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1.
Radiol Imaging Cancer ; 5(6): e230036, 2023 11.
Artículo en Inglés | MEDLINE | ID: mdl-37999629

RESUMEN

Purpose To evaluate the feasibility of liver MR fingerprinting (MRF) for quantitative characterization and diagnosis of focal liver lesions. Materials and Methods This single-site, prospective study included 89 participants (mean age, 62 years ± 15 [SD]; 45 women, 44 men) with various focal liver lesions who underwent MRI between October 2021 and August 2022. The participants underwent routine clinical MRI, non-contrast-enhanced liver MRF, and reference quantitative MRI with a 1.5-T MRI scanner. The bias and repeatability of the MRF measurements were assessed using linear regression, Bland-Altman plots, and coefficients of variation. The diagnostic capability of MRF-derived T1, T2, T2*, proton density fat fraction (PDFF), and a combination of these metrics to distinguish benign from malignant lesions was analyzed according to the area under the receiver operating characteristic curve (AUC). Results Liver MRF measurements showed moderate to high agreement with reference measurements (intraclass correlation = 0.94, 0.77, 0.45, and 0.61 for T1, T2, T2*, and PDFF, respectively), with underestimation of T2 values (mean bias in lesion = -0.5%, -29%, 5.8%, and -8.2% for T1, T2, T2*, and PDFF, respectively). The median coefficients of variation for repeatability of T1, T2, and T2* values were 2.5% (IQR, 3.6%), 3.1% (IQR, 5.6%), and 6.6% (IQR, 13.9%), respectively. After considering multicollinearity, a combination of MRF measurements showed a high diagnostic performance in differentiating benign from malignant lesions (AUC = 0.92 [95% CI: 0.86, 0.98]). Conclusion Liver MRF enabled the quantitative characterization of various focal liver lesions in a single breath-hold acquisition. Keywords: MR Imaging, Abdomen/GI, Liver, Imaging Sequences, Technical Aspects, Tissue Characterization, Technology Assessment, Diagnosis, Liver Lesions, MR Fingerprinting, Quantitative Characterization Supplemental material is available for this article. © RSNA, 2023.


Asunto(s)
Neoplasias Hepáticas , Imagen por Resonancia Magnética , Masculino , Humanos , Femenino , Persona de Mediana Edad , Estudios Prospectivos , Imagen por Resonancia Magnética/métodos , Abdomen , Protones , Neoplasias Hepáticas/diagnóstico por imagen
2.
J Surg Case Rep ; 2021(8): rjab305, 2021 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-34394911

RESUMEN

We report our experience with needlescopic splenectomy (NS) for the surgical treatment of idiopathic thrombocytopenic purpura using a 3-mm needlescope with three ports. One patient was male and two were females, and their mean age was 58 years. The patient was placed in the right lateral decubitus position. The first 12-mm port was introduced through the lateral margin of the left rectus abdominis muscle, and the other two 3-mm ports were inserted in the left upper quadrant. NS was performed by a standard technique under the observation of 3.3-mm needlescope. The surgical procedure was successfully completed in all the patients. The mean duration of surgery, intra-operative bleeding volume and post-operative hospital stay were 176 min, 70 ml and 4.7 days, respectively. There were no particular peri-operative complications in spite of dense adhesions or simultaneous laparoscopic procedures. Our method is safe and feasible with low morbidity and without impairing cosmetic benefits.

