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1.
J Neurooncol ; 159(2): 397-408, 2022 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-35779193

RESUMEN

PURPOSE: IDH-wildtype (IDHwt) diffuse gliomas are treated as glioblastoma, however, some of these may show less aggressive clinical courses. The authors investigated the clinical, histopathological, and molecular characteristics of such IDHwt indolent diffuse gliomas (iDGwt), which have not been well documented in the literature. METHODS: Adult patients with IDHwt gliomas admitted between 2011 and 2020 were surveyed. In this particular study, the clinical indolence was defined mainly as having a small enhancing lesion and a stable period for more than 1 month before surgery. The current WHO diagnostic criteria were adapted for the diagnoses. Gene mutations and copy number changes in 43 representative glioma-associated genes, MGMT promoter methylation status, and survival data were compared with those of The Cancer Genome Atlas reference cohort. RESULTS: Nine out of 180 surveyed cases (5.0%) fulfilled the present criteria of the iDGwt. Considering the representative regulatory pathways, 8 (88.9%), 4 (44.4%), and 1 (11.1%) case had genetic alterations in the PI3K/MAPK, TP53, and RB pathways, respectively. The frequency of the RB pathway alteration was significantly lower than that in the reference cohort (281 of 362 cases: 77.6%). Two cases (22.2%) showing EGFR amplification met the diagnostic criteria for glioblastoma, and the frequency was significantly lower than that in the reference cohort (412 of 426 cases: 96.7%). The overall survival (median: 37.5 months) in the present series was significantly longer than that in the reference cohort (n = 426, median: 13.9 months). CONCLUSIONS: iDGwt lacked the molecular features of glioblastoma except for the PI3K/MAPK pathway alteration.


Asunto(s)
Neoplasias Encefálicas , Glioblastoma , Glioma , Adulto , Neoplasias Encefálicas/genética , Glioblastoma/genética , Glioma/genética , Humanos , Isocitrato Deshidrogenasa/genética , Estimación de Kaplan-Meier , Mutación , Fosfatidilinositol 3-Quinasas , Pronóstico
2.
Pediatr Surg Int ; 37(12): 1765-1772, 2021 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-34476538

RESUMEN

PURPOSE: It is difficult to perform intestinal anastomosis in low-birth-weight infants because the intestinal diameter is small and the discrepancy in diameter of the proximal and distal intestines is often large, but there has been no optimal-sized training model. Therefore, we developed a new intestinal anastomosis training model that imitated the size of the intestine in low-birth-weight infants, and evaluated its face and construct validity. METHODS: Two intestinal models were developed with crossMedical, Inc. using a hydrophilic acrylic material (wet model) or a polyurethane soft resin (dry model). The inner diameter of the simulated intestinal tract was 15 mm on the oral end and 6 mm on the anal end. Thirteen pediatric surgeons performed anastomosis and responded to the questionnaire. RESULTS: In the questionnaire, the wet model had significantly higher scores than the dry model in "appearance", "softness" and "usefulness for training". In the anastomotic results of the wet model, the anastomosis leak pressure was significantly correlated with the number of intestinal anastomotic experiences in low-birth-weight infants (correlation coefficient = 0.64, P = 0.035). CONCLUSIONS: The wet-type intestinal anastomosis model showed good face validity. Its leak pressure had a significant correlation with clinical experience; thus, construct validity was demonstrated.


Asunto(s)
Procedimientos Quirúrgicos del Sistema Digestivo , Anastomosis Quirúrgica , Fuga Anastomótica/epidemiología , Niño , Humanos , Lactante , Recién Nacido de Bajo Peso , Recién Nacido , Intestinos/cirugía
3.
Pediatr Int ; 62(3): 257-304, 2020 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-32202048

