Karyotype prescription is based on clinical signs (or reasons for karyotype prescription) which are phenotypic manifestations associated with chromosomal abnormalities. The aim of this study was to establish a corresp...Karyotype prescription is based on clinical signs (or reasons for karyotype prescription) which are phenotypic manifestations associated with chromosomal abnormalities. The aim of this study was to establish a correspondence between karyotype indications and their results in patients. This was a retrospective study that was carried out in the Histology-Embryology-Cytogenetics laboratory of the University Hospital of Cocody-Abidjan from 2014 to 2019. 58 patient files were identified and included the indication or reason for prescribing a constitutional karyotype and the biological result obtained. An individual data sheet was used to collect the data. 17 reasons for prescription were identified and divided into 2 groups. Sexual ambiguity was the most frequent reason (29.3%). The first group (G1) represented the 10 reasons for which the karyotype results were normal. The second group (G2) corresponded of the 7 motives with normal or abnormal karyotype results. Several anomalies were listed according to these reasons: inversions, mosaics (anomalies of number and structure) and trisomy 21. The last was the most frequent chromosomal anomaly (69.24%). It was found in several reasons for karyotype prescription: malformations, neurological disorders, suspected trisomy and cardiac pathology. Several factors could explain these results, among which are the limits of the karyotype and the non-genetic causes that can induce these abnormal phenotypes. Complementary examinations to the karyotype are molecular cytogenetic techniques, notably fluorescence in situ hybridization (FISH) and array comparative genomic hybridization (Array-CGH).展开更多
Purpose: Insufficient epidemiological data on the prevalence of chromosomal abnormalities may hamper investments in research and interventions for better prevention and treatment of these major threats to the populati...Purpose: Insufficient epidemiological data on the prevalence of chromosomal abnormalities may hamper investments in research and interventions for better prevention and treatment of these major threats to the population in numerous countries. The aim of this literature review is to contribute to the popularization of cytogenetics. Methodology: This literature review is a text which contains, analyzes and organizes several referenced articles in French and English which have been selected from electronic databases. It provides a documentation of various activities and progress that have an interest in the field of cytogenetics. Results: In the context of cytogenetics, it is necessary to establish partnerships to strengthen infrastructures and produce quality results. The setting up of cytogenetic services and incentives for participatory research give space to the community in the production of knowledge and innovation, alongside researchers. It’s important to create biobanks, where samples of substances from the human body are collected for use in research into the causes and mechanisms of many diseases and their treatments. To carry out clinical trials aims at assessing the effectiveness of a therapeutic strategy, as is currently the case with the use of cytogenetic tests (karyotype, FISH, etc.) as tool of therapeutic decision and prognostic in cancer biology. The monitoring of the ethic of cytogenetic research projects allows protecting rights, security and welfare of subjects. To solve issues of data management and analysis such as the obstacle to the acquisition of tools and the insufficiency in the training of researchers. Furthermore, dissemination of research results will lead to better understanding of research results, greater public engagement in science and greater social respect for research. Conclusion: Cytogenetics can benefit from these actions such as the development of its research infrastructures and training programs for its workforce as well as the development of its clinical care. All this would have an impact on the population’s state of health.展开更多
Breast cancer is a major public health problem both in developed countries, where it represents the first female cancer, and in developing countries, where its incidence is increasing. Purpose: The authors report the ...Breast cancer is a major public health problem both in developed countries, where it represents the first female cancer, and in developing countries, where its incidence is increasing. Purpose: The authors report the results of a study whose objective was to describe the epidemiological and pathological features of women’s breast cancers in Ivory Coast. Material and Methods: This is a retrospective descriptive study on breast cancer histologically confirmed and made from the records of pathology laboratories of the University Hospital in Abidjan. The