4,077 results match your criteria Albinism


Macrophage activation syndrome associated with griscelli syndrome type 2: case report and review of literature.

Pan Afr Med J 2018 25;29:75. Epub 2018 Jan 25.

Center for Hematology and Oncology Paediatrics, Children's hospital, Faculty of Medicine and Pharmacy, University Mohammed V, Rabat, Morocco.

Macrophage activation syndrome (MAS) is a severe and potentially fatal life-threatening condition associated with excessive activation and expansion of T cells with macrophages and a high expression of cytokines, resulting in an uncontrolled inflammatory response, with high levels of macrophage colony-stimulating factor and causing multiorgan damage. This syndrome is classified into primary (genetic/familial) or secondary forms to several etiologies, such as infections, neoplasias mainly hemopathies or autoimmune diseases. It is characterised clinically by unremitting high fever, pancytopaenia, hepatosplenomegaly, hepatic dysfunction, encephalopathy, coagulation abnormalities and sharply increased levels of ferritin. Read More

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June 2018
3 Reads

Membrane-associated human tyrosinase is an enzymatically active monomeric glycoprotein.

PLoS One 2018 5;13(6):e0198247. Epub 2018 Jun 5.

Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States of America.

Human tyrosinase (hTyr) is a Type 1 membrane bound glycoenzyme that catalyzes the initial and rate-limiting steps of melanin production in the melanosome. Mutations in the Tyr gene are linked to oculocutaneous albinism type 1 (OCA1), an autosomal recessive disorder. Currently, the application of enzyme replacement therapy for a treatment of OCA1 is hampered by the absence of pure hTyr. Read More

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June 2018
1 Read

Mutations in GPR143/OA1 and ABCA4 Inform Interpretations of Short-Wavelength and Near-Infrared Fundus Autofluorescence.

Invest Ophthalmol Vis Sci 2018 May;59(6):2459-2469

Department of Ophthalmology, Columbia University Medical Center, New York, New York, United States.

Purpose: We sought to advance interpretations and quantification of short-wavelength fundus autofluorescence (SW-AF) emitted from bisretinoid lipofuscin and near-infrared autofluoresence (NIR-AF) originating from melanin.

Methods: Carriers of mutations in X-linked GPR143/OA1, a common form of ocular albinism; patients with confirmed mutations in ABCA4 conferring increased SW-AF; and subjects with healthy eyes were studied. SW-AF (488 nm excitation, 500-680 nm emission) and NIR-AF (excitation 787 nm, emission >830 nm) images were acquired with a confocal scanning laser ophthalmoscope. Read More

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Visual Development During the Second Decade of Life in Albinism.

J Pediatr Ophthalmol Strabismus 2018 May 29:1-6. Epub 2018 May 29.

Purpose: To evaluate change in best corrected visual acuity (BCVA) during the second decade of life and the effects of albinism type and extraocular muscle surgery on BCVA in children with albinism.

Methods: In this retrospective longitudinal study, 41 patients with albinism with clinic visits recording binocular BCVA at least once between the ages of 10 and 13 years (visit A) and again between the ages of 17 and 20 years (visit B) were included. Type of albinism, age at each visit, and interval eye muscle surgeries were recorded for each patient. Read More

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Preimplantation genetic diagnosis as a strategy to prevent having a child born with an heritable eye disease.

Ophthalmic Genet 2018 May 21:1-7. Epub 2018 May 21.

a Department of Ophthalmology , Hadassah-Hebrew University Medical Center , Jerusalem , Israel.

Background: In developed countries, genetically inherited eye diseases are responsible for a high percentage of childhood visual impairment. We aim to report our experience using preimplantation genetic diagnostics (PGD) in order to avoid transmitting a genetic form of eye disease associated with childhood visual impairment and ocular cancer.

Material And Methods: Retrospective case series of women who underwent in vitro fertilization (IVF) and PGD due to a familial history of inherited eye disease and/or ocular cancer, in order to avoid having a child affected with the known familial disease. Read More

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Pigmentation and vision: Is GPR143 in control?

Authors:
Brian S McKay

J Neurosci Res 2018 May 14. Epub 2018 May 14.

