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1.
J Infect Chemother ; 28(4): 569-575, 2022 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-35039227

RESUMEN

INTRODUCTION: The spread of third-generation cephalosporin-resistant Gram-negative bacteria is a serious concern in acute and post-acute care settings. This study aimed to understand the epidemiology and molecular background of fecal colonization of resistant Enterobacterales in elderly people. METHODS: In December 2015-December 2017, stool or rectal swab samples were collected from 101 elderly patients receiving home care, using long-term care facilities (LTCF), and living in nursing homes repeatedly at 3-9-month intervals. Patient clinical background data were collected from medical records. After phenotypic screening for extended-spectrum ß-lactamase (ESBL), AmpC-type ß-lactamase or carbapenemase production, drug resistance genes of isolates were analyzed using polymerase chain reaction (PCR). ESBL-producing Escherichia coli isolates obtained from the same patients in repetitive screenings were analyzed using PCR-based ORF typing. Risk factors for persistent carriage of resistant Enterobacterales were analyzed using multivariate analysis. RESULTS: Resistant Enterobacterales isolates were detected in 37 of 101 (36.6%) and 29 of 80 (36.3%) residents in first and second screenings, respectively. ESBL-producing E. coli accounted for 80% isolates, the most common being CTX-M-9-group ß-lactamase producers. Molecular epidemiological analysis revealed probable transmissions of ESBL-producing E. coli; 58% of ESBL-producing E. coli colonizers were persistent colonizers at least after 3 -month intervals. Age > 87 years and LTCF residence were independent risk factors for persistent carriage of ESBL-producing E. coli. CONCLUSIONS: We showed, for the first time, high persistent colonization rate of ESBL-producing E. coli among elderly people in post-acute care settings with probable horizontal transmission. We also identified significant risk factors for persistent colonization.


Asunto(s)
Infecciones por Escherichia coli , Escherichia coli , Anciano , Anciano de 80 o más Años , Antibacterianos/farmacología , Antibacterianos/uso terapéutico , Cefalosporinas/farmacología , Cefalosporinas/uso terapéutico , Escherichia coli/genética , Infecciones por Escherichia coli/microbiología , Heces/microbiología , Humanos , Japón/epidemiología , beta-Lactamasas/genética
2.
Geriatr Gerontol Int ; 18(3): 487-494, 2018 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-29143427

RESUMEN

AIM: Behavioral and psychological symptoms of dementia are an important source of distress for caregivers. The aim of the present study was to evaluate the effectiveness of educational intervention using printed educational material for reducing distress induced by behavioral and psychological symptoms of dementia among caregivers working at facilities without medical specialists and/or registered nurses. METHODS: A cluster quasi-randomized, controlled comparative trial was carried out at 17 facilities in Japan. Our intervention was an educational program administered at baseline using printed educational material for the care staff. The primary outcome was evaluated using the Japanese version of the Neuropsychiatric Inventory Questionnaire. The secondary outcome measures were caregiver burnout evaluated using the Japanese version of the Maslach Burnout Inventory and the care dependency of residents measured using the Japanese version of the Care Dependency Scale. RESULTS: The total Neuropsychiatric Inventory Questionnaire score decreased significantly in the intervention group (F [1355] = 6.57, P = 0.01), and the difference between the intervention and control groups was also significant (F [1355] = 4.78, P = 0.03). There were no significant changes in the Maslach Burnout Inventory or Care Dependency Scale scores in the intervention group, while the Maslach Burnout Inventory subscale (personal accomplishment) score decreased significantly in the control group. CONCLUSIONS: Our intervention achieved a significant reduction of distress among caregivers working at care homes without medical specialists and/or registered nurses. The findings of this research show that educational intervention can make a valuable contribution to training programs for care staff. Geriatr Gerontol Int 2018; 18: 487-494.


