Albinism: modern molecular diagnosis

Carden, Susan M.; Boissy, Raymond E.; Schoettker, Pamela J.; Good, William V.

doi:10.1136/bjo.82.2.189

Cited by 46 publications

(43 citation statements)

References 66 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Visual development is delayed in the first years of life and is slower than normal to develop (King, Jackson, & Oetting, 1994). Refractive errors are common (Carden, Boissey, Schoettker, & Good, 1998;Hoeft, 1991;King et al, 1994), especially astigmatism. Poor vision may also affect the child's ability to process and act upon other information such as verbalisations and how peers interact with each other and play with toys.…”

Section: Play Behaviours and Albinismmentioning

confidence: 98%

A comparison of the interactive play behaviours between children with albinism and their siblings and children without albinism and their non-albino siblings

Javangwe

Mukondyo

2012

Early Child Development and Care

View full text Add to dashboard Cite

The study explored the nature of the interactive play behaviours of children with albinism and children without albinism and compared the interactive behaviours of both children with albinism and children without albinism. Naturalistic observations were conducted during periods of free play, using the interactive play behaviour checklist aided by video recordings, on three different days. The findings of the study showed that children without albinism showed more pro-social play behaviours, aggressive play behaviours, affiliative play behaviours and possession-related behaviours as compared to children with albinism. A significant difference was noted in the pro-social and possessionrelated play behaviours between the children with albinism and children without albinism. Children without albinism showed more interactive play behaviours as compared with the children with albinism. Both groups of children showed the same amount of aggressive and affiliative play behaviours, while children without albinism showed more pro-social and possession-related behaviours.

show abstract

Section: Play Behaviours and Albinismmentioning

confidence: 98%

A comparison of the interactive play behaviours between children with albinism and their siblings and children without albinism and their non-albino siblings

Javangwe

Mukondyo

2012

Early Child Development and Care

View full text Add to dashboard Cite

show abstract

“…A falta dessa enzima no melanócito bloqueia a via metabólica que leva a TYR até o pigmento melanina (Borges-Osório & Robinson 2001, Carden et al 1998. Nos búfalos da raça Murrah no sul do Brasil foi identificada uma mutação no gene da tirosinase, tendo sido demonstrado, através de análise molecular, a substituição de uma única base no nucleotídeo 1.431, da guanina pela adenina, o que levou a conversão do triptofano (TGG477) em stop codon (TGA477), resultando numa proteína inativa responsá-vel pelo fenótipo do albinismo óculo-cutâneo .…”

Section: Albinismounclassified

Doenças hereditárias e defeitos congênitos diagnosticados em búfalos (Bubalus bubalis) no Brasil

2013

View full text Add to dashboard Cite

Pesq. Vet. Bras. 33 (7) A review on hereditary diseases and/or congenital defects diagnosed in water buffaloes in Brazil is performed. The epidemiological, clinical and pathological aspects of each disease or group of diseases are briefly described. Hereditary diseases include acantholytic mechanobullous dermatosis, arthrogryposis, myotonia, hydranencephaly, chondrodysplasia, and albinism. Congenital defects of unknown cause include megaesophagus, heart defects (patent ductus arteriosus), dermatosparaxia, and different defects of the reproductive system. The breeds most affected by genetic diseases are those from Asian Continent (Murrah and Jafarabadi), probably as a result of inbreeding in Brazilian herds due the prohibition of importation of breeding buffalo from that continent. The diagnosis of two hereditary diseases, arthrogryposis and myotonia, in Rio Grande do Sul (southern Brazil) and Pará (nothern Brazil) suggests that the undesirable genes are widespread in the buffalo population. The identification of these genes by molecular techniques associated with the buffalo breeding with correct sanitary, zootechnical, and reproductive control practices can decrease the negative effects of genetic diseases in the Brazilian buffalo herd.

show abstract

“…actinic damage in albinism are evident in people living within tropical Africa 3 . The higher UVA and UVB doses and longer hours of sun exposure in tropical Africa has marginally shortened the life expectancy of people living with albinism compared to the rest of the population 3,4 .…”

mentioning

confidence: 99%

“…The higher UVA and UVB doses and longer hours of sun exposure in tropical Africa has marginally shortened the life expectancy of people living with albinism compared to the rest of the population 3,4 . Although, albinism affects 1 in 17000 people world-wide, countries like Zimbabwe, Namibia, Tanzania, Kenya and other Sub Saharan populations have incidences of albinism that are as high as 1 in less than 1000 people 4 .…”

mentioning

confidence: 99%

Untitled

2015

IJPSR

View full text Add to dashboard Cite

ABSTRACT:The skin penetration and safety of nanometric zinc oxide and titanium dioxide incorporated in a cosmeceutical cream, specifically designed to retard skin actinic damage in tropical Oculocutaneous albinism was investigated ex-vivo through simulated actinically damaged porcine skin. Franz diffusion cells were used in an experiment modeled in line with related work done by Diembeck et al (1999); the OECD guideline, document no 428 and the EU opinion SCCNFP 0750/03. The following experiment was distinguished by its use of simulated actinic damaged skin characteristic in albinism in the tropics. The subsequent analytical studies were modified, since skin stripping was not practical on damaged skin. Analysis for the nanomaterials was conducted on both the Franz cell receptor phase fluid as well as extractions from the entire skin tissue material after the diffusion process. Quantification analysis for the recovered titanium was done by ICP-AES and the zinc was assayed using Flame AAS. The total recoveries of zinc from the skin extracts ranged between101.35-103.20% of the total zinc applied. The amounts of zinc recovered were comparable in treated, untreated skin, and the receptor phase. Mean total recoveries of titanium for all categories ranged between 98.73% and 99.24%, of the total applied titanium. No titanium was found in the receptor phase. The results show that neither nanometric titanium nor zinc ions can penetrate both normal and actinically damaged porcine skin, thus, suggesting minimal systemic exposure when used in treatments for actinically damaged albinistic persons.

show abstract

Albinism: modern molecular diagnosis

Cited by 46 publications

References 66 publications

A comparison of the interactive play behaviours between children with albinism and their siblings and children without albinism and their non-albino siblings

A comparison of the interactive play behaviours between children with albinism and their siblings and children without albinism and their non-albino siblings

Doenças hereditárias e defeitos congênitos diagnosticados em búfalos (Bubalus bubalis) no Brasil

Untitled

Contact Info

Product

Resources

About