364 results match your criteria Compound Presentations


Characterization and treatment of congenital thrombotic thrombocytopenic purpura.

Blood 2019 Feb 15. Epub 2019 Feb 15.

Department of Haematology, University College London Hospital, London, United Kingdom.

Congenital Thrombotic Thrombocytopenic Purpura (cTTP) is an ultra rare thrombomicroangiopathy caused by an inherited deficiency of ADAMTS13. There is limited data on the genotype-phenotype correlation and no consensus on treatment. We reviewed the largest cohort of cTTP cases, diagnosed in the UK, over the past 15 years. Read More

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http://dx.doi.org/10.1182/blood-2018-11-884700DOI Listing
February 2019

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
2 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
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http://dx.doi.org/10.18240/ijo.2019.01.02DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6326927PMC
January 2019
4 Reads

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
1 Read

Reversal Of Direct-Acting Oral Anticoagulants In Urgent Surgery Of The Proximal Aorta: Case Series And Review Of The Literature.

Curr Pharm Des 2018 Dec 26. Epub 2018 Dec 26.

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
December 2018

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
4 Reads

Recessive multiple epiphyseal dysplasia - Clinical characteristics caused by rare compound heterozygous SLC26A2 genotypes.

Eur J Med Genet 2018 Nov 10. Epub 2018 Nov 10.

Folkhälsan Institute of Genetics and University of Helsinki, Helsinki, Finland; Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden. Electronic address:

Pathogenic sequence variants in the solute carrier family 26 member 2 (SLC26A2) gene result in lethal (achondrogenesis Ib and atelosteogenesis II) and non-lethal (diastrophic dysplasia and recessive multiple epiphyseal dysplasia, rMED) chondrodysplasias. We report on two new patients with rMED and very rare compound heterozygous mutation combinations in non-consanguineous families. Patient I presented in childhood with waddling gait and joint stiffness. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183018
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http://dx.doi.org/10.1016/j.ejmg.2018.11.007DOI Listing
November 2018
15 Reads

Novel presentations of periodic fever syndromes: Discrepancies between genetic and clinical diagnoses.

Eur J Rheumatol 2018 Nov 6:1-7. Epub 2018 Nov 6.

Dartmouth-Hitchcock Medical Center, Geisel School of Medicine at Dartmouth, New Hampshire, USA.

Objective: The Periodic fever syndromes (PFS) are a group of disorders of the innate immune system. We investigated patients diagnosed with PFS at the Dartmouth Hitchcock Pediatric Rheumatology Clinic.

Methods: Case acquisition was performed by reviewing ICD 9/10 coded records for familial Mediterranean fever (ICD 9 277. Read More

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http://www.eurjrheumatol.org/eng/makale/3146/195/Full-Text
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http://dx.doi.org/10.5152/eurjrheum.2018.18023DOI Listing
November 2018
8 Reads

TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants.

Genet Med 2018 Sep 24. Epub 2018 Sep 24.

Department of Pediatrics, University of Washington, Seattle, Washington, USA.

Purpose: TANGO2-related disorders were first described in 2016 and prior to this publication, only 15 individuals with TANGO2-related disorder were described in the literature. Primary features include metabolic crisis with rhabdomyolysis, encephalopathy, intellectual disability, seizures, and cardiac arrhythmias. We assess whether genotype and phenotype of TANGO2-related disorder has expanded since the initial discovery and determine the efficacy of exome sequencing (ES) as a diagnostic tool for detecting variants. Read More

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http://dx.doi.org/10.1038/s41436-018-0137-yDOI Listing
September 2018
5 Reads

Bimodal Patterning Discrimination in Harnessed Honey Bees.

Front Psychol 2018 24;9:1529. Epub 2018 Aug 24.

Department of Physiology and Biophysics, Federal University of Minas Gerais, Belo Horizonte, Brazil.

In natural environments, stimuli and events learned by animals usually occur in a combination of more than one sensory modality. An important problem in experimental psychology has been thus to understand how organisms learn about multimodal compounds and how they discriminate this compounds from their unimodal constituents. Here we tested the ability of honey bees to learn bimodal patterning discriminations in which a visual-olfactory compound (AB) should be differentiated from its visual (A) and olfactory (B) elements. Read More

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https://www.frontiersin.org/article/10.3389/fpsyg.2018.01529
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http://dx.doi.org/10.3389/fpsyg.2018.01529DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6117423PMC
August 2018
4 Reads

Phenotypic variability of Niemann-Pick disease type C including a case with clinically pure schizophrenia: a case report.

BMC Neurol 2018 Aug 17;18(1):117. Epub 2018 Aug 17.

Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi, 187-8551, Kodaira, Tokyo, Japan.

