scholarly journals Aggressive Behavior of Gastrointestinal Stromal Tumors (GISTs) Involving the Female Genital Tract (GYN- GIST) is Associated with TP53 Alterations

2021 ◽  
Vol 156 (Supplement_1) ◽  
pp. S55-S56
Author(s):  
N Yanchenko ◽  
A A George ◽  
E A Montgomery

Abstract Introduction/Objective Women with female reproductive system involvement by GISTs have an unfavorable outcome. We explored the possibility that the more aggressive behavior of GYN-GIST is related to a specific genetic alteration. Our objective was to study such tumors in a cohort of women in search of actionable genes for evolving targeted therapy. Methods/Case Report The pathology databases (2004-2020) of the participating institutions were searched for GIST with histologically proven GYN-GIST (study group). The control group consisted of women known to have high risk GIST without genital tract involvement. Patients for whom genetic testing of their GISTs and follow-up information were available were included in the study. Results (if a Case Study enter NA) Of 1082 patients with GIST, eight patients fulfilled the study group criteria. Primary sites for both groups were as follows: 5 small bowel, 1 colon, 1 rectum, 1 stomach. The mean follow-up period was 86 and 77 months (study and control, respectively, p=0.34). Favorable outcomes (disease free, stable disease) were seen in 2 and 5 women (study and Control, respectively). Unfavorable outcomes (death, progression on treatment) were seen in 6 and 3 women (study and control, respectively, p<0.05). All patients had initial KIT mutation (exons 11 or 9). In addition, 4 patients from the study group (of 5 tested) had alteration in TP53. One patient without TP53 alterations is disease free. None of the neoplasms from 8 patients tested in the control group had TP53 alterations; fatal outcomes in this group were related to superimposed KIT exon 17 mutation. Conclusion Alterations in TP53 (linked to the poor outcome in a host of tumors) may be related to adverse outcome in patients GYN-GIST patients and may be a potential focus as targeted therapy evolves in those patients.

2020 ◽  
Vol 10 (11) ◽  
pp. 31
Author(s):  
Esmat Sayed Abd-Almageed ◽  
Asmaa Sayed Abd-Almageed ◽  
Marwa Ali Almasry ◽  
Heba Mohamed Fahmy ◽  
Ghaydaa A. Shehata

Objective: Fall is common in patient with stroke. The aim of the study was to evaluate the effect of an educational rehabilitation program on prevention of falls after stroke.Methods: Quasi-experimental design was utilized. Setting: Neurology Department and Outpatient Clinics at Neurology, Psychiatry and Neurosurgery Hospital at Assiut University. Sample: Sixty adult patients diagnosed with stroke. Patients were equally divided into two equal groups (study and control) 30 patients each. Tools: Tool I-Patient assessment sheet. Tool II-Morse Fall Scale.Results: A statistically significant improvement of circumstances and consequences of falls and decreasing the injuries due to fall (p < .01) among the study group in comparison to the control group ones where, study group showed a decrease in the number of falling episodes (2.07 ± 0.78 vs. 5.4 ± 1.73), an improve in their ability to get up independent (83% vs. 23.3%), no need for medical attention (3.3% vs. 66.7%), and no restriction to their activities after falling (0.0% vs. 56.7%).Conclusions: The educational rehabilitation program had a statistically significant effect on the improvement of circumstances and consequences of falls and decreasing the injuries due to fall among the study group than among the control group. Recommendation: Simple illustrated educational booklets should be available for stroke patients. Replication of this study on a larger sample with extending the follow-up period to 6 months is suggested.


2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Nurullah Okumuş ◽  
Neşe Demirtürk ◽  
Rıza Aytaç Çetinkaya ◽  
Rahmet Güner ◽  
İsmail Yaşar Avcı ◽  
...  

