Gaucher Disease in a Two-Year-Old Girl with Hyperferritinemia: A Case Report
Jessica Sugiharto,
I Gusti Ayu Putu Eka Pratiwi,
I Gusti Lanang Sidiartha
Issue:
Volume 10, Issue 2, June 2022
Pages:
43-47
Received:
11 March 2022
Accepted:
14 April 2022
Published:
28 April 2022
Abstract: Gaucher Disease (GD) is the most prevalent inherited lysosomal storage disorder characterized by a glucocerebroside enzyme deficiency. This enzyme is a lysosomal hydrolase that plays a role in the breakdown of the glycosphingolipid complex. In general population, this disease is rare, with an incidence of about 0.39 to 5.80 per 100.000 birth and a prevalence of about 0.70 to 1.75 per 100.000 birth. We reported a two-year-old female patient who presented with a gradual increase of abdominal circumference and gum bleeding. There is a family history of third-degree consanguinity. Physical examination showed hepatosplenomegaly, and the laboratory results revealed the presence of hyperferritinemia and pancytopenia. Bone marrow biopsy revealed Gaucher cells. The diagnosis of GD was confirmed by a low level of glucocerebrosidase activity (0.27 uM/hr) and the presence of a homozygous mutation in exon 11 (c.1448T>C) of GBA gene, indicating an autosomal recessive GD. Conclusion: Early identification through clinical and histological findings in GD is critical. Children with unexplained hyperferritinemia and hepatosplenomegaly should be suspected of GD as one of the differential diagnosis. The early diagnosis of GD is the key to effective management, such as enzyme replacement, which may decrease its morbidity.
Abstract: Gaucher Disease (GD) is the most prevalent inherited lysosomal storage disorder characterized by a glucocerebroside enzyme deficiency. This enzyme is a lysosomal hydrolase that plays a role in the breakdown of the glycosphingolipid complex. In general population, this disease is rare, with an incidence of about 0.39 to 5.80 per 100.000 birth and a ...
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Contribution to the Struggle Against Chromosomal Abnormalities from Literature Review
Deh Zhou Patricia,
Goulai Bi You Etienne Bazago,
Montéomo Gnaté François,
Coulibaly Quidana Désirée,
Dieth Malika Joane Astrid,
Okon Abou Joël Landry,
Doukouré Brahima,
Diomandé Mohenou Isidore Jean-Marie,
Yao Gnangoran Victor
Issue:
Volume 10, Issue 2, June 2022
Pages:
48-52
Received:
31 March 2022
Accepted:
21 April 2022
Published:
7 May 2022
Abstract: Chromosomal abnormalities have a variable severity, which can range from lethality before birth to the need for permanent medical care. The objective of this work was to propose a strategy to the struggle against chromosomal abnormalities through Departments of cytogenetics from literature review. Several documents have been consulted on the activities of Departments (or Services) of cytogenetics in relation to health care, ethical, legal and social problems concerning chromosomal abnormalities. In addition there are teaching and international collaboration in the field of cytogenetics. The corresponding articles have been published in journals with editorial, reading and scientific committees. According to this literature review, Services of cytogenetics should emphasize appropriate technologies and affordable prices, which can reach a significant portion of the population. In these Services, genetic counseling respects the right to full information and possible solutions regarding chromosomal abnormalities. Prevention through community sensitization, screening of populations and the possibility of early diagnosis should be carried out. The teaching of cytogenetics is therefore the starting point from which programs to combat chromosomal abnormalities will be introduced. Departments of cytogenetics must be supported by regulatory structures constituted by the scientific, medical and non-professional communities. Research is an important component of medical cytogenetics as well as international collaboration. This work includes a set of coordinated actions whose implementation would deal with chromosomal abnormalities.
Abstract: Chromosomal abnormalities have a variable severity, which can range from lethality before birth to the need for permanent medical care. The objective of this work was to propose a strategy to the struggle against chromosomal abnormalities through Departments of cytogenetics from literature review. Several documents have been consulted on the activi...
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Agronomic, Yield and Fiber Quality Performance of Released Introduced Hybrid Cotton Varieties in Irrigated Agro Ecologies of Ethiopia
Donis Gurmessa,
Arkebe Gebregziabher,
Zerihun Desalegn,
Ridwan Mohammed
Issue:
Volume 10, Issue 2, June 2022
Pages:
53-58
Received:
24 March 2022
Accepted:
18 April 2022
Published:
19 May 2022
Abstract: In Ethiopia, although research on cotton improvement started as early as the mid 60`s, not much progress have been made to develop high yielding and quality fiber cotton varieties for production. Hence, the purpose of this work was to study the agronomic, yield and fiber quality performance of hybrid cotton varieties (YD-206, YD-203 and YD-211) along two local check varieties (Deltapine 90 and Stam 59A) for local registration and wider use. The experiment was carried out in a non-replicated single plot size of 10m x 10m across seven locations viz. Werer Agricultural Research Center, Amibara, Melkasedi, Gewane, Arbaminch, Shellie and Woyto. The results of this study indicated that, the three introduced hybrid cotton varieties gave higher seed cotton yield than the two local check varieties at all locations. Accordingly, the hybrid cotton varieties showed seed cotton yield advantage of 35.59% (YD-211), 35.54% (YD-206) and 29.43% (YD-223) over the best performed local check variety (Deltapine 90). Similarly lint yield and fiber length performances of the hybrids were superior to that of the local check varieties. Furthermore, agronomic and crop protection practices have to be determined to maximize production and productivity of these hybrids to ensure the profitability of the user and widen its acceptance.
Abstract: In Ethiopia, although research on cotton improvement started as early as the mid 60`s, not much progress have been made to develop high yielding and quality fiber cotton varieties for production. Hence, the purpose of this work was to study the agronomic, yield and fiber quality performance of hybrid cotton varieties (YD-206, YD-203 and YD-211) alo...
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