RESUMEN
BACKGROUND: Cecal intubation during colonoscopy is difficult to achieve in patients with severe sigmoid adhesions. This retrospective observational study assessed the efficacy of using a gastroscope for colonoscopy in patients with severe sigmoid adhesions. Furthermore, the ability of computed tomography (CT) to predict the possibility of cecal intubation using a gastroscope was examined. METHODS: A total of 1,626 patients who underwent colonoscopy for total colon observation by one endoscopist were enrolled. Cecal intubation rate and other procedure-related outcomes were evaluated. We also investigated whether identification of the sigmoid colon pathway by CT was involved in cecal intubation rate using a gastroscope. RESULTS: Of the enrolled patients, cecal intubation by colonoscope was not feasible in 19 patients (1.2%) because of severe sigmoid adhesions. Cecal intubation was possible in 13 patients (68.4%) using a gastroscope, and the cecal intubation rate of peritoneal carcinomatosis (0%, p < 0.01) was significantly lower than that of other causes such as a diverticulum (100%) and history of gynecologic surgery (80%). The identifiable case of the sigmoid colon pathway by horizontal section on CT showed significantly higher cecal intubation rate compared to those of unidentifiable cases (92.3% vs. 16.7%, p < 0.01). CONCLUSION: Using a gastroscope is effective in performing cecal intubation during colonoscopy in patients with severe sigmoid adhesions. However, in patients with sigmoid adhesions caused by peritoneal carcinomatosis, cecal intubation may be difficult, even when a gastroscope is used. The ability of CT to identify the sigmoid colon pathway may predict success of cecal intubation.
Asunto(s)
Colonoscopía , Neoplasias Peritoneales , Humanos , Femenino , Colonoscopía/efectos adversos , Ciego/diagnóstico por imagen , Colon Sigmoide , Gastroscopios , Neoplasias Peritoneales/etiologíaRESUMEN
BACKGROUND: Novel coronavirus disease (COVID-19) outbreaks have dramatically changed lifestyles, with various effects on the physical and mental health of families and children with various childhood-onset neurological diseases. A questionnaire survey was conducted to identify family-specific issues and needs of patients with congenital insensitivity to pain with anhidrosis (CIPA) during major changes in their daily lives due to the COVID-19 outbreaks. METHODS: An anonymous questionnaire was sent to 56 families that were members of the Association of Patients and Families of CIPA in Japan between October and November 2020, the first 2 months of the third outbreak. RESULTS: Thirty-eight families (67.2% response rate) responded to the questionnaire. The current concerns of the parents were (1) difficulty in predicting the future (19 parents, 50%), (2) household and work concerns (eight parents, 21.1%), and (3) whether they would become infected (25 parents, 65.8%). Fifteen families indicated stress due to increased time together (stress + group), and 10 families had a better understanding of each other due to increased time together. New sleep disturbances and behavioral changes were observed in approximately 20% and 50% of patients with CIPA, respectively. No single factor could explain family stress. There were also free descriptions of the importance of peer support, connections with experts, and prompt responses for resolution. CONCLUSIONS: Each family has its own way of coping with multiple factors that contribute to the stress of the patient and family. A long-established resilience to the disease proved effective during this pandemic.
Asunto(s)
COVID-19 , Neuropatías Hereditarias Sensoriales y Autónomas , Niño , Humanos , Pandemias , Receptor trkA , COVID-19/epidemiologíaRESUMEN
Cholangiocarcinoma is the second most common primary cancer of the liver and has a poor prognosis. Various animal models, including carcinogen-induced and genetically engineered rodent models, have been established to clarify the mechanisms underlying cholangiocarcinoma development. In the present study, we developed a novel mouse model of malignant lesions in the biliary ducts induced by the administration of the carcinogen azoxymethane to obese C57BLKS/J-db/db mice. A histopathological analysis revealed that the biliary tract lesions in the liver appeared to be an intrahepatic cholangiocarcinoma with higher tumor incidence, shorter experimental duration, and a markedly increased incidence in obese mice. Molecular markers analyzed using a microarray and a qPCR indicated that the cancerous lesions originated from the cholangiocytes and developed in the inflamed livers. These findings indicated that this is a novel mouse model of intrahepatic cholangiocarcinoma in the context of steatohepatitis. This model can be used to provide a better understanding of the pathogenic mechanisms of cholangiocarcinoma and to develop novel therapeutic strategies for this malignancy.