Abstract Background and objectives An effective treatment option is not yet available for SARS-CoV2, which causes the COVID-19 pandemic and whose effects are felt more and more every day. Ivermectin is among the drugs whose effectiveness in treatment has been investigated. In this study; it was aimed to investigate the presence of gene mutations that alter ivermectin metabolism and cause toxic effects in patients with severe COVID-19 pneumonia, and to evaluate the effectiveness and safety of ivermectin use in the treatment of patients without mutation. Materials and methods Patients with severe COVID19 pneumonia were included in the study, which was planned as a prospective, randomized, controlled, single-blind phase 3 study. Two groups, the study group and the control group, took part in the study. Ivermectin 200 mcg/kg/day for 5 days in the form of a solution prepared for enteral use added to the reference treatment protocol -hydroxychloroquine + favipiravir + azithromycin- of patients included in the study group. Patients in the control group were given only reference treatment with 3 other drugs without ivermectin. The presence of mutations was investigated by performing sequence analysis in the mdr1/abcab1 gene with the Sanger method in patients included in the study group according to randomization. Patients with mutations were excluded from the study and ivermectin treatment was not continued. Patients were followed for 5 days after treatment. At the end of the treatment and follow-up period, clinical response and changes in laboratory parameters were evaluated. Results A total of 66 patients, 36 in the study group and 30 in the control group were included in the study. Mutations affecting ivermectin metabolism was detected in genetic tests of six (16.7%) patients in the study group and they were excluded from the study. At the end of the 5-day follow-up period, the rate of clinical improvement was 73.3% (22/30) in the study group and was 53.3% (16/30) in the control group (p = 0.10). At the end of the study, mortality developed in 6 patients (20%) in the study group and in 9 (30%) patients in the control group (p = 0.37). At the end of the follow-up period, the average peripheral capillary oxygen saturation (SpO2) values of the study and control groups were found to be 93.5 and 93.0%, respectively. Partial pressure of oxygen (PaO2)/FiO2 ratios were determined as 236.3 ± 85.7 and 220.8 ± 127.3 in the study and control groups, respectively. While the blood lymphocyte count was higher in the study group compared to the control group (1698 ± 1438 and 1256 ± 710, respectively) at the end of the follow-up period (p = 0.24); reduction in serum C-reactive protein (CRP), ferritin and D-dimer levels was more pronounced in the study group (p = 0.02, p = 0.005 and p = 0.03, respectively). Conclusions According to the findings obtained, ivermectin can provide an increase in clinical recovery, improvement in prognostic laboratory parameters and a decrease in mortality rates even when used in patients with severe COVID-19. Consequently, ivermectin should be considered as an alternative drug that can be used in the treatment of COVID-19 disease or as an additional option to existing protocols.


Author(s):  
Ningthemba Yumnam ◽  
Joy Singh Akoijam ◽  
Joymati Oinam

Background: Upper limbs are very important to motor functionality. However, in majority of stroke patients, arm functions are impaired resulting in disabilities and restrictions to function. Therefore, the objective of this study was to assess the effectiveness of mirror therapy in the motor recovery of upper extremity in the post stroke hemiplegic patient.Methods: A prospective randomized controlled trial was conducted among 72 post stroke patients aged 35-65 years having hemipa­resis attending the PMR OPD in RIMS, Manipur from 2013 to 2016. Assessment was done for FIM self care and Brunnstrom stages of motor recovery at baseline and 1 month and 6 month of post treatment. Both the study and control group participated in a stroke rehabilitation programme and study group was given mirror therapy in addition. Descriptive statistics such as mean, standard deviation and inferential statistics like Chi-square test, Student’s t test, and ANOVA were used. A p-value <0.05 was taken as statistically significant.Results: Mean age were 54.56±7.61 years (study) and 55.11±7.99 years (control). Majority of them were males (61.1%). Significant improvement was noted in the study group from baseline to 1 month and 6 months follow up. Mean score comparison of FIM self care between study and control group from baseline to 1 month was (28.28±3.11 to 34.11±2.59 vs 28.00±4.30 to 29.50±4.58) and from 1 to 6 months follow up was (34.11±2.59 to 37.83±2.04 vs 29.50±4.58 to 32.44±4.82) respectively.Conclusions: There was a significant improvement in hand function regarding both motor recovery and daily self care activities in the study group.