Asunto(s)
Agotamiento Profesional/prevención & control , Cuidadores/educación , Cuidadores/psicología , Demencia/terapia , Hogares para Ancianos/organización & administración , Agotamiento Profesional/epidemiología , Demencia/psicología , Humanos , Japón/epidemiología , Enfermeras y Enfermeros/estadística & datos numéricos , Evaluación de Programas y Proyectos de Salud , Especialización/estadística & datos numéricos , Materiales de Enseñanza
3.
BMC Res Notes ; 8: 619, 2015 Oct 29.
Artículo en Inglés | MEDLINE | ID: mdl-26514235

RESUMEN

BACKGROUND: The current state of eye diseases and treatments in the elderly as well as the relationships between dementia and systemic diseases remain unclear. Therefore, this study evaluated the prevalence of eye diseases, visual impairment, cognitive impairment, and falls (which are an important health issue and are considered one of the Geriatric Giants) in super-elderly people in Japan. METHODS: The subjects were 31 elderly people (62 eyes; mean age: 84.6 ± 8.8 years; age range 61-98 years) who were admitted to a geriatric health services facility. Eye treatment status, systemic diseases, dementia, and recent falls were investigated. Eye examinations including vision and intraocular pressure measurement, and slit-lamp biomicroscopy were conducted. RESULTS: Mean best corrected visual acuity (logMAR) was 0.51 ± 0.56, and mean intraocular pressure was 13.7 ± 3.5 mmHg. Approximately half of the subjects exhibited excavation of the optic nerve head including cataracts and glaucoma. Ten subjects had visual impairment (i.e., visual acuity of the eye with the better vision <20/40). The mean Hasegawa dementia scale scores between the visually impaired and non-visually impaired groups were 10.2 ± 6 and 16 ± 8 points, respectively (p < 0.05). Furthermore, 70% of subjects with visual impairment experienced a fall in the past year compared to 48% of those without visual impairment, although the difference was not significant. Regarding systemic diseases, there were 6, 5, and 15 cases of diabetes, hyperlipidemia, and hypertension, respectively. There was no significant difference between these systemic diseases and visual function after adjusted for age and gender. CONCLUSIONS: The percentages of patients with age-related eye diseases and poor visual acuity in a geriatric health services facility were extremely high. Compared to those without visual impairment, those with visual impairment had lower dementia scores and a higher rate of falls.


Asunto(s)
Envejecimiento/patología , Ceguera/patología , Catarata/patología , Trastornos del Conocimiento/patología , Demencia/patología , Glaucoma/patología , Baja Visión/patología , Accidentes por Caídas/estadística & datos numéricos , Anciano , Anciano de 80 o más Años , Ceguera/complicaciones , Ceguera/fisiopatología , Catarata/complicaciones , Catarata/fisiopatología , Trastornos del Conocimiento/complicaciones , Trastornos del Conocimiento/fisiopatología , Estudios Transversales , Demencia/complicaciones , Demencia/fisiopatología , Femenino , Glaucoma/complicaciones , Glaucoma/fisiopatología , Servicios de Salud para Ancianos , Humanos , Presión Intraocular , Japón , Masculino , Persona de Mediana Edad , Tonometría Ocular , Baja Visión/complicaciones , Baja Visión/fisiopatología , Agudeza Visual
5.
J Am Geriatr Soc ; 60(2): 251-5, 2012 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-22283781

RESUMEN

OBJECTIVES: To determine the approximate percentage of women in nursing homes who have vitamin D deficiency and to investigate whether, in assessing vitamin D status in elderly women, there are problems with measuring only 25 hydroxy-vitamin D(3) (25(OH)D(3) ) and whether decreased vitamin D activation as a result of poor renal function needs to be considered. DESIGN: Cross-sectional study. SETTING: Forty-eight nursing homes in Japan. PARTICIPANTS: Four hundred three women with a mean age of 86.5 living in nursing homes who had participated in a clinical trial for hip protectors and were not bedridden. MEASUREMENTS: At the start of the trial, in addition to general biochemical data, 25(OH)D(3) , 1,25-dihydroxy-vitamin D(3) (1,25(OH)(2) D(3) ), intact parathyroid hormone (intact PTH), calcium (Ca), phosphorus (P), bone alkaline phosphate (BAP), cross-linked N-telopeptide of type I collagen (NTx), and osteocalcin were measured in participants' blood, and statistical analysis was performed. RESULTS: 25(OH)D(3) , which is thought to reflect vitamin D status in the body, was surveyed and found to have a mean value of 16.7 ng/mL. 25(OH)D(3) was less than 16 ng/mL in 49.1% of all participants. Creatinine clearance (CCr) was less than 30 mL/min in 20.1% of participants. Participants with serum 25(OH)D(3) less than 16 ng/mL and CCr less than 30 mL/min had significantly higher levels of intact PTH and serum NTx. Participants with a CCr less than 30 mL/min had significantly lower levels of 1,25(OH)(2) D(3) . CONCLUSION: Frail elderly adults living in nursing homes with poor renal function had lower 1,25(OH)(2) D(3) and higher intact PTH levels and were thus thought to have poorer vitamin D activating capacity. Supplementation with cholecalciferol may be insufficient in people who have poor renal function.


