Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 21
Filtrar
Más filtros

Banco de datos
País/Región como asunto
Tipo del documento
País de afiliación
Intervalo de año de publicación
1.
Gan To Kagaku Ryoho ; 50(13): 1854-1856, 2023 Dec.
Artículo en Japonés | MEDLINE | ID: mdl-38303230

RESUMEN

In recent years, bridge to surgery(BTS), in which surgery is performed after colorectal stenting for obstructive colorectal cancer, has gradually become popular, and laparoscopic surgery is also a treatment option. From January 2020 to December 2022, we retrospectively evaluated clinicopathological factors in 18 colorectal cancer cases who underwent radical resection after colorectal stenting. We found no difference in patient background, histopathological factors, primary anastomosis rate, stoma creation rate, operative time, postoperative complication rate and length of hospital stay between the laparoscopic surgery(L)and open surgery(O)groups. Blood loss was significantly lower in group L. In T4 patients, laparoscopic surgery after colorectal stenting can be safely performed, but conversion to open surgery may be necessary. Surgery after colorectal stenting should be performed based on preoperative accurate imaging and sufficient experience.


Asunto(s)
Neoplasias Colorrectales , Obstrucción Intestinal , Laparoscopía , Humanos , Neoplasias Colorrectales/cirugía , Neoplasias Colorrectales/complicaciones , Estudios Retrospectivos , Obstrucción Intestinal/etiología , Obstrucción Intestinal/cirugía , Resultado del Tratamiento , Stents/efectos adversos , Laparoscopía/efectos adversos
2.
Pediatr Int ; 64(1): e15040, 2022 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-34704648

RESUMEN

BACKGROUND: Infants ≤90 days old can exhibit non-specific signs of infection, even in cases of serious bacterial infection (SBI). METHODS: This prospective study included infants aged ≤90 days hospitalized for fever from June 2017 to August 2019. Nasopharyngeal swabs were tested using multiplex real-time polymerase chain reaction (PCR) tests and 16S ribosomal RNA analysis of whole blood to determine causative microorganisms. Data pertaining to inflammatory markers, maximum body temperature (BT), and respiratory symptoms of infants and their cohabiting families were collected at admission. RESULTS: A total of 110 infants were enrolled (age range, 9-90 days), 17 (15.5%) of whom presented with SBIs. White blood cell (WBC) count and absolute neutrophil count (ANC) were significantly higher in patients with SBIs than in those without, although maximum BT did not significantly differ between the SBI and non-SBI groups (n = 93). One or more viruses were detected in 82 infants (74.5%). Viruses were detected more frequently in infants with respiratory symptoms than in those without respiratory symptoms (P = 0.038), and patients with SBIs experienced significantly less respiratory symptoms than those without SBIs (P = 0.049). Moreover, viruses were more often detected in infants from cohabiting families with respiratory symptoms than in those whose family members did not exhibit respiratory symptoms (P = 0.0018). CONCLUSION: White blood cell count, and ANC were significantly higher, and respiratory symptoms were less in infants ≤90 days old with SBIs than in those without SBIs. Microorganisms from nasopharyngeal by multiplex real-time PCR swabs could not be judged as SBI or non-SBI.


Asunto(s)
Infecciones Bacterianas , Lactante , Humanos , Recién Nacido , Estudios Prospectivos , Infecciones Bacterianas/diagnóstico , Infecciones Bacterianas/epidemiología , Recuento de Leucocitos , Neutrófilos , Fiebre/epidemiología , Fiebre/etiología
3.
Gan To Kagaku Ryoho ; 49(13): 1736-1738, 2022 Dec.
Artículo en Japonés | MEDLINE | ID: mdl-36732983

RESUMEN

A 72-year-old man was presented with anemia and diagnosed with sigmoid colon cancer by colonoscopy. CT showed a soft tissue density around the retroperitoneum, leading to the diagnosis of retroperitoneal fibrosis. Stenosis of left ureter, inferior mesenteric artery, and left colic artery due to the soft tissues were detected. Sigmoidectomy and retroperitoneal biopsy were performed, and colorectal anastomosis was completed after confirming the intestinal blood flow by ICG fluorescence angiography. In retroperitoneal fibrosis, identifying blood vessels intraoperatively can be difficult. ICG fluorescence angiography is useful for reliable anastomosis in colorectal cancer surgery with retroperitoneal fibrosis.