Asunto(s)
Neoplasias de los Conductos Biliares , Colangiocarcinoma , Ratones , Animales , Conductos Biliares Intrahepáticos/patología , Azoximetano/toxicidad , Neoplasias de los Conductos Biliares/inducido químicamente , Neoplasias de los Conductos Biliares/patología , Colangiocarcinoma/inducido químicamente , Colangiocarcinoma/patología , Carcinógenos/toxicidadRESUMEN
Previous studies have shown that phosphorylation of the retinoid X receptor-α (RXRα) is associated with the development of hepatocellular carcinoma (HCC). However, these findings were revealed using HCC cell lines that express phosphorylated-RXRα (p-RXRα) proteins; therefore, it remains unclear whether p-RXRα affects hepatocarcinogenesis in vivo. Therefore, to investigate the biological function of p-RXRα in vivo, we developed a doxycycline-inducible ES cell line and transgenic mouse, both of which overexpress the phosphomimetic mutant form of RXRα, T82D/S260D, in a doxycycline-dependent manner. We found that the development of liver tumors, especially high-grade adenoma and HCC, was enhanced in diethylnitrosamine (DEN)-treated T82D/S260D-inducible mice. Moreover, the increased incidence of liver tumors in the transgenic mice was attributable to the promotion of cell cycle progression. Interestingly, the expression of ß-catenin protein and its target gene cyclin D1 was elevated in the liver tumors of DEN-treated T82D/S260D-inducible mice, concurrent with increased cytoplasmic and nuclear ß-catenin protein expression, indicating its stabilization and transcriptional activation. These results indicate that p-RXRα promotes DEN-induced hepatocarcinogenesis in mice through the activation of the ß-catenin signaling pathway, suggesting that p-RXRα may serve as a possible therapeutic target for HCC.
Asunto(s)
Carcinoma Hepatocelular , Neoplasias Hepáticas , Animales , Carcinogénesis/inducido químicamente , Carcinogénesis/genética , Carcinoma Hepatocelular/inducido químicamente , Carcinoma Hepatocelular/genética , Carcinoma Hepatocelular/metabolismo , Dietilnitrosamina/toxicidad , Doxiciclina , Neoplasias Hepáticas/inducido químicamente , Neoplasias Hepáticas/genética , Neoplasias Hepáticas/metabolismo , Ratones , Ratones Transgénicos , Receptor alfa X Retinoide/genética , Receptor alfa X Retinoide/metabolismo , Receptores X Retinoide , Transducción de Señal , beta Catenina/genética , beta Catenina/metabolismoRESUMEN
Landau-Kleffner syndrome (LKS) is a rare neurological disorder characterized by acquired aphasia. LKS presents with distinctive electroencephalography (EEG) findings, including diffuse continuous spike and wave complexes (CSW), particularly during sleep. There has been little research on the mechanisms of aphasia and its origin within the brain and how it recovers. We diagnosed LKS in a 4-year-old female with an epileptogenic zone located primarily in the right superior temporal gyrus or STG (nondominant side). In the course of her illness, she had early signs of motor aphasia recovery but was slow to regain language comprehension and recover from hearing loss. We suggest that the findings from our patient's brain imaging and the disparity between her recovery from expressive and receptive aphasias are consistent with the dual-stream model of speech processing in which the nondominant hemisphere also plays a significant role in language comprehension. Unlike aphasia in adults, the right-hemisphere disorder has been reported to cause delays in language comprehension and gestures in early childhood. In the period of language acquisition, it requires a process of understanding what the words mean by integrating and understanding the visual, auditory, and contextual information. It is thought that the right hemisphere works predominantly with respect to its integrating role.