Department of Ophthalmology and Vision Science, University of Arizona, Tucson, Arizona.

Albinism, typically characterized by decreased melanin synthesis, is associated with significant visual deficits owing to developmental changes during neurosensory retina development. All albinism is caused by genetic mutations in a group of diverse genes including enzymes, transporters, G-protein coupled receptor. Interestingly, these genes are not expressed in the neurosensory retina. Read More

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Behavioural changes controlled by catecholaminergic systems explain recurrent loss of pigmentation in cavefish.

Proc Biol Sci 2018 May;285(1878)

Department of Biology, University of Maryland, College Park, MD 20742, USA

Multiple cave populations of the teleost have repeatedly reduced or lost eye and body pigmentation during adaptation to dark caves. Albinism, the complete absence of melanin pigmentation, is controlled by loss-of-function mutations in the gene. The mutation is accompanied by an increase in the melanin synthesis precursor l-tyrosine, which is also a precursor for catecholamine synthesis. Read More

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May 2018
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Retinal detachment in albinism.

Clin Ophthalmol 2018 5;12:651-656. Epub 2018 Apr 5.

Department of Ophthalmology, Baskent University, Konya, Turkey.

Purpose: To report the visual and anatomic outcomes of albino retinal detachment (ARD) repair.

Methods: Collaborative retrospective analysis of ARD. Outcome measures were number of surgical interventions, final retinal reattachment, and best corrected visual acuity (BCVA) at last follow-up. Read More

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April 2018
4 Reads

Clinical characteristics and causes of visual impairment in a low vision clinic in northern Jordan.

Clin Ophthalmol 2018 3;12:631-637. Epub 2018 Apr 3.

Faculty of Applied Medical Sciences, Department of Allied Medical Sciences, Jordan University of Science and Technology, Irbid, Jordan.

Aim: The aim of the study was to identify causes of visual impairment among patients attending a low vision clinic in the north of Jordan and to study the relevant demographic characteristics of these patients.

Subjects And Methods: The retrospective study was conducted through a review of clinical records of 135 patients who attended a low vision clinic in Irbid. Clinical characteristics of the patients were collected, including age, gender, primary cause of low vision, best corrected visual acuity, and current prescribed low vision aids. Read More

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April 2018
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Identification of TYR mutations in patients with oculocutaneous albinism.

Mol Med Rep 2018 Jun 13;17(6):8409-8413. Epub 2018 Apr 13.

Department of Ophthalmology, Shanghai Tenth People's Hospital, Tongji Eye Institute, Tongji University School of Medicine, Shanghai 200092, P.R. China.

Oculocutaneous albinism (OCA) is a set of autosomal recessive disorders characterized by hypopigmented hair, skin and eyes. Homozygous or compound heterozygous mutations in the tyrosinase (TYR) gene can cause OCA1, which is the most common and severe subtype of albinism. In the present study, 17 patients with non‑syndromic OCA were enrolled from eight provinces of China and were non‑consanguineous, with the exception of Patient 4000301. Read More

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June 2018
2 Reads

[Analysis of clinical characteristics and genetic mutation in a pedigree affected with Chediak-Higashi syndrome].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2018 Apr;35(2):188-192

Department of Neonatology, Xi'an Children's Hospital, Xi'an, Shaanxi 710002, China.

Objective: To explore the genetic basis for a pedigree affected with Chediak-Higashi syndrome (CHS).

Methods: Clinical data of two CHS patients from the pedigree was collected and analyzed. Targeted next generation sequencing and Sanger sequencing were conducted to detect potential mutation of the LYST gene. Read More

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Cutaneous Cancers in Nigerian Albinos: A Review of 22 Cases.

Niger J Surg 2018 Jan-Jun;24(1):34-38

Department of Morbid Anatomy and Histopathology, Irrua Specialist Teaching Hospital, Irrua, Edo State, Nigeria.

Context: Albinism is an inherited disorder of hypopigmentation involving the skin, eyes, and hair. This disorder results in the absence or reduction in melanin production. There are two main types of albinism which are ocular albinism and oculocutaneous albinism. Read More

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April 2018
1 Read

Neglected tumor in a female with albinism.