Background: Niemann-Pick disease type C (NPC) is a lysosomal storage disorder with severe prognosis. Disease-specific therapy is crucial to prevent disease progression; however, diagnosing NPC is quite difficult because of remarkably variable clinical presentations. The NPC Suspicion Index (NPC-SI) was developed to overcome this problem. Read More

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https://bmcneurol.biomedcentral.com/articles/10.1186/s12883-
Publisher Site
http://dx.doi.org/10.1186/s12883-018-1124-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6098631PMC
August 2018
33 Reads

Is Curcumin a Possibility to Treat Inflammatory Bowel Diseases?

J Med Food 2018 Nov 29;21(11):1077-1085. Epub 2018 Jun 29.

3 Department of Gastroenterology, University Hospital , ABHU-UNIMAR, Marília, São Paulo, Brazil .

The inflammatory bowel diseases (IBDs) are mainly represented by Crohn's disease and Ulcerative colitis that are characterized by chronic and relapsing inflammatory processes of the gastrointestinal system. Curcuma longa L. is a plant with several medicinal properties, including anti-inflammatory effects, and curcumin is the most important compound derived from its rhizomes. Read More

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http://dx.doi.org/10.1089/jmf.2017.0146DOI Listing
November 2018
6 Reads

Characterization of Heterozygous Mutations in Taiwanese Patients With Cerebral Small Vessel Disease.

Stroke 2018 Jul 12;49(7):1593-1601. Epub 2018 Jun 12.

From the Departments of Neurology (Y.-C.L., C.-P.C., N.-C.C., J.-L.F., B.-W.S., Y.-C.L.)

Background And Purpose: Homozygous and compound heterozygous mutations in the high temperature requirement serine peptidase A1 gene () cause cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy. However, heterozygous mutations were recently identified to be associated with autosomal dominant cerebral small vessel disease (SVD). The present study aims at investigating the clinical features, frequency, and spectrum of mutations in a Taiwanese cohort with SVD. Read More

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http://dx.doi.org/10.1161/STROKEAHA.118.021283DOI Listing
July 2018
27 Reads

Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3.

Am J Hum Genet 2018 06 24;102(6):1115-1125. Epub 2018 May 24.

Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin 9054, New Zealand. Electronic address:

Spondylocarpotarsal synostosis syndrome (SCTS) is characterized by intervertebral fusions and fusion of the carpal and tarsal bones. Biallelic mutations in FLNB cause this condition in some families, whereas monoallelic variants in MYH3, encoding embryonic heavy chain myosin 3, have been implicated in dominantly inherited forms of the disorder. Here, five individuals without FLNB mutations from three families were hypothesized to be affected by recessive SCTS on account of sibling recurrence of the phenotype. Read More

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http://dx.doi.org/10.1016/j.ajhg.2018.04.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992117PMC
June 2018
7 Reads

Recombination activity of human recombination-activating gene 2 (RAG2) mutations and correlation with clinical phenotype.

J Allergy Clin Immunol 2019 Feb 18;143(2):726-735. Epub 2018 Jun 18.

Pediatric Department A and the Immunology Service, "Edmond and Lily Safra" Children's Hospital, Jeffrey Modell Foundation Center, Sheba Medical Center, Tel Hashomer, Ramat-Gan and Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel. Electronic address:

Background: Mutations in recombination-activating gene (RAG) 1 and RAG2 are associated with a broad range of clinical and immunologic phenotypes in human subjects.

Objective: Using a flow cytometry-based assay, we aimed to measure the recombinase activity of naturally occurring RAG2 mutant proteins and to correlate our results with the severity of the clinical and immunologic phenotype.

Methods: Abelson virus-transformed Rag2 pro-B cells engineered to contain an inverted green fluorescent protein (GFP) cassette flanked by recombination signal sequences were transduced with retroviruses encoding either wild-type or 41 naturally occurring RAG2 variants. Read More

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http://dx.doi.org/10.1016/j.jaci.2018.04.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6295349PMC
February 2019
17 Reads

Choroidal infarction following ophthalmic artery chemotherapy.

Int J Retina Vitreous 2018 30;4:16. Epub 2018 Apr 30.

1Ophthalmic Oncology Service, Memorial Sloan Kettering Cancer Center, 1275 York Ave, Room A330, New York, NY 10065 USA.

Background: Methylenetetrahydrofolate reductase (MTHFR) genetic mutations and intra-procedural inhaled nitrous oxide (NO) independently increase blood levels of homocysteine, a compound associated with thrombosis. Patients with MTHFR mutations who also receive NO during ophthalmic artery chemotherapy (OAC) for retinoblastoma may have a heightened thrombotic risk.

Case Presentations: Single-center retrospective review of pediatric patients with advanced retinoblastoma who received OAC and developed choroidal infarcts. Read More

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https://journalretinavitreous.biomedcentral.com/articles/10.
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http://dx.doi.org/10.1186/s40942-018-0119-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5925835PMC
April 2018
6 Reads

Haemochromatosis: a clinical update for the practising physician.