Asunto(s)
Laparoscopía , Fibrosis Retroperitoneal , Neoplasias del Colon Sigmoide , Masculino , Humanos , Anciano , Verde de Indocianina , Angiografía con Fluoresceína , Neoplasias del Colon Sigmoide/cirugía , Fuga Anastomótica , Anastomosis Quirúrgica
4.
Int J Colorectal Dis ; 36(8): 1739-1749, 2021 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-33715077

RESUMEN

PURPOSE: This randomized phase II trial compared tegafur-uracil/leucovorin (UFT/LV) plus oxaliplatin (TEGAFOX) to UFT/LV as adjuvant chemotherapy for patients with high-risk stage II/III colorectal cancer. METHODS: From 2010 to April 2015, 159 patients who underwent curative resection were randomly assigned to receive TEGAFOX (85 mg/m2 oxaliplatin on days 1 and 15, 300 mg/m2/day UFT and 75 mg/day LV on days 1-28, every 35 days for five cycles) or UFT/LV. The primary study endpoint was disease-free survival. RESULTS: The 3-year disease-free survival rate was 84.2% in the TEGAFOX arm, versus 62.1% for UFT/LV. The stratified hazard ratio for disease-free survival for TEGAFOX compared to UFT/LV was 0.338 (P < 0.01). The incidence of any-grade adverse events was significantly higher in the TEGAFOX arm (96.1%) than in the UFT/LV arm (76.6%; P < 0.01). The rates of any-grade neutropenia, thrombocytopenia, aspartate aminotransferase/alanine aminotransferase elevation, and peripheral sensory neuropathy were higher in the TEGAFOX group, whereas the incidence of grade ≥ 3 adverse events did not differ between the groups. CONCLUSIONS: TEGAFOX is an additional adjuvant chemotherapy option for high-risk stage II/III colorectal cancer. TRIAL REGISTRATION: UMIN ID: 000007696, date of registration: April 10, 2012.


Asunto(s)
Neoplasias Colorrectales , Tegafur , Protocolos de Quimioterapia Combinada Antineoplásica/efectos adversos , Neoplasias Colorrectales/tratamiento farmacológico , Neoplasias Colorrectales/cirugía , Humanos , Leucovorina/efectos adversos , Oxaliplatino/efectos adversos , Tegafur/efectos adversos , Uracilo/efectos adversos
5.
J Infect Chemother ; 27(2): 342-347, 2021 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-33402306

RESUMEN

INTRODUCTION: The features of pneumonia in children with neurologic impairment (NI) resemble those of healthcare-associated pneumonia is defined as pneumonia occurring in the community associated with healthcare risk factors. There are currently no guidelines for the treatment of pneumonia in children with NI. Here, we assessed whether the guidelines applicable for treating pneumonia in adults could be applied to children with NI. METHODS: Between 2008 and 2019, we enrolled children with NI who developed pneumonia and were treated in the pediatric ward of Kawasaki Medical School Hospital. We evaluated patient characteristics, the frequency of isolation of multidrug-resistant (MDR) pathogens, and clinical outcomes. RESULTS: MDR pathogens were more frequently isolated from patients receiving tube feeding (TF) and/or with tracheostomy than from patients without these risk factors. Other risk factors, including a history of antibiotic therapy and methicillin-resistant Staphylococcus aureus isolation, recent hospitalization, residence in a nursing home or extended care facility, and low-dose, long-term macrolide therapy, did not significantly affect the frequency of MDR pathogen isolation. In patients receiving TF and/or with tracheostomy, treatment success was achieved in all cases treated with broad-spectrum antibiotics and 72.2% of cases treated with non-broad-spectrum antibiotics (P = 0.007). Conversely, among patients without these risk factors, no such difference was observed. CONCLUSIONS: Our findings indicate that the guideline to select antibiotics for treating pneumonia in children with NI should be simpler and more useful than the current guidelines for adult pneumonia, based on risk factor assessment for MDR pathogens.


