407 results match your criteria Compound Presentations


Hemoglobin S/Hemoglobin Quebec-Chori Presenting as Sickle Cell Disease: A Case Report.

J Pediatr Hematol Oncol 2020 Jul 10. Epub 2020 Jul 10.

University of Connecticut School of Medicine.

Background: Sickle cell disease is a homozygous hemoglobinopathy with vaso-occlusive complications secondary to abnormal sickling of red blood cells under stressful conditions such as hypoxia. Children with sickle cell trait have a heterozygous genetic state, typically without symptoms.

Observation: An 8-year-old boy diagnosed with sickle cell trait was found to have multiple complications consistent with sickle cell disease, including pain crises, osteomyelitis, and priapism. Read More

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http://dx.doi.org/10.1097/MPH.0000000000001882DOI Listing

Sex Differences in Cue Competition Effects With a Conditioned Taste Aversion Preparation.

Front Behav Neurosci 2020 22;14:107. Epub 2020 Jun 22.

Instituto de Ciencias Sociales, Universidad de O'Higgins, Rancagua, Chile.

This study aimed to test whether male and female rats might show differences in cue competition effects in a conditioned taste aversion (CTA) model. Experiment 1 tested for sex differences in overshadowing. After conditioning of a flavored compound AB or only one simple flavor A (being A and B a solution of sugar 10% and salt 1%, counterbalanced), consumption of the A solution at test was larger in the former than in the latter case only in males. Read More

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http://dx.doi.org/10.3389/fnbeh.2020.00107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7325977PMC

Werewolf, There Wolf: Variants in Associated with Hypotrichia and Roaning in the Lykoi Cat Breed.

Genes (Basel) 2020 Jun 22;11(6). Epub 2020 Jun 22.

Department of Veterinary Medicine and Surgery, College of Veterinary Medicine, University of Missouri, Columbia, MO 65211,USA.

A variety of cat breeds have been developed via novelty selection on aesthetic, dermatological traits, such as coat colors and fur types. A recently developed breed, the lykoi (a.k. Read More

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http://dx.doi.org/10.3390/genes11060682DOI Listing

Unusual context of variants and primary microcephaly: compound heterozygosity and nonconsanguinity in an Argentinian patient.

Hum Genome Var 2020 8;7:20. Epub 2020 Jun 8.

Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.

Primary microcephaly (MCPH) is a genetically heterogeneous disorder showing an autosomal recessive mode of inheritance. Patients with MCPH present head circumference values two or three standard deviations (SDs) significantly below the mean for age- and sex-matched populations. MCPH is associated with a nonprogressive mild to severe intellectual disability, with normal brain structure in most patients, or with a small brain and gyri without visceral malformations. Read More

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http://dx.doi.org/10.1038/s41439-020-0105-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7280259PMC

Severe Phenotype in a Patient With Homozygous 15q21.2 Microdeletion Involving , , and Genes, Resembling Infantile Developmental Disorder With Cardiac Arrhythmias (IDDCA).

Front Genet 2020 13;11:399. Epub 2020 May 13.

Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

Homozygous and compound heterozygous mutations in gene have been associated with a wide spectrum of clinical presentations, ranging from neurodevelopmental issues with or without cardiac arrhythmia (LADCI) to severe developmental delay with epileptic encephalopathy, retinal dystrophy, and heart rhythm abnormalities (IDDCA). While missense or missense/non-sense mutations usually lead to milder form, the biallelic loss of function of 5 gene causes the severe multisystemic IDDCA phenotype. So far, only 27 patients have been described with -associated disease. Read More

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http://dx.doi.org/10.3389/fgene.2020.00399DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7237723PMC

Severe skin reactions associated with cladribine in people with multiple sclerosis.

Mult Scler Relat Disord 2020 Apr 28;43:102140. Epub 2020 Apr 28.

The Blizard Institute (Neuroscience, Surgery & Trauma), Barts and The London School of Medicine and Dentistry, Queen Mary University of London, UK; Clinical Board Medicine (Neuroscience), The Royal London Hospital, Barts Health NHS Trust, London, UK. Electronic address:

Objective: To report three cases of severe skin reactions in patients treated with cladribine for multiple sclerosis.

Methods: Case study.

Results: Patients developed severe rash 3-192 days after receiving cladribine. Read More

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http://dx.doi.org/10.1016/j.msard.2020.102140DOI Listing

A rare case of pediatric recurrent rhabdomyolysis with compound heterogenous variants in the LPIN1.

BMC Pediatr 2020 May 14;20(1):218. Epub 2020 May 14.

Department of Nephrology, Children's Hospital of Nanjing Medical University, 72 Guangzhou Road, Nanjing, 210029, Jiangsu Province, China.

Background: Lipin-1, encoded by LPIN1 gene, serves as an enzyme and a transcriptional co-regulator to regulate lipid metabolism and mitochondrial respiratory chain. Autosomal recessive mutations in LPIN1 were recognized as one of the most common causes of pediatric recurrent rhabdomyolysis in western countries. However, to date, there were only a few cases reported in Asian group. Read More

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http://dx.doi.org/10.1186/s12887-020-02134-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7222443PMC
May 2020
1.918 Impact Factor

Novel GNE mutations in three Chinese patients with typical GNE myo-pathy.

