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1.
Public Health ; 216: 39-44, 2023 Mar.
Article in English | MEDLINE | ID: mdl-36791649

ABSTRACT

OBJECTIVE: The aim of this study was to investigate the epidemiology of post-COVID conditions beyond 12 months and identify factors associated with the persistence of each condition. STUDY DESIGN: This was a cross-sectional questionnaire-based survey. METHODS: We conducted the survey among patients who had recovered from COVID-19 and visited our institute between February 2020 and November 2021. Demographic and clinical data and data regarding the presence and duration of post-COVID conditions were obtained. We identified factors associated with the persistence of post-COVID conditions using multivariable linear regression analyses. RESULTS: Of 1148 surveyed patients, 502 completed the survey (response rate, 43.7%). Of these, 393 patients (86.4%) had mild disease in the acute phase. The proportion of participants with at least one symptom at 6, 12, 18, and 24 months after symptom onset or COVID-19 diagnosis was 32.3% (124/384), 30.5% (71/233), 25.8% (24/93), and 33.3% (2/6), respectively. The observed associations were as follows: fatigue persistence with moderate or severe COVID-19 (ß = 0.53, 95% confidence interval [CI] = 0.06-0.99); shortness of breath with moderate or severe COVID-19 (ß = 1.39, 95% CI = 0.91-1.87); cough with moderate or severe COVID-19 (ß = 0.84, 95% CI = 0.40-1.29); dysosmia with being female (ß = -0.57, 95% CI = -0.97 to -0.18) and absence of underlying medical conditions (ß = -0.43, 95% CI = -0.82 to -0.05); hair loss with being female (ß = -0.61, 95% CI = -1.00 to -0.22), absence of underlying medical conditions (ß = -0.42, 95% CI = -0.80 to 0.04), and moderate or severe COVID-19 (ß = 0.97, 95% CI = 0.41-1.54); depressed mood with younger age (ß = -0.02, 95% CI = -0.04 to -0.004); and loss of concentration with being female (ß = -0.51, 95% CI = -0.94 to -0.09). CONCLUSIONS: More than one-fourth of patients after recovery from COVID-19, most of whom had had mild disease in the acute phase, had at least one symptom at 6, 12, 18, and 24 months after onset of COVID-19, indicating that not a few patients with COVID-19 suffer from long-term residual symptoms, even in mild cases.


Subject(s)
COVID-19 , Humans , Female , Male , Post-Acute COVID-19 Syndrome , COVID-19 Testing , Cross-Sectional Studies , Cough
2.
J Agromedicine ; 16(3): 174-93, 2011.
Article in English | MEDLINE | ID: mdl-21728869

ABSTRACT

The North American Guidelines for Children's Agricultural Tasks (NAGCAT) were developed to reduce the risk of childhood agricultural injury. The purpose of this study was to evaluate compliance with NAGCAT-recommended work practices (WPs) when youth work with large animals. On a daily basis, over a period of 10 weeks, youth self-reported the number of minutes they worked with a large animal and whether they followed the associated NAGCAT WP guidelines. Statistical analyses were conducted to compare boys to girls and to consider the effect of factors such as youth age, farm residence status, and selected parental characteristics. A high proportion of youth exhibited relatively low compliance for most of the five WPs evaluated. Respirators were rarely worn, but checking for people and obstacles in the area while working with large animals was commonly reported. In general, boys, especially the older boys, exhibited higher compliance than did girls. The results of our study demonstrate, in general, that youth are not following recommended NAGCAT WPs when working with large animals, identifying an area in agricultural safety and health requiring focused attention.


