Phenotypic diversity and correlation with the genotypes of pseudohypoaldosteronism type 1

2019 ◽  
Vol 32 (9) ◽  
pp. 959-967 ◽  
Author(s):  
Jaya Sujatha Gopal-Kothandapani ◽  
Arpan B. Doshi ◽  
Kath Smith ◽  
Martin Christian ◽  
Talat Mushtaq ◽  
...  
Keyword(s):  
Clinical Presentation ◽  
Phenotypic Diversity ◽  
Novel Mutation ◽  
British Society ◽  
Type I ◽  
Missense Mutations ◽  
Cross Sectional Survey ◽  
Marked Rise ◽  
Cross Sectional ◽  
Serum Aldosterone

Abstract Background Type I pseudohypoaldosteronism (PHA1) is a rare condition characterised by profound salt wasting, hyperkalaemia and metabolic acidosis due to renal tubular resistance to aldosterone (PHA1a) or defective sodium epithelial channels (PHA1b or systemic PHA). Our aim was to review the clinical presentation related to the genotype in patients with PHA1. Methods A questionnaire-based cross-sectional survey was undertaken through the British Society of Paediatric Endocrinology and Diabetes (BSPED) examining the clinical presentation and management of patients with genetically confirmed PHA1. We also reviewed previously reported patients where genotypic and phenotypic information were reported. Results Genetic confirmation was made in 12 patients with PHA1; four had PHA1a, including one novel mutation in NR3C2; eight had PHA1b, including three with novel mutations in SCNN1A and one novel mutation in SCNN1B. It was impossible to differentiate between types of PHA1 from early clinical presentation or the biochemical and hormonal profile. Patients presenting with missense mutations of SCNN1A and SCNN1B had a less marked rise in serum aldosterone suggesting preservation in sodium epithelial channel function. Conclusions We advocate early genetic testing in patients with presumed PHA1, given the challenges in differentiating between patients with PHA1a and PHA1b. Clinical course differs between patients with NR3C2 and SCNN1A mutations with a poorer prognosis in those with multisystem PHA. There were no obvious genotype-phenotype correlations between mutations on the same gene in our cohort and others, although a lower serum aldosterone may suggest a missense mutation in SCNN1 in patients with PHA1b.

Redeveloping Secure Psychiatric Services for Women

2005 ◽  
Vol 45 (4) ◽  
pp. 331-339 ◽  
Author(s):  
Stuart D M Thomas ◽  
Mairead Dolan ◽  
Jenny Shaw ◽  
Samantha Thomas ◽  
Graham Thornicroft ◽  
...  
Keyword(s):  
Clinical Presentation ◽  
Psychiatric Hospitals ◽  
Antisocial Behaviour ◽  
Care Needs ◽  
Cross Sectional Survey ◽  
Cross Sectional ◽  
Suitable Alternative ◽  
High Security ◽  
Risk Treatment ◽  
The Individual

Historically, a substantial proportion of women have been unduly detained in conditions of high security in England due to the lack of suitable alternative facilities. There have been no studies that have comprehensively examined the individual needs of these women in relation to their placement needs. A cross sectional survey was undertaken of the individual and placement needs of all females detained in the three high security psychiatric hospitals (HSPHs) in England on 18th October 1999. Whilst there are clearly differences in accommodation needs among the women, those requiring lower secure services are significantly less likely to have needs in relation to violence (OR 0.29, 95% CI 0.14-0.62) and drugs (OR 0.29, 95% CI 0.12-0.67) when length of stay is taken into account. They also have lower security, treatment and dependency needs than women still requiring HSPH treatment. A significant reorganisation of services is required. There is a need to gain further understanding of the relationships between traumatic histories, clinical presentation and antisocial behaviour and how these impact on assessed risk, treatment and care needs and outcome. The special needs of these women should be considered a priority when developing treatment and care packages.

scholarly journals 2020 Update to Spinal Muscular Atrophy Management in Saudi Arabia

2021 ◽  
Vol 9 ◽  
Author(s):  
Fahad A. Bashiri ◽  
Mohamad-Hani Temsah ◽  
Khalid Hundallah ◽  
Fahad Alsohime ◽  
Yazed AlRuthia
Keyword(s):  
Gene Therapy ◽  
Saudi Arabia ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Management Strategies ◽  
Annual Conference ◽  
Type I ◽  
Cross Sectional Survey ◽  
Cross Sectional ◽  
Society Annual