J Pak Med Assoc 2020 May;70(5):913-916

Department of Neurology, Chinese PLA General Hospital, China.

GNE myopathy is an adult-onset muscle disorder featuring distal muscle atrophy and weakness. Rimmed vacuoles found in the muscle biopsies and gene mutations lead to the diagnosis of GNE myopathy. We collected clinical information, performed muscle biopsies and genetic testing on three patients. Read More

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http://dx.doi.org/10.5455/JPMA.290893DOI Listing

A late-onset congenital myasthenic syndrome due to a heterozygous DOK7 mutation.

Neuromuscul Disord 2020 Apr 23;30(4):331-335. Epub 2020 Feb 23.

Center for Predictive and Preventive Genetics (CGPP), Institute of Molecular and Cellular Biology (IBMC), Porto, Portugal; 3S - Institute of Investigation and Innovation in Health, Universidade do Porto, Porto, Portugal; UnIGENe (Unit for Genetic and Epidemiological Research in Neurological Diseases), IBMC (Institute for Molecular and Cell Biology), Universidade do Porto, Porto, Portugal.

Congenital myasthenic syndromes are disorders of the neuromuscular junction resulting from genetic defects in its components. Clinical presentations are diverse and virtually always of early onset. We report a 67-year-old female patient first presenting with episodes of sudden respiratory failure. Read More

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http://dx.doi.org/10.1016/j.nmd.2020.02.009DOI Listing

Stimulus salience determines defensive behaviors elicited by aversively conditioned serial compound auditory stimuli.

Elife 2020 Mar 27;9. Epub 2020 Mar 27.

F.M. Kirby Neurobiology Center, Boston Children's Hospital and Harvard Medical School, Boston, United States.

Assessing the imminence of threatening events using environmental cues enables proactive engagement of appropriate avoidance responses. The neural processes employed to anticipate event occurrence depend upon which cue properties are used to formulate predictions. In serial compound stimulus (SCS) conditioning in mice, repeated presentations of sequential tone (CS1) and white noise (CS2) auditory stimuli immediately prior to an aversive event (US) produces freezing and flight responses to CS1 and CS2, respectively (Fadok et al. Read More

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http://dx.doi.org/10.7554/eLife.53803DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7190350PMC

Neurologic Manifestations as Initial Clinical Presentation of Familial Hemophagocytic Lymphohistiocytosis Type2 Due to Mutation in Chinese Pediatric Patients.

Front Genet 2020 4;11:126. Epub 2020 Mar 4.

Neurology Department, National Center for Children's Health China, Beijing Children Hospital affiliated to Capital Medical University, Beijing, China.

Familial hemophagocytic lymphohistiocytosis Type 2 (FHL2) associated central nervous system (CNS) involvement is less understood in children, especially when considering neurologic manifestations as part of the initial presentation. We conducted a retrospective review of the clinical manifestations and genetic abnormality of four Han Chinese children with FHL2 who were patients at the neurology department of Beijing Children's Hospital from November 2015 to October 2018. These four patients initially manifested CNS symptoms in their disease presentation, and all four patients were misdiagnosed as having ademyelinating disease, such as acute disseminated encephalomyelitis and multiple sclerosis. Read More

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http://dx.doi.org/10.3389/fgene.2020.00126DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7064636PMC

Genotype-phenotype correlations of adult-onset PLA2G6-associated Neurodegeneration: case series and literature review.

BMC Neurol 2020 Mar 17;20(1):101. Epub 2020 Mar 17.

Department of Neurology, National Taiwan University Hospital, No. 7, Chung-Shan South Road, Taipei, 100, Taiwan.

Background: Phospholipase A2 group VI (PLA2G6) mutations associated with neurodegeneration (PLAN) manifest as heterogeneous neurodegenerative disorders with variable ages of onset. The genotype-phenotype correlation is not well-established. We aim to describe three adult patients with PLAN and combined these data with results from previous studies to elucidate adult-onset PLA2G6 phenotype-genotype correlations. Read More

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http://dx.doi.org/10.1186/s12883-020-01684-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7076921PMC

Complement factor I deficiency: A potentially treatable cause of fulminant cerebral inflammation.

Neurol Neuroimmunol Neuroinflamm 2020 May 25;7(3). Epub 2020 Feb 25.

From the Department of Paediatric Infectious Disease (T.A, S.O.), Newcastle upon Tyne Hospitals NHS Foundation Trust; Division of Infection and Immunity and Dementia Research Institute (M.T., B.P.M.), School of Medicine, Cardiff University; Department of Neuroradiology (D.M.), Newcastle upon Tyne Hospitals NHS Foundation Trust; Department of National Renal Complement Therapeutics Centre (N.S.S., D.K.), Newcastle upon Tyne Hospitals NHS Foundation Trust; Complement Therapeutics Research (N.S.S., D.K.), Translational and Clinical Research Institute, Newcastle University; Department of Paediatric Neurology (R.F.), Newcastle upon Tyne Hospitals NHS Foundation Trust; Neuroscience, Neurodisability and Neurological Disorders Groups (R.F.), Translational and Clinical Research Institute, Newcastle University, United Kingdom.