Pan Afr Med J 2017 1;28:195. Epub 2017 Nov 1.

Medical School, Centro Universitário Barão de Mauá, Ribeirão Preto, São Paulo, Brazil.

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November 2017

Exosomes as a novel pathway for regulating development and diseases of the skin.

Biomed Rep 2018 Mar 31;8(3):207-214. Epub 2018 Jan 31.

Department of Geriatrics, Tongji Hospital of Shanghai Affiliated to Tongji University, Shanghai 200065, P.R. China.

Exosomes are one of the most potent intercellular communicators, which are able to communicate with adjacent or distant cells. Exosomes deliver various bioactive molecules, including membrane receptors, proteins, mRNA and microRNA, to target cells and serve roles. Recent studies have demonstrated that exosomes may regulate the functions and diseases of the skin, which is the largest organ of the human body. Read More

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March 2018
3 Reads

Spontaneous Nystagmus in the Dark in an Infantile Nystagmus Patient May Represent Negative Optokinetic Afternystagmus.

Front Neurol 2018 14;9:151. Epub 2018 Mar 14.

Department of Neurology, University Hospital Zurich, University of Zurich, Zurich, Switzerland.

Abnormal projection of the optic nerves to the wrong cerebral hemisphere transforms the optokinetic system from its usual negative feedback loop to a positive feedback loop with characteristic ocular motor instabilities including directional reversal of the optokinetic nystagmus (OKN) and spontaneous nystagmus, which are common features of infantile nystagmus syndrome (INS). Visual input plays a critical role in INS linked to an underlying optic nerve misprojection such as that often seen in albinism. However, spontaneous nystagmus often continues in darkness, making the visual, sensory-driven etiology questionable. Read More

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Mud-splattered fundus.

Indian J Ophthalmol 2018 04;66(4):573

Ocular Oncology Service, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, PA 19107, United States of America.

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April 2018
3 Reads

Hermansky-Pudlak syndrome type 2 manifests with fibrosing lung disease early in childhood.

Orphanet J Rare Dis 2018 Mar 27;13(1):42. Epub 2018 Mar 27.

Ludwig-Maximilians University, Dr von Haunersches Kinderspital, German Center for Lung Research (DZL), Lindwurmstr. 4, 80337, Munich, Germany.

Background: Hermansky-Pudlak syndrome (HPS), a hereditary multisystem disorder with oculocutaneous albinism, may be caused by mutations in one of at least 10 separate genes. The HPS-2 subtype is distinguished by the presence of neutropenia and knowledge of its pulmonary phenotype in children is scarce.

Methods: Six children with genetically proven HPS-2 presented to the chILD-EU register between 2009 and 2017; the data were collected systematically and imaging studies were scored blinded. Read More

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March 2018
3 Reads

CRISPR mutagenesis confirms the role of oca2 in melanin pigmentation in Astyanax mexicanus.

Dev Biol 2018 Mar 16. Epub 2018 Mar 16.

Department of Genetics, Development and Cell Biology, Iowa State University, 640 Science Hall II, Ames, IA 50011, USA. Electronic address:

Understanding the genetic basis of trait evolution is critical to identifying the mechanisms that generated the immense amount of diversity observable in the living world. However, genetically manipulating organisms from natural populations with evolutionary adaptations remains a significant challenge. Astyanax mexicanus exists in two interfertile forms, a surface-dwelling form and multiple independently evolved cave-dwelling forms. Read More

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March 2018
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Altered organization of the visual cortex in FHONDA syndrome.

Neuroimage 2018 Mar 8. Epub 2018 Mar 8.

Department of Ophthalmology, Otto-von-Guericke University, Magdeburg, Germany; Center for Behavioral Brain Sciences, Magdeburg, Germany. Electronic address:

A fundamental scheme in the organization of the early visual cortex is the retinotopic representation of the contralateral visual hemifield on each hemisphere. We determined the cortical organization in a novel congenital visual pathway disorder, FHONDA-syndrome, where the axons from the temporal retina abnormally cross to the contralateral hemisphere. Using ultra-high field fMRI at 7 T, the population receptive field (pRF) properties of the primary visual cortex were modeled for two affected individuals and two controls. Read More

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Molecular cloning and expression analysis of tyr and tyrp1 genes in normal and albino yellow catfish Tachysurus fulvidraco.