Asunto(s)
Riñón/fisiopatología , Deficiencia de Vitamina D/epidemiología , Deficiencia de Vitamina D/etiología , Anciano , Anciano de 80 o más Años , Estudios Transversales , Femenino , Hogares para Ancianos , Humanos , Casas de Salud
6.
J Vet Med Sci ; 71(11): 1493-7, 2009 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-19959901

RESUMEN

To determine how to eliminate species difference in animal bone experiment, bone mineral content (BMC) was measured using dual energy X-ray absorptiometry (DXA) on the femurs of laboratory mice (Mus musculus) and rats (Rattus norvegicus), and common marmosets (Callithrix jacchus). Measures were taken on femurs in situ, detached from the body, skinned and defleshed, or dried completely. When the BMC of the bone measured in the intact limb attached to the trunk was set at 100%, the actual BMC of the dry bone was 58.7 +/- 11.5% in mice and 103.2 +/- 3.2% in rats. Similarly, the bone area (Area) and bone mineral density (BMD) of the dried femur was significantly lower in the mouse femurs than intact limb. Thus, soft limb tissue such as skin and muscle modified the BMC, Area, and BMD only in mouse but not in those from rats or marmosets. The bone mineral ratio (BMR; BMC divided by dry bone weight) was nearest to the human bone value in the rat femurs, whereas the mouse femur BMR was the most different. The BMR was proved to be a practical index in evaluating bone characteristics in laboratory animals, but the mouse femur might not be suitable as an animal model for research into the aging of human bone.


Asunto(s)
Absorciometría de Fotón , Densidad Ósea/fisiología , Callithrix/fisiología , Animales , Fémur/fisiología , Humanos , Ratones , Ratas
7.
Arch Gerontol Geriatr ; 48(1): 100-5, 2009.
Artículo en Inglés | MEDLINE | ID: mdl-18096255

RESUMEN

The purpose of this study was to clarify the relationship between oral function and general condition among Japanese nursing home residents. The hypothesis was that oral function is one of the most important factors for the maintenance of general condition in dependent elderly. Seventy-nine residents of a nursing home in Japan participated in this study (54 women and 25 men, age range: 65-95 years, mean age: 82.2+/-8.5). A water drinking test and gargling function were used as indicators of oral function. Indicators of general condition included cognitive function (mini-mental state examination; MMSE), ADL (Barthel index), and nutritional status (body mass index=BMI, and serum albumin level). To clarify the relationship between oral function and general condition among dependent elderly, statistical evaluations of correlations (Spearman rank correlation coefficient) and differences (Mann-Whitney U test, Student's t test) between groups were conducted. SPSS was used for the statistical analysis. The water drinking and gargling function tests showed a strong correlation (p<0.001) with cognitive function and ADL. The water drinking and gargling function tests showed a correlation with BMI (p<0.005, p<0.01, respectively), and the water drinking test showed a correlation with serum albumin level (p<0.05). However, no correlation was observed between the gargling function tests and serum albumin level. It is concluded that oral function is closely related to cognitive function, ADL, and nutritional status. Oral function may play an important role in maintaining general condition in dependent elderly. To prevent decreases in cognitive function, ADL and nutritional status in dependent elderly, the importance of improvements in oral function cannot be over-emphasized.


