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1.
Pediatrics ; 153(6)2024 May 09.
Artículo en Inglés | MEDLINE | ID: mdl-38721668

RESUMEN

Molecular autopsy has recently been gaining attention as a means of postmortem diagnosis; however, it is usually performed using the victim's blood sample at the time of death. Here, we report the first case of a deceased infant with Brugada syndrome whose diagnosis was made with banked cord blood. A seemingly healthy 1-year-old male infant collapsed while having a fever; this collapse was witnessed by his mother. Despite cardiopulmonary resuscitation, he died of ventricular fibrillation. No abnormalities of cardiac structure were identified on autopsy. Genomic samples were not stored at the time because of a lack of suspicion for familial arrhythmia. Five years later, his sister showed Brugada electrocardiogram pattern while febrile from Kawasaki disease. Their father showed a spontaneous type 1 Brugada electrocardiogram pattern. A heterozygous SCN5A p.R893C variant was found by genetic testing in the proband's father and sister. Furthermore, the proband's genetic testing was performed using his banked cord blood, which identified the same variant. Family history of Brugada syndrome with an SCN5A-R893C variant and clinical evidence led to a postmortem diagnosis of Brugada syndrome in the proband. Identification of this variant in this case later contributed to verifying SCN5A-R893C as a pathogenic variant through data accumulation. Banked cord blood may prove useful for conducting molecular autopsies in previously undiagnosed cases of sudden death in which genomic samples were not stored.


Asunto(s)
Autopsia , Síndrome de Brugada , Sangre Fetal , Canal de Sodio Activado por Voltaje NAV1.5 , Humanos , Síndrome de Brugada/genética , Síndrome de Brugada/diagnóstico , Masculino , Canal de Sodio Activado por Voltaje NAV1.5/genética , Lactante , Electrocardiografía , Muerte Súbita/etiología
2.
Hepatology ; 2024 Apr 23.
Artículo en Inglés | MEDLINE | ID: mdl-38652555

RESUMEN

BACKGROUND AIMS: Previous genome-wide association studies (GWAS) have indicated the involvement of shared (population-non-specific) and non-shared (population-specific) susceptibility genes in the pathogenesis of primary biliary cholangitis (PBC) among European and East-Asian populations. Although a meta-analysis of these distinct populations has recently identified more than 20 novel PBC susceptibility loci, analyses of population-specific genetic architecture are still needed for a more comprehensive search for genetic factors in PBC. APPROACH RESULTS: Protein tyrosine phosphatase non-receptor type 2 (PTPN2) was identified as a novel PBC susceptibility gene locus through a GWAS and subsequent genome-wide meta-analysis involving 2,181 cases and 2,699 controls from the Japanese population (GWAS-lead variant: rs8098858, p=2.6×10-8). In-silico and in-vitro functional analyses indicated that the risk allele of rs2292758, which is a primary functional variant, decreases PTPN2 expression by disrupting Sp1 binding to the PTPN2 promoter in T follicular helper cells (Tfh) and plasmacytoid dendritic cells (pDCs). Infiltration of PTPN2-positive T-cells and pDCs were confirmed in the portal area of the PBC-liver by immunohistochemistry. Furthermore, transcriptomic analysis of PBC-liver samples indicated the presence of a compromised negative feedback loop in-vivo between PTPN2 and IFNG in patients carrying the risk allele of rs2292758. CONCLUSIONS: PTPN2, a novel susceptibility gene for PBC in the Japanese population, may be involved in the pathogenesis of PBC via an insufficient negative feedback loop caused by the PTPN2 risk allele of rs2292758 in IFN signaling. This suggests that PTPN2 could be a potential molecular target for PBC treatment.