Objective: To raise awareness of complement factor I (CFI) deficiency as a potentially treatable cause of severe cerebral inflammation.

Methods: Case report with neuroradiology, neuropathology, and functional data describing the mutation with review of literature.

Results: We present a case of acute, fulminant, destructive cerebral edema in a previously well 11-year-old, demonstrating massive activation of complement pathways on neuropathology and compound heterozygote status for 2 pathogenic mutations in CFI which result in normal levels but completely abrogate function. Read More

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http://dx.doi.org/10.1212/NXI.0000000000000689DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7051217PMC

Trend of emergency department presentations with a mental health diagnosis in Australia by diagnostic group, 2004-05 to 2016-17.

Emerg Med Australas 2020 Apr 23;32(2):190-201. Epub 2020 Feb 23.

Menzies Institute for Medical Research, University of Tasmania, Hobart, Tasmania, Australia.

Objective: To examine trends of ED presentations with a mental health (MH) diagnosis in Australia and its jurisdictions by diagnostic group between 2004-05 and 2016-17.

Methods: Data comprised ED presentations with a principal diagnosis of ICD-10-AM F00-F99 (MH ) captured within the National Non-Admitted Patient Emergency Department Care Database. Trends in absolute number and rates of MH presentations per 10 000 population were assessed as differences (x-fold) and annual growth rates (average and compound). Read More

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http://dx.doi.org/10.1111/1742-6723.13451DOI Listing

Natural History of Adult Patients with GM2 Gangliosidosis.

Ann Neurol 2020 Apr 7;87(4):609-617. Epub 2020 Feb 7.

Department of Neurology, Reference Center for Lysosomal Diseases, Neuro-Genetic and Metabolism Unit, Pitié-Salpêtrière University Hospital Group (Assistance publique Hôpitaux de Paris (AP-HP)), Paris.

Objective: GM2 gangliosidoses are lysosomal diseases due to biallelic mutations in the HEXA (Tay-Sachs disease [TS]) or HEXB (Sandhoff disease [SD]) genes, with subsequent low hexosaminidase(s) activity. Most patients have childhood onset, but some experience the first symptoms during adolescence/adulthood. This study aims to clarify the natural history of adult patients with GM2 gangliosidosis. Read More

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http://dx.doi.org/10.1002/ana.25689DOI Listing

Frontal variant of Alzheimer's disease with asymmetric presentation mimicking frontotemporal dementia: Case report and literature review.

Brain Behav 2020 Mar 27;10(3):e01548. Epub 2020 Jan 27.

Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan.

Introduction: Frontal variant of Alzheimer's disease (fvAD) is a rare nonamnestic syndrome of Alzheimer's disease (AD). Differentiating it from behavior variant of frontotemporal dementia (bvFTD), which has implications for treatment responses and prognosis, remains a clinical challenge.

Methods: Molecular neuroimaging and biofluid markers were performed for the index patient for accurate premortem diagnosis of fvAD. Read More

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http://dx.doi.org/10.1002/brb3.1548DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7066333PMC

Targeted Next Generation Sequencing for Genetic Mutations of Dilated Cardiomyopathy.

Acta Cardiol Sin 2019 Nov;35(6):571-584

Department of Cardiology.

Background: Approximately one-third of cases of dilated cardiomyopathy (DCM) are caused by genetic mutations. With new sequencing technologies, numerous variants have been associated with this inherited cardiomyopathy, however the prevalence and genotype-phenotype correlations in different ethnic cohorts remain unclear. This study aimed to investigate the variants in Chinese DCM patients and correlate them with clinical presentations and prognosis. Read More

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http://dx.doi.org/10.6515/ACS.201911_35(6).20190402ADOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6859096PMC
November 2019

Palmoplantar keratoderma, oral involvement, and homozygous CTSC mutation in two brothers from Cambodia.

Am J Med Genet A 2020 02 17;182(2):296-302. Epub 2019 Dec 17.

Research Laboratory, KK Women's & Children's Hospital, Singapore.

Haim-Munk syndrome (HMS) and Papillon-Lefevre syndrome (PLS) are phenotypic variants of palmoplantar keratoderma (PPK) with progressive early-onset periodontitis and dental caries. HMS and PLS have been associated with homozygous or compound heterozygous mutations in the lysosomal protease gene Cathepsin C (CTSC). There have been only a few documented cases of CTSC mutations in patients from South-East Asia. Read More

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http://dx.doi.org/10.1002/ajmg.a.61447DOI Listing
February 2020

Monozygotic twins discordant for congenital adrenal hyperplasia due to mosaicism.

Eur J Endocrinol 2020 Feb;182(2):K7-K13

Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.

Introduction: Genotype-phenotype discordance occurs occasionally in congenital adrenal hyperplasia (CAH). Its causes are largely unknown. We describe a case of monochorionic, diamniotic twins with discordant clinical presentations of CAH, and show evidence for this being due to mosaicism resulting from a postzygotic full gene deletion of CYP21A2 prior to twinning. Read More

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http://dx.doi.org/10.1530/EJE-19-0249DOI Listing
February 2020

A Novel Variant Identified by Exome Sequencing in a Patient with Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome.