Subject(s)
Accidents, Occupational/prevention & control , Agriculture/methods , Agriculture/statistics & numerical data , Guideline Adherence , Occupational Injuries/prevention & control , Adolescent , Agriculture/standards , Animals , Child , Female , Guideline Adherence/statistics & numerical data , Guidelines as Topic , Humans , Male , Ohio , Protective Clothing/statistics & numerical data , Safety Management/methods , Sex Distribution
3.
J Agric Saf Health ; 17(2): 127-46, 2011 Apr.
Article in English | MEDLINE | ID: mdl-21675283

ABSTRACT

Unintentional injury is the leading cause of death in the U.S. among persons 1 to 44 years of age. Over one million children and adolescents in the U.S. live, work, and/or play on farms, where injury risk is relatively high compared to other settings. In an attempt to reduce the number of childhood agricultural injuries occurring on farms, the North American Guidelines for Children's Agricultural Tasks (NAGCAT) was developed to assist parents or other caregivers in assigning developmentally appropriate chores to youth exposed to agricultural hazards. The results presented here are from a longitudinal study in which we obtained (self-reported) daily chore, injury, and safety behavior data from children and adolescents. We focused on one NAGCAT chore, cleaning a service alley in a stall barn, in order to estimate the extent of compliance with specific work practice recommendations contained in the NAGCAT. Our results indicated that among the four NAGCAT-recommended safety practices for cleaning service alleys in stall barns (wearing nonskid shoes, leather gloves, a respirator, and eye protection), wearing non-skid shoes was the only safety practice reported with any degree of regularity. Overall, boys were more likely to wear non-skid shoes compared to girls. In addition, older youth were generally more likely to report higher work practice compliance compared to younger youth.


Subject(s)
Accidents, Occupational/prevention & control , Agriculture/standards , Guideline Adherence/statistics & numerical data , Protective Clothing/statistics & numerical data , Respiratory Protective Devices/statistics & numerical data , Safety Management/statistics & numerical data , Adolescent , Agriculture/methods , Child , Female , Guidelines as Topic , Humans , Longitudinal Studies , Male , Ohio , Safety , Safety Management/methods , Sex Distribution
4.
Clin Genet ; 79(4): 321-8, 2011 Apr.
Article in English | MEDLINE | ID: mdl-21204803

ABSTRACT

Lynch syndrome (LS) is the most common inherited form of colorectal cancer. Mutation carriers can reduce the morbidity and mortality associated with colorectal cancer through colonoscopy. Theoretical models suggest that such health-related behaviors might also bring psychological benefits. This study assessed whether colonoscopy following mutation detection was associated with the levels of depressive symptoms. Data were obtained from a prospective family cohort study offering genetic services for LS. Participants completed questionnaires prior to the provision of services and 6 months post-receipt of mutation results. One hundred thirty-four (134) persons were identified to carry a mutation and completed both the questionnaires. Main outcome measures were depressive symptoms 6 months post-receipt of test results. Mutation carriers who did not complete a colonoscopy within the 6 months following receipt of results were six times (p < 0.01; odds ratio = 6.06) more likely to report depressive symptoms at a level of clinical importance post-receipt of test results compared to those who did undergo colonoscopy. Facilitating the expeditious use of colonoscopy following mutation detection may benefit newly identified mutation carriers by addressing the objective risks for cancer and moderating underlying emotional distress responses to genetic risk information. Furthermore, depressive symptoms may interfere with behavioral compliance in some patients, suggesting referral to mental health specialists.


Subject(s)
Colonoscopy/methods , Colorectal Neoplasms, Hereditary Nonpolyposis/genetics , Genetic Testing/methods , Mutation , Adaptation, Psychological , Adaptor Proteins, Signal Transducing/genetics , Adolescent , Adult , Aged , Aged, 80 and over , Colorectal Neoplasms, Hereditary Nonpolyposis/diagnosis , Colorectal Neoplasms, Hereditary Nonpolyposis/psychology , DNA-Binding Proteins/genetics , Depression/psychology , Family Health , Female , Humans , Logistic Models , Male , Middle Aged , MutL Protein Homolog 1 , MutS Homolog 2 Protein/genetics , Nuclear Proteins/genetics , Outcome Assessment, Health Care , Prospective Studies , Surveys and Questionnaires , Young Adult
5.
Public Health Genomics ; 14(4-5): 307-16, 2011.
Article in English | MEDLINE | ID: mdl-20829577