J Fish Biol 2018 Apr 20;92(4):979-998. Epub 2018 Feb 20.

Department of Aquatic Animal Medicines, College of Fisheries, Huazhong Agricultural University, Wuhan, Hubei, 430070, China.

The full-length complementary DNA of two genes related to vertebrate albinism, the tyrosinase gene tyr and tyrosinase-related protein 1 gene tyrp1, were cloned and analysed from normal and albino yellow catfish Tachysurus fulvidraco. The open reading frames (ORF) of tyr and tyrp1 encode putative peptides of 533 and 526 amino acids (amino-acid), both of which possess two conserved copper binding sites. The homologous identities of deduced amino-acid sequences showed that both Tyr and Tyrp1 of T. Read More

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Corrigendum: Proteome and Acetyl-Proteome Profiling of cv. 'Anji Baicha' during Periodic Albinism Reveals Alterations in Photosynthetic and Secondary Metabolite Biosynthetic Pathways.

Front Plant Sci 2018 7;9:147. Epub 2018 Feb 7.

Key Laboratory of Tea Biology and Resources Utilization, Ministry of Agriculture, National Center for Tea Improvement, Tea Research Institute of the Chinese Academy of Agricultural Sciences, Hangzhou, China.

[This corrects the article on p. 2104 in vol. 8, PMID: 29312376. Read More

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February 2018
3 Reads

Identification of Five Novel Variants in Chinese Oculocutaneous Albinism by Targeted Next-Generation Sequencing.

Genet Test Mol Biomarkers 2018 Apr 13;22(4):252-258. Epub 2018 Feb 13.

2 Prenatal Diagnosis Center, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital , Chengdu, Sichuan, P.R. China .

Background: The diagnosis of oculocutaneous albinism (OCA) is established using clinical signs and symptoms. OCA is, however, a highly genetically heterogeneous disease with mutations identified in at least nineteen unique genes, many of which produce overlapping phenotypic traits. Thus, differentiating genetic OCA subtypes for diagnoses and genetic counseling is challenging, based on clinical presentation alone, and would benefit from a comprehensive molecular diagnostic. Read More

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April 2018
6 Reads

Characteristics and Long-term Follow-up of Isolated Vertical Nystagmus in Infancy.

J Pediatr Ophthalmol Strabismus 2018 May 31;55(3):159-163. Epub 2018 Jan 31.

Purpose: To determine the clinical characteristics and long-term outcomes of infants who presented with isolated vertical nystagmus.

Methods: The medical records of 114 infants who were diagnosed as having nystagmus from 1996 to 2016 were screened. Patients with vertical nystagmus within the first year of life who had unremarkable magnetic resonance imaging of the brain and demonstrated age-appropriate visual behavior were included. Read More

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May 2018
1 Read

Oculocutaneous albinism with iridofundal coloboma.

BMJ Case Rep 2018 Jan 26;2018. Epub 2018 Jan 26.

Department of Ophthalmology, Dr Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences., New Delhi, India.

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January 2018
3 Reads

Nystagmus and Platinum Hair.

JAMA 2018 01;319(4):399-400

Department of Ophthalmology and Visual Sciences, W. K. Kellogg Eye Center, University of Michigan, Ann Arbor.

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January 2018
4 Reads

Molecular characterization of a series of 990 index patients with albinism.

Pigment Cell Melanoma Res 2018 Jul 14;31(4):466-474. Epub 2018 Feb 14.

Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France.

Albinism is a clinically and genetically heterogeneous disease characterized by variable degrees of hypopigmentation and by nystagmus, foveal hypoplasia, and chiasmatic misrouting of the optic nerves. The wide phenotypic heterogeneity impedes the establishment of phenotype-genotype correlations. To obtain a precise diagnosis, we screened the 19 known albinism genes in 990 index patients using targeted next-generation sequencing (NGS) and high-resolution comparative genomic hybridization. Read More

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July 2018
1 Read

Development of the Swimbladder Surfactant System and Biogenesis of Lysosome-Related Organelles Is Regulated by BLOS1 in Zebrafish.