Pediatr Gastroenterol Hepatol Nutr 2019 Nov 11;22(6):581-587. Epub 2019 Nov 11.

Department of Pediatrics, Korea University College of Medicine, Seoul, Korea.

Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare autosomal recessive multisystemic disease that is associated with the liver, kidney, skin, and central nervous and musculoskeletal systems. ARC occurs as a result of mutations in the (Vacuolar protein sorting 33 homolog B) or (VPS33B interacting protein, apical-basolateral polarity regulator) genes. A female infant presented with neonatal cholestasis with a severe clinical outcome. Read More

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http://dx.doi.org/10.5223/pghn.2019.22.6.581DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6856508PMC
November 2019

Compound Kushen Injection for gastric cancer: A protocol of systematic review and meta-analysis.

Medicine (Baltimore) 2019 Nov;98(45):e17927

Donggang Branch of The First Hospital of Lanzhou University, Lanzhou, China.

Background And Aims: In recent years, the clinical research about Compound Kushen Injection (CKI) treatment of Gastric cancer (GC) has been increased, but the conclusion is different. The aim of our study is to objective comment the efficacy and adverse effects of CKI treatment of GC.

Methods: We will retrieve the Randomized controlled trials from the following 6 electronic databases on their inception to April 2019: PubMed, Embase, Cochrane Library, China National Knowledge Infrastructure, Wangfang and Chinese Biomedical Literature Database. Read More

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http://dx.doi.org/10.1097/MD.0000000000017927DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6855605PMC
November 2019

Developmental Regression and Epilepsy of Infancy with Migrating Focal Seizures Caused by TBCD Mutation: A Case Report and Review of the Literature.

Neuropediatrics 2020 02 30;51(1):68-71. Epub 2019 Sep 30.

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

Microtubule dynamics plays a crucial role in neuronal development and function. Variants in the tubulin cofactor D () gene, which encodes one of the five co-chaperones required for assembly and disassembly of α/β-tubulin heterodimers, may lead to neurodevelopmental disorders. We aimed to study the clinical, electroencephalographic, and imaging features of a male patient with variants, and to provide a detailed review of the previously reported cases of -related neurological disorders. Read More

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http://dx.doi.org/10.1055/s-0039-1698423DOI Listing
February 2020
2 Reads

Familial mediterranean fever: assessment of clinical manifestations, pregnancy, genetic mutational analyses, and disease severity in a national cohort.

Rheumatol Int 2020 Jan 14;40(1):29-40. Epub 2019 Sep 14.

Faculty of Medicine, Department of Physical Medicine and Rehabilitation Rheumatology Clinic, Akdeniz University, Antalya, Turkey.

The aims of this study were to investigate the main clinical and laboratory features, including pregnancy and genetic analysis, of Turkish Familial Mediterranean Fever (FMF) patients and to analyze the relationships between genotypic features, age of disease onset, clinical findings, and disease severity. A study was planned within a national network of 22 different centers. Demographics, clinical and laboratory findings, attack characteristics, drugs, pregnancy and birth history, disease severity, and gene mutation analyses were evaluated. Read More

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http://dx.doi.org/10.1007/s00296-019-04443-0DOI Listing
January 2020
4 Reads
1.627 Impact Factor

VOC biomarkers identification and predictive model construction for lung cancer based on exhaled breath analysis: research protocol for an exploratory study.

BMJ Open 2019 08 8;9(8):e028448. Epub 2019 Aug 8.

Research Center of Analytical Instrumentation, The College of Life Sciences, Sichuan University, Chengdu, China.

Introduction: Lung cancer is the most common cancer and the leading cause of cancer death in China, as well as in the world. Late diagnosis is the main obstacle to improving survival. Currently, early detection methods for lung cancer have many limitations, for example, low specificity, risk of radiation exposure and overdiagnosis. Read More

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http://dx.doi.org/10.1136/bmjopen-2018-028448DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6701581PMC
August 2019
3 Reads

A Japanese case of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency who presented with severe metabolic acidosis and fatty liver without hypoglycemia.

JIMD Rep 2019 Jul 3;48(1):19-25. Epub 2019 Jun 3.

Department of Pediatrics Graduate School of Medicine, Gifu University Gifu Japan.

Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency (mHS deficiency) is a rare autosomal recessive inborn error of ketogenesis caused by a mutation in the gene, which is characterized by non-(hypo)-ketotic hypoglycemia, lethargy, and hepatomegaly during acute infection and/or prolonged fasting. Clinical presentations are similar to fatty acid oxidation defects; however, diagnosis of mHS deficiency is difficult because of poor biochemical markers. We report the case of a 12-month-old Japanese boy with mHS deficiency who presented with a coma, and hepatomegaly, but no hypoglycemia after a febrile episode and poor oral intake. Read More

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http://dx.doi.org/10.1002/jmd2.12051DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6606983PMC
July 2019
2 Reads

Molecular docking based screening analysis of GSK3B.

Bioinformation 2019 15;15(3):201-208. Epub 2019 Mar 15.

Centre for Biocomputing and Drug Discovery, Adekunle Ajasin University, Nigeria.

