary absorption. This review highlights our current understanding of the physiological functions of allergenic proteins, iron, and vitamin A, particularly regarding their reduced bioavailability under inflamed conditions, necessitating different dietary approaches to improve their absorption. Additionally, the role of most allergens as nutrient binders and their involvement in nutritional immunity will be briefly summarized. Their ability to bind nutrients and their close association with immune cells can trigger exaggerated immune responses and allergies in individuals with deficiencies. However, in nutrient-rich conditions, these allergens can also provide nutrients to immune cells and promote health.

9.
EClinicalMedicine ; 75: 102774, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-39210941

RESUMEN

Background: Exocrine Pancreatic insufficiency (EPI) occurs following acute pancreatitis (AP) at variably reported rates and with unclear recovery timeline. The aim of this study was to establish the prevalence and predictors of EPI at 12 months after AP in a prospective cohort. Methods: In this prospective, multicentre, longitudinal cohort study, adult participants (≥18 years) admitted to the hospital with an AP attack (defined by Revised Atlanta Classification) were enrolled in a United States multi-centre longitudinal cohort (Sites: The Ohio State University, University of Pittsburgh, and Johns Hopkins University). Patients were excluded if they had pancreatic cancer, chronic pancreatitis, or malabsorptive disease (including previously diagnosed EPI). Participant data was obtained by interview and by review of the electronic medical record. EPI was assessed by stool fecal elastase (FE-1) levels collected at baseline, 3 months, and 12 months (primary endpoint). EPI was defined by FE-1 <200 µg/g; severe FE-1 level ≤100 µg/g; mild FE-1 101-200 µg/g. Multivariable logistic regression was used to identify predictors of EPI at 12 months. This study is registered with ClinicalTrials.gov, NCT03063398. Findings: EPI was observed in 29 (34.1%) of the 85 participants [44 (51.8%) male, mean age 54.7 ± 14.1 years] who provided stool samples at 12 months. For the study overall, participants were recruited between June 22, 2017 and October 18, 2021. A total of 5794 individuals were screened, 311 of whom were eligible for the study. 112 participants provided stool samples at baseline, 79 completed stool samples at 3 months, and 85 completed samples at 12 months. 64 participants included samples at all 3 timepoints. In univariable analysis, factors significantly associated with EPI at 12 months included recurrent (versus index) AP, pre-existing diabetes, alcohol, and idiopathic etiologies, and increasing severity of AP. In multivariable analysis, the odds of having EPI at 12 months increased 4-fold with idiopathic AP etiology (Odds Ratio 4.095, 95% Confidence Interval [CI] 1.418, 11.826), and 3-fold with moderately severe or severe AP (Odds Ratio 3.166, 95% CI 1.156, 8.670), and baseline diabetes mellitus (Odds Ratio 3.217, 95% CI 1.113, 9.298). Even individuals with an index mild attack of AP (n = 39) developed severe EPI at 12 months (prevalence 12.8%). Interpretation: EPI as diagnosed by FE-1 is present in over one third of prospectively assessed patients at 12 months post-AP. Since EPI develops in patients with mild AP, investigations are needed to understand the mechanisms of injury and identify methods for tailored screening. Funding: This study was supported by an Investigator Initiated Research Grant from AbbVie, Inc.