Genetics 2018 03 16;208(3):1131-1146. Epub 2018 Jan 16.

Institute of Hydrobiology, Chinese Academy of Sciences, Wuhan 430072, China

Hermansky-Pudlak syndrome (HPS) is a human autosomal recessive disorder that is characterized by oculocutaneous albinism and a deficiency of the platelet storage pool resulting from defective biogenesis of lysosome-related organelles (LROs). To date, 10 HPS genes have been identified, three of which belong to the octamer complex BLOC-1 (biogenesis of lysosome-related organelles complex 1). One subunit of the BLOC-1 complex, BLOS1, also participates in the BLOC-1-related complex (BORC). Read More

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March 2018
1 Read

Children with albinism in African regions: their rights to 'being' and 'doing'.

BMC Int Health Hum Rights 2018 01 12;18(1). Epub 2018 Jan 12.

Institute of Clinical Sciences, University of Birmingham Edgbaston, Birmingham, B15 2TT, England.

Background: Albinism is an inherited condition with a relatively high prevalence in populations throughout sub-Saharan Africa. People with oculocutaneous albinism have little or no pigment in their hair, skin and eyes; thus they are visually impaired and extremely sensitive to the damaging effect of the sun on their skin. Aside from the health implications of oculocutaneous albinism, there are also significant sociocultural risks. Read More

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January 2018
3 Reads

Widespread dynamic and pleiotropic expression of the melanocortin-1-receptor (MC1R) system is conserved across chick, mouse and human embryonic development.

Birth Defects Res 2018 03 8;110(5):443-455. Epub 2018 Jan 8.

GMGF, Aix Marseille University, INSERM, UMR_S910, Marseille, France.

Background: MC1R, a G-protein coupled receptor with high affinity for alpha-melanocyte stimulating hormone (αMSH), modulates pigment production in melanocytes from many species and is associated with human melanoma risk. MC1R mutations affecting human skin and hair color also have pleiotropic effects on the immune response and analgesia. Variants affecting human pigmentation in utero alter the congenital phenotype of both oculocutaneous albinism and congenital melanocytic naevi, and have a possible effect on birthweight. Read More

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March 2018
5 Reads

Proteome and Acetyl-Proteome Profiling of cv. 'Anjin Baicha' during Periodic Albinism Reveals Alterations in Photosynthetic and Secondary Metabolite Biosynthetic Pathways.

Front Plant Sci 2017 11;8:2104. Epub 2017 Dec 11.

Key Laboratory of Tea Biology and Resources Utilization, Ministry of Agriculture, National Center for Tea Improvement, Tea Research Institute of the Chinese Academy of Agricultural Sciences, Hangzhou, China.

Tea leaf color is not only important from an aesthetics standpoint but is also related to tea quality. To investigate the molecular mechanisms that determine tea leaf color, we examined cv. 'Anjin Baicha' (an albino tea cultivar) by tandem mass tag isobaric labeling to generate a high-resolution proteome and acetyl-proteome atlas of three leaf developmental stages. Read More

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December 2017
2 Reads

Lower lip squamous cell carcinoma in patients with photosensitive disorders: Analysis of cases treated at the Brazilian National Cancer Institute (INCA) from 1999 to 2012.

Med Oral Patol Oral Cir Bucal 2018 Jan 1;23(1):e7-e12. Epub 2018 Jan 1.

Av. das Acacias, 150, bl.01, ap. 104 Barra da Tijuca, RJ, Brazil 22776000,

Background: Lower lip squamous cell carcinoma (LLSCC) is a common malignancy of the head and neck, being mainly a consequence of a chronic exposure to ultraviolet (UV) light solar radiation. Here, we evaluated the clinicopathological profile of patients with photosensitive disorders (xeroderma pigmentosum, lupus erythematosus and albinism) that developed LLSCC.

Material And Methods: Data from patients who had a diagnosed LLSCC with a prior xeroderma pigmentosum, lupus erythematosus or albinism diagnosis that were treated at INCA from 1999 to 2012 were collected from patients medical records (n=16). Read More

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January 2018
2 Reads

Failed Pneumatic Retinopexy for Rhegmatogenous Retinal Detachment Repair in Ocular Albinism: Clues to the Role of Melanin in Retinal Pigment Epithelium Pump Function.