RESUMEN

The objective was to prepare guidelines to perform the current optimum treatment by organizing effective and efficient treatments of hemangiomas and vascular malformations, confirming the safety, and systematizing treatment, employing evidence-based medicine (EBM) techniques and aimed at improvement of the outcomes. Clinical questions (CQs) were decided based on the important clinical issues. For document retrieval, key words for literature searches were set for each CQ and literature published from 1980 to the end of September 2014 was searched in Pubmed, Cochrane Library, and Japana Centra Revuo Medicina (JCRM). The strengths of evidence and recommendations acquired by systematic reviews were determined following the Medical Information Network Distribution System (MINDS) technique. A total of 33 CQs were used to compile recommendations and the subjects included efficacy of resection, sclerotherapy/embolization, drug therapy, laser therapy, radiotherapy, and other conservative treatment, differences in appropriate treatment due to the location of lesions and among symptoms, appropriate timing of treatment and tests, and pathological diagnosis deciding the diagnosis. Thus, the Japanese Clinical Practice Guidelines for Vascular Anomalies 2017 have been prepared as the evidence-based guidelines for the management of vascular anomalies.


Asunto(s)
Hemangioma/terapia , Malformaciones Vasculares/terapia , Malformaciones Arteriovenosas/terapia , Embolización Terapéutica/métodos , Medicina Basada en la Evidencia , Humanos , Terapia por Láser/métodos , Escleroterapia/métodos , Resultado del Tratamiento
4.
Acta Neurochir (Wien) ; 162(12): 3019-3024, 2020 12.
Artículo en Inglés | MEDLINE | ID: mdl-32785787

RESUMEN

Oligodendroglioma is defined by IDH mutation and 1p/19q codeletion. Normal TP53 status is also its molecular feature. We report a case of oligodendroglioma that acquired imbalanced 1p/19q codeletion and TP53 mutation at recurrence after temozolomide therapy. The primary and recurrent tumors shared IDH1 and TERT promoter mutations. Although 1p/19q was codeleted in the primary tumor, it was imbalanced in the recurrent tumor harboring TP53 mutation. The copy-neutral loss of heterozygosity might have imbalanced the 1p/19q codeletion, while temozolomide therapy possibly caused the TP53 mutation. Such phenomena, although rare, should be noted during the clinical treatment of oligodendrogliomas.


Asunto(s)
Neoplasias Encefálicas/genética , Isocitrato Deshidrogenasa/genética , Mutación , Oligodendroglioma/genética , Proteína p53 Supresora de Tumor/genética , Adulto , Antineoplásicos Alquilantes/uso terapéutico , Neoplasias Encefálicas/tratamiento farmacológico , Neoplasias Encefálicas/patología , Femenino , Humanos , Recurrencia Local de Neoplasia , Oligodendroglioma/tratamiento farmacológico , Oligodendroglioma/patología , Temozolomida/uso terapéutico
5.
No Shinkei Geka ; 48(10): 941-947, 2020 Oct.
Artículo en Japonés | MEDLINE | ID: mdl-33071231

RESUMEN

The 2016 World Health Organization brain tumor classification update may change the clinical approach toward treatment of diffuse astrocytoma(DA). Thus, more information about such cases is required. We report a case of DA, which was previously diagnosed as oligoastrocytoma. The tumor showed malignant progression after long-term temozolomide monotherapy. A 78-year-old woman presented with forgetfulness and decreased activity 12 years ago. MRI identified a T2-hyperintense lesion in the right frontal lobe. Histological diagnosis following partial resection was oligoastrocytoma. The residual tumor shrank after 65 courses of maintenance temozolomide monotherapy, which was terminated five years ago. The remaining lesion started enlarging gradually two years ago, showing enhancement on post-contrast T1WI and hyperintensity on arterial spin labeling, indicating malignant progression. The patient underwent maximum resection. The primary and the recurrent tumors were histologically reviewed. The former comprised of oligodendroglial and astrocytic tumor cells positive for IDH1R132H mutations and negative for ATRX mutations. The Ki67 index was 2.6%. Using the MethylationEPIC array, we generated a copy number profile and confirmed that the 1p/19q status was intact. The patient was ultimately diagnosed with IDH-mutant DA. The recurrent tumor showed marked proliferation of atypical glial cells with microvascular proliferation and the same immunophenotype as the primary tumor, with a Ki67 index of 13.1%. Thus, it was diagnosed as an IDH-mutant anaplastic astrocytoma and was treated with postoperative radiochemotherapy. Currently, multimodal therapy selection may be performed during initial treatment. Thus, an integrated diagnostic approach based on both histological and molecular findings is essential to identify the optimal treatment.