Asunto(s)
Infección Hospitalaria , Staphylococcus aureus Resistente a Meticilina , Neumonía , Adulto , Antibacterianos/uso terapéutico , Niño , Infección Hospitalaria/tratamiento farmacológico , Farmacorresistencia Bacteriana Múltiple , Humanos , Neumonía/complicaciones , Neumonía/tratamiento farmacológico , Neumonía/epidemiología , Factores de Riesgo
6.
J Infect Chemother ; 27(2): 271-276, 2021 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-33500118

RESUMEN

INTRODUCTION: Mycoplasma pneumoniae contributes to numerous pneumonia cases among children and young adults. Therefore, this study aimed to investigate the prevalence of M. pneumoniae infections among Japanese children, occurring since 2008. METHODS: Nasopharyngeal swab specimens were obtained from all cases, following which real-time PCR was performed to identify M. pneumoniae. Further, the p1 genotypes of isolates were determined using the PCR restriction fragment length polymorphism typing method. RESULTS: The annual rate of macrolide-resistant M. pneumoniae (MRMP) infections peaked at 81.8% in 2012 and decreased annually until 2015. Although the infection rate increased to 65.3% in 2016, it decreased again to 14.3% in 2018. Although >90% of isolates harbored the type 1 genotype until 2012, this rate decreased, and approximately 80% harbored p1 genotypes other than type 1 in 2018. Furthermore, the occurrence rate of MRMP among the type 1 isolates was very high (82.4%), whereas that among p1 genotypes other than type 1 was very low (6.5%). CONCLUSIONS: MRMP occurrence potentially decreased owing to changes in not only antibiotic usage but also in the distribution of p1 genotype among isolates.


Asunto(s)
Neumonía por Mycoplasma , Antibacterianos/farmacología , Antibacterianos/uso terapéutico , Niño , Farmacorresistencia Bacteriana/genética , Genotipo , Humanos , Japón/epidemiología , Macrólidos/farmacología , Macrólidos/uso terapéutico , Pruebas de Sensibilidad Microbiana , Mycoplasma pneumoniae/genética , Neumonía por Mycoplasma/tratamiento farmacológico , Neumonía por Mycoplasma/epidemiología , ARN Ribosómico 23S , Adulto Joven
7.
J Infect Chemother ; 26(11): 1116-1121, 2020 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-32800484

RESUMEN

OBJECTIVE: Chlamydia pneumoniae and Mycoplasma pneumoniae are both common causes of atypical pneumonia. We conducted an annual national survey of Japanese children to screen them for C. pneumoniae infections during the M. pneumoniae epidemic season. METHODS: Nasopharyngeal swab specimens were collected from children aged 0-15 years with suspected acute lower respiratory tract infection due to atypical pathogens, at 85 medical facilities in Japan from June 2008 to March 2018. Specimens were tested for infection using real-time polymerase chain reaction assays. RESULTS: Of 5002 specimens tested, 1822 (36.5%) were positive for M. pneumoniae alone, 42 (0.8%) were positive for C. pneumoniae alone, and 20 (0.4%) were positive for both organisms. In children with C. pneumoniae infection, the median C. pneumoniae DNA copy number was higher in those with single infections than in those with M. pneumoniae coinfection (p = 0.08); however it did not differ significantly according to whether the children had received antibiotics prior to sample collection (p = 0.34). CONCLUSIONS: The prevalence of C. pneumoniae infection was substantially lower than that of M. pneumoniae infection during the study period. The change in prevalence of C. pneumoniae was not influenced by that of M. pneumoniae. Children with single C. pneumoniae infection are likely to have had C. pneumoniae infection, while those with coinfection are likely to have been C. pneumoniae carriers.


