The high prevalence of genetic abnormalities (28.41 %) in our study strongly suggests the need for routine genetic testing and counseling prior to assisted reproduction in such population with idiopathic infertility, as a result may help determine the prognosis, as well as the choice of ART. Moreover it allows specific pre-implantation genetic testing to minimize the risk of transmitting genetic defects to offspring.
Peripheral T Cell Lymphoma (PTCL) is a group of lymphoid malignancies which has never been treated with any confidence as opposed to its counterpart B Cell Lymphomas. Despite the studies, which were retrospective, the results in the majority of cases were disappointing, taking into consideration the aggressive clinical course of the disease, so survival did not exceed 2 years in median. To assess the response, progression-free survival and overall survival rates at 5 years using a new intensive combination chemotherapy. Enrolled patients were diagnosed with PTCL, confirmed by a referenced pathologist, treated with the new chemotherapy ACEP X 6 (Doxorubicine 75 mg/m² on day 1 + Cyclophosphamide 1,200 mg/m² on day 1 + Etoposide 300 mg/m² on day 1 and Prednisolone 60 mg/m² from day 1 through day 5) and Ifosfamide X 4 (Ifosfamide 4 grams/m² on day 1) which were given after the completion of the first 6 cycles of ACEP. The study was performed at Al-Bairouni University Hospital, and the study was approved by the Syrian Association of Clinical Oncology. Twenty-five patients underwent the treatment. Most of them showed a complete response after the completion of the first six cycles (17/25) forming 68 % of patients, while another 5 patients became complete responders after the completion of treatment. Consequently, 22 patients are still living after 5 years, with an overall survival rate of 88 %. (ACEP) and Ifosfamide appears to be a good choice in PTCLs, in light of the good response and overall survival rates, taking into account the acceptable toxicity profile. However, a larger sample is needed to make it an acceptable new combination chemotherapy for PTCLs patients.
Treatment of primary central nervous system lymphoma (PCNSL) associates with low response rates and poor survival using conventional radio and chemotherapy. Due to its favorable toxicity profile, temozolomide has emerged as a new option for treatment of PCNSL in young patients. In this study, we report a series of PCNSL patients treated with an innovative regimen combining high dose of both cytarabine and methotrexate with temozolomide without radiotherapy or intrathecal chemotherapy. To evaluate a new intensive chemotherapy with temozolomide, trying to assess response and progression-free survival rates and if the results are promising, we are aiming at evaluating the overall survival (OS) taking into consideration the toxicity profile. The study was performed at Al Mowassa Charity Hospital in Damascus (Syria). Forty patients with histologically confirmed PCNSL median age 52 years (range 20-65) years were included. Biopsies were cultured, and a karyotyping was made in 32 patients. An induction chemotherapy was started, and methotrexate 3 gr/m² over 12 h on day 1, cytarabine 3 gr/m² every 12 h on day 1 and temozolomide 150 mg/m² from day 2 through day 6 with a total of 6 cycles were given on a monthly basis. Among the 40 patients included in the study, a complete response was observed in 34 patients (85%) and a partial response in the remaining 6 patients (15%). Disease progressed in 8 out of 40 patients (20%) while 32 patients are still living at 5 years making the OS reaching 77%. Grade II nephrotoxicity was observed in 2 patients while grade III and IV hematotoxicity was observed in 5 patients. High dose of both Ara-C and MTX combined with temozolomide appears to be a good choice in the treatment of PCNSL, in the light of good response and OS rates, taking into consideration the acceptable toxicity profile. However, a larger trial is needed to make it an acceptable new combination as a first line for PCNSL patients.
Summary
The outbreak of coronavirus disease 2019 (COVID-19) has put health systems worldwide under great pressure on numerous levels. COVID-19 is a heterogeneous situation where some people experience mild symptoms for which no serious intervention is needed, while others may experience serious situations ranging from acute respiratory distress syndrome (ARDS) or even respiratory failure and end organ damage. Serious COVID-19 cases may be complicated with a cytokine storm caused by hemophagocytic lymphohistocytosis, which is a life-threatening situation. Efforts should be directed to reveal accompanying diseases that may trigger the cytokine storm. Early diagnosis leads to a better understanding of how to deal with this emergency status; however, even with early intervention, outcomes are still very poor.
We report on a 13-year-old female with short stature, minimal axillary and pubic hair, no breast development, absence of uterus and ovaries, with the following karyotype on lymphocyte cultures: 46,X,t(Y;4)(q11.2;p16)[40]/45,X,der(4)t(Y;4)(q11.2;p16)[10]. Loss of the small derivative Y chromosome in 20% of the cells was also confirmed in skin fibroblast cultures. FISH analyses using Y centromere, SRY, subtelomere XpYp/XqYq, Y and 4 painting probes, confirmed the cytogenetic findings. High-resolution STS analyses using 40 markers covering the Y chromosome did not identify any deletion on the Y. However, de novo absence of the 4p subtelomeric region was noted by FISH, although this deletion was not revealed by Array-CGH at 1 Mb resolution, the last array clone being 0.35 or 1 Mb distal to the 4p FISH probe. The female phenotype of this patient must be due to the loss of the derivative Y chromosomes in some of her cells, especially the gonads, while the 4p subtelomeric deletion does not seem to contribute to her phenotype.
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