scholarly journals Evaluation Of The Parents’ Anxiety Levels Before And After The Diagnosis Of Their Child With A Rare Genetic Disease: The Necessity Of Psychological Support

2021 ◽  
Author(s):  
Ayse Betul Kolemen ◽  
Enes Akyuz ◽  
Ali Toprak ◽  
Erdem Deveci ◽  
Gozde Yesil
Keyword(s):  
Genetic Disease ◽  
Disease Risk ◽  
Genetic Disorder ◽  
Diagnostic Procedures ◽  
Psychological Support ◽  
Rare Genetic Disease ◽  
Long Duration ◽  
Genetic Test Results ◽  
Before And After ◽  
Anxiety Levels

Abstract Background The diagnosis of the rare genetic disease has great importance in treating multi-systemic conditions, preventing potential complications, and estimating disease risk for family members. The duration of getting genetic test results is variable. The demand of learning the diagnosis of a possible untreatable illness is a double-edged sword between obscurity and a lifetime chronic disease. The current uncertainty of their child's condition and the long duration time of diagnosis may increase the parents' anxiety level and causes difficulties to a continuation of diagnostic procedures in some families. This study aimed to investigate the pre-diagnosis and the post-diagnosis anxiety levels of parents who have a child with a rare genetic disorder. Results The state anxiety levels of parents decreased significantly after learning the diagnosis. However, there was no statistically significant decrease observed in trait anxiety levels. Conclusion Data from this study revealed that informing parents about their child's disease and properly explaining to them expected difficulties might help to reduce their anxiety levels. Psychological support from the hospital should be provided to help them cope with the stress before and after the diagnosis. Increasing the number of samples, interviews, and psychological inventory are recommended for future studies.

scholarly journals Evaluation of the parents’ anxiety levels before and after the diagnosis of their child with a rare genetic disease: the necessity of psychological support

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Ayse B. Kolemen ◽  
Enes Akyuz ◽  
Ali Toprak ◽  
Erdem Deveci ◽  
Gozde Yesil
Keyword(s):  
Trait Anxiety ◽  
Genetic Disease ◽  
Disease Risk ◽  
Genetic Diseases ◽  
Diagnostic Procedures ◽  
The State ◽  
Psychological Support ◽  
Rare Genetic Disease ◽  
Genetic Test Results ◽  
Anxiety Levels

Abstract Background The diagnosis of the rare genetic diseases has great importance in treating multisystemic conditions, preventing potential complications, and estimating disease risk for family members. The duration of obtaining genetic test results is varies. The demand to learn the diagnosis of a possible untreatable illness involves a struggle between uncertainty and a lifetime chronic disease. The current uncertainty of their child's condition and the long wait for a diagnosis may increase the parents' anxiety level and cause difficulties in the continuation of diagnostic procedures in some families. This study aimed to investigate the prediagnosis and postdiagnosis anxiety levels of parents who have a child with a rare genetic disease. Method The parents in this study, mothers or fathers, admitted their children to the Bezmialem Vakıf University Medical Genetics Clinic due to a suspected rare genetic disease (n = 40). Researchers created “The Sociodemographic Questionnaire” and used it to analyze the parents' sociodemographic status. In addition, they used the State-Trait Anxiety Inventory (STAI) to determine the anxiety levels of the parents. Results The state anxiety levels of parents decreased significantly after learning the diagnosis. However, there was no statistically significant decrease observed in trait anxiety levels. Conclusion Data from this study revealed that informing parents about their child's disease and properly explaining to them the expected difficulties might help to reduce their anxiety levels. Psychological support for parents is necessary to reduce their long-term stress, thus increasing the patient's compliance with treatment.

scholarly journals A VERY RARE GENETIC DISEASE LAURENCE MOON BARDET BEIDLE SYNDROME AND SUBSTANDARD PHARMACEUTICAL CARE PROVISION TO THE PATIENT AND IMPROPER THERAPY AND MONITORING; A CASE REPORT

2012 ◽  
Vol 2 ◽  
pp. 74-80
Author(s):  
Huma Aslam Butt
Keyword(s):  
Case Report ◽  
Pharmaceutical Care ◽  
Genetic Disease ◽  
Genetic Disorder ◽  
Recessive Trait ◽  
Care Provision ◽  
Bardet Biedl Syndrome ◽  
Rare Genetic Disease ◽  
Rare Genetic Disorder

The Laurence moon Bardet Biedl syndrome is a very rare genetic disorder in which the recessive trait of gene is defected and yet need to be exploited for the purpose to provide better pharmaceutical care to such patients.

