PubMed Journals Articles About "Phenylketonuria Therapy" RSS

20:52 EST 15th January 2019 | BioPortfolio

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Showing "phenylketonuria therapy" PubMed Articles 1–25 of 11,000+

Pegvaliase: a novel treatment option for adults with phenylketonuria.

In May 2018, the United States Food and Drug Administration approved pegvaliase-pqpz (Palynziq*), the first enzyme substitution therapy for the treatment of phenylketonuria (PKU). This article provides an overview of the mechanism of action, pharmacokinetic properties, clinical efficacy, and the safety and tolerability profile of pegvaliase.

The impact of phenylketonuria on PKU patients' quality of life: Using of the phenylketonuria-quality of life (PKU-QOL) questionnaires.

Phenylketonuria (PKU) has a very high prevalence throughout the world. Nowadays, number of studies about impact of this metabolic disease on patients increasing. The aim of our study is to examine PKU patients' quality of life according to PKU-QOL questionnaires.

Characteristics of PAH gene variants among 113 phenylketonuria patients from Henan Province.

To explore the characteristics of PAH gene variants among 113 phenylketonuria patients from Henan Province.

Molecular-genetic causes for the high frequency of phenylketonuria in the population from the North Caucasus.

Phenylketonuria is an inherited disease caused by mutations in the phenylalanine hydroxylase gene PAH. Different PAH pathogenic variants occur in different ethnic groups with various frequencies and the incidence of the disease itself varies from country to country. In the Caucasus region of Russia, some ethnoses are geographically and culturally isolated from each other. The tradition of monoethnic marriages may cause decreased genetic variability in those populations. In the Karachay-Cherkess Republic (Ru...

The phenylketonuria patient: A recent dietetic therapeutic approach.

Phenylalanine hydroxylase (PAH) deficiency, commonly named phenylketonuria (PKU) is a disorder of phenylalanine (Phe) metabolism inherited with an autosomal recessive trait. It is characterized by high blood and cerebral Phe levels, resulting in intellectual disabilities, seizures, etc. Early diagnosis and treatment of the patients prevent major neuro-cognitive deficits. Treatment consists of a lifelong restriction of Phe intake, combined with the supplementation of special medical foods, such as Amino Acid...

Neurological Sequelae due to Inborn Metabolic Diseases in Pediatric Refugees: Challenges in Treating the Untreated.

In the 2015 mass migration from Syria and neighboring countries, Germany received an unprecedented number of 4,76,649 asylum applications. As many of the refugees arrived in Southern Germany via the Austrian border, the city of Munich was faced with the majority of Germany's inflow of war refugees and their complex health issues. Among the refugees were a high number of children. Their main health issues were infectious diseases and surgical procedures due to trauma, but we also encountered complex chronic ...

Attention-deficit hyperactivity disorder in Brazilian patients with phenylketonuria.

Recent studies have shown that patients with phenylketonuria (PKU), even with the early diagnosis and continuous treatment, may have symptoms of attention-deficit hyperactivity disorder (ADHD) and that the prevalence of ADHD in this population would be higher than in the general population. This study aims to determine the prevalence of ADHD in a sample of PKU patients from Southern Brazil. Patients were prospectively assessed by clinical interviews, neurological examination, and application of the MTA-SNAP...

Deficiency of long-chain polyunsaturated fatty acids in phenylketonuria: a cross-sectional study.

The etiology of altered blood fatty acid (FA) profile in phenylketonuria (PKU) is understood only partially. We aimed to determine whether FAs deficiency is dependent on the diet or metabolic disturbances. The study comprised 40 PKU patients (20 female, 20 male; aged 11 to 35 years; 12 children and 28 adults) and 40 healthy subjects (HS; 20 female, 20 male, aged 18 to 33 years). We assessed the profile of FAs (gas chromatography/mass spectrometry) and analyzed the 72-hour dietary recalls. The amount of C14:...

Development of a synthetic live bacterial therapeutic for the human metabolic disease phenylketonuria.

Phenylketonuria (PKU) is a genetic disease that is characterized by an inability to metabolize phenylalanine (Phe), which can result in neurotoxicity. To provide a potential alternative to a protein-restricted diet, we engineered Escherichia coli Nissle to express genes encoding Phe-metabolizing enzymes in response to anoxic conditions in the mammalian gut. Administration of our synthetic strain, SYNB1618, to the Pah PKU mouse model reduced blood Phe concentration by 38% compared with the control, independe...

Late-diagnosed phenylketonuria mimicking x-linked adrenoleukodystrophy with heterozygous mutations of the PAH Gene: A case report and literature review.