Asunto(s)
Afasia , Síndrome de Landau-Kleffner , Adulto , Afasia/etiología , Encéfalo/diagnóstico por imagen , Preescolar , Electroencefalografía , Femenino , Humanos , Síndrome de Landau-Kleffner/complicaciones , Síndrome de Landau-Kleffner/diagnóstico , LenguajeRESUMEN
KARS encodes lysyl-tRNA synthetase, which is essential for protein translation. KARS mutations sometimes cause impairment of cytoplasmic and mitochondrial protein synthesis, and sometimes lead to progressive leukodystrophies with mitochondrial signature and psychomotor regression, and follow a rapid regressive course to premature death. There has been no disease-modifying therapy beyond supportive treatment. We present a 5-year-old male patient with an asymmetrical leukodystrophy who showed overt evidence of mitochondrial dysfunction, including elevation of lactate on brain MR spectroscopy and low oxygen consumption rate in fibroblasts. We diagnosed this patient's condition as KARS-related leukodystrophy with cerebral calcification, congenital deafness, and evidence of mitochondrial dysfunction. We employed a ketogenic diet as well as multiple vitamin supplementation with the intention to alleviate mitochondrial dysfunction. The patient showed alleviation of his psychomotor regression and even partial restoration of his abilities within 4 months. This is an early report of a potential disease-modifying therapy for KARS-related progressive leukodystrophy without appreciable adverse effects.
Asunto(s)
Sordera , Dieta Cetogénica , Lisina-ARNt Ligasa , Preescolar , Humanos , Lisina-ARNt Ligasa/genética , Lisina-ARNt Ligasa/metabolismo , Masculino , Mitocondrias/genética , Mitocondrias/metabolismo , MutaciónRESUMEN
Intellectual disability (ID) is characterized by significant limitations in both intellectual functioning and adaptive behaviors, originating before the age of 18 years. However, the genetic etiologies of ID are still incompletely elucidated due to the wide range of clinical and genetic heterogeneity. Whole genome sequencing (WGS) has been applied as a single-step clinical diagnostic tool for ID because it detects genetic variations with a wide range of resolution from single nucleotide variants (SNVs) to structural variants (SVs). To explore the causative genes for ID, we employed WGS in 45 patients from 44 unrelated Japanese families and performed a stepwise screening approach focusing on the coding variants in the genes. Here, we report 12 pathogenic and likely pathogenic variants: seven heterozygous variants of ADNP, SATB2, ANKRD11, PTEN, TCF4, SPAST, and KCNA2, three hemizygous variants of SMS, SLC6A8, and IQSEC2, and one homozygous variant in AGTPBP1. Of these, four were considered novel. Furthermore, a novel 76 kb deletion containing exons 1 and 2 in DYRK1A was identified. We confirmed the clinical and genetic heterogeneity and high frequency of de novo causative variants (8/12, 66.7%). This is the first report of WGS analysis in Japanese patients with ID. Our results would provide insight into the correlation between novel variants and expanded phenotypes of the disease.
Asunto(s)
Predisposición Genética a la Enfermedad , Discapacidad Intelectual/genética , Proteínas Serina-Treonina Quinasas/genética , Proteínas Tirosina Quinasas/genética , Adolescente , Heterogeneidad Genética , Genoma Humano/genética , Heterocigoto , Proteínas de Homeodominio/genética , Homocigoto , Humanos , Discapacidad Intelectual/epidemiología , Discapacidad Intelectual/patología , Japón/epidemiología , Masculino , Secuenciación Completa del Genoma , Quinasas DyrKRESUMEN
INTRODUCTION: Endoscopic submucosal dissection (ESD) is an effective treatment for gastric neoplasms in elderly patients; however, it involves several adverse events, including pneumonia. This study aimed to investigate whether skeletal muscle depletion (SMD) was associated with the development of pneumonia in elderly patients who underwent gastric ESD. METHODS: This retrospective observational cohort study included 157 patients (≥80 years) who had undergone gastric ESD. The skeletal muscle cross-sectional area was measured by CT, and the value of the third lumbar vertebra skeletal muscle index (L3 SMI) was evaluated. The SMD was defined as an L3 SMI value ≤38.0 cm2/m2 for women and ≤42.0 cm2/m2 for men. Pneumonia was also diagnosed using CT to identify all included patients. RESULTS: Among 157 patients, 66 (42.0%) showed SMD. In the SMD group, the incidence of pneumonia was 21.2%, whereas it was 7.7% in the non-SMD group (p = 0.018). The longest hospitalization duration was 19 days. Antibiotics were administered in 61.9% of the patients. Procedure time was not significantly different between the groups (72 ± 54 min vs. 62 ± 44 min, p = 0.201). On multivariate analysis, SMD was an independent risk factor for the development of pneumonia (odds ratio = 3.16, 95% confidence interval, 1.18-8.50, p = 0.023). CONCLUSIONS: SMD was not a rare entity in patients aged ≥80 years with gastric neoplasms. SMD was a significant risk factor for pneumonia related to gastric ESD in elderly patients.