GSK3B has been an interesting drug target in the pharmaceutical industry. Its dysfunctional expression has prognostic significance in the top 3 cause of death associated with non-communicable diseases (cancer, Alzheimer's disease and type 2 diabetes). Previous studies have shown clearly that inhibiting GSK3B has proven therapeutic significance in Alzheimer's disease, but its contribution to various cancers has not been clearly resolved. Read More

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http://dx.doi.org/10.6026/97320630015201DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6637402PMC
March 2019
2 Reads

The Conditions under Which Consolidation of Serial-Order Conditioned Fear Requires Protein Synthesis in the Basolateral Amygdala Complex.

J Neurosci 2019 09 24;39(37):7357-7368. Epub 2019 Jul 24.

School of Psychology, University of New South Wales, Sydney, 2052 New South Wales, Australia

Consolidation of conditioned fear to a stimulus (S1) paired with shock requires protein synthesis in the basolateral amygdala complex (BLA), whereas consolidation of conditioned fear to a stimulus (S2) paired with the fear-eliciting S1 requires DNA methylation but not protein synthesis in the BLA. The present experiments merged these protocols by exposing rats to pairings of a serial S2-S1 compound and shock to examine if/when protein synthesis in the BLA is required to consolidate fear to S2. Rats received a BLA infusion of the protein synthesis inhibitor, cycloheximide, immediately after the S2-S1-shock session and were subsequently tested with S2. Read More

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http://dx.doi.org/10.1523/JNEUROSCI.0768-19.2019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6759024PMC
September 2019
5 Reads

Oral manifestations of illicit drug use.

Aust Dent J 2019 09 30;64(3):213-222. Epub 2019 Jul 30.

Melbourne Dental School, The University of Melbourne, Carlton, Victoria, Australia.

The use of illicit and misuse of licit drugs is a global public health problem, with illicit drug use being responsible for 1.8% of the total disease burden in Australia in 2011. Oral adverse effects associated with illicit drug use are well-established, with aggressive caries, periodontitis, bruxism, poor oral hygiene and general neglect documented. Read More

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http://dx.doi.org/10.1111/adj.12709DOI Listing
September 2019
3 Reads

Identification of Cellular Pathogenicity Markers for SIL1 Mutations Linked to Marinesco-Sjögren Syndrome.

Front Neurol 2019 14;10:562. Epub 2019 Jun 14.

Institute of Neuropathology, RWTH Aachen University Hospital, Aachen, Germany.

Recessive mutations in the gene cause Marinesco-Sjögren syndrome (MSS), a rare neuropediatric disorder. MSS-patients typically present with congenital cataracts, intellectual disability, cerebellar ataxia and progressive vacuolar myopathy. However, atypical clinical presentations associated with mutations have been described over the last years; compound heterozygosity of SIL1 missense mutations even resulted in a phenotype not fulfilling the clinical diagnostic criteria of MSS. Read More

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http://dx.doi.org/10.3389/fneur.2019.00562DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6587064PMC
June 2019
8 Reads

Differential magnocellular versus parvocellular pathway contributions to the combinatorial processing of facial threat.

Prog Brain Res 2019 23;247:71-87. Epub 2019 Apr 23.

Athinoula A. Martinos Center for Biomedical Imaging, Massachusetts General Hospital, Harvard Medical School, Charlestown, MA, United States.

Recently, speed of presentation of facially expressive stimuli was found to influence the processing of compound threat cues (e.g., anger/fear/gaze). Read More

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http://dx.doi.org/10.1016/bs.pbr.2019.03.006DOI Listing
March 2020
6 Reads

Kawasaki disease and familial mediterranean fever gene mutations, is there any link?

Open Access Rheumatol 2019 21;11:127-131. Epub 2019 May 21.

Pediatric Department, Bouali Children's Hospital, Ardabil University of Medical Sciences (ARUMS), Ardabil, Iran.

Kawasaki disease (KD) is an acute febrile, self-limiting, and systemic vasculitis of unknown etiology. MEFV gene has a major role in autoinflammatory disorders and innate immune reactions. Several reports revealed that MEFV gene mutations are associated with systemic vasculitis. Read More

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http://dx.doi.org/10.2147/OARRR.S202217DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6535441PMC
May 2019
5 Reads

A Malonyl-Based Scaffold for Conjugatable Multivalent Carbohydrate-BODIPY Presentations.

Molecules 2019 May 29;24(11). Epub 2019 May 29.

Instituto de Química Orgánica General, Consejo Superior de Investigaciones Científicas (IQOG-CSIC), Juan de la Cierva 3, 28006 Madrid, Spain.

A concise synthetic route from methylmalonate to a tetravalent aliphatic scaffold has been developed. The ensuing tetra-tethered derivative is equipped with two hydroxyl groups, as well as orthogonal alkene and alkyne functionalities. The usefulness of the scaffold has been demonstrated with the preparation of two representative multivalent derivatives: (i) a tetravalent compound containing two D-mannose units, one fluorescent boron-dipyrromethene (BODIPY) dye and a suitably functionalized amino acid and (ii) by way of dimerization and saponification, a water-soluble tetramannan derivative containing two fluorescent BODIPY units. Read More

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http://dx.doi.org/10.3390/molecules24112050DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6600552PMC
May 2019
14 Reads

New perspectives for reassessing fosfomycin: applicability in current clinical practice.