study period was 24 years (1984-2007). The parameters studied were: frequency, age, risk factors, the macroscopic and histological aspects. Results: Women’s breast cancer was the second cancer among women (13.69%) after cervical cancer and represented 6.51% of cancers. The average age was 45.21 years ranging from 10 years to 85 years. Subjects from 35 to 44 years were the most affected (30.7%) and 8% of patients were under 30 years (n=61). Multiparity (53.55%) and lower socioeconomic level (79.63%) were associated. At the macroscopic level nodular aspects represented 47.62% of cases (n=301). Carcinomas were 92% (n=710) of histological types with 94.36% (n=692) of invasive carcinomas. Sarcomas (5.7%), lymphoma (2.1%) and Paget’s disease (0.3%) were also observed. With regard to prognostic, the grading of Scarff-Bloom and Richardson showed 26.75% (n=156) grade I, 60.64% (n=354) grade II and 12.52% (n=73%) grade III. Conclusion: In consideration of prognosis of advanced forms, an effort should be made for diagnosis and early treatment of women’s breast cancer in Ivory Coast.展开更多
Bone tumors are infrequent within the scapula. Total scapulectomy with massive allograft reconstruction represents an attractive alternative to amputation when the whole scapula is invaded with tumor and the neurovasc...Bone tumors are infrequent within the scapula. Total scapulectomy with massive allograft reconstruction represents an attractive alternative to amputation when the whole scapula is invaded with tumor and the neurovascular bundle can be preserved during tumor resection. We report a case of resection of the scapula and proximal humerus for recurrent osteosarcoma with massive allograft reconstruction of the scapula and proximal humerus. A 22-year-old male patient was seen in February 1992 for a pathological fracture of the proximal left humerus. In July 1992, a resection of the proximal end of the humerus followed by a reconstruction with osteochondral allograft and nail osteosynthesis was performed. The postoperative course was uneventful. In September 2009, 17 years later, the patient presented with a huge tumor developed at the level of the scapula. There was no vascular or neurological symptom. Plain radiography showed an expansive osteolytic mass. CT scan demonstrated scapular and proximal humerus invasion. An extended assessment revealed the presence of two pulmonary nodules. The biopsy confirmed the recurrence of osteosarcoma. The indication of a resection of both the left scapula and the 1992 allograft which was completely invaded at its proximal portion and the complete reconstruction of the scapula and the proximal humerus with allograft was made. One year postoperatively, we note a favourable outcome in terms of musculoskeletal functions. Despite two resection surgeries of pulmonary nodules and chemotherapy treatments, the patient developed new lung metastases and an unfavourable outcome. Although shoulder function was almost completely eliminated following surgery, preservation of elbow, wrist and finger motion resulted in an acceptable level of postoperative limb function. This reconstruction appears to be an attractive technique to be used in similar cases. The necessity of a reliable tissue bank with quality allografts in sufficient number is paramount.展开更多
文摘Karyotype prescription is based on clinical signs (or reasons for karyotype prescription) which are phenotypic manifestations associated with chromosomal abnormalities. The aim of this study was to establish a correspondence between karyotype indications and their results in patients. This was a retrospective study that was carried out in the Histology-Embryology-Cytogenetics laboratory of the University Hospital of Cocody-Abidjan from 2014 to 2019. 58 patient files were identified and included the indication or reason for prescribing a constitutional karyotype and the biological result obtained. An individual data sheet was used to collect the data. 17 reasons for prescription were identified and divided into 2 groups. Sexual ambiguity was the most frequent reason (29.3%). The first group (G1) represented the 10 reasons for which the karyotype results were normal. The second group (G2) corresponded of the 7 motives with normal or abnormal karyotype results. Several anomalies were listed according to these reasons: inversions, mosaics (anomalies of number and structure) and trisomy 21. The last was the most frequent chromosomal anomaly (69.24%). It was found in several reasons for karyotype prescription: malformations, neurological disorders, suspected trisomy and cardiac pathology. Several factors could explain these results, among which are the limits of the karyotype and the non-genetic causes that can induce these abnormal phenotypes. Complementary examinations to the karyotype are molecular cytogenetic techniques, notably fluorescence in situ hybridization (FISH) and array comparative genomic hybridization (Array-CGH).
文摘Purpose: Insufficient epidemiological data on the prevalence of chromosomal abnormalities may hamper investments in research and interventions for better prevention and treatment of these major threats to the population in numerous countries. The aim of this literature review is to contribute to the popularization of cytogenetics. Methodology: This literature review is a text which contains, analyzes and organizes several referenced articles in French and English which have been selected from electronic databases. It provides a documentation of various activities and progress that have an interest in the field of cytogenetics. Results: In the context of cytogenetics, it is necessary to establish partnerships to strengthen infrastructures and produce quality results. The setting up of cytogenetic services and incentives for participatory research give space to the community in the production of knowledge and innovation, alongside researchers. It’s important to create biobanks, where samples of substances from the human body are collected for use in research into the causes and mechanisms of many diseases and their treatments. To carry out clinical trials aims at assessing the effectiveness of a therapeutic strategy, as is currently the case with the use of cytogenetic tests (karyotype, FISH, etc.) as tool of therapeutic decision and prognostic in cancer biology. The monitoring of the ethic of cytogenetic research projects allows protecting rights, security and welfare of subjects. To solve issues of data management and analysis such as the obstacle to the acquisition of tools and the insufficiency in the training of researchers. Furthermore, dissemination of research results will lead to better understanding of research results, greater public engagement in science and greater social respect for research. Conclusion: Cytogenetics can benefit from these actions such as the development of its research infrastructures and training programs for its workforce as well as the development of its clinical care. All this would have an impact on the population’s state of health.
文摘Breast cancer is a major public health problem both in developed countries, where it represents the first female cancer, and in developing countries, where its incidence is increasing. Purpose: The authors report the results of a study whose objective was to describe the epidemiological and pathological features of women’s breast cancers in Ivory Coast. Material and Methods: This is a retrospective descriptive study on breast cancer histologically confirmed and made from the records of pathology laboratories of the University Hospital in Abidjan. The study period was 24 years (1984-2007). The parameters studied were: frequency, age, risk factors, the macroscopic and histological aspects. Results: Women’s breast cancer was the second cancer among women (13.69%) after cervical cancer and represented 6.51% of cancers. The average age was 45.21 years ranging from 10 years to 85 years. Subjects from 35 to 44 years were the most affected (30.7%) and 8% of patients were under 30 years (n=61). Multiparity (53.55%) and lower socioeconomic level (79.63%) were associated. At the macroscopic level nodular aspects represented 47.62% of cases (n=301). Carcinomas were 92% (n=710) of histological types with 94.36% (n=692) of invasive carcinomas. Sarcomas (5.7%), lymphoma (2.1%) and Paget’s disease (0.3%) were also observed. With regard to prognostic, the grading of Scarff-Bloom and Richardson showed 26.75% (n=156) grade I, 60.64% (n=354) grade II and 12.52% (n=73%) grade III. Conclusion: In consideration of prognosis of advanced forms, an effort should be made for diagnosis and early treatment of women’s breast cancer in Ivory Coast.
文摘Bone tumors are infrequent within the scapula. Total scapulectomy with massive allograft reconstruction represents an attractive alternative to amputation when the whole scapula is invaded with tumor and the neurovascular bundle can be preserved during tumor resection. We report a case of resection of the scapula and proximal humerus for recurrent osteosarcoma with massive allograft reconstruction of the scapula and proximal humerus. A 22-year-old male patient was seen in February 1992 for a pathological fracture of the proximal left humerus. In July 1992, a resection of the proximal end of the humerus followed by a reconstruction with osteochondral allograft and nail osteosynthesis was performed. The postoperative course was uneventful. In September 2009, 17 years later, the patient presented with a huge tumor developed at the level of the scapula. There was no vascular or neurological symptom. Plain radiography showed an expansive osteolytic mass. CT scan demonstrated scapular and proximal humerus invasion. An extended assessment revealed the presence of two pulmonary nodules. The biopsy confirmed the recurrence of osteosarcoma. The indication of a resection of both the left scapula and the 1992 allograft which was completely invaded at its proximal portion and the complete reconstruction of the scapula and the proximal humerus with allograft was made. One year postoperatively, we note a favourable outcome in terms of musculoskeletal functions. Despite two resection surgeries of pulmonary nodules and chemotherapy treatments, the patient developed new lung metastases and an unfavourable outcome. Although shoulder function was almost completely eliminated following surgery, preservation of elbow, wrist and finger motion resulted in an acceptable level of postoperative limb function. This reconstruction appears to be an attractive technique to be used in similar cases. The necessity of a reliable tissue bank with quality allografts in sufficient number is paramount.