3.
Case Rep Oncol ; 14(1): 318-324, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-33776723

RESUMEN

Intimal sarcoma arising from the tunica intima of both systemic and pulmonary circulations is a rare disorder, whereas intimal sarcoma with chondroblastic osteosarcomatous differentiation (ISCOS) is even rarer. We present the case of a 25-year-old woman with ISCOS of the pulmonary artery (PA) where the patient went through surgical treatment after careful imaging assessment under a rather emergent situation. A 25-year-old Japanese female presented to our hospital with the chief complaints of dyspnea and palpitations on exertion. Upon arrival, she had systolic murmur, moderate tricuspid regurgitation, and possible pulmonary hypertension. A contrast-enhanced chest computed tomography (CT) showed dilatation of the main PA, filled with a hypodense area with calcification adjacent to the right and left PA. The calcified lesions within the tumor were the key findings suggesting osteoid-forming sarcoma, differentiating it from pulmonary embolism. Due to presence of critical symptomatic obliteration of the pulmonary circulation, an emergency surgery was performed. A whitish shiny mass filled the lumens from the main PA to the bilateral main PAs. The tumor was not attached to the surrounding intima, except for a slight attachment to the left interlobar PA, and could be completely removed from the vessel lumen. Based on the pathological findings, it was diagnosed as a primary ISCOS of the PA, which correlated with the findings of the CT, namely intratumoral calcification. Although the diagnosis-making is quite challenging, multidisciplinary collaboration between clinicians, radiologists, and pathologists is crucial for reaching the correct diagnosis.

4.
No Shinkei Geka ; 48(8): 707-710, 2020 Aug.
Artículo en Japonés | MEDLINE | ID: mdl-32830135

RESUMEN

Retropharyngeal hematomas are uncommon, but they may rarely cause occlusion of the upper airway and threaten life. Retropharyngeal hematomas often occur due to head or neck injury;they rarely occur due to iatrogenic causes such as insertion of a gastric tube or anticoagulant therapy. It has been found that patients receiving anticoagulant therapy are more likely to experience potentially severe retropharyngeal hematomas. We report the case of a patient with retropharyngeal hematoma with cervical cord damage. A 75-year-old man was transferred to our hospital after he sustained a fall and damaged his face. CT showed a massive retropharyngeal hematoma, but he did not complain of any breathing issues. Therefore, we selected conservative therapy. However, after approximately 4 hours, he suddenly complained of breathing problems and suffered from loss of consciousness. We performed intubation and provided sedation. After one week, his condition clearly improved and he was extubated.


Asunto(s)
Médula Cervical , Traumatismos del Cuello , Enfermedades Faríngeas , Anciano , Anticoagulantes , Hematoma , Humanos , Masculino
5.
Prostate Int ; 7(2): 78-81, 2019 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-31384610

RESUMEN

BACKGROUND: Whether antithrombotic agents should be stopped before prostate biopsy is unsettled. We investigated the impact of antithrombotic agents on bleeding complications after prostate biopsy. MATERIALS AND METHODS: Among the patients who underwent transrectal ultrasound-guided prostate biopsy from June 2006 to December 2013 at Ebina General Hospital, Kanagawa, Japan, 1817 cases were retrospectively assessed. Patients were divided into two groups: those not taking antithrombotic agents (control group) and those taking them (experimental group). The frequency and severity of bleeding complications after the procedure were compared. The severity of bleeding events was graded using the Common Terminology Criteria for Advanced Events vol. 4.0. RESULTS: Hemorrhagic complications were classified into grades 1 to 3. Patients with complications of Grade 2 and above needed treatment. As for the Grade 1 event, there were no differences between two groups. The frequency of more than Grade 2 bleeding events was 1.7% and 3.5% in the control and experimental group, respectively; the odds ratio was 2.18 (P = 0.039). Grade 3 events occurred in seven patients of the control group (0.5%) and four patients of the experimental group (1.2%). CONCLUSIONS: The present study showed that continuation of antithrombotic agents increased the frequency of hemorrhagic complications requiring intervention. It suggests that attention should be paid to the patients taking antithrombotic agents before prostate biopsy.

6.
ACS Nano ; 13(1): 305-312, 2019 01 22.
Artículo en Inglés | MEDLINE | ID: mdl-30606006

RESUMEN

Nanomaterial morphology is important for the targeted delivery of drugs to tissues as well as subsequent cellular uptake. Hollow nanotubes composed of peptides, with a diameter of 80 nm and various lengths (100, 200, 300, 600 nm), were successfully capped and sealed with a peptide hemisphere to encapsulate the anticancer drug, cisplatin. The torpedo-shaped nanocapsules with an aspect ratio (length/diameter) of 2.4 showed more rapid cellular uptake and accumulation at the tumor site compared with spherical analogues. Successful delivery of cisplatin to tumors was achieved in a mouse model and tumor growth was efficiently suppressed.


