Three Cases of Joubert Syndrome in a Consanguineous Syrian Family and a Interesting Case of Multinational Collaboration

2021 ◽  
Author(s):  
Davor Petrović ◽  
Vida Čulić ◽  
Zofia Swinderek-Alsayed
Keyword(s):  
Low Income ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Joubert Syndrome ◽  
Interesting Case ◽  
Low Income Countries ◽  
Ocular Motor ◽  
Quality Health Care ◽  
Quality Health ◽  
Motor Apraxia

AbstractJoubert syndrome (JS) is a rare congenital, autosomal recessive disorder characterized by a distinctive brain malformation, developmental delay, ocular motor apraxia, breathing abnormalities, and high clinical and genetic heterogeneity. We are reporting three siblings with JS from consanguineous parents in Syria. Two of them had the same homozygous c.2172delA (p.Trp725Glyfs*) AHI1 mutation and the third was diagnosed prenatally with magnetic resonance imaging. This pathogenic variant is very rare and described in only a few cases in the literature. Multinational collaboration could be of benefit for the patients from undeveloped, low-income countries that have a low-quality health care system, especially for the diagnosis of rare diseases.

Epidemiology and course of intellectual disabilities

2020 ◽  
pp. 216-222
Author(s):  
Sally-Ann Cooper
Keyword(s):  
Health Care ◽  
Intellectual Disabilities ◽  
Low Income ◽  
Age Groups ◽  
Low Income Countries ◽  
Quality Health Care ◽  
Physical Health Problems ◽  
Quality Health ◽  
People With Intellectual Disabilities ◽  
Improving Health Care

In high-income countries, about 5/1000 adults have intellectual disabilities. Population prevalence of intellectual disabilities is higher in children/young persons than adults, and prevalence decreases in older age groups to about 2/1000 over the age of 65. Intellectual disabilities are more common in boys/men, and in low-income countries; prevalence varies with geography and over time. Mental ill health is more common in people with intellectual disabilities than in the general population, with a point prevalence of 41% in adults and 36% in children/young people. Physical health problems and disabilities are common, and multi-morbidity and polypharmacy typical in people with intellectual disabilities; hence, clinical assessment and management are complex. The lifespan of people with intellectual disabilities is currently about 20 years less than that of other people, and more than 37% of their deaths are preventable deaths amenable to high-quality health care. Improving health care for people with intellectual disabilities needs to become a priority for clinicians, service commissioners, and policymakers.

How Low-Income Mothers Seek Quality Health Care for Their Children: An Ethnographic Study

2012 ◽  
Author(s):  
Marquia Blackmon ◽  
Sherry C. Eaton ◽  
Linda M. Burton ◽  
Whitney Welsh ◽  
Dwayne Brandon ◽  
...  
Keyword(s):  
Health Care ◽  
Low Income ◽  
Ethnographic Study ◽  
Quality Health Care ◽  
Quality Health ◽  
Low Income Mothers

Immigration and Contract Problems Experienced by Foreign-Educated Nurses

2012 ◽  
Vol 69 (3) ◽  
pp. 351-365 ◽  
Author(s):  
Patricia Pittman ◽  
Carolina Herrera ◽  
Joanne Spetz ◽  
Catherine R. Davis
Keyword(s):  
United States ◽  
Health Care ◽  
Low Income ◽  
The United States ◽  
Low Income Countries ◽  
Labor Rights ◽  
Care Practice ◽  
Quality Health Care ◽  
International Recruitment ◽  
The Impact

More than 8% of employed RNs licensed since 2004 in the United States were educated overseas, yet little is known about the conditions of their recruitment or the impact of that experience on health care practice. This study assessed whether the labor rights of foreign-educated nurses were at risk during the latest period of high international recruitment: 2003 to 2007. Using consensus-based standards contained in the Voluntary Code of Ethical Conduct for the Recruitment of Foreign-Educated Health Professionals to the United States, this study found 50% of actively recruited foreign-educated nurses experienced a negative recruitment practice. The study also found that nurses educated in low-income countries and nurses with high contract breach fees, were significantly more likely to report such problems. If, as experts believe may occur, the nursing shortage in the United States returns around 2014, oversight of international recruitment will become critically important to delivering high-quality health care to Americans.

