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1.
Artículo en Inglés | MEDLINE | ID: mdl-34282806

RESUMEN

BACKGROUND: Acromegaly is a disorder associated with hypersecretion of growth hormone, most usually caused by a pituitary adenoma. Dysmotility of the gastrointestinal tract has been reported in acromegalic patients. Achalasia is a disorder characterized by aperistalsis of the oesophagus with incomplete lower oesophageal sphincter relaxation and whose aetiology remains unknown. Mutations in some genes have previously been associated with the development of acromegaly or achalasia. The study aims were to analyse mutations in selected genes in a woman having both of these diseases, to identify their aetiological factors, and to suggest explanations for the co-incidence of acromegaly and achalasia. METHODS AND RESULTS: A female patient with acromegaly, achalasia, and a multinodular thyroid gland with hyperplastic colloid nodules underwent successful treatment of achalasia via laparoscopic Heller myotomy, a thyroidectomy was performed, and the pituitary macroadenoma was surgically excised via transnasal endoscopic extirpation. Germline DNA from the leukocytes was analysed by sequencing methods for a panel of genes. No pathogenic mutation in AAAS, AIP, MEN1, CDKN1B, PRKAR1A, SDHB, GPR101, and GNAS genes was found in germline DNA. The somatic mutation c.601C>T/p.R201C in the GNAS gene was identified in DNA extracted from a tissue sample of the pituitary macroadenoma. CONCLUSIONS: We here describe the first case report to our knowledge of a patient with both acromegaly and achalasia. Association of acromegaly and soft muscle tissue hypertrophy may contribute to achalasia's development. If one of these diagnoses is determined, the other also should be considered along with increased risk of oesophageal and colorectal malignancy.


Asunto(s)
Acromegalia , Acalasia del Esófago , Neoplasias Hipofisarias , Acromegalia/complicaciones , Acromegalia/genética , ADN , Acalasia del Esófago/complicaciones , Acalasia del Esófago/genética , Femenino , Humanos , Incidencia , Neoplasias Hipofisarias/genética
2.
J Crohns Colitis ; 14(3): 361-368, 2020 Mar 13.
Artículo en Inglés | MEDLINE | ID: mdl-31501878

RESUMEN

BACKGROUND AND AIMS: The pathogenesis and risk factors for early postoperative endoscopic recurrence of Crohn's disease [CD] remain unclear. Thus, this study aimed to identify whether histological inflammation at the resection margins after an ileocaecal resection influences endoscopic recurrence. METHODS: We have prospectively followed up patients with CD who underwent ileocaecal resection at our hospital between January 2012 and January 2018. The specimens were histologically analysed for inflammation at both of the resection margins [ileal and colonic]. We evaluated whether histological results of the resection margins are correlated with endoscopic recurrence of CD based on colonoscopy 6 months after ileocaecal resection. Second, we assessed the influence of known risk factors and preoperative therapy on endoscopic recurrence of CD. RESULTS: A total of 107 patients were included in our study. Six months after ileocaecal resection, 23 patients [21.5%] had an endoscopic recurrence of CD. The histological signs of CD at the resection margins were associated with a higher endoscopic recurrence [56.5% versus 4.8%, p < 0.001]. Disease duration from diagnosis to surgery [p = 0.006] and the length of the resected bowel [p = 0.019] were significantly longer in patients with endoscopic recurrence. Smoking was also proved to be a risk factor for endoscopic recurrence [p = 0.028]. CONCLUSIONS: Histological inflammation at the resection margins was significantly associated with a higher risk of early postoperative endoscopic recurrence after an ileocaecal resection for CD.


Asunto(s)
Enfermedad de Crohn , Procedimientos Quirúrgicos del Sistema Digestivo/efectos adversos , Endoscopía del Sistema Digestivo , Complicaciones Posoperatorias , Herida Quirúrgica/inmunología , Anastomosis Quirúrgica/efectos adversos , Enfermedad de Crohn/diagnóstico , Enfermedad de Crohn/epidemiología , Enfermedad de Crohn/inmunología , Enfermedad de Crohn/cirugía , República Checa/epidemiología , Procedimientos Quirúrgicos del Sistema Digestivo/métodos , Disección , Endoscopía del Sistema Digestivo/métodos , Endoscopía del Sistema Digestivo/estadística & datos numéricos , Femenino , Estudios de Seguimiento , Humanos , Válvula Ileocecal/patología , Válvula Ileocecal/cirugía , Inflamación/patología , Masculino , Persona de Mediana Edad , Complicaciones Posoperatorias/diagnóstico por imagen , Complicaciones Posoperatorias/inmunología , Complicaciones Posoperatorias/patología , Recurrencia , Factores de Riesgo
3.
ACS Omega ; 4(4): 7128-7139, 2019 Apr 30.
Artículo en Inglés | MEDLINE | ID: mdl-31459822