Asunto(s)
Antineoplásicos/administración & dosificación , Cisplatino/administración & dosificación , Nanocápsulas/química , Nanotubos/química , Animales , Antineoplásicos/farmacocinética , Antineoplásicos/uso terapéutico , Cisplatino/farmacocinética , Cisplatino/uso terapéutico , Liberación de Fármacos , Femenino , Células HeLa , Humanos , Ratones , Ratones Endogámicos C57BL , Neoplasias Experimentales/tratamiento farmacológico , Péptidos/química , Tensoactivos/química
7.
World Neurosurg ; 120: 72-77, 2018 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-30098437

RESUMEN

BACKGROUND: Trigeminal neuralgia caused by vertebrobasilar dolichoectasia (VBD) is rare and challenging to treat. Some authors have reported techniques for treating trigeminal neuralgia caused by VBD using various kinds of objects including clips, Proline slings, and titanium plates. METHODS: Here, we report the effectiveness of cutting and splitting of the tentorium in 3 patients with trigeminal neuralgia. RESULTS: The clinical results were good, the pain disappeared in all patients without medication, and no complications occurred. CONCLUSIONS: In cases of trigeminal neuralgia caused by VBD, this technique may be as useful as traditional microvascular decompression around the trigeminal nerve root entry zone.


Asunto(s)
Neuralgia del Trigémino/etiología , Neuralgia del Trigémino/cirugía , Insuficiencia Vertebrobasilar/complicaciones , Insuficiencia Vertebrobasilar/cirugía , Adulto , Anciano , Humanos , Masculino , Cirugía para Descompresión Microvascular/métodos , Persona de Mediana Edad , Neuralgia del Trigémino/diagnóstico por imagen , Insuficiencia Vertebrobasilar/diagnóstico por imagen
10.
Dermatology ; 232(2): 185-8, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-26871422

RESUMEN

Intravascular large B-cell lymphoma (IVL) is a rare subtype of extranodal malignant lymphoma. The proliferation of neoplastic B cells within small blood vessels causes eruptions and other symptoms in a variety of organs. The random skin biopsy is useful for diagnosing this condition in its early stages. In order to assess the diagnostic utility of this method, we examined 3 cases with the aim of comparing the occurrence of tumor cells in lesional and healthy-looking skin by performing a random skin biopsy of 32 separate sites. Our findings from the total of 32 biopsy specimens collected from the 3 cases indicated that 16 of the 17 sites on the lesional skin and 1 of the 15 sites on the healthy-looking skin were positive for neoplastic cells. This finding suggested that IVL cells occurred more frequently in the lesional skin than in the healthy-looking skin.


Asunto(s)
Linfoma de Células B Grandes Difuso/patología , Enfermedades de la Piel/patología , Piel/patología , Neoplasias Vasculares/patología , Anciano , Anciano de 80 o más Años , Biopsia , Femenino , Humanos , Linfoma de Células B Grandes Difuso/complicaciones , Masculino , Enfermedades de la Piel/etiología , Neoplasias Vasculares/complicaciones
11.
J Obstet Gynaecol Res ; 42(2): 202-5, 2016 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-26631915

RESUMEN

Pituitary stalk transection syndrome (PSTS) is a rare complication that can accompany breech delivery. Early diagnosis of this syndrome is difficult, and it may cause a serious delay in the diagnosis. We present a case of PSTS ascertained after breech delivery. A 20-year-old woman presented with primary amenorrhea. The patient was born by breech delivery and had a history of treatment for pituitary dwarfism. Her laboratory findings showed pituitary hypothyroidism, and hormone replacement therapy was initiated. At 28 years old, she became pregnant and had a normal delivery at 38 weeks' gestation. One year after delivery, her thyroid hormone level changed. Laboratory test showed adrenocortical insufficiency, and magnetic resonance imaging of the pituitary gland showed transection of the pituitary stalk and development of an ectopic posterior lobe. These findings were compatible with PSTS. When a patient who has been born by breech delivery presents with symptoms of pituitary deficiency, PSTS should be considered in the differential diagnosis.