3.
BMC Pulm Med ; 23(1): 480, 2023 Nov 29.
Artículo en Inglés | MEDLINE | ID: mdl-38031001

RESUMEN

BACKGROUND: The prevalence of respiratory viruses in children changed under strict infection control measures during the coronavirus disease 2019 (COVID-19) outbreak. In this study, we investigated the frequency of viral detection in the nasopharynx of paediatric patients with asthma exacerbations requiring hospitalization during the COVID-19 pandemic, as well as the distribution of causative viruses. METHODS: We included paediatric patients admitted for asthma exacerbations between November 2020 and December 2022 at a single centre in Kobe, Japan. Demographic, clinical, and laboratory data were collected from their medical records and using additional questionnaires. All patients enrolled in this study met the diagnostic criteria for asthma exacerbations outlined in the Japanese Pediatric Guideline for the Treatment and Management of Bronchial Asthma 2020. Statistical differences were calculated using univariate analyses (chi-square or Mann‒Whitney U test). RESULTS: We enrolled 203 children hospitalized for asthma attacks and collected nasopharyngeal samples from 189 patients. The median patient age was 3.0 years. Asthma severity was classified as mild (4.0%), moderate (82.3%), or severe (13.8%). The proportion of viral respiratory infections was 95.2% (180/189). The rate of patients with multiple viral infections was 20.6% (39/189). The most frequently detected pathogens were rhinovirus and enterovirus (RV/EV) at 69.3% (131/189), allowing for duplicate detection, followed by respiratory syncytial virus (RSV) at 28.6% (54/189). We also detected RV/EV almost every month compared to RSV and other viruses. In addition, RV/EV-positive patients were significantly older (p = 0.033), exhibited higher WBC counts (p < 0.001) and higher Eos counts (p < 0.001), had elevated total IgE levels (p < 0.001) and house dust mite-specific IgE levels (p = 0.019), had a shorter duration of hospitalization (p < 0.001), and had a shorter duration of oxygen therapy (p < 0.001). In patients positive for RV/EV, the use of ICSs significantly reduced the severity of the condition (p < 0.001). CONCLUSION: Even under strict infection control measures, respiratory viruses were detected in the nasopharynx of almost all paediatric patients who had asthma exacerbations requiring hospitalization.


Asunto(s)
Asma , Infecciones del Sistema Respiratorio , Virosis , Humanos , Niño , Preescolar , Estudios Retrospectivos , Incidencia , Japón/epidemiología , Pandemias , Asma/epidemiología , Virosis/epidemiología , Virus Sincitiales Respiratorios , Control de Infecciones , Inmunoglobulina E , Infecciones del Sistema Respiratorio/epidemiología , Rhinovirus
4.
Gan To Kagaku Ryoho ; 50(2): 212-214, 2023 Feb.
Artículo en Japonés | MEDLINE | ID: mdl-36807175

RESUMEN

BACKGROUND: Surgical and oncological outcomes of lower rectal cancer remain unsatisfactory. We investigated the short term and long term outcomes of robotic surgery for sphincter function-preserving surgery(SPS)for lower rectal cancer. METHOD: 433 lower rectal cancer patients who underwent SPS at our institution from January 2000 to July 2021 were included, excluding Stage Ⅳ cases and patients with multiple cancers. There were 288 cases of laparotomy, 81 cases of laparoscopic surgery, and 64 cases of robotic surgery; we abbreviated the group names as: OP, LAP, and R, respectively. We retrospectively reviewed the anastomotic leakage rate and prognosis of these groups. RESULTS: The anastomotic leakage rate was 23.6% in the OP group, 17.3% in the LAP group, and 6.3% in the R group, with a significant difference between the OP group and the R group. The 3-year recurrence free survival rate was 86.7% in the LAP group and 95.6% in the R group. Although there was no significant difference, the prognosis tended to be better in the R group. Local recurrence was observed in 3 patients in the LAP group and 1 patient in the R group. CONCLUSION: In SPS for advanced lower rectal cancer, robotic surgery may contribute to a reduction in anastomotic leakage.