RESUMEN

Polyaniline (PANI) and 2,5-dianilino-p-benzoquinone both are formed by oxidation of aniline in an acidic aqueous environment. The aim of this study is to understand the impact of addition of p-benzoquinone on the structure of PANI prepared by the oxidation of aniline hydrochloride with ammonium peroxydisulfate and to elucidate the formation of low-molecular-weight byproducts. An increasing yield and size-exclusion chromatography, Fourier-transform infrared spectroscopy (FTIR), X-ray photoelectron spectroscopy, and nuclear magnetic resonance analyses of the products show that p-benzoquinone does not act as a terminating agent in the synthesis of PANI and the content of 2,5-dianilino-p-benzoquinone increases with the increasing molar concentration of p-benzoquinone in the reaction mixture, [BzQ]. Regarding the structure of PANI, Raman and UV-visible spectra show that the doping level and the charge delocalization both decrease with the increase of [BzQ], and the FTIR spectra of the PANI bases indicate an increased concentration of benzenoid units at higher [BzQ]. We explain these observations by an increasing concentration of structural defects in PANI chains and propose a 2,5-dianilino-p-benzoquinone-like structure of these defects present as pendant groups. The bands typical of 2,5-dianilino-p-benzoquinone-like moiety are observed even in the vibrational spectra of the sample prepared without addition of p-benzoquinone. This confirms in situ oxidation of aniline to p-benzoquinone within the course of the oxidation of aniline hydrochloride to PANI.

4.
J Minim Access Surg ; 15(1): 46-50, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-29595182

RESUMEN

BACKGROUND: Anastomotic leaks after oesophagectomy with tabularised stomach replacement are a significant factor in post-operative mortality and morbidity. Early detection and treatment of this complication allow for improving operative and oncological results. When assessing laboratory values - elevation of inflammatory parameters - complicated interpretation is an issue (systemic inflammatory response syndrome, surgical versus non-surgical complication). Results studying the relationship between C-reactive protein (CRP) and complications following oesophagectomies are inconsistent. The aim of our work was to find relationships between the development of post-operative CRP values and the occurrence of anastomotic complications following minimally invasive oesophagectomy (MIE). MATERIALS AND METHODS: Analysis of the relationship between CRP values and the occurrence of anastomotic complications or the necessity of reoperation following oesophagectomy with tabularised stomach replacement and cervical anastomosis performed using thoracoscopy and laparoscopy in a group of patients operated on for malignancies at our department between 2012 and 2015. RESULTS: A significant difference was found in average CRP values on the 5th day and 7th day following operation between patients with and without leaks (233 mg/l vs. 122.8 mg/l P = 0.003, respectively 208.9 mg/l vs. 121.3 mg/l P = 0.014). However, on the 5th day, the leak was clinically apparent only in one case out of 11 leaks. A significant difference in CRP values on the 5th day was found between patients who needed revision surgery and patients without revision surgery (294 mg/l vs. 133.5 mg/l P = 0.01). CONCLUSIONS: Patients after MIE with tabularised stomach replacement and cervical anastomosis complicated by anastomotic leaks or with the necessity for reoperation had a significantly higher CRP values on the 5th day following operation than patients without complications, regardless of the presence of clinical signs of leaks.

5.
Vnitr Lek ; 64(4): 347-354, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-29791168

RESUMEN

INTRODUCTION: Crohns disease (CD) belongs to chronic diseases that highly affect the patient´s quality of life (QoL). The effect of the disease and impairment of QoL in CD patients is already known. The aim was to assess how surgical treatment influences the patients QoL and determine factors that can affect postoperative QoL. METHODS AND PATIENTS: We compared the QoL before and after surgery in patients who had undergone a bowel resection at our department due to CD between 2010-2016. The patients filled in a standardized QLQ-CR29 questionnaire to assess QoL in the preoperative period and the postoperative period after a 2-month interval. The control groups were CD patients who had not undergone surgical treatment (bowel resection) and a healthy cohort. In the QoL evaluation, 132 patients with CD who had undergone surgery (bowel resection), 83 patients with CD without an operation and 104 healthy subjects were enrolled. RESULTS: 104 of the operated patients experienced a postoperative improvement of the overall QoL (78.8 %), 2 patients did not register any changes in QoL (1.5 %) and 26 patients (19.7 %) experienced a worsening of their postoperative QoL. The results were statistically significant (p < 0.001). CONCLUSION: We detected a significant improvement of the overall QoL after surgical resection in CD patients (measured 2 months after surgery). Gender was identified as the only statistically relevant factor with influence on postoperative QoL.Key words: bowel resection - Crohn´s disease - Czech cohort - inflammatory bowel disease - quality of life - surgical treatment.


