452 results match your criteria Compound Presentations

The Synthesis and Evaluation of Multivalent Glycopeptoids as Inhibitors of the Adhesion of .

Pathogens 2021 May 8;10(5). Epub 2021 May 8.

Department of Chemistry, Maynooth University, Maynooth, W23VP22 Co. Kildare, Ireland.

Multivalency is a strategy commonly used by medicinal carbohydrate chemists to increase the affinity of carbohydrate-based small molecules for their protein targets. Although this approach has been very successful in enhancing binding to isolated carbohydrate-binding proteins, anticipating the multivalent presentations that will improve biological activity in cellular assays remains challenging. In this work we investigate linear molecular scaffolds for the synthesis of a low valency presentation of a divalent galactoside , previously identified by us as an inhibitor of the adhesion of opportunistic fungal pathogen to buccal epithelial cells (BECs). Read More

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PYCR2 Mutation Causing Hypomyelination and Microcephaly in an Indian Child.

Cureus 2021 Apr 24;13(4):e14661. Epub 2021 Apr 24.

Radiology, Tata Main Hospital, Jamshedpur, IND.

Hypomyelinating leukodystrophy (HLD) represents a group of clinically overlapping but genetically heterogeneous diseases. This group of disorders has the improper formation of myelin sheaths in the central nervous system (CNS), resulting in abnormal white matter, with characteristic MRI findings and clinical presentations of mostly motor dysfunction with variable cognitive and language impairment. We report a case of a three-year-old boy with global developmental delay, dysmorphic facies, motor signs, progressive microcephaly, and failure to thrive. Read More

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LBSL: Case Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations.

Neurol Genet 2021 Apr 2;7(2):e559. Epub 2021 Feb 2.

Department of Child Neurology, Emma Childrens Hospital, Amsterdam University Medical Centers, Vrije Universiteit and Amsterdam Neuroscience, The Netherlands (M.D.S., T.E.M.A.); Department of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Italy (S.F., C.D., P.G.); Area di Ricerca Genetica e Malattie Rare (E.B.), Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy; Laboratory of Oncology and Molecular Genetics (K.A.), Clínica las Condes, Santiago, Chile; Department of Pediatric Neurology (C.C.), Clínica Las Condes, Santiago, Chile; Division of Child Neurology (P.T.), Department of Neurology, Istanbul Faculty of Medicine, Turkey; Department of Paediatrics (C.A.S.), Royal Childrens Hospital, Murdoch Childrens Research Institute and University of Melbourne, Victoria, Australia; Pediatric Neurology (C.E.E.), Radboud University Medical Center, Amalia Childrens Hospital, Nijmegen, The Netherlands; Department of Pediatrics (A.S.-V.), University of South Florida, Tampa; Unit of Pediatric Neurology and Neurorehabilitation (S.L.), Department WomanMother-Child, Lausanne University Hospital, Switzerland; Community Pediatrics, Royal Berkshire Hospital, Reading (S.H.), United Kingdom; Neuropediatric Department (T.S.-M.), Childrens Hospital, Luzern, Switzerland; Unit of Neurorehabilitation (G.V.), Department of Neurosciences, Bambino Gesù Children's Research Hospital, IRCCS, Rome, Italy; Paediatric Neurology (G.C.), Nottingham Childrens Hospital, United Kingdom; PEDEGO Research Unit (E.R.), Medical Research Center and Department of Clinical Genetics, University of Oulu and Oulu University Hospital, Finland; Radiology (C.O.), Clínica las Condes, Santiago, Chile; Unit of Neuromuscular and Neurodegenerative Disorders (E.S.B), Area di Ricerca Genetica e Malattie Rare and Department of Neurosciences, Bambino Gesù Children's Research Hospital, IRCCS, Rome, Italy; and Department of Child Neurology (M.S.v.d.K.), Emma Childrens Hospital and Department of Functional Genomics, Center for Neurogenomics and Cognitive Research, VU University, Amsterdam, the Netherlands.

Objective: Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is regarded a relatively mild leukodystrophy, diagnosed by characteristic long tract abnormalities on MRI and biallelic variants in , encoding mitochondrial aspartyl-tRNA synthetase (mtAspRS). variants in LBSL are almost invariably compound heterozygous; in 95% of cases, 1 is a leaky splice site variant in intron 2. A few severely affected patients, still fulfilling the MRI criteria, have been described. Read More

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Congenital defects of glycosylation: Novel presentations with mainly neurological involvement and variable dysmorphic features.

