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    1444 results match your criteria Chediak-Higashi Syndrome

    1 OF 29

    Chédiak-Higashi syndrome with novel gene mutation.
    BMJ Case Rep 2017 Feb 9;2017. Epub 2017 Feb 9.
    Haematolgy & Transfusion unit, Pathology Department, Latifa Hospital, Dubai Health Authority, Dubai, UAE.
    Chédiak-Higashi syndrome (CHS) is a rare disorder of immune deficiency with autosomal recessive inheritance. Over the past 20 years, ∼500 cases were published worldwide. The mean age of onset is 5-6 years. Read More

    Whole Genome Sequencing Identifies Novel Compound Heterozygous Lysosomal Trafficking Regulator Gene Mutations Associated with Autosomal Recessive Chediak-Higashi Syndrome.
    Sci Rep 2017 Feb 1;7:41308. Epub 2017 Feb 1.
    Department of Dermatology, Beijing Children's Hospital, Capital Medical University, Beijing, China.
    Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disease characterized by varying degrees of oculocutaneous albinism, recurrent infections, and a mild bleeding tendency, with late neurologic dysfunction. This syndrome is molecularly characterized by pathognomonic mutations in the LYST (lysosomal trafficking regulator). Using whole genome sequencing (WGS) we attempted to identify novel mutations of CHS based on a family of CHS with atypical symptoms. Read More

    Lysosomal trafficking regulator Lyst links membrane trafficking to toll-like receptor-mediated inflammatory responses.
    J Exp Med 2017 Jan 23;214(1):227-244. Epub 2016 Nov 23.
    Institute of Clinical Chemistry, Inflammation Research Group, Hannover Medical School, 30625 Hannover, Germany
    Subcellular compartmentalization of receptor signaling is an emerging principle in innate immunity. However, the functional integration of receptor signaling pathways into membrane trafficking routes and its physiological relevance for immune responses is still largely unclear. In this study, using Lyst-mutant beige mice, we show that lysosomal trafficking regulator Lyst links endolysosomal organization to the selective control of toll-like receptor 3 (TLR3)- and TLR4-mediated proinflammatory responses. Read More

    NK cell effector functions in a Chédiak-Higashi patient undergoing cord blood transplantation: Effects of in vitro treatment with IL-2.
    Immunol Lett 2016 Dec 2;180:46-53. Epub 2016 Nov 2.
    Department of Molecular Medicine, Istituto Pasteur-Fondazione Cenci Bolognetti, "Sapienza" University of Rome, Italy.
    NK cell cytotoxicity in Chédiak-Higashi syndrome (CHS) is strongly impaired as lytic granules are not released upon NK-target cell contact, contributing to several defects typical of this severe immunodeficiency. Correction of NK cell defects in CHS should improve the outcome of hematopoietic stem-cell transplantation, proposed as therapy. We investigated NK cell functions in a CHS patient before and after cord-blood transplantation, and the ability of in vitro IL-2 treatment to restore them. Read More

    Inflammatory demyelinating neuropathy heralding accelerated chediak-higashi syndrome.
    Muscle Nerve 2016 Sep 26. Epub 2016 Sep 26.
    Department of Neurology, School of Medical Sciences, University of Campinas - UNICAMP, Rua Tessália Vieira de Camargo,126. Cidade Universitaria "Zeferino Vaz", Campinas, SP, Brazil.
    Introduction: Chediak-Higashi syndrome (CHS) is a very rare autosomal recessive disorder (gene CHS1/LYST) characterized by partial albinism, recurrent infections, and easy bruising. Survivors develop a constellation of slowly progressive neurological manifestations.

    Methods: We describe clinical, laboratory, electrophysiological, and genetic findings of a patient who developed an immune-mediated demyelinating neuropathy as the main clinical feature of CHS. Read More

    Oral rehabilitation of patients with Chediak-Higashi syndrome using zygoma and root form implant-supported fixed prostheses: A report of two patients.
    J Prosthet Dent 2016 Dec 1;116(6):831-835. Epub 2016 Aug 1.
    Professor, Department of Dental Practice, Arthur A. Dugoni School of Dentistry, University of the Pacific, San Francisco, Calif.
    Chediak-Higashi syndrome (CH-S) is a rare genetic immunodeficiency disorder. Fewer than 500 individuals with CH-S have been reported worldwide in the past 20 years. The dental management of patients in whom CH-S has been diagnosed has been rarely reported and only in the form of a case report. Read More