Intern Med J 2018 05;48(5):509-516

School of Medicine, The University of Queensland, Brisbane, Queensland, Australia.

Haemochromatosis is most commonly due to the autosomal recessive inheritance of a C282Y substitution in the HFE protein, whereby both alleles of the corresponding gene are affected. The disease is characterised by an inappropriate increase in intestinal iron absorption due to reduced expression of the iron regulatory protein, hepcidin. Progressive iron deposition in parenchymal tissues may ultimately lead to liver and other organ toxicity. Read More

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http://dx.doi.org/10.1111/imj.13784DOI Listing
May 2018
1 Read

Synthetic drug intoxication in children: recognition and management in the emergency department [digest].

Pediatr Emerg Med Pract 2018 May 1;15(Suppl 5):1-2. Epub 2018 May 1.

Pediatric Emergency Medicine Ultrasound Fellow, Department of Emergency Medicine, Stanford University School of Medicine, Lucile Packard Children's Hospital, Palo Alto, CA.

When children and adolescents present to the emergency department with agitation or mental status changes, intoxication from synthetic drug use should be in the differential diagnosis. Identifying the responsible compound(s) may be difficult, so asking the patient broad questions and utilizing appropriate diagnostic studies, when indicated, will aid in making the diagnosis and help identify more-serious complications. This issue discusses the challenges presented by the changing chemical formulations of synthetic cannabinoids, cathinones, and phenethylamines; outlines common presentations of intoxication from these substances; and summarizes best practices for evaluating and managing patients who present with intoxication after consumption of these synthetic drugs of abuse. Read More

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May 2018
2 Reads

Five novel ALMS1 gene mutations in six patients with Alström syndrome.

J Pediatr Endocrinol Metab 2018 Jun;31(6):681-687

Zeynep Kamil Kadın ve Çocuk Hastalıkları Eğitim ve Araştırma Hastanesi, Dr. Burhanettin Üstünel sokak, 34668, Üsküdar, Istanbul, Turkey, Phone: +905322380300.

Background: Alström syndrome is a rare autosomal recessive inherited disorder caused by mutations in the ALMS1 gene.

Methods: We describe the clinical and five novel mutational screening findings in six patients with Alström syndrome from five families in a single center with distinct clinical presentations of this condition.

Results: Five novel mutations in ALMS1 in exon 8 and intron 17 were identified, one of them was a compound heterozygous: c. Read More

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http://dx.doi.org/10.1515/jpem-2017-0418DOI Listing
June 2018
6 Reads
0.711 Impact Factor

Synthetic drug intoxication in children: recognition and management in the emergency department.

Pediatr Emerg Med Pract 2018 May 1;15(5):1-20. Epub 2018 May 1.

Professor of Pediatrics and Emergency Medicine, Yale University School of Medicine, New Haven, CT.

When children and adolescents present to the emergency department with agitation or mental status changes, intoxication from synthetic drug use should be in the differential diagnosis. Identifying the responsible compound(s) may be difficult, so asking the patient broad questions and utilizing appropriate diagnostic studies, when indicated, will aid in making the diagnosis and help identify more-serious complications. This issue discusses the challenges presented by the changing chemical formulations of synthetic cannabinoids, cathinones, and phenethylamines; outlines common presentations of intoxication from these substances; and summarizes best practices for evaluating and managing patients who present with intoxication after consumption of these synthetic drugs of abuse. Read More

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May 2018
1 Read

Investigational Antiretroviral Drugs: What is Coming Down the Pipeline.

Authors:
Roy M Gulick

Top Antivir Med 2018 Apr;25(4):127-132

Weill Cornell Medicine, New York, NY, USA.

Over the past 30 years, antiretroviral drug regimens for treating HIV infection have become more effective, safer, and more convenient. Despite 31 currently approved drugs, the pipeline of investigational HIV drugs remains full. Investigational antiretroviral drugs include the nucleoside analogue reverse transcriptase translocation inhibitor (NRTTI) MK-8591, a long-acting compound that could be dosed once weekly. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5935216PMC
April 2018
13 Reads

Imaging correlations of tau, amyloid, metabolism, and atrophy in typical and atypical Alzheimer's disease.

Alzheimers Dement 2018 Aug 30;14(8):1005-1014. Epub 2018 Mar 30.

Department of Neurology, Mayo Clinic, Rochester, MN, USA.

Introduction: Neuroimaging modalities can measure different aspects of the disease process in Alzheimer's disease, although the relationship between these modalities is unclear.