Asunto(s)
Astrocitoma , Neoplasias Encefálicas , Anciano , Astrocitoma/diagnóstico por imagen , Astrocitoma/tratamiento farmacológico , Astrocitoma/cirugía , Neoplasias Encefálicas/diagnóstico por imagen , Femenino , Humanos , Isocitrato Deshidrogenasa , Recurrencia Local de Neoplasia , Temozolomida/uso terapéutico
6.
No Shinkei Geka ; 48(7): 587-594, 2020 Jul.
Artículo en Japonés | MEDLINE | ID: mdl-32694227

RESUMEN

BACKGROUND: Growing teratoma syndrome(GTS)is the progression of a mature teratoma during or following radiochemotherapy for germ cell tumors. We report two surgical cases of GTS. CASE 1: A 24-day-old new-born presented with vomiting and head enlargement. Blood alfa-feto protein(AFP)and beta-human chorionic gonadotropin(ß-hCG)were within or at the upper limits of the normal ranges. Magnetic Resonance Imaging(MRI)demonstrated a large mass in the posterior fossa causing the severe hydrocephalus. Tumor removal was immediately performed. Histological diagnosis given was immature teratoma. While chemotherapy effectively reduced the level of tumor makers, multiple recurrence was noticed on MRI 70 days after the surgery. GTS was suspected and total removal was performed. Histological examination revealed a mature teratoma. The patient is growing normally thereafter, 2.5 years after the onset. CASE 2: A 16-year-old male presented with binasal hemianopsia. Blood AFP and ß-hCG were within or at the upper limits of the normal ranges. MRI demonstrated an intrasellar mass protruding upward. Tumor removal was performed and histological diagnosis given was mixed germ cell tumor. While radiochemotherapy effectively normalized the tumor makers, recurrence was noticed on MRI 190 days after the surgery. Total removal was performed with the diagnosis of GTS. Histological examination revealed a mature teratoma. The patient lives a normal school life thereafter as followed up after a year after the onset. CONCLUSION: It is important to diagnose and perform the surgery early enough to enable total removal of the mass presenting as GTS because total surgical removal is the only treatment for GTS.


Asunto(s)
Neoplasias de Células Germinales y Embrionarias , Teratoma , Adolescente , Humanos , Imagen por Resonancia Magnética , Masculino , Recurrencia Local de Neoplasia , Síndrome
7.
Pediatr Int ; 56(4): e48-51, 2014 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-25252072

RESUMEN

X-linked alpha thalassemia mental retardation (ATR-X) syndrome is an X-linked recessive disorder that often involves gastrointestinal symptoms. Aspiration pneumonia related to gastroesophageal reflux has been reported as the major cause of death, but gastrointestinal function has not been well investigated. The present report describes a child with ATR-X syndrome who suffered from periodical episodes of refractory vomiting. We investigated the function of upper alimentary tract and found that esophago-gastric dysmotility and severe gastric volvulus were the major causes of gastrointestinal symptoms. This child was surgically treated with anterior gastropexy and jejunal alimentation through gastrostomy, and the symptoms were relieved with good weight gain. This report may provide insight into the gastrointestinal function and nutritional management in children with ATR-X syndrome.


Asunto(s)
Esófago/fisiopatología , Discapacidad Intelectual Ligada al Cromosoma X/fisiopatología , Estómago/fisiopatología , Talasemia alfa/fisiopatología , Trastornos de la Motilidad Esofágica/complicaciones , Humanos , Recién Nacido , Masculino
8.
Surg Today ; 44(10): 1962-5, 2014 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-23801057

RESUMEN

We herein report the efficacy of FDG-PET for detecting yolk sac tumors in two teenage patients. One patient had a rare bone metastasis and the other had tiny recurrent lesions at the mediastinum. Both lesions were difficult to detect by conventional diagnostic modalities. In contrast, FDG-PET was very effective for detecting these lesions. Furthermore, the SUVmax of the lesion reflected the tumor activity, which was also suggested by the fluctuating values of serum alpha-fetoprotein (AFP), an established marker of yolk sac tumors. FDG-PET may be a useful procedure to detect tiny and metastatic, pediatric yolk sac tumors.