Rev Esp Quimioter 2019 May;32 Suppl 1:1-7

Francisco Javier Candel González. Enfermedades Infecciosas. Microbiología Clínica. Instituto de Investigación sanitaria San Carlos (IdIISC). Instituto de Medicina de Laboratorio (IML). Hospital Clínico San Carlos. Universidad Complutense de Madrid, Spain.

Fosfomycin is a bactericidal antibiotic that interferes with cell wall synthesis. The drug therefore has a broad spectrum of activity against a wide range of Gram-positive and Gram-negative bacteria. Both the European Medicines Agency (EMA) and the US Food and Drug Administration (FDA) have started review processes of the accumulated information on the use of fosfomycin and on information from new clinical trials. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6555164PMC
May 2019
15 Reads

Compound Heterozygote for a Novel Elongated C-Terminal β-Globin Variant (: c.364delG) and Hb E (: c.79G>A) with Heterozygous α-Thalassemia-2.

Hemoglobin 2019 Jan 20;43(1):52-55. Epub 2019 May 20.

c Thalassemia Research Center, Institute of Molecular Biosciences, Mahidol University , Nakhon Pathom , Thailand.

This study reports the case of 2-year-old Northeastern Thai girl with β-thalassemia (β-thal) disease who has required regular blood transfusions since she was 8 months old. Hemoglobin (Hb) analysis by high performance liquid chromatography (HPLC) separated Hb A/E (16.5%), Hb F (22. Read More

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http://dx.doi.org/10.1080/03630269.2019.1599907DOI Listing
January 2019
6 Reads

Expansion of the clinical spectrum associated with AARS2-related disorders.

Am J Med Genet A 2019 08 17;179(8):1556-1564. Epub 2019 May 17.

Department of Neurogenetics, Hugo W. Moser Research Institute at Kennedy Krieger Institute, Baltimore, Maryland.

Biallelic pathogenic variants in AARS2, a gene encoding the mitochondrial alanyl-tRNA synthetase, result in a spectrum of findings ranging from infantile cardiomyopathy to adult-onset progressive leukoencephalopathy. In this article, we present three unrelated individuals with novel compound heterozygous pathogenic AARS2 variants underlying diverse clinical presentations. Patient 1 is a 51-year-old man with adult-onset progressive cognitive, psychiatric, and motor decline and leukodystrophy. Read More

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http://dx.doi.org/10.1002/ajmg.a.61188DOI Listing
August 2019
7 Reads

Distinct clinical, neuroimaging and genetic profiles of late-onset cobalamin C defects (cb1C): a report of 16 Chinese cases.

Orphanet J Rare Dis 2019 05 15;14(1):109. Epub 2019 May 15.

Department of Neurology, Xuanwu Hospital, Capital Medical University, 45 Changchun Street, Xicheng District, Beijing, 100053, People's Republic of China.

Objective: The importance of late-onset cobalamin C (cblC) disorder is underestimated in adults. Improved awareness on its clinical and neuroimaging features helps timely diagnosis and appropriate treatment.

Methods: Totally 16 late-onset cblC cases were diagnosed based on clinical, biochemical findings and MMAHC gene mutation analysis. Read More

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https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1
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http://dx.doi.org/10.1186/s13023-019-1058-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6521494PMC
May 2019
28 Reads

Compound Muscle Action Potential Amplitude Predicts the Severity of Cubital Tunnel Syndrome.

J Bone Joint Surg Am 2019 Apr;101(8):730-738

Division of Plastic and Reconstructive Surgery, Department of Surgery, Washington University School of Medicine, St. Louis, Missouri.

Background: Cubital tunnel syndrome has a spectrum of presentations ranging from mild paresthesias to debilitating numbness and intrinsic atrophy. Commonly, the classification of severity relies on clinical symptoms and slowing of conduction velocity across the elbow. However, changes in compound muscle action potential (CMAP) amplitude more accurately reflect axonal loss. Read More

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http://dx.doi.org/10.2106/JBJS.18.00554DOI Listing
April 2019
35 Reads

Butoxy Mansonone G Inhibits STAT3 and Akt Signaling Pathways in Non-Small Cell Lung Cancers: Combined Experimental and Theoretical Investigations.

Cancers (Basel) 2019 Mar 28;11(4). Epub 2019 Mar 28.

Structural and Computational Biology Research Unit, Department of Biochemistry, Faculty of Science, Chulalongkorn University, Pathumwan, Bangkok 10330, Thailand.

Epidermal growth factor receptor (EGFR) is the key molecular target for non-small cell lung cancer (NSCLC) due to its major contribution to complex signaling cascades modulating the survival of cancer cells. Targeting EGFR-mediated signaling pathways has been proved as a potential strategy for NSCLC treatment. In the present study, mansonone G (MG), a naturally occurring quinone-containing compound, and its semi-synthetic ether derivatives were subjected to investigate the anticancer effects on human NSCLC cell lines expressing wild-type EGFR (A549) and mutant EGFR (H1975). Read More

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http://dx.doi.org/10.3390/cancers11040437DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6521096PMC
March 2019
25 Reads

Two novel variants in the ATM gene causing ataxia-telangiectasia, including a duplication of 90 kb: Utility of targeted next-generation sequencing in detection of copy number variation.