Asunto(s)
Resección Endoscópica de la Mucosa , Neumonía , Neoplasias Gástricas , Anciano , Femenino , Mucosa Gástrica , Humanos , Masculino , Músculo Esquelético/diagnóstico por imagen , Neumonía/epidemiología , Neumonía/etiología , Estudios Retrospectivos , Factores de Riesgo , Resultado del TratamientoRESUMEN
The efficacy of antipyretics for preventing febrile seizure recurrence has been reported by a recent study, and the results might overturn previous evidence. We systematically reviewed the efficacy of antipyretics in the prevention of febrile seizure recurrence in children focused on the timing of its administration. We searched the Medline, Embase, and Cochrane Central Register of Controlled Trials databases for randomized and quasi-randomized trials and prospective non-randomized studies of aged up to 60 months, diagnosed with febrile seizure, who were treated with antipyretics. Data were extracted from eight studies. Only one study reported that antipyretics prevented the recurrence of febrile seizures within the same fever episode (9.1% in the acetaminophen group vs. 23.5% in the control group, p < 0.01). Four studies found no evidence for the efficacy of antipyretics in preventing febrile seizure recurrence in distant fever episodes (odds ratio, 0.92; 95% confidence interval, 0.57-1.48, for two randomized controlled studies).Conclusion: This review provides very limited support for the use of antipyretics in preventing febrile seizure recurrence within the same fever episode and no evidence for its use in distant fever episodes. New studies are required to evaluate this topic further and determine whether the effectiveness of antipyretics is based on intervention timing. What is Known: ⢠Reviews of prophylactic drug management among febrile seizure children found that antipyretics had no significant benefits. ⢠Recent data suggest that antipyretics are effective in preventing febrile seizures. What is New: ⢠Weak evidence suggests a possible role in preventing febrile seizure recurrence within the same fever episode. ⢠There is clearly no role for antipyretic prophylaxis in preventing febrile seizures during distant fever episodes.
Asunto(s)
Antipiréticos , Preparaciones Farmacéuticas , Convulsiones Febriles , Acetaminofén , Anciano , Antipiréticos/uso terapéutico , Niño , Humanos , Estudios Prospectivos , Recurrencia , Convulsiones Febriles/tratamiento farmacológico , Convulsiones Febriles/prevención & controlRESUMEN
The utility of whole exome analysis has been extensively demonstrated in research settings, but its clinical utility as a first-tier genetic test has not been well documented from diagnostic and health economic standpoints in real-life clinical settings. We performed medical exome analyses focusing on a clinically interpretable portion of the genome (4,813 genes) as a first-tier genetic test for 360 consecutive patients visiting a genetics clinic at a tertiary children's hospital in Japan, over a 3-year period. Bioinformatics analyses were conducted using standard software. A molecular diagnosis was made in 171 patients involving a total of 107 causative genes. Among these 107 causative genes, 57 genes were classified as genes with potential organ-specific interventions and management strategies. Clinically relevant results were obtained in 26% of the total cohort and 54% of the patients with a definitive molecular diagnosis. Performing the medical exome analysis at the time of the initial visit to the tertiary center, rather than after visits to pertinent specialists, brain MRI examination, and G-banded chromosome testing, would have reduced the financial cost by 197 euros according to retrospective calculation under multiple assumption. The present study demonstrated a high diagnostic yield (47.5%) for singleton medical exome analysis as a first-tier test in a real-life setting. Medical exome analysis yielded clinically relevant information in a quarter of the total patient cohort. The application of genomic testing during the initial visit to a tertiary medical center could be a rational approach to the diagnosis of patients with suspected genetic disorders.