Asunto(s)
Laparoscopía , Neoplasias del Recto , Procedimientos Quirúrgicos Robotizados , Humanos , Fuga Anastomótica/cirugía , Estudios Retrospectivos , Neoplasias del Recto/cirugía , Pronóstico , Resultado del Tratamiento
5.
Interv Radiol (Higashimatsuyama) ; 7(2): 40-43, 2022 Jul 01.
Artículo en Inglés | MEDLINE | ID: mdl-36196388

RESUMEN

In response to the recommendation by the International Commission on Radiological Protection to lower the equivalent eye dose limit, the Japanese Government in April 2021 lowered the equivalent dose limit for the eye lens for occupational exposure. A considerable number of interventional radiology operators are exposed to levels above the new limit. For this reason, a need exists to more accurately evaluate eye lens dose in interventional radiology operators by using a novel direct eye dosimeter, the DOSIRIS™(IRSN, France), which is capable of measuring a 3-mm dose equivalent under protective glasses. The DOSIRIS is a thermoluminescent dosimeter that exhibits good energy dependence and better directional properties than other dosimeters. Dosimetry using DOSIRIS might be accurate and compatible with the latest regulations.

7.
Arerugi ; 70(9): 1200-1206, 2021.
Artículo en Japonés | MEDLINE | ID: mdl-34759085

RESUMEN

BACKGROUND: Although the indication for sublingual immunotherapy (SLIT) was expanded in pediatric patients with allergic rhinitis in recent years, some patients choose subcutaneous immunotherapy (SCIT). OBJECTIVE: The objective of this study was to investigate the reason why they chose SCIT in spite of injection pain and high risk of systemic reaction. METHODS: The subjects were 58 patients who diagnosed with allergic rhinitis and introduced SCIT at our hospital between June 2018 and January 2021. The reasons why they chose SCIT were collected from medical records. RESULT: The median age at the start of treatment was 9 years 0 months. The most common reason why they chose SCIT was "difficult to maintain adherence of SLIT" in 28 cases (48%). Other reasons were as follows: "side effects of SLIT", "expectation for the effect of SCIT", "young age (under 5 years old)" and "motivation for allergic disease treatment". CONCLUSION: Two-thirds of the reasons why they chose SCIT were because it was difficult to continue SLIT for some reasons.


Asunto(s)
Rinitis Alérgica , Inmunoterapia Sublingual , Administración Sublingual , Niño , Preescolar , Desensibilización Inmunológica , Humanos , Inyecciones Subcutáneas , Rinitis Alérgica/terapia
8.
Hepatol Res ; 51(12): 1196-1206, 2021 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-34492143

RESUMEN

AIM: Despite advances in the management of liver diseases and changes in the etiology of cirrhosis, few studies have updated the prognosis of cirrhosis. This study aimed to clarify the recent prognosis of cirrhosis and identify risk factors for death. METHODS: In this retrospective observational study by the Hepatic Disease Network of the National Hospital Organization in Japan, chart reviews were performed to follow patients with cirrhosis beginning in 2011. We conducted Kaplan-Meier survival time analyses stratified by Child-Pugh classification and albumin-bilirubin grade. Cox regression analysis was used to identify risk factors for death. RESULTS: We identified 444 eligible patients from 25 hospitals, including 303 (68%), 110 (25%), and 31 (7%) patients with Child-Pugh classes A, B, and C, respectively. Hepatitis C virus infection was the cause of cirrhosis for 63% of the patients. The 1-year and 5-year cumulative survival rates of patients with Child-Pugh classes A, B, and C were 90% and 61%, 78% and 42%, and 65% and 25%, respectively. The 1-year and 5-year cumulative survival rates of patients with albumin-bilirubin grades 1, 2, and 3 were 98% and 80%, 91% and 56%, and 58% and 23%, respectively. Cirrhosis classification (Child-Pugh and albumin-bilirubin), age, liver cancer, and untreated esophageal varices were associated with increased hazard of death. CONCLUSIONS: Little improvement was observed in the prognosis of cirrhosis compared with previous reports, and the prognosis of Child-Pugh class C cirrhosis remained poor. Untreated esophageal varices were identified as a risk factor for death.