ABSTRACT

OBJECTIVES: This study examined the levels of genetic knowledge, health literacy and beliefs about causation of health conditions among individuals in different age groups. METHODS: Individuals (n = 971) recruited through 8 community health centers in Suffolk County, New York, completed a one-time survey. RESULTS: Levels of genetic knowledge were lower among individuals in older age groups (26-35, p = 0.011; 36-49, p = 0.002; 50 years and older, p<0.001) compared to those in the youngest age group (18-25). Participants in the oldest age group also had lower health literacy than those in the youngest group (p <0.001). Those in the oldest group were more likely to endorse genetic (OR = 1.87, p = 0.008) and less likely to endorse behavioral factors like diet, exercise and smoking (OR = 0.55, p = 0.010) as causes of a person's body weight than those in the youngest group. Higher levels of genetic knowledge were associated with higher likelihood of behavioral attribution for body weight (OR = 1.25, p <0.001). CONCLUSIONS: Providing additional information that compensates for their lower genetic knowledge may help individuals in older age groups benefit from rapidly emerging genetic health information more fully. Increasing the levels of genetic knowledge about common complex diseases may help motivate individuals to engage in health promoting behaviors to maintain healthy weight through increases in behavioral causal attributions.


Subject(s)
Age Factors , Genetics , Health Literacy , Adult , Humans , Middle Aged , New York
6.
Clin Genet ; 75(1): 43-9, 2009 Jan.
Article in English | MEDLINE | ID: mdl-19021640

ABSTRACT

The associations between characteristics of family relationships and family trends in cancer worry and the psychological adjustment of recipients of genetic testing for cancer susceptibility were investigated. Data provided by 178 individuals from 24 families with Lynch syndrome who participated in a cohort study investigating psychological and behavioral outcomes of genetic testing were used. Responses from multiple family members were aggregated to construct family trends representing norms and departure from norms in cancer worry. Lower perceived family cohesion at baseline and decrease in this variable at 6 months after receipt of test results were associated with higher depression scores at 12 months. More variability in cancer worry among family members at baseline was also associated with higher depression scores at 12 months. Increase in family conflict was associated with decrease in depression scores among individuals from families with higher levels of cancer worry on average and less variability among the members. Family relationships and family trends in levels of cancer worry may play important roles in the psychological adjustment of genetic test recipients. The findings highlight the complexity of familial environment surrounding individuals that undergo genetic testing and suggest the benefits of considering these factors when providing genetic services.


Subject(s)
Depression/psychology , Family Relations , Genetic Predisposition to Disease/psychology , Genetic Testing/psychology , Neoplasms/genetics , Neoplasms/psychology , Adolescent , Adult , Aged , Aged, 80 and over , Cohort Studies , Colorectal Neoplasms, Hereditary Nonpolyposis/diagnosis , Colorectal Neoplasms, Hereditary Nonpolyposis/genetics , Colorectal Neoplasms, Hereditary Nonpolyposis/psychology , Depression/classification , Female , Humans , Male , Middle Aged , Neoplasms/diagnosis , Young Adult
7.
Scand J Gastroenterol ; 38(5): 456-61, 2003 May.
Article in English | MEDLINE | ID: mdl-12795453

ABSTRACT

BACKGROUND: Treatment of gastroesophageal reflux (GER) with proton-pump inhibitors (PPI) improves symptoms of asthma in some patients. However, the effects of a PPI on ventilatory function are still controversial. In this study, we measured ventilatory function in asthma patients treated with a PPI in order to identify those in whom a therapeutic effect on asthma can be expected from the acid suppression. METHODS: From a cohort of 114 consecutive patients with bronchial asthma, 53 patients agreed to participate in the study and were treated with rabeprazole 20mg daily for 8 weeks during an asymptomatic, stable period with no exacerbations of their asthma. Of the 53 patients, 22 were diagnosed as GER on the basis of the QUEST questionnaire and endoscopic examination. The patients were monitored for improvement in ventilatory function. RESULTS: Four patients dropped out because of adverse drug reactions. All the patients with GER noted an improvement in reflux symptoms with PPI treatment. An improvement of more than 20% in peak expiratory flow (PEF) was observed in 8 of 21 GER patients but in none of the non-GER patients. Factors predictive of improvement in PEF with rabeprazole therapy were the QUEST score (odds ratio: 1.47, 95% CI: 1.06-2.04, P = 0.022) and steroid-dependency of asthma (odds ratio: 0.01, 95% CI: 0.001-0.31, P = 0.008). CONCLUSIONS: Treatment with rabeprazole is expected to ameliorate asthma in non-steroid-dependent patients who have symptomatic GER defined by the QUEST score.