2000 ◽  
Vol 45 (4) ◽  
pp. 369-375 ◽  
Author(s):  
Sandra Fisman ◽  
Lucille Wolf ◽  
Deborah Ellison ◽  
Tom Freeman

Objective: To examine the unaffected siblings of 2 different groups with chronic disabilities, pervasive developmental disorder (PDD) and Down syndrome (DS), over 3 years, comparing their adjustment with each other and with the siblings of a nondisabled group. Method: This study examines 137 siblings of children with PDD, children with DS, and developmentally normal children (control group) initially and 127 siblings at follow-up 3 years later. Their adjustment is measured by the Survey Diagnostic Instrument (SDI), completed by caregivers and teachers. Predictor variables include sibling self-perception, social support, and relationship with sibling, as indicated by siblings; caregiver psychosocial factors such as parental stress, caregiver depression, and marital relationship; family systems characteristics as viewed by both caregiver and sibling; and difficulty that disabled child causes as perceived by the primary caregiver. Results: Significantly more adjustment problems are found in the siblings of PDD children at both times when compared with siblings of DS and control children. Caregivers of PDD children report the highest levels of distress and depression, and this persists over time. Parent distress was found, at both times, to be related to sibling adjustment problems, regardless of study group. Conclusion: These results have implications for preventive intervention for the unaffected siblings of PDD children.


2020 ◽  
Author(s):  
Jinghui Niu ◽  
Qi Qi ◽  
Kuo Hao ◽  
Wei Lin ◽  
Kang Piao ◽  
...  

Abstract Background: Although morphological improvement of femoral trochlea has been investigated in children with patella dislocation after surgery, whether the patellar shape changed under the same condition is still unknown. The purpose of the study was to investigate the changes of patella morphology in transverse plane following surgical correction of recurrent patella dislocation in children.Methods: A total of 22 patients with a mean age of 9.9 years (7 to 12) were included. All had unilateral recurrent patella dislocation. The knees with recurrent patella dislocation were treated with medial patellar retinaculum plasty and defined as the study group. The contralateral knees with no symptom of patellar instability were considered as the control group. All patients were treated between October 2014 and August 2018. Axial CT (Computed Tomography) scans were undertaken in all patients to assess the patella morphological characteristics on a particular axial image preoperatively and at the final follow-up.Results: There are not significant differences about patellar transverse diameter, thickness and Wiberg angle between study group and control group before surgery and at the last follow-up respectively ( The mean follow-up period: 28.0 ± 3.3 months). However, before surgery, the Wiberg-index in the study group (0.74 ± 0.06) is significantly different from that in the control group (0.64 ± 0.04). At the last follow-up, the Wiberg-index in the study group (0.67 ± 0.05) and the control group (0.65 ± 0.04) are not significantly different. Also, in the study group, the Wiberg-index at the last follow-up is significantly lower than that before surgery (P < 0.05). The Wiberg-index in the control group is not significantly different before surgery and at the last follow-up. Conclusion: The patella morphology can change significantly after surgical procedures in children (before epiphyseal closure) with patellar recurrent dislocation


Author(s):  
Shahina Mole.S ◽  
Anisha A

Many women are familiar with the experience of spasmodic dysmenorrhoea, one of the commonest gynaecological conditions that affects the quality of life of many in their reproductive years. This condition manifested as painful menstruation, is the most frequently encountered gynaecological complaint and it can be included under Udavartha yonivyapat, caused by Apana vata vaigunya described in Ayurvedic classics. As the condition has significant effect on quality of life, personal health, and working hours and there are several limitations and adverse effects in modern medicine, its Ayurvedic management is of great importance. Randomized clinical study was conducted in Govt. Ayurveda College Hospital for Women and Children, Poojappura to evaluate the effectiveness of Rasna swadamstraadi ksheerapaaka in spasmodic dysmenorrhoea and to compare its result with that of Sukumaram kashayam. Total 30 patients between the age group 15-35 yrs were taken in to the study who had complaints of severe or moderate lower abdominal pain and associated complaints such as low back ache, nausea, vomiting, diarrhoea, and allocated them into two groups. Study group were treated with Rasna swadamstraadi ksheerapaaka and control group with Sukumaram kashayam. Administration of drug started10 days before menstruation and continued till 4th day of menstruation for 3 consecutive cycles for study group and control group. Follow up without medicine was done for next 3 consecutive cycles for both the groups. Results were analyzed and compared statistically. The research drug Rasna swadamstraadi ksheerapaaka had shown effectiveness in controlling pain in spasmodic dysmenorrhoea and associated symptoms like low back ache and nausea, but in the case of vomiting, and diarrhoea it showed less sustained action in follow up period. The control drug Sukumaram kashayam had also shown effectiveness in controlling pain in spasmodic dysmenorrhoea and associated complaints nausea and low back ache. But in the case of vomiting, and diarrhoea this medicine also showed less sustained action in follow up period. On conclusion the study revealed that the research drug Rasna swadamstraadi ksheerapaaka and control drug Sukumaram kashayam are equally effective in treating spasmodic dysmenorrhoea, without any side effects.