Novel therapeutic strategies have shown some promise in treating spinal muscular atrophy (SMA). However, the outcomes and acceptance of these new strategies are yet to be explored. We aimed to investigate physicians' opinions and perceptions toward management strategies of SMA across Saudi Arabia. This is a cross-sectional survey using a self-administered, structured questionnaire sent to physicians who care for SMA patients during the Saudi Pediatric Neurology Society annual conference. A total of 72 clinicians of different neurological subspecialties were included. 48.6% prescribed nusinersen to their patients, with 39% of them having patients started on nusinersen. Though, 8.3% prescribed onasemnogene abeparvovec for 1–3 patients, while none of their patients started on the treatment. 64.3% stated that the only treatment available for SMA in their settings is supportive care. Around 69.4% described having a moderate to high knowledge on SMA gene therapy, and 79.2% would recommend it. 48.6% confirmed they would prescribe gene therapy at the age of 6 months, and 78.3% would prescribe it for type-I SMA. Pediatric neurologists are receptive to novel and innovative therapies for SMA in Saudi Arabia. However, the high treatment acquisition cost, strict regulations, logistical issues, and budget constraints delay their adoption and implementation.

scholarly journals Female genital mutilation in children presenting to Australian paediatricians

2017 ◽  
Vol 102 (6) ◽  
pp. 509-515 ◽  
Author(s):  
Yvonne Zurynski ◽  
Amy Phu ◽  
Premala Sureshkumar ◽  
Sarah Cherian ◽  
Marie Deverell ◽  
...  
Keyword(s):  
Child Health ◽  
Child Protection ◽  
Female Genital Mutilation ◽  
Cultural Awareness ◽  
Cultural Practice ◽  
Type I ◽  
Cross Sectional Survey ◽  
Cross Sectional ◽  
Genital Mutilation ◽  
Female Genital

ObjectiveThe WHO reports that female genital mutilation/cutting (FGM/C) is an ancient cultural practice prevalent in many countries. FGM/C has been reported among women resident in Australia. Our paper provides the first description of FGM/C in Australian children.DesignCross-sectional survey conducted in April–June 2014.SettingPaediatricians and other child health specialists recruited through the Australian Paediatric Surveillance Unit were asked to report children aged <18 years with FGM/C seen in the last 5 years, and to provide data for demographics, FGM/C type, complications and referral for each case.ParticipantsOf 1311 eligible paediatricians/child health specialists, 1003 (76.5%) responded.ResultsTwenty-three (2.3%) respondents had seen 59 children with FGM/C and provided detailed data for 31. Most (89.7%) were identified during refugee screening and were born in Africa. Three (10.3%) were born in Australia: two had FGM/C in Australia and one in Indonesia. All parents were born overseas, mainly Africa (98.1%). Ten children had WHO FGM/C type I, five type II, five type III and six type IV. Complications in eight children included recurrent genitourinary infections, menstrual, sexual, fertility and psychological problems. Nineteen children (82.6%) were referred to obstetrics/gynaecology: 16 (69.9%) to social work and 13 (56.5%) to child protection.ConclusionsThis study confirms that FGM/C is seen in paediatric clinical practice within Australia. Paediatricians need cultural awareness, education and resources to help them identify children with FGM/C and/or at risk of FGM/C, to enable appropriate referral and counselling of children, families and communities to assist in the prevention of this practice.

Homocysteine, folate, methylene tetrahydrofolate reductase genotype and vascular morbidity in diabetic subjects

2002 ◽  
Vol 102 (6) ◽  
pp. 631-637 ◽  
Author(s):  
Joey M. KAYE ◽  
Kim G. STANTON ◽  
Vincent J. MCCANN ◽  
Samuel D. VASIKARAN ◽  
Valerie BURKE ◽  
...  
Keyword(s):  
Vascular Disease ◽  
Methylenetetrahydrofolate Reductase ◽  
Mthfr Gene ◽  
Plasma Homocysteine ◽  
Serum Folate ◽  
Type I ◽  
Cross Sectional Survey ◽  
Cross Sectional ◽  
Mthfr Genotype ◽  
Erythrocyte Folate

In the present study, the determinants of fasting plasma homocysteine in diabetic subjects were examined; whether plasma homocysteine and vascular disease are related and the influence of the C677T polymorphism in the methylenetetrahydrofolate reductase (MTHFR) gene on serum and erythrocyte folate, plasma homocysteine and vascular disease. Diabetic clinic subjects (Type I, n = 354; Type II, n = 392) were recalled for a cross-sectional survey. Standard methods were used to measure biochemical variables and to characterize vascular disease and MTHFR genotype. Plasma homocysteine was significantly and directly related to age, male sex and serum urea, and inversely related to serum folate and vitamin B12, independently in stepwise regression. When corrected for age and sex, homocysteine was significantly related to hard end points of coronary artery disease and stroke (each P<0.01), remaining significant when additionally adjusted for serum folate (P = 0.043 and P = 0.019 respectively). Serum folate was not clearly related to these events, although there was a trend to associate with the lower quintile of serum folate. The MTHFR genotype was not a determinant of plasma homocysteine, even in those in the lowest quintile of serum folate, nor of vascular disease. TT homozygosity at residue 677 was associated with elevation of total erythrocyte folate compared with both other genotypes (P<0.0001), almost certainly due to the diversion of 5,10-methylenetetrahydrofolate into derivates subsequent to the partial metabolic block that results from the MTHFR enzyme defect. In conclusion, in this clinic cohort of people with diabetes, vascular disease is related to plasma homocysteine, which is correlated with serum folate. The MTHFR genotype does not significantly influence either plasma homocysteine or vascular disease, despite it being a determinant of erythrocyte folate, which reflects its effect on folate metabolism.

