• Journal of mucopolysaccharidosis and rare diseases
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• 제1권2호
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• pp.40-43
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• 2015

Prader-Willi syndrome (PWS), a complex genetic disorder, arises from suppressed expression of paternally inherited imprinted genes on chromosome 15q11-q13. Characteristics include short stature, intellectual disability, behavioral problems, hypogonadism, obesity, and reduced bone and muscle. The life expectancy of persons with PWS has increased in recent years. Cardiovascular diseases, diabetes, dermatological, and orthopedic problems are common physical complaints in older people with PWS. Behavioral problems are major concerns in adults with PWS into old age. And aging is also associated with significant social and economic changes. Age-related physical morbidity, physical appearance, behavioral and psychiatric problems, functional decline and economic problems can be combined in older PWS. The care for older people with PWS requires a life span approach that recognizes the presence, progression, and consequences of specific morbidity.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• 제35권1호
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• pp.8-14
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• 2024

Autism spectrum disorder (ASD) is a heterogeneous developmental disorder characterized by impairments in two core areas: 1) social communication and interaction and 2) restricted and repetitive patterns of behaviors and interests. In general, ASD is known to be a lifelong disorder. Follow-up studies from childhood to adulthood have reported that the severity of the key symptoms ASD decreases over time. However, chronic health problems including mental health occur in many patients with ASD. The prevalence of ASD has increased from around 0.04% in the 1970s to 2.8% at present. The average age of diagnosis in developed countries is 38-120 months of age. Recent evidence suggests that biological factors which include genetic, congenital, immunological, neuroanatomical, biochemical, and environmental ones are important in causing autism. Until now, early signs and various risk factors of ASD have been suggested.

• Asian Pacific Journal of Cancer Prevention
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• 제16권12호
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• pp.4873-4880
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• 2015

Purpose: To describe the clinicopathological features of gastrointestinal stromal tumors (GIST) diagnosed in our section and to perform risk stratification of our cases by assigning them to specific risk categories and groups for disease progression based on proposals by Fletcher et al and Miettinen and Lasota. Materials and Results: We retrieved 255 cases of GIST diagnosed between 2003 and 2014. Over 59% were male. The age range was 16 to 83 years with a mean of 51 years. Over 70% occurred between 40 and 70 years of age. Average diameter of tumors was 10 cms. The stomach was the most common site accounting for about 40%. EGISTs constituted about 16%. On histologic examination, spindle cell morphology was seen in almost of 85% cases. CD117 was the most useful immunohistochemical antibody, positive in 98%. Risk stratification was possible for 220 cases. Based on Fletcher's consensus proposal, 62.3 gastric, 81.8% duodenal, 68% small intestinal, 72% colorectal and 89% EGISTs were assigned to the high risk category; while based on Miettinen and Lasota's algorithm, about 48% gastric, 100% duodenal, 76% small intestinal, 100% colorectal and 100% EGISTs in our study were associated with high risk for disease progression, tumor metastasis and tumor related death. Follow up was available in 95 patients; 26 were dead and 69 alive at follow up. Most of the patients who died had high risk disease and on average death occurred just a few months to a maximum of one to two years after initial surgical resection. Conclusions: Epidemiological and morphologic findings in our study were similar to international published data. The majority of cases in our study belonged to the high risk category.

• Asian Pacific Journal of Cancer Prevention
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• 제15권15호
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• pp.6425-6428
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• 2014

Background: Prostatic adenocarcinoma is one of the main causes of cancer death, and its timely diagnosis and preventing its progression dramatically helps improve life indexes. Given the high disease recurrence rate, today, research is more inclined toward exploring causes of recurrence and development, and innovation of modern treatment methods. Several studies have explored over-expression of human epidermal growth factor receptor 2 (HER-2/neu) in prostatic cancer so far, with different results. Thus, it was decided to investigate HER-2/neu overexpression in patients with prostatic adenocarcinoma in Iran. Materials and Methods: A sample size of 40 patients with prostate cancer entered the study, using a cross-sectional, non-randomized sampling method. Parameters studied included patient age at surgery, Gleason score, serum prostatic specific antigen (PSA) before surgery, and positive sample rate after immunohistochemical staining to investigate HER-2/neu overexpression. Results: In terms of HER-2/neu receptor staining rate, of 40 slides, 16 (40%) scored 0, 13 (32.5%) 1+, 7 (17.5%) 2+, and 4 (10%) 3+. In total 27.5% of slides showed HER-2/neu overexpression. In terms of age, an inverse correlation was found (-0.181), but without significance (p=0.263). In terms of serum PSA, the correlation coefficient was 0.449 (p=0.004). With respect to Gleason score, the coefficient was 0.190 (p=0.240). Conclusions: In this study, HER-2/neu overexpression occurred in 27.5% of prostate cancer cases, which is a relatively high figure, compared to similar studies elsewhere. While, we failed to reveal any relationship between HER-2/neu expression status with progression and prognosis of disease, it was demonstrated that the serum PSA level was significantly higher in cases with increased receptor expression.