Asunto(s)
Presentación de Nalgas , Adenohipófisis/lesiones , Adenohipófisis/patología , Adulto , Enanismo Hipofisario/diagnóstico , Enanismo Hipofisario/tratamiento farmacológico , Femenino , Terapia de Reemplazo de Hormonas , Humanos , Imagen por Resonancia Magnética , Adenohipófisis/diagnóstico por imagen , Embarazo , Síndrome , Hormonas Tiroideas/metabolismo , Adulto Joven
12.
Kekkaku ; 91(10): 631-640, 2016 Oct.
Artículo en Japonés | MEDLINE | ID: mdl-30646448

RESUMEN

A symposium entitled "Legacies of surgery for tuberculosis and succession to the next generation" was held at the 89th annual meeting of The Japanese Society for Tuberculosis in Gifu. The purpose of the symposium was to look back at the history of surgery for tuberculosis and development of surgical techniques. The contribution of those techniques to the next generation was also discussed. Many unique and universal techniques such as segmentectomy, thoracoplasty, muscle flap plombage, greater omental plom- bage, open window thoracotomy, cavernostomy, and decortication have matured during a long history. Based on the development of antituberculous drugs, surgery seems to have a less important role. However, surgical techniques are still required for multi-drug resistant tuberculosis and non- tuberculous mycobacteriosis. Core techniques are apjlied in the surgery for many thoracic diseases, such as lung cancer, mycosis, pyothorax, and mesothelioma. This manuscript summarizes the presentations.


Asunto(s)
Procedimientos Quirúrgicos Pulmonares/métodos , Tuberculosis/cirugía , Humanos , Sociedades Médicas
13.
J Nat Prod ; 78(7): 1656-62, 2015 Jul 24.
Artículo en Inglés | MEDLINE | ID: mdl-26176165

RESUMEN

We have previously reported that bisleuconothine A (Bis-A), a novel bisindole alkaloid isolated from Leuconotis griffithii, showed cytostatic activity in several cell lines. In this report, the mechanism of Bis-A-induced cytostatic activity was investigated in detail using A549 cells. Bis-A did not cause apoptosis, as indicated by analysis of annexin V and propidium iodide staining. Expression of all tested apoptosis-related proteins was also unaffected by Bis-A treatment. Bis-A was found to increase LC3 lipidation in MCF7 cells as well as A549 cells, suggesting that Bis-A cytostatic activity may be due to induction of autophagy. Subsequent investigation via Western blotting and immunofluorescence staining indicated that Bis-A induced formation but prevented degradation of autophagosomes. Mechanistic studies showed that Bis-A down-regulated phosphorylation of protein kinase B (AKT) and its downstream kinase, PRAS40, which is an mTOR repressor. Moreover, phosphorylation of p70S6K, an mTOR-dependent kinase, was also down-regulated. Down-regulation of these kinases suggests that the increase in LC3 lipidation may be due to mTOR deactivation. Thus, the cytostatic activity shown by Bis-A may be attributed to its induction of autophagosome formation. The Bis-A-induced autophagosome formation was suggested to be caused by its interference with the AKT-mTOR signaling pathway.


Asunto(s)
Alcaloides Indólicos/farmacología , Anexina A5/metabolismo , Apoptosis/efectos de los fármacos , Proteínas Reguladoras de la Apoptosis/metabolismo , Autofagia , Línea Celular Tumoral , Citostáticos/química , Citostáticos/farmacología , Regulación hacia Abajo , Femenino , Humanos , Alcaloides Indólicos/química , Alcaloides Indólicos/aislamiento & purificación , Malasia , Estructura Molecular , Fosforilación , Proteínas Proto-Oncogénicas c-akt/metabolismo , Serina-Treonina Quinasas TOR/efectos de los fármacos , Vinblastina/farmacología
14.
Clin Exp Nephrol ; 19(3): 427-35, 2015 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-25056826