scholarly journals Clinical profiling of patients with Acid Peptic Disorders (APD) in India: a cross-sectional survey of clinicians

2016 ◽  
Vol 6 (1) ◽  
pp. 194 ◽  
Author(s):  
Ramesh Roop Rai ◽  
A. Gangadhar ◽  
Mayur M. Mayabhate
Keyword(s):  
Peptic Ulcer ◽  
Clinical Presentation ◽  
Clinical Symptoms ◽  
Epigastric Pain ◽  
Ph Monitoring ◽  
Common Symptom ◽  
Cross Sectional Survey ◽  
Cross Sectional ◽  
Ulcer Disease ◽  
Presenting Symptoms

Background: Acid peptic disorders (APD) which include GERD and peptic ulcer disease (PUD) are common conditions reported in daily clinical practice. This survey aimed to understand the epidemiology, clinical presentation and associated overlapping comorbidities in Indian patients with APD.Methods: This was an interview based cross-sectional survey of 1000 clinicians (specialist gastroenterologists and non-specialists) across India who treated patients of APD in their practice. Information related to patient demographics, diagnosis and clinical presentation (common symptoms and their duration, alarming, lower GI and extra-esophageal symptoms) were assessed. Indications for upper GI endoscopy, esophageal pH monitoring and esophageal manometry were also collected. Descriptive analyses were done.Results: About 39.2% and 37.1% patients had reported GERD and PUD respectively (duodenal ulcer: 10.5%, gastric ulcer: 9.9% and peptic ulcer-non-specified: 16.7%); 25.2% patients were reported to have non-ulcer dyspepsia. Heartburn was the most common symptom in GERD (60.5%); epigastric pain was common in PUD (72.3%); 49% GERD patients presented with alarming symptoms, mainly dysphagia (67%), whereas for PUD, GI bleeding was the most common alarming symptom (47.6%). Profiles of patients visiting clinicians were similar with respect to the presenting symptoms and associated conditions. Functional dyspepsia (25.9%), constipation (23.4%) and irritable bowel syndrome (23.4%) were the most common overlapping conditions associated with both GERD and PUD.Conclusions: APD (GERD and PUD) was more common in 18-59 yrs. age group with heart burn as the common symptom for GERD and epigastric pain for PUD. Diagnosis was mostly based on clinical symptoms; nearly 50% patients of APD presenting with alarming symptoms needed prompt endoscopy. Thus, there is need to focus on these overlapping disorders while managing patients of APD.

scholarly journals Awareness of Endometriosis Symptoms—A Cross Sectional Survey among Polish Women

2021 ◽  
Vol 18 (18) ◽  
pp. 9919
Author(s):  
Maja Kotowska ◽  
Justyna Urbaniak ◽  
Wojciech J. Falęcki ◽  
Piotr Łazarewicz ◽  
Mateusz Masiak ◽  
...  
Keyword(s):  
Gold Standard ◽  
Clinical Presentation ◽  
Uterine Cavity ◽  
Definitive Diagnosis ◽  
Reproductive Age ◽  
Cross Sectional Survey ◽  
Cross Sectional ◽  
Non Invasive ◽  
Reproductive Age Women ◽  
Chronic Inflammatory Condition

Background: Endometriosis is a chronic inflammatory condition characterized by the presence of endometrial-like tissue outside of the uterine cavity. It affects approximately 6–12% among reproductive-age women. Laparoscopy is still the gold standard for diagnosing it. Since an average of couple of years elapses from the onset of symptoms to the definitive diagnosis, analysis of symptoms could serve as a non-invasive diagnostic tool. Methods: An anonymous survey was distributed online in November 2019. It contained 23 closed questions, which covered two areas: knowledge and awareness of endometriosis symptoms and its presence among respondents. Results: A total of 3319 women completed the survey, of which 328 were diagnosed with endometriosis (9.9%). The symptoms of endometriosis most often indicated by the general population were infertility and dysmenorrhea. In contrast, those least frequently indicated were painful defecation and dysuria. Respondents suffering from endometriosis indicated that they often or sometimes experienced dysmenorrhea (83%, n = 273), pelvic pain not related to menstruation (72%, n = 235), dyspareunia (68%, n = 223) and painful defecation or dysuria (40%, n = 132). Conclusions: Since the search for a non-invasive diagnostic endometriosis marker has been conducted for many years without success so far, it seems that awareness of the clinical presentation and reported symptoms may help to provide earlier diagnoses.