    Spontaneous repigmentation of silvery hair in an infant with congenital hydrops fetalis and hypoproteinemia.
    Cutis 2016 Jun;97(6):E1-5
    Department of Dermatology, Hospital Clínic, University of Barcelona, Spain.
    Silvery hair is a characteristic finding of 3 rare autosomal recessive disorders: Chédiak-Higashi syndrome (CHS), Elejalde syndrome (ES), and Griscelli syndrome (GS). We report the case of a 2-month-old male infant with transient silvery hair and generalized hypopigmentation of the skin and eyes who did not have one of these classic causative disorders. The patient was delivered at 35 weeks' gestation with congenital hydrops fetalis associated with a chromosomal abnormality (46,XY,add[2],[p23]), hypothyroidism, hypoproteinemia, and hypogammaglobulinemia. Read More

    Progression of experimental chronic Aleutian mink disease virus infection.
    Acta Vet Scand 2016 Jun 1;58(1):35. Epub 2016 Jun 1.
    National Veterinary Institute, Technical University of Denmark, Bülowsvej 27, 1870, Frederiksberg C, Denmark.
    Background: Aleutian mink disease virus (AMDV) is found world-wide and has a major impact on mink health and welfare by decreasing reproduction and fur quality. In the majority of mink, the infection is subclinical and the diagnosis must be confirmed by serology or polymerase chain reaction (PCR). Increased knowledge based on a systematically description of clinical signs, pathology and histopathology might be a tool to reduce the risk of infection from subclinically infected mink to AMDV free herds. Read More

    Severe anemia due to parvovirus B19 in a silver haired boy.
    Indian J Pathol Microbiol 2016 Jan-Mar;59(1):110-2
    Department of Pediatrics, King George's Medical University, Lucknow, Uttar Pradesh, India.
    Griscelli syndrome (GS) is a rare autosomal recessive immunodeficiency disorder in which the affected children present with characteristic silvery-white hairs. The hair microscopy of these children is characteristic and is helpful in differentiating GS from Chediak-Higashi syndrome which also presents with immunodeficiency and silver hairs. We report a 17-month-old boy with GS type 2 who presented with severe anemia. Read More

    Neurologic involvement in patients with atypical Chediak-Higashi disease.
    Neurology 2016 04 4;86(14):1320-8. Epub 2016 Mar 4.
    From the Office of the Clinical Director (W.J.I., C.A.G., V.B., G.A.G., W.A.G., C.T.) and Human Biochemical Genetics Section, Medical Genetics Branch (W.W., A.R.C., S.G.Z., D.R.A., H.M.D., R.A.H., M.H., W.A.G.), National Human Genome Research Institute, Department of Radiology and Imaging Sciences, Clinical Center (E.H.B.), Electromyography Section, Office of the Clinical Director, National Institute of Neurological Disorders and Stroke (T.J.L.), and Office of the Clinical Director, National Institute of Mental Health (J.S.), National Institutes of Health, Bethesda, MD; and Metabolic and Clinical Geneticist (V.B.), Department of Medical Genetics, Children's Hospitals and Clinics of Minnesota, Minneapolis.
    Objective: To delineate the developmental and progressive neurodegenerative features in 9 young adults with the atypical form of Chediak-Higashi disease (CHD) enrolled in a natural history study.

    Methods: Patients with atypical clinical features, but diagnostically confirmed CHD by standard evaluation of blood smears and molecular genotyping, underwent complete neurologic evaluation, MRI of the brain, electrophysiologic examination, and neuropsychological testing. Fibroblasts were collected to investigate the cellular phenotype and correlation with the clinical presentation. Read More

    Concordance of visual and structural features between siblings with albinism.
    J AAPOS 2016 Feb;20(1):34-6
    Departments of Ophthalmology and Visual Neurosciences, University of Minnesota, Minneapolis; Department of Pediatrics, University of Minnesota, Minneapolis. Electronic address:
    Purpose: To evaluate similarities and differences in visual function and ocular structure between siblings with albinism.