Am J Med Genet A 2021 May 7. Epub 2021 May 7.

Faculty of Medicine, Department of Metabolic Diseases, Gazi University, Ankara, Turkey.

The pathophysiology of congenital defects of glycosylation (CDG) is complex and the diagnosis has been a challenge because of the overlapping clinical signs and symptoms as well as a large number of disorders. Isoelectric focusing of transferrin has been used as a screening method but has limitations. Individual enzyme or molecular genetic tests have been difficult to perform. Read More

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Electrophilic and Drug-Induced Stimulation of NOTCH3 N-terminal Fragment Oligomerization in Cerebrovascular Pathology.

Transl Stroke Res 2021 May 3. Epub 2021 May 3.

Department of Neurology, University of Michigan, 7725 Medical Science Building II Box 5622, 1137 Catherine St., Ann Arbor, MI, 48109-5622, USA.

Small vessel disease is a prevalent age-related condition linked to increased risk of dementia and stroke. We investigate the most commonly inherited form, CADASIL, caused by cysteine-involving mutations in NOTCH3. Recent studies highlight accumulation of NOTCH3 N-terminal fragmentation product (NTF) in disease. Read More

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Case Report: Compound Heterozygous Variants in Identified in a Chinese Infant With Molybdenum Cofactor Deficiency.

Front Genet 2021 8;12:651878. Epub 2021 Apr 8.

Department of Medical Genetics, Maternal and Child Health Hospital of Hunan Province, Changsha, China.

The molybdenum cofactor (Moco) deficiency in humans results in the inactivity of molybdenum-dependent enzymes and is caused by pathogenic variants in (), (), and (). These genes along with () are involved in Moco biosynthesis and providing cofactors to Moco-dependent enzymes. Until now, there was no study to confirm that is a causative gene of Moco deficiency. Read More

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Multivalent Presentations of Glycomimetic Inhibitor of the Adhesion of Fungal Pathogen to Human Buccal Epithelial Cells.

Bioconjug Chem 2021 May 22;32(5):971-982. Epub 2021 Apr 22.

Department of Chemistry, Maynooth University, Maynooth, W23VP22, Co. Kildare, Ireland.

causes some of the most prevalent hospital-acquired fungal infections, particularly threatening for immunocompromised patients. strongly adheres to the surface of epithelial cells so that subsequent colonization and biofilm formation can take place. Divalent galactoside glycomimetic was found to be a potent inhibitor of the adhesion of to buccal epithelial cells. Read More

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Novel Mutations of the TYMP Gene in Mitochondrial Neurogastrointestinal Encephalomyopathy: Case Series and Literature Review.

J Mol Neurosci 2021 Apr 6. Epub 2021 Apr 6.

School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a multi-system disorder caused by several homozygous or compound heterozygous mutations, mostly in the nuclear gene of TYMP. Our current knowledge on the underlying pathology of the disease is derived through the study of about 200 cases of different ethnicities. Clinical presentations include severe cachexia, weakness, ptosis, diplopia, abdominal cramps or digestive tract disorders, hearing impairment, and paresthesia. Read More

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The genetics and clinical manifestations of patients with vitamin D dependent rickets type 1A.

J Pediatr Endocrinol Metab 2021 Jun 7;34(6):781-789. Epub 2021 Apr 7.

Department of Pediatric Endocrinology, Ataturk University Faculty of Medicine, Erzurum, Turkey.

Objectives: Vitamin D dependent rickets type 1A (VDDR-1A) is a very rare autosomal recessive disorder caused by mutations in the , which encodes vitamin D 1α-hydroxylase. We report the genetics and clinical manifestations of nine patients with VDDR-1A and compare our patients to other cases with the same mutations in the literature.

Methods: The clinical presentations, clinical and laboratory findings and treatment modalities of the patients were evaluated retrospectively. Read More

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Oliver McFarlane syndrome: two new cases and a review of the literature.

Ophthalmic Genet 2021 Apr 5:1-10. Epub 2021 Apr 5.

Department of Ophthalmology, Copenhagen University Hospital, Rigshospitalet , Copenhagen, Denmark.

: Oliver McFarlane syndrome is a rare syndrome. Clinical presentations include trichomegaly, chorioretinal degeneration, pituitary hormone deficits, and neurological manifestations. Genetic analysis has recently placed this syndrome within the group of -related disorders. Read More

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Reduced Repetition Suppression in Aging is Driven by Tau-Related Hyperactivity in Medial Temporal Lobe.