Ophthalmic Surg Lasers Imaging Retina 2017 Dec;48(12):1016-1020

The authors report the first case, to their knowledge, of failed pneumatic retinopexy (PR) for rhegmatogenous retinal detachment (RRD) repair in a patient with ocular albinism (OA). The failure of PR to spontaneously resolve the subretinal fluid and reattach the retina in this case is suggestive of a deficiency in subretinal fluid reabsorption by the retinal pigment epithelium (RPE). These findings suggest that in cases of RRD in OA, primary PR should be avoided since this procedure relies on an adequately functioning RPE pump to reabsorb subretinal fluid prior to laser retinopexy. Read More

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December 2017
7 Reads

The outcome of cochlear implantation among children with genetic syndromes.

Eur Arch Otorhinolaryngol 2018 Feb 4;275(2):365-369. Epub 2017 Dec 4.

King Abdullah Ear Specialist Center (KAESC), College of Medicine, King Saud University, PO Box 245, Riyadh, 11411, Saudi Arabia.

Objective: To assess the outcome and efficacy of cochlear implantation in children with genetic syndromes.

Method: Study design: case-control study.

Setting: A cochlear implantation tertiary referral center. Read More

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February 2018
2 Reads

Therapeutic Role of Punica Granatum (Pomegranate) Seed Oil Extract on Bone Turnover and Resorption Induced in Ovariectomized Rats.

J Nutr Health Aging 2017 ;21(10):1299-1306

Nadia Z. Shaban, Department of Biochemistry, Faculty of Science, Alexandria University, Alexandria, Egypt,

Context: Postmenopausal osteoporosis is mostly caused by increased bone remodeling resulting from estrogen deficiency. Hormone replacement therapy (HRT) is used to prevent osteoporosis, but it increases the risk for breast cancer, thromboembolism, strokes, and heart attacks. Pomegranate seed oil extract (SOE) is rich in phytoestrogen and antioxidant compounds. Read More

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May 2018
2 Reads

Tissue-Specific Gene Inactivation in : Knockout of in the Kidney with CRISPR/Cas9.

Genetics 2018 02 29;208(2):673-686. Epub 2017 Nov 29.

Department of Pediatrics, Pediatric Research Center, University of Texas Health Science Center McGovern Medical School, Houston, Texas 77030

Studying genes involved in organogenesis is often difficult because many of these genes are also essential for early development. The allotetraploid frog, , is commonly used to study developmental processes, but because of the presence of two homeologs for many genes, it has been difficult to use as a genetic model. Few studies have successfully used CRISPR in amphibians, and currently there is no tissue-targeted knockout strategy described in The goal of this study is to determine whether CRISPR/Cas9-mediated gene knockout can be targeted to the kidney without perturbing essential early gene function. Read More

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February 2018
5 Reads

Targeted Base Editing via RNA-Guided Cytidine Deaminases in Xenopus laevis Embryos.

Mol Cells 2017 Nov 20;40(11):823-827. Epub 2017 Nov 20.

Department of Biomedical Sciences, University of Ulsan College of Medicine, Seoul 05505, Korea.

Genome editing using programmable nucleases such as CRISPR/Cas9 or Cpf1 has emerged as powerful tools for gene knock-out or knock-in in various organisms. While most genetic diseases are caused by point mutations, these genome-editing approaches are inefficient in inducing single-nucleotide substitutions. Recently, Cas9-linked cytidine deaminases, named base editors (BEs), have been shown to convert cytidine to uridine efficiently, leading to targeted single-base pair substitutions in human cells and organisms. Read More

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November 2017
3 Reads

[Clinical manifestation and gene analyses of 15 patients with intellectual disability or developmental delay complicated with congenital nystagmus].

Zhonghua Er Ke Za Zhi 2017 Nov;55(11):824-829

Department of Neurology, Children's Hospital Affiliated to Capital Institute of Pediatrics, Beijing 100020, China.

