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1.
BMJ Paediatr Open ; 8(1)2024 Apr 11.
Artigo em Inglês | MEDLINE | ID: mdl-38604769

RESUMO

OBJECTIVE: The objective was to assess the association between nutritional and clinical characteristics and quantitative PCR (qPCR)-diagnosis of bacterial diarrhoea in a multicentre cohort of children under 2 years of age with moderate to severe diarrhoea (MSD). DESIGN: A secondary cross-sectional analysis of baseline data collected from the AntiBiotics for Children with Diarrhoea trial (NCT03130114). PATIENTS: Children with MSD (defined as >3 loose stools within 24 hours and presenting with at least one of the following: some/severe dehydration, moderate acute malnutrition (MAM) or severe stunting) enrolled in the ABCD trial and collected stool sample. STUDY PERIOD: June 2017-July 2019. INTERVENTIONS: None. MAIN OUTCOME MEASURES: Likely bacterial aetiology of diarrhoea. Secondary outcomes included specific diarrhoea aetiology. RESULTS: A total of 6692 children with MSD had qPCR results available and 28% had likely bacterial diarrhoea aetiology. Compared with children with severe stunting, children with MAM (adjusted OR (aOR) (95% CI) 1.56 (1.18 to 2.08)), some/severe dehydration (aOR (95% CI) 1.66 (1.25 to 2.22)) or both (aOR (95% CI) 2.21 (1.61 to 3.06)), had higher odds of having likely bacterial diarrhoea aetiology. Similar trends were noted for stable toxin-enterotoxigenic Escherichia coli aetiology. Clinical correlates including fever and prolonged duration of diarrhoea were not associated with likely bacterial aetiology; children with more than six stools in the previous 24 hours had higher odds of likely bacterial diarrhoea (aOR (95% CI) 1.20 (1.05 to 1.36)) compared with those with fewer stools. CONCLUSION: The presence of MAM, dehydration or high stool frequency may be helpful in identifying children with MSD who might benefit from antibiotics.


Assuntos
Infecções Bacterianas , Disenteria , Criança , Humanos , Lactente , Pré-Escolar , Desidratação/complicações , Desidratação/tratamento farmacológico , Estudos Transversais , Diarreia/complicações , Diarreia/microbiologia , Disenteria/complicações , Disenteria/tratamento farmacológico , Antibacterianos/uso terapêutico , Transtornos do Crescimento/complicações , Transtornos do Crescimento/tratamento farmacológico
2.
PLoS One ; 19(4): e0290111, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38578819

RESUMO

BACKGROUND: Undernutrition and anemia are significant public health issues among under-5 children, with potential long-term consequences for growth, development, and overall health. Thus, this study aims to conduct a bivariate binary logistic regression model by accounting for the possible dependency of childhood undernutrition and anemia. METHODS: The data came from the DHS program's measurement. A total of 3,206 under-five children were involved in this study. A single composite index measure was calculated for stunting, wasting, and underweight using principal component analysis. A bivariate binary logistic regression model is used to assess the association between undernutrition and anemia given the effect of other predictors. RESULTS: Among 3,206 under-five children considered in this study, 1482 (46.2%) and 658 (20.5%) children were agonized by anemia and undernutrition, respectively. In bivariate binary logistic regression model; Urban children [AOR = 0.751, 96% CI: 0.573-0.984; AOR = 0.663, 95% CI: 0.456-0.995] and anemic mothers [AOR = 1.160, 95% CI: 1.104-1.218; AOR = 1.663, 95% CI: 1.242-2.225] were significantly associated with both childhood anemia and undernutrition, respectively. Improved water sources [AOR = 0.681, 95% CI: 0.446-0.996], average-sized children [AOR = 0.567, 95% CI: 0.462-0.696], and diarrhea [AOR = 1.134, 95% CI: 1.120-2.792] were significantly associated with childhood anemia. Large-sized children [AOR = 0.882, 95% CI: 0.791-0.853] and those with fever [AOR = 1.152, 95% CI: 1.312-2.981] were significantly associated with under-five children's undernutrition. CONCLUSION: The prevalence of both undernutrition and anemia among under-five-year-old children was high in Rwanda. The following determinants are statistically associated with both childhood undernutrition and anemia: place of residence; source of drinking water; maternal anemia; being a twin; birth size of children; diarrhea; fever; and child age. Anemia and nutritional deficiencies must be treated concurrently under one program, with evidence-based policies aimed at vulnerable populations.


Assuntos
Anemia , Desnutrição , Criança , Feminino , Humanos , Lactente , Modelos Logísticos , Ruanda/epidemiologia , Desnutrição/complicações , Desnutrição/epidemiologia , Transtornos do Crescimento/epidemiologia , Transtornos do Crescimento/complicações , Habitação , Anemia/epidemiologia , Anemia/complicações , Prevalência , Diarreia/epidemiologia , Diarreia/complicações , Etiópia/epidemiologia
3.
BMC Pediatr ; 24(1): 203, 2024 Mar 22.
Artigo em Inglês | MEDLINE | ID: mdl-38519924

RESUMO

Langerhans cell histiocytosis (LCH) involving the gastrointestinal tract is a rare condition for which clinical experience is limited. We describe the cases of two patients who initially presented with chronic diarrhoea, hypoproteinaemia, and intermittent fever. These findings suggest that in cases of refractory diarrhoea accompanied by recurrent hypoalbuminaemia, especially with abdominal rash, LCH should be considered. Gastrointestinal endoscopy, biopsy, and imaging studies are essential for obtaining a definitive diagnosis. This approach might be helpful for the early recognition of gastrointestinal tract involvement in LCH.