Asunto(s)
Actividades Cotidianas , Cognición/fisiología , Anciano Frágil , Boca/fisiología , Casas de Salud , Estado Nutricional/fisiología , Salud Bucal/normas , Anciano , Anciano de 80 o más Años , Ingestión de Líquidos/fisiología , Femenino , Humanos , Japón , Masculino
8.
Nagoya J Med Sci ; 70(1-2): 19-27, 2008 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-18807292

RESUMEN

The purpose of this study was to investigate the relation of the Falls Efficacy Scale (FES) to quality of life (QOL) among nursing home residents. The subjects were 133 institutionalized women aged 70 years or older. They had comparatively intact cognitive function, with a Mini-Mental State Examination (MMSE) score of 15 or more, and could provide sufficient informed consent for a questionnaire survey. We evaluated their age, height, weight, body-mass index, history of hip fracture, history of fall(s) within the past year, complicating conditions, MMSE, Medical Outcomes Study 8-Item Short-Form Health Survey (SF-8), FES, and their subscores for Functional Independence Measure (FIM) motor items (self care, sphincter control, transfer, locomotion). There was a significant relationship between the Physical Component Summary (PCS) of SF-8 and FES. In each subscale, FES showed significant relations that were especially close in physical functioning (PF) and role physical (RP), with those relations proving stronger than those of the subscores of transfer and locomotion. In conclusion, the present results suggested that taking account of mental confidence is important for physical QOL, and that falls self-efficacy, including not only physical activity per se but also mental confidence, should be given prominence in the physical QOL of the institutionalized elderly.


Asunto(s)
Accidentes por Caídas/estadística & datos numéricos , Casas de Salud , Desempeño Psicomotor , Calidad de Vida , Anciano , Anciano de 80 o más Años , Estudios Transversales , Femenino , Evaluación Geriátrica/métodos , Evaluación Geriátrica/estadística & datos numéricos , Humanos , Japón , Encuestas y Cuestionarios
9.
Arch Gerontol Geriatr ; 44(2): 119-24, 2007.
Artículo en Inglés | MEDLINE | ID: mdl-16723159

RESUMEN

Pneumonia can be a life-threatening infection, especially in the elderly, and it is a significant cause of morbidity and mortality. The purpose of this study was to assess the existence of oral infectious pathogens potentially causing the respiratory disease in the dependent elderly. The dental plaques of 138 dependent elderly were examined to identify microorganisms by the culture method. Twenty-one species of microorganisms were detected in the dental plaques in this study. In 89 cases out of 138 (64.5%), potential respiratory pathogens colonized in the dental plaques of the dependent elderly. The results of the present study revealed that bacteria that commonly cause respiratory infection colonized in dental plaques of the aged, dependent subjects. Therefore, dental plaques must be considered a specific reservoir of colonization and subsequent aspiration pneumonia in dependent elderly.


Asunto(s)
Placa Dental/microbiología , Reservorios de Enfermedades , Infecciones del Sistema Respiratorio/microbiología , Anciano , Anciano de 80 o más Años , Diente Canino/microbiología , Dentaduras , Femenino , Humanos , Masculino , Higiene Bucal , Neumonía por Aspiración
10.
Exp Anim ; 55(5): 415-8, 2006 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-17090956

RESUMEN

The characteristics of the mandible bone were compared through DXA methods between two major substrains of F344 rats, F344/DuCrlCrlj and F344/NSlc at around 60 days of age. Since these two substrains are clearly different in survival and mandible morphology, some genetic differences are supposed to exist. In contrast to a previous microsatellite analysis, clear and significant differences were detected in the body and mandible weights, the mandible bone mineral contents (BMC), bone area (AREA), bone mineral density (BMD) and bone mineral ratio (BMR), between F344/DuCrlCrlj and F344/NSlc, with the mandible molar teeth intact in the bone. Thus, care is needed in the experimental use of these substrains, as results may differ between them. The newly proposed parameter, BMR, may especially contribute to the comparison of bone characteristics among species.