EP165 Significant renal arteriovenous malformation in the context of a rare genetic disease: The Bannayan Riley Ruvalcaba syndrome

2014 ◽  
Vol 13 (5) ◽  
pp. 175
Author(s):  
A.D. Urbina Lima ◽  
A.B. Albano Del Pozo ◽  
J.J. Colombo Stenstrom ◽  
J. Murillo Mirat ◽  
A. Pijierro Amador ◽  
...  
Keyword(s):  
Arteriovenous Malformation ◽  
Genetic Disease ◽  
Rare Genetic Disease ◽  
Renal Arteriovenous Malformation

scholarly journals The Digital Girls Response to Pandemic: Impacts of in Presence and Online Extracurricular Activities on Girls Future Academic Choices

2021 ◽  
Vol 11 (11) ◽  
pp. 715
Author(s):  
Francesco Faenza ◽  
Claudia Canali ◽  
Michele Colajanni ◽  
Antonella Carbonaro
Keyword(s):  
Information And Communication Technologies ◽  
Extracurricular Activities ◽  
Gender Gap ◽  
Summer Camp ◽  
Communication Technologies ◽  
Online Mode ◽  
Long Duration ◽  
Academic Choices ◽  
Before And After ◽  
Information And Communication

In the last few years, several initiatives based on extracurricular activities have been organized in many countries around the world, with the aim to reduce the digital gender gap in STEM (Science, Technology, Engineering, Math) fields. Among them, the Digital Girls summer camp, organized every year since 2014 by two Italian universities with the aim to attract female students to ICT (Information and Communication Technologies) disciplines, represents quite a unique initiative for its characteristics of long-duration (3–4 entire weeks) and complete gratuitousness for the participants. The COVID-19 emergency imposed severe changes to such activities, that had to be modified and carried out in the online mode as a consequence of social distancing. However, on one hand, the general lack of high-quality evaluations of these initiatives hinders the possibility to understand the actual impact of extracurricular activities on the future academic choices of the participants. On the other hand, the availability of data collected over different editions of Digital Girls has allowed us to analyze the summer camp impact and to evaluate the pros and cons of in-presence and online activities. The main contribution of this paper is twofold. First, we present an overview of existing experiences, at the national (Italian) and international levels, to increase female participation in integrated STEM and ICT fields. Second, we analyze how summer camp participation can influence girls’ future academic choices, with specific attention to ICT-related disciplines. In particular, the collection of a significant amount of data through anonymous surveys conducted before and after the camp activities over the two editions allowed us to evidence the different impacts of in-presence and online extracurricular activities.

scholarly journals Postnatal persistence of sex-dependent renal developmentally programmed structural and molecular changes in nonhuman primates

2020 ◽  
Author(s):  
Andrew C. Bishop ◽  
Kimberly D. Spradling-Reeves ◽  
Robert E. Shade ◽  
Kenneth J. Lange ◽  
Shifra Birnbaum ◽  
...  
Keyword(s):  
Gene Expression ◽  
Renal Disease ◽  
Kidney Function ◽  
Nonhuman Primates ◽  
Disease Risk ◽  
Postnatal Life ◽  
Urine Metabolites ◽  
Baboon Model ◽  
Before And After ◽  
The Impact

AbstractBackgroundPoor nutrition during development programs kidney function. No studies on postnatal consequences of decreased perinatal nutrition exist in nonhuman primates (NHP) for translation to human renal disease. Our baboon model of moderate maternal nutrient restriction (MNR) produces intrauterine growth restricted (IUGR) and programs renal fetal phenotype. We hypothesized that the IUGR phenotype persists postnatally, influencing responses to a high-fat, high-carbohydrate, high-salt (HFCS) diet.MethodsPregnant baboons ate chow (Control; CON) or 70% of control intake (MNR) from 0.16 gestation through lactation. MNR offspring were IUGR at birth. At weaning, all offspring (CON and IUGR females and males, n=3/group) ate chow. At ~4.5 years of age, blood, urine, and kidney biopsies were collected before and after a 7-week HFCS diet challenge. Kidney function, unbiased kidney gene expression, and untargeted urine metabolomics were evaluated.ResultsIUGR female and male kidney transcriptome and urine metabolome differed from CON at 3.5 years, prior to HFCS. After the challenge, we observed sex-specific and fetal exposure-specific responses in urine creatinine, urine metabolites, and renal signaling pathways.ConclusionsWe previously showed mTOR signaling dysregulation in IUGR fetal kidneys. Before HFCS, gene expression analysis indicated that dysregulation persists postnatally in IUGR females. IUGR male offspring response to HFCS showed uncoordinated signaling pathway responses suggestive of proximal tubule injury. To our knowledge, this is the first study comparing CON and IUGR postnatal juvenile NHP and the impact of fetal and postnatal life caloric mismatch. Perinatal history needs to be taken into account when assessing renal disease risk.