Testing the Strain Theory of Suicide – The Moderating Role of Social Support

Crisis ◽  
2020 ◽  
Vol 41 (2) ◽  
pp. 82-88 ◽  
Author(s):  
Bob Lew ◽  
Ksenia Chistopolskaya ◽  
Yanzheng Liu ◽  
Mansor Abu Talib ◽  
Olga Mitina ◽  
...  
Keyword(s):  
Social Support ◽  
Suicidal Behavior ◽  
Online Survey ◽  
Perceived Social Support ◽  
Strain Theory ◽  
Cross Sectional Survey ◽  
Cross Sectional ◽  
Psychological Strains ◽  
Moderating Role

Abstract. Background: According to the strain theory of suicide, strains, resulting from conflicting and competing pressures in an individual's life, are hypothesized to precede suicide. But social support is an important factor that can mitigate strains and lessen their input in suicidal behavior. Aims: This study was designed to assess the moderating role of social support in the relation between strain and suicidality. Methods: A sample of 1,051 employees were recruited in Beijing, the capital of China, through an online survey. Moderation analysis was performed using SPSS PROCESS Macro. Social support was measured with the Multidimensional Scale of Perceived Social Support, and strains were assessed with the Psychological Strains Scale. Results: Psychological strains are a good predictor of suicidality, and social support, a basic need for each human being, moderates and decreases the effects of psychological strains on suicidality. Limitations: The cross-sectional survey limited the extent to which conclusions about causal relationships can be drawn. Furthermore, the results may not be generalized to the whole of China because of its diversity. Conclusion: Social support has a tendency to mitigate the effects of psychological strains on suicidality.

Fit and Congruency

2019 ◽  
Vol 18 (3) ◽  
pp. 148-156
Author(s):  
Mary Hogue ◽  
Lee Fox-Cardamone ◽  
Deborah Erdos Knapp
Keyword(s):  
Role Theory ◽  
Social Role ◽  
Gender Diversity ◽  
Job Fit ◽  
Cross Sectional Survey ◽  
Cross Sectional ◽  
Working Adults ◽  
Role Congruity ◽  
Self Selection ◽  
Selection Of

Abstract. Applicant job pursuit intentions impact the composition of an organization’s applicant pool, thereby influencing selection outcomes. An example is the self-selection of women and men into gender-congruent jobs. Such self-selection contributes to a lack of gender diversity across a variety of occupations. We use person-job fit and the role congruity perspective of social role theory to explore job pursuit intentions. We present research from two cross-sectional survey studies (520 students, 174 working adults) indicating that at different points in their careers women and men choose to pursue gender-congruent jobs. For students, the choice was mediated by value placed on the job’s associated gender-congruent outcomes, but for working adults it was not. We offer suggestions for practitioners and researchers.

Oscillation between identities and Subjective psychological health objectives among an informed audience in therapeutic patient education

2018 ◽  
Vol 10 (1) ◽  
pp. 10202
Author(s):  
Sandrine Roussel ◽  
Alain Deccache ◽  
Mariane Frenay
Keyword(s):  
Patient Education ◽  
Psychological Health ◽  
Healthcare Professionals ◽  
Cross Sectional Survey ◽  
Chi Square ◽  
Cross Sectional ◽  
Therapeutic Patient Education ◽  
French Speaking ◽  
Health Objectives ◽  
Self Administered Questionnaire

Introduction: The implementation of Therapeutic Patient Education (TPE) remains a challenge. An exploratory study highlighted two tendencies among practitioners of TPE, which could hamper this implementation: an oscillation between identities (as caregivers versus as educators) and an inclination towards subjective psychological health objectives. Objectives: To verify whether these tendencies can be observed among an informed audience in TPE. Next, to explore the variables associated with one or other of these tendencies. Method: A quantitative cross-sectional survey by a self-administered questionnaire was carried out among 90 French-speaking healthcare professionals. Statistical analyses (chi-square, logistic regression) were then conducted. Results: Sixty percent of respondents displayed identity oscillation, which was found to be linked to task oscillation, patient curability, scepticism towards medicine and practising in France. Fifty-six percent pursued subjective psychological health objectives, which was found to be associated with health behaviour objectives and a locus of power in the healthcare relationship distinct from those seen in the pre-existing health models (biomedical, global). This tendency seems to constitute an alternative model of TPE. Discussion & conclusion: Identity oscillation and subjective psychological health objectives can be both observed. This study stresses the need to deliberate on the form(s) of TPE that is/are desired.

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