Asunto(s)
Enfermedad de Crohn , Calidad de Vida , Enfermedad de Crohn/cirugía , República Checa , Humanos , Encuestas y Cuestionarios
6.
Vnitr Lek ; 60(7-8): 617-23, 2014.
Artículo en Checo | MEDLINE | ID: mdl-25130639

RESUMEN

Surgery of Crohns disease is an important part of the general treatment algorithm. The role of surgery is changing with the development of conservative procedures. The recent years have seen the return to early treatment of patients with Crohns disease. Given the character of the disease and its intestinal symptoms, a specific approach to these patients is necessary, especially regarding the correct choice of surgery. The paper focuses on the luminal damage of the small and large intestine including complications of the disease. We describe the individual indications for a surgical solution, including the choice of anastomosis or multiple / repeated surgeries.


Asunto(s)
Enfermedad de Crohn/cirugía , Algoritmos , Enfermedad de Crohn/diagnóstico , Humanos , Reoperación
7.
Hum Immunol ; 74(9): 1161-9, 2013 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-23806268

RESUMEN

OBJECTIVES: Gastroesophageal reflux (GERD) is a one of the major public health problem that can lead to reflux esophagitis (RE), Barrett's esophagus (BE), and esophageal adenocarcinoma (EAC). The aim of our study was to determine the impact of IL-1 gene polymorphisms on the development of GERD, RE and BE. METHODS: Three hundred and thirty-three Czech patients with gastroesophageal reflux and 165 healthy controls were included in this case-control study. Four polymorphisms in the genes of the IL-1 cluster [IL-1A(-889C/T), IL-1B(-511C/T), IL-1B(+3953C/T), and IL-1RN(VNTR)] were analyzed. RESULTS: Significant differences were found in IL-1RN 1/2 genotype between patients with GERD/RE and controls and in IL-1B+3953 T allele between patients with BE and healthy subjects. In addition, complex analysis revealed differences in IL-1 haplotype frequencies between the groups. Specifically, the haplotype TCCL was significantly more frequent (p = 0.016) in GERD patients than in controls and the haplotype CCCL more frequent (p = 0.008) in RE patients than in controls. However, in patients with BE, frequency of haplotype TCTL was lower (p = 0.05) and haplotypes CTCL and TCCL were higher (p = 0.03 and p = 0.02) in comparison with the controls. CONCLUSIONS: Our results suggest that IL-1 haplotypes may be associated with susceptibility to GERD, RE and BE.


Asunto(s)
Esófago de Barrett/genética , Reflujo Gastroesofágico/genética , Interleucina-1/genética , Adulto , Animales , Esófago de Barrett/inmunología , Estudios de Casos y Controles , República Checa , Femenino , Reflujo Gastroesofágico/inmunología , Frecuencia de los Genes , Estudios de Asociación Genética , Genotipo , Haplotipos , Humanos , Masculino , Persona de Mediana Edad , Familia de Multigenes/inmunología
8.
J Hum Genet ; 52(6): 527-534, 2007.
Artículo en Inglés | MEDLINE | ID: mdl-17476458

RESUMEN

Reflux esophagitis (RE) and Barrett's esophagus (BE) belong to the most common esophageal complications of gastroesophageal reflux disease. Glutathione S-transferase (GST) enzymes play an important role in cellular protection against oxidative stress and toxic foreign chemicals. Therefore, we investigated the hypothesis that polymorphisms in genes for these detoxifying enzymes could influence susceptibility to RE and BE. GSTM1, GSTT1 and GSTP1 loci were analyzed by PCR-based methods in 64 patients with RE (and an additional group of 22 subjects with BE as the fourth grade of esophagitis) and 173 unrelated controls. There were no significant differences in the distributions of GSTM1 and GSTT1 genotypes between the controls and patients with RE or BE. Similarly, frequencies of GSTP1 alleles were non-significantly different between the control and RE groups. However, GSTP1 B allele carriers were more frequent among the patients with BE compared to those in the reflux esophagitis group (P=0.04, OR=2.10, 95% CI 0.99-4.44) and most significantly when compared to the controls (P=0.0067, Pcorr<0.05, OR=2.56, 95%CI 1.30-5.05). Although the GSTM1 and GSTT1 genes did not show any relationship with reflux disease, the GSTP1 gene might be one of the risk factors associated with susceptibility to RE, especially to BE.


Asunto(s)
Esófago de Barrett/genética , Esofagitis Péptica/genética , Reflujo Gastroesofágico/genética , Predisposición Genética a la Enfermedad , Glutatión Transferasa/genética , Polimorfismo Genético , Adulto , Alelos , Esófago de Barrett/enzimología , Esófago de Barrett/etiología , Estudios de Casos y Controles , Esofagitis Péptica/enzimología , Esofagitis Péptica/etiología , Femenino , Reflujo Gastroesofágico/enzimología , Reflujo Gastroesofágico/etiología , Glutatión Transferasa/efectos adversos , Humanos , Masculino , Persona de Mediana Edad , Reacción en Cadena de la Polimerasa
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