Assuntos
Histiocitose de Células de Langerhans , Hipoalbuminemia , Criança , Humanos , Hipoalbuminemia/complicações , Hipoalbuminemia/patologia , Histiocitose de Células de Langerhans/complicações , Histiocitose de Células de Langerhans/diagnóstico , Histiocitose de Células de Langerhans/patologia , Trato Gastrointestinal/patologia , Biópsia , Diarreia/complicações
4.
Medicine (Baltimore) ; 103(9): e37200, 2024 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-38428848

RESUMO

RATIONALE: This article presents the case of a patient with recurrent chronic diarrhea and cachexia who was misdiagnosed, followed by a literature review to summarize the reasons for misdiagnosis of POEMS syndrome and the treatment strategies. PATIENT CONCERNS: The diagnosis and treatment of this patient suggest that with the improvement of M-protein detection levels, the diagnosis of patients with low M-protein levels, such as those with POEMS syndrome, has been greatly aided. DIAGNOSES: POEMS syndrome requires polyneuropathy and monoclonal plasma cell proliferation as mandatory diagnostic criteria. Therefore, patients presenting with polyneuropathy should routinely undergo M-protein testing and consider the possibility of POEMS syndrome. INTERVENTIONS: The patient, in this case, was treated primarily with relatively conservative immunomodulatory agents. OUTCOMES: During follow-up after treatment, the patient's diarrhea and malnutrition showed significant improvement. LESSONS SUBSECTIONS: POEMS syndrome has low clinical specificity and a high rate of misdiagnosis. However, once a definitive diagnosis is made, the treatment outcome is favorable.


Assuntos
Síndrome POEMS , Humanos , Síndrome POEMS/complicações , Síndrome POEMS/diagnóstico , Resultado do Tratamento , Erros de Diagnóstico , Diarreia/complicações
5.
Neurogastroenterol Motil ; 36(4): e14753, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38316640

RESUMO

BACKGROUND: Vitamin-D is essential for musculoskeletal health. We aimed to determine whether patients with fecal incontinence (FI): (1) are more likely to have vitamin-D deficiency and, (2) have higher rates of comorbid medical conditions. METHODS: We examined 18- to 90-year-old subjects who had 25-hydroxy vitamin-D levels, and no vitamin-D supplementation within 3 months of testing, in a large, single-institutional electronic health records dataset, between 2017 and 2022. Cox proportional hazards survival analysis was used to assess association of vitamin-D deficiency on FI. KEY RESULTS: Of 100,111 unique individuals tested for serum 25-hydroxy vitamin-D, 1205 (1.2%) had an established diagnosis of FI. Most patients with FI were female (75.9% vs. 68.7%, p = 0.0255), Caucasian (66.3% vs. 52%, p = 0.0001), and older (64.2 vs. 53.8, p < 0.0001). Smoking (6.56% vs. 2.64%, p = 0.0001) and GI comorbidities, including constipation (44.9% vs. 9.17%, p = 0.0001), irritable bowel syndrome (20.91% vs. 3.72%, p = 0.0001), and diarrhea (28.55% vs. 5.2%, p = 0.0001) were more common among FI patients. Charlson Comorbidity Index score was significantly higher in patients with FI (5.5 vs. 2.7, p < 0.0001). Significantly higher proportions of patients with FI had vitamin-D deficiency (7.14% vs. 4.45%, p < 0.0001). Moreover, after propensity-score matching, rate of new FI diagnosis was higher in patients with vitamin-D deficiency; HR 1.9 (95% CI [1.14-3.15]), p = 0.0131. CONCLUSION & INFERENCES: Patients with FI had higher rates of vitamin-D deficiency along with increased overall morbidity. Future research is needed to determine whether increased rate of FI in patients with vitamin-D deficiency is related to frailty associated with increased medical morbidities.


Assuntos
Incontinência Fecal , Síndrome do Intestino Irritável , Humanos , Feminino , Adolescente , Adulto Jovem , Adulto , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Masculino , Incontinência Fecal/complicações , Incontinência Fecal/epidemiologia , Fatores de Risco , Diarreia/complicações , Síndrome do Intestino Irritável/complicações , Vitaminas
6.
BMJ Case Rep ; 17(2)2024 Feb 17.
Artigo em Inglês | MEDLINE | ID: mdl-38367994

RESUMO

A man in his 30s presented with several months of non-bloody diarrhoea and nausea along with conjunctivitis, diffuse ichthyosis and cellulitis in the setting of progressive neck swelling. He was ultimately diagnosed with nodular sclerosing Hodgkin's lymphoma after undergoing a broad infectious, rheumatological and neoplastic workup. This represents a rare presentation of classic Hodgkin's lymphoma and demonstrates the known alteration of cellular immunity in Hodgkin's lymphoma alongside manifestations of the profound inflammatory state associated with the disease. The patient was initiated on chemotherapy and many of his symptoms resolved. Hodgkin's lymphoma may present as a multisystemic cascade of symptoms and should be high on the differential diagnosis for a patient with lymphadenopathy and associated infectious, gastrointestinal and cutaneous symptoms.