• Journal of Korean Neurosurgical Society
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• 제52권6호
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• pp.517-522
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• 2012

Objective : Meningiomas represent 18-20% of all intracranial tumors and have a 20-50% 10-year recurrence rate, despite aggressive surgery and irradiation. Hydroxyurea, an inhibitor of ribonucleotide reductase, is known to inhibit meningioma cells by induction of apoptosis. We report the long-term follow-up result of hydroxyurea therapy in the patients with recurrent meningiomas. Methods : Thirteen patients with recurrent WHO grade I or II meningioma were treated with hydroxyurea (1000 $mg/m^2/day$ orally divided twice per day) from June 1998 to February 2012. Nine female and 4 male, ranging in age from 32 to 83 years (median age 61.7 years), were included. Follow-up assessment included physical examination, computed tomography, and magnetic resonance imaging (MRI). Standard neuro-oncological response criteria (Macdonald criteria) were used to evaluate the follow-up MRI scans. The treatment was continued until there was objective disease progression or onset of unmanageable toxicity. Results : Ten of the 13 patients (76.9%) showed stable disease after treatment, with time to progression ranging from 8 to 128 months (median 72.4 months; 6 patients still accruing time). However, there was no complete response or partial response in any patients. Three patients had progressive disease after 88, 89, 36 months, respectively. There was no severe (Grade III-IV) blood systemic disorders and no episodes of non-hematological side effects. Conclusion : This study showed that hydroxyurea is a modestly active agent against recurrent meningiomas and can induce long-term stabilization of disease in some patients. We think that hydroxyurea treatment is well tolerated and convenient, and could be considered as an alternative treatment option in patients with recurrent meningiomas prior to reoperation or radiotherapy.

• Journal of Korean Neurosurgical Society
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• 제54권3호
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• pp.211-219
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• 2013

Objective : The objectives of the present study were to characterize the natural course of initially non-operated traumatic acute subdural hematoma (ASDH) and to identify the risk factors of hematoma progression. Methods : Retrospective analysis was performed using sequential computed tomography (CT) images maintained in a prospective observational database containing 177 ASDH cases treated from 2005 to 2011. Patients were allocated to four groups as followings; 136 (76.8%) patients to the spontaneous resolution group, 12 (6.8%) who underwent operation between 4 hours and 7 days to the rapid worsening group (RWG), 24 (13.6%) who experienced an increase of hematoma and that underwent operation between 7 and 28 days to the subacute worsening group (SWG), and 5 (2.8%) who developed delayed aggravation requiring surgery from one month after onset to the delayed worsening group (DWG). Groups were compared with respect to various factors. Results : No significant intergroup difference was found with respect to age, mechanism of injury, or initial Glasgow Coma Scale. The presence of combined cerebral contusion or subarachnoid hemorrhage was found to be a significant prognostic factor. Regarding CT findings, mixed density was common in the RWG and the SWG. Midline shifting, hematoma thickness, and numbers of CT slices containing hematoma were significant prognostic factors of the RWG and the SWG. Brain atrophy was more severe in the SWG and the DWG. Conclusion : A large proportion of initially non-operated ASDHs worsen in the acute or subacute phase. Patients with risk factors should be monitored carefully for progression by repeat CT imaging.

• Asian Pacific Journal of Cancer Prevention
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• 제17권2호
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• pp.771-774
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• 2016

Thymic tumors are the most common tumors in the anterior mediastinum. Total resection is the main treatment and predictor of longer survival. Adjuvant radiotherapy alone or in combination with chemotherapy is recommended with incomplete excision or advanced disease. Thirty seven patients with thymic tumors were included in this retrospective study from January 2001 till December 2012. They were studied regarding age, sex, performance status, tumor size and invasion, stage, pathology, treatment given, overall and progression free survival. Myasthenia gravis was present in 18.1% of the patients. Masaoka stage III was diagnosed in 40.5% of the cases followed by stage II in 24.3% and the other stages with lower percentages. Pathology type B3 was the most frequent followed by B2 and B1 with percentages of 27, 24.3 and 21.7 respectively. Complete resection was conducted in 11 cases (29.75%). Partial resection or debulking was done in 15 (40.5%) and a biopsy was taken in 11 cases (29.8%) Adjuvant chemotherapy was given to 14 patients (37.8%) and neoadjuvant to 13 (35.2%). Adjuvant radiotherapy was given to 17 patients (46%) and neoadjuvant to 14 (37.8%). The 5-year overall survival by was 83% for stage I, 71% for stage II, 60% for stage III, and 44% for stage IV (p=0.0426). Five year progression free survival was 71% for stage I, 62% stage II, 42% stage III, and 37% for stage IV (p=0.0532). In conclusion with the rare thymic tumors early stage and complete resection have the highest impact on overall and progression free survival.