RESUMEN

BACKGROUND: The glomerulus contains well-developed capillaries, which are at risk of injury due to high hydrostatic pressure, hyperfiltration, hypertension and inflammation. However, the pathological alterations of the injured glomerular basement membrane (GBM), the main component of the glomerular filtration barrier, are still uncertain in cases of glomerulonephritis. METHODS: We examined the alterations of the GBM in 50 renal biopsy cases with IgA nephropathy (31.8 ± 17.6 years old) using double immunostaining for the α2(IV) and α5(IV) chains of type IV collagen, and examining the ultrastructural alterations by transmission electron microscopy (TEM) and low-vacuum scanning electron microscopy (LV-SEM). RESULTS: The GBM of IgA nephropathy cases showed various morphological and qualitative alterations. In the TEM findings, thinning, gaps, rupture, thickening with a lamellar and reticular structure and double contours were detected in the GBM. Double immunostaining for α5(IV) and α2(IV) showed thickening of the GBM with reduced α5(IV) and increased α2(IV), or mosaic images of α5(IV) and α2(IV), and holes, fractures, spiny projections and rupture of α5(IV) in the GBM. In addition, LV-SEM showed an etched image and multiple holes in a widening and wavy GBM. These findings might be associated with the development of a brittle GBM in IgA nephropathy. CONCLUSION: Glomerular basement membrane alterations were frequently noted in IgA nephropathy, and were easily evaluated by double immunostaining for α2(IV) and α5(IV) of type IV collagen and LV-SEM. The application of these analyses to human renal biopsy specimens may enhance our understanding of the alterations of the GBM that occur in human glomerular diseases.


Asunto(s)
Colágeno Tipo IV/análisis , Membrana Basal Glomerular/química , Membrana Basal Glomerular/ultraestructura , Glomerulonefritis por IGA/patología , Adolescente , Adulto , Capilares/química , Capilares/lesiones , Capilares/ultraestructura , Femenino , Membrana Basal Glomerular/lesiones , Membrana Basal Glomerular/patología , Glomerulonefritis por IGA/metabolismo , Humanos , Glomérulos Renales/irrigación sanguínea , Glomérulos Renales/química , Glomérulos Renales/diagnóstico por imagen , Masculino , Microscopía Electrónica de Rastreo/métodos , Microscopía Electrónica de Transmisión , Persona de Mediana Edad , Ultrasonografía , Adulto Joven
15.
Development ; 141(23): 4618-27, 2014 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-25359727

RESUMEN

Neat1 is a non-protein-coding RNA that serves as an architectural component of the nuclear bodies known as paraspeckles. Although cell-based studies indicate that Neat1 is a crucial regulator of gene expression, its physiological relevance remains unclear. Here, we find that Neat1 knockout (KO) mice stochastically fail to become pregnant despite normal ovulation. Unilateral transplantation of wild-type ovaries or the administration of progesterone partially rescued the phenotype, suggesting that corpus luteum dysfunction and concomitant low progesterone were the primary causes of the decreased fertility. In contrast to the faint expression observed in most of the adult tissues, Neat1 was highly expressed in the corpus luteum, and the formation of luteal tissue was severely impaired in nearly half of the Neat1 KO mice. These observations suggest that Neat1 is essential for the formation of the corpus luteum and for the subsequent establishment of pregnancy under a suboptimal condition that has not yet been identified.


Asunto(s)
Cuerpo Lúteo/crecimiento & desarrollo , Embarazo/fisiología , ARN Largo no Codificante/metabolismo , Transducción de Señal/fisiología , Animales , Cuerpo Lúteo/metabolismo , Cartilla de ADN/genética , Femenino , Fertilidad/genética , Fertilidad/fisiología , Hibridación in Situ , Etiquetado Corte-Fin in Situ , Ratones , Ratones Noqueados , Proteínas Nucleares/genética , Progesterona/sangre , ARN Largo no Codificante/genética , Proteínas de Unión al ARN/genética , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa , Transducción de Señal/genética
16.
Anticancer Res ; 34(7): 3583-8, 2014 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-24982373