2021 ◽  
Author(s):  
Nurullah Okumuş ◽  
Nese Demirtürk ◽  
Rıza Aytaç ÇETİNKAYA ◽  
Rahmet GÜNER ◽  
İsmail Yaşar Avcı ◽  
...  

Abstract BACKGROUND AND OBJECTIVES:An effective treatment option is not yet available for SARS-CoV2, which causes the COVID-19 pandemic and whose effects are felt more and more every day. Ivermectin is among the drugs whose effectiveness in treatment has been investigated. In this study; it was aimed to investigate the presence of gene mutations that alter ivermectin metabolism and cause toxic effects in patients with severe COVID-19 pneumonia, and to evaluate the effectiveness and safety of ivermectin use in the treatment of patients without mutation.MATERIALS AND METHODS: Patients with severe COVID19 pneumonia were included in the study, which was planned as a prospective, randomized, controlled, single-blind phase 3 study. Two groups, the study group and the control group, took part in the study. Ivermectin 200 mcg/kg/day for five days in the form of a solution prepared for enteral use added to the reference treatment protocol -hydroxychloroquine + favipiravir + azithromycin- of patients included in the study group. Patients in the control group were given only reference treatment with 3 other drugs without ivermectin. The presence of mutations was investigated by performing sequence analysis in the mdr1/abcab1 gene with the Sanger method in patients included in the study group according to randomization. Patients with mutations were excluded from the study and ivermectin treatment was not continued. Patients were followed for 5 days after treatment. At the end of the treatment and follow-up period, clinical response and changes in laboratory parameters were evaluated.RESULTS: A total of 66 patients, 36 in the study group and 30 in the control group were included in the study. Mutations affecting ivermectin metabolism was detected in genetic tests of six (16.7%) patients in the study group and they were excluded from the study. At the end of the 5-day follow-up period, the clinical improvement rate was higher in the study group [22/30 (73.3%)] compared to the control group [16/30 (53.3%)] (p=0.10). At the end of the study, mortality developed in 6 patients (20%) in the study group and in 9 (30%) patients in the control group (p=0.37). At the end of the follow-up period, the average peripheral capillary oxygen saturation (SpO2) values of the study and control groups were found to be 93.5% and 93.0%, respectively. Partial pressure of oxygen (PaO2)/FiO2 ratios were determined as 236.3 ± 85.7 and 220.8 ± 127.3 in the study and control groups, respectively. While the blood lymphocyte count was higher in the study group compared to the control group (1698±1438 and 1256±710, respectively) at the end of the follow-up period (p=0.24); reduction in serum C-reactive protein (CRP), ferritin and D-dimer levels was more pronounced in the study group (p=0.02, p=0.005 and p=0.03, respectively).CONCLUSIONS: According to the findings obtained, ivermectin can provide an increase in clinical recovery, improvement in prognostic laboratory parameters and a decrease in mortality rates even when used in patients with severe COVID-19. Consequently, ivermectin should be considered as an important alternative to the treatment of COVID-19 disease or as an additional option to existing protocols.


2018 ◽  
Vol 103 (3) ◽  
pp. 385-389 ◽  
Author(s):  
Antonio García-Ben ◽  
Ignacio Garcia-Basterra ◽  
Ana González-Gómez ◽  
Isabel Baquero-Aranda ◽  
María José Morillo-Sanchez ◽  
...  