J Neurosci 2021 Apr 17;41(17):3917-3931. Epub 2021 Mar 17.

Helen Wills Neuroscience Institute, University of California, Berkeley, Berkeley, California 94720.

Tau deposition begins in the medial temporal lobe (MTL) in aging and Alzheimer's disease (AD), and MTL neural dysfunction is commonly observed in these groups. However, the association between tau and MTL neural activity has not been fully characterized. We investigated the effects of tau on repetition suppression, the reduction of activity for repeated stimulus presentations compared to novel stimuli. Read More

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A novel 9 bp deletion (c.1271_1279delGTGCCCGCG) in exon 10 of CYP21A2 gene causing severe congenital adrenal hyperplasia.

Endocrine 2021 Mar 14. Epub 2021 Mar 14.

Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Belgrade, Serbia.

Background: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder of adrenal steroidogenesis with a broad spectrum of clinical presentations, ranging from the severe classical salt-wasting (SW) and simple-virilizing (SV) form, to the mild nonclassical form. A large variety of CYP21A2 genotypes in correlation with phenotype have been described.

Materials And Methods: DNA samples from a 14-day-old male newborn with clinical and laboratory signs of SW CAH and family members were subjected for molecular analysis of the nine most common point CYP21A2 mutations by ACRS/PCR method. Read More

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New pathogenic variants in COQ4 cause ataxia and neurodevelopmental disorder without detectable CoQ deficiency in muscle or skin fibroblasts.

J Neurol 2021 Mar 11. Epub 2021 Mar 11.

IRCCS Fondazione Stella Maris, Pisa, Italy.

COQ4 is a component of an enzyme complex involved in the biosynthesis of coenzyme Q (CoQ), a molecule with primary importance in cell metabolism. Mutations in the COQ4 gene are responsible for mitochondrial diseases showing heterogeneous age at onset, clinical presentations and association with CoQ deficiency. We herein expand the phenotypic and genetic spectrum of COQ4-related diseases, by reporting two patients harboring bi-allelic variants but not showing CoQ deficiency. Read More

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Clinical and Genetic Characteristics of Mitochondrial Encephalopathy Due to Mutations: Two Chinese Case Reports and a Review of the Literature.

Front Neurol 2021 3;12:633397. Epub 2021 Feb 3.

Department of Neurology, Children's Hospital of Fudan University, Shanghai, China.

As one of the assembly factors of complex I in the mitochondrial respiratory chain, FOXRED1 plays an important role in mitochondrial function. However, only a few patients with mitochondrial encephalopathy due to FOXRED1 defects have been reported. Two Chinese patients with mitochondrial encephalopathy due to mutations in were identified through trio whole-exome sequencing. Read More

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February 2021

Cleveland Clinic International IV Robotics Summit.

Am J Health Syst Pharm 2021 04;78(9):800-805

American Pharmacists Association, Washington, DC, USA.

Purpose: The proceedings of an international summit on the current and desired future state of use of robotic systems to compound intravenous (IV) solutions are summarized.

Summary: The International IV Robotics Summit was held at the Cleveland Clinic main campus in Cleveland, OH, on April 29 and 30, 2019. The purpose of the summit was 2-fold: (1) to define the current state of robotic IV compounding and (2) to develop a guide for automation companies, pharmacy departments, and drug manufacturers to improve the technology and expand the use of IV robotics in health systems in the future. Read More

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A Novel Mutation of Gene in a Case of Wilson Disease.

Medicina (Kaunas) 2021 Jan 29;57(2). Epub 2021 Jan 29.

Department of Medical Biology, Faculty of Medicine, Ataturk University, 25240 Erzurum, Turkey.

Wilson disease (WD) (OMIM# 277900) is an autosomal recessive inherited disorder characterized by excess copper (Cu) storage in different human tissues, such as the brain, liver, and the corneas of the eyes. It is a rare disorder that occurs in approximately 1 in 30,000 individuals. The clinical presentations of WD are highly varied, primarily consisting of hepatic and neurological conditions. Read More

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January 2021

Lack of association between acute stroke, post-stroke dementia, race, and β-amyloid status.

Neuroimage Clin 2021 5;29:102553. Epub 2021 Jan 5.