Phenylketonuria (PKU) is a prevalent inherited metabolic disorder caused by a phenylalanine hydroxylase (PAH) or tetrahydrobiopterin (BH4) deficiency, which leads to the accumulation of phenylalanine (PHE). High blood levels of PHE have a toxic effect on the brain and are associated with several neurological signs. Most cases of PKU are identified during infancy, and diagnosis of PKU in adult is rare. Here, we describe a 29-year-old patient with progressive dementia and muscular weakness mimicking X-linked ...

How is the audit of therapy intensity influencing rehabilitation in inpatient stroke units in the UK? An ethnographic study.

Occupational therapy, physiotherapy and speech and language therapy are central to rehabilitation after a stroke. The UK has introduced an audited performance target: that 45 min of each therapy should be provided to patients deemed appropriate. We sought to understand how this has influenced delivery of stroke unit therapy.

Improving In Vitro Photodynamic Therapy through the Development of a Novel Iron Chelating Aminolaevulinic Acid Prodrug.

Photodynamic therapy (PDT) is a light activated drug therapy that can be used to treat a number of cancers and precancers. It is particularly useful in its topical form in dermatology but improvement of efficacy is required to widen its application.

Occupational Therapy Practitioners' Perspectives on Occupation-Based Interventions for Clients With Hip Fracture.

Occupational engagement is the foundation of occupational therapy. We identified perspectives of 18 occupational therapy practitioners on integrating occupation-based interventions during postacute care (PAC) rehabilitation for persons with hip fracture to identify occupational therapy's distinct contribution.

Hormone Therapy During Peri- and Postmenopause.

The recently published 18-year-follow-up of the WHI-study might resolve the long-standing dispute about hormone therapy, possibly reconciling the opposing parties attributing life-threatening risks to either the administration or the withholding of hormone therapy. 16 608 women without hysterectomy had taken either combined hormone therapy with estrogen and progestin or placebo for an average of 5.2 years, while 10 739 women after hysterectomy (and bilateral ovarectomy in 40 %) had taken either estrog...

Changes in Therapist Actions During a Novel Pediatric Physical Therapy Program: Successes and Challenges.

To monitor changes in time spent on pediatric physical therapy actions during a COPing With and CAring for Infants With Special Needs (COPCA) course.

Did Clarification of Medicare Guidelines Change Outpatient Physical Therapy and Occupational Therapy Usage? A retrospective analysis.

To determine if there was a change in the number of outpatient physical therapy (PT) and occupational therapy (OT) visits for Medicare beneficiaries, and in the number of beneficiaries receiving extended courses of >12 therapy visits, after the "Jimmo v. Sebelius" settlement.

Commentary on "Informing the Update to the Physical Therapy Management of Congenital Muscular Torticollis Clinical Practice Guideline".

Commentary on "Progression of Ankle Plantarflexion Contractures and Functional Decline in Duchenne Muscular Dystrophy: Implications for Physical Therapy Management".

The Roots and Evolution of Ego-State Theory and Therapy.

The purpose of this article is to elucidate the origins of ego-state theory and therapy and to discuss the concept of human personality as a structure comprising numerous ego states. The historical roots of ego-state theory and therapy are reviewed. Also, the evolution of ego-state therapy from classic hypnotherapy to modern methods is identified. The article notes that these methods of ego-state therapy have been described by different authors and under different names. It is suggested that core concepts r...

Cognitive behavior therapy for child and adolescent anxiety disorders: an update on recent evidence.

To present an updated review of recent studies into the effect of cognitive behavior therapy (CBT) for anxiety disorders in children and adolescents, ways to increase access to therapy, and predictors and moderators of therapy effect.

Comparison of the effectiveness of radiotherapy with photons and particles for chordoma after surgery: a meta-analysis.

Particle therapy has been reported as an emerging radiotherapy for several tumors, but its effectiveness for chordoma still need to be studied. This meta-analysis was performed to compare the effectiveness of photon therapy, proton therapy, and carbon-ion therapy for chordoma.

Commentary on "Whole-Body Vibration Training Designed to Improve Functional Impairments After Pediatric Inpatient Anticancer Therapy: A Pilot Study".

The 1st WFH Gene Therapy Round Table: Understanding the landscape and challenges of gene therapy for haemophilia around the world.

In this first in a series of round table meetings, the 1st World Federation of Hemophilia Gene Therapy Round Table was convened to initiate a global dialogue on the expected challenges and opportunities that a disruptive therapy, such as gene therapy, will bring to the haemophilia community. Perspectives from key stakeholder groups, including healthcare professionals, regulators, payors, people with hemophilia and pharmaceutical industry representatives, were sought in the identification of the key issues w...

Commentary on "Moving Toward Excellence in Pediatric Physical Therapy Education: A Scoping Review".

Commentary on "Changes in Therapist Actions During a Novel Pediatric Physical Therapy Program: Successes and Challenges".

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