To analyze the clinical and genetic features of 15 cases with intellectual disability or developmental delay (ID/DD) complicated with congenital nystagmus. The clinical characteristics and the results of laboratory tests, images and genetics of 15 patients with ID/DD complicated with congenital nystagmus, confirmed by gene diagnosis in the Department of Neurology, Children's Hospital Affiliated to Capital Institute of Pediatrics from March 2015 to October 2016, were retrospectively analyzed. The physiological function of 13 disease genes and the molecular signaling pathways were also comparatively studied. Read More

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November 2017
3 Reads

Hermansky-Pudlak syndrome subtype 5 (HPS-5) novel mutation in a 65 year-old with oculocutaneous hypopigmentation and mild bleeding diathesis: The importance of recognizing a subtle phenotype.

Platelets 2018 Jan 1;29(1):91-94. Epub 2017 Nov 1.

a Division of Hematology, Department of Medicine , Mayo Clinic , Rochester , MN , USA.

Hermansky-Pudlak syndrome (HPS) - characterized by the distinct clinical phenotypes of both oculocutaneous albinism and mild bleeding diathesis-is caused by mutations in genes that have crucial roles in the assembly of cellular organelles (skin melanosomes, platelet delta [dense] granules, lung lamellar bodies, and cytotoxic T-cell lymphocyte granules). Immunodeficiency, pulmonary fibrosis and granulomatous colitis are associated with some, but not all subtypes of HPS, with varying degrees of clinical severity. We describe a patient diagnosed with platelet dense granule storage pool deficiency (DG-SPD) at age 38 years after he presented with spontaneous intracranial hemorrhage. Read More

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January 2018
5 Reads

Impact of healthcare strategies on patterns of paediatric sight impairment in a developed population: 1984-2011.

Eye (Lond) 2017 Nov 27;31(11):1537-1545. Epub 2017 Oct 27.

Department of Ophthalmology, Royal Victoria Hospital, Belfast, Northern Ireland, UK.

PurposeThe aim of our study was to analyse paediatric sight-impairment trends in Northern Ireland (NI) over a 28-year period to better understand the impact which changes in health-care provision may be having on childhood blindness and to enable us to assess our progress towards achieving the World Health Organisation (WHO) aims.MethodsA database of Certificates of Visual Impairment completed for NI children aged <16 years was used to determine the cause of sight impairment from 1984 to 2011. Causes were classified into preventable or treatable conditions and analysed for trends. Read More

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November 2017
1 Read

Characterization of melanosomes and melanin in Japanese patients with Hermansky-Pudlak syndrome types 1, 4, 6, and 9.

Pigment Cell Melanoma Res 2018 Mar 2;31(2):267-276. Epub 2017 Nov 2.

Department of Dermatology, Faculty of Medicine, Yamagata University, Yamagata, Japan.

Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by oculocutaneous albinism (OCA), a bleeding tendency, and ceroid deposition. Most of the causative genes for HPS encode subunits of the biogenesis of lysosome-related organelles complex (BLOC). In this study, we identified one patient each with HPS4, HPS6, and HPS9 by whole-exome sequencing. Read More

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March 2018
2 Reads

Structure and Function of Human Tyrosinase and Tyrosinase-Related Proteins.

Chemistry 2018 Jan 28;24(1):47-55. Epub 2017 Nov 28.

Laboratory of Biophysical Chemistry, University of Groningen, Nijenborgh 7, 9747 AG, Groningen, The Netherlands.

Melanin is the main pigment responsible for the color of human skin, hair and eye. Its biosynthesis requires three melanogenic enzymes, tyrosinase (TYR), and the tyrosinase-related proteins TYRP1 and TYRP2. The difficulty of isolating pure and homogeneous proteins from endogenous sources has hampered their study, and resulted in many contradictory findings regarding their physiological functions. Read More

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January 2018
2 Reads

Mutational analysis of a Chinese family with oculocutaneous albinism type 2.

Oncotarget 2017 Sep 31;8(41):70345-70355. Epub 2017 Jul 31.

Department of Laboratory Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China.