scholarly journals Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia

2020 ◽  
Author(s):  
Simone Schröder ◽  
Yun Li ◽  
Gökhan Yigit ◽  
Janine Altmüller ◽  
Ingrid Bader ◽  
...  
Keyword(s):  
De Novo ◽  
Joubert Syndrome ◽  
Negative Regulator ◽  
Ocular Motor ◽  
Functional Studies ◽  
Diagnostic Characteristics ◽  
Hh Signaling ◽  
Motor Apraxia ◽  
Congenital Ocular Motor Apraxia ◽  
Signaling Activity

Abstract Purpose This study aimed to delineate the genetic basis of congenital ocular motor apraxia (COMA) in patients not otherwise classifiable. Methods We compiled clinical and neuroimaging data of individuals from six unrelated families with distinct clinical features of COMA who do not share common diagnostic characteristics of Joubert syndrome or other known genetic conditions associated with COMA. We used exome sequencing to identify pathogenic variants and functional studies in patient-derived fibroblasts. Results In 15 individuals, we detected familial as well as de novo heterozygous truncating causative variants in the Suppressor of Fused (SUFU) gene, a negative regulator of the Hedgehog (HH) signaling pathway. Functional studies showed no differences in cilia occurrence, morphology, or localization of ciliary proteins, such as smoothened. However, analysis of expression of HH signaling target genes detected a significant increase in the general signaling activity in COMA patient–derived fibroblasts compared with control cells. We observed higher basal HH signaling activity resulting in increased basal expression levels of GLI1, GLI2, GLI3, and Patched1. Neuroimaging revealed subtle cerebellar changes, but no full-blown molar tooth sign. Conclusion Taken together, our data imply that the clinical phenotype associated with heterozygous truncating germline variants in SUFU is a forme fruste of Joubert syndrome.

scholarly journals Identification of two novel pathogenic variants of PIBF1 by whole exome sequencing in a 2-year-old boy with Joubert syndrome

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Yue Shen ◽  
Hao Wang ◽  
Zhimin Liu ◽  
Minna Luo ◽  
Siyu Ma ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Autosomal Recessive Inheritance ◽  
Joubert Syndrome ◽  
Causative Gene ◽  
Pathogenic Variants ◽  
Whole Exome ◽  
Syndrome Individual

Abstract Background Joubert syndrome (OMIM 213300) is an autosomal recessive disorder with gene heterogeneity. Causal genes and their variants have been identified by sequencing or other technologies for Joubert syndrome subtypes. Case presentation A two-year-old boy was diagnosed with Joubert syndrome by global development delay and molar tooth sign of mid-brain. Whole exome sequencing was performed to detect the causative gene variants in this individual, and the candidate pathogenic variants were verified by Sanger sequencing. We identified two pathogenic variants (NM_006346.2: c.1147delC and c.1054A > G) of PIBF1 in this Joubert syndrome individual, which is consistent with the mode of autosomal recessive inheritance. Conclusion In this study, we identified two novel pathogenic variants in PIBF1 in a Joubert syndrome individual using whole exome sequencing, thereby expanding the PIBF1 pathogenic variant spectrum of Joubert syndrome.

scholarly journals Effects of primary care cost-sharing among young adults: varying impact across income groups and gender

2019 ◽  
Vol 20 (8) ◽  
pp. 1271-1280 ◽  
Author(s):  
Naimi Johansson ◽  
Niklas Jakobsson ◽  
Mikael Svensson
Keyword(s):  
Primary Care ◽  
Health Care ◽  
Young Adults ◽  
Low Income ◽  
Cost Sharing ◽  
Care Physician ◽  
Quality Health Care ◽  
Income Groups ◽  
Quality Health ◽  
And Gender

AbstractWe estimate the price sensitivity in health care among adolescents and young adults, and assess how it varies across income groups and gender, using a regression discontinuity design. We use the age differential cost-sharing in Swedish primary care as our identification strategy. At the 20th birthday, the copayment increases from €0 to approx. €10 per primary care physician visit and close to this threshold the copayment faced by each person is distributed almost as good as if randomized. The analysis is performed using high-quality health care and economic register data of 73,000 individuals aged 18–22. Our results show that the copayment decreases the average number of visits by 7%. Among women visits are reduced by 9%, for low-income individuals by 11%, and for low-income women by 14%. In conclusion, modest copayments have significant utilization effects, and even in a policy context with relatively low income inequalities, the effect is substantially larger in low-income groups and among women.

scholarly journals Higher COVID-19 mortality in low-income communities in the City of Cape Town – a descriptive ecological study