Asunto(s)
Neoplasias Óseas/diagnóstico por imagen , Neoplasias Óseas/secundario , Tumor del Seno Endodérmico/diagnóstico por imagen , Tumor del Seno Endodérmico/secundario , Neoplasias del Mediastino/diagnóstico por imagen , Recurrencia Local de Neoplasia/diagnóstico por imagen , Neoplasias Ováricas/diagnóstico por imagen , Adolescente , Biomarcadores de Tumor/sangre , Femenino , Radioisótopos de Flúor , Fluorodesoxiglucosa F18 , Humanos , Masculino , Neoplasias Ováricas/patología , Tomografía de Emisión de Positrones , Radiofármacos , alfa-Fetoproteínas
9.
Commun Med (Lond) ; 4(1): 111, 2024 Jun 11.
Artículo en Inglés | MEDLINE | ID: mdl-38862768

RESUMEN

BACKGROUND: Biliary atresia (BA) is an intractable disease of unknown cause that develops in the neonatal period. It causes jaundice and liver damage due to the destruction of extrahepatic biliary tracts,. We have found that heterozygous knockout mice of the SRY related HMG-box 17 (Sox17) gene, a master regulator of stem/progenitor cells in the gallbladder wall, exhibit a condition like BA. However, the precise contribution of hypoplastic gallbladder wall to the pathogenesis of hepatobiliary disease in Sox17 heterozygous embryos and human BA remains unclear. METHODS: We employed cholangiography and histological analyses in the mouse BA model. Furthermore, we conducted a retrospective analysis of human BA. RESULTS: We show that gallbladder wall hypoplasia causes abnormal multiple connections between the hilar hepatic bile ducts and the gallbladder-cystic duct in Sox17 heterozygous embryos. These multiple hilar extrahepatic ducts fuse with the developing intrahepatic duct walls and pull them out of the liver parenchyma, resulting in abnormal intrahepatic duct network and severe cholestasis. In human BA with gallbladder wall hypoplasia (i.e., abnormally reduced expression of SOX17), we also identify a strong association between reduced gallbladder width (a morphometric parameter indicating gallbladder wall hypoplasia) and severe liver injury at the time of the Kasai surgery, like the Sox17-mutant mouse model. CONCLUSIONS: Together with the close correlation between gallbladder wall hypoplasia and liver damage in both mouse and human cases, these findings provide an insight into the critical role of SOX17-positive gallbladder walls in establishing functional bile duct networks in the hepatic hilus of neonates.


Biliary atresia (BA) is a disease in newborns that causes a serious liver condition due to damage to the bile ducts (the pathways that carry bile juice). Although reduced function of a key gene called Sox17, which is essential for forming the gallbladder wall, has been observed in some BA cases, the link between gallbladder issues and liver damage is unknown. This study has shown how damage spreads through the bile ducts in the liver around the time of birth when there are problems in the gallbladder wall due to reduced SOX17 function. The findings indicate that proper growth of the gallbladder wall during this critical period is essential for forming a normal network of bile ducts in the developing liver. This discovery is promising for early diagnosis and better treatment of BA in newborns.

10.
Pediatr Int ; 55(4): e93-5, 2013 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-23910816

RESUMEN

Milk curd syndrome was first reported in the 1960s, but was gradually forgotten because of its low incidence thereafter. This condition in pre-term infants has been reported over the last decade and has again attracted neonatologists' attention. The present report describes a pre-term infant with milk curd syndrome. Abdominal distension was evident 14 days after the start of feeding with fortified expressed milk. Abdominal X-ray showed multiple intraluminal masses surrounded by a halo of air, and ultrasound indicated hyperechoic masses. Along with that history and the appearance of fecal impaction, the diagnosis of milk curd syndrome was confirmed. This baby was treated with olive oil enemas and successive colonic lavage for 3 days, and the symptoms were relieved. Olive oil enema, which softens hard stools and induces smooth movement of these stools, may be an effective and safe first-line treatment in pre-term infants with milk curd syndrome.