RESUMEN

AIM: We undertook a prospective phase II study to evaluate the efficacy of S-1 plus trastuzumab combination regimen for human epidermal-growth factor receptor-2 (HER2)-positive metastatic breast cancer (MBC). PATIENTS AND METHODS: HER2-positive MBC patients received oral administration of S-1 (80 mg/m2/day, days 1 to 28, every 6 weeks) and intravenous weekly trastuzumab (2 mg/kg), according to the results of a prior Phase I trial of our group. RESULTS: A total of 28 patients were enrolled and received a median of 3.5 (range 1-10) cycles of treatment. Overall response rate and clinical benefit rate were 53.6% and 75.0%, respectively. Progression-free survival was 30 weeks. With regard to grade 3 and 4 adverse effects, leucopenia, neutropenia, increase in serum alanine aminotransferase, and diarrhea were observed. CONCLUSION: Combination of S-1 and trastuzumab was tolerable and had excellent efficacy with good response and disease control in this trial.


Asunto(s)
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Neoplasias de la Mama/tratamiento farmacológico , Receptor ErbB-2/metabolismo , Administración Oral , Anciano , Anticuerpos Monoclonales Humanizados/administración & dosificación , Anticuerpos Monoclonales Humanizados/efectos adversos , Protocolos de Quimioterapia Combinada Antineoplásica/efectos adversos , Neoplasias de la Mama/enzimología , Neoplasias de la Mama/patología , Supervivencia sin Enfermedad , Esquema de Medicación , Combinación de Medicamentos , Femenino , Humanos , Persona de Mediana Edad , Metástasis de la Neoplasia , Recurrencia Local de Neoplasia/tratamiento farmacológico , Recurrencia Local de Neoplasia/enzimología , Recurrencia Local de Neoplasia/patología , Ácido Oxónico/administración & dosificación , Ácido Oxónico/efectos adversos , Estudios Prospectivos , Tegafur/administración & dosificación , Tegafur/efectos adversos , Trastuzumab
17.
Kyobu Geka ; 67(2): 169-71, 2014 Feb.
Artículo en Japonés | MEDLINE | ID: mdl-24743492

RESUMEN

We report a rare surgical case of a bronchial hamartoma in subsegmental bronchus. A 70-year-old man was incidentally pointed out an abnormal chest shadow without any complaints. Chest computed tomography revealed a round nodule with diameter of 15 mm in the right upper lobe. The bronchoscopic examination revealed complete obstruction of right B2a by the tumor. Right S2 segmentectomy was done to make a definite diagnosis and to prevent possible obstructive pneumonia. Histopathological examination revealed that the tumor was a benign cartilage bronchial hamartoma.


Asunto(s)
Neoplasias de los Bronquios/diagnóstico , Hamartoma/diagnóstico , Anciano , Neoplasias de los Bronquios/patología , Hamartoma/patología , Humanos , Masculino
18.
Nat Prod Commun ; 9(1): 101-6, 2014 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-24660475

RESUMEN

Increases in the number of patients with dementia involving Alzheimer's disease (AD) are seen as a grave public health problem. In neurodegenerative disorders involving AD, biological stresses, such as oxidative and inflammatory stress, induce neural cell damage. Asparagus (Asparagus officinalis) is a popular vegetable, and an extract prepared from this reportedly possesses various beneficial biological activities. In the present study, we investigated the effects of enzyme-treated asparagus extract (ETAS) on neuronal cells and early cognitive impairment of senescence-accelerated mouse prone 8 (SAMP8) mice. The expression of mRNAs for factors that exert cytoprotective and anti-apoptotic functions, such as heat-shock protein 70 and heme oxygenase-1, was upregulated in NG108-15 neuronal cells by treatment with ETAS. Moreover, when release of lactate dehydrogenase from damaged NG108-15 cells was increased for cells cultured in medium containing either the nitric oxide donor sodium nitroprusside or the hypoxia mimic reagent cobalt chloride, ETAS significantly attenuated this cell damage. Also, when contextual fear memory, which is considered to be a hippocampus-dependent memory, was significantly impaired in SAMP8 mice, ETAS attenuated the cognitive impairment. These results suggest that ETAS produces cytoprotective effects in neuronal cells and attenuates the effects on the cognitive impairment of SAMP8 mice.