Assuntos
Doença de Hodgkin , Ictiose Vulgar , Ictiose , Linfadenopatia , Humanos , Masculino , Diarreia/complicações , Doença de Hodgkin/complicações , Doença de Hodgkin/diagnóstico , Doença de Hodgkin/tratamento farmacológico , Ictiose Vulgar/complicações , Adulto
7.
Sci Rep ; 14(1): 3791, 2024 02 15.
Artigo em Inglês | MEDLINE | ID: mdl-38360914

RESUMO

Cutaneous and cardiac involvement in neonatal lupus erythematosus (NLE) has been extensively studied; however, gastrointestinal system involvement (GSI) remains unexplored. This study aimed to investigate the clinical features of GSI in patients with NLE with a particular focus on feeding intolerance (FI) and diarrhea. We conducted a retrospective analysis of the clinical data of patients diagnosed with NLE at the Children's Hospital of Soochow University between 2011 and 2022. In this study, of 39 patients diagnosed with NLE, 27 presented with GSI. 9 patients who presented with FI or diarrhea as the primary manifestation were positive for anti-SSA antibody, and 5 were dual positive for anti-SSA and anti-SSB antibodies. Among the mothers of the NLE patients with GSI, 18 had systemic lupus erythematosus, 3 had Sjogren's syndrome, 2 had mixed connective tissue disease, and one each had autoantibody abnormalities and photosensitivity symptoms; 4 mothers denied having any autoimmune disease. In this study, 69.23% of patients with NLE exhibited GSI, which was linked to hypocomplementemia and anti-SSA antibodies. Thus, clinicians should remain vigilant for NLE in neonates, particularly when accompanied with rash and other organ dysfunction and when the high-risk factors of FI and diarrhea have been excluded.


Assuntos
Doenças do Recém-Nascido , Lúpus Eritematoso Cutâneo , Lúpus Eritematoso Sistêmico/congênito , Feminino , Criança , Humanos , Recém-Nascido , Estudos Retrospectivos , Doenças do Recém-Nascido/etiologia , Diarreia/complicações , Anticorpos Antinucleares/análise
8.
BMC Pediatr ; 24(1): 125, 2024 Feb 16.
Artigo em Inglês | MEDLINE | ID: mdl-38365626

RESUMO

INTRODUCTION: Vitamin D deficiency may increase the risk of childhood diarrhea. We aim to carry out a review and meta-analysis of the evidence relating vitamin D insufficiency to childhood diarrhea. METHODS: We searched PubMed, Ovid, Scopus, and Cochrane Library (from inception to August 2022), then independently reviewed the eligibility, and read full-text reviews for selected articles. Keywords used were 'vitamin D', '25-hydroxyvitamin D', 'vitamin D deficiency', 'diarrhea', 'gastroenteritis', 'children', and 'pediatric'. The search was limited to studies only in English and with available full-text. Year limitation was not applied in our search. Unpublished trials, dissertations, preliminary reports, conference abstracts, and repositories were excluded from the study. Newcastle-Ottawa Scale was used as the risk of bias assessment tool. Meta-analysis using the random-effects model was done. RESULTS: Out of 5,565 articles, 12 articles were included in our systematic review, however only 7 articles were eligible for meta-analysis. Meta-analysis showed a statistically significant association between vitamin D deficiency and diarrhea in children in developing countries (OR = 1.79; 95% CI = 1.15 to 2.80; p = 0.01). On the secondary outcome, the association of vitamin D deficiency and duration or recurrences of diarrhea are conflicting. CONCLUSIONS: There is an association between vitamin D deficiency and the prevalence of diarrhea. Future studies should evaluate the causal association, the impact of vitamin D deficiency on the severity of diarrhea, and whether vitamin D deficiency treatments affects the prevalence of diarrhea.


Assuntos
Gastroenterite , Deficiência de Vitamina D , Criança , Humanos , Vitamina D , Deficiência de Vitamina D/complicações , Deficiência de Vitamina D/epidemiologia , Vitaminas , Diarreia/etiologia , Diarreia/complicações , Gastroenterite/complicações , Prevalência
9.
JCO Oncol Pract ; 20(4): 503-508, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38261984

RESUMO

PURPOSE: Prophylactic anti-infective strategies are used in patients with cancer to decrease the risk for infection. Dietary restrictions do not allow raw vegetables and fresh fruits to limit the introduction of potentially harmful pathogens in the gastrointestinal tract, but the efficacy is unclear. PATIENTS AND METHODS: In this study analyzing the impact of the dietary restrictions on infectious complications, all children treated between April 2014 and March 2018 for ALL and AML or non-Hodgkin lymphoma (NHL) were included. Dietary restrictions were standard until March 2016, but were stopped in April 2016. Patients with dietary restrictions (treated April 2014-March 2016) and patients not advised for dietary restrictions (treated April 2016-March 2018) were compared regarding infectious complications, including bloodstream infection, pneumonia, diarrhea, and fever of unknown origin (FUO). RESULTS: Eighty-six patients (25 female; 62 ALL; nine AML, 15 NHL) experienced 223 infections. The 46 patients with dietary restrictions and the 40 patients without food restrictions did not significantly differ regarding the number of infections per patient, bloodstream infections, pneumonia, diarrhea, FUO, admission to intensive care, and death. CONCLUSION: Our data suggest that dietary restrictions do not affect the risk for infectious complications. Therefore, the indication of dietary restrictions should be reconsidered in pediatric patients with cancer.