10.
Nutrients ; 16(16)2024 Aug 13.
Artículo en Inglés | MEDLINE | ID: mdl-39203825

RESUMEN

This study investigated the risk profile and the impact of dietary intervention in calcium oxalate stone formers with enteric hyperoxaluria under controlled, standardized conditions. Thirty-seven patients were included in the study. Dietary and 24-h urinary parameters were obtained on the self-selected diet and a balanced, standardized diet. Tests for [13C2]oxalate absorption, calcium- and ammonium chloride-loading were performed. Mean [13C2]oxalate absorption was 18.8%. A significant positive association was observed between urinary oxalate excretion and intestinal oxalate absorption. In addition, urinary oxalate excretion was significantly correlated with dietary oxalate intake. Mean urinary oxalate excretion decreased from 0.841 mmol/24 h on the usual diet to 0.662 mmol/24 h on the balanced diet, corresponding to a reduction of 21.3%. Besides hyperoxaluria, hypocitraturia and hypomagnesuria were the most common urinary abnormalities at baseline, being present in 83.8% and 81.1% of patients, respectively. Urinary citrate increased by 50.9% and magnesium excretion increased by 25.2% on the balanced diet. As a result, the relative supersaturation of calcium oxalate declined significantly (by 36.2%) on the balanced diet. Since 41% of patients on the balanced diet still had a urine volume of less than 2.0 L/24 h, efforts should be made to increase urine volume by increasing fluid intake and reducing intestinal fluid losses. Dietary intervention proved to be effective in reducing urinary oxalate excretion and should be a cornerstone of the treatment of patients with enteric hyperoxaluria.


Asunto(s)
Oxalato de Calcio , Dieta , Hiperoxaluria , Humanos , Masculino , Femenino , Oxalato de Calcio/orina , Oxalato de Calcio/metabolismo , Persona de Mediana Edad , Hiperoxaluria/dietoterapia , Hiperoxaluria/orina , Adulto , Dieta/métodos , Oxalatos/orina , Oxalatos/metabolismo , Anciano , Cálculos Renales/dietoterapia , Cálculos Renales/orina , Cálculos Renales/etiología , Absorción Intestinal , Magnesio/orina , Magnesio/administración & dosificación , Magnesio/metabolismo , Ácido Cítrico/orina
11.
Nutrients ; 16(16)2024 Aug 16.
Artículo en Inglés | MEDLINE | ID: mdl-39203877

RESUMEN

The rise in food intolerances and celiac disease, along with advanced diagnostic techniques, has prompted health professionals to seek effective and economical testing methods. This study evaluates combining genetic tests with routine carbohydrate-absorption breath tests to classify patients with chronic gastrointestinal disorders into therapeutic groups, enhancing dietary management and improving gut health and quality of life. Forty-nine patients with suspected carbohydrate intolerance underwent genetic testing for lactase non-persistence, hereditary fructose intolerance, and celiac disease risk. Simultaneously, breath tests assessed lactose and fructose absorption. The lactase non-persistence genotype appeared in 36.7% of cases, with one hereditary fructose-intolerance case in a heterozygous condition. Celiac disease risk markers (HLA-DQ2/8 haplotypes) were found in 49.0% of the population. Secondary lactose and/or fructose malabsorption was present in 67.3% of patients, with 66.1% of lactase non-persistence individuals showing secondary lactose malabsorption. Fructose malabsorption was prevalent in 45.8% of patients at risk for celiac disease. Two main treatment groups were defined based on genetic results, indicating primary and irreversible gastrointestinal disorder causes, followed by a sub-classification using breath test results. Genetic testing is a valuable tool for designing dietary management plans, avoiding unnecessary diet restrictions, and reducing recovery times.


Asunto(s)
Pruebas Respiratorias , Enfermedad Celíaca , Intolerancia a la Fructosa , Enfermedades Gastrointestinales , Pruebas Genéticas , Lactasa , Intolerancia a la Lactosa , Humanos , Femenino , Masculino , Adulto , Enfermedad Celíaca/dietoterapia , Enfermedad Celíaca/genética , Persona de Mediana Edad , Pruebas Respiratorias/métodos , Pruebas Genéticas/métodos , Intolerancia a la Fructosa/genética , Intolerancia a la Fructosa/dietoterapia , Intolerancia a la Fructosa/diagnóstico , Enfermedades Gastrointestinales/dietoterapia , Enfermedades Gastrointestinales/genética , Enfermedades Gastrointestinales/diagnóstico , Intolerancia a la Lactosa/genética , Intolerancia a la Lactosa/dietoterapia , Intolerancia a la Lactosa/diagnóstico , Enfermedad Crónica , Lactasa/genética , Lactasa/deficiencia , Lactasa/metabolismo , Anciano , Intolerancia Alimentaria/genética , Adulto Joven , Adolescente , Fructosa
12.
Heliyon ; 10(13): e33497, 2024 Jul 15.
Artículo en Inglés | MEDLINE | ID: mdl-39040322