scholarly journals Effect of Music on Blood Pressure and Heart Rate in Patients Undergoing Cataract Extraction Surgery

2021 ◽  
Vol 10 (20) ◽  
pp. 1474-1478
Author(s):  
Aditi Gadegone ◽  
Sachin Daigavane ◽  
Ruta Walavalkar
Keyword(s):  
Blood Pressure ◽  
Local Anaesthesia ◽  
Large Population ◽  
Cost Effective ◽  
Cataract Extraction ◽  
Topical Anaesthesia ◽  
Heart Rates ◽  
Prevalence Studies ◽  
Before And After ◽  
Anxiety Levels

BACKGROUND Music is an inexpensive, easily available anxiolytic known to mankind since ages. Cataract extraction surgery is one of the widely performed surgeries under local anaesthesia. India is a developing country where limited resources are spent over health infrastructure which has to cater to a large population. In our study we have tried to utilize the anxietolytic effect of music in combating the anxiety and stress patients suffer during surgery. METHODS In this prospective, interventional study, 300 patients diagnosed with senile cataract were selected. The sample size was decided taking into consideration various prevalence studies. The patients were consequently recruited for the study considering the inclusion and exclusion criteria. Patients were divided into three groups - one undergoing phacoemulsification surgery under topical anaesthesia and two groups undergoing phacoemulsification surgery under local anaesthesia by the same surgeon in a same operating room. Two groups including the one where topical anaesthesia was used were made to listen to ‘Classical Sitar Music’ whereas one group was not made to listen to music. Blood pressure and heart rates were measured before and after surgery and compared in all patients. RESULTS Blood pressure and heart rates were statistically significantly normalized (lowered) post-operatively when compared to their pre-operative values in groups which were made to listen to music. There was a marked decrease in the anxiety levels in patients who were operated under topical anaesthesia when compared to those operated under local anaesthesia. CONCLUSIONS Music can be widely used in decreasing anxiety levels in patients undergoing cataract extraction surgery thereby improving the post-operative prognosis in patients in a cost-effective way. KEY WORDS Phacoemulsification Surgery, Classical Sitar Music, Peri-Bulbar Block, Topical Anaesthesia, Anxiety, Blood Pressure, Pulse Rate

scholarly journals Decreased otolith-mediated vestibular response in 25 astronauts induced by long-duration spaceflight

2016 ◽  
Vol 115 (6) ◽  
pp. 3045-3051 ◽  
Author(s):  
Emma Hallgren ◽  
Ludmila Kornilova ◽  
Erik Fransen ◽  
Dmitrii Glukhikh ◽  
Steven T. Moore ◽  
...  
Keyword(s):  
Orthostatic Intolerance ◽  
Balance Control ◽  
Head Tilt ◽  
Otolith Organs ◽  
Negative Effects ◽  
Spatial Disorientation ◽  
Long Duration ◽  
Before And After ◽  
Ocular Counterrolling ◽  
Otolith System

The information coming from the vestibular otolith organs is important for the brain when reflexively making appropriate visual and spinal corrections to maintain balance. Symptoms related to failed balance control and navigation are commonly observed in astronauts returning from space. To investigate the effect of microgravity exposure on the otoliths, we studied the otolith-mediated responses elicited by centrifugation in a group of 25 astronauts before and after 6 mo of spaceflight. Ocular counterrolling (OCR) is an otolith-driven reflex that is sensitive to head tilt with regard to gravity and tilts of the gravito-inertial acceleration vector during centrifugation. When comparing pre- and postflight OCR, we found a statistically significant decrease of the OCR response upon return. Nine days after return, the OCR was back at preflight level, indicating a full recovery. Our large study sample allows for more general physiological conclusions about the effect of prolonged microgravity on the otolith system. A deconditioned otolith system is thought to be the cause of several of the negative effects seen in returning astronauts, such as spatial disorientation and orthostatic intolerance. This knowledge should be taken into account for future long-term space missions.

scholarly journals A novel Blind Start study design to investigate vestronidase alfa for mucopolysaccharidosis VII, an ultra-rare genetic disease

2018 ◽  
Vol 123 (4) ◽  
pp. 488-494 ◽  
Author(s):  
Paul Harmatz ◽  
Chester B. Whitley ◽  
Raymond Y. Wang ◽  
Mislen Bauer ◽  
Wenjie Song ◽  
...  
Keyword(s):  
Study Design ◽  
Genetic Disease ◽  
Rare Genetic Disease
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