Assuntos
Febre de Causa Desconhecida , Leucemia Mieloide Aguda , Pneumonia , Sepse , Humanos , Criança , Feminino , Febre de Causa Desconhecida/etiologia , Febre de Causa Desconhecida/prevenção & controle , Pneumonia/epidemiologia , Pneumonia/prevenção & controle , Pneumonia/complicações , Leucemia Mieloide Aguda/complicações , Diarreia/epidemiologia , Diarreia/complicações
10.
Neurogastroenterol Motil ; 36(3): e14744, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38287465

RESUMO

BACKGROUND: Irritable bowel syndrome (IBS) is a common gastrointestinal disorder characterized by diarrhea or constipation and other symptoms such as pain, bloating, and flatulence. The disease often has a negative effect on quality of life and is also associated with symptoms of anxiety and depression. Pharmacological treatments are not always effective, and complementary and alternative treatments are common. METHODS: We conducted a study on a group intervention based on the Ashtanga school of yoga. Fourteen participants (three men, 11 women; average age 51.4, SD = 16) were recruited from primary care, and 10 completed treatment. At pre-measurement, 4 participants had severe, 9 moderate, and 1 mild IBS, according to the IBS-SSS scale. KEY RESULTS: The intervention was regarded as credible (CEQ M = 39.2 SD = 8.8), and no serious adverse events were reported. The intervention showed significant effects on all measurements at post, as follows: IBS-SSS PRE (M = 272.0 SD = 75.5); IBS-SSS POST (M = 177.0 SD = 103.5); GSRS-IBS PRE (M = 48.4 SD = 15.9); GSRS-IBS POST (M = 37.4 SD = 12.4); VSI PRE (M = 38.8 SD = 10.0) VSI POST (M = 25.9 SD = 10.1); PHQ12 PRE (M = 10.0 SD = 4.3); PHQ12 POST (M = 6.9 SD = 4.3); HADS anxiety PRE (M = 8.9 SD = 5.0) HADS anxiety POST (M = 5.7 SD = 3.3) HADS depression PRE (M = 5.6 SD = 3.2) HADS depression POST (M = 3.8 SD = 2.9) IBS-QOL PRE (M = 64.5 SD = 12.5) IBS-QOL POST (M = 72.3 SD = 10.0). The effects were maintained at follow-up, except for general anxiety and depression. Preliminary effects at 3-month follow-up were in the moderate to large range for main outcomes. CONCLUSION & INFERENCES: A 10-week group Ashtanga intervention was a feasible intervention for participants with IBS. Preliminary effects were promising and should be explored further in a randomized trial.


Assuntos
Síndrome do Intestino Irritável , Masculino , Humanos , Feminino , Pessoa de Meia-Idade , Síndrome do Intestino Irritável/terapia , Síndrome do Intestino Irritável/complicações , Qualidade de Vida , Estudos de Viabilidade , Diarreia/complicações , Flatulência , Atenção Primária à Saúde
11.
Toxicology ; 502: 153728, 2024 02.
Artigo em Inglês | MEDLINE | ID: mdl-38216112

RESUMO

Cold drink and high-fat diet (CDHFD) are common diet patterns. However, the potential risks remain unclear. We investigated the effects of CDHFD in adult mice and explored the mechanisms of action. Twenty adult male mice were randomly divided into control and model groups, and the control group was fed a normal diet, whereas the model group was fed CDHFD for 28 days. We found that mice in the model group developed diarrhea symptoms accompanied by fatigue and weakness. Analysis of the intestinal flora revealed that the model group had a lower diversity and richness of microorganism species in the gut than the control group. Furthermore, the characteristic analysis indicated that CDHFD downregulated specific bacteria, such as norank_f_Muribaculaceae, Muribaculum, and Odoribacter, which are known to be associated with the systemic inflammatory response and mucosal barrier function. Blood tests showed that immune cells and inflammatory cytokines were significantly elevated in the model group, along with increased LPS induced by CDHFD. Pathological investigations demonstrated that CDHFD damages the intestinal mucosa while affecting the expression of tight junction proteins, including ZO-1, Claudin-1, Claudin-2, and Occludin, which may be attributed to the activation of the TRAF6/IκB/p65 signaling pathway. In conclusion, impaired gut microbial and mechanical barrier function is responsible for CDHFD-induced diarrhea. In this study, we constructed a model of diet-induced diarrhea by simulating human dietary patterns, evaluated the long-term effects of CDHFD on human intestinal barriers and immune systems, and revealed its mechanism of action based on chronic inflammation. This study validated the model's fit to provide an effective screening model for drug or functional food development.