Methods: We assessed subject-level regional correlations between tau on [F]AV-1451 positron emission tomography (PET), β amyloid on Pittsburgh compound B PET, hypometabolism on [F] fluorodeoxyglucose PET, and cortical thickness on magnetic resonance imaging in 96 participants with typical and atypical Alzheimer's disease presentations. We also assessed how correlations between modalities varied according to age, presenting syndrome, tau-PET severity, and asymmetry. Read More

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http://dx.doi.org/10.1016/j.jalz.2018.02.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6097955PMC
August 2018
3 Reads
12.410 Impact Factor

A family segregating lethal neonatal coenzyme Q deficiency caused by mutations in COQ9.

J Inherit Metab Dis 2018 Jul 20;41(4):719-729. Epub 2018 Mar 20.

Maritime Medical Genetics Service, IWK Health Centre, 5850 University Avenue, P.O. Box 9700, Halifax, NS, B3K 6R8, Canada.

Primary CoQ deficiency is a clinically and genetically heterogeneous, autosomal recessive disorder resulting from mutations in genes involved in the synthesis of coenzyme Q (CoQ). To date, mutations in nine proteins required for the biosynthesis of CoQ cause CoQ deficiency with varying clinical presentations. In 2009 the first patient with mutations in COQ9 was reported in an infant with a neonatal-onset, primary CoQ deficiency with multi-system disease. Read More

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http://dx.doi.org/10.1007/s10545-017-0122-7DOI Listing
July 2018
25 Reads

Identification of compound heterozygous variants in OPTN in an ALS-FTD patient from the CReATe consortium: a case report.

Amyotroph Lateral Scler Frontotemporal Degener 2018 Aug 20;19(5-6):469-471. Epub 2018 Mar 20.

a Department of Neuroscience , Mayo Clinic Jacksonville , Jacksonville , FL , USA.

Homozygous loss-of-function mutations in optineurin (OPTN) are a rare cause of amyotrophic lateral sclerosis (ALS), whereas heterozygous loss-of-function mutations have been suggested to increase ALS disease risk. We report a patient with ALS and frontotemporal dementia (FTD) from the Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium carrying compound heterozygous loss-of-function variants in OPTN. Quantitative real-time mRNA expression analyses revealed a 75-80% reduction in OPTN expression in blood in the OPTN carrier as compared to controls, suggesting at least partial nonsense-mediated decay of the mutant transcripts. Read More

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http://dx.doi.org/10.1080/21678421.2018.1452947DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6116528PMC
August 2018
13 Reads

FDG-PET in tau-negative amnestic dementia resembles that of autopsy-proven hippocampal sclerosis.

Brain 2018 Apr;141(4):1201-1217

Department of Neurology, Mayo Clinic, Rochester, Minnesota, 55905, USA.

See Gordon (doi:10.1093/brain/awy052) for a scientific commentary on this article.Predicting underlying pathology based on clinical presentation has historically proven difficult, especially in older cohorts. Read More

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http://dx.doi.org/10.1093/brain/awy049DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5889045PMC
April 2018
9 Reads

[Clinical characteristics of human recombination activating gene 1 mutations in 8 immunodeficiency patients with diverse phenotypes].

Zhonghua Er Ke Za Zhi 2018 Mar;56(3):186-191

Department of Clinical Immunology, Children's Hospital of Fudan University, Shanghai 201102, China.

To investigate the clinical characteristics of 8 immunodeficiency cases caused by human recombination activating gene 1 (RAG1) mutations, and to explore the relationship among genotypes, clinical manifestations and immunophenotypes. Clinical data were collected and analyzed from patients with RAG1 mutations who visited the Department of Clinical Immunology, Children's Hospital of Fudan University between October 2013 and June 2017. The data included clinical manifestations, immunophenotypes and genotypes. Read More

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http://dx.doi.org/10.3760/cma.j.issn.0578-1310.2018.03.007DOI Listing
March 2018
3 Reads

Defective mitochondrial protease LonP1 can cause classical mitochondrial disease.

Hum Mol Genet 2018 05;27(10):1743-1753

Wellcome Centre for Mitochondrial Research, Institute for Cell and Molecular Biosciences, The Medical School, Newcastle University, Newcastle upon Tyne, UK.

LonP1 is a mitochondrial matrix protease whose selective substrate specificity is essential for maintaining mitochondrial homeostasis. Recessively inherited, pathogenic defects in LonP1 have been previously reported to underlie cerebral, ocular, dental, auricular and skeletal anomalies (CODAS) syndrome, a complex multisystemic and developmental disorder. Intriguingly, although classical mitochondrial disease presentations are well-known to exhibit marked clinical heterogeneity, the skeletal and dental features associated with CODAS syndrome are pathognomonic. Read More

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http://dx.doi.org/10.1093/hmg/ddy080DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5932559PMC
May 2018
6 Reads

[F] AV-1451 uptake in corticobasal syndrome: the influence of beta-amyloid and clinical presentation.