Department of Neurology, Washington University School of Medicine, St. Louis, MO USA. Electronic address:

Introduction: Stroke and Alzheimer disease share risk factors and often co-occur, and both have been reported to have a higher prevalence in African Americans as compared to non-Hispanic whites. However, their interaction has not been established. The objective of this study was to determine if preclinical Alzheimer disease is a risk factor for stroke and post-stroke dementia and whether racial differences moderate this relationship. Read More

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January 2021

Renshen (Panax ginseng) and Huanglian (Rhizoma Coptidis) For T2DM: A protocol of systematic review and meta-analysis of randomized clinical trials.

Medicine (Baltimore) 2021 Jan;100(2):e23743

GuangXi University of Chinese Medicine, Nanlin, Guangxi, China.

Introduction: Type 2 diabetes mellitus (T2DM) is a metabolic disease characterized by high blood sugar caused by impaired insulin action. With an increasing incidence year by year, it has become a worldwide epidemic. Because of its serious, long-term condition, T2DM has a bad impact on the life and well-being of individuals, families and society. Read More

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January 2021

Two siblings with a novel variant of EXOSC3 extended phenotypic spectrum of pontocerebellar hypoplasia 1B to an exceptionally mild form.

BMJ Case Rep 2021 Jan 18;14(1). Epub 2021 Jan 18.

Department of Neurology, Johns Hopkins School of Medicine, Baltimore, Maryland, USA

Pontocerebellar hypoplasia type 1B (PCH1B) describes an autosomal recessive neurological condition that involves hypoplasia or atrophy of the cerebellum and pons, resulting in neurocognitive impairments. Although there is phenotypic variability, this is often an infantile lethal condition, and most cases have been described to be congenital and neurodegenerative. PCH1B is caused by mutations in the gene EXOSC3, which encodes exosome component 3, a subunit of the human RNA exosome complex. Read More

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January 2021

Diagnosis of cystic fibrosis in adulthood and eligibility for novel CFTR modulator therapy.

Postgrad Med J 2021 Jan 15. Epub 2021 Jan 15.

Respiratory Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, Oxfordshire, UK.

Background: Cystic fibrosis (CF) is an autosomal recessive condition that primarily manifests as a chronic respiratory disease. CF is usually diagnosed in early childhood or through newborn screening although in a small but important group, diagnosis is not made until adulthood. Highly effective cystic fibrosis transmembrane conductance regulator (CFTR) modulator therapies are now available for most genetic causes of CF highlighting the importance of identifying people with late presentations of CF. Read More

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January 2021

Protocol for a young adult mental health (Uspace) cohort: personalising multidimensional care in young people admitted to hospital.

BMJ Open 2021 01 11;11(1):e038787. Epub 2021 Jan 11.

Brain and Mind Centre, The University of Sydney, Sydney, New South Wales, Australia.

Introduction: Currently, the literature on personalised and measurement-based mental healthcare is inadequate with major gaps in the development and evaluation of 21st century service models. Clinical presentations of mental ill health in young people are heterogeneous, and clinical and functional outcomes are often suboptimal. Thus, treatments provided in a person-centred and responsive fashion are critical to meet the unique needs of young people and improve individual outcomes. Read More

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January 2021

Novel Pathogenic Variants of the AIRE Gene in Two Autoimmune Polyendocrine Syndrome Type I Cases with Atypical Presentation: Role of the NGS in Diagnostic Pathway and Review of the Literature.

Biomedicines 2020 Dec 19;8(12). Epub 2020 Dec 19.

Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.

. Autoimmune polyglandular syndrome type 1 (APS-1) with or without reversible metaphyseal dysplasia is a rare genetic disorder due to inactivating variants of the autoimmune regulator, gene. Clinical variability of APS-1 relates to pleiotropy, and the general dysfunction of self-tolerance to organ-specific antigens and autoimmune reactions towards peripheral tissues caused by the underlying molecular defect. Read More

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December 2020

Effect of large dosage of Prunella on Hashimoto's thyroiditis: A protocol of systematic review and meta-analysis of randomized clinical trials.

Medicine (Baltimore) 2020 Dec;99(50):e23391

Hospital of Chengdu University of Traditional Chinese Medicine, Chengdu, Sichuan, China.

Introduction: Hashimoto's Thyroiditis (HT) is one of the common autoimmune diseases, which can lead to thyroid reduction, increase the risk of tumor, and seriously affect women's reproductive health. Many other autoimmune diseases are easy to occur, seriously harming people's health.large dose herb Prunella or compound prescription contain large dose Prunella for treatment of HT has already been confirmed. Read More

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December 2020

A severe form of autosomal recessive spinocerebellar ataxia associated with novel PMPCA variants.