Asunto(s)
Asparagus , Disfunción Cognitiva/tratamiento farmacológico , Fármacos Neuroprotectores/uso terapéutico , Fitoterapia , Extractos Vegetales/uso terapéutico , Animales , Línea Celular Tumoral , Proteínas HSP70 de Choque Térmico/metabolismo , Hemo-Oxigenasa 1/metabolismo , Masculino , Ratones , Ratas
19.
Case Rep Obstet Gynecol ; 2014: 602139, 2014.
Artículo en Inglés | MEDLINE | ID: mdl-24551466

RESUMEN

Several etiologies have been proposed for erythrocytosis associated with uterine leiomyoma. We report a case of erythrocytosis associated with a large uterine leiomyoma, in which specific immunostaining for erythropoietin was positive. A 55-year-old woman, gravida 0, para 0, was referred to our hospital for treatment for a large uterine myoma and erythrocytosis. She had no vaginal bleeding after she reached menopause at 50 years old. She had severe polycythemia: hemoglobin (Hb), 19.9 g/dL; red blood cell count (RBC), 6.65 × 10(6)/mm(3); hematocrit, (Hct) 59.1%. An abdominal simple hysterectomy was performed, and a pathological examination confirmed the diagnosis of leiomyoma of the uterus. In addition, immunostaining demonstrated that the cytoplasm of the leiomyoma cells was strongly positive for erythropoietin. After the operation, the patient's hemoglobin and hematocrit levels normalized, and we diagnosed her condition as myomatous erythrocytosis syndrome.

20.
Am J Med Genet A ; 164A(3): 597-609, 2014 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-24357569

RESUMEN

Wolf-Hirschhorn syndrome (WHS) is a contiguous gene deletion syndrome of the distal 4p chromosome, characterized by craniofacial features, growth impairment, intellectual disability, and seizures. Although genotype-phenotype correlation studies have previously been published, several important issues remain to be elucidated including seizure severity. We present detailed clinical and molecular-cytogenetic findings from a microarray and fluorescence in situ hybridization (FISH)-based genotype-phenotype analysis of 22 Japanese WHS patients, the first large non-Western series. 4p deletions were terminal in 20 patients and interstitial in two, with deletion sizes ranging from 2.06 to 29.42 Mb. The new Wolf-Hirschhorn syndrome critical region (WHSCR2) was deleted in all cases, and duplication of other chromosomal regions occurred in four. Complex mosaicism was identified in two cases: two different 4p terminal deletions; a simple 4p terminal deletion and an unbalanced translocation with the same 4p breakpoint. Seizures began in infancy in 33% (2/6) of cases with small (<6 Mb) deletions and in 86% (12/14) of cases with larger deletions (>6 Mb). Status epilepticus occurred in 17% (1/6) with small deletions and in 87% (13/15) with larger deletions. Renal hypoplasia or dysplasia and structural ocular anomalies were more prevalent in those with larger deletions. A new susceptible region for seizure occurrence is suggested between 0.76 and 1.3 Mb from 4 pter, encompassing CTBP1 and CPLX1, and distal to the previously-supposed candidate gene LETM1. The usefulness of bromide therapy for seizures and additional clinical features including hypercholesterolemia are also described.


Asunto(s)
Estudios de Asociación Genética , Hibridación Fluorescente in Situ , Análisis de Secuencia por Matrices de Oligonucleótidos , Síndrome de Wolf-Hirschhorn/diagnóstico , Síndrome de Wolf-Hirschhorn/genética , Adolescente , Pueblo Asiatico/genética , Niño , Preescolar , Aberraciones Cromosómicas , Bandeo Cromosómico , Facies , Femenino , Humanos , Hibridación Fluorescente in Situ/métodos , Lactante , Japón , Masculino , Análisis de Secuencia por Matrices de Oligonucleótidos/métodos , Fenotipo
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