Assuntos
Microbioma Gastrointestinal , Masculino , Humanos , Camundongos , Animais , Disbiose/metabolismo , Dieta Hiperlipídica/efeitos adversos , Diarreia/complicações , Diarreia/metabolismo , Mucosa Intestinal/metabolismo , Inflamação/metabolismo , Camundongos Endogâmicos C57BL
12.
Pediatr Nephrol ; 39(3): 867-877, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37676500

RESUMO

BACKGROUND: Data on the characteristics of acute kidney injury (AKI) in pediatric COVID-19 and MIS-C are limited. We aimed to define the frequency, associated factors and early outcome of AKI in moderate, severe or critical COVID-19 and MIS-C; and to present a tertiary referral center experience from Türkiye. METHODS: Hospitalized patients ≤ 18 years of age with confirmed COVID-19 or MIS-C at Ihsan Dogramaci Children's Hospital, Hacettepe University, between March 2020-December 2021 were enrolled. The characteristics of AKI in the COVID-19 group were investigated in moderate, severe and critically ill patients; patients with mild COVID-19 were excluded. RESULTS: The median (Q1-Q3) age in the COVID-19 (n = 66) and MIS-C (n = 111) groups was 10.7 years (3.9-15.2) and 8.7 years (4.5-12.7), respectively. The frequency of AKI was 22.7% (15/66) in COVID-19 and 15.3% (17/111) in MIS-C; all MIS-C patients with AKI and 73.3% (11/15) of COVID-19 patients with AKI had AKI at the time of admission. Multivariate analyses revealed need for vasoactive/inotropic agents [Odds ratio (OR) 19.233, p = 0.002] and presence of vomiting and/or diarrhea (OR 4.465, p = 0.036) as independent risk factors of AKI in COVID-19 patients; and need for vasoactive/inotropic agents (OR 22.542, p = 0.020), procalcitonin and ferritin levels as independent risk factors of AKI in the MIS-C group. Age was correlated with lymphocyte count (r = -0.513, p < 0.001) and troponin level (r = 0.518, p < 0.001) in MIS-C patients. Length of hospital stay was significantly longer in both groups with AKI, compared to those without AKI. Mortality was 9.1% in the COVID-19 group; and was associated with AKI (p = 0.021). There was no mortality in MIS-C patients. AKI recovery at discharge was 63.6% in COVID-19 survivors and 100% in MIS-C patients. CONCLUSIONS: Independent risk factors for AKI were need for vasoactive/inotropic agents and vomiting/diarrhea in moderate, severe or critical COVID-19 patients; and need for vasoactive/inotropic agents and severe inflammation in MIS-C patients. Our findings suggest that inflammation and cardiac dysfunction are associated with AKI in MIS-C patients; and the association with age in this group merits further studies in larger groups. Early outcome is favorable; long-term follow-up for kidney functions is needed.


Assuntos
Injúria Renal Aguda , COVID-19 , Síndrome de Resposta Inflamatória Sistêmica , Humanos , Criança , COVID-19/complicações , Injúria Renal Aguda/epidemiologia , Injúria Renal Aguda/etiologia , Inflamação , Encaminhamento e Consulta , Diarreia/complicações , Vômito , Estudos Retrospectivos
13.
Am J Med Genet B Neuropsychiatr Genet ; 195(1): e32952, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37455590

RESUMO

Children with autism spectrum disorder (ASD) have a greater prevalence of gastrointestinal (GI) symptoms than children without ASD. We tested whether polygenic scores for each of three GI disorders (ulcerative colitis, inflammatory bowel disease, and Crohn's disease) were related to GI symptoms in children with and without ASD. Using genotyping data (564 ASD cases and 715 controls) and external genome-wide association study summary statistics, we computed GI polygenic scores for ulcerative colitis (UC-PGS), inflammatory bowel disease (IDB-PGS), and Crohn's disease (CD-PGS). Multivariable logistic regression models, adjusted for genetic ancestry, were used to estimate associations between each GI-PGS and (1) ASD case-control status, and (2) specific GI symptoms in neurotypical children and separately in ASD children. In children without ASD, polygenic scores for ulcerative colitis were significantly associated with experiencing any GI symptom (adjusted odds ratio (aOR) = 1.36, 95% confidence interval (CI) = 1.03-1.81, p = 0.03) and diarrhea specifically (aOR = 5.35, 95% CI = 1.77-26.20, p = 0.01). Among children without ASD, IBD-PGS, and Crohn's PGS were significantly associated with diarrhea (aOR = 3.55, 95% CI = 1.25-12.34, p = 0.02) and loose stools alternating with constipation (aOR = 2.57, 95% CI = 1.13-6.55, p = 0.03), respectively. However, the three PGS were not associated with GI symptoms in the ASD case group. Furthermore, polygenic scores for ulcerative colitis significantly interacted with ASD status on presentation of any GI symptom within a European ancestry subset (aOR = 0.42, 95% CI = 0.19-0.88, p = 0.02). Genetic risk factors for some GI symptoms differ between children with and without ASD. Furthermore, our finding that increased genetic risks for GI inflammatory disorders are associated with GI symptoms in children without ASD informs future work on the early detection of GI disorders.


Assuntos
Transtorno do Espectro Autista , Transtorno Autístico , Colite Ulcerativa , Doença de Crohn , Gastroenteropatias , Doenças Inflamatórias Intestinais , Criança , Humanos , Doença de Crohn/complicações , Doença de Crohn/genética , Transtorno do Espectro Autista/genética , Transtorno do Espectro Autista/diagnóstico , Colite Ulcerativa/complicações , Colite Ulcerativa/genética , Estudo de Associação Genômica Ampla , Gastroenteropatias/complicações , Gastroenteropatias/genética , Gastroenteropatias/diagnóstico , Diarreia/complicações , Diarreia/genética , Diarreia/diagnóstico , Doenças Inflamatórias Intestinais/complicações , Doenças Inflamatórias Intestinais/genética , Inflamação/complicações
14.
J Diabetes Investig ; 15(1): 121-130, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37737534