    Methods: The medical records of all siblings diagnosed with albinism were retrospectively reviewed. Comparisons were made using examination at oldest age for younger sibling and examination closest to that age for older siblings. Read More

    Tsitologiia 2015 ;57(10):736-41
    It has been established that sapphire minks have abnormality of subcellular structure of blood and bone marrow neutrophils and eosinophils. The abnormality consists in forming of abnormal "giant" granules. The si- ze and the number of abnormal granules significantly change during maturation of leucocytes in bone marrow. Read More

    Accelerated Phase of Chediak-Higashi Syndrome at Initial Presentation: A Case Report of an Uncommon Occurrence in a Rare Disorder.
    J Clin Diagn Res 2015 Dec 1;9(12):ED13-4. Epub 2015 Dec 1.
    Assistant Professor, Department of Pathology, King George Medical University , Lucknow, U.P., India .
    Chediak-Higashi syndrome (CHS) is an uncommon and fatal congenital disorder. The characteristic features of CHS are partial oculocutaneous albinism, increased vulnerability to infections, presence of abnormal large granules in leukocytes and an accelerated lymphohistiocytic phase. Accelerated phase at initial presentation is rarely seen as it is usually preceded by repeated episodes of infections. Read More

    Silvery Hair with Speckled Dyspigmentation: Chediak-Higashi Syndrome in Three Indian Siblings.
    Int J Trichology 2015 Jul-Sep;7(3):133-5
    Department of Dermatology and Venereology, Vijayanagara Institute of Medical Sciences, Bellary, Karnataka, India.
    Silvery hair is a common feature of Chediak-Higashi syndrome (CHS), Griscelli syndrome, and Elejalde syndrome. CHS is a rare autosomal recessive disorder characterized by partial oculocutaneous albinism, frequent pyogenic infections, and the presence of abnormal large granules in leukocytes and other granule containing cells. A 6-year-old girl had recurrent respiratory infections, speckled hypo- and hyper-pigmentation over exposed areas, and silvery hair since early childhood. Read More

    Premature loss of primary teeth with gingival erythema: An alert to dentist.
    J Oral Maxillofac Pathol 2015 May-Aug;19(2):271
    Department of Conservative Dentistry, Pt. B. D Sharma University of Health Sciences, Post Graduate Institute of Dental Sciences, Rohtak, Haryana, India.
    Premature exfoliation of primary teeth is an important diagnostic event warranting urgent investigation. The majority of conditions presenting with early loss of teeth are serious and in some cases could be fatal. The most common causes of premature tooth loss are Papillion-Lefevre syndrome, Chediak-Higashi syndrome, hypophosphatasia, neutropenia, leukemia and in some cases Langerhans cell histiocytosis (LCH). Read More

    Development of an Enzyme-Linked Immunosorbent Assay Based on Fusion VP2332-452 Antigen for Detecting Antibodies against Aleutian Mink Disease Virus.
    J Clin Microbiol 2016 Feb 18;54(2):439-42. Epub 2015 Nov 18.
    State Key Laboratory of Veterinary Biotechnology, Harbin Veterinary Research Institute of Chinese Academy of Agricultural Sciences, Harbin, China
    For detection of Aleutian mink disease virus (AMDV) antibodies, an enzyme-linked immunosorbent assay (ELISA) was developed using the recombinant VP2332-452 protein as an antigen. Counterimmunoelectrophoresis (CIEP) was used as a reference test to compare the results of the ELISA and Western blotting (WB); the specificity and sensitivity of the VP2332-452 ELISA were 97.9% and 97. Read More

    Chediak-Higashi Syndrome: A Case Series from Karnataka, India.
    Indian J Dermatol 2015 Sep-Oct;60(5):524
    Department of Pathology, Indira Gandhi Institute of Child Health, Bangalore, Karnataka, India.
    Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disease, characterized by partial oculocutaneous albinism, frequent pyogenic infections, and the presence of abnormal large granules in leukocytes and other granulecontaining cells. The abnormal granules are readily seen in blood and marrow granulocytes. Other clinical features include silvery hair, photophobia, nystagmus and hepatosplenomegaly. Read More

    [Differential diagnostics of hypomelanoses].
    Hautarzt 2015 Dec;66(12):945-58; quiz 959-60
    Klinik für Hautkrankheiten, Universitätsklinikum Münster, Von-Esmarch-Str. 58, 48149, Münster, Deutschland.
    Hypomelanoses of the skin encompass a wide spectrum of congenital and acquired alterations in melanin pigmentation. These diseases can be localized or universal. The pathobiology of cutaneous hypomelanoses is heterogeneous and includes defects in melanoblast migration from the neural crest to the epidermis, alterations in melanogenesis and melanin transfer to keratinocytes, and destruction of pigment cells by autoimmune and inflammatory processes. Read More