2021 ◽  
Vol 5 ◽  
pp. 90
Author(s):  
Hannah Hussey ◽  
Nesbert Zinyakatira ◽  
Erna Morden ◽  
Muzzammil Ismail ◽  
Masudah Paleker ◽  
...  
Keyword(s):  
South African ◽  
Low Income ◽  
Ecological Study ◽  
Cape Town ◽  
High Poverty ◽  
Monthly Income ◽  
African City ◽  
Quality Health Care ◽  
Quality Health ◽  
The City

Background Cape Town, a South African city with high levels of economic inequality, has gone through two COVID-19 waves. There is evidence globally that low-income communities experience higher levels of morbidity and mortality during the pandemic. Methods Age-standardized COVID-19 mortality in the eight sub-districts of Cape Town was compared by economic indicators taken from the most recent Census (unemployment rate, monthly income). Results The overall Standardized Death Rate (SDR) for COVID-19 in Cape Town was 1 640 per million, but there was wide variation across the different sub-districts. A linear relationship was seen between sub-districts with high poverty and high COVID-19 SDRs. Conclusions Low-income communities in Cape Town experienced higher levels of COVID-19 mortality. As we continue to contend with COVID-19, these communities need to be prioritized for access to quality health care.

Strategies Used by Interprofessional Teams to Counter Healthcare Marginalization and Engage Complex Patients

2020 ◽  
Vol 30 (7) ◽  
pp. 1058-1071
Author(s):  
Erin Fanning Madden ◽  
Summers Kalishman ◽  
Andrea Zurawski ◽  
Patricia O’Sullivan ◽  
Sanjeev Arora ◽  
...  
Keyword(s):  
Primary Care ◽  
Health Care ◽  
Health Care Providers ◽  
Low Income ◽  
Care Providers ◽  
Quality Health Care ◽  
Complex Patients ◽  
Quality Health ◽  
Sociocultural Resources ◽  
Poor Outcomes

Low-income U.S. patients with co-occurring behavioral and physical health conditions often struggle to obtain high-quality health care. The health and sociocultural resources of such “complex” patients are misaligned with expectations in most medical settings, which ask patients to mobilize forms of these assets common among healthier and wealthier populations. Thus, complex patients encounter barriers to engagement with their health behaviors and health care providers, resulting in poor outcomes. But this outcome is not inevitable. This study uses in-depth interviews with two interprofessional primary care teams and surveys of all six teams in a complex patient program to examine strategies for improving patient engagement. Five primary care team strategies are identified. While team member burnout was a common byproduct, professional support offered by the team structure reduced this effect. Team perspectives offer insight into mechanisms of improvement and the professional burdens and benefits of efforts to counter health care marginalization among complex patients.

Congenital ocular motor apraxia with wheel-rolling ocular torsion—a neurodiagnostic phenotype of Joubert syndrome

2014 ◽  
Vol 18 (4) ◽  
pp. 404-407 ◽  
Author(s):  
Eleni Papanagnu ◽  
Lindsay D. Klaehn ◽  
Genie M. Bang ◽  
Rafif Ghadban ◽  
Brian G. Mohney ◽  
...  
Keyword(s):  
Joubert Syndrome ◽  
Ocular Motor ◽  
Ocular Torsion ◽  
Wheel Rolling ◽  
Motor Apraxia ◽  
Congenital Ocular Motor Apraxia

scholarly journals Joubert Syndrome: Reports of Two Cases

2021 ◽  
Vol 39 (2) ◽  
pp. 132-136
Author(s):  
Gopen Kumar Kundu ◽  
Bikush Chandra Paul ◽  
Krishna Mohon Poddar
Keyword(s):  
Eye Movement ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Joubert Syndrome ◽  
Molar Tooth ◽  
Related Disorder ◽  
Intervention Measures ◽  
First Case ◽  
Magnetic Resonance Imaging Mri ◽  
Female Baby

Joubert syndrome related disorder(JSRD) is an autosomal recessive disorder characterized by hypotonia, abnormal eye movement,ataxia and breathing disturbance. The hall mark of the disease isthe presence of molar tooth malformationin magnetic resonance imaging (MRI) of brain. Diagnosis ofJSRD is based on clinical and neuro-radiological findings. Early and accurate diagnosis can help in planning the early intervention measures to reduce morbidity. Here, we report two cases. The first case, a 15 month old female baby, presented with hypotonia, polydactyly and seizure with molar tooth sign (MTS) in the MRI of brain.The second case, a three and a half-year-old child presented with developmental delay, hypotonia, abnormal eye movement, seizure and classical MTS in MRI of brain. J Bangladesh Coll Phys Surg 2021; 39(2): 132-136

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