RESUMO

AIMS: HNF1B syndrome is caused by defects in the hepatocyte nuclear factor 1B (HNF1B) gene, which leads to maturity-onset diabetes of the young type 5 and congenital organ malformations. This study aimed to identify a gene defect in a patient presenting with diabetes and severe diarrhea, while also analyzing the prevalence of hypomagnesemia and its correlation with the HNF1B genotype. MATERIALS AND METHODS: Whole exome sequencing was used to identify responsible point mutations and small indels in the proband and their family members. Multiplex ligation-dependent probe amplification was carried out to identify HNF1B deletions. Furthermore, an analysis of published data on 539 cumulative HNF1B cases, from 29 literature sources, was carried out to determine the correlation between the HNF1B genotype and the phenotype of serum magnesium status. RESULTS: Using multiplex ligation-dependent probe amplification, we identified a de novo heterozygous HNF1B deletion in the patient, who showed dorsal pancreas agenesis and multiple kidney cysts, as detected by magnetic resonance imaging. Magnesium supplementation effectively alleviated the symptoms of diarrhea. Hypomagnesemia was highly prevalent in 192 out of 354 (54.2%) patients with HNF1B syndrome. Compared with patients with intragenic mutations, those with HNF1B deletions were more likely to suffer from hypomagnesemia, with an odds ratio of 3.1 (95% confidence interval 1.8-5.4). CONCLUSIONS: Hypomagnesemia is highly prevalent in individuals with HNF1B syndrome, and those with HNF1B deletion are more susceptible to developing hypomagnesemia compared with those with intragenic mutations. The genotype-phenotype associations in HNF1B syndrome have significant implications for endocrinologists in terms of genotype detection, treatment decisions and prognosis assessment.


Assuntos
Diabetes Mellitus Tipo 2 , Magnésio , Humanos , Diabetes Mellitus Tipo 2/complicações , Diarreia/complicações , Fator 1-beta Nuclear de Hepatócito/genética , Mutação , Síndrome
15.
Nutrition ; 117: 112254, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37924624

RESUMO

OBJECTIVES: A starch- and sucrose-reduced diet has been found to improve gastrointestinal and extraintestinal symptoms in irritable bowel syndrome, as well as reduce weight and improve psychological well-being. Our hypothesis was that a starch- and sucrose-reduced diet would also be beneficial in other conditions with similar symptoms. The aim of the present research letter was to describe the role of a starch- and sucrose-reduced diet in a pilot project in patients with diarrhea having varying causes. METHODS: One man, age 36 y, suffering from functional diarrhea and one woman, 56 y, suffering from microscopic colitis, were randomized to a starch- and sucrose-reduced diet for 4 wk. At baseline, dietary information was given, and blood samples collected. Weight and waist circumference were measured. The participants completed the irritable bowel syndrome severity scoring system for evaluating specific gastrointestinal and extraintestinal symptoms and visual analog scale for irritable bowel syndrome for evaluation of specific gastrointestinal symptoms and psychological well-being. The degrees of satiety and sweet craving were measured on visual analog scales. After 4 wk, all procedures were repeated. RESULTS: Weight, body mass index, and waist circumference were decreased during the intervention. The total amount of gastrointestinal symptoms was decreased in the participants with functional diarrhea, and diarrhea and bloating were decreased in both participants. Both had reduced extraintestinal symptoms and improved psychological well-being. Blood levels had mainly unchanged or slightly increased values of measurements reflecting nutrient intake. CONCLUSIONS: A starch- and sucrose-reduced diet may lead to weight reduction, reduced symptoms, and improved well-being in several patient categories, not only in patients suffering from irritable bowel syndrome. Future randomized trials should be done.


Assuntos
Gastroenteropatias , Síndrome do Intestino Irritável , Masculino , Feminino , Humanos , Adulto , Sacarose , Amido , Projetos Piloto , Diarreia/complicações , Dieta , Gastroenteropatias/etiologia
16.
Clin Exp Rheumatol ; 42(2): 386-393, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38153137

RESUMO

OBJECTIVES: To determine the efficacy and safety of nintedanib in patients with anti-melanoma differentiation-associated gene 5 antibody positive dermatomyositis-associated interstitial lung disease (anti-MDA5+ DM-ILD). METHODS: The study was a retrospective cohort design that evaluated patients with anti-MDA5+ DM who either received or did not receive nintedanib. Clinical symptoms, laboratory tests, and survival were compared in the two groups using a propensity score-matched analysis. The primary endpoint was mortality, while adverse events were recorded descriptively. RESULTS: After propensity score matching, 14 patients who received nintedanib (nintedanib+ group) and matched 56 patients who did not receive nintedanib (nintedanib- group) were enrolled. Compared with the nintedanib- group, the nintedanib+ group had a lower incidence of heliotrope and arthritis, higher lymphocyte counts, lower serum ferritin levels, and greater 12-month survival (all p<0.005). Although lung function, HRCT score, and lung VAS were not statistically different between the two groups, the longitudinal study showed significant improvement in HRCT scores (p=0.028) and pulmonary VAS (p=0.019) in the nintedanib+ group. Adverse events occurred in 28.6% of patients, with the most common adverse event with nintedanib being diarrhoea. CONCLUSIONS: Nintedanib may be effective for improving clinical symptoms, laboratory parameters, lung lesions, and survival in anti-MDA5+ DM. Diarrhoea was the most common adverse event associated with nintedanib, although the drug was well tolerated by most patients.