RESUMEN

This study aimed to develop a low-fructose (<3 g/serve) carbohydrate (CHO) gel for athletes. Various prototypes with 30 g CHO/serve and differing water content (12 %, 21 %, 32 %, 39 % w/v) were created and evaluated for sensory attributes. The final gel contained 62.1 ± 0.2 g CHO/100 g with 0.17 % w/w fructose. Endurance athletes (n = 20) underwent a feeding-challenge protocol, ingesting 30 g gel every 20 min during 2 h of running (60 % V ˙ O2max), followed by a 1 h self-paced distance test. Blood glucose increased significantly from baseline (4.0 ± 0.9 vs. 6.6 ± 0.6 mmol/L, p < 0.001) and remained elevated after the distance test (4.9 ± 0.7 mmol/L, p < 0.05). Breath hydrogen levels increased (5 ± 4 ppm, p < 0.05) without substantial CHO malabsorption detected. Gastrointestinal symptoms (GIS) increased during exercise but were mild. The low-fructose CHO gel demonstrated good tolerance, promoting glucose availability without severe GIS or CHO malabsorption.

13.
Front Psychol ; 15: 1414852, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39070588

RESUMEN

Introduction: Due to an inhibited tryptophan resorption, patients with fructose malabsorption are expected to experience decreased serotonin synthesis. A deficiency of serotonin may cause internalizing mental disorders like depression and anxiety, and a fructose-oriented eating behavior may affect these symptoms. Methods: The parents of 24 children and adolescents with a currently diagnosed fructose malabsorption aged 4;00-13;02 years (M = 8.10, SD = 2.05), the parents of 12 patients with a currently confirmed combination of fructose and lactose malabsorption aged 4;00-12;11 years (M = 8.07, SD = 2.11) and the parents of a comparative sample of 19 healthy participants aged 5;00 to 17;07 years (M = 9.06, SD = 3.04) were interviewed. The interviews were conducted using a screening questionnaire of the German "Diagnostic System of Mental Disorders in children and adolescents based on the ICD-10 and DSM-5 DISYPS-III" and a self-developed questionnaire on eating, leisure and sleeping behavior. Results: On standardized scales parents of children with fructose malabsorption reported higher levels of Depression compared to symptoms of Attention-Deficit/Hyperactivity Disorders (ADHD) and Oppositional Defiant and Conduct Disorders (ODD/CD). Compared to healthy controls, for patients with fructose malabsorption, higher symptom levels of Depression and Anxiety were reported. With regard to eating behavior, within the group with a combination of fructose and lactose malabsorption, a strong positive association between an increased fruit sugar consumption and higher levels of Anxiety and Obsessive-Compulsive Disorders/Tics were found. Discussion: These results suggest a close association between fructose malabsorption and elevated internalizing psychological symptoms in children and adolescents.Clinical trial registration:https://drks.de/search/en/trial/DRKS00031047, DRKS-ID [DRKS00031047].

14.
Ther Adv Psychopharmacol ; 14: 20451253241263714, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39070776

RESUMEN

Gastric malabsorptive conditions may prevent patients from deriving benefit from orally administered medications intended for enteric absorption. While malabsorption is an increasingly common issue, current data on alternative oral options for agitation in these patients are very sparse. Sublingual (SL) asenapine is absorbed transmucosally, bypassing gut absorption, making it a viable consideration. We report on three patients, one with short bowel syndrome, one with viral gastritis, and one with aortic dissection who were trialed on SL asenapine for agitation after failing alternative antipsychotics. Two of these patients had an extensive history of psychiatric admissions for bipolar disorder and substance-induced psychosis. All three patients had significant reductions in agitation within 1-5 days, with no reported adverse effects. However, benefit of SL asenapine was hindered in two of these patients as they began inappropriately swallowing the medication, reducing bioavailability to nil. Clinicians should consider the use of SL asenapine for medically complex agitated patients where gastric absorption is questionable. There is an urgent need for guidelines on this matter, as well as more, alternative dosage forms for various medications that may help with agitation in this population.