Asunto(s)
Densidad Ósea , Mandíbula/diagnóstico por imagen , Mandíbula/metabolismo , Absorciometría de Fotón , Animales , Peso Corporal , Masculino , Ratas , Ratas Endogámicas F344 , Especificidad de la Especie
11.
Pediatr Surg Int ; 21(10): 780-5, 2005 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-16177921

RESUMEN

Anastomotic tension with the potential to lead to post-operative complication is usually evaluated using gap length before anastomosis in patients with esophageal atresia and a distal tracheoesophageal fistula (EA with a TEF). However a uniform, accurate measurement of gap length is not possible and estimation of the length the delicate distal esophageal stump is stretched by the anastomosis may have greater utility. The aim of this paper was to propose a novel method to evaluate the anastomotic tension in EA with a TEF. Forty consecutive patients having EA with a TEF were studied. Primary anastomosis without gastrostomy was performed in all cases. When the TEF was cut off, the most proximal site of the tracheal side was marked using a tiny metallic clip. When anastomosis was completed, the distance from the clip to the anastomotic site was measured as the stretched length. On the esophagram taken subsequently, the same distance was measured, together with the distance from the clip to the esophago-cardiac junction as the original distal esophageal length. The stretching ratio was calculated by dividing the former by the latter. The stretched length on esophagram (median: 3.0 mm, range: -12 to 21) was significantly correlated with that measured during surgery (median: 2.3 mm, range; -14 to 15) (r = 0.96, P < 0.0001). The median of original distal esophageal lengths was 60.0 mm (range: 35-80). The stretching ratio was significantly correlated with the stretched length, and the number of the stretching ratio as a percentage corresponded to about double the number of the stretched length on esophagram in millimeters (y = 1.91x + 0.58, r = 0.98, P<0.0001). Anastomotic leakage and recurrence of TEF were not experienced. In patients complicated with gastroesophageal reflux (GER), the site of TEF was significantly more distal as compared with the other cases [median (range): 5.0th (4.0-6.0) vs 3.5th (1.5-5.0) thoracic vertebral level, P<0.009]. The stretched length and the stretching ratio were also longer and larger, respectively [median (range): 10.0 mm (6-21) vs 2.0 (-12 to 14) mm, P<0.008, 17.3% (12.7-47.7) vs 2.9% (-16.4 to 29.8)%, P<0.018). Similar tendencies were observed for patients complicated with stricture. Estimation of the stretched length of the distal esophageal stump is useful to evaluate the anastomotic tension. If the stretched length is more than 10 mm, it will be necessary to consider the possibility that stricture or GER may arise afterwards.


Asunto(s)
Atresia Esofágica/cirugía , Esófago/cirugía , Fístula Traqueoesofágica/cirugía , Anastomosis Quirúrgica/métodos , Atresia Esofágica/complicaciones , Reflujo Gastroesofágico/complicaciones , Humanos , Recién Nacido , Complicaciones Posoperatorias , Fístula Traqueoesofágica/complicaciones
12.
J Pediatr Surg ; 40(9): 1411-9, 2005 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-16150342

RESUMEN

BACKGROUND/PURPOSE: Patients with zinc finger homeo box 1B (ZFHX1B) mutations or deletions develop multiple congenital anomalies including Hirschsprung disease, known as Mowat-Wilson syndrome (MWS). In this study, we investigated variations in the enteric neural plexus abnormalities in MWS using morphometry-based histopathologic analysis. METHODS: Seven patients with MWS (3 with mutations in exon 8 of ZFHX1B and 4 with deletions) who had undergone modified Duhamel's operations for Hirschsprung disease were examined. Surgically resected rectosigmoid specimens were analyzed morphometrically. RESULTS: The length of the aganglionic segment was longer than 3 cm in all the patients with deletions. In 3 patients with mutations, the aganglionic region was not detected in the surgically resected specimens; however, the parameters of the ganglions and plexus were significantly smaller than those of controls (cloaca and aproctia), indicative of a transitional zone. Variation in the severity of pathological changes among the 3 patients with mutations was also noted. CONCLUSIONS: The variations in myenteric plexus pathologies in MWS appear to be caused by both variations in ZFHX1B abnormalities and epigenetic factors.