Assuntos
Dermatomiosite , Indóis , Doenças Pulmonares Intersticiais , Humanos , Prognóstico , Dermatomiosite/complicações , Dermatomiosite/tratamento farmacológico , Dermatomiosite/diagnóstico , Estudos Retrospectivos , Progressão da Doença , Estudos Longitudinais , Helicase IFIH1 Induzida por Interferon , Autoanticorpos , Doenças Pulmonares Intersticiais/etiologia , Doenças Pulmonares Intersticiais/complicações , Diarreia/complicações
17.
Zhonghua Er Ke Za Zhi ; 62(1): 60-65, 2024 Jan 02.
Artigo em Chinês | MEDLINE | ID: mdl-38154979

RESUMO

Objective: To analyze the clinical features,treatment and prognosis of drug induced hypersensitivity syndrome related hemophagocytic lymphohistiocytosis (DIHS-HLH). Methods: This was a retrospective case study. Clinical characteristics, laboratory results, treatment and prognosis of 9 patients diagnosed with DIHS-HLH in Beijing Children's hospital between January 2020 and December 2022 were summarized. Kaplan-Meier survival analysis was used to calculate the overall survival rate. Results: Among all 9 cases, there were 6 males and 3 females, with the age ranged from 0.8 to 3.1 years. All patients had fever, rash, hepatomegaly and multiple lymph node enlargement. Other manifestations included splenomegaly (4 cases), pulmonary imaging abnormalities (6 cases), central nervous system symptoms (3 cases), and watery diarrhea (3 cases). Most patients showed high levels of soluble-CD25 (8 cases), hepatic dysfunction (7 cases) and hyperferritinemia (7 cases). Other laboratory abnormalities included hemophagocytosis in bone marrow (5 cases), hypofibrinogenemia (3 cases) and hypertriglyceridemia (2 cases). Ascending levels of interleukin (IL) 5, IL-8 and interferon-γ (IFN-γ) were detected in more than 6 patients. All patients received high dose intravenous immunoglobulin, corticosteroid and ruxolitinib, among which 4 patients were also treated with high dose methylprednisolone, 2 patients with etoposide and 2 patients with cyclosporin A. After following up for 0.2-38.6 months, 7 patients survived, and the 1-year overall survival rate was (78±14)%. Two patients who had no response to high dose immunoglobulin, methylprednisolone 2 mg/(kg·d) and ruxolitinib died. Watery diarrhea, increased levels of IL-5 and IL-8 and decreased IgM were more frequently in patients who did not survive. Conclusions: For children with fever, rash and a suspicious medication history, when complicated with hepatomegaly, impaired liver function and high levels of IL-5 and IL-8, DIHS-HLH should be considered. Once diagnosed with DIHS-HLH, suspicious drugs should be stopped immediately, and high dose intravenous immunoglobulin, corticosteroid and ruxolitinib could be used to control disease.


Assuntos
Exantema , Linfo-Histiocitose Hemofagocítica , Criança , Masculino , Feminino , Humanos , Lactente , Pré-Escolar , Linfo-Histiocitose Hemofagocítica/etiologia , Linfo-Histiocitose Hemofagocítica/complicações , Estudos Retrospectivos , Interleucina-5 , Hepatomegalia/complicações , Imunoglobulinas Intravenosas/efeitos adversos , Interleucina-8 , Metilprednisolona , Corticosteroides , Diarreia/complicações , Exantema/complicações
18.
BMC Prim Care ; 24(1): 267, 2023 12 13.
Artigo em Inglês | MEDLINE | ID: mdl-38087210

RESUMO

BACKGROUND: Shigellosis is an acute diarrheal disease transmitted through contaminated food, water, objects, poor hand hygiene, or sexual activity. Healthcare providers (HCP) may not be aware of the multiple routes of Shigella transmission, populations at increased risk, or importance of antibiotic susceptibility testing (AST). This study assessed HCP knowledge and clinical practices regarding shigellosis and antibiotic resistance. METHODS: Porter Novelli Public Services administered a web-based survey (Fall DocStyles 2020) to HCP in the United States. Pediatricians, primary care physicians, nurse practitioners, and physician assistants completed questions about knowledge and clinical practice of acute diarrhea and shigellosis. RESULTS: Of 2196 HCP contacted, 1503 responded (68% response rate). Most identified contaminated food (85%) and water (79%) as routes of Shigella transmission; fewer recognized person-to-person contact (40%) and sexual activity (18%). Men who have sex with men (MSM) were identified as being at risk for shigellosis by 35% of respondents. Most reported counseling patients to wash hands (86%) and avoid food preparation (77%) when ill with shigellosis; 29% reported recommending avoiding sex. Many HCP reported treating shigellosis empirically with ciprofloxacin (62%) and azithromycin (32%), and 29% reported using AST to guide treatment. CONCLUSIONS: We identified several gaps in shigellosis knowledge among HCP including MSM as a risk group, person-to-person transmission, and appropriate antibiotic use. Improving HCP education could prevent the spread of shigellosis, including drug-resistant infections, among vulnerable populations.