Ann Hum Genet 2019 07 19;83(4):266-273. Epub 2019 Mar 19.

Department of Biomedical Diagnostics, Hospital San Pedro, Logroño, Spain.

Ataxia-telangiectasia (A-T) is a rare autosomal recessive neurodegenerative disorder characterized by progressive cerebellar ataxia, ocular apraxia, immunodeficiency, telangiectasia, elevated serum α-fetoprotein concentration, radiosensitivity and cancer predisposition. Classical A-T is caused by biallelic variants on ATM (ataxia telangiectasia mutated) gene, leading to a loss of function of the protein kinase ATM, involved in DNA damage repair. Atypical presentations can be found in A-T-like disease or in Nijmegen breakage syndrome, caused by deficiency of mre11 or nibrin proteins, respectively. Read More

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http://dx.doi.org/10.1111/ahg.12312DOI Listing
July 2019
18 Reads

Clinical feature and outcome of late-onset cobalamin C disease patients with neuropsychiatric presentations: a Chinese case series.

Neuropsychiatr Dis Treat 2019 21;15:549-555. Epub 2019 Feb 21.

Department of Neurology, Qilu Hospital, Shandong University, Jinan, China,

Objective: The Cobalamin C (cblC) disease is an inborn error of cobalamin metabolism. Late-onset cblC disease was diagnosed in patients having overt symptoms after 4 years of age. The late-onset cblC disease patients were rare and easily misdiagnosed. Read More

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http://dx.doi.org/10.2147/NDT.S196924DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6391119PMC
February 2019
8 Reads

Assessment of breath volatile organic compounds in acute cardiorespiratory breathlessness: a protocol describing a prospective real-world observational study.

BMJ Open 2019 03 8;9(3):e025486. Epub 2019 Mar 8.

Department of Respiratory Sciences, College of Life Sciences, University of Leicester, Leicester, UK.

Introduction: Patients presenting with acute undifferentiated breathlessness are commonly encountered in admissions units across the UK. Existing blood biomarkers have clinical utility in distinguishing patients with single organ pathologies but have poor discriminatory power in multifactorial presentations. Evaluation of volatile organic compounds (VOCs) in exhaled breath offers the potential to develop biomarkers of disease states that underpin acute cardiorespiratory breathlessness, owing to their proximity to the cardiorespiratory system. Read More

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http://bmjopen.bmj.com/lookup/doi/10.1136/bmjopen-2018-02548
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http://dx.doi.org/10.1136/bmjopen-2018-025486DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6429860PMC
March 2019
16 Reads

Targeting avoidance via compound extinction.

Cogn Emot 2019 11 5;33(7):1523-1530. Epub 2019 Mar 5.

a Department of Clinical Psychology, Utrecht University , Utrecht , the Netherlands.

Avoidance towards innocuous cues is a key diagnostic criterion across anxiety-related disorders. Importantly, the most effective intervention for anxiety-related disorders, exposure therapy with response prevention, sometimes does not prevent the relapse of anxiety's symptomatology. We tested whether extinction effects, the experimental proxy of exposure, are enhanced by increasing the discrepancy between the prediction of an unpleasant event happening (shock presentation), and the actual event (shock omission). Read More

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http://dx.doi.org/10.1080/02699931.2019.1573718DOI Listing
November 2019
18 Reads

Pine tar callus: A mimicker of a melanocytic lesion.

Pediatr Dermatol 2019 May 27;36(3):379-380. Epub 2019 Feb 27.

Northwestern University Feinberg School of Medicine, Chicago, Illinois.

We report a case of acral pigmented lesions due to pine tar, a common compound used on baseball bats to improve grip, deposition. The patient presented with an acute concern for a new melanocytic lesion, and dermoscopy revealed large brown globules, not typical of melanocytic neoplasms. We propose that the coupling of dermoscopy and a thorough clinical history of exogenous exposures in similar clinical presentations can provide reassurance in evaluating atypical appearing pigmented lesions. Read More

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http://dx.doi.org/10.1111/pde.13773DOI Listing
May 2019
6 Reads

An enemy hides in the ceiling; pediatric traumatic brain injury caused by metallic ceiling fan: Case series and literature review.

Br J Neurosurg 2019 Jun 18;33(3):360-364. Epub 2019 Feb 18.

d Department of Neurosurgery , Tokyo Women's Medical University Medical Center East , Tokyo , Japan.

We report a series of 29 pediatric patients who sustained head injuries due to metallic ceiling fans. They all were admitted to the Emergency Department of Neurosurgery Teaching Hospital in Baghdad, Iraq, during January 2015 to January 2017. Pediatric ceiling fan head injuries are characterized by four traits which distinguish them from other types of head injuries; 1- Most of them were because of climbing on or jumping from furniture between the ages of two and five. Read More

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http://dx.doi.org/10.1080/02688697.2019.1573312DOI Listing
June 2019
31 Reads
0.947 Impact Factor

Characterization and treatment of congenital thrombotic thrombocytopenic purpura.