    J Wildl Dis 2016 Jan 3;52(1):22-32. Epub 2015 Nov 3.
    7  Departament de Sanitat i Anatomia Animal, Universitat Autònoma de Barcelona, 08193 Bellaterra, Barcelona, Spain.
    The European mink (Mustela lutreola) has undergone a dramatic decline and is one of the most endangered mammals in the world. The invasive American mink (Neovison vison) is considered the main factor for this decline. However, the American mink's introduction and the subsequent ecological concurrence of the two species cannot solely explain the decline or disappearance of the European mink. Read More

    Allogeneic hematopoietic stem cell transplantation for Chediak-Higashi syndrome.
    Pediatr Transplant 2016 Mar 29;20(2):271-5. Epub 2015 Oct 29.
    Department of Cell Transplantation and Regenerative Medicine, Tokai University School of Medicine, Isehara, Japan.
    The clinical outcome of allogeneic HSCT was retrospectively analyzed in eight patients with CHS. In total, six of these eight patients are alive. Four of five patients transplanted with MAC achieved prompt engraftment, and three of the four patients, including two patients with AP before transplant, are alive without disease. Read More

    A clinical report of Chediak-Higashi syndrome in infancy with a novel genotype from the Indian subcontinent.
    Int J Dermatol 2016 Mar 24;55(3):317-21. Epub 2015 Oct 24.
    Division of Genetics, Department of Pediatrics, MAMC Associated Lok Nayak Hospital, New Delhi, India.
    Chediak-Higashi syndrome (CHS; OMIM no. 214500) is an inherited multisystem disorder presenting with hypopigmentation and a propensity to infections due to immunological dysfunction. CHS generally presents in infancy with a fatal outcome, but less severe cases can present in adulthood. Read More

    Chediak-Higashi syndrome: Lysosomal trafficking regulator domains regulate exocytosis of lytic granules but not cytokine secretion by natural killer cells.
    J Allergy Clin Immunol 2016 Apr 21;137(4):1165-77. Epub 2015 Oct 21.
    Receptor Cell Biology Section, Laboratory of Immunogenetics, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Rockville, Md. Electronic address:
    Background: Mutations in lysosomal trafficking regulator (LYST) cause Chediak-Higashi syndrome (CHS), a rare immunodeficiency with impaired cytotoxic lymphocyte function, mainly that of natural killer (NK) cells. Our understanding of NK cell function deficiency in patients with CHS and how LYST regulates lytic granule exocytosis is very limited.

    Objective: We sought to delineate cellular defects associated with LYST mutations responsible for the impaired NK cell function seen in patients with CHS. Read More

    [Sequencing Analyses of the Hypervariable Region within the VP2 Gene of a Strain of the Aleutian Mink Disease Virus].
    Bing Du Xue Bao 2015 May;31(3):226-30
    To analyze the molecular mechanisms of cross-host transmission of the Aleutian mink disease vi rus (ADV), the hypervariable region fragment of the VP2 gene of the ADV in Jilin Province (China) was amplified. Sequencing analyses showed diversity at residue 174 by comparison with other VP2 genes in GenBank. The phylogenetic tree indicated that the ADV-JL strain had a close relationship with the highly pathogenic strain from Denmark: ADV-K. Read More

    Lysosomal Trafficking Regulator (LYST).
    Adv Exp Med Biol 2016 ;854:745-50
    The Jackson Laboratory, 04609, Bar Harbor, ME, USA.
    Regulation of vesicle trafficking to lysosomes and lysosome-related organelles (LROs) as well as regulation of the size of these organelles are critical to maintain their functions. Disruption of the lysosomal trafficking regulator (LYST) results in Chediak-Higashi syndrome (CHS), a rare autosomal recessive disorder characterized by oculocutaneous albinism, prolonged bleeding, severe immunodeficiency, recurrent bacterial infection, neurologic dysfunction and hemophagocytic lympohistiocytosis (HLH). The classic diagnostic feature of the syndrome is enlarged LROs in all cell types, including lysosomes, melanosomes, cytolytic granules and platelet dense bodies. Read More

    Optic neuropathy in late-onset neurodegenerative Chédiak-Higashi syndrome.
    Br J Ophthalmol 2016 May 25;100(5):704-7. Epub 2015 Aug 25.
    Division of Neuro-ophthalmology, Department of Neurology, New York University School of Medicine, New York, New York, USA.
    Background: The classic form of Chédiak-Higashi syndrome (CHS), an autosomal recessive disorder of lysosomal trafficking with childhood onset caused by mutations in ITALIC! LYST, is typified ophthalmologically by ocular albinism with vision loss attributed to foveal hypoplasia or nystagmus. Optic nerve involvement and ophthalmological manifestations of the late-onset neurodegenerative form of CHS are rarely reported and poorly detailed.