J Neurol 2018 May 1;265(5):1079-1088. Epub 2018 Mar 1.

Department of Neurology, Mayo Clinic, 200 1st St SW, Rochester, MN, 55905, USA.

Corticobasal syndrome (CBS) is a phenotypic manifestation of diverse pathologies, including Alzheimer's disease and 4-repeat tauopathies. Predicting pathology in CBS is unreliable and, hence, molecular neuroimaging may prove to be useful. The aim of this study was to assess regional patterns of uptake on [F] AV-1451 PET in CBS and determine whether patterns of uptake differ according to beta-amyloid deposition or differing clinical presentations. Read More

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http://dx.doi.org/10.1007/s00415-018-8815-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6095646PMC

Late-onset cobalamin C deficiency Chinese sibling patients with neuropsychiatric presentations.

Metab Brain Dis 2018 06 26;33(3):829-835. Epub 2018 Jan 26.

Department of Neurology, Qilu Hospital, Shandong University, 107#,Wen Hua Xi Road, Ji'nan, 250012, People's Republic of China.

The Cobalamin C deficiency (cblC), characterized with elevated methylmalonic acidemia and homocystinuria in plasma, is an inborn error of cobalamin metabolism. The late-onset cblC siblings patients were rarely reported. In this study, we analyzed the clinical presentations and treatment outcomes of late-onset cblC in Chinese sibling patients with neuropsychiatric presentations. Read More

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http://dx.doi.org/10.1007/s11011-018-0189-3DOI Listing
June 2018
4 Reads

PRUNE Syndrome Is a New Neurodevelopmental Disorder: Report and Review.

Child Neurol Open 2018 11;5:2329048X17752237. Epub 2018 Jan 11.

Division of Pediatric Neurology, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.

PRUNE syndrome, or neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies (OMIM#617481), is a new rare autosomal recessive neurodevelopmental disease that is caused by homozygous or compound heterozygous mutation in on chromosome 1q21. Here, We report on 12-month-old and 30-month-old girls from 2 unrelated Saudi families with typical presentations of PRUNE syndrome. Both patients had severe developmental delay, progressive microcephaly, and dysmorphic features. Read More

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http://dx.doi.org/10.1177/2329048X17752237DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5768269PMC
January 2018
7 Reads

Pharmacological targeting of BET proteins attenuates radiation-induced lung fibrosis.

Sci Rep 2018 01 17;8(1):998. Epub 2018 Jan 17.

Cancer Center, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430022, China.

Radiation-induced lung injury has restricted radiotherapy for thoracic cancer. The purpose of this study was to investigate the radioprotective effects of bromodomain and extra terminal (BET) inhibitor JQ1 in a murine model of pulmonary damage. Chest computed tomography (CT) was performed in a rat model after 20 Gy radiation of the right thorax. Read More

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http://dx.doi.org/10.1038/s41598-018-19343-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5772369PMC
January 2018
6 Reads

CHILD syndrome mimicking verrucous nevus in a Chinese patient responded well to the topical therapy of compound of simvastatin and cholesterol.

J Eur Acad Dermatol Venereol 2018 Jul 1;32(7):1209-1213. Epub 2018 Feb 1.

Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.

Background: Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndrome is a rare X-linked dominant disorder characterized by peculiar cutaneous presentations and ipsilateral skeletal abnormalities. CHILD syndrome is caused by mutations in NSDHL gene, which involves in cholesterol synthesis.

Objectives: To verify the diagnosis of CHILD syndrome and seek effective pathogenesis-based therapy with little side-effects. Read More

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http://dx.doi.org/10.1111/jdv.14788DOI Listing
July 2018
2 Reads

Phenotypic stratification and genotype-phenotype correlation in a heterogeneous, international cohort of GNE myopathy patients: First report from the GNE myopathy Disease Monitoring Program, registry portion.

Neuromuscul Disord 2018 Feb 14;28(2):158-168. Epub 2017 Nov 14.

The John Walton Muscular Dystrophy Research Centre, Newcastle University, UK.

GNE myopathy is a rare distal myopathy, caused by mutations in the GNE gene, affecting sialic acid synthesis. Clinical presentation varies from asymptomatic early stage patients to severely debilitating forms. This first report describes clinical presentations and severity of the disease, using data of 150 patients collected via the on-line, patient-reported registry component of the GNE Myopathy Disease Monitoring Program (GNEM-DMP). Read More

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http://dx.doi.org/10.1016/j.nmd.2017.11.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5857291PMC
February 2018
40 Reads

Effect of herbal extract granules combined with otilonium bromide on irritable bowel syndrome with diarrhoea: a study protocol for a randomised controlled trial.

