Introduction: Nystagmus is a static ocular disorder characterized by an oscillatory, involuntary and rhythmic movement of eyes. In Libreville, no data on the subject is available. The purpose of this study is to descr...Introduction: Nystagmus is a static ocular disorder characterized by an oscillatory, involuntary and rhythmic movement of eyes. In Libreville, no data on the subject is available. The purpose of this study is to describe clinical characteristics of nystagmus in albinos living in Libreville. Methods: This is a descriptive, cross-sectional study including 43 albinos with oculocutaneous albinism and nystagmus during the period from February 01, 2017 to February 01, 2018. Variables studied were age, sex, visual acuity, objective refraction, characteristics of the nystagmus including morphology, direction, intensity and associated signs such as stiff neck and squint. Results: The mean age was 21.2 ± 17 years with a female-dominated ratio of 0.53. The visual acuity from afar without correction (AVLSC) was less than 3/10 in 88.4% of the cases. The most common ametropia was astigmatism in 51.2% of cases. Nystagmus was present in all albinos. The spring type was found in 69.7% of cases. The direction was horizontal in 67.4% of the cases and rotary in 32.6% of the cases. The intensity was moderate in 55.8% of cases. The blocking position was the primary near vision position in 69.7% of the cases. Nystagmus was associated with a stiff neck in 28% of the cases and strabismus in 48.8% of the cases. Conclusion: The albinos nystagmus living in Libreville is of the spring type, horizontal direction, of moderate intensity and calmed in the primary position in near vision.展开更多
The objective is to study the knowledge that albinos have on skin cancers, and their attitudes in terms of primary prevention and the screening practices for skin cancers in Burkina Faso. Methods: This is a cross-sect...The objective is to study the knowledge that albinos have on skin cancers, and their attitudes in terms of primary prevention and the screening practices for skin cancers in Burkina Faso. Methods: This is a cross-sectional and descriptive KAP study conducted from May 18<sup>th</sup> to July 7<sup>th</sup> 2015. It involved albinos aged at least 12 years. Their general knowledge, prevention attitudes and screening practices were considered. Results: All the responding albinos had already heard about skin cancers. Their main source of information was health workers (65.6%). They were showing at least two risk factors (99.2%) but only 68.3% affirmed having already undergone screening for skin cancer. Ignorance of the existence of screening was the main obstacle to it (16/26). The prevention means used was sun avoidance, the use of cream and protection clothing respectively in 84%, 41.5% and 51.2%. The skin lesions found were hyperpigmented macules (77.8%) then actinic keratosis (40.7%) and finally cheilitis (35.8%). We detected 4 cases of skin cancers confirmed by biopsy. Conclusion: Risk factors are frequent. Participation to screening is still insignificant. A lot is still to be done to extend the protection means. A good awareness-raising campaign and the accessibility to protection means remain for all, the best defense in the fight against skin cancers in albinos.展开更多
The made tea quality and chemical characteristics of 4 albinos cultivars were investigated. It shows that constitutes of micro-elements, contents of polyphenols and total amino acids in 4 samples are much different du...The made tea quality and chemical characteristics of 4 albinos cultivars were investigated. It shows that constitutes of micro-elements, contents of polyphenols and total amino acids in 4 samples are much different due to the biological diversity. The DPPH free radicals scavenging ability of the 4 albinos tea is also different. The free radicals scavenging rate has a significant positive correlation to the content of total polyphenols, total catechins, as well as C, CG, GCG, EGCG, but there is no positive relationship to the content of Zn, Se.展开更多
Albinism represents a set of genetic abnormalities characterized by a decrease or absence of melanin. Albinism in the black subject combines white skin and other morphological characteristics of the black race. Squamo...Albinism represents a set of genetic abnormalities characterized by a decrease or absence of melanin. Albinism in the black subject combines white skin and other morphological characteristics of the black race. Squamous cell carcinomas of the face in albinos are a common reason for consultation. Management remains most often complex. The objective of this work was to describe the management of a case of skin cancer of the face in an albino woman. She was a 26-year-old albino woman. She is a housewife and married. She consulted on 02/04/17 for a tumor of the right side. The tumour was about 6 cm in diameter and had been growing for 7 months. There was no palpable head and neck disease. The rest of the clinical examination was normal. The biopsy concluded that there was squamous cell carcinoma. The extension assessment had not found a secondary location. She received an excision of the tumor with a margin of 10 mm and a total skin graft. The trend has been favourable after three years. No recurrence was observed. The management of facial skin cancer should be the subject of a multidisciplinary consultation. Surgery occupies an important place in the therapeutic arsenal.展开更多
Leaf color mutants (LCMs) provide crucial insights into the regulatory mechanisms underlying chloroplast development,photo synthesis,and stre ss adaptation.In this study,we identified a temperature-sensitive albino mu...Leaf color mutants (LCMs) provide crucial insights into the regulatory mechanisms underlying chloroplast development,photo synthesis,and stre ss adaptation.In this study,we identified a temperature-sensitive albino mutant,tsa4,characterized by an albino phenotype at the seedling stage and abnormal chloroplast development at temperatures below 25℃.展开更多
Chloroplasts are essential for normal plant growth and development.In plants,pentatricopeptide repeat(PPR)proteins mediate RNA processing in chloroplasts.Here,we characterized a rice albino leaf 5(al5)mutant which exh...Chloroplasts are essential for normal plant growth and development.In plants,pentatricopeptide repeat(PPR)proteins mediate RNA processing in chloroplasts.Here,we characterized a rice albino leaf 5(al5)mutant which exhibits albinism during early leaf development.The MutMap+analysis and transformation experiments revealed that AL5 encodes a chloroplast-localized P-type PPR protein.The AL5 mutation resulted in the defective splicing of ribosomal protein L2(rpl2)and ribosomal protein S12(rps12),which are involved in the synthesis of chloroplast 50S and 30S ribosomal subunits,respectively.The RNA-electrophoretic mobility shift assay(REMSA)further demonstrated that AL5 directly binds to rpl2 transcripts.Finally,disruption of AL5 led to reduced expression of plastid-encoded polymerase(PEP)-dependent plastid genes and nuclear-encoded photosynthetic genes.Notably,the albino al5 mutant phenotype was regulated by low temperature.These results suggest that AL5 participates in plastid RNA splicing and plays an important role in chloroplast development in rice.展开更多