    Methods: Case series detailing ophthalmological and neurological findings in three adult siblings with the late-onset form of CHS. Read More

    Chediak-Higashi syndrome presenting in accelerated phase: A case report and literature review.
    Hematol Oncol Stem Cell Ther 2016 Jun 1;9(2):71-5. Epub 2015 Aug 1.
    Faculty of Medicine, Pediatric Department, Hédi Chaker Hospital, Sfax, Tunisia.
    Chediak-Higashi syndrome (CHS) is a rare autosomal recessive lysosomal disorder characterized by frequent infections, oculocutaneous albinism, bleeding diathesis, and progressive neurologic deterioration. In 85% of cases, CHS patients develop the accelerated phase characterized by pancytopenia, high fever, and lymphohistiocytic infiltration of liver, spleen, and lymph nodes. Treatment of accelerated-phase CHS is difficult and the prognosis is poor. Read More

    Causes of mortality in farmed mink in the Intermountain West, North America.
    J Vet Diagn Invest 2015 Jul 15;27(4):470-5. Epub 2015 Jun 15.
    School of Veterinary Medicine, Department of Animal, Dairy and Veterinary Sciences, Utah State University, Logan, UT (Wilson, Baldwin, Whitehouse)Utah Veterinary Diagnostic Laboratory, Logan, UT (Hullinger).
    The primary causes of mortality were identified in postmortem examination of 339 (90.9%) of 373 farmed mink (Neovison vison; syn. Mustela vison) from January 2009 through June 2014 at the Utah Veterinary Diagnostic Laboratory (Logan, Utah). Read More

    Neutrophil functional disorder in childhood.
    Pril (Makedon Akad Nauk Umet Odd Med Nauki) 2015 ;36(1):183-90
    Department of immunology, University Clinic for Children`s Diseases, Medical Faculty, Skopje, R. Macedonia.
    Neutrophil functional disorders thought to be uncommon, yet important as a cause of morbidity and mortality in infants and children. During the first years of life, when the immune system is still not completely mature, when the viral infections are frequent and antibiotic overuse can damage and alter the immune response, the inadequate nutrition followed with iron deficient anemia and malnutrition can lead the child`s organism in state of immunodeficiency. Sometimes is difficult to distinguish at the beginning weather the cause of patient suffering from frequent infections is existing of primary immunodeficiency disorder or the cause of the immunodeficiency state is just from exogenous factors. Read More

    [Research into the antibody detection technology of mink plasmacytosis and its current applications].
    Bing Du Xue Bao 2015 Jan;31(1):85-90
    Mink plasmacytosis, caused by Aleutian Mink Disease Virus (AMDV), poses a threat to the development of the animal fur industry. Neutralizing antibodies against AMDV may result in a persistent infection rather than providing protection for minks. To date,no specific methods to prevent or cure this disease have been developed. Read More

    A severe systemic presentation of pigmented villonodular synovitis in a child with underlying Chediak-Higashi syndrome.
    J Pediatr Orthop B 2015 Nov;24(6):526-9
    aUniversity of Bristol Medical School bDepartment of Orthopaedics cDepartment of Radiology dBone Marrow Transplant Unit, Royal Hospital for Children, Bristol eDepartment of Paediatrics, Royal Devon and Exeter Hospital, Exeter, UK fSection of Experimental Anaesthesiology, Ulm University, Germany.
    Pigmented villonodular synovitis (PVNS), a condition of synovial hyperproliferation that mostly affects large joints, is rare in children and conventionally lacks systemic symptoms. This report describes a complex paediatric patient who underwent bone marrow transplantation to control the accelerated phase of the Chediak-Higashi syndrome. Diffuse PVNS developed in one knee 2. Read More