9.
CEN Case Rep ; 10(2): 184-188, 2021 05.
Artículo en Inglés | MEDLINE | ID: mdl-33048330

RESUMEN

We present a female patient with a dual genetic diagnosis of autosomal dominant tubulointerstitial kidney disease and KBG syndrome. The proband was an 18-year-old woman presenting with intellectual disability, renal insufficiency, and hyperuricemia. Abdominal ultrasonography did not reveal any abnormalities. The patient's father had been diagnosed with chronic kidney disease and hyperuricemia in his twenties; however, he had no intellectual disability. Her mother and two younger siblings were not affected. Next generation sequencing (NGS) identified mutations in UMOD (c.796T > C) of the proband and her father, and in ANKRD11 (c.1903_1907del) of the proband. Renal insufficiency and intellectual disability were attributed to mutations in UMOD and ANRKD11, respectively. When making genetic diagnoses, the presence of multiple mutations in an individual should be considered, particularly when not all symptoms could be attributed to a single disease. The number of patients with dual genetic diagnosis is expected to increase as NGS becomes more readily available; thus, making it necessary to undertake a careful and robust assessment of the clinical symptoms and the related genotypes, to ensure an accurate diagnosis.


Asunto(s)
Anomalías Múltiples/diagnóstico , Enfermedades del Desarrollo Óseo/diagnóstico , Discapacidad Intelectual/diagnóstico , Riñón Poliquístico Autosómico Dominante/diagnóstico , Anomalías Dentarias/diagnóstico , Anomalías Múltiples/genética , Adolescente , Enfermedades del Desarrollo Óseo/genética , Facies , Femenino , Humanos , Discapacidad Intelectual/genética , Riñón Poliquístico Autosómico Dominante/genética , Anomalías Dentarias/genética
10.
JMA J ; 3(1): 9-19, 2020 Jan 15.
Artículo en Inglés | MEDLINE | ID: mdl-33324771

RESUMEN

The gastrointestinal system is one of the most complex organ systems in the human body, and consists of numerous cell types originating from three germ layers. To understand intestinal development and homeostasis and elucidate the pathogenesis of intestinal disorders, including unidentified diseases, several in vitro models have been developed. Human pluripotent stem cells (PSCs), including embryonic stem cells (ESCs) and induced pluripotent stem cells (iPSCs), have remarkable developmental plasticity and possess the potential for a wide variety of applications. Three-dimensional organs, termed organoids and produced in vitro by PSCs, contain not only epithelium but also mesenchymal tissue and partially recapitulate intestinal functions. Such intestinal organoids have begun to be applied in disease models and drug development and have contributed to a detailed analysis of molecular interactions and findings in the synergistic development of biomedicine for human digestive organs. In this review, we describe gastrointestinal organoid technology derived from PSCs and consider its potential applications.

11.
Hepatol Commun ; 4(5): 724-738, 2020 May.
Artículo en Inglés | MEDLINE | ID: mdl-32363322

RESUMEN

Genome-wide association studies (GWASs) in European and East Asian populations have identified more than 40 disease-susceptibility genes in primary biliary cholangitis (PBC). The aim of this study is to computationally identify disease pathways, upstream regulators, and therapeutic targets in PBC through integrated GWAS and messenger RNA (mRNA) microarray analysis. Disease pathways and upstream regulators were analyzed with ingenuity pathway analysis in data set 1 for GWASs (1,920 patients with PBC and 1,770 controls), which included 261 annotated genes derived from 6,760 single-nucleotide polymorphisms (P < 0.00001), and data set 2 for mRNA microarray analysis of liver biopsy specimens (36 patients with PBC and 5 normal controls), which included 1,574 genes with fold change >2 versus controls (P < 0.05). Hierarchical cluster analysis and categorization of cell type-specific genes were performed for data set 2. There were 27 genes, 10 pathways, and 149 upstream regulators that overlapped between data sets 1 and 2. All 10 pathways were immune-related. The most significant common upstream regulators associated with PBC disease susceptibility identified were interferon-gamma (IFNG) and CD40 ligand (CD40L). Hierarchical cluster analysis of data set 2 revealed two distinct groups of patients with PBC by disease activity. The most significant upstream regulators associated with disease activity were IFNG and CD40L. Several molecules expressed in B cells, T cells, Kupffer cells, and natural killer-like cells were identified as potential therapeutic targets in PBC with reference to a recently reported list of cell type-specific gene expression in the liver. Conclusion: Our integrated analysis using GWAS and mRNA microarray data sets predicted that IFNG and CD40L are the central upstream regulators in both disease susceptibility and activity of PBC and identified potential downstream therapeutic targets.