Subject(s)
Anti-Ulcer Agents/therapeutic use , Asthma/drug therapy , Benzimidazoles/therapeutic use , Gastroesophageal Reflux/drug therapy , Proton-Translocating ATPases/antagonists & inhibitors , Pulmonary Ventilation/drug effects , 2-Pyridinylmethylsulfinylbenzimidazoles , Aged , Anti-Ulcer Agents/pharmacology , Asthma/etiology , Benzimidazoles/pharmacology , Female , Gastroesophageal Reflux/complications , Humans , Male , Omeprazole/analogs & derivatives , Pulmonary Ventilation/physiology , Rabeprazole , Respiratory Function Tests
8.
Oncol Rep ; 8(3): 521-6, 2001.
Article in English | MEDLINE | ID: mdl-11295073

ABSTRACT

beta-catenin is a kind of cytoplasmic protein involved in cell adhesion and signal transduction. This study investigated its expression in various subtypes of renal cell carcinomas (RCCs) using an immunohistochemical staining method. beta-catenin expression was assessed from staining frequency and staining score. Staining score was performed by evaluating both staining percentage and intensity. All subtypes of RCCs reacted positively with beta-catenin. However, the positive frequency and staining score in papillary and chromophobe RCCs were significantly higher than those in conventional RCCs (p < 0.05). In addition, in conventional RCCs, the positive frequency and staining score of beta-catenin showed a significant difference between nuclear grades I/II and grade III (p < 0.05). Therefore, it may indicate that beta-catenin can serve as a complementary tool to distinguish conventional RCCs from chromophobe RCCs. In conventional RCCs with low nuclear grades, beta-catenin expression is generally down-regulated, while it appears to be preserved in those with high nuclear grades.


Subject(s)
Biomarkers, Tumor , Cadherins , Carcinoma, Renal Cell/diagnosis , Cytoskeletal Proteins , Kidney Neoplasms/diagnosis , Trans-Activators , Adult , Aged , Aged, 80 and over , Biomarkers, Tumor/metabolism , Cadherins/metabolism , Carcinoma, Renal Cell/classification , Carcinoma, Renal Cell/metabolism , Cytoskeletal Proteins/metabolism , Female , Humans , Immunoenzyme Techniques , Kidney/metabolism , Kidney/pathology , Kidney Neoplasms/classification , Kidney Neoplasms/metabolism , Male , Middle Aged , Neoplasm Staging , Up-Regulation , beta Catenin
9.
Hinyokika Kiyo ; 47(1): 31-4, 2001 Jan.
Article in Japanese | MEDLINE | ID: mdl-11235218

ABSTRACT

A 69-year-old man was referred to our department for a cystic tumor, 4.0 cm in diameter, in the lower portion of the right kidney, which was detected by computed tomography. The patient had been admitted to the department of surgery in our hospital for treatment of ileus caused by transverse colon cancer. With a diagnosis of cystic renal cell carcinoma. T2N0M0, in situ non-ischemic tumor enucleation was performed using a microwave tissue coagulator (Microtaze, Heiwa Electronics Industry Inc., Tokyo). The enucleation was accompanied by a defect of the renal pelvis, but it was easily repaired. The operation time was 120 minutes and blood loss was 110 cc. The histological diagnosis was renal cell carcinoma, pT2N0M0V1, expansive, alveolar type, clear cell subtype, G1 > G2. Diagnostic imaging done postoperatively showed no sign of damage to renal function. At the present time, the patient has been disease-free with interferon-alpha for 12 months and is being followed on an outpatient basis. In this report, the advantages of nephron-sparing surgery, especially in situ non-ischemic tumor enucleation using a microwave tissue coagulator for renal tumor are discussed. In particular, the technique of performing tumor enucleation with repair of the defect of renal pelvis used in this case may extend the indication of nephron-sparing surgery.