    Partial Oculocutaneous Albinism: Two Siblings with Features of both Hermansky Pudlak and Waardenburg's Syndrome.
    J Coll Physicians Surg Pak 2015 Apr;25 Suppl 1:S43-4
    Department of Ophthalmology, Armed Forces Institute of Ophthalmology, Rawalpindi.
    Albinism is an inherited abnormality of melanin synthesis with incidence of one per 20,000 births. Its clinical manifestations are related to the reduction or absence of pigmentation in the visual system and/or the skin and teguments. The clinical spectrum of Oculocutaneous Albinism (OCA) has four types ranging from OCA 1 - 4, of which OCA 1, A-1 is the most severe form. Read More

    Recurrent childhood PRES.
    Neurol Sci 2015 Sep 18;36(9):1603-9. Epub 2015 Apr 18.
    Department of Radiology, Baskent University Medical Faculty, 44. Sokak No: 11/8, Bahcelievler, Ankara, Turkey,
    The purpose of the study was to review the recurrent posterior reversible encephalopathy syndrome (PRES) and emphasize the possibility of repeated attacks on the basis of particular clinical situations. 32 children, diagnosed with PRES were included in our study. The recurrent cases were determined; their radiological features such as involved localizations and clinical information such as presenting symptoms, underlying diseases and clinical prognosis are retrospectively assessed. Read More

    Chédiak-Higashi syndrome: brain MRI and MR spectroscopy manifestations.
    Pediatr Radiol 2015 Jul 10;45(8):1253-7. Epub 2015 Feb 10.
    Neuroradiology Department, Roger Salengro Hospital, CHRU, Lille, France,
    Chédiak-Higashi syndrome is a rare inherited metabolic disorder characterized by partial oculocutaneous albinism, immunodeficiency, and neurological dysfunction. We present the brain magnetic resonance imaging (MRI) and MR spectroscopy (MRS) findings obtained during the accelerated phase of the disorder in an 8-year-old. The brain MRI manifestations at recurrences 15 months and 24 months later are reported as well. Read More

    Detection of Aleutian mink disease virus DNA and antiviral antibodies in American mink (Neovison vison) 10 days postinoculation.
    J Vet Diagn Invest 2015 May 10;27(3):287-94. Epub 2015 Apr 10.
    Department of Plant and Animal Sciences, Faculty of Agriculture, Dalhousie University, Truro, Nova Scotia, Canada.
    Early detection of infection by the Aleutian mink disease virus (AMDV; Carnivore amdoparvovirus 1) by polymerase chain reaction (PCR) or counterimmunoelectrophoresis (CIEP) has important ramifications in virus eradication programs. A spleen homogenate containing a local isolate of AMDV was injected intraperitoneally into black (n = 44) and sapphire (n = 12) American mink (Neovison vison). Animals were euthanized 10 days postinoculation and anti-AMDV antibodies and AMDV DNA were tested in plasma and 7 organs by CIEP and PCR, respectively. Read More

    Aleutian mink disease virus in free-ranging mink from Sweden.
    PLoS One 2015 30;10(3):e0122194. Epub 2015 Mar 30.
    Division of Reproduction, Department of Clinical Sciences, Swedish University of Agricultural Sciences, Uppsala, Sweden.
    Aleutian mink disease (AMD) is a chronic viral disease in farmed mink and the virus (AMDV) has been found in many free-ranging mink (Neovison vison) populations in Europe and North America. In this study, AMDV DNA and AMDV antibodies were analysed in 144 free-ranging mink hunted in Sweden. Associations between being AMDV infected (defined as positive for both viral DNA and antibodies) and the weight of the spleen, liver, kidneys, adrenal glands and body condition were calculated and the sequences of ten AMDV isolates were analysed in order to characterize the genetic relationships. Read More

    Seizure as the presenting manifestation in Griscelli syndrome type 2.
    Pediatr Neurol 2015 May 26;52(5):535-8. Epub 2015 Jan 26.
    Department of Pediatrics, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
    Background: Griscelli syndrome is an autosomal recessive disease that is characterized by hypopigmentation of the skin and hair, presence of large clumps of pigment in hair shafts, and accumulation of melanosomes in melanocytes; it resembles Chediak-Higashi syndrome. Griscelli syndrome type 2 is caused by mutations in the RAB27A gene and has predominant immunologic abnormalities.