12.
Pediatr Int ; 61(9): 847-851, 2019 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-31264304

RESUMEN

BACKGROUND: Securing food for patients with food allergies may be more difficult during disasters, but reports on the status of household allergen-free food reserves in preparation for disasters are limited. This study investigated the household stock status of allergen-free foods in preparation for disasters in Kobe City after the Great Hanshin-Awaji Earthquake. METHODS: The survey targets were 172 parents of patients with a food allergy who underwent in-hospital oral food challenge test for allergies at four hospitals from October 2016 to March 2017. Of these, 158 patients with allergies to eggs, milk and wheat were included in the analysis. The first survey was performed to investigate patient characteristics and stockpiling status of allergen-free foods in parallel with oral food challenge tests. The second survey was performed on the follow-up visit to investigate any changes in behavior. RESULTS: Median patient age was 3 years, with boys comprising 68.4% of the patients. Eggs were the most eliminated food, and the median number of foods avoided was 2. A total of 82.3% of parents had experienced disasters. The proportion of households that stockpiled allergy-free meals was 42.4%, and the median amount was 3 days. The stockpiling situation did not differ according to the parents' disaster experience. In the second survey, 45.3% had modified their stockpiling practice. CONCLUSIONS: Even in this area where the Great Hanshin-Awaji Earthquake occurred, household stockpiles of allergen-free foods are inadequate; therefore, all medical staff should educate families about the necessity of stocking allergen-free food for disasters.


Asunto(s)
Planificación en Desastres/estadística & datos numéricos , Hipersensibilidad a los Alimentos , Abastecimiento de Alimentos , Conducta Materna , Conducta Paterna , Adolescente , Niño , Preescolar , Terremotos , Femenino , Humanos , Lactante , Recién Nacido , Japón , Masculino , Encuestas y Cuestionarios
13.
Arerugi ; 68(6): 681-690, 2019.
Artículo en Japonés | MEDLINE | ID: mdl-31308334

RESUMEN

RATIONALE: Standardized allergen extracts are recommended for allergen immunotherapy. Since 2015, for patients with house dust mite allergies, we used a standardized house dust mite extract for subcutaneous immunotherapy, rather than non-standardized house dust extract. This study hypothesizes that standardized house dust mite extract (HDM group) was superior to non-standardized house dust extract (HD group) for subcutaneous immunotherapy. METHODS: In this noninterventional, retrospective study, we enrolled patients with allergic rhinitis and sensitization to house dust mites. The HDM group (27 patients) received subcutaneous standardized extract immunotherapy since 2015, and the HD group (37 patients) received non-standardized extracts before 2015. We assessed the safety and efficacy between the two groups; the safety was assessed by the systemic reaction (SR) rate. The efficacy was assessed by reductions in the allergic rhinitis symptom-medication score, and the asthma treatment score, over a year. RESULTS: The SR rate of the HDM group (44%) was significantly higher than that (14%) of the HD group. The HDM group displayed a 57% reduction in the allergic rhinitis symptom-medication score, which was markedly higher than the 40% reduction observed in the HD group. In the standardized group, there was a 66% reduction occurred in the asthma medication score, markedly higher than the 36% reduction observed among patients in the HD group. CONCLUSIONS: Standardized house dust mite extract was more effective than non-standardized house dust extract for subcutaneous immunotherapy; however, the establishment of safer methods is warranted.


