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PubMed Journals Articles About "Wayne State University Team Developing Treatments Barth Syndrome" RSS

07:23 EDT 1st April 2020 | BioPortfolio

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Showing "Wayne State University team developing treatments Barth syndrome" PubMed Articles 1–25 of 23,000+

Late diagnosis of Barth syndrome in a 39-year-old patient with non-compaction cardiomyopathy and neutropenia.

Barth syndrome is a rare X-linked recessive disorder characterized by a broad spectrum of clinical features including cardiac and skeletal myopathy, neutropenia, exercise intolerance, and growth delay. Most affected patients are diagnosed during childhood, and mortality is highest in the first years of life. As a consequence, Barth syndrome is often considered a paediatric disease. Here, we report a case where the diagnosis was established in a 39-year-old patient with left ventricular non-compaction and ne...


A Critical Appraisal of the Tafazzin Knockdown Mouse Model of Barth Syndrome: What Have We Learned About Pathogenesis and Potential Treatments?

Pediatric heart failure remains poorly understood, distinct in many aspects from adult heart failure. Limited data point to roles of altered mitochondrial functioning and in particular, changes in mitochondrial lipids, especially cardiolipin. Barth syndrome is a mitochondrial disorder caused by tafazzin mutations that lead to abnormal cardiolipin profiles. Patients are afflicted by cardiomyopathy, skeletal myopathy, neutropenia, and growth delay. A mouse model of Barth syndrome was developed a decade ago, w...

Cushing's syndrome: Treatment and new therapeutic approaches.

Overt Cushing's syndrome is a severe condition responsible for multiple comorbidities and increased mortality. Effective treatment is essential to reduce mortality, improve comorbidities and long-term quality of life. Surgical resection of the causal lesion(s) is generally the first-line and most effective treatment to normalize cortisol secretion. Adjunctive symptomatic treatments of co-morbidities are often necessary both during the active phase of the disease and for persisting co-morbidities after cessa...


Promotion of plasmalogen biosynthesis reverse lipid changes in a Barth Syndrome cell model.

In Barth syndrome (BTHS) mutations in tafazzin leads to changes in both the quantities and the molecular species of cardiolipin (CL), which are the hallmarks of BTHS. Contrary to the well-established alterations in CL associated with BTHS; recently a marked decrease in the plasmalogen levels in Barth specimens has been identified. To restore the plasmalogen levels, the present study reports the effect of promotion of plasmalogen biosynthesis on the lipidome of lymphoblasts derived from Barth patients as wel...

TAZ encodes tafazzin, a transacylase essential for cardiolipin formation and central to the etiology of Barth syndrome.

Tafazzin, which is encoded by the TAZ gene, catalyzes transacylation to form mature cardiolipin and shows preference for the transfer of a linoleic acid (LA) group from phosphatidylcholine (PC) to monolysocardiolipin (MLCL) with influence from mitochondrial membrane curvature. The protein contains domains and motifs involved in targeting, anchoring, and an active site for transacylase activity. Tafazzin activity affects many aspects of mitochondrial structure and function, including that of the electron tra...

Acute aortic dissection in a patient with Marfan syndrome during advanced pregnancy.

Pregnant patients with Marfan syndrome (MFS) are at high risk of developing aortic dissection or rupture during the third trimester and early postpartum period. This increased likelihood is the consequence of the hyperdynamic and hypervolemic cardiocirculatory state and/or pregnancy-mediated structural changes of the arterial wall in response to hemodynamic and hormonal changes. In this article, we report on the case of a 26-year-old pregnant woman with MFS in the 30th gestation week, who presented with typ...

Research ethics in inter- and multi-disciplinary teams: Differences in disciplinary interpretations.

As research teams are increasingly comprised of members from multiple disciplines, ranging from the physical sciences, life sciences, social and behavioral sciences to the arts and humanities, it is important to revisit how research is conducted at several levels. Coupled with the national concern over rigor and reproducibility in research, it is therefore crucial to ensure that all members of such multidisciplinary teams view the need for ethics in the conduct of research in similar ways. Towards this end,...

Team Physiological Dynamics: A Critical Review.

Review the use of physiological measurement in team settings and propose recommendations to improve the state of the science.

Evaluating the Role of Autistic Traits, Social Anxiety, and Social Network Changes During Transition to First Year of University in Typically Developing Students and Students on the Autism Spectrum.

This is the first longitudinal study to quantitatively evaluate changes in social network structure (SNS) and perceived social support (PSS) amongst first-year students on the autism spectrum (n = 21) and typically developing (TD; n = 182) students transitioning to university. The relative impact of changes in SNS/PSS, students' social anxiety and autistic traits, on first-year university transition outcomes were also examined. Both groups gained friends over time who provided better support quantit...

The Team, the Team, the Team: What Critical Care Research Can Learn from Football Teams.

Lexical and gestural development in 5p deletion syndrome-A case report.

Individuals with 5p deletion syndrome (also known as cri du chat syndrome) have various speech and language problems. The aim of this work was to examine early gestural and lexical development in a boy with this syndrome and to see to what extent his skills in these areas were delayed and/or deviant when compared to typically developing children.