15.
Eur J Intern Med ; 2024 Jul 27.
Artículo en Inglés | MEDLINE | ID: mdl-39069430

RESUMEN

Bile acid malabsorption (BAM) is an important disorder of digestive pathophysiology as it generates chronic diarrhoea. This condition originates from intricate pathways involving bile acid synthesis and metabolism in the liver and gut, the composition of gut microbiota, enterohepatic circulation and key receptors as farnesoid X receptor (FXR), fibroblast growth factor receptor 4 (FGFR4), and the G-protein bile acid receptor-1 (GPBAR-1). Although symptoms can resemble those related to disorders of gut brain interaction, accurate diagnosis of BAM may greatly benefit the patient. The empiric diagnosis of BAM is primarily based on the clinical response to bile acid sequestrants. Specific tests including the 48-hour fecal bile acid test, serum levels of 7α-hydroxy-4-cholesten-3-one (C4) and fibroblast growth factor 19 (FGF19), and the 75Selenium HomotauroCholic Acid Test (SeHCAT) are not widely available. Nevertheless, lack of diagnostic standardization of BAM may account for poor recognition and delayed management. Beyond bile acid sequestrants, therapeutic approaches include the use of FXR agonists, FGF19 analogues, glucagon-like peptide-1 (GLP-1) receptor agonists, and microbiota modulation. These novel agents can best make their foray into the therapeutic armamentarium if BAM does not remain a diagnosis of exclusion. Ignoring BAM as a specific condition may continue to contribute to increased healthcare costs and reduced quality of life. Here, we aim to provide a comprehensive review of the pathophysiology, diagnosis, and management of BAM.

16.
Biomedicines ; 12(7)2024 Jul 12.
Artículo en Inglés | MEDLINE | ID: mdl-39062121

RESUMEN

Over the past three decades, significant efforts have been focused on unraveling congenital intestinal disorders that disrupt the absorption of dietary lipids and fat-soluble vitamins. The primary goal has been to gain deeper insights into intra-enterocyte sites, molecular steps, and crucial proteins/regulatory pathways involved, while simultaneously identifying novel therapeutic targets and diagnostic tools. This research not only delves into specific and rare malabsorptive conditions, such as chylomicron retention disease (CRD), but also contributes to our understanding of normal physiology through the utilization of cutting-edge cellular and animal models alongside advanced research methodologies. This review elucidates how modern techniques have facilitated the decoding of CRD gene defects, the identification of dysfunctional cellular processes, disease regulatory mechanisms, and the essential role of coat protein complex II-coated vesicles and cargo receptors in chylomicron trafficking and endoplasmic reticulum (ER) exit sites. Moreover, experimental approaches have shed light on the multifaceted functions of SAR1B GTPase, wherein loss-of-function mutations not only predispose individuals to CRD but also exacerbate oxidative stress, inflammation, and ER stress, potentially contributing to clinical complications associated with CRD. In addition to dissecting the primary disease pathology, genetically modified animal models have emerged as invaluable assets in exploring various ancillary aspects, including responses to environmental challenges such as dietary alterations, gender-specific disparities in disease onset and progression, and embryonic lethality or developmental abnormalities. In summary, this comprehensive review provides an in-depth and contemporary analysis of CRD, offering a meticulous examination of the CRD current landscape by synthesizing the latest research findings and advancements in the field.

17.
Scand J Clin Lab Invest ; 84(4): 268-272, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38984772

RESUMEN

BACKGROUND: Reduced activity of the sucrase-isomaltase (SI) enzyme can cause gastrointestinal symptoms. Biochemical measurement of SI activity in small intestinal biopsies is presently considered the gold standard for the diagnosis of SI deficiency, but this invasive test is not suitable as a routine diagnostic tool. AIM: To evaluate a 13C-sucrose-breath test (13CSBT) as a diagnostic tool for SI deficiency in an adult population. METHODS: 13CSBT results were compared to sucrase activity measured in duodenal biopsies. RESULTS: Forty patients with gastrointestinal symptoms were included in the study, 4 of whom had celiac disease and the rest (n = 36) had normal histological findings. Nine patients (22.5%) had low sucrase activity measured using duodenal biopsies. No correlation was observed between enzymatic sucrase activity and the 13CSBT results. The 13CSBT-curves for the celiac patients versus patients with normal duodenal histology demonstrated that the patients with celiac disease were within the lower range of the distribution. CONCLUSION: We observed a mismatch between the 13CSBT results and the biochemically measured sucrase activity, suggesting that SI activity is not uniformly distributed throughout the small intestines. This methodological discrepancy should be acknowledged when diagnosing SI deficiency.