Asunto(s)
Desensibilización Inmunológica , Pyroglyphidae , Rinitis Alérgica/terapia , Animales , Niño , Polvo , Humanos , Estudios Retrospectivos
14.
Gan To Kagaku Ryoho ; 46(4): 766-768, 2019 Apr.
Artículo en Japonés | MEDLINE | ID: mdl-31164529

RESUMEN

We report successfull aparoscopic distalgastrectomy in a patient with early gastric cancer and an Adachi type Ⅵ arterial variant. The case is a male in his 50's who was detected a type 0-Ⅱc lesion on the antrum of the stomach and diagnosed as tub2. Laparoscopic distalgastrectomy was performed, with the pathologic diagnosis of cT1bN0M0, cStage Ⅰ. MD-CT showed absence of the common hepatic artery ventralto the portalvein, consistent with an Adachi type Ⅵ arterialvariant. The interface between pancreatic and fatty tissue was separated in suprapancreatic dissection, and was extended between the hepatoduodenal ligament and splenic artery, with exposure of the surface of the portal vein. Thus, safe dissection of No. 8a area was achieved. Discussion: Adachi classified the celiac artery branches into 6 types and 28 groups. Type Ⅵ, a variant of the common hepatic artery located on the dorsalaspect of the portalvein, has a reported frequency of 2%. Because it is a variant of the hepatic artery, a landmark of suprapancreatic dissection, careful observation is required to determine the anatomy. Although tactile sensation is limited in laparoscopic surgery, arterial pulsation is clearly visible. To ensure a safe procedure, it is important to identify vesselanatomy both pre- and intraoperatively.


Asunto(s)
Laparoscopía , Neoplasias Gástricas , Gastrectomía , Humanos , Masculino , Persona de Mediana Edad , Arteria Esplénica , Neoplasias Gástricas/cirugía
15.
Mol Clin Oncol ; 10(6): 625-630, 2019 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-31031979

RESUMEN

The aim of the present retrospective study was to investigate the predictability of dual-energy computed tomography (DECT) for pararectal lymph node (PRLN) metastasis and lateral pelvic lymph node (LPLN) metastasis in rectal cancer (RC). The present study involved 44 patients with RC who were examined by DECT and then underwent surgery between May 2015 and September 2017. LPLN dissection was performed in 24 patients. The normalized iodine concentration (nIC), the ratio of iodine concentration in the lymph node (LN) to that in the common iliac artery on DECT, of the largest PRLN and LPLN was calculated, and the association between LN metastasis and nIC was analyzed. The median nIC value for PRLNs was significantly lower in PRLN metastasis-positive cases compared with PRLN metastasis-negative cases in the arterial phase [0.18 vs. 0.25; P=0.01; cut-off, 0.24; area under the curve (AUC), 0.733] and portal phase (0.47 vs. 0.61; P=0.03; cut-off, 0.59; AUC, 0.701). A significant difference was not identified between the median maximum short axis diameter of PRLNs in PRLN metastasis-positive and metastasis-negative cases (7.6 vs. 6.4 mm; P=0.33). The nIC for LPLNs was not significantly different between LPLN metastasis-positive and metastasis-negative cases in the arterial phase (0.15 vs. 0.21; P=0.19); but was significantly lower in LPLN metastasis-positive cases compared with LPLN metastasis-negative cases in the portal phase (0.29 vs. 0.56; P=0.04; cut-off, 0.29; AUC, 0.877). The maximum short axis diameter of LPLNs was significantly larger in metastasis-positive cases compared with LPLN metastasis-negative cases (9.1 vs. 4.8 mm; P=0.03; cut-off, 7.0 mm; AUC, 0.912). In conclusion, the nIC was identified to be significantly lower in metastasis-positive cases, which may be useful for the prediction of PRLN and LPLN metastases. A combination of size-based diagnosis and DECT may increase the accuracy of preoperative diagnosis.

