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Phenylketonuria Therapy PubMed articles on BioPortfolio. Our PubMed references draw on over 21 million records from the medical literature. Here you can see the latest Phenylketonuria Therapy articles that have been published worldwide.
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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.
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.
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...
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...
The genetic disorder phenylketonuria (PKU) is the inability to metabolize phenylalanine because of a lack of the enzyme phenylalanine hydroxylase. Phenylalanine is used to biochemically form proteins, coded for by DNA. The development of an apta-assay for detection of l-Phenylalanine is presented in this work. A highly specific DNA-aptamer, selected to l-Phenylalanine was immobilized onto a gold nanostructure and electrochemical measurements were performed in a solution containing the phosphate buffer solut...
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 ...
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...
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:...
Phenylketonuria (PKU)-associated DNA mutation in newborn children can be harmful to his health and early detection is the best way to inhibit consequences. A novel electrochemical nano-biosensor was developed for PKU detection, based on signal amplification using nanomaterials, e.g. gold nanoparticles (AuNPs) decorated on the reduced graphene oxide sheet on the screen-printed carbon electrode. The fabrication steps were checked by field emission scanning electron microscope imaging as well as cyclic voltamm...
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...
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 ...
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.
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...
To monitor changes in time spent on pediatric physical therapy actions during a COPing With and CAring for Infants With Special Needs (COPCA) course.
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.
Progestin therapy has been accepted as therapy for low- and medium-risk endometrial hyperplasia. The aim of this study was to investigate the efficacy of the low-dose levonorgestrel-impregnated intrauterine system (LNG-IUS) 13.5 mg (Jaydess®, Bayer Pharmaceuticals, Berlin, Germany) as therapy for endometrial hyperplasia.
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...
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.
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.
Patients with congenital heart disease are at risk of motor, cognitive, speech, and feeding difficulties after cardiac surgery. Rehabilitation therapy could improve functional outcomes in this population if applied in the acute postcardiac surgical in-hospital stay. However, information on the types of acute postcardiac surgery therapy needs in children is scarce. Our goal was to describe rehabilitation therapy following congenital heart surgery and pre/intraoperative factors associated with need for therap...
The use of computer simulation is arguably more widespread in other industries than in medicine. However, it has filtered into mainstream use in radiation therapy via a commercial product born from collaborative research partnership based in a radiation therapy department .The benefits and potentials of simulation training is discussed in this editorial from the perspective of an experienced radiation therapy physicist.
Early target attainment is the key factor influencing the outcome of antimicrobial therapy. The objective of the present study was to evaluate the relationship between azithromycin concentrations during the first 24-48 h of therapy and the clinical outcome in order to optimize antimicrobial therapy.