Subject(s)
Carcinoma, Renal Cell/surgery , Electrocoagulation/instrumentation , Kidney Neoplasms/surgery , Microwaves , Nephrectomy/instrumentation , Aged , Carcinoma, Renal Cell/pathology , Colonic Neoplasms , Humans , Kidney Neoplasms/pathology , Kidney Pelvis/surgery , Male , Neoplasms, Multiple Primary , Nephrectomy/methods
10.
Appl Immunohistochem Mol Morphol ; 9(4): 315-8, 2001 Dec.
Article in English | MEDLINE | ID: mdl-11759057

ABSTRACT

Paxillin is a cytoskeletal protein that was recently identified as a component of focal adhesions and links between F-actin and integrin. In this study, 91 renal tumors--65 conventional renal cell carcinomas (RCCs), 14 papillary RCCs, 6 chromophobe RCCs, 4 collecting duct carcinomas, 2 oncocytomas--were investigated for the immunohistochemical expression of paxillin. In a normal kidney, paxillin was predominantly expressed in the cytoplasm of distal tubules, loops of Henle, collecting ducts, and vascular smooth muscle cells. In all of the chromophobe RCCs and oncocytomas, strong expression of paxillin was observed in the tumor cytoplasm. In contrast to these tumors, conventional RCCs, papillary RCCs, and collecting duct carcinomas showed negative reactions for paxillin except for one case in each subgroup with weak reactivity. An immunoblot analysis confirmed the presence of paxillin in healthy kidney, chromophobe RCC, and oncocytoma. These data suggest that paxillin possibly plays a role in signal transductions as a focal adhesion intervening between tumor cells and the extracellular matrix in renal tumors with collecting duct phenotypes such as chromophobe RCCs and oncocytomas, but not in conventional RCCs. In addition, paxillin may be an available marker in distinguishing chromophobe RCCs from conventional or papillary RCCs.


Subject(s)
Adenoma, Oxyphilic/metabolism , Carcinoma, Renal Cell/metabolism , Cytoskeletal Proteins/metabolism , Kidney Neoplasms/metabolism , Neoplasm Proteins/metabolism , Phosphoproteins/metabolism , Adenoma, Oxyphilic/diagnosis , Adenoma, Oxyphilic/pathology , Adult , Aged , Aged, 80 and over , Biomarkers, Tumor/metabolism , Carcinoma, Renal Cell/diagnosis , Carcinoma, Renal Cell/pathology , Cell Compartmentation , Cytoplasm/chemistry , Diagnosis, Differential , Female , Humans , Immunoblotting , Immunohistochemistry , Kidney Neoplasms/diagnosis , Kidney Neoplasms/pathology , Male , Middle Aged , Paxillin
11.
Mod Pathol ; 13(10): 1109-14, 2000 Oct.
Article in English | MEDLINE | ID: mdl-11048805

ABSTRACT

Vinculin is a cytoskeletal protein associated with membrane actin-filament-attachment sites of cell-cell and cell-matrix adherens-type junctions. In this article, we examine the expression of vinculin to elucidate its role in human renal neoplasms. We reviewed surgically resected specimens and selected available tissue from 79 renal tumors in 78 patients. There were 55 men and 23 women. Their mean age was 61 years and the mean size of the renal tumors was 6.1 cm. All renal tumors were examined by immunohistochemistry using a monoclonal antibody against vinculin. Overall, 17 (21.5%) renal tumor samples reacted with vinculin. The positive ratio in various types of renal tumors was as follows: conventional-type (clear cell), 0/54; papillary-type, 5/12; chromophobe-type, 5/5; sarcomatoid-type, 3/4; collecting duct carcinoma, 3/3; and oncocytoma, 1/1. The positive rate of conventional-type renal cell carcinomas (RCCs) is significantly different from that of other renal tumors (P < .01). Normal kidney, conventional, and papillary-type RCCs exhibited positive signals in Western blot analysis. These results suggest that vinculin may serve as a useful marker of renal neoplasms with collecting duct system phenotype such as chromophobe-type RCC.