BMJ Open 2017 Dec 1;7(11):e018362. Epub 2017 Dec 1.

Institute for Integrative Medicine, Catholic Kwandong University International St. Mary's Hospital, Incheon, Republic of Korea.

Introduction: Irritable bowel syndrome (IBS), known as a functional and organic gastrointestinal disorder, is a collection of symptoms that occur together and generally include pain or discomfort in the abdomen and changes in bowel movement patterns. Due to the limitations of conventional treatments, alternative IBS treatments are used by many patients worldwide. Samryungbaekchulsan (SRS), a herbal formula, has long been used for alleviating diarrhoea-predominant IBS (D-IBS) in traditional Korean medicine. Read More

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http://dx.doi.org/10.1136/bmjopen-2017-018362DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5719308PMC
December 2017
16 Reads

ATP7B Mutation Detection and Pathogenicity Analysis: One Atypical Case of Wilson's Disease with Adrenocortical Insufficiency.

J Mol Neurosci 2018 Jan 28;64(1):20-28. Epub 2017 Nov 28.

Department of Neurology, Children's Hospital of Soochow University, Suzhou, 215000, Jiangsu, People's Republic of China.

Wilson's disease (WD) is an autosomal recessive disorder caused by defective function of the copper-transporting ATP7B protein. Symptoms are typically related to the brain and liver, while endocrinologic abnormalities are rare. Here, we reported a 12-year-old female patient that was initially presented with unusual skin darkening and low serum level of adrenocorticotropic hormone and diagnosed as having adrenocortical insufficiency. Read More

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http://dx.doi.org/10.1007/s12031-017-0997-7DOI Listing
January 2018
7 Reads

Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults.

JAMA Neurol 2018 Jan;75(1):105-113

MitoLab Team, Unités Mixtes de Recherche Centre National de la Recherche Scientifique 6015-INSERM U1083, Institut MitoVasc, Angers University and Hospital, Angers, France.

Importance: Neurologic disorders with isolated symptoms or complex syndromes are relatively frequent among mitochondrial inherited diseases. Recessive RTN4IP1 gene mutations have been shown to cause isolated and syndromic optic neuropathies.

Objective: To define the spectrum of clinical phenotypes associated with mutations in RTN4IP1 encoding a mitochondrial quinone oxidoreductase. Read More

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http://dx.doi.org/10.1001/jamaneurol.2017.2065DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5833489PMC
January 2018
23 Reads

Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits.

Neurogenetics 2017 Dec 26;18(4):227-235. Epub 2017 Oct 26.

Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.

Mitochondrial diseases are characterised by clinical, molecular and functional heterogeneity, reflecting their bi-genomic control. The nuclear gene GFM2 encodes mtEFG2, a protein with an essential role during the termination stage of mitochondrial translation. We present here two unrelated patients harbouring different and previously unreported compound heterozygous (c. Read More

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http://dx.doi.org/10.1007/s10048-017-0526-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5705740PMC
December 2017
27 Reads

"Homozygous, and compound heterozygous mutation in 3 Turkish family with Jervell and Lange-Nielsen syndrome: case reports".

BMC Med Genet 2017 10 16;18(1):114. Epub 2017 Oct 16.

Department of Histology& Embryology, Near East University, Faculty of Medicine, Nicosia, North, Cyprus.

Background: Jervell and Lange-Nielsen syndrome (JLNS) isa recessive model of long QT syndrome which might also be related to possible hearing loss. Although the syndrome has been demonstrated to be originated from homozygous or compound heterozygous mutations in either the KCNQ1 or KCNE1 genes, additional mutations in other genetic loci should be considered, particularly in malignant course patients.

Case Presentations: Three patients were admitted into hospital due to recurrent seizures/syncope, intrauterine and postnatal bradycardia respectively; moreover all three patients had congenital sensorineural hearing-loss. Read More

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http://dx.doi.org/10.1186/s12881-017-0474-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5644177PMC
October 2017
14 Reads

Functional assays for the assessment of the pathogenicity of variants of GOSR2, an ER-to-Golgi SNARE involved in progressive myoclonus epilepsies.

Dis Model Mech 2017 12 19;10(12):1391-1398. Epub 2017 Dec 19.

Biochemistry III/Faculty of Chemistry, Bielefeld University, Universitätsstraße 25, 33615 Bielefeld, Germany

Progressive myoclonus epilepsies (PMEs) are inherited disorders characterized by myoclonus, generalized tonic-clonic seizures, and ataxia. One of the genes that is associated with PME is the ER-to-Golgi Q-SNARE GOSR2, which forms a SNARE complex with syntaxin-5, Bet1 and Sec22b. Most PME patients are homo-zygous for a p. Read More

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http://dx.doi.org/10.1242/dmm.029132DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5769602PMC
December 2017
24 Reads

Multiple Presentations of LRBA Deficiency: a Single-Center Experience.