BackgroundTo compare the long-term clinical evolution of highly myopic eyes with vertical oval-shaped dome associated with or without untreated serous retinal detachment.MethodsTwenty-eight patients with high myopia (40 eyes) with smooth macular elevations related to a vertical oval-shaped dome were recruited. Serous retinal detachment was investigated; 11 eyes had persistent submacular fluid (study group) and 29 eyes lacked submacular fluid (control group). All patients underwent complete ophthalmological examinations, including optical coherence tomography at baseline every 6 months for 2 years. Fluorescein angiographies were performed in cases with serous retinal detachment to rule out choroidal neovascularisation.ResultsThere were no statistical differences in baseline age, sex, spherical equivalence or axial length between the two groups. Serous retinal detachment always occurred at the top of the inward macular incurvation. Moreover, no statistically significant differences in mean best-corrected visual acuity were observed during the 24-month follow-up period in the study and control groups and between the two groups at all time points. The mean central foveal thickness was significantly higher in the study group at each visit (p=0.001, in all cases). At the final follow-up visit, complete resolution of the serous retinal detachment was achieved in 1 of the 11 study group’s eyes.ConclusionsSerous retinal detachment is a complication associated with vertical oval-shaped domes that seems to remain stable in terms of visual function over time without treatment.


2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Michał Waszczykowski ◽  
Bożena Dziankowska-Bartkowiak ◽  
Michał Podgórski ◽  
Jarosław Fabiś ◽  
Arleta Waszczykowska

AbstractThe aim of this study was to estimate the long-term results of complex and supervised rehabilitation of the hands in systemic sclerosis (SSc) patients. Fifty-one patients were enrolled in this study: 27 patients (study group) were treated with a 4-week complex, supervised rehabilitation protocol. The control group of 24 patients was prescribed a home exercise program alone. Both groups were evaluated at baseline and after 1-, 3-, 6-, and 12-months of follow-up with the Disability of the Arm, Shoulder and Hand Questionnaire (DAHS) as the primary outcome, pain (VAS—visual analog scale), Cochin Hand Function Scale (CHFS), Health Assessment Questionnaire Disability Index (HAQ-DI), Scleroderma-HAQ (SHAQ), range of motion (d-FTP—delta finger to palm, Kapandji finger opposition test) and hand grip and pinch as the secondary outcomes. Only the study group showed significant improvements in the DASH, VAS, CHFS and SHAQ after 1, 3 and 6 months of follow-up (P = 0.0001). Additionally, moderate correlations between the DASH, CHFS and SHAQ (R = 0.7203; R = 0.6788; P = 0.0001) were found. Complex, supervised rehabilitation improves hand and overall function in SSc patients up to 6 months after the treatment but not in the long term. The regular repetition of this rehabilitation program should be recommended every 3–6 months to maintain better hand and overall function.


Author(s):  
Catarina Reis-de-Carvalho ◽  
Carolina Vaz-de-Macedo ◽  
Santiago Ortiz ◽  
Anabela Colaço ◽  
Carlos Calhaz-Jorge

Abstract Introduction Malignant mesonephric tumors are uncommon in the female genital tract, and they are usually located where embryonic remnants of Wolffian ducts are detected, such as the uterine cervix. The information about these tumors, their treatment protocol, and prognosis are scarce. Case report A 60-year-old woman with postmenopausal vaginal bleeding was initially diagnosed with endometrial carcinoma. After suspicion co-testing, the patient underwent a loop electrosurgical excision of the cervix and was eventually diagnosed with mesonephric adenocarcinoma. She was subjected to a radical hysterectomy, which revealed International Federation of Gynecology and Obstetrics (FIGO) IB1 stage, and adjuvant radiotherapy. The follow-up showed no evidence of recurrence after 60 months. Conclusion We present the case of a woman with cervical mesonephric adenocarcinoma. When compared with the literature, this case had the longest clinical follow-up without evidence of recurrence, which reinforces the concept that these tumors are associated with a favorable prognosis if managed according to the guidelines defined for the treatment of patients with cervical adenocarcinomas. Though a rare entity, it should be kept in mind as a differential diagnosis for other cervical cancers.


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