Background: Basal cell carcinoma (BCC) is the commonest malignancy among Caucasians in Europe, North America, and Australia. This study attempted to identify the prevalence, risk factors, and outcome of management of ...Background: Basal cell carcinoma (BCC) is the commonest malignancy among Caucasians in Europe, North America, and Australia. This study attempted to identify the prevalence, risk factors, and outcome of management of this problem in our region. Methods: All the patients with histologic diagnosis of BCC presenting to the University of Calabar Teaching Hospital, Calabar during the study period January 2000 to December 2009 were evaluated. Results: One hundred and fifty two patients (136 blacks, 16 albinos) were afflicted with skin malignancy, squamous cell carcinoma and BCC totaled 70 [SCC – 62, BCC – 8], and malignant melanoma (MM) – 16. Of the 8 patients, (3 males and 5 females, mean age 43 years, range 21-65 years) observed with BCC lesions, 2 (25%) were darkly pigmented and 6 (75%) were albinos. Most of the albinos who presented 3 decades before the darkly pigmented ranged in age from 21-60 years (mean 35.7 years). The lesions afflicted the head and neck region, 9 (82%), while 2 (18%) were observed on the upper limb. All the patients had excision with satisfactory results during the period of follow up that ranged from 6 months to 3 years (mean 13 months). Conclusion: BCC is an uncommon lesion in our region. Albinism and solar radiation were identified risk factors. Most of the albinos presented 3 decades earlier than the darkly pigmented. Early institution of preventive measures, early diagnosis, and treatment would result in better outcome.展开更多
Introduction: A rare genetic disease, albinism is globally characterized by specific deficits of the visual system associated with a variable hypopigmentation phenotype depending on the disruption of melanin productio...Introduction: A rare genetic disease, albinism is globally characterized by specific deficits of the visual system associated with a variable hypopigmentation phenotype depending on the disruption of melanin production [1]. It is linked to a hereditary defect in the biosynthesis of melanin. Disease results in a generalized decrease in the pigmentation of the appendages, skin and eyes [2]. The aim of this study is to determine the different refractive errors and the different macular anomalies during the OCT examination in oculocutaneous albinism at the CHU-IOTA. Patients and Method: We conducted a prospective study in patients over 10 years of age with oculocutaneous or ocular albinism who consulted at the CHU-IOTA between July 1, 2020, and September 30, 2021. Results: Over the period, 105 cases of oculocutaneous albinism were collected out of a total of 42,024 consultations, which corresponds to a frequency of 0.2%. The average age was 26.2 years, (11 years to 48 years). The sex ratio was 1.6. Astigmatism was the most found refractive error in 50.48% of cases, followed by myopia in 29.52% of cases and farsightedness in 20% of cases. The macular thickness between 251 - 350 was the most commonly found in both eyes, i.e. 47.25% on the right and 53.55% on the left. The bulging macula was the most frequent pathology on the OCT at the level of the two eyes, i.e. 41.42% on the right and 50.6% on the left. Conclusion: Following the visual impairments linked to albinism, early optical care and access to OCT are necessary. Thus the accompaniment of a subject with albinism and associations of albinism must be global and meet specific needs, in order to prevent or avoid ocular complications.展开更多
Carotenoids play an important role in many physiological processes in plants and the phytoene desaturase gene （PDS3） encodes one of the important enzymes in the carotenoid biosynthesis pathway. Here we report the id...Carotenoids play an important role in many physiological processes in plants and the phytoene desaturase gene （PDS3） encodes one of the important enzymes in the carotenoid biosynthesis pathway. Here we report the identification and analysis of a T-DNA insertion mutant of PDS3 gene. Functional complementation confirmed that both the albino and dwarfphenotypes ofthepds3 mutant resulted from functional disruption of the PDS3 gene. Chloroplast development was arrested at the proplastid stage in thepds3 mutant. Further analysis showed that high level ofphytoene was accumulated in the pds3 mutant. Addition of exogenous GA3 could partially rescue the dwarf phenotype, suggesting that the dwarf phenotype ofthepds3 mutant might be due to GA deficiency. Microarray and RT-PCR analysis showed that disrupting PDS3 gene resulted in gene expression changes involved in at least 20 metabolic pathways, including the inhibition of many genes in carotenoid, chlorophyll, and GA biosynthesis pathways. Our data suggest that the accumulated phytoene in the pds3 mutant might play an important role in certain negative feedbacks to affect gene expression of diverse cellular pathways.展开更多
In this study, molecular interactions of the ligands, quercetin, gallic acid, and metformin with various diabetes mellitus-related protein targets, such as glycogen phosphorylase and peroxisome proliferatoractivated r...In this study, molecular interactions of the ligands, quercetin, gallic acid, and metformin with various diabetes mellitus-related protein targets, such as glycogen phosphorylase and peroxisome proliferatoractivated receptor gamma, were assessed. It was revealed that quercetin possesses good binding affinity to both targets. Quercetin is a major constituent of methanolic extracts of Phyllanthus emblica fruit. The antihyperglycemic effect of quercetin in streptozotocin(STZ)-induced diabetic rats was examined. The isolated quercetin administered at a dose of 75 mg/kg body weight produced a maximum decrease of14.78% in blood glucose levels in the diabetic rats after 7 days of treatment. Furthermore, quercetin doses of 50 and 75 mg/kg were shown to significantly improve the profiles of triglycerides, high-density lipoprotein, very-low-density lipoprotein, low-density lipoprotein, and total cholesterol at the end of the study in STZ-induced diabetic rats. The administration of quercetin(25, 50, and 75 mg/kg body weight)daily for 28 days in STZ-induced diabetic rats resulted in a significant decrease in blood glucose and urine sugar levels, with a considerable rise in plasma insulin and hemoglobin levels. Therefore, quercetin is a potential drug with antidiabetic and antihyperglycemic action mediated by changes in the levels of glucose, cholesterol, and triglycerides as indicated by in silico and in vivo studies.展开更多