Asunto(s)
Secuenciación del Exoma/economía , Enfermedades Genéticas Congénitas/diagnóstico , Pruebas Genéticas/economía , Anomalías Múltiples/diagnóstico , Anomalías Múltiples/genética , Encéfalo/diagnóstico por imagen , Preescolar , Estudios de Cohortes , Biología Computacional , Análisis Costo-Beneficio , Enfermedades Genéticas Congénitas/economía , Enfermedades Genéticas Congénitas/genética , Pruebas Genéticas/métodos , Humanos , Lactante , Japón , Imagen por Resonancia Magnética , Centros de Atención Terciaria , Secuenciación del Exoma/métodosRESUMEN
BACKGROUND: The characteristics of Helicobacter pylori (HP) infection-negative gastric cancer (HPINGC) have not been well documented because of the rareness. The aim of this study was to classify HPINGC endoscopically and clinicopathologically. METHODS: This retrospective study included 1,741 early gastric cancer lesions and evaluated their HP infection status. Expression levels of MUC5AC, MUC6, MUC2, CD10, p53, MIB-1, pepsinogen-I, H+/K+ ATPase, chromogranin A, E-cadherin, and gastrin were evaluated in tumors by immunohistochemistry (IHC). RESULTS: Among the analyzed lesions, 19 (1.1%) were diagnosed as HPINGC and classified into 6 types: undifferentiated (5 lesions), fundic gland (2 lesions), cardiac gland (1 lesion), pyloric gland (3 lesions), foveolar (5 lesions), and mixed (3 lesions) types. Undifferentiated lesions were of pale color, with unclear demarcation and decreased E-cadherin expression. Fundic-type lesions were tan to reddish in color, with submucosal tumor-like protrusions, and positive for pepsinogen-I and H+/K+ ATPase. The cardiac gland type was located in the gastroesophageal junction and was positive for MUC6 and pepsinogen-I. Pyloric gland-type lesions were of the same color as normal mucosa, with mild elevation and unclear demarcation, likely positive for CD10 and chromogranin A. Foveolar epithelial-type lesions were white and elevated, with defined demarcation, and contained MUC5AC-positive cells. Mixed-type lesions, showing various staining patterns in IHC, had both elevated and depressed shape and reddish color. CONCLUSION: Endoscopic observation and IHC were useful for classifying the characteristics of HPINGC, which may preserve the characteristics of its region of origin.
Asunto(s)
Endoscopía , Infecciones por Helicobacter/complicaciones , Helicobacter pylori/fisiología , Neoplasias Gástricas/patología , Neoplasias Gástricas/cirugía , Adulto , Anciano , Diferenciación Celular , Femenino , Mucosa Gástrica/patología , Humanos , Antígeno Ki-67/metabolismo , Masculino , Persona de Mediana Edad , Estadificación de Neoplasias , Pepsinógeno A/metabolismo , Estudios RetrospectivosRESUMEN
PURPOSE: Malignant large-bowel obstruction (MLBO) is a highly urgent condition in colorectal cancer with high complication rates. Self-expandable metal stent (SEMS) placement in MLBO is a new decompression treatment in Japan. Preoperative stent placement (bridge to surgery: BTS) avoids emergency surgery, but oncological influences of stent placement and post-BTS surgical approach remain unclear. We examined short- and long-term results of surgery for MLBO after SEMS placement in our hospital. METHODS: We retrospectively reviewed 75 patients with MLBO who underwent resection after SEMS placement at our hospital from June 2013 to December 2018. Postoperative morbidity and mortality were evaluated by comparison with the surgical approach. RESULTS: Tumor location was significantly higher in the left-side colon and rectum (n = 59, 78.7%) than right-side colon (n = 16, 21.3%). Technical and clinical success rates for SEMS placement were 97.3% and 96.0%, respectively. Laparoscopic surgery was performed in 54 patients (69.0%), and one-stage anastomosis was performed in 73 (97.3%). Postoperative complications were similar in the open surgery (open) group (n = 5, 23.8%) and laparoscopic surgery (lap) group (n = 7, 13.0%), with no severe complications requiring reoperation. Three-year overall survival (OS) and relapse-free survival (RFS) rates were not significantly different in the lap vs open group (67.5% vs 66.4%; 82.2% vs 62.5%). CONCLUSION: Preoperative stent treatment avoids stoma construction but allows anastomosis. One-time surgery was performed safely contributing to minimally invasive treatment and acceptable short- and long-term results.
Asunto(s)
Neoplasias Colorrectales , Obstrucción Intestinal , Laparoscopía , Colon , Neoplasias Colorrectales/complicaciones , Neoplasias Colorrectales/cirugía , Estudios de Factibilidad , Humanos , Obstrucción Intestinal/etiología , Obstrucción Intestinal/cirugía , Japón , Recurrencia Local de Neoplasia , Pronóstico , Estudios Retrospectivos , Stents , Resultado del TratamientoRESUMEN
BACKGROUND: Postoperative anastomotic stenosis is a common complication in colorectal cancer patients (3-30%). Complete anastomotic stenosis is rare; however, when it occurs, almost all cases require surgical treatment. We herein report a case in which endoscopic dilation was effective for treating complete anastomotic stenosis after high anterior resection in a rectal cancer patient. CASE PRESENTATION: The patient was a 67-year-old man who underwent laparoscopic high anterior resection for rectal cancer (RS, T4a, N0, M0, Stage IIB (TNM Classification of Malignant Tumors)) in May 2018. The postoperative course was good and the patient was discharged on the 12th postoperative day. Subsequently adjuvant chemotherapy was initiated with oral uracil and tegafur plus leucovorin (UFT/LV); however, he complained of frequent defecation and melena after completion of the first course of chemotherapy. Thus, colonoscopy was performed, which revealed anastomotic stenosis. Endoscopic dilation was initially attempted, but failed. Thus, low anterior resection was performed with diverting colostomy. Four additional courses of chemotherapy were administered for 1 month after surgery. At 6 months after the second surgery, colonoscopy was performed, and complete anastomotic stenosis was pointed out again. The patient was successfully treated by endoscopic dilation using the rendezvous method. After this treatment, the lumen of the anastomotic site was observed to have narrowed again and endoscopic dilatation to treat anastomotic stenosis was repeated. In addition, he received local injection of steroids in anastomotic stenosis site. The lumen of anastomotic stenosis remained after the local injection of steroids and closure of colostomy was performed 9 months after the second operation. CONCLUSIONS: Endoscopic dilation using the rendezvous method was effective for treating anastomotic stenosis after colorectal surgery.
Asunto(s)
Neoplasias del Recto , Anciano , Anastomosis Quirúrgica/efectos adversos , Constricción Patológica/etiología , Dilatación , Humanos , Masculino , Pronóstico , Neoplasias del Recto/cirugía , Estudios RetrospectivosRESUMEN
Type 2 diabetes mellitus and its related insulin resistance are known to increase the risk of cancer. Anti-diabetic agents can improve insulin resistance and may lead to the suppression of carcinogenesis. This study aimed to investigate the preventive effects of the alpha-glucosidase inhibitor voglibose on the development of azoxymethane-induced colorectal pre-neoplastic lesions in obese and diabetic C57BL/KsJ-db/db mice. The direct effects of voglibose on the proliferation of colorectal cancer cells were also evaluated. Mice were injected with azoxymethane to induce colorectal pre-malignancy and were then administered drinking water with or without voglibose. At the end of the study, the administration of voglibose significantly suppressed the development of colorectal neoplastic lesions. In voglibose-treated mice, serum glucose levels, oxidative stress, as well as mRNA expression of the insulin-like growth factor-1 in the colon mucosa, were reduced. The proliferation of human colorectal cancer cells was not altered by voglibose. These results suggested that voglibose suppressed colorectal carcinogenesis in a diabetes- and obesity-related colorectal cancer model, presumably by improving inflammation via the reduction of oxidative stress and suppressing of the insulin-like growth factor/insulin-like growth factor-1 receptor axis in the colonic mucosa.