Asunto(s)
Enfermedades del Colon/terapia , Enema/métodos , Enfermedades del Prematuro/terapia , Obstrucción Intestinal/terapia , Aceites de Plantas/administración & dosificación , Enfermedades del Colon/diagnóstico , Diagnóstico Diferencial , Humanos , Recién Nacido , Recien Nacido Prematuro , Enfermedades del Prematuro/diagnóstico , Obstrucción Intestinal/diagnóstico , Masculino , Aceite de Oliva , Radiografía Abdominal , Síndrome
11.
Surg Today ; 43(11): 1330-2, 2013 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-23266752

RESUMEN

Congenital prepubic sinus is a rare congenital anomaly situated in the midline of the lower abdomen. We report a case of congenital prepubic sinus, closely associated with a urachal remnant. Preoperative magnetic resonance imaging showed clearly that the sinus tracked the urachus caudally. This finding supports the theory that the anomaly is caused by abnormal remnant tissue originating from the cloacal membrane, which tracks the allantois duct caudally along with fetal longitudinal growth.


Asunto(s)
Alantoides/cirugía , Cloaca/anomalías , Cloaca/cirugía , Uraco/anomalías , Uraco/cirugía , Alantoides/anomalías , Alantoides/patología , Cloaca/patología , Femenino , Humanos , Lactante , Imagen por Resonancia Magnética , Uraco/patología
12.
J Neurosurg Case Lessons ; 6(1)2023 Jul 03.
Artículo en Inglés | MEDLINE | ID: mdl-37392767

RESUMEN

BACKGROUND: The etiological significance of the RAS and PI3K pathways has been reported in systemic embryonal rhabdomyosarcoma (ERMS) but not in primary intracranial ERMS (PIERMS). Herein, the authors present a unique case of PIERMS with a BRAF mutation. OBSERVATIONS: A 12-year-old girl with progressive headache and nausea was diagnosed with a tumor in the right parietal lobe. Semi-emergency surgery revealed an intra-axial lesion that was histopathologically identical to an ERMS. Next-generation sequencing indicated a BRAF mutation as a pathogenic variation, but the RAS and PI3K pathways showed no alteration. Although there is no established reference class for PIERMS, the DNA methylation prediction was closest to that of ERMS, indicating the possibility of PIERMS. The final diagnosis was PIERMS. The patient underwent local radiotherapy (50.4 Gy) and multiagent chemotherapy, with no recurrence for 12 months after surgery. LESSONS: This may be the first case demonstrating the molecular features of PIERMS, especially the intra-axial type. The results showed a mutation in BRAF but not in the RAS and PI3K pathways, which is different from the existing ERMS features. This molecular difference may cause differences in DNA methylation profiles. Accumulation of the molecular features of PIERMS is necessary before any conclusions can be drawn.

13.
Biomolecules ; 13(10)2023 10 23.
Artículo en Inglés | MEDLINE | ID: mdl-37892242

RESUMEN

No standard diagnostic method or surgical treatment for congenital isolated hypoganglionosis (CIHG) has been established. This study aimed to analyze the clinical outcomes of patients with CIHG and identify the best surgical interventions provided thus far. Data on surgical interventions in 19 patients were collected between 1992 and 2020, including the type of enterostomy, type of revision, and length of the intestines. Ganglion cells in the myenteric plexus were enumerated using Hu C/D staining. The ratio of the length of the small intestine to its height was defined as the intestinal ratio (IR). The outcomes were assessed using the stoma output, growth parameters including the body mass index (BMI), and parenteral nutrition (PN) dependency. All patients required a diverting enterostomy. The IR ranged from 0.51 to 1.75 after multiple non-transplant surgeries. The stoma types were tube-stoma, end-stoma, Santulli-type, and Bishop-Koop (BK)-type. Patients with Santulli- or BK-type stomas had better BMIs and less PN dependency in terms of volume than those with end-stomas or tube-stomas. Two patients with BK-type stomas were off PN, and three who underwent an intestinal transplantation (Itx) achieved enteral autonomy. The management of CIHG involves a precise diagnosis using Hu C/D staining, neonatal enterostomy, and stoma revision using the adjusted IR and Itx if other treatments do not enable enteral autonomy.