Asunto(s)
Colon Sigmoide/inervación , Enfermedad de Hirschsprung/patología , Recto/inervación , Antropometría , Preescolar , Colon Sigmoide/patología , Femenino , Proteínas de Homeodominio/genética , Humanos , Masculino , Mutación , Recto/patología , Proteínas Represoras/genética , Caja Homeótica 2 de Unión a E-Box con Dedos de Zinc
14.
Nagoya J Med Sci ; 67(1-2): 17-23, 2004 May.
Artículo en Inglés | MEDLINE | ID: mdl-15279064

RESUMEN

We examined three intervention methods for their efficacy in preventing aspiration in 25 patients with Parkinson's disease (PD) and 23 patients with degenerative cerebellar ataxia (CA). On videofluoroscopic examination. 13 patients with PD (52%) and 7 patients with CA (30.4%) showed aspiration. In all PD patients and 5 patients with CA, no aspiration was observed after changing the food form. With the chin down posture and supraglottic swallow techniques, no aspiration was observed in only 1 PD patient. Among 7 patients with CA, the chin down posture and supraglottic swallow techniques resulted in the disappearance of aspiration in 4 patients. This indicates that changing the food form (ex. jelly) was effective in preventing aspiration in both PD and CA patients with a history of aspiration. In addition, the chin down posture and supraglottic swallow techniques were effective in preventing aspiration in CA patients with good sitting-position balance and cervical control.


Asunto(s)
Trastornos de Deglución/patología , Deglución , Fluoroscopía/métodos , Enfermedades Neurodegenerativas/diagnóstico , Enfermedades Neurodegenerativas/patología , Anciano , Anciano de 80 o más Años , Ataxia Cerebelosa/patología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Enfermedad de Parkinson/patología , Postura , Grabación en Video
15.
Gerodontology ; 20(1): 3-8, 2003 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-12926745

RESUMEN

BACKGROUND: The dramatic increase in the number of dependent elderly in developed countries has created a great need for their improved oral care. However, optimal oral care by caregivers is not possible because of time constraints, difficulty involved in brushing other individuals' teeth, lack of co-operation, and the lack of perceived need. Therefore, the development of an effective instrument simplifying and supporting oral care to relieve the strain on caregivers is a matter of some urgency. PURPOSE: In order to clean the mouths of elderly dependent patients, we have developed a new oral care support instrument (an electric toothbrush in combination with an antibacterial-agent supply and suction system). The purpose of the present study was to develop and evaluate a new oral care support instrument. METHODS: a) Plaque removal study: The plaque- removing ability of this new instrument in 70 outpatients was compared with the Plak Control D9011 (Braun Gillette Japan Inc.) as a control by means of the Turesky modification of the Quigley and Hein plaque index. b) Clinical study: The subjects were 10 dependent elderly who received oral care using the new oral care support instrument for two weeks. The plaque and gingival indices were used for clinical evaluations. RESULTS: a) Plaque removal study: Brushing with the new oral care support instrument removed significantly more plaque than with the Plak Control D9011. b) Clinical study: The new oral care support instrument allows a more effective removal of dental plaque and shows a significant improvement in the gingival indices in dependent elderly. CONCLUSION: It is concluded that the new oral care support instrument is effective and can be recommended for oral care in the dependent elderly.


Asunto(s)
Cuidado Dental para Ancianos/instrumentación , Dispositivos para el Autocuidado Bucal , Placa Dental/prevención & control , Higiene Bucal/instrumentación , Cepillado Dental/instrumentación , Administración Tópica , Anciano , Anciano de 80 o más Años , Antiinfecciosos Locales/administración & dosificación , Atención Dental para Enfermos Crónicos/instrumentación , Atención Dental para la Persona con Discapacidad/instrumentación , Diseño de Equipo , Femenino , Educación en Salud Dental/métodos , Humanos , Masculino , Persona de Mediana Edad , Índice Periodontal , Povidona Yodada/administración & dosificación
16.
Eur J Hum Genet ; 11(5): 364-8, 2003 May.
Artículo en Inglés | MEDLINE | ID: mdl-12734540