Subject(s)
Biomarkers, Tumor/metabolism , Carcinoma, Renal Cell/metabolism , Kidney Neoplasms/metabolism , Kidney Tubules, Collecting/metabolism , Vinculin/metabolism , Blotting, Western , Carcinoma, Renal Cell/pathology , Embryonic and Fetal Development , Humans , Immunohistochemistry , Kidney/embryology , Kidney/metabolism , Kidney Neoplasms/pathology , Kidney Tubules, Collecting/pathology , Phenotype
12.
Clin Cancer Res ; 6(10): 3817-22, 2000 Oct.
Article in English | MEDLINE | ID: mdl-11051223

ABSTRACT

Mutations of the von Hippel-Lindau (VHL) tumor suppressor gene have been detected in up to 60% of sporadic clear cell renal carcinomas (RCCs). Even patients with RCCs believed to be curable with radical nephrectomy sometimes develop distant metastasis 5-10 years after surgery, suggesting hematogenous circulation of cancer cells. Useful tumor markers have not yet been established for RCC. To detect patients at high risk of metastasis after surgery, we developed a highly sensitive and specific nested reverse transcription-PCR method using VHL gene mutation to detect circulating cancer cells. We screened 29 sporadic clear cell RCCs from patients for mutations of the VHL gene by direct sequencing. We next examined blood samples from patients with the VHL gene mutation using mutation-specific nested reverse transcription-PCR. Somatic mutations were detected in 20 of 29 (69.0%) sporadic clear cell RCCs. The VHL gene mutations were detected in peripheral and/or renal venous blood from 15 of 20 (75%) patients. The mutations were detected in the peripheral blood in 2 of 17 (11.8%) patients before surgery, 6 of 16 (37.5%) patients within 24 h after surgery, 3 of 16 (18.8%) patients on day 7 after surgery, and 2 of 11 (18.2%) patients on day 30 after surgery. In seven of nine (77.8%) patients, mutations were detected in renal venous blood during surgery. These findings indicate the presence of circulating cancer cells with VHL gene mutation. Although much larger studies are needed to determine the clinical significance, our study shows that this technique is feasible for detecting circulating RCC cells.


Subject(s)
Carcinoma, Renal Cell/blood , Carcinoma, Renal Cell/genetics , Kidney Neoplasms/blood , Kidney Neoplasms/genetics , Ligases , Mutation , Neoplastic Cells, Circulating/metabolism , Protein Biosynthesis , Proteins/genetics , Tumor Suppressor Proteins , Ubiquitin-Protein Ligases , Adult , Aged , Aged, 80 and over , Alleles , DNA, Complementary/metabolism , Female , Humans , Male , Middle Aged , Models, Genetic , RNA/metabolism , Reverse Transcriptase Polymerase Chain Reaction , Risk , Sensitivity and Specificity , Sequence Analysis, DNA , Time Factors , Von Hippel-Lindau Tumor Suppressor Protein
13.
J Music Ther ; 37(3): 170-82, 2000.
Article in English | MEDLINE | ID: mdl-10990595

ABSTRACT

This study examined the effectiveness of reminiscence focused music therapy treatment on depressive symptoms in elderly people with dementia. Twenty elderly (3 male & 17 female) who were diagnosed as having dementia and residing at 2 different residential care facilities in Florida were assigned to 1 of 4 small groups. Each of the participants served as his or her own control in an O1 O2 X O3 design. The depressive symptoms were measured using Cornell Scale for Depression in Dementia. The differences between the scores of pretest, posttest 1 after a week of 5-day no treatment, and posttest 2 after a week of 5-day reminiscence focused music therapy treatment were compared. A one-way analysis of variance (ANOVA) and Newman-Keuls Multiple Comparison Procedure indicated statistically significant differences between pretest and posttest 2 as well as posttest 1 and posttest 2, while no significant differences were found between pretest and posttest 1. Results indicated that participation in small group reminiscence focused music therapy groups might help to reduce depressive symptoms in elderly people with dementia. Results of behavioral observations and future implications are also discussed.