Asunto(s)
Infecciones por Chlamydia , Infecciones por Chlamydophila , Chlamydophila pneumoniae , Infecciones Comunitarias Adquiridas , Epidemias , Neumonía por Mycoplasma , Niño , Infecciones por Chlamydia/epidemiología , Infecciones por Chlamydophila/epidemiología , Chlamydophila pneumoniae/genética , Humanos , Japón/epidemiología , Mycoplasma pneumoniae/genética , Neumonía por Mycoplasma/epidemiología , Prevalencia , Estaciones del Año
9.
J Pediatr Hematol Oncol ; 40(8): 605-608, 2018 11.
Artículo en Inglés | MEDLINE | ID: mdl-30188350

RESUMEN

BACKGROUND: Although febrile neutropenia (FN) is one of the most common adverse events produced by chemotherapy, its microbiological etiology is determined for only 15% to 30% of cases. OBJECTIVES: We investigated the rate of viremia with common DNA viruses in patients with FN. STUDY DESIGN: From June 2012 to April 2014, 72 blood samples from 24 patients receiving chemotherapy, who experienced FN episodes, were examined for the presence of herpes viruses and other DNA viruses. We used real-time polymerase chain reaction assays to detect herpes simplex virus type 1 and 2, varicella zoster virus, Epstein-Barr virus, cytomegalovirus, human herpes virus types 6 and 7, BK virus and human parvovirus B19 (B19). RESULTS: Viruses were identified in 14 of 72 samples (19.4%). The detected etiological agents were BK virus (5 episodes), human herpes virus type 6 (4 episodes), B19 (4 episodes), Epstein-Barr virus (2 episodes), and cytomegalovirus (1 episode). CONCLUSIONS: Our results indicate that viral infections are common causes in patients with FN. Therefore, viruses may be responsible for FN in a large proportion of patients in whom a causative microorganism could not be identified, and this viral etiology may explain their poor response to antibiotic therapy.


Asunto(s)
Protocolos de Quimioterapia Combinada Antineoplásica/efectos adversos , Infecciones por Virus ADN , Virus ADN , Neutropenia Febril , Neoplasias , Protocolos de Quimioterapia Combinada Antineoplásica/administración & dosificación , Niño , Preescolar , Infecciones por Virus ADN/inducido químicamente , Infecciones por Virus ADN/epidemiología , Infecciones por Virus ADN/virología , Neutropenia Febril/inducido químicamente , Neutropenia Febril/epidemiología , Neutropenia Febril/virología , Femenino , Humanos , Incidencia , Lactante , Recién Nacido , Masculino , Neoplasias/tratamiento farmacológico , Neoplasias/epidemiología , Neoplasias/virología
11.
No To Hattatsu ; 48(1): 10-3, 2016 Jan.
Artículo en Japonés | MEDLINE | ID: mdl-27012103

RESUMEN

OBJECTIVE: The efficacy of ramelteon, a sleep agent thought to induce natural sleep through its actions on the melatonin receptors 1 and 2, was evaluated during electroencephalography (EEG). METHODS: We retrospectively analyzed the data from 862 EEG sessions in the electronic medical records of 523 patients (mean age, 8.9 ± 6.4 years; range, 0-38 years) who underwent EEGs in the Department of Pediatrics of Kawasaki Medical School Hospital. We compared the sleep induction statuses of patients not treated with hypnotics and those treated with the following hypnotics: ramelteon, triclofos sodium, and/or chloral hydrate. RESULTS: The success rates of sleep induction in the different groups were as follows: 440/513 (85.7%) in the hypnotic-free, 60/63 (95.2%) in the ramelteon, 209/217 (96.3%) in the triclofos sodium, 36/37 (97.3%) in the chloral hydrate, and 29/32 (90.6%) in the triclofos sodium plus chloral hydrate group. The incidence of adverse reactions was 0/63 (0%) in the ramelteon, 104/199 (52.2%) in the triclofos sodium, 12/31 (38.7%) in the chloral hydrate, and 20/30 (66.7%) in the triclofos sodium plus chloral hydrate group. The mean sleep latency in the ramelteon group was 22.3 ± 12.8 min (range, 5-60 min). CONCLUSIONS: Ramelteon induced sleep significantly more compared to the control group. The incidence of adverse reactions after treatment with ramelteon was significantly lower than after treatment with any of the other hypnotics. These results suggest that ramelteon is useful as a hypnotic during EEG.