Green-revertible albino is a novel type of chlorophyll deficiency in rice （Oryza sativa L.）, which is helpful for further research in chlorophyll synthesis and chloroplast development to illuminate their molecular m...Green-revertible albino is a novel type of chlorophyll deficiency in rice （Oryza sativa L.）, which is helpful for further research in chlorophyll synthesis and chloroplast development to illuminate their molecular mechanism. In the previous study, we had reported a single recessive gene, gra（t）, controlling this trait on the long arm of chromosome 2. In this paper, we mapped the gra（t） gene using 1,936 recessive individuals with albino phenotype in the F2 population derived from the cross between themo-photoperiod-sensitive genic male-sterile （T/PGMS） line Pei＇ai 64S and the spontaneous mutant Qiufeng M. Eventually, it was located to a confined region of 42.4 kb flanked by two microsatellite markers RM2-97 and RM13553. Based on the annotation results of RiceGAAS system, 11 open reading frames （ORFs） were predicted in this region. Among them, ORF6 was the most possible gene related to chloroplast development, which encoded the chloroplast protein synthesis elongation factor Tu in rice. Therefore, we designated it as the candidate gene of gra（t）. Sequence analysis indicated that only one base substitution C to T occurred in the coding region, which caused a missense mutation （Thr to Ile） in gra（t） mutant. These results are very valuable for further study on gra（t） gene.展开更多
A green-revertible albino mutant-Qiufeng M was found from the japonica rice(Oryza sativa L.ssp.japonica)Qiufeng in the field.The first three leaves of the mutant were albino with some green.The leaf color became pale ...A green-revertible albino mutant-Qiufeng M was found from the japonica rice(Oryza sativa L.ssp.japonica)Qiufeng in the field.The first three leaves of the mutant were albino with some green.The leaf color became pale green since the fourth leaf and the glume had the same phenomenon as the first three leaves.The measuring data of the pigment content confirmed the visually observed results.It truly had a remarkable changing process in the leaf color in Qiufeng M.Comparison of the main agronomic characters between Qiufeng and Qiufeng M indicated that the neck length and grain weight showed significant difference at the 1%level,and other characters were not different.Genetic analysis showed that the green-revertible albino trait was controlled by a single recessive nucleic gene.Using 209 recessive mutant individuals in the F2 population derived from the cross Pei'ai 64S×Qiufeng M,a gene,tentatively named gra(t),was located between the SSR markers of RM475 and RM2-22 on the long arm of chromosome 2.The genetic distance were 17.3 cM and 2.9 cM respectively.展开更多
Albino mutants are useful genetic resource for studying chlorophyll biosynthesis and chloroplast development and cloning genes involved in these processes in plants. Here we report a novel rice mutant low temperature ...Albino mutants are useful genetic resource for studying chlorophyll biosynthesis and chloroplast development and cloning genes involved in these processes in plants. Here we report a novel rice mutant low temperature albino I （ltal） that showed albino leaves before 4-leaf stage when grown under temperature lower than 20℃, but developed normal green leaves under temperature higher than 24℃ or similar morphological phenotypes in dark as did the wild-type （WT）. Our analysis showed that the contents of chlorophylls and chlo- rophyll precursors were remarkably decreased in the Ital mutant under low temperature compared to WT. Transmission electron microscope observation revealed that chloroplasts were defectively developed in the albino ltal leaves, which lacked of well-stacked granum and contained less stroma lamellae. These results suggested that the ltal mutation may delay the light-induced thylakoid assembly under low temperature. Genetic analysis indicated that the albino phenotype was controlled by a single recessive locus. Through map-based approach, we finally located the Ltal gene to a region of 40.3 kb on the short arm of chromosome 11. There are 8 predicted open reading frames （ORFs） in this region and two of them were deleted in ltal genome compared with the WT genome. The further characterization of the Ltal gene would provide a good approach to uncover the novel molecular mechanisms involved in chloroplast development under low temperature stress.展开更多
To understand the molecular mechanisms underlying chloroplast development, we isolated and characterized the albino mutant emb1303-1 in Arabidopsis. The mutant displayed a severe dwarf phenotype with small albino rose...To understand the molecular mechanisms underlying chloroplast development, we isolated and characterized the albino mutant emb1303-1 in Arabidopsis. The mutant displayed a severe dwarf phenotype with small albino rosette leaves and short roots on a synthetic medium containing sucrose. It is pigment-deficient and seedling lethal when grown in soil. Embryo development was delayed in the mutant, although seed germination was not significantly impaired. The plastids of embl303-1 were arrested in early developmental stages without the classical stack of thylakoid membrane. Genetic and molecular analyses uncovered that the EMB1303 gene encodes a novel chloroplast-localized protein. Microarray and RT-PCR analyses revealed that a number of nuclear- and plastid-encoded genes involved in photosynthesis and chloroplast biogenesis were substantially downregulated in the mutant. Moreover, the accumulation of several major chloroplast proteins was severely compromised in emb1303-1. These results suggest that EMB1303 is essential for chloroplast development.展开更多
Objective: To investigate the efficacy of pomegranate(Punica granatum) peel extract as an alternative treatment on the white laboratory mice against giardiasis.Methods: Experimental animals were divided into five grou...Objective: To investigate the efficacy of pomegranate(Punica granatum) peel extract as an alternative treatment on the white laboratory mice against giardiasis.Methods: Experimental animals were divided into five groups, including Group A:control(infected untreated), Group B: infected and fed with pectin 7 days before infection, Group C: infected and fed with pectin starting from 7th day of infection,Group D: infected and fed with pomegranate peel extract 7 days before infection, and Group E: infected and fed with pomegranate peel extract starting from 7th day of infection.Results: Results from this study revealed that the prevention rate in the experimental groups reached approximately 50% by the 10 th day of using pomegranate peel extract.Moreover, stool cyst counts of groups showed a significant reduction in the shedding of cysts approximately 75.6% by day 20 post-infection. ELISA test showed a reduction in Giardia antigen in the stools of the experimental groups which received pomegranate peel extract. The cure rate of these groups was approximately 97.4% by 28 th day of infection.Conclusions: Our present findings indicated that the pomegranate peel extract proved to be valuable in prevention and treatment of Giardia lamblia infection. Further studies are required to determine the effective dose of pomegranate peel extract against Giardia lamblia infection.展开更多
