कैंसर विज्ञान एवं चिकित्सा

1.1 Objective: The present study aims to analyze the quality of life of survivors of cervical cancer according to the menopausal status and the treatment modalities at the Institute National Oncology of Rabat.

1.2 Methods: Patients were interviewed with the specific questionnaire to patient with cervical cancer developed by the Organization of the European Commission for research and cancer treatment-Group Quality of life (EORTC QLQ-C30) and the EORTC Quality of Life Questionnaire (QLQ)-CX24andtranslated into Moroccan dialect.

1.3 Results: One hundred thirty-nine patients survivors cancer of the cervix and regularly followed participated in the study. Quality of life was significantly altered in postmenopausal patients in areas such as physical functioning (p=0.016), diarrhea and nausea vomiting (p=0.038), menopausal symptoms (p=0.01) and financial difficulties. Regarding sexual functioning, postmenopausal women reported less activity and sexual pleasure. The irradiated patients presented more symptoms such as diarrhea (p=0.018), lymphedema, and more financial difficulties (p=0.012) than those who did not. Symptoms such as diarrhea (p=0.038), pain (p=0.019) were significantly greater in those who underwent surgery associated with another treatment (irradiation) as well as insomnia, loss of appetite, constipation and financial difficulties (p=0.018). However, there was no significant difference in other areas of quality of life in our survivors of cervical cancer.

1.4 Conclusion: patients treated by several modalities for cervical cancer have an altered quality of life in various fields. However, in long term survivors, overall quality of life remains similar in patients operated and or irradiated. They must be informed by the various possible side effects that may affect the quality of life after treatment.

Wilms’ tumor (WT) is an embryonic tumor of kidney that belongs to paediatric age group. The etiopathology is highly complex due to interaction between genetic and epigenetic factors. The genetic heterogenecity of methylene tetrahydrofolate reductase (MTHFR) gene polymorphism increase “risk factor” of the disease. The present study has been designed to identify new gene variants single nucleotide polymorphism (SNP) of MTHFR using Sanger’s sequencing and decode the nucleotide sequences into corresponding amino acids to understand the translational events. Further, allele refractive mutation system with polymerase chain reaction (ARMS- PCR) was also used to confirm mutations (frequency) in the cases of WT and compare with age matched controls. Present findings reveals that genetic heterozygosity was observed in 20% cases of WT by substitution of nucleotide cytosine in to thymidine (C→T) followed by change of amino acid alanine is replaced by valine due to missence mutation. DNA sequencing data varies in different cases of WT that includes first case shows four new SNPs 1) nucleotide cytosine is substitute by thymidine (C→T) followed by change in amino acid alanine is replaced by valine, 2) thymidine change into adenine (T→A) results in isoleucine→asparagine, 3) cytosine is substitute by adenine (C→A) results in isoleucine→asparagine, and 4) thymidine is substitute by cytosine (T→C), where phenylalanine→serine. Similarly, Second and third case of WT again showing the missence mutation, where the nucleotide cytosine is substitute by thymidine (C→T) followed by alanine→valine and thymidine into adenine (T→A) followed by change in isoleucine→asparagine, respectively. Based on bioinformatics analysis, the 3D structure predicted that the mutation in MTHFR gene modulate the functional activity of ligand binding sites either with protein or methotrexate. Collective findings of PCR and DNA sequencing suggests that these new gene variants which has not been reported earlier might have interfere in folate-metabolism during DNA methylation and increase genetic susceptibility and “risk factor” in WT cases.

Schindler syndrome is an inherited genetic disorder that mainly causes neurological problems. Schindler's syndrome is caused by a mutation in the NAGA gene, which is located in the long arm of chromosome 22 as 22q13.2. Amniocentesis or chorionic villus sampling can be used to screen for the disease before birth. After birth, urine tests, along with blood tests and skin biopsies can be used to diagnose Schindler disease. Genetic testing is also always an option, since different forms of Schindler disease have been mapped to the same gene on chromosome 22; though different changes (mutations) of this gene are responsible for the infantile- and adult-onset forms of the disease. The Genetic testing Registry can be used to acquire information about the genetic tests for this condition.

Background: Parotid melanoma is a very rare disease. Primitive intra-parotid localization is unusual. We report the case of a patient with a parotid localization melanoma without a known primary. Case presentation: A 57-year-old woman who consulted for a progressively increasing left lateral cervical mass. A mass biopsy was performed. The histological and immunohistochemical analysis was in favor of melanoma. A complementary assessment in search of the primitive was without anomaly. The tumor is found to be unresectable after discussion of the case at a multidisciplinary consultation meeting. The therapeutic decision was to do palliative chemotherapy such as Carboplatine AUC2-Paclitaxel 80 mg/m2 J1J8J1=J21 given the deteriorated general condition of the patient. The median of overall survival was 10 weeks. Conclusion: Through this work, we have reported a rare and very aggressive case of intraparotid melanoma of unknown primary

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