Asunto(s)
Neoplasias del Colon/etiología , Neoplasias del Colon/patología , Inhibidores de Glicósido Hidrolasas/química , Inhibidores de Glicósido Hidrolasas/farmacología , Inositol/análogos & derivados , Animales , Antioxidantes/química , Antioxidantes/farmacología , Azoximetano/efectos adversos , Biomarcadores , Biopsia , Proliferación Celular/efectos de los fármacos , Neoplasias del Colon/tratamiento farmacológico , Citocinas/metabolismo , Diabetes Mellitus Tipo 2/complicaciones , Diabetes Mellitus Tipo 2/metabolismo , Modelos Animales de Enfermedad , Humanos , Mediadores de Inflamación , Inositol/química , Inositol/farmacología , Mucosa Intestinal/efectos de los fármacos , Mucosa Intestinal/metabolismo , Mucosa Intestinal/patología , Ratones , FN-kappa B/metabolismo , Obesidad/complicaciones , Obesidad/metabolismo , Estrés Oxidativo/efectos de los fármacos , Lesiones PrecancerosasRESUMEN
BACKGROUND: Pulmonary dysfunction often accompanies esophageal squamous cell carcinoma (SCC). AIMS: This study examined the use of carbon dioxide (CO2) insufflation and its safety during esophageal endoscopic submucosal dissection (ESD) while under conscious sedation. METHODS: ESD using CO2 insufflation (1.4 L/min) was performed in 102 consecutive esophageal SCC patients. Patients with a forced expiratory volume of 1.0 s/forced vital capacity (FEV1.0%) < 70% or a vital capacity < 80% were defined as having pulmonary dysfunction. Transcutaneous partial pressure of CO2 (PtcCO2) was recorded before, during, and after ESD. RESULTS: A history of smoking was found in 90 patients (88%), while 43 patients (42%) had pulmonary dysfunction. No significant differences were found between the pulmonary dysfunction and normal groups for the baseline PtcCO2 before ESD, peak PtcCO2 during ESD, and median PtcCO2 after ESD. There was a significant correlation between the PtcCO2 elevation from baseline and the ESD procedure time (r = 0.32, p < 0.01), with the correlation for the pulmonary dysfunction group much stronger (r = 0.39, p < 0.05) than that for the normal group (r = 0.30, p < 0.01). Neither of the groups exhibited any differences for either the complication incidence or the hospital stay. CONCLUSIONS: Although the use of CO2 insufflation during esophageal ESD under conscious sedation is safe with regard to the risk of complications, longer procedure times can potentially induce CO2 retention in patients with obstructive lung disease. Thus, it is necessary to both shorten the procedure times and perform CO2 monitoring.
Asunto(s)
Dióxido de Carbono/efectos adversos , Resección Endoscópica de la Mucosa , Carcinoma de Células Escamosas de Esófago/cirugía , Insuflación/efectos adversos , Anciano , Resección Endoscópica de la Mucosa/efectos adversos , Femenino , Humanos , Incidencia , Tiempo de Internación , Masculino , Persona de Mediana Edad , Oxígeno/metabolismo , Complicaciones Posoperatorias/epidemiología , Complicaciones Posoperatorias/etiología , Factores de Tiempo , Resultado del TratamientoRESUMEN
BACKGROUND: Cockayne syndrome (CS) is a rare, autosomal recessive multisystem disorder characterised by prenatal or postnatal growth failure, progressive neurological dysfunction, ocular and skeletal abnormalities and premature ageing. About half of the patients with symptoms diagnostic for CS show cutaneous photosensitivity and an abnormal cellular response to UV light due to mutations in either the ERCC8/CSA or ERCC6/CSB gene. Studies performed thus far have failed to delineate clear genotype-phenotype relationships. We have carried out a four-centre clinical, molecular and cellular analysis of 124 patients with CS. METHODS AND RESULTS: We assigned 39 patients to the ERCC8/CSA and 85 to the ERCC6/CSB genes. Most of the genetic variants were truncations. The missense variants were distributed non-randomly with concentrations in relatively short regions of the respective proteins. Our analyses revealed several hotspots and founder mutations in ERCC6/CSB. Although no unequivocal genotype-phenotype relationships could be made, patients were more likely to have severe clinical features if the mutation was downstream of the PiggyBac insertion in intron 5 of ERCC6/CSB than if it was upstream. Also a higher proportion of severely affected patients was found with mutations in ERCC6/CSB than in ERCC8/CSA. CONCLUSION: By identifying >70 novel homozygous or compound heterozygous genetic variants in 124 patients with CS with different disease severity and ethnic backgrounds, we considerably broaden the CSA and CSB mutation spectrum responsible for CS. Besides providing information relevant for diagnosis of and genetic counselling for this devastating disorder, this study improves the definition of the puzzling genotype-phenotype relationships in patients with CS.
Asunto(s)
Síndrome de Cockayne/genética , ADN Helicasas/genética , Enzimas Reparadoras del ADN/genética , Trastornos por Fotosensibilidad/genética , Proteínas de Unión a Poli-ADP-Ribosa/genética , Factores de Transcripción/genética , Adolescente , Adulto , Niño , Preescolar , Síndrome de Cockayne/fisiopatología , Estudios de Cohortes , Femenino , Predisposición Genética a la Enfermedad , Humanos , Lactante , Intrones/genética , Masculino , Mutación Missense/genética , Trastornos por Fotosensibilidad/fisiopatología , Embarazo , Rayos Ultravioleta , Adulto JovenRESUMEN
BACKGROUND: Acute encephalopathy (AE) is defined by the Japanese guidelines as the acute disturbance of consciousness (Glasgow coma scale [GCS] score ≤11) that persists for >24 h. We have often encountered, however, cases of prolonged mild disturbance of consciousness (PMDC) with GCS score >11, meaning that they do not fit the guideline definition of AE. The reports of these cases have been relatively sparse, and the nosological position, prognosis, and other characteristics remain unknown. To clarify the characteristics of PMDC we compared cases of PMDC with cases of AE. METHODS: This study was a retrospective observational study at a tertiary children's hospital in Japan. We studied children with a diagnosis of AE or PMDC between January 2011 and August 2016. RESULTS: Thirteen cases of PMDC and 19 cases of AE were identified during the study period. PMDC patients more frequently had hyponatremia (P < 0.01), paradoxical arousal response on electroencephalogram (P = 0.010), normal computed tomography (CT; P = 0.025), and normal magnetic resonance imaging (MRI; P < 0.01) than the AE patients. Sequelae were more frequently observed in AE than in PMDC patients (P = 0.011). CONCLUSIONS: PMDC has different characteristics to AE with regard to hyponatremia, paradoxical arousal response, CT or MRI findings, and prognosis. Despite the differences, PMDC might also be regarded as being a milder member of the wide variety of AE and related diseases.
Asunto(s)
Encefalopatías/diagnóstico , Trastornos de la Conciencia/diagnóstico , Enfermedad Aguda , Niño , Preescolar , Diagnóstico Diferencial , Femenino , Humanos , Masculino , Pronóstico , Estudios Retrospectivos , Índice de Severidad de la Enfermedad , Factores de TiempoRESUMEN
OBJECTIVES: The study aims to assess the clinical usefulness and related limitations of our simplified emergency electroencephalography (eEEG) as an assessment tool of lethal abnormal brain waves in the emergency room (ER). METHODS: Electrodes were placed on 4 places: bilateral frontal poles and parietal regions. The derivations to judge consisted of only 2 bipolar leads on the left and right. Abnormal wave was defined as either persistent rhythmic waves or persistent high-amplitude slow waves (<2 Hz). The indications of eEEG were as follows: prolonged impairment of consciousness, suspected subclinical or subtle seizure, and requirement of evaluation of consciousness or seizure during administration of muscle relaxants for endotracheal intubation. RESULTS: We performed eEEG for 86 patients between July 2013 and February 2014. The persistent rhythmic waves were observed in 7 (8.1%), whereas high-amplitude slow waves were observed in 10 (11.6%). Among 69 patients with normal eEEG, 2 were diagnosed with encephalopathy after hospitalization. The mean time taken to attach electrodes was 5.4 minutes. CONCLUSIONS: For the ER physician, the simple EEG, such as eEEG, is useful as a biological monitor because it enables quick assessment of lethal abnormal brain waves in the ER. The clinical usefulness and limitations of our eEEG method should be investigated further in a large population.