Blood 2019 04 15;133(15):1644-1651. Epub 2019 Feb 15.

Department of Haematology, University College London Hospital (UCLH), London, United Kingdom.

Congenital thrombotic thrombocytopenic purpura (cTTP) is an ultra-rare thrombomicroangiopathy caused by an inherited deficiency of a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13 (ADAMTS13). There are limited data on genotype-phenotype correlation; there is no consensus on treatment. We reviewed the largest cohort of cTTP cases, diagnosed in the United Kingdom, over the past 15 years. Read More

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http://www.bloodjournal.org/lookup/doi/10.1182/blood-2018-11
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http://dx.doi.org/10.1182/blood-2018-11-884700DOI Listing
April 2019
42 Reads

Recurrent Encephalopathy with Spinal Cord Involvement: An Atypical Manifestation of Aicardi-Goutières Syndrome.

Ann Indian Acad Neurol 2019 Jan-Mar;22(1):111-115

Division of Neuroradiology and Pediatric Radiology, University of Arkansas For Medical Sciences, Little Rock, Arkansas, USA.

Aicardi-Goutières syndrome (AGS) is a rare, genetic inflammatory disease due to mutations in any of the seven genes discovered to date (, and ). Clinical onset is seen most commonly or in infancy; irritability, feeding difficulties, jitteriness, microcephaly, abnormal movements, seizures, bone marrow suppression, and liver dysfunction are seen either during the neonatal age group or within the first few months of life with abrupt onset of neurologic regression and slowing of head growth. Diffusely abnormal white matters with swelling of frontal or temporal lobes, cerebral atrophy, and intracranial calcification are typical neuroradiologic abnormalities. Read More

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http://dx.doi.org/10.4103/aian.AIAN_12_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6327704PMC
January 2019
7 Reads

Two novel variants in gene: a major contributor of autosomal recessive primary congenital glaucoma with allelic heterogeneity in Pakistani patients.

Int J Ophthalmol 2019 18;12(1):8-15. Epub 2019 Jan 18.

Molecular Biology and Genetics Department, Liaquat University of Medical and Health Sciences, Jamshoro, Sindh 76090, Pakistan.

Aim: To find the mutations associated with primary congenital glaucoma (PCG) in Pakistani consanguineous pedigrees.

Methods: After getting informed consent, 11 consanguineous pedigrees belonging to different ethnic groups were enrolled. Detailed medical history was recorded and pedigrees were drawn. Read More

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http://www.ijo.cn/gjyken/ch/reader/view_abstract.aspx?file_n
Publisher Site
http://dx.doi.org/10.18240/ijo.2019.01.02DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6326927PMC
January 2019
44 Reads
0.500 Impact Factor

A NGS-Targeted Autism/ID Panel Reveals Compound Heterozygous GNB5 Variants in a Novel Patient.

Front Genet 2018 12;9:626. Epub 2018 Dec 12.

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

Homozygous and compound heterozygous pathogenic variants in have been recently associated with a spectrum of clinical presentations varying from a severe multisystem form of the disorder including intellectual disability, early infantile developmental and epileptic encephalopathy, retinal abnormalities and cardiac arrhythmias (IDDCA) to a milder form with language delay, attention-deficit/hyperactivity disorder, cognitive impairment, with or without cardiac arrhythmia (LADCI). Approximately twenty patients have been described so far; here we report a novel case of a 2.5-year-old female who is a compound heterozygote for a frameshift and a missense variant in the gene. Read More

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http://dx.doi.org/10.3389/fgene.2018.00626DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6315145PMC
December 2018
8 Reads

Reversal of DIRECT-ACTING Oral Anticoagulants in Urgent Surgery of the Proximal Aorta: case Series and Review of the literature.

Curr Pharm Des 2018 ;24(38):4534-4539

Department of Cardiothoracic Surgery, Weill Cornell Medicine, NewYork Presbyterian, New York, NY, United States.

Introduction: Proximal aorta interventions impose significant bleeding risk. Patients on concomitant anticoagulation regimens compound the risk of bleeding in any surgery, but especially cardiothoracic interventions. The employment of direct-acting oral anticoagulants (DOAC), namely those that target clotting factors II or X, has expanded at a precipitous rate over the last decade. Read More

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http://dx.doi.org/10.2174/1381612825666181226150006DOI Listing
November 2019
11 Reads
3.452 Impact Factor

Effect of Assorted Globin Haplotypes and α-Thalassemia on the Clinical Heterogeneity of Hb S-β-Thalassemia.

Hemoglobin 2018 Jul 29;42(4):236-242. Epub 2018 Nov 29.

e Department of Haematogenetics , National Institute of Immuno-Haematology , Parel, Mumbai , India.

Hemoglobinopathies and thalassemias are the most commonly encountered monogenic disorders of blood in humans, posing a major genetic and public health problem round the globe. Hb S (HBB: c.20A>T)-β-thalassemia (β-thal) is a compound aberrant heterozygosity with inconsistent phenotypic expression, which are poorly described and clinically mapped. Read More

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http://dx.doi.org/10.1080/03630269.2018.1536666DOI Listing
July 2018
14 Reads
0.955 Impact Factor