Asunto(s)
Hipnóticos y Sedantes/farmacología , Indenos/farmacología , Niño , Preescolar , Electroencefalografía/efectos de los fármacos , Humanos , Hipnóticos y Sedantes/efectos adversos , Indenos/efectos adversos , Lactante , Recién Nacido , Sueño/efectos de los fármacos
12.
J Environ Manage ; 151: 303-9, 2015 Mar 15.
Artículo en Inglés | MEDLINE | ID: mdl-25585143

RESUMEN

Mg-Al layered double hydroxides (Mg-Al LDHs) doped with Fe(2+) adsorbed As(V) [Formula: see text] and Sb(V) [Formula: see text] from an aqueous solution through anion exchange with Cl(-) intercalated in the LDH interlayer. Fe(2+)-doped Mg-Al LDH exhibited superior As(V) removal compared with Mg-Al LDH. The oxidation of Fe(2+) doped in the Mg-Al LDH host layer to Fe(3+) increased the positive layer charge of the LDH, thus increasing the anion-uptake capacity owing to stronger electrostatic attractive force between the positively charged layer and the anion. However, Fe(2+)-doped Mg-Al LDH was not superior to Mg-Al LDH in terms of Sb(V) removal. This was attributed to the preferential intercalation of OH(-) over [Formula: see text] . The As(V) and Sb(V) removal by LDH followed Langmuir-type adsorption, which proceeded via a pseudo-first-order reaction. The equilibrium and kinetics studies confirm that the adsorption of As(V) and Sb(V) by Fe(2+)-doped Mg-Al LDH was the result of chemical adsorption, involving the anion exchange of [Formula: see text] and [Formula: see text] with the intercalated Cl(-).


Asunto(s)
Compuestos de Aluminio/química , Antimonio/química , Arsénico/química , Hierro/química , Compuestos de Magnesio/química , Adsorción , Concentración de Iones de Hidrógeno , Hidróxidos , Cinética , Agua/química , Contaminantes Químicos del Agua/química
13.
J Infect Chemother ; 20(4): 270-3, 2014 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-24486173

RESUMEN

It has been suggested that cytokines are associated with refractory Mycoplasma pneumoniae pneumonia, and steroid administration is reported to be effective in this situation. In order to elucidate the characteristics of refractory M. pneumoniae pneumonia, we analyzed five pediatric patients with refractory M. pneumoniae pneumonia, which was defined as showing prolonged fever and deterioration of clinical and radiological findings despite administration of appropriate antibiotics, compared with 15 pediatric patients with M. pneumoniae pneumonia who responded to treatment promptly (control group). Serum lactate dehydrogenase (LDH), alanine aminotransferase (ALT), aspartate aminotransferase (AST), and interleukin (IL)-18 levels were significantly higher in the refractory group than in the control group at the initiation of corticosteroid use (LDH: 571 vs 292 IU/L, p = 0.0129; ALT: 25 vs 11 IU/L, p = 0.0143; AST: 41 vs 26 IU/L, p = 0.0404; IL-18: 579 vs 365 pg/mL, p = 0.0402). Significant correlation was found between serum values of IL-18 and LDH (r(2) = 0.504, p = 0.0433). The administration of corticosteroids to patients in the refractory group resulted in the rapid improvement of symptoms and decrease in serum LDH levels in all patients. A serum LDH level of ≥410 IU/L, which was calculated from receiver operating characteristic curve analysis, seemed to be an appropriate criterion for the initiation of steroid therapy. In conclusion, serum IL-18 and LDH levels can be used as parameters to determine which patients are candidates for corticosteroid therapy. In addition, serum LDH levels seem to be a useful marker for the evaluation of therapeutic efficacy in refractory M. pneumoniae pneumonia.