Asunto(s)
Enterostomía , Estomas Quirúrgicos , Recién Nacido , Humanos , Estudios de Cohortes , Estudios Retrospectivos , Intestinos/cirugía , Enterostomía/efectos adversos
14.
Cell Death Dis ; 14(6): 358, 2023 06 13.
Artículo en Inglés | MEDLINE | ID: mdl-37308486

RESUMEN

Transglutaminase 2 (TG2) is a multifunctional protein that promotes or suppresses tumorigenesis, depending on intracellular location and conformational structure. Acyclic retinoid (ACR) is an orally administered vitamin A derivative that prevents hepatocellular carcinoma (HCC) recurrence by targeting liver cancer stem cells (CSCs). In this study, we examined the subcellular location-dependent effects of ACR on TG2 activity at a structural level and characterized the functional role of TG2 and its downstream molecular mechanism in the selective depletion of liver CSCs. A binding assay with high-performance magnetic nanobeads and structural dynamic analysis with native gel electrophoresis and size-exclusion chromatography-coupled multi-angle light scattering or small-angle X-ray scattering showed that ACR binds directly to TG2, induces oligomer formation of TG2, and inhibits the transamidase activity of cytoplasmic TG2 in HCC cells. The loss-of-function of TG2 suppressed the expression of stemness-related genes, spheroid proliferation and selectively induced cell death in an EpCAM+ liver CSC subpopulation in HCC cells. Proteome analysis revealed that TG2 inhibition suppressed the gene and protein expression of exostosin glycosyltransferase 1 (EXT1) and heparan sulfate biosynthesis in HCC cells. In contrast, high levels of ACR increased intracellular Ca2+ concentrations along with an increase in apoptotic cells, which probably contributed to the enhanced transamidase activity of nuclear TG2. This study demonstrates that ACR could act as a novel TG2 inhibitor; TG2-mediated EXT1 signaling is a promising therapeutic target in the prevention of HCC by disrupting liver CSCs.


Asunto(s)
Carcinoma Hepatocelular , Neoplasias Hepáticas , Humanos , Proteína Glutamina Gamma Glutamiltransferasa 2 , Células Madre Neoplásicas , Glicosiltransferasas
15.
J Biol Chem ; 286(21): 18526-37, 2011 May 27.
Artículo en Inglés | MEDLINE | ID: mdl-21454696

RESUMEN

The possible roles of Src family kinases in the enhanced malignant properties of melanomas related to GD3 expression were analyzed. Among Src family kinases only Yes, not Fyn or Src, was functionally involved in the increased cell proliferation and invasion of GD3-expressing transfectant cells (GD3+). Yes was located upstream of p130Cas and paxillin and at an equivalent level to focal adhesion kinase. Yes underwent autophosphorylation even before serum treatment and showed stronger kinase activity in GD3+ cells than in GD3- cells following serum treatment. Coimmunoprecipitation experiments revealed that Yes bound to focal adhesion kinase or p130Cas more strongly in GD3+ cells than in GD3- cells. As a possible mechanism for the enhancing effects of GD3 on cellular phenotypes, it was shown that majority of Yes was localized in glycolipid-enriched microdomain/rafts in GD3+ cells even before serum treatment, whereas it was scarcely detected in glycolipid-enriched microdomain/rafts in GD3- cells. An in vitro kinase assay of Yes revealed that coexistence of GD3 with Yes in membranous environments enhances the kinase activity of GD3- cell-derived Yes toward enolase, p125, and Yes itself. Knockdown of GD3 synthase resulted in the alleviation of tumor phenotypes and reduced activation levels of Yes. Taken together, these results suggest a role of GD3 in the regulation of Src family kinases.