Asunto(s)
Pruebas Respiratorias , Errores Innatos del Metabolismo de los Carbohidratos , Enfermedad Celíaca , Duodeno , Complejo Sacarasa-Isomaltasa , Sacarosa , Humanos , Pruebas Respiratorias/métodos , Adulto , Complejo Sacarasa-Isomaltasa/deficiencia , Complejo Sacarasa-Isomaltasa/metabolismo , Masculino , Femenino , Duodeno/enzimología , Duodeno/patología , Persona de Mediana Edad , Errores Innatos del Metabolismo de los Carbohidratos/diagnóstico , Errores Innatos del Metabolismo de los Carbohidratos/enzimología , Sacarosa/metabolismo , Enfermedad Celíaca/diagnóstico , Enfermedad Celíaca/enzimología , Isótopos de Carbono , Anciano , Biopsia , Adulto Joven , Pruebas de Enzimas/métodos , Adolescente
18.
Nutr J ; 23(1): 84, 2024 Jul 29.
Artículo en Inglés | MEDLINE | ID: mdl-39075463

RESUMEN

BACKGROUND: The black/white heart disease mortality disparity began increasing in the early 1980's, coincident with the switch from sucrose to high-fructose-corn-syrup/(HFCS) in the US food supply. There has been more fructose in HFCS than generally-recognized-as-safe/GRAS, which has contributed to unprecedented excess-free-fructose/(unpaired-fructose) in foods/beverages. Average- per-capita excess-free-fructose, from HFCS, began exceeding dosages/(5-10 g) that trigger fructose-malabsorption in the early 1980's. Fructose malabsorption contributes to gut-dysbiosis and gut-in-situ-fructosylation of dietary peptides/incretins/(GLP-1/GIP) which forms atherosclerotic advanced-glycation-end-products. Both dysregulate gut endocrine function and are risk factors for cardiovascular disease/(CVD). Limited research shows that African Americans have higher fructose malabsorption prevalence than others. CVD risk begins early in life. METHODS: Coronary-Artery-Risk-Development-in-Adults/(CARDIA) study data beginning in 1985-86 with 2186 Black and 2277 White participants, aged 18-30 y, were used to test the hypothesis that HFCS sweetened beverage intake increases CVD risk/incidence, more among Black than White young adults, and at lower intakes; while orange juice-a low excess-free-fructose juice with comparable total sugars and total fructose, but a 1:1 fructose-to-glucose-ratio, i.e., low excess-free-fructose, does not. Cox proportional hazards models were used to calculate hazard ratios. RESULTS: HFCS sweetened beverage intake was associated with higher CVD risk (HR = 1.7) than smoking (HR = 1.6). CVD risk was higher at lower HFCS sweetened beverage intake among Black than White participants. Intake, as low as 3 times/wk, was associated with twice the CVD risk vs. less frequent/never, among Black participants only (HR 2.1, 95% CI 1.2-3.7; P = 0.013). Probability of an ordered relationship approached significance. Among Black participants, CVD incidence jumped 62% from 59.8/1000, among ≤ 2-times/wk, to 96.9/1000 among 3-6 times/wk consumers. Among White participants, CVD incidence increased from 37.6/1000, among ≤ 1.5-times/wk, to 41.1/1000, among 2 times/wk-once/d - a 9% increase. Hypertension was highest among Black daily HFCS sweetened beverage consumers. CONCLUSION: The ubiquitous presence of HFCS over-the-past-40 years, at higher fructose-to-glucose ratios than generally-recognized-as-safe, may have contributed to CVD racial disparities, due to higher fructose-malabsorption prevalence among Black individuals, unpaired/excess-free-fructose induced gut dysbiosis and gut fructosylation of dietary peptides/incretins (GLP-1/GIP). These disturbances contribute to atherosclerotic plaque; promote incretin insufficiency/dysregulation/altered satiety/dysglycemia; decrease protective microbiota metabolites; and increase hypertension, CVD morbidity and mortality.