J Clin Immunol 2017 Nov 27;37(8):790-800. Epub 2017 Sep 27.

Department of Pediatric Allergy and Immunology, Ankara University School of Medicine, Cebeci, 06590, Ankara, Turkey.

Introduction: LPS-responsive beige-like anchor protein (LRBA) deficiency is a primary immunodeficiency categorized as common variable immunodeficiency associated with autoimmune manifestations and inflammatory bowel diseases; however, the clinical spectrum has been extended. Here, we present our cohort of Turkish LRBA-deficient patients from a single center, demonstrating a diversity of clinical manifestations.

Method: Seven affected individuals from five families were assessed retrospectively in this study. Read More

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http://dx.doi.org/10.1007/s10875-017-0446-yDOI Listing
November 2017
48 Reads

A novel ETFDH mutation in an adult patient with late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.

Int J Neurosci 2018 Mar 9;128(3):291-294. Epub 2017 Oct 9.

a Department of Neurology , The First Affiliated Hospital of Zhengzhou University , Zhengzhou , P.R. China.

Aim Of The Study: To report a novel mutation in the electron transfer flavoprotein dehydrogenase (ETFDH) gene in an adult patient with late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.

Materials And Methods: The genomic DNAs from a patient whose main clinical presentations are muscles weakness and hypoglycemia was analysed.

Results: The patient was identified to carry compound heterozygous mutations in ETFDH gene. Read More

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http://dx.doi.org/10.1080/00207454.2017.1380641DOI Listing
March 2018
29 Reads

Late-Onset Non-HLH Presentations of Growth Arrest, Inflammatory Arachnoiditis, and Severe Infectious Mononucleosis, in Siblings with Hypomorphic Defects in .

Front Immunol 2017 9;8:944. Epub 2017 Aug 9.

Killer Cell Biology Laboratory, Cancer Immunology Research, Peter MacCallum Cancer Centre, Melbourne, VIC, Australia.

Bi-allelic null mutations affecting , or result in defects of lymphocyte cytotoxic degranulation and commonly cause familial hemophagocytic lymphohistiocytosis (FHL) in early life. Patients with partial loss of function are increasingly being diagnosed after presenting with alternative features of this disease, or with HLH later in life. Here, we studied two sisters with lymphocyte degranulation defects secondary to compound heterozygote missense variants in . Read More

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http://dx.doi.org/10.3389/fimmu.2017.00944DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5552658PMC
August 2017
40 Reads

Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction.

Am J Hum Genet 2017 Aug;101(2):291-299

Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel; Pediatric Neurology Unit, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel.

Progressive childhood encephalopathy is an etiologically heterogeneous condition characterized by progressive central nervous system dysfunction in association with a broad range of morbidity and mortality. The causes of encephalopathy can be either non-genetic or genetic. Identifying the genetic causes and dissecting the underlying mechanisms are critical to understanding brain development and improving treatments. Read More

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http://dx.doi.org/10.1016/j.ajhg.2017.07.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5544387PMC
August 2017
23 Reads

Early Onset of Wilson Disease: Diagnostic Challenges.

J Pediatr Gastroenterol Nutr 2017 11;65(5):555-560

*Department of Gastroenterology, Hepatology, Nutritional Disorders and Pediatrics, The Children's Memorial Health Institute, Warsaw, Poland †Klinik für Transplantationsmedizin, University Hospital of Muenster, Muenster, Germany.

Objectives: The aim of the study was to analyze the clinical presentations, diagnosis, and treatment of patients ages ≤5 years with early onset Wilson disease (WD).

Methods: Data from 143 pediatric patients with WD treated at our center between January 1996 and November 2015 were retrospectively analyzed.

Results: A review of the 143 pediatric patients with WD identified 21 (10 girls, 11 boys) with first symptoms or abnormal liver function test results at age ≤5 years. Read More

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http://dx.doi.org/10.1097/MPG.0000000000001700DOI Listing
November 2017
28 Reads

Functionally pathogenic variants in vitro may not manifest a phenotype in vivo.

Neurol Genet 2017 Aug 14;3(4):e162. Epub 2017 Jul 14.

Baylor Research Institute (N.M., B.L., R.S.), Baylor Scott and White Health, Dallas, TX; Unit of Molecular Neurogenetics (A.N., D.G.), Foundation IRCCS Institute of Neurology "Besta," Milan, Italy; Mitochondrial Biology Unit (A.R.), Medical Research Council, Cambridge, United Kingdom; Department of Bioinformatics (B.C.), University of Texas Southwestern Medical Center, Dallas; and Department of Neurology (A.V.), George Washington University School of Medicine, Children's National Health, DC.

