Xeroderma pigmentosum and acute myeloid leukemia: a case report.

BACKGROUND: Xeroderma pigmentosum is a rare inherited disease characterized by extreme hypersensitivity to ultraviolet rays and predisposing to cutaneous malignancies that can appear in childhood. These manifestations are often associated with ocular lesions and sometimes with neurological disorders. The association of xeroderma pigmentosum with internal neoplasms such as acute myeloblastic leukemia is not reported with great frequency, which confirms the rarity of this occurrence. CASE REPORT: A 26-year-old Moroccan women, xeroderma pigmentosum patient, was diagnosed with acute myeloblastic leukemia with a complex karyotype. Due to the adverse risk of the xeroderma pigmentosum association with acute myeloblastic leukemia and the profile of acute myeloblastic leukemia with complex karyotype and monosomy 7, which constitute factors of poor prognosis, as well as the absence of studies conceding the tolerance of the chemotherapy by patients suffering from xeroderma pigmentosum, our patient was put under low-dose cytarabine protocol with granulocyte colony-stimulating factor. Unfortunately, she died on the tenth day of chemotherapy by acute pulmonary edema of cardiogenic pace complicated by tamponade. CONCLUSION: According to reports, it is the second case showing association of xeroderma pigmentosum with acute myeloblastic leukemia. The management of these patients remains a challenge. Studies focusing on xeroderma pigmentosum patients developing hematological malignancies are necessary to better understand the most appropriate strategies and precautions for this specific case.

[Quality of "crisis communication" media during the COVID-19 pandemic in the Great Maghreb countries]. / Qualité des supports de communication de crise lors de la pandémie de la COVID-19 au Grand Maghreb.

OBJECTIVE: To objectively assess the quality of "crisis communication" media, during the COVID-19 pandemic, in the three Greater Maghreb countries (Tunisia, Algeria, Morocco). METHODS: A compliance audit for press releases and epidemiological bulletins was analyzed against a quality benchmark, which had been specifically designed by the authors. This framