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
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
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: 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
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
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
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
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.
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: 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.
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.