RESUMEN

Germline mutations in the RET proto-oncogene are responsible for the development of human hereditary diseases, including multiple endocrine neoplasia (MEN) type 2A and 2B, familial medullary thyroid carcinoma (FMTC), and Hirschsprung's disease (HSCR). It has been reported that some families developed both MEN 2A/FMTC and HSCR, in which a mutation in a cysteine residue at codon 609, 618, or 620 in the RET gene was present. Here we report a novel RET mutation detected in a Japanese family with medullary thyroid carcinoma and HSCR. A germline mutation in cysteine 611 of the RET gene was identified in this family, which introduced an amino-acid change from cysteine to serine. By biological and biochemical analyses of mutant RET proteins, we previously predicted the potentiality that amino-acid substitution for cysteine 611 as well as cysteines 609, 618, and 620 would promote the development of MEN 2A/FMTC and HSCR. This clinical case substantiates our suggestion for the mechanism of the development of both the diseases.


Asunto(s)
Sustitución de Aminoácidos , Enfermedad de Hirschsprung/genética , Mutación , Proteínas Proto-Oncogénicas/genética , Proteínas Tirosina Quinasas Receptoras/genética , Neoplasias de la Tiroides/genética , Análisis Mutacional de ADN , Femenino , Humanos , Masculino , Persona de Mediana Edad , Linaje , Proto-Oncogenes Mas , Proteínas Proto-Oncogénicas c-ret
17.
J Pediatr Surg ; 37(8): 1117-22, 2002 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-12149685

RESUMEN

BACKGROUND/PURPOSE: The aim of this report is to describe the pattern of similarities among the patients, exemplifying a newly recognized form of Hirschsprung's disease (HSCR) caused by mutations of ZFHX1B encoding Smad interacting protein-1. METHODS: Fluorescence in situ hybridization (FISH) using several cDNAs and RP11-BAC clones and mutation gene scanning using direct nucleotide sequencing analysis of polymerase chain reaction (PCR) were conducted. Personal records of the patients also were analyzed retrospectively to confirm the clinical features. RESULTS: All the patients represented isolated cases without any familial tendency. Aganglionic segments were limited to the recto-sigmoid colon in 3 cases and the rectum in one. Chromosomal screening found normal karyotypes in all cases except one, in whom a translocation between chromosomes 2 and 13 was detected. In addition to HSCR, characteristic facial appearance (hypertelorism with strabismus and wide nasal bridge), microcephaly with epilepsy, and severe physical and mental disabilities were found in all the patients. FISH for the patient having the chromosomal abnormality showed that about a 5-Mb cytogenetic deletion flanked at the 2q22 translocation breakpoint. Among 3 genes mapping to this deleted region, 2 nonsense mutations and a 4-base pair deletion were detected in ZFHX1B. CONCLUSIONS: The clinical features of the patients have surprising resemblance and constitute a wide spectrum of neurocristopathies. These findings suggest that the ZFHX1B may be a very important gene for normal embryonic neural crest development. These also indicate that the HSCR can be regarded as a congenital malformation with a background of a multigenetic neurocristopathy. It is of great interest that mutations were located at the same spot (exon 8) of ZFHX1B in 3 of 4 cases, probably accounting for the unique clinical features of this newly recognized form of HSCR.


Asunto(s)
Codón sin Sentido , Enfermedad de Hirschsprung/diagnóstico , Enfermedad de Hirschsprung/genética , Proteínas de Homeodominio/genética , Proteínas Represoras/genética , Eliminación de Secuencia , Adulto , Niño , Mapeo Cromosómico , Cromosomas Humanos Par 13 , Cromosomas Humanos Par 2 , Proteínas de Unión al ADN/metabolismo , Femenino , Proteínas de Homeodominio/metabolismo , Humanos , Recién Nacido , Masculino , Proteínas Represoras/metabolismo , Estudios Retrospectivos , Proteínas Smad , Transactivadores/metabolismo , Translocación Genética , Caja Homeótica 2 de Unión a E-Box con Dedos de Zinc
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