Objective: To investigate the genetic etiology of a patient diagnosed with leukoencephalopathy, brain calcifications, and cysts (LCC).

Methods: Whole-exome sequencing was performed on a patient with LCC and his unaffected family members. The variants were subject to in silico and in vitro functional testing to determine pathogenicity. Read More

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http://dx.doi.org/10.1212/NXG.0000000000000162DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5511247PMC
August 2017
15 Reads

EXPANDED PHENOTYPE OF TMEM67 GENE MUTATION (CASE REPORT).

Georgian Med News 2017 Jun(267):100-103

1MediClubGeorgia Medical Center, Department of Pediatrics; 2Tbilisi State Medical University, Department of Molecular and Medical Genetics; 3St Christopher's Hospital for Children, Philadelphia, PA, U.S.A.; 4M. Iashvili Children Central Hospital, Uronephrology Department, Tbilisi, Georgia.

Human ciliopathies are a class of multi-organ genetic disorders caused by defects of proteins expressed at the primary cilium, an organelle present on the cell surface of almost all cell types. Thus far, dozens of causative genes for ciliopathies have been identified and many of them are known to cause allelic disease. Of particular interest is the TMEM67 gene, encoding the transmembrane protein meckelin. Read More

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June 2017
24 Reads

Nephron development and extrarenal features in a child with congenital nephrotic syndrome caused by null LAMB2 mutations.

BMC Nephrol 2017 Jul 6;18(1):220. Epub 2017 Jul 6.

Department of Pediatrics, Kansai Medical University, 2-5-1 Shimachi, Hirakata, Osaka, 573-1010, Japan.

Background: Congenital nephrotic syndrome (CNS) is a rare disorder caused by various structural and developmental defects of glomeruli. It occurs typically as an isolated kidney disorder but associates sometimes with other systemic, extrarenal manifestations.

Case Presentations: An infant presented with severe CNS, which progressed rapidly to renal failure at age of 3 months and death at 27 months. Read More

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http://bmcnephrol.biomedcentral.com/articles/10.1186/s12882-
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http://dx.doi.org/10.1186/s12882-017-0632-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5501564PMC
July 2017
12 Reads

Deficiency of WARS2, encoding mitochondrial tryptophanyl tRNA synthetase, causes severe infantile onset leukoencephalopathy.

Am J Med Genet A 2017 Sep 26;173(9):2505-2510. Epub 2017 Jun 26.

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

Pathogenic variants in the mitochondrial aminoacyl tRNA synthetases lead to deficiencies in mitochondrial protein synthesis and are associated with a broad range of clinical presentations usually with early onset and inherited in an autosomal recessive manner. Of the 19 mitochondrial aminoacyl tRNA synthetases, WARS2, encoding mitochondrial tryptophanyl tRNA synthetase, was as of late the only one that had not been associated with disease in humans. A case of a family with pathogenic variants in WARS2 that caused mainly intellectual disability, speech impairment, aggressiveness, and athetosis was recently reported. Read More

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http://dx.doi.org/10.1002/ajmg.a.38339DOI Listing
September 2017
14 Reads

Further delineation of COG8-CDG: A case with novel compound heterozygous mutations diagnosed by targeted exome sequencing.

Clin Chim Acta 2017 Aug 13;471:191-195. Epub 2017 Jun 13.

Department of Pediatics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea. Electronic address:

Congenital disorders of glycosylation (CDG) are a rapidly expanding group of inherited metabolic disorders with highly variable clinical presentations caused by deficient glycosylation of proteins and/or lipids. CDG-IIh is a very rare subgroup of CDG caused by mutations in the conserved oligomeric Golgi (COG) complex gene, COG8, and so far, only two cases have been reported in the medical literature. Here, we describe an 8-year-old Korean boy with psychomotor retardation, hypotonia, failure to thrive, elevated serum liver enzymes, microcephaly, and talipes equinovarus. Read More

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http://dx.doi.org/10.1016/j.cca.2017.06.010DOI Listing
August 2017
8 Reads

Do rats learn conditional independence?

R Soc Open Sci 2017 Feb 8;4(2):160994. Epub 2017 Feb 8.

Psychological and Brain Sciences , Indiana University , Bloomington, IN , USA.

If acquired associations are to accurately represent real relevance relations, there is motivation for the hypothesis that learning will, in some circumstances, be more appropriately modelled, not as direct dependence, but as conditional independence. In a serial compound conditioning experiment, two groups of rats were presented with a conditioned stimulus (CS1) that imperfectly (50%) predicted food, and was itself imperfectly predicted by a CS2. Groups differed in the proportion of CS2 presentations that were ultimately followed by food (25% versus 75%). Read More

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http://dx.doi.org/10.1098/rsos.160994DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5367320PMC
February 2017
5 Reads