16.
Surg Case Rep ; 4(1): 136, 2018 Nov 26.
Artículo en Inglés | MEDLINE | ID: mdl-30478748

RESUMEN

BACKGROUND: Necrotizing fasciitis (NF) caused by colorectal cancer is rare, and very few cases associated with colon cancer have been reported. We describe the case of a patient with NF in the left thigh due to penetration of descending colon cancer who was treated with one-stage surgical resection without creating a stoma. CASE PRESENTATION: An 80-year-old woman was brought to our hospital complaining of fever and difficulty with body movement. A physical examination showed subcutaneous emphysema from the left lower abdomen to the left femoral region. CT showed abscess formation with emphysema around the descending colon, and the wall of the descending colon was thickened, which led to suspicion of colon cancer. The patient was subsequently diagnosed with NF due to penetration of descending colon cancer. Left hemicolectomy and open drainage of the left femoral region was performed. The histopathological findings were well-differentiated adenocarcinoma, with the tumor grown through the serosa (T4a) and with no metastasis to lymph nodes (N0). After surgery, the patient received intensive care for septic shock and lavage of the open drainage site, and sepsis was controlled progressively. After closure of the drainage site, the patient was transferred to a different hospital at 26 days after surgery, and she has had 6-month relapse-free survival. CONCLUSIONS: In NF caused by colon cancer, early one-stage resection may improve the oncological outcome. Physical status should be assessed carefully, and one-stage resection should be considered if the patient has the capacity to undergo this procedure.

17.
World J Surg Oncol ; 16(1): 227, 2018 Nov 19.
Artículo en Inglés | MEDLINE | ID: mdl-30453967

RESUMEN

BACKGROUND: Calcifying nested stromal epithelial tumor (CNSET) is a primary neoplasm of the liver, characterized by well-demarcated nests consisting of spindle and epithelioid cells with calcification and bone formation. An association of Cushing syndrome with CNSET has drawn attention, but the origin of CNSET has not been clarified. CASE PRESENTATION: We report here the case of a 20-year-old male with Klinefelter syndrome who underwent liver resection for an increasing liver tumor that was pathologically diagnosed with CNSET. He was postoperatively followed up and received several examinations, and recurrences and extrahepatic lymph node metastases were detected on the 64th day after surgery. Chemoembolization and chemotherapy were not effective, leading to tumor progression with development of progressive liver failure, and the patient finally died 164 days after hepatectomy. CONCLUSIONS: This case suggests that an imbalance of hormones affects the genesis and progression of CNSET, and indicates the importance of closely following patients with CNSET by imaging with attention to hepatic recurrence and extrahepatic metastases.


Asunto(s)
Calcinosis/patología , Células Epiteliales/patología , Síndrome de Klinefelter/patología , Neoplasias Hepáticas/patología , Recurrencia Local de Neoplasia/patología , Neoplasias Complejas y Mixtas/patología , Células del Estroma/patología , Adulto , Calcinosis/complicaciones , Calcinosis/terapia , Terapia Combinada , Embolización Terapéutica , Resultado Fatal , Hepatectomía , Humanos , Síndrome de Klinefelter/complicaciones , Síndrome de Klinefelter/terapia , Neoplasias Hepáticas/complicaciones , Neoplasias Hepáticas/terapia , Metástasis Linfática , Masculino , Recurrencia Local de Neoplasia/complicaciones , Recurrencia Local de Neoplasia/terapia , Neoplasias Complejas y Mixtas/complicaciones , Neoplasias Complejas y Mixtas/terapia , Adulto Joven
18.
J Clin Med Res ; 10(5): 437-444, 2018 May.
Artículo en Inglés | MEDLINE | ID: mdl-29581807

RESUMEN

BACKGROUND: Patients with liver cirrhosis often exhibit zinc deficiency. Although zinc is involved in many bioactivities, many aspects of clinical implications of zinc deficiency in liver cirrhosis remain unclear. We aimed to reveal the prevalence and implications of zinc deficiency in liver cirrhosis by assessing associations with parameters such as clinical symptoms and laboratory data. METHODS: In 235 cirrhosis patients enrolled at multiple medical institutions in 2009, we assessed how blood zinc levels were associated with their clinical symptoms, patients characteristics, and liver function test results. RESULTS: Blood zinc levels were most strongly correlated with blood albumin levels among the study parameters (r = 0.587, P < 0.0001). When blood albumin levels were ≤ 3.5 g/dL, blood zinc levels were < 70 µg/dL in 88% of patients. Additionally, significant correlations were observed with age (r = -0.253, P = 0.0014), aspartate aminotransferase levels (r = -0.254, P = 0.0020), total bilirubin levels (r = -0.222, P = 0.0053), prothrombin time (r = -0.255, P = 0.0029), branched-chain amino acid to tyrosine ratio (r = 0.357, P < 0.0001), Child-Pugh score (r = 0.469, P < 0.0001), ammonia levels (r = -0.246, P = 0.0028), and total cholesterol levels (r = 0.314, P < 0.0001). Blood zinc levels were significantly lower in patients with edema/ascites (P < 0.0001), those with hepatic encephalopathy (P = 0.0215), those receiving oral diuretics (P = 0.0045), and those receiving oral branched-chain amino acids (P < 0.0001) than in those without these conditions. CONCLUSIONS: Zinc deficiency is prevalent in cirrhosis patients, whereas nitrogen metabolic disorders, particularly hypoalbuminemia, can be an indicator of zinc deficiency. Thus, cirrhosis patients exhibiting a nitrogen metabolic disorder should be examined for the presence of zinc deficiency.