Asunto(s)
L-Lactato Deshidrogenasa/sangre , Neumonía por Mycoplasma/sangre , Neumonía por Mycoplasma/tratamiento farmacológico , Adolescente , Antibacterianos/uso terapéutico , Antiinflamatorios/uso terapéutico , Niño , Preescolar , Estudios de Cohortes , Farmacorresistencia Bacteriana , Femenino , Humanos , Lactante , Interleucina-18/sangre , Japón , Masculino , Metilprednisolona/uso terapéutico , Mycoplasma pneumoniae/efectos de los fármacos , Mycoplasma pneumoniae/genética , Neumonía por Mycoplasma/microbiología , Resultado del Tratamiento
14.
Antimicrob Agents Chemother ; 57(5): 2252-8, 2013 May.
Artículo en Inglés | MEDLINE | ID: mdl-23459497

RESUMEN

The importance of macrolide-resistant (MR) Mycoplasma pneumoniae has become much more apparent in the past decade. We investigated differences in the therapeutic efficacies of macrolides, minocycline, and tosufloxacin against MR M. pneumoniae. A total of 188 children with M. pneumoniae pneumonia confirmed by culture and PCR were analyzed. Of these, 150 patients had a strain with an MR gene and 134 had one with an A-to-G mutation at position 2063 of M. pneumoniae 23S rRNA domain V. Azithromycin (n = 27), clarithromycin (n = 23), tosufloxacin (n = 62), or minocycline (n = 38) was used for definitive treatment of patients with MR M. pneumoniae. Defervescence within 48 h after the initiation of antibiotic therapy was observed in 41% of the patients in the azithromycin group, 48% of those in the clarithromycin group, 69% of those in the tosufloxacin group, and 87% of those in the minocycline group. The average number of days of fever after the administration of antibiotic treatment was lower in the minocycline and tosufloxacin groups than in the macrolide groups. The decrease in the M. pneumoniae burden, as estimated by the number of DNA copies, after 48 to 96 h of treatment was more rapid in patients receiving minocycline (P = 0.016) than in those receiving tosufloxacin (P = 0.049), azithromycin (P = 0.273), or clarithromycin (P = 0.107). We found that the clinical and bacteriological efficacies of macrolides against MR M. pneumoniae pneumonia was low. Our results indicated that minocycline rather than tosufloxacin can be considered the first-choice drug for the treatment of M. pneumoniae pneumonia in children aged ≥ 8 years.


Asunto(s)
Antibacterianos/uso terapéutico , Azitromicina/uso terapéutico , Claritromicina/uso terapéutico , Fluoroquinolonas/uso terapéutico , Minociclina/uso terapéutico , Mycoplasma pneumoniae/efectos de los fármacos , Naftiridinas/uso terapéutico , Neumonía por Mycoplasma/tratamiento farmacológico , Adolescente , Niño , Preescolar , Farmacorresistencia Bacteriana/efectos de los fármacos , Humanos , Lactante , Recién Nacido , Masculino , Mutación , Mycoplasma pneumoniae/genética , Mycoplasma pneumoniae/metabolismo , Neumonía por Mycoplasma/microbiología , ARN Bacteriano/genética , ARN Ribosómico 23S/genética , Resultado del Tratamiento
15.
Antimicrob Agents Chemother ; 57(8): 4046-9, 2013 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-23716043

RESUMEN

We conducted nationwide surveillance to investigate regional differences in macrolide-resistant (MR) Mycoplasma pneumoniae strains in Japan. The prevalence of MR M. pneumoniae in pediatric patients gradually increased between 2008 and 2012. Although regional differences were observed, high levels of MR genes were detected in all seven surveillance areas throughout Japan and ranged in prevalence from 50% to 93%. These regional differences were closely related to the previous administration of macrolides.


Asunto(s)
Antiinfecciosos/farmacología , Farmacorresistencia Bacteriana , Eritromicina/farmacología , Neumonía por Mycoplasma/epidemiología , Antibacterianos/farmacología , Niño , Humanos , Japón/epidemiología , Pruebas de Sensibilidad Microbiana , Mutación , Mycoplasma pneumoniae/efectos de los fármacos , Mycoplasma pneumoniae/genética , Mycoplasma pneumoniae/aislamiento & purificación , Prevalencia , Infecciones del Sistema Respiratorio/microbiología
16.
Endocr J ; 60(1): 51-5, 2013.
Artículo en Inglés | MEDLINE | ID: mdl-23018980

RESUMEN

Isolated hypoaldosteronism is a rare and occasionally life-threatening cause of salt wasting in infancy. A 2-month-old Japanese boy of unrelated parents was examined for failure to thrive and poor weight gain. Laboratory findings were hyponatremia, hyperkalemia, high plasma renin and low aldosterone levels. Spot urine analysis by gas chromatography-mass spectrometry (GC-MS) showed that urinary excretion of corticosterone metabolites was elevated. Whereas excretion of 18-hydroxycortricosterone metabolites was within the normal range, excretion of aldosterone metabolites was undetectable. The patient was therefore suspected to have aldosterone synthase deficiency type 1. Sequence analysis of CYP11B2, the gene encoding aldosterone synthase (CYP11B2), showed that the patient was a compound heterozygote for c.168G>A, p.W56X in exon 1 and c.1149C>T, p.R384X in exon 7. p.W56X was inherited from his mother and p.R384X was from his father. Since both alleles contain nonsense mutations, a lack of CYP11B2 activity was speculated to cause his condition. To our knowledge, this is the first Japanese patient in which the molecular basis of aldosterone synthase deficiency type 1 has been clarified. This case also indicates that spot urinary steroid analysis is useful for diagnosis.


Asunto(s)
Citocromo P-450 CYP11B2/genética , Hipoaldosteronismo/genética , Alelos , Pueblo Asiatico/genética , Citocromo P-450 CYP11B2/deficiencia , Humanos , Lactante , Masculino , Mutación
17.
Front Neurol ; 13: 831523, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35463125

RESUMEN

Despite the fact that accessible digital musical instruments can take into account the level of cognitive demands, previous studies have been conducted with patients with mild cognitive impairment (MCI), and it is not known whether they can be used by people with moderate to severe dementia or dementia with worsening behavioral and psychological symptoms of dementia (BPSD). The participant was an 88-year-old woman with vascular dementia (VaD) (Mini-Mental State Examination [MMSE] and Neuropsychiatric Inventory [NPI] scores: 8 and 20, respectively). Music therapy (MT) was provided twice a week for 15 min, and MT sessions spanned over 18 months. For the MT, we used the cyber musical instrument with score (Cymis), an accessible digital musical instrument; it could be played using a touch panel and switches. The cognitive function of the participant declined further, with MMSE scores of 4 after 1 year and 0 after 1.5 years. BPSD peaked with the NPI score of 54 at 1 year and declined thereafter, although only apathy remained. Despite these changes, during MT, she was able to play the accessible digital musical instrument and focus on the performance. These results suggest that even patients with severe VaD can play an accessible digital instrument and continue active music therapy even if their BPSD progress with cognitive decline.