Assuntos
Anti-Infecciosos , Disenteria Bacilar , Minorias Sexuais e de Gênero , Shigella , Masculino , Humanos , Estados Unidos/epidemiologia , Disenteria Bacilar/tratamento farmacológico , Disenteria Bacilar/epidemiologia , Disenteria Bacilar/prevenção & controle , Homossexualidade Masculina , Antibacterianos/uso terapêutico , Diarreia/complicações , Diarreia/tratamento farmacológico , Anti-Infecciosos/uso terapêutico , Água
19.
Ter Arkh ; 95(8): 627-633, 2023 Oct 11.
Artigo em Russo | MEDLINE | ID: mdl-38158896

RESUMO

BACKGROUND: Stress, individual characteristics of each patient, visceral hypersensitivity and intestinal motility have the key importance in the pathogenesis of irritable bowel syndrome (IBS). In recent years, there has been growing interest in the use of selective serotonin and norepinephrine reuptake inhibitors (SNRIs) in the complex therapy of IBS patients with somatoform disorders. AIM: To examine the effectiveness of the SNRIs antidepressant therapy in the treatment of patients with IBS and diarrhea (IBS-D) with extraintestinal manifestations. MATERIALS AND METHODS: 42 patients with severe IBS and diarrhea (IBS-D) were examined, among them 22 female with a median age of 32 years old (22; 38), and 20 male with a median age of 31 years old (25; 35). Treatment with duloxetine 60 mg/day was prescribed. The effectiveness of the therapy was assessed after eight weeks. The IBS clinical symptoms dynamics were assessed by the intensity of pain syndrome and bloating, which were determined using Visual Analogue Pain Scale (VAS), stool frequency and shape based on the Bristol stool scale; Visceral sensitivity threshold was assessed according to the Balloon dilatation test. There was studied the effect of the duloxetine on the extraintestinal manifestations of IBS. The psycho-emotional state was assessed using the Beck scale of anxiety and depression and the Spielberger-Khanin scale by psychiatrist, neurologist-vegetol. RESULTS: All patients showed positive dynamics after eight weeks duloxetine treatment: the decrease of pain syndrome from 9 (9; 10) to 2 (2; 3) points, bloating from 8 (8; 9) points to 2,5 (1; 3) points according to VAS, and defecation frequency from 10 (9; 12) to 2 (1; 2) times a day; the change of stool consistency from 6th (6; 7) to 3rd (3; 4) type. The visceral sensitivity threshold increased: the time of appearance of the first urge to defecate increased from 56 (34; 74) ml to 95 (80; 98) ml. Significantly decreased extraintestinal manifestations of IBS. In reassessing each patient's individual characteristics there were the decrease of the depression level according to the Beck scale from 26 (23; 32) to 11.5 (10; 13) points and personal personal anxiety level according to the Spielberger-Khanin scale from 42.5 (35; 53) to 22 (20; 24) points, as well as the decrease of situational anxiety from 40 (37; 49) to 22 (21; 36) points. CONCLUSION: The severe course of IBS-D is mainly associated with the patients' individual characteristics and anxiety or anxiety-depressive syndromes. The positive impact of duloxetine therapy in severe IBS-D with extraintestinal manifestations is associated with the regulation of serotonergic and noradrenergic activity of the central.


Assuntos
Síndrome do Intestino Irritável , Inibidores da Recaptação de Serotonina e Norepinefrina , Humanos , Masculino , Feminino , Adulto , Síndrome do Intestino Irritável/diagnóstico , Síndrome do Intestino Irritável/tratamento farmacológico , Síndrome do Intestino Irritável/complicações , Cloridrato de Duloxetina , Diarreia/complicações , Dor
20.
Recenti Prog Med ; 114(12): 749-754, 2023 Dec.
Artigo em Italiano | MEDLINE | ID: mdl-38031858

RESUMO

A healthy 9-years-old boy was brought to the Emergency Department for widespread abdominal pain associated with bloody diarrhoea and significant tenesmus, in the absence of fever. Blood tests were compatible with an acute gastroenteritis, even though microbiological tests on stools resulted negative. Given the haemorrhagic dysentery, the boy was hospitalized to start empiric antibiotic therapy and intravenous rehydration. Abdominal ultrasound showed a thickening of colonic walls, mimicking an inflammatory intestinal disease at the onset (subsequently denied by gastro-colonoscopy). Seven days after the onset of symptoms, blood tests revealed microangiopathic anaemia with negative Coombs test, associated with thrombocytopenia. Urine dipstick revealed haematuria and proteinuria in nephritic range. No contraction of diuresis or alteration of renal function were observed (being creatinine values always within the normal range). Laboratory tests were consistent with the diagnosis of Haemolytic Uremic Syndrome (Hus) at the onset. Approximately 1% of paediatric patients with bloody diarrhoea can develop Hus. Positivity for Escherichia coli is not always evident in the stools. Thus, the triad of haemolytic anaemia, thrombocytopenia and renal failure could be present in only 60% of Hus at the onset. The finding of haematuria and/or proteinuria on the urine dipstick may be indicative of early kidney damage, allowing for careful monitoring and a rehydration program that can prevent progression of kidney damage and extrarenal complications.


Assuntos
Síndrome Hemolítico-Urêmica , Trombocitopenia , Masculino , Humanos , Criança , Hematúria/complicações , Síndrome Hemolítico-Urêmica/complicações , Síndrome Hemolítico-Urêmica/diagnóstico , Síndrome Hemolítico-Urêmica/terapia , Diarreia/complicações , Diarreia/terapia , Trombocitopenia/complicações , Hemorragia Gastrointestinal/etiologia , Proteinúria/complicações , Rim
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