Asunto(s)
Gangliósidos/biosíntesis , Regulación Neoplásica de la Expresión Génica , Melanoma/metabolismo , Microdominios de Membrana/metabolismo , Proteínas Proto-Oncogénicas c-yes/metabolismo , Línea Celular Tumoral , Proteína Sustrato Asociada a CrK/genética , Proteína Sustrato Asociada a CrK/metabolismo , Activación Enzimática/genética , Proteína-Tirosina Quinasas de Adhesión Focal/genética , Proteína-Tirosina Quinasas de Adhesión Focal/metabolismo , Gangliósidos/genética , Técnicas de Silenciamiento del Gen , Humanos , Melanoma/genética , Microdominios de Membrana/genética , Fosfopiruvato Hidratasa/genética , Fosfopiruvato Hidratasa/metabolismo , Proteínas Proto-Oncogénicas c-yes/genética , Sialiltransferasas/genética , Sialiltransferasas/metabolismo
16.
Pediatr Int ; 54(6): 899-904, 2012 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-23039856

RESUMEN

BACKGROUND: Plasma citrulline has been reported to be a good indicator of intestinal functional volume in patients with intestinal dysfunction. We reconfirmed the facts and also investigated the dynamic changes of plasma citrulline in acute-phase patients with intestinal dysfunction. METHODS: We measured plasma citrulline in six patients with intestinal dysfunction who were in the acute and chronic phase for more than 6 months. RESULTS: Four patients out of six could be withdrawn from total parenteral nutrition, and their plasma citrulline level dynamically changed according to their intestinal states and finally increased up to 15 nmol/mL. Two patients, who could not be withdrawn from parenteral nutrition, showed very low levels of plasma citrulline throughout the treatment course (under 15 nmol/mL). CONCLUSION: The cut-off level of plasma citrulline indicating permanent intestinal dysfunction may be 15 nmol/mL in our data. In the acute phase, plasma citrulline changed dynamically according to the intestinal state and may be a good indicator of fluctuating intestinal functions. Thus, although only a few patients were enrolled in this study, plasma citrulline may be a good indicator of stable-state as well as acute-unstable-state intestinal functions.


Asunto(s)
Citrulina/sangre , Tránsito Gastrointestinal/fisiología , Intestinos/fisiopatología , Nutrición Parenteral/métodos , Síndrome del Intestino Corto/sangre , Biomarcadores/sangre , Preescolar , Femenino , Estudios de Seguimiento , Humanos , Lactante , Recién Nacido , Masculino , Estudios Retrospectivos , Síndrome del Intestino Corto/fisiopatología , Síndrome del Intestino Corto/terapia
17.
NAR Genom Bioinform ; 4(3): lqac072, 2022 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-36159174

RESUMEN

Epithelial-mesenchymal transition (EMT) is a cellular process involved in development and disease progression. Intermediate EMT states were observed in tumors and fibrotic tissues, but previous in vitro studies focused on time-dependent responses with single doses of signals; it was unclear whether single-cell transcriptomes support stable intermediates observed in diseases. Here, we performed single-cell RNA-sequencing with human mammary epithelial cells treated with multiple doses of TGF-ß. We found that dose-dependent EMT harbors multiple intermediate states at nearly steady state. Comparisons of dose- and time-dependent EMT transcriptomes revealed that the dose-dependent data enable higher sensitivity to detect genes associated with EMT. We identified cell clusters unique to time-dependent EMT, reflecting cells en route to stable states. Combining dose- and time-dependent cell clusters gave rise to accurate prognosis for cancer patients. Our transcriptomic data and analyses uncover a stable EMT continuum at the single-cell resolution, and complementary information of two types of single-cell experiments.