18.
Hum Genome Var ; 6: 49, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-31666975

RESUMEN

USP9X variants have been reported in patients with X-linked intellectual disability. Here, we report two female patients with intellectual disability and pigment abnormalities along Blaschko lines. Targeted resequencing identified two novel heterozygous variants, c.4068_4072del (p. (Leu1357Tyrfs*12)) and c.1201C>T (p. (Arg401*)), in USP9X. Our findings provide further evidence that USP9X variants cause intellectual disability.

19.
J Am Coll Surg ; 197(2): 254-60, 2003 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-12892809

RESUMEN

BACKGROUND: We investigated whether impaired preoperative natural killer (NK) cell activity correlates with asynchronous distant metastasis after curative surgery for rectal cancers. In addition, we examined if preoperative chemoradiotherapy for rectal cancers impairs NK cell activity and contributes to the induction of distant metastasis. STUDY DESIGN: Preoperative NK cell activity was examined in 174 rectal cancer patients. All patients were enrolled in this study and followed until asynchronous distant metastasis occurred. RESULTS: The mean NK activity in patients with stage IV disease (n = 20) was significantly lower than seen in other stages. There were no differences among stage I to stage III patients. In stage III patients, the cumulative distant metastasis-free rate after curative surgery was significantly lower in cases with NK activity of 25% or less than those with more than 25%. Preoperative chemoradiotherapy for stage I to III patients significantly impaired NK cell activity (n = 39), and the metastasis-positive ratio significantly increased among patients with stage II or stage III diseases (n = 30). Multivariate analysis indicated that dichotomized NK cell activity was a significant risk factor that is associated with distant metastasis as well as nodal involvement. CONCLUSIONS: In primary rectal cancers, NK cell activity is not necessarily impaired in accordance with the disease progression. It is considered an important background factor for developing asynchronous distant metastases in stage III rectal cancers. Neoadjuvant chemoradiotherapy impaired NK cell activity in selected patients, suggesting the necessity of concurrent immunotherapy for better outcomes.


Asunto(s)
Células Asesinas Naturales/inmunología , Metástasis de la Neoplasia/inmunología , Neoplasias del Recto/inmunología , Neoplasias del Recto/patología , Quimioterapia Adyuvante , Colectomía , Humanos , Metástasis de la Neoplasia/patología , Estadificación de Neoplasias , Estudios Prospectivos , Radioterapia Adyuvante , Neoplasias del Recto/terapia
20.
Dig Surg ; 20(5): 445-51, 2003.
Artículo en Inglés | MEDLINE | ID: mdl-12900537

RESUMEN

BACKGROUND/AIMS: To determine whether preoperative natural killer (NK) cell activity has any prognostic significance in colon cancer patients. METHODS: The study population consisted of 140 patients with colon cancer. NK cell activity was determined within 2 weeks before surgery in 128 patients and at the time of diagnosis in the remaining 12 patients who either did not undergo surgery or who underwent palliative surgery only. Disease progression and postoperative prognosis were examined in relation to NK cell activity. RESULTS: Decreases in NK cell activity did not necessarily correspond to tumor stage. In curatively operated stage I-III diseases, preoperative NK cell activity of 20% or less correlated with poor survival. Lower activity was also associated with metachronous distant metastases but not with local recurrences. In particular, more than half the stage III patients with attenuated NK cell activity developed metastases. Multivariate analysis indicated that attenuated NK cell activity was a significant parameter for predicting distant metastasis following curative surgery for colon cancer. CONCLUSION: Preoperative NK cell activity has a significant prognostic value in curatively operated colon cancer, particularly for the development of metachronous distant metastasis in stage III patients.


Asunto(s)
Neoplasias del Colon/inmunología , Neoplasias del Colon/patología , Neoplasias del Colon/cirugía , Células Asesinas Naturales/inmunología , Metástasis de la Neoplasia/inmunología , Distribución de Chi-Cuadrado , Femenino , Humanos , Masculino , Persona de Mediana Edad , Recurrencia Local de Neoplasia , Pronóstico , Modelos de Riesgos Proporcionales
SELECCIÓN DE REFERENCIAS
DETALLE DE LA BÚSQUEDA