Subject(s)
Dementia/complications , Depression/therapy , Music Therapy/methods , Aged , Aged, 80 and over , Analysis of Variance , Depression/etiology , Female , Florida , Homes for the Aged , Humans , Male , Mental Recall , Nursing Homes , Psychiatric Status Rating Scales
14.
Nihon Rinsho ; 58(7): 1448-54, 2000 Jul.
Article in Japanese | MEDLINE | ID: mdl-10921322

ABSTRACT

The von Hippel-Lindau (VHL) disease is a multitumor syndrome characterized by CNS hemangioblastoma, pheochromocytoma and renal cell carcinoma. The VHL disease gene is a putative tumor suppressor gene responsible for VHL disease. VHL disease without pheochromocytoma (pheo) and those with pheo are classified as type 1 or type 2, respectively. Germline missense mutations are clustered in 4 regions in the VHL gene. The VHL protein is now regarded as a one of the key protein for ubiquitination and further degradation of certain transcription factors such as hypoxia inducible factor (HIF). Since almost of germline mutations are detectable, presymptomatic diagnosis of the VHL disease with DNA analyses is important to improve the prognosis of VHL disease.


Subject(s)
Ligases , Tumor Suppressor Proteins , Ubiquitin-Protein Ligases , von Hippel-Lindau Disease , Follow-Up Studies , Genes, Tumor Suppressor/genetics , Germ-Line Mutation , Humans , Proteins/genetics , Proteins/physiology , Sequence Analysis, DNA , Von Hippel-Lindau Tumor Suppressor Protein , von Hippel-Lindau Disease/diagnosis , von Hippel-Lindau Disease/genetics
15.
Jpn J Cancer Res ; 91(2): 204-12, 2000 Feb.
Article in English | MEDLINE | ID: mdl-10761708

ABSTRACT

We have previously reported on the analysis of germ-line mutations in Japanese von Hippel-Lindau disease (VHL) patients and found mutations in 26 families. We have now extended these studies to include an additional 41 VHL families. Germ-line mutation of the VHL gene was screened by DNA-SSCP, direct sequencing, and Southern blot analysis. To summarize all of the data we have studied in this and our previous report, germ-line mutations have been detected in 55 of 77 (73%) (type 1: 41/62 (66%) and type 2: 14/15 (93%)) families. We found similarities in the nature of germ-line mutations including mutational incidence, location, and DNA substitution patterns between Japanese and Western VHL. These similarities may reflect the predominance of endogenous mutational processes. We also found several interesting characteristics in Japanese VHL. Twenty of 41 (49%) intragenic mutations were unique and not reported in the Western VHL. Four mutations (Arg113Stop, Gln132Stop, Leu158Val, and Cys162Tyr) previously characterized as type 1 mutations were identified in the type 2 (with pheochromocytoma) Japanese families. Genotype-phenotype correlation study suggested non-missense mutations predicted to result in the loss of VHL function were associated with the occurrence of renal cell carcinoma, as in sporadic tumors. Our data add to the diversity of VHL germ-line mutations and provide a better understanding of VHL disease in terms of both clinical management and molecular pathogenesis.


Subject(s)
Germ-Line Mutation , von Hippel-Lindau Disease/genetics , Genotype , Humans , Phenotype
17.
Int J Urol ; 6(4): 208-10, 1999 Apr.
Article in English | MEDLINE | ID: mdl-10226841

ABSTRACT

BACKGROUND: Nephrogenic adenoma is an uncommon, benign metaplastic lesion occurring in the urothelium, usually as a response to chronic irritation or trauma. It is rarely encountered in hemodialysis patients. Endoscopically, these lesions can easily be mistaken for malignant tumors. METHODS/RESULTS: We report on a case of nephrogenic adenoma of the bladder in a chronic hemodialysis patient that was large and mistakenly diagnosed as transitional cell carcinoma in the initial biopsy. Histopathological examination of the total cystectomy specimen demonstrated the correct diagnosis of nephrogenic adenoma. CONCLUSION: Increased awareness by urologists and pathologists of nephrogenic adenoma may lead to its more accurate diagnosis.