Asunto(s)
Negro o Afroamericano , Enfermedades Cardiovasculares , Jarabe de Maíz Alto en Fructosa , Humanos , Masculino , Enfermedades Cardiovasculares/epidemiología , Jarabe de Maíz Alto en Fructosa/efectos adversos , Negro o Afroamericano/estadística & datos numéricos , Adulto , Femenino , Incidencia , Adulto Joven , Estados Unidos/epidemiología , Adolescente , Bebidas Azucaradas/efectos adversos , Bebidas Azucaradas/estadística & datos numéricos , Factores de Riesgo , Fructosa/efectos adversos , Fructosa/administración & dosificación , Edulcorantes/efectos adversos
19.
Artículo en Inglés | MEDLINE | ID: mdl-38956916

RESUMEN

BACKGROUND: Malabsorption syndromes are known chronic complications of bariatric surgery. Therefore, it is recommended to take oral supplementation with multivitamins. Wernicke's encephalopathy represents an acute neuropsychiatric syndrome associated with alcoholism or severe malnutrition; sporadic cases of this potential complication related to bariatric surgery are described in the literature. We present a case of Wernicke's encephalopathy due to severe vitamin B1 deficiency after bariatric surgery. CASE REPORT: A 31-year-old woman with deaf-mutism from the age of 3 years old, operated 3 months before with a mini-gastric bypass for severe obesity, was transferred to our unit after accessing the emergency room. In the immediate medical history, there was the sudden and rapid decline in vision, leading to complete loss of vision, marked asthenia, and paresthesia in the four limbs. Considering the previous bariatric surgery, the diagnosis of non-alcoholic Wernicke's syndrome was suspected, for which IV therapy with Vitamin B1 was started at a dosage of 5 vials of 200 mg in 100 cc of saline solution (three times a day for the first 72 hours, subsequently 1 once/day). After 12 hours, there was an improvement in visual acuity, and the symptoms completely resolved within 48 hours. She was discharged with complete resolution of all symptoms after 1 month. CONCLUSION: Initial vision loss without confusion or encephalopathy is one atypical presentation of Wernicke syndrome. Clinical suspicion must be high in case of alcoholism or post-bariatric surgery. Early recognition of atypical symptoms, including vision loss, and timely administration of therapy improves the prognosis of this potentially reversible but time-dependent neurological emergency.

20.
Patient Prefer Adherence ; 18: 1217-1230, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38895637

RESUMEN

Purpose: Understanding the quality of life and the factors that influence it for patients with short bowel syndrome (SBS) and their caregivers is of utmost importance in order to enhance their well-being. Therefore, This study aimed to provide a comprehensive understanding of the impact of SBS on patients and their caregivers, as well as its associated factors, by synthesizing the available evidence. Methods: A systematic review of the literature was done using PubMed, Embase databases, CNKI, and ISPOR conference papers. Included articles were manually searched to identify any other relevant studies. Quality was assessed using appropriate Joanna Briggs Institute critical appraisal tools. Results: This review included 16 studies, comprising 15 observational studies and 1 randomized controlled trial. The findings revealed that the QoL of patients with SBS was lower than that of the general population regarding physical functioning and psychological domain. Meanwhile, caregivers experienced challenges in maintaining their QoL. The QoL of SBS patients was found to be influenced by various factors such as treatment, age, sex, stoma, and small intestine length. Among them, the treatment is the most noteworthy factor that can be effectively improved through external interventions. Conclusion: While numerous studies have provided insights into the compromised QoL experienced by individuals with SBS and their caregivers, there remains a scarcity of large-sample quantitative investigations examining the determinants of QoL. The existing body of literature on caregivers is also notably deficient.

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