19.
Gan To Kagaku Ryoho ; 45(2): 333-335, 2018 Feb.
Artículo en Japonés | MEDLINE | ID: mdl-29483438

RESUMEN

Myocardial metastasis for esophageal squamous cell carcinoma(ESCC)is relatively rare and it is diagnosed as a part of widespread metastasis in the terminal stage. We experienced a case of myocardial metastasis of ESCC treated effectively with chemoradiotherapy. A 56-year-old man was diagnosed ESCC(clinical T3N2M0, Stage III). He received neoadjuvant chemotherapy of 5-fluorouracil plus cisplatin followed by subtotal esophagectomy with dissection of the 3 regional lymph nodes. The pathological diagnosis was moderate differentiated squamous cell carcinoma, CT-pT3(T3), pN1, sM0, fStage III. Four months after surgery, he had no clinical symptom, however myocardial metastasis located in the apex was detected on the follow up positron emission tomography(PET). Chemoradiotherapy was performed for the myocardial metastasis. Myocardial metastasis treated effectively with chemoradiotherapy almost disappeared on the PET and computed tomography taken 3 months after chemoradiotherapy. He died, however, of multiple liver and bone metastases 15 months after the initial surgery.


Asunto(s)
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Carcinoma de Células Escamosas/terapia , Quimioradioterapia , Neoplasias Esofágicas/terapia , Neoplasias Cardíacas/terapia , Cisplatino/administración & dosificación , Carcinoma de Células Escamosas de Esófago , Esofagectomía , Resultado Fatal , Fluorouracilo/administración & dosificación , Neoplasias Cardíacas/secundario , Humanos , Masculino , Persona de Mediana Edad
20.
Gan To Kagaku Ryoho ; 45(13): 1803-1805, 2018 Dec.
Artículo en Japonés | MEDLINE | ID: mdl-30692359

RESUMEN

INTRODUCTION: Progressive lower rectal cancer with metastasis to the lateral lymph nodes has poor prognosis, requiring systemic chemotherapy. In addition, because laparoscopic lateral lymph node dissection(LLND)in positive cases of metastasis to the lateral lymph nodes is difficult, it has not been commonly used. Here, we report the treatment results of neoadjuvant chemotherapy(NAC)and subsequent laparoscopic total mesorectal excision(TME)plus LLND in cases of lower rectal cancer with metastasis to the lateral lymph nodes. SUBJECTS AND METHODS: The subjects were 4 patients with metastasis to the lateral lymph nodes who underwent LLND after NAC. The surgical outcomes were investigated retrospectively. RESULTS: The mean surgical time was 398 minutes, and the mean bleeding amount was 150 g. In total, 33.5 lymph nodes were dissected, including 15.3 lateral lymph nodes. There was no switch to laparotomy, and no postoperative complications of Grade Ⅲ or higher according to the Clavien-Dindo classification were observed. CONCLUSION: Laparoscopic TME plus LLND after NAC is considered safe and useful as radical surgery for positive cases of metastasis to the lymph nodes.


Asunto(s)
Escisión del Ganglio Linfático , Neoplasias del Recto , Humanos , Ganglios Linfáticos , Metástasis Linfática , Terapia Neoadyuvante , Neoplasias del Recto/cirugía , Estudios Retrospectivos , Resultado del Tratamiento
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