• Asian Pacific Journal of Cancer Prevention
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• 제15권10호
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• pp.4233-4238
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• 2014

Background: The aim of this study was to investigate the relationship of body mass index with overall and progression-free survival as well as other prognostic factors of breast cancer in patients with non-metastatic breast cancer. Materials and Methods: We retrospectively reviewed 456 patients diagnosed with breast cancer in the Radiation Oncology department of Kayseri Teaching Hospital between 2005 and 2013. We investigated relationship of body mass index with prognosis and other prognostic factors. Results: The study included 456 patients (447 women and 9 men). Mean age at presentation was 55.6 years. Of the cases, 96.9% underwent modified radical mastectomy and 95.0% received chemotherapy, while 82.4% received radiotherapy and 60.0% were given hormone therapy. Body mass index was >25 mg/kg2 in 343 cases. Five- and 10-years overall survival rates were 77% and 58% whereas progression-free survival rates were 65% and 49%, respectively. In univariate analyses, factors including stage (p=0.046), tumor diameter (p=0.001), lymph node metastasis (p=0.006) and body mass index (p=0.030) were found to be significantly associated with overall survival, while perinodal involvement was found to be significantly associated with progression-free survival (p=0.018). In multivariate analysis, stage (p=0.032; OR: 3.8; 95% CI: 1.1-13), tumor diameter (p<0.000; OR: 0.0; 95% CI: 0.0-0.3), lymph node metastasis (p=0.005; OR: 0.0; 95% CI: 0.0-0.5) and BMI (p=0.027; OR: 0.02; 95% CI: 0.0-0.8) remained as significantly associated with OS. Conclusions: In our study, it was seen that overall survival time was shorter in underweight and obese patients when compared to normal weight patients.

• Asian Pacific Journal of Cancer Prevention
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• 제13권7호
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• pp.3437-3441
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• 2012

Background: Oncogenic Bmi-1 (B-lymphoma Moloney murine leukemia virus insertion region-1) belongs to the Polycomb-group (PcG) family of proteins and plays an important role in the regulation of proliferation, senescence, cell cycle and apoptosis, chromosome stability, activation of gene transcription. Methods: To clarify the roles of Bmi-1 in tumourigenesis and progression of gastric carcinomas, it was examined by immunohistochemistry (IHC) and real-time RT-PCR in gastric carcinomas, dysplasia, intestinal metaplasia (IM), and gastritis with a comparison of its expression with clinicopathological parameters of carcinomas. Results: There was gradually increased Bmi-1 protein expression from gastritis, IM, dyplasia to carcinoma (p<0.001). Bmi-1 expression was positively linked to tumor size, depth of invasion, lymph node metastasis and worse prognosis of carcinomas (p<0.001), but not to age or sex of carcinoma patients (p>0.05). There was higher Bmi-1 protein expression in intestinal-type carcinomas than diffuse-type ones (p<0.001). At mRNA level, Bmi-1 protein expression was increased from gastritis, IM, dysplasia and carcinoma (p<0.001). Bmi-1 overexpression was observed in gastric carcinoma with larger diameter, deeper invasion, lymph node metastasis, and intestinal-type carcinoma (p<0.05). Conclusion: These findings indicate that up-regulated Bmi-1 expression is positively linked to pathogenesis, growth, invasion, metastasis and differentiation of gastric carcinomas. It was considered as a promising marker to indicate the aggressive behaviors and prognosis of gastric carcinomas.

• Asian Pacific Journal of Cancer Prevention
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• 제15권20호
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• pp.8987-8992
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• 2014

Background: The efficacy of concurrent chemoradiotherapy in the treatment of locally advanced cervical cancer is well established. We aimed to investigate the long-term efficacy of definitive concurrent chemoradiotherapy for cervical cancer in the University of Malaya Medical Centre. Materials and Methods: A cohort of 60 patients with FIGO stage IB2-IVA cervical cancer who were treated with definitive concurrent chemoradiotherapy with cisplatin followed by intracavitary brachytherapy or external beam radiotherapy (EBRT) boost between November 2001 and May 2008 were analysed. Patients were initially treated with weekly intravenous cisplatin ($40mg/m^2$) concurrent with daily EBRT to pelvis of 45-50Gy followed by low dose rate brachytherapy or EBRT boost to tumour. Local control rate, progression free survival, overall survival and treatment related toxicities graded by the RTOG criteria were evaluated. Results: The mean age was 56. At the median follow-up of 72 months, the estimated 5-year progression-free survival (PFS) (median PFS 39 months) and the 5-year overall survival (OS) (median OS 51 months) were 48% and 50% respectively. The 5-year local control rate was 67.3%. Grade 3-4 late gastrointestinal and genitourinary toxicity occurred in 9.3% of patients. Conclusions: The 5-year PFS and the 5-year OS in this cohort were lower than in other institutions. More advanced stage at presentation, longer overall treatment time (OTT) of more than fifty-six days and lower total dose to point A were the potential factors contributing to a lower survival.