Research Resource Identifiers (RRID) for Core Facilities and Research Equipment.

The reproducibility of research results is one of the key tenets of scientific discovery. These results are often generated using equipment located in a scientific research laboratory. Thus, it would stand to reason that sufficient, detailed, and transparent reporting of equipment is key to allowing researchers to assess the validity of previous findings. The cost of irreproducible studies has been well documented and the lack of specific and unambiguous reference to research tools contributes significantly...

Psychosis and movement disorders in an adolescent with 22q11.2 deletion syndrome.

The 22q11.2 deletion syndrome (22q11.2ds) is a genetic syndrome affecting multiple organ systems and is associated with increased risk of developing neuropsychiatric disorders. We describe a 15-year old female adolescent with 22q11.2ds, psychotic disorder, and catatonia. Individuals with 22q11.2ds are at increased risk of developing catatonia. Vulnerability for developing extrapyramidal symptoms and epileptic seizures may complicate pharmacological treatment for psychotic episodes. There may be a diagnostic...

Analysis of Alport syndrome induced by type IV collagen alpha 5 gene mutation in two families.

To investigate genetic characteristics of Alport syndrome.

Sleep in infants and toddlers with Down syndrome compared to typically developing peers: looking beyond snoring.

To compare sleep in infants and toddlers with Down syndrome (DS) to typically developing controls, including differences in snoring and sleep ecology (sleep setting and parent behaviors).

Prehospital administration of surfactant to a premature neonate in respiratory distress.

The population of the Kingdom of Bhutan is scattered in small villages throughout the eastern Himalaya. Infants born prematurely in villages have no access to neonatal intensive care until they are transported to the national referral hospital, a process that once took hours, if not days. After the introduction of a helicopter critical-care retrieval team, we were able to send a trained team to a remote location that successfully administered surfactant and initiated critical care to a premature, extreme lo...

Resting-state connectivity and the effects of treatment in restless legs syndrome.

Resting-state brain connectivity has been shown to differ for Restless Legs Syndrome (RLS) compared to healthy control (CON) groups. This study evaluates the degree these RLS-CON differences are changed by concurrent treatment.

Bouveret´s syndrome: a rarest complication of cholelithiasis. A case report and literature review.

Bouveret´s syndrome refers to the condition of gastric outlet obstruction caused by the impaction of a large gallstone into the duodenum after passage through a cholecystoduodenal fistula. Many endoscopic and surgical techniques have been described in the management of this syndrome, however the morbidity and mortality are still very high. We present the case of a 67-year-old female patient with Bouveret´s syndrome, with successful resolution with surgical treatment after two failed endoscopic treatments.

State Medicaid Coverage for Tobacco Cessation Treatments and Barriers to Accessing Treatments - United States, 2008-2018.

The prevalence of current cigarette smoking is approximately twice as high among adults enrolled in Medicaid (23.9%) as among privately insured adults (10.5%), placing Medicaid enrollees at increased risk for smoking-related disease and death (1). Medicaid spends approximately $39 billion annually on treating smoking-related diseases (2). Individual, group, and telephone counseling and seven Food and Drug Administration (FDA)-approved medications* are effective in helping tobacco users quit (3). Comprehensi...

Cognitive appraisals and team performance under stress: A simulation study.

The present study explored how challenge and threat responses to stress relate to performance, anxiety, confidence, team identity and team characteristics (time spent in training and postgraduate experience) in a medical simulation-based team competition.

Association of Punitive and Reporting State Policies Related to Substance Use in Pregnancy With Rates of Neonatal Abstinence Syndrome.

Despite the rapidly changing policy environment regarding substance use during pregnancy, information is lacking on the association of state policies with neonatal abstinence syndrome (NAS).

Sleep problems and recall memory in children with Down syndrome and typically developing controls.

Research conducted with typically developing (TD) infants and children generally indicates that better habitual sleep and sleep after learning are related to enhanced memory. Less is known, however, about associations between sleep and recall memory in children with Down syndrome (DS).

Advances in CNS PET: the state-of-the-art for new imaging targets for pathophysiology and drug development.

A limit on developing new treatments for a number of central nervous system (CNS) disorders has been the inadequate understanding of the in vivo pathophysiology underlying neurological and psychiatric disorders and the lack of in vivo tools to determine brain penetrance, target engagement, and relevant molecular activity of novel drugs. Molecular neuroimaging provides the tools to address this. This article aims to provide a state-of-the-art review of new PET tracers for CNS targets, focusing on development...

Genetic analysis of a family of Van der Woude syndrome.

To analyze clinical and genetic features of a family affected with Van der Woude syndrome.

Acupuncture for Carpal Tunnel Syndrome: A Randomized Controlled Trial Studying Changes in Clinical Symptoms and Electrodiagnostic Tests.

Carpal tunnel syndrome (CTS) is the most frequent entrapment neuropathy in humans. Nonsurgical management is still a matter of debate, and conservative treatments include splinting, local steroid injections, ultrasound, and oral steroids. Acupuncture and electroacupuncture therapy for symptomatic CTS may improve symptoms and aid nerve repair as well as improve sensory and motor functions. However, limited evidence based on comprehensive evaluation methods is available regarding the effects of those treatmen...


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