Brain Dev 2021 Mar 1;43(3):464-469. Epub 2020 Dec 1.

Center for Postgraduate Education and Training, National Center for Child Health and Development (NCCHD), Tokyo, Japan.

Spinocerebellar ataxia, autosomal recessive 2 (SCAR2) [MIM:213200] is a rare autosomal recessive disease of spinocerebellar ataxia associated with degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR2 is characterized by onset of impaired motor development and ataxic gait in early childhood. Recently, several PMPCA gene variants have been reported in SCAR2 patients with mild and non-progressive symptoms. Read More

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Presentations of tetramethylammonium hydroxide dermal exposure and the valuable potential of diphoterine solution in decontamination: a retrospective observational study.

BMC Pharmacol Toxicol 2020 11 30;21(1):83. Epub 2020 Nov 30.

Division of Clinical Toxicology and Occupational Medicine, Department of Medicine, Taipei Veterans General Hospital, Taipei, Taiwan.

Background: Tetramethylammonium hydroxide (TMAH) is a quaternary ammonium compound that is both a base corrosive and a cholinergic agonist, and it is widely used in the photoelectric and semiconductor industries. It causes corrosive skin injuries and systemic cholinergic toxicity with death primarily resulting from respiratory failure without efficacious early decontamination.

Methods: A retrospective observational study was performed of all cases of TMAH exposure reported to the Taiwan Poison Control Center between July 2010 and October 2017. Read More

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November 2020

Recurrent prenatal PIEZO1-related lymphatic dysplasia: Expanding molecular and ultrasound findings.

Eur J Med Genet 2021 Jan 20;64(1):104106. Epub 2020 Nov 20.

Department of Experimental Medicine, Sapienza University of Rome, Policlinico Umberto I Hospital, Rome, Italy.

Generalized lymphatic dysplasia (GLD), characterized by lymphedema, lymphangiectasias, chylothorax, effusions, represents a recognized cause of fetal hydrops. We describe for the first time recurrent pregnancies showing different ultrasound presentations of lymphatic dysplasia. The first fetus displayed diffuse subcutaneous cysts and septations while the second one presented fetal hydrops. Read More

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January 2021

Compound heterozygous inheritance of two novel COQ2 variants results in familial coenzyme Q deficiency.

Orphanet J Rare Dis 2020 11 13;15(1):320. Epub 2020 Nov 13.

Edward S. Harkness Eye Institute, Columbia University Irving Medical Center, New York, NY, USA.

Background: Primary coenzyme Q10 deficiency is a rare disease that results in diverse and variable clinical manifestations. Nephropathy, myopathy and neurologic involvement are commonly associated, however retinopathy has also been observed with certain pathogenic variants of genes in the coenzyme Q biosynthesis pathway. In this report, we describe a novel presentation of the disease that includes nephropathy and retinopathy without neurological involvement, and which is the result of a compound heterozygous state arising from the inheritance of two recessive potentially pathogenic variants, previously not described. Read More

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November 2020

The Toxicity, Pathophysiology, and Treatment of Acute Hydrazine Propellant Exposure: A Systematic Review.

Mil Med 2021 02;186(3-4):e319-e326

Department of Emergency Medicine, Brooke Army Medical Center, Fort Sam Houston, TX, 78234, USA.

Introduction: Hydrazines are highly toxic inorganic liquids that are used as propellants in military and aviation industries, such as the U.S. Air Force F-16 Emergency Power Unit and SpaceX SuperDraco Rockets. Read More

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February 2021

Deutetrabenazine for treatment of involuntary movements in patients with tardive dyskinesia.

Expert Rev Neurother 2021 Jan 23;21(1):9-20. Epub 2020 Nov 23.

Movement Disorders Neuromodulation & Brain Circuit Therapeutics, Departments of Neurology and Neurosurgery, Icahn School of Medicine at Mount Sinai , New York, NY, USA.

: Tardive dyskinesia (TD) is a hyperkinetic movement disorder that arises as a complication of exposure to dopamine receptor blocking agents. Vesicular monoamine transporter type 2 (VMAT2) inhibitors reduce dyskinesia by decreasing transport of monoamines, including dopamine, into presynaptic vesicles, leaving unpackaged dopamine to be metabolized by monoamine oxidase. Deutetrabenazine was adapted from an earlier VMAT2 inhibitor, tetrabenazine, by substituting three deuterium isotopes in place of three hydrogen isotopes at the site of metabolic degradation to improve upon the pharmacokinetics of the parent compound. Read More

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January 2021