Increase uric acid levels have been found in oxidative stress. Urate radicals do not react with oxygen to form another peroxy radical, thus increasing the efficacy of uric acid as an antioxidant. Therefore, this study...Increase uric acid levels have been found in oxidative stress. Urate radicals do not react with oxygen to form another peroxy radical, thus increasing the efficacy of uric acid as an antioxidant. Therefore, this study is designed to measure the level of uric acids and find out the relationship of uric acid with superoxide dismutase in induced hyperuricemic model. Forty male albino rats with an average weight of 180 ± 2 g were selected. The rats were grouped. The animals were fed on standard diet and given tap water ad libitum until treatment. Albino rats were divided into four groups. Group A(10)-control given only standard diet, group B(10) fed on 60% fructose with standard diet , group C(10) fed on fructose, standard diet and intraperitonially oxonic acid 250 mg/kg and group D (10) only on injection intraperotonially oxonic acid 250 mg/kg. At the end of study 10 mL of blood was drawn from heart of rats. Then blood was estimated for superoxide dismutase and uric acids done by kit methods randox-manual/Rx monza UA230/UA 233. Results: In Group C superoxide dismutase was found to be 32 % (244 mg/dL ± 2.23) more than control. In the same group the uric acid concentration was highly significantly correlated with control. Conclusion: The uric acid concentration increases when we take fructose up to 60% in our diet. It also increases superoxide dismutase concentration. More than this value may have inverse effect on the uric acid level and its role as an antioxidant may become inversed.展开更多
Objective:To evaluate the effect of sodium fluoride(NaF) on cytochemical distribution of proteins,DNA,and RNA in the gastrocnemius muscle of rat in experimental fluorosis.Methods: Young Sprague Dawley albino rats were...Objective:To evaluate the effect of sodium fluoride(NaF) on cytochemical distribution of proteins,DNA,and RNA in the gastrocnemius muscle of rat in experimental fluorosis.Methods: Young Sprague Dawley albino rats were administered with NaF at 30,45,and 75 mg/kg bw/ day subcutaneously for 15 and 30 days,respectively.The control animals were given the vehicle(1cc deionized double distilled water/kg bw/day).Results:In the first phase of 15 days experimentation,the gastrocnemius muscle of rats intoxicated with NaF at 30,45,and 75 mg /kg bw/ day showed decline in proteins including a amino acids as compared to control. In the second phase of 30 days experimentation,the muscle fibers of rat showed elevation in sarcolemmal and sarcoplasmic proteins in 30 mg NaF dose group,and angulated fibers exhibited increase in sarcolemmal proteins in 45 mg NaF group.The marginal regions of angular and rim fibers showed deeply stained rings of sarcoplasmic proteins whereas the split fibers were faindy stained in rats treated with NaF at 75 mg/kg bw/day for 30 days.In rats treated with NaF at 30 mg/kg bw/day for 15 days,the hypertrophied peripheral muscle fibers contained more DNA,however the atrophied fibers had more RNA.In 45 mg NaF group,RNA was located in sarcolemmal regions,while DNA content decreased as compared to control.In 75 mg NaF group,the muscle fibers had dark and light staining regions of DNA and RNA.In the 30 days of experimentation,the DNA level decreased whereas RNA content increased in the gastrocnemius muscle fibers of the rat treated with NaF at 30 mg/kg bw/day.In treatment group with NaF at 45 mg/kg bw/day,the RNA content slighdy declined in comparison to control,in all treatments for 15 days as well as in treatment group with NaF at 30 mg/kg bw/day for 30 days whereas the amount of DNA slightly increased as compared to treatment group with NaF at 75 mg/kg bw/day for 15 days.The highest dose group revealed elevated amount of RNA whereas DNA content remained stable.Conclusions:The findings of present study demonstrate that certain concentrations of fluoride can induce muscle lesions and damage DNA,RNA,and protein in muscle cells and excessive intake and accumulation of fluoride is therefore a serious risk factor for muscular abnormalities in fluorosis.展开更多
Objective:To evaluate the antineoplastic activity of Eucalyptus extract(EUE) against Ehrlich ascites carcinoma(EAC)in Swiss albino mice.Methods:Preliminary examination of four plant extracts(namely Eucalyptus,Costus,A...Objective:To evaluate the antineoplastic activity of Eucalyptus extract(EUE) against Ehrlich ascites carcinoma(EAC)in Swiss albino mice.Methods:Preliminary examination of four plant extracts(namely Eucalyptus,Costus,Azadirachla.Feroniai has been done by observing the reduction ability of number of EAC cells in previously inoculated Swiss alliino mice.Among them as EuE showed maximum capability,the whole study has been conducted with EuE only. Important parameters viz.enhancement of life span,reduction of average tumor weight etc.have been studied.In addition the effects of EuE on hematological parameters in both normal and EAC inoculated mice have been measured.Effect of EuE on normal peritoneal cells has also been studied.Results:EuE reduced tumor burden remarkably.It reduced the tumor growth rate and enhanced the life span of EAC bearing mice noticeably.It reversed back the hematological parameters towards normal,reduced the Irasplanlability of EAC cells and enhanced the immunomodulatory effects in mice.The host toxic effect of EuE in mice is minimum and mostly reversible with time.All such data have been compared with those obtained by running parallel experiments with bleomycin at dose 0.3 mg/kg(i.p.).Conclusions:The Eucalyptus extract may be considered as a potent anticancer agent for advanced researches.展开更多
Objective:To evaluate the hazardous effects of fried potato chips upon the retina of two developmental stages of the albino rats aged 7 and 14 days from parturition.Methods:Pregnant rats were arranged into two groups:...Objective:To evaluate the hazardous effects of fried potato chips upon the retina of two developmental stages of the albino rats aged 7 and 14 days from parturition.Methods:Pregnant rats were arranged into two groups:control pregnant rats and consequently their delivered newborns until reaching 7 and 14 days old from parturition and fried potato chips group in which pregnant rats at the 6th day of gestation maintained on diet formed of fried potato chips supplied from the market mixed with standard diet at a concentration of 50%per each till 7 and 14 postpartum.Three fold integrated approaches were adopted,namely,histological,ultrastructural and proteomic analysis.Results:Histological examination of the retina of the experimental offsprings revealed many histopathological changes,including massive degeneration,vacuolization and cell loss in the ganglion cell layer,as well as general reduction in retinal size.At the ultrastructural level,the retina of experimental offsprings exhibited number of deformities,including ill differentiated and degenerated nuclear layer,malformed and vacuolated pigment epithelium with vesiculated and fragmented rough endoplasmic reticulum,degenerated outer segment of photoreceptors,as well as swollen choriocapillaris and loss of neuronal cells.Proteomic analysis of retina of the two experimental developmental stages showed variations in the expressed proteins as a result of intoxication which illustrated the adverse toxic effects of fried potato chips upon the retina.Conclusions:It can be concluded that the effect of fried potato chips on the development of retina in rats may be due to the presence of acrylamide or its metabolite.展开更多