Oculocutaneous albinism (OCA) is an autosomal recessive disorder characterized by hypopigmentation of the skin, hair, and eyes accompanied with ophthalmologic abnormalities. Molecular genetic test can confirm the diagnosis of the four subtypes of OCA (OCA1-4). Herein, we report a Chinese family with two patients affected by OCA. Read More

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September 2017
1 Read

Hermansky-Pudlak syndrome: Report of two patients with updated genetic classification and management recommendations.

Pediatr Dermatol 2017 Nov 16;34(6):638-646. Epub 2017 Oct 16.

Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.

Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder caused by mutations in one of nine genes involved in the packaging and formation of specialized lysosomes, including melanosomes and platelet-dense granules. The cardinal features are pigmentary dilution, bleeding diathesis, and accumulation of ceroid-like material in reticuloendothelial cells. Pulmonary fibrosis induced by tissue damage is seen in the most severe forms, and one subtype is characterized by immunodeficiency. Read More

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November 2017
2 Reads

Rare germline variants in known melanoma susceptibility genes in familial melanoma.

Hum Mol Genet 2017 Dec;26(24):4886-4895

Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, Bethesda, MD, USA.

Known high-risk cutaneous malignant melanoma (CMM) genes account for melanoma risk in <40% of melanoma-prone families, suggesting the existence of additional high-risk genes or perhaps a polygenic mechanism involving multiple genetic modifiers. The goal of this study was to systematically characterize rare germline variants in 42 established melanoma genes among 144 CMM patients in 76 American CMM families without known mutations using data from whole-exome sequencing. We identified 68 rare (<0. Read More

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December 2017
7 Reads

New trends in childhood vision impairment in a developed country.

J AAPOS 2017 Dec 13;21(6):496-498. Epub 2017 Oct 13.

The Royal Victorian Eye and Ear Hospital, Melbourne; Department of Ophthalmology, The Royal Children's Hospital, Melbourne; Department of Paediatrics, University of Melbourne, Melbourne. Electronic address:

Background: The Education Vision Assessment Clinic (EVAC) is a unique statewide service that reviews school children 4-18 years of age with low vision in Victoria, Australia, to determine their eligibility for educational support. The purpose of this study was to identify causes of vision impairment in students in Victoria using data from the EVAC.

Methods: Data collected from students who attended the EVAC at the Royal Victorian Eye and Ear Hospital, Melbourne, between the years 2003 and 2012 inclusive, were analyzed retrospectively. Read More

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December 2017
1 Read

[Oculocutaneous and ocular albinism].

Hautarzt 2017 Nov;68(11):867-875

Stiftung Hochschulmedizin Dresden, Universitätsklinikum Carl Gustav Carus, Technische Universität Dresden, Dresden, Deutschland.

Albinism can be divided into oculocutaneous albinism (OCA) and ocular albinism (OA). In the differential diagnostics these can be distinguished from rarer syndromes with partial albinism, which are frequently associated with susceptibility to infections and neurological symptoms. The OCA is an autosomal recessive inherited disease of melanin biosynthesis, which leads to complete or partial loss of melanin in the skin, hair follicles and eyes. Read More

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November 2017
4 Reads

Managing actinic keratosis in primary care.

Practitioner 2016 10;260(1797):25-9

Actinic, or solar, keratosis is caused by chronic ultraviolet-induced damage to the epidermis. In the UK, 15-23% of individuals have actinic keratosis lesions. Risk factors include: advanced age; male gender; cumulative sun exposure or phototherapy; Fitzpatrick skin phototypes I-II; long-term immuno-suppression and genetic syndromes e. Read More

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October 2016
10 Reads

Detection of two non-synonymous SNPs in SLC45A2 on BTA20 as candidate causal mutations for oculocutaneous albinism in Braunvieh cattle.

Genet Sel Evol 2017 10 5;49(1):73. Epub 2017 Oct 5.

Chair of Animal Genetics and Husbandry, LMU Munich, Veterinaerstr. 13, 80539, Munich, Germany.

Background: Cases of albinism have been reported in several species including cattle. So far, research has identified many genes that are involved in this eye-catching phenotype. Thus, when two paternal Braunvieh half-sibs with oculocutaneous albinism were detected on a private farm, we were interested in knowing whether their phenotype was caused by an already known gene/mutation. Read More

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October 2017
1 Read