18.
J Neurosurg Case Lessons ; 3(14)2022 Apr 04.
Artículo en Inglés | MEDLINE | ID: mdl-36303507

RESUMEN

BACKGROUND: Recent studies report that cerebellar glioblastoma (GBM) is categorized into the RTK1 methylation class. GBM pediatric RTK (pedRTK) subtypes are distinct from those of adult GBM. We present a unique adult case of cerebellar GBM classified into the pedRTK subtype. OBSERVATIONS: Magnetic resonance imaging revealed a homogeneous enhancing lesion in the right cerebellum in a 56-year-old woman presenting with ataxia and dizziness. Arterial spin labeling and angiographic findings and the intraoperative orange-colored tumor appearance were reminiscent of hemangioblastoma. She showed an atypical presentation in terms of high glucose metabolism. The histological diagnosis was high-grade glioma with differentiation similar to central nervous system neuroblastoma. The methylation class was GBM pedRTK1. Consistent with this classification, immunoexpression was positive for SOX10 and negative for ANKRD55. She underwent craniospinal radiotherapy (23.4 Gy) with a boost to the tumor bed (total 55.8 Gy). Twelve courses of temozolomide therapy were administered. There was no recurrence 18 months after surgery. LESSONS: Radiological and intraoperative findings, such as hemangioblastoma and high glucose metabolism, were notable characteristics in the present case. Both glial and neuronal differentiation and SOX10 immunoexpression were presenting pathological features. Similar cerebellar GBMs might form a previously unestablished subtype. Establishing effective molecular diagnoses is important.

19.
iScience ; 25(2): 103777, 2022 Feb 18.
Artículo en Inglés | MEDLINE | ID: mdl-35146392

RESUMEN

The analysis and interpretation of single-cell RNA sequencing (scRNA-seq) experiments are compromised by the presence of poor-quality cells. For meaningful analyses, such poor-quality cells should be excluded as they introduce noise in the data. We introduce SkewC, a quality-assessment tool, to identify skewed cells in scRNA-seq experiments. The tool's methodology is based on the assessment of gene coverage for each cell, and its skewness as a quality measure; the gene body coverage is a unique characteristic for each protocol, and different protocols yield highly different coverage profiles. This tool is designed to avoid misclustering or false clusters by identifying, isolating, and removing cells with skewed gene body coverage profiles. SkewC is capable of processing any type of scRNA-seq dataset, regardless of the protocol. We envision SkewC as a distinctive QC method to be incorporated into scRNA-seq QC processing to preclude the possibility of scRNA-seq data misinterpretation.

20.
Surg Case Rep ; 8(1): 162, 2022 Aug 29.
Artículo en Inglés | MEDLINE | ID: mdl-36036317

RESUMEN

BACKGROUND: Yolk sac tumor (YST) is a germ cell tumor that is generally associated with good prognosis in children. It has been recently reported that vaginal YSTs can be cured using chemotherapy alone. Thus, minimal invasiveness and function preservation are pre-requisites for surgical approaches. Herein, we report a case of vaginal YST that was resected in a function-preserving manner using a unique combination of surgical approaches. CASE PRESENTATION: In a 9-month-old Asian female infant, a vaginal tumor was detected while investigating for vaginal bleeding. The patient was referred to our hospital, and the tumor was diagnosed as a YST after incisional biopsy. Six courses of carboplatin-based chemotherapy were administered. Contrary to the findings in previous reports, the tumor was chemo-resistant and surgical resection was required for the residual tumor. During surgery, we utilized laparoscopic and endoscopic procedures to ensure tumor-free surgical margins at the cervix, rectum, and lateral wall of the vagina. Additionally, the posterior sagittal approach was used to easily resect the tumor, and the vagina was reconstructed leaving only inconspicuous scars in the intergluteal cleft. No complications occurred postoperatively. Pathological examination of the surgical specimen revealed tumor-free surgical margins. The patient received four cycles of intensified chemotherapy before and after the surgery. The patient has been disease-free for 6 months now. CONCLUSIONS: Our combination of laparo/endoscopic and posterior sagittal approach ensured a tumor-free macroscopic surgical margin with easier, cosmetically pleasing vaginal reconstruction, while preserving the anorectal and urinary functions. We believe that this approach could be utilized not only for vaginal YST, but also for any vaginal tumor, especially those arising from the posterior or lateral wall.

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