文摘Introduction: Nystagmus is a static ocular disorder characterized by an oscillatory, involuntary and rhythmic movement of eyes. In Libreville, no data on the subject is available. The purpose of this study is to describe clinical characteristics of nystagmus in albinos living in Libreville. Methods: This is a descriptive, cross-sectional study including 43 albinos with oculocutaneous albinism and nystagmus during the period from February 01, 2017 to February 01, 2018. Variables studied were age, sex, visual acuity, objective refraction, characteristics of the nystagmus including morphology, direction, intensity and associated signs such as stiff neck and squint. Results: The mean age was 21.2 ± 17 years with a female-dominated ratio of 0.53. The visual acuity from afar without correction (AVLSC) was less than 3/10 in 88.4% of the cases. The most common ametropia was astigmatism in 51.2% of cases. Nystagmus was present in all albinos. The spring type was found in 69.7% of cases. The direction was horizontal in 67.4% of the cases and rotary in 32.6% of the cases. The intensity was moderate in 55.8% of cases. The blocking position was the primary near vision position in 69.7% of the cases. Nystagmus was associated with a stiff neck in 28% of the cases and strabismus in 48.8% of the cases. Conclusion: The albinos nystagmus living in Libreville is of the spring type, horizontal direction, of moderate intensity and calmed in the primary position in near vision.
文摘The objective is to study the knowledge that albinos have on skin cancers, and their attitudes in terms of primary prevention and the screening practices for skin cancers in Burkina Faso. Methods: This is a cross-sectional and descriptive KAP study conducted from May 18<sup>th</sup> to July 7<sup>th</sup> 2015. It involved albinos aged at least 12 years. Their general knowledge, prevention attitudes and screening practices were considered. Results: All the responding albinos had already heard about skin cancers. Their main source of information was health workers (65.6%). They were showing at least two risk factors (99.2%) but only 68.3% affirmed having already undergone screening for skin cancer. Ignorance of the existence of screening was the main obstacle to it (16/26). The prevention means used was sun avoidance, the use of cream and protection clothing respectively in 84%, 41.5% and 51.2%. The skin lesions found were hyperpigmented macules (77.8%) then actinic keratosis (40.7%) and finally cheilitis (35.8%). We detected 4 cases of skin cancers confirmed by biopsy. Conclusion: Risk factors are frequent. Participation to screening is still insignificant. A lot is still to be done to extend the protection means. A good awareness-raising campaign and the accessibility to protection means remain for all, the best defense in the fight against skin cancers in albinos.
文摘The made tea quality and chemical characteristics of 4 albinos cultivars were investigated. It shows that constitutes of micro-elements, contents of polyphenols and total amino acids in 4 samples are much different due to the biological diversity. The DPPH free radicals scavenging ability of the 4 albinos tea is also different. The free radicals scavenging rate has a significant positive correlation to the content of total polyphenols, total catechins, as well as C, CG, GCG, EGCG, but there is no positive relationship to the content of Zn, Se.
文摘Albinism represents a set of genetic abnormalities characterized by a decrease or absence of melanin. Albinism in the black subject combines white skin and other morphological characteristics of the black race. Squamous cell carcinomas of the face in albinos are a common reason for consultation. Management remains most often complex. The objective of this work was to describe the management of a case of skin cancer of the face in an albino woman. She was a 26-year-old albino woman. She is a housewife and married. She consulted on 02/04/17 for a tumor of the right side. The tumour was about 6 cm in diameter and had been growing for 7 months. There was no palpable head and neck disease. The rest of the clinical examination was normal. The biopsy concluded that there was squamous cell carcinoma. The extension assessment had not found a secondary location. She received an excision of the tumor with a margin of 10 mm and a total skin graft. The trend has been favourable after three years. No recurrence was observed. The management of facial skin cancer should be the subject of a multidisciplinary consultation. Surgery occupies an important place in the therapeutic arsenal.
基金financially supported by the National Natural Science Foundation of China(Grant Nos.32341026 and 32171998)the Hunan Provincial Science and Technology Innovation Program,China(Grant No.2023NK1010)the Changsha Natural Science Foundation,China(Grant No.20209001).
文摘Leaf color mutants (LCMs) provide crucial insights into the regulatory mechanisms underlying chloroplast development,photo synthesis,and stre ss adaptation.In this study,we identified a temperature-sensitive albino mutant,tsa4,characterized by an albino phenotype at the seedling stage and abnormal chloroplast development at temperatures below 25℃.
基金supported by the Open Competition Program of Top Ten Critical Priorities of Agricultural Science and Technology Innovation for the 14th Five-Year Plan of Guangdong Province(2022SDZG05)the Guangdong Province Rural Revitalization Strategy Special Fund Seed Industry Revitalization Project(2022-NJS-15-001)the Key-Area Research and Development Program of Guangdong Province(2022B0202060005).
文摘Chloroplasts are essential for normal plant growth and development.In plants,pentatricopeptide repeat(PPR)proteins mediate RNA processing in chloroplasts.Here,we characterized a rice albino leaf 5(al5)mutant which exhibits albinism during early leaf development.The MutMap+analysis and transformation experiments revealed that AL5 encodes a chloroplast-localized P-type PPR protein.The AL5 mutation resulted in the defective splicing of ribosomal protein L2(rpl2)and ribosomal protein S12(rps12),which are involved in the synthesis of chloroplast 50S and 30S ribosomal subunits,respectively.The RNA-electrophoretic mobility shift assay(REMSA)further demonstrated that AL5 directly binds to rpl2 transcripts.Finally,disruption of AL5 led to reduced expression of plastid-encoded polymerase(PEP)-dependent plastid genes and nuclear-encoded photosynthetic genes.Notably,the albino al5 mutant phenotype was regulated by low temperature.These results suggest that AL5 participates in plastid RNA splicing and plays an important role in chloroplast development in rice.