    Method: A retrospective case analysis highlighting neurological complications in an individual with Griscelli syndrome type 2. Read More

    Aleutian mink disease virus in free-ranging mustelids in Finland - a cross-sectional epidemiological and phylogenetic study.
    J Gen Virol 2015 Jun 9;96(Pt 6):1423-35. Epub 2015 Feb 9.
    Department of Virology, Faculty of Medicine, University of Helsinki, Helsinki, Finland.
    Aleutian mink disease virus (AMDV) can cause severe immune-complex-mediated disease in American mink. AMDV has also been detected in several other mustelid species with potential negative impact on their health and population. A molecular and cross-sectional epidemiological study was conducted to obtain data on the prevalence, distribution, transmission and diversity of AMDV strains in Finnish free-ranging mustelids and risk factors associated with infection. Read More

    Aleutian mink disease virus in striped skunks (Mephitis mephitis): evidence for cross-species spillover.
    J Wildl Dis 2015 Apr 3;51(2):389-400. Epub 2015 Feb 3.
    1  Environmental and Life Sciences, Trent University, 1600 W Bank Drive Peterborough, Ontario K9J 7B8, Canada.
    Aleutian mink disease virus (AMDV) causes a parvovirus infection, initially characterized in American mink (Neovison vison), that may have harmful effects on wild populations of susceptible animals. In North America, where American mink are native, the origin, host range, and prevalence of AMDV in wild species is not clear. We studied striped skunks (Mephitis mephitis) and raccoons (Procyon lotor) to determine whether species sympatric with mink are potential reservoirs in the transmission of AMDV to wild mink and mink farms. Read More

    Molecular epidemiology of Aleutian mink disease virus (AMDV) in Estonia, and a global phylogeny of AMDV.
    Virus Res 2015 Mar 20;199:56-61. Epub 2015 Jan 20.
    Department of Zoology, Institute of Ecology and Earth Sciences, University of Tartu, Vanemuise 46, 51014 Tartu, Estonia. Electronic address:
    Aleutian mink disease virus (AMDV) causes a severe disease called Aleutian disease (AD). AMDV infects primarily mustelids, but also other mammal species. Recent evidence suggests that AMDV may also affect humans. Read More

    Peripheral neuropathy and parkinsonism: a large clinical and pathogenic spectrum.
    J Peripher Nerv Syst 2014 Dec;19(4):333-42
    University of Bordeaux, Bordeaux, France; CNRS, Institut des Maladies Neurodégénératives, Bordeaux, France; Department of Pathology, Bordeaux University Hospital, Bordeaux, France.
    Peripheral neuropathy (PN) has been reported in idiopathic and hereditary forms of parkinsonism, but the pathogenic mechanisms are unclear and likely heterogeneous. Levodopa-induced vitamin B12 deficiency has been discussed as a causal factor of PN in idiopathic Parkinson's disease, but peripheral nervous system involvement might also be a consequence of the underlying neurodegenerative process. Occurrence of PN with parkinsonism has been associated with a panel of mitochondrial cytopathies, more frequently related to a nuclear gene defect and mainly polymerase gamma (POLG1) gene. Read More

    Infantile hemophagocytic lymphohistiocytosis in a case of chediak-higashi syndrome caused by a mutation in the LYST/CHS1 gene presenting with delayed umbilical cord detachment and diarrhea.
    J Pediatr Hematol Oncol 2015 Mar;37(2):e73-9
    Departments of *Clinical Immunology †Pathology ‡Hans Christian Andersen Children's Hospital, Odense University Hospital, Odense, Denmark.
    A 2-month-old female infant, born to consanguineous parents, presented with infections in skin and upper respiratory tract. She was notable for delayed umbilical cord detachment, partial albinism, and neurological irritability. Giant granules were present in white blood cells. Read More

    Characterization of a novel zebrafish (Danio rerio) gene, wdr81, associated with cerebellar ataxia, mental retardation and dysequilibrium syndrome (CAMRQ).
    BMC Neurosci 2015 Dec 23;16(1):96. Epub 2015 Dec 23.
    UNAM-Institute of Materials Science and Nanotechnology, Bilkent University, Ankara, Turkey.
    Background: WDR81 (WD repeat-containing protein 81) is associated with cerebellar ataxia, mental retardation and disequilibrium syndrome (CAMRQ2, [MIM 610185]). Human and mouse studies suggest that it might be a gene of importance during neurodevelopment. This study aimed at fully characterizing the structure of the wdr81 transcript, detecting the possible transcript variants and revealing its expression profile in zebrafish, a powerful model organism for studying development and disease. Read More

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