Subject(s)
Adenoma/diagnostic imaging , Kidney Failure, Chronic/complications , Kidney Neoplasms/diagnostic imaging , Renal Dialysis , Adenoma/complications , Adenoma/pathology , Aged , Female , Humans , Kidney Failure, Chronic/therapy , Kidney Neoplasms/complications , Kidney Neoplasms/pathology , Tomography, X-Ray Computed
18.
Hinyokika Kiyo ; 44(8): 541-6, 1998 Aug.
Article in Japanese | MEDLINE | ID: mdl-9783188

ABSTRACT

We treated 97 patients with staghorn calculi by ESWL monotherapy using a Lithostar Lithotriptor (Siemens) between January 1989 and December 1996. Seventeen patients (18 renal units) out of 45 patients (47 renal units) who could be followed up for more than 12 months after ESWL had no stones on radiographs at 3 months after the treatment. The actuarial non-recurrence (or stone-free) rate was 88.9% at 1 year, 79.0% at 3 years, and 63.2% at 5 years after ESWL (Kaplan-Meier method). The actuarial non-regrowth rate (regrowth < 1 mm) was 96.6% at 1 year, 72.8% at 3 years, and 63.7% at 5 years (Kaplan-Meier method). History of urinary stones was a significant risk factor for stone recurrence, while patient sex, affected side, stone number, pyuria (> or = 10/HPF), hydronephrosis on DIP, and staghorn type were not significantly associated with stone recurrence or regrowth (Cox proportional hazard model). Late complications associated with ESWL included renal dysfunction (serum Cr > or = 1.1 mg/dl) in 2 patients, hypertension (> or = 160 mmHg) in 3, and renal atrophy (two-dimensional size < or = 80%) in 5. ESWL exerted adverse effects in a session-dependent manner on the kidney resulting in renal atrophy. Therefore, we highly recommend that ESWL should be limited to less than 10 sessions.


Subject(s)
Kidney Calculi/therapy , Lithotripsy , Adult , Aged , Aged, 80 and over , Female , Follow-Up Studies , Humans , Male , Middle Aged , Multivariate Analysis , Proportional Hazards Models , Recurrence , Risk Factors , Treatment Outcome
20.
Hinyokika Kiyo ; 43(8): 567-70, 1997 Aug.
Article in Japanese | MEDLINE | ID: mdl-9310779

ABSTRACT

We report a case of Cushing's syndrome due to bilateral adrenal adenomas. A 45-year-old woman was found to have Cushing's syndrome during the course of treatment for diabetes mellitus. The diagnosis of Cushing's syndrome was based on the absence of a diurnal rhythm in plasma cortisol and failure to suppress plasma cortisol by 1 or 4 mg of dexamethasone. The plasma level of adrenocorticotropic hormone (ACTH) was below the normal range, and plasma cortisol responded normally to rapid ACTH injection. Abdominal computed tomography revealed bilateral adrenal tumors. Bilateral uptake of radiocholesterol by the adrenal cortex was observed in adrenal scintigraphy. Bilateral adrenalectomy was performed. Microscopic examination and analysis of steroid contents by high performance liquid chromatography showed that the tumor was cortisol-producting adenoma.


Subject(s)
Adenoma/complications , Adrenal Gland Neoplasms/complications , Cushing Syndrome/etiology , Neoplasms, Multiple Primary , Adenoma/pathology , Adenoma/surgery , Adrenal Gland Neoplasms/pathology , Adrenal Gland Neoplasms/surgery , Adrenocorticotropic Hormone/blood , Female , Humans , Middle Aged
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