文摘Background: Basal cell carcinoma (BCC) is the commonest malignancy among Caucasians in Europe, North America, and Australia. This study attempted to identify the prevalence, risk factors, and outcome of management of this problem in our region. Methods: All the patients with histologic diagnosis of BCC presenting to the University of Calabar Teaching Hospital, Calabar during the study period January 2000 to December 2009 were evaluated. Results: One hundred and fifty two patients (136 blacks, 16 albinos) were afflicted with skin malignancy, squamous cell carcinoma and BCC totaled 70 [SCC – 62, BCC – 8], and malignant melanoma (MM) – 16. Of the 8 patients, (3 males and 5 females, mean age 43 years, range 21-65 years) observed with BCC lesions, 2 (25%) were darkly pigmented and 6 (75%) were albinos. Most of the albinos who presented 3 decades before the darkly pigmented ranged in age from 21-60 years (mean 35.7 years). The lesions afflicted the head and neck region, 9 (82%), while 2 (18%) were observed on the upper limb. All the patients had excision with satisfactory results during the period of follow up that ranged from 6 months to 3 years (mean 13 months). Conclusion: BCC is an uncommon lesion in our region. Albinism and solar radiation were identified risk factors. Most of the albinos presented 3 decades earlier than the darkly pigmented. Early institution of preventive measures, early diagnosis, and treatment would result in better outcome.
文摘Introduction: A rare genetic disease, albinism is globally characterized by specific deficits of the visual system associated with a variable hypopigmentation phenotype depending on the disruption of melanin production [1]. It is linked to a hereditary defect in the biosynthesis of melanin. Disease results in a generalized decrease in the pigmentation of the appendages, skin and eyes [2]. The aim of this study is to determine the different refractive errors and the different macular anomalies during the OCT examination in oculocutaneous albinism at the CHU-IOTA. Patients and Method: We conducted a prospective study in patients over 10 years of age with oculocutaneous or ocular albinism who consulted at the CHU-IOTA between July 1, 2020, and September 30, 2021. Results: Over the period, 105 cases of oculocutaneous albinism were collected out of a total of 42,024 consultations, which corresponds to a frequency of 0.2%. The average age was 26.2 years, (11 years to 48 years). The sex ratio was 1.6. Astigmatism was the most found refractive error in 50.48% of cases, followed by myopia in 29.52% of cases and farsightedness in 20% of cases. The macular thickness between 251 - 350 was the most commonly found in both eyes, i.e. 47.25% on the right and 53.55% on the left. The bulging macula was the most frequent pathology on the OCT at the level of the two eyes, i.e. 41.42% on the right and 50.6% on the left. Conclusion: Following the visual impairments linked to albinism, early optical care and access to OCT are necessary. Thus the accompaniment of a subject with albinism and associations of albinism must be global and meet specific needs, in order to prevent or avoid ocular complications.
基金the National Natural Science Foundation of China （Grant No. 30470172）.
文摘Carotenoids play an important role in many physiological processes in plants and the phytoene desaturase gene （PDS3） encodes one of the important enzymes in the carotenoid biosynthesis pathway. Here we report the identification and analysis of a T-DNA insertion mutant of PDS3 gene. Functional complementation confirmed that both the albino and dwarfphenotypes ofthepds3 mutant resulted from functional disruption of the PDS3 gene. Chloroplast development was arrested at the proplastid stage in thepds3 mutant. Further analysis showed that high level ofphytoene was accumulated in the pds3 mutant. Addition of exogenous GA3 could partially rescue the dwarf phenotype, suggesting that the dwarf phenotype ofthepds3 mutant might be due to GA deficiency. Microarray and RT-PCR analysis showed that disrupting PDS3 gene resulted in gene expression changes involved in at least 20 metabolic pathways, including the inhibition of many genes in carotenoid, chlorophyll, and GA biosynthesis pathways. Our data suggest that the accumulated phytoene in the pds3 mutant might play an important role in certain negative feedbacks to affect gene expression of diverse cellular pathways.
基金the DST-SERB Major Research Project,New Delhi,India[Project File No.SB/YS/LS-109/2014]for funding this projectthe Management of A.V.V.M.Sri Pushpam College(Autonomous)+1 种基金Poondi,and Sharmila Institute of Medicinal Products Research Academy(SIMPRA)Thanjavur,India,for providing necessary facilities and support in carrying out this work
文摘In this study, molecular interactions of the ligands, quercetin, gallic acid, and metformin with various diabetes mellitus-related protein targets, such as glycogen phosphorylase and peroxisome proliferatoractivated receptor gamma, were assessed. It was revealed that quercetin possesses good binding affinity to both targets. Quercetin is a major constituent of methanolic extracts of Phyllanthus emblica fruit. The antihyperglycemic effect of quercetin in streptozotocin(STZ)-induced diabetic rats was examined. The isolated quercetin administered at a dose of 75 mg/kg body weight produced a maximum decrease of14.78% in blood glucose levels in the diabetic rats after 7 days of treatment. Furthermore, quercetin doses of 50 and 75 mg/kg were shown to significantly improve the profiles of triglycerides, high-density lipoprotein, very-low-density lipoprotein, low-density lipoprotein, and total cholesterol at the end of the study in STZ-induced diabetic rats. The administration of quercetin(25, 50, and 75 mg/kg body weight)daily for 28 days in STZ-induced diabetic rats resulted in a significant decrease in blood glucose and urine sugar levels, with a considerable rise in plasma insulin and hemoglobin levels. Therefore, quercetin is a potential drug with antidiabetic and antihyperglycemic action mediated by changes in the levels of glucose, cholesterol, and triglycerides as indicated by in silico and in vivo studies.
基金supported by the National High-tech Research and Development Program of China (863 Program) (No. 2006AA100101)the National Science and Technology Support Program (No. 2006BAD01A01-5)+1 种基金Special Program for Rice Scientific Research of Ministry of Agriculture (No. nyhyzx 07-001-006)Super Rice Breeding and Demonstration Program of Ministry of Agriculture, and Jiangsu Selfinnovation Fund for Agricultural Science and Technology (No. CX[08]603).
文摘Green-revertible albino is a novel type of chlorophyll deficiency in rice （Oryza sativa L.）, which is helpful for further research in chlorophyll synthesis and chloroplast development to illuminate their molecular mechanism. In the previous study, we had reported a single recessive gene, gra（t）, controlling this trait on the long arm of chromosome 2. In this paper, we mapped the gra（t） gene using 1,936 recessive individuals with albino phenotype in the F2 population derived from the cross between themo-photoperiod-sensitive genic male-sterile （T/PGMS） line Pei＇ai 64S and the spontaneous mutant Qiufeng M. Eventually, it was located to a confined region of 42.4 kb flanked by two microsatellite markers RM2-97 and RM13553. Based on the annotation results of RiceGAAS system, 11 open reading frames （ORFs） were predicted in this region. Among them, ORF6 was the most possible gene related to chloroplast development, which encoded the chloroplast protein synthesis elongation factor Tu in rice. Therefore, we designated it as the candidate gene of gra（t）. Sequence analysis indicated that only one base substitution C to T occurred in the coding region, which caused a missense mutation （Thr to Ile） in gra（t） mutant. These results are very valuable for further study on gra（t） gene.
基金supported by the Major Research Program on Technology of Agricultural Structure Adjustment(No.05-01-05B)Jiangsu High Technology Program(No.BG2004301,BG2004304,and BG2005301).
文摘A green-revertible albino mutant-Qiufeng M was found from the japonica rice(Oryza sativa L.ssp.japonica)Qiufeng in the field.The first three leaves of the mutant were albino with some green.The leaf color became pale green since the fourth leaf and the glume had the same phenomenon as the first three leaves.The measuring data of the pigment content confirmed the visually observed results.It truly had a remarkable changing process in the leaf color in Qiufeng M.Comparison of the main agronomic characters between Qiufeng and Qiufeng M indicated that the neck length and grain weight showed significant difference at the 1%level,and other characters were not different.Genetic analysis showed that the green-revertible albino trait was controlled by a single recessive nucleic gene.Using 209 recessive mutant individuals in the F2 population derived from the cross Pei'ai 64S×Qiufeng M,a gene,tentatively named gra(t),was located between the SSR markers of RM475 and RM2-22 on the long arm of chromosome 2.The genetic distance were 17.3 cM and 2.9 cM respectively.
基金supported by the grants from the National Basic Research Program of China(No.2009CB119000)the Ministry of Agriculture of China for Transgenic Research (Nos.2011ZX08009-003,2011ZX08001-005)the National Science Foundation of China(Nos.31000094,30970246, 31100188 and 31161130533)
文摘Albino mutants are useful genetic resource for studying chlorophyll biosynthesis and chloroplast development and cloning genes involved in these processes in plants. Here we report a novel rice mutant low temperature albino I （ltal） that showed albino leaves before 4-leaf stage when grown under temperature lower than 20℃, but developed normal green leaves under temperature higher than 24℃ or similar morphological phenotypes in dark as did the wild-type （WT）. Our analysis showed that the contents of chlorophylls and chlo- rophyll precursors were remarkably decreased in the Ital mutant under low temperature compared to WT. Transmission electron microscope observation revealed that chloroplasts were defectively developed in the albino ltal leaves, which lacked of well-stacked granum and contained less stroma lamellae. These results suggested that the ltal mutation may delay the light-induced thylakoid assembly under low temperature. Genetic analysis indicated that the albino phenotype was controlled by a single recessive locus. Through map-based approach, we finally located the Ltal gene to a region of 40.3 kb on the short arm of chromosome 11. There are 8 predicted open reading frames （ORFs） in this region and two of them were deleted in ltal genome compared with the WT genome. The further characterization of the Ltal gene would provide a good approach to uncover the novel molecular mechanisms involved in chloroplast development under low temperature stress.
文摘To understand the molecular mechanisms underlying chloroplast development, we isolated and characterized the albino mutant emb1303-1 in Arabidopsis. The mutant displayed a severe dwarf phenotype with small albino rosette leaves and short roots on a synthetic medium containing sucrose. It is pigment-deficient and seedling lethal when grown in soil. Embryo development was delayed in the mutant, although seed germination was not significantly impaired. The plastids of embl303-1 were arrested in early developmental stages without the classical stack of thylakoid membrane. Genetic and molecular analyses uncovered that the EMB1303 gene encodes a novel chloroplast-localized protein. Microarray and RT-PCR analyses revealed that a number of nuclear- and plastid-encoded genes involved in photosynthesis and chloroplast biogenesis were substantially downregulated in the mutant. Moreover, the accumulation of several major chloroplast proteins was severely compromised in emb1303-1. These results suggest that EMB1303 is essential for chloroplast development.
文摘Objective: To investigate the efficacy of pomegranate(Punica granatum) peel extract as an alternative treatment on the white laboratory mice against giardiasis.Methods: Experimental animals were divided into five groups, including Group A:control(infected untreated), Group B: infected and fed with pectin 7 days before infection, Group C: infected and fed with pectin starting from 7th day of infection,Group D: infected and fed with pomegranate peel extract 7 days before infection, and Group E: infected and fed with pomegranate peel extract starting from 7th day of infection.Results: Results from this study revealed that the prevention rate in the experimental groups reached approximately 50% by the 10 th day of using pomegranate peel extract.Moreover, stool cyst counts of groups showed a significant reduction in the shedding of cysts approximately 75.6% by day 20 post-infection. ELISA test showed a reduction in Giardia antigen in the stools of the experimental groups which received pomegranate peel extract. The cure rate of these groups was approximately 97.4% by 28 th day of infection.Conclusions: Our present findings indicated that the pomegranate peel extract proved to be valuable in prevention and treatment of Giardia lamblia infection. Further studies are required to determine the effective dose of pomegranate peel extract against Giardia lamblia infection.
文摘Increase uric acid levels have been found in oxidative stress. Urate radicals do not react with oxygen to form another peroxy radical, thus increasing the efficacy of uric acid as an antioxidant. Therefore, this study is designed to measure the level of uric acids and find out the relationship of uric acid with superoxide dismutase in induced hyperuricemic model. Forty male albino rats with an average weight of 180 ± 2 g were selected. The rats were grouped. The animals were fed on standard diet and given tap water ad libitum until treatment. Albino rats were divided into four groups. Group A(10)-control given only standard diet, group B(10) fed on 60% fructose with standard diet , group C(10) fed on fructose, standard diet and intraperitonially oxonic acid 250 mg/kg and group D (10) only on injection intraperotonially oxonic acid 250 mg/kg. At the end of study 10 mL of blood was drawn from heart of rats. Then blood was estimated for superoxide dismutase and uric acids done by kit methods randox-manual/Rx monza UA230/UA 233. Results: In Group C superoxide dismutase was found to be 32 % (244 mg/dL ± 2.23) more than control. In the same group the uric acid concentration was highly significantly correlated with control. Conclusion: The uric acid concentration increases when we take fructose up to 60% in our diet. It also increases superoxide dismutase concentration. More than this value may have inverse effect on the uric acid level and its role as an antioxidant may become inversed.
文摘Objective:To evaluate the effect of sodium fluoride(NaF) on cytochemical distribution of proteins,DNA,and RNA in the gastrocnemius muscle of rat in experimental fluorosis.Methods: Young Sprague Dawley albino rats were administered with NaF at 30,45,and 75 mg/kg bw/ day subcutaneously for 15 and 30 days,respectively.The control animals were given the vehicle(1cc deionized double distilled water/kg bw/day).Results:In the first phase of 15 days experimentation,the gastrocnemius muscle of rats intoxicated with NaF at 30,45,and 75 mg /kg bw/ day showed decline in proteins including a amino acids as compared to control. In the second phase of 30 days experimentation,the muscle fibers of rat showed elevation in sarcolemmal and sarcoplasmic proteins in 30 mg NaF dose group,and angulated fibers exhibited increase in sarcolemmal proteins in 45 mg NaF group.The marginal regions of angular and rim fibers showed deeply stained rings of sarcoplasmic proteins whereas the split fibers were faindy stained in rats treated with NaF at 75 mg/kg bw/day for 30 days.In rats treated with NaF at 30 mg/kg bw/day for 15 days,the hypertrophied peripheral muscle fibers contained more DNA,however the atrophied fibers had more RNA.In 45 mg NaF group,RNA was located in sarcolemmal regions,while DNA content decreased as compared to control.In 75 mg NaF group,the muscle fibers had dark and light staining regions of DNA and RNA.In the 30 days of experimentation,the DNA level decreased whereas RNA content increased in the gastrocnemius muscle fibers of the rat treated with NaF at 30 mg/kg bw/day.In treatment group with NaF at 45 mg/kg bw/day,the RNA content slighdy declined in comparison to control,in all treatments for 15 days as well as in treatment group with NaF at 30 mg/kg bw/day for 30 days whereas the amount of DNA slightly increased as compared to treatment group with NaF at 75 mg/kg bw/day for 15 days.The highest dose group revealed elevated amount of RNA whereas DNA content remained stable.Conclusions:The findings of present study demonstrate that certain concentrations of fluoride can induce muscle lesions and damage DNA,RNA,and protein in muscle cells and excessive intake and accumulation of fluoride is therefore a serious risk factor for muscular abnormalities in fluorosis.
基金Supported by University Grant Commission,Dhaka,Bangladeshfor JA Khanam(Grant No.(676)UCC/Chemistry/(10)2007-2008/3269)
文摘Objective:To evaluate the antineoplastic activity of Eucalyptus extract(EUE) against Ehrlich ascites carcinoma(EAC)in Swiss albino mice.Methods:Preliminary examination of four plant extracts(namely Eucalyptus,Costus,Azadirachla.Feroniai has been done by observing the reduction ability of number of EAC cells in previously inoculated Swiss alliino mice.Among them as EuE showed maximum capability,the whole study has been conducted with EuE only. Important parameters viz.enhancement of life span,reduction of average tumor weight etc.have been studied.In addition the effects of EuE on hematological parameters in both normal and EAC inoculated mice have been measured.Effect of EuE on normal peritoneal cells has also been studied.Results:EuE reduced tumor burden remarkably.It reduced the tumor growth rate and enhanced the life span of EAC bearing mice noticeably.It reversed back the hematological parameters towards normal,reduced the Irasplanlability of EAC cells and enhanced the immunomodulatory effects in mice.The host toxic effect of EuE in mice is minimum and mostly reversible with time.All such data have been compared with those obtained by running parallel experiments with bleomycin at dose 0.3 mg/kg(i.p.).Conclusions:The Eucalyptus extract may be considered as a potent anticancer agent for advanced researches.
文摘Objective:To evaluate the hazardous effects of fried potato chips upon the retina of two developmental stages of the albino rats aged 7 and 14 days from parturition.Methods:Pregnant rats were arranged into two groups:control pregnant rats and consequently their delivered newborns until reaching 7 and 14 days old from parturition and fried potato chips group in which pregnant rats at the 6th day of gestation maintained on diet formed of fried potato chips supplied from the market mixed with standard diet at a concentration of 50%per each till 7 and 14 postpartum.Three fold integrated approaches were adopted,namely,histological,ultrastructural and proteomic analysis.Results:Histological examination of the retina of the experimental offsprings revealed many histopathological changes,including massive degeneration,vacuolization and cell loss in the ganglion cell layer,as well as general reduction in retinal size.At the ultrastructural level,the retina of experimental offsprings exhibited number of deformities,including ill differentiated and degenerated nuclear layer,malformed and vacuolated pigment epithelium with vesiculated and fragmented rough endoplasmic reticulum,degenerated outer segment of photoreceptors,as well as swollen choriocapillaris and loss of neuronal cells.Proteomic analysis of retina of the two experimental developmental stages showed variations in the expressed proteins as a result of intoxication which illustrated the adverse toxic effects of fried potato chips upon the retina.Conclusions:It can be concluded that the effect of fried potato chips on the development of retina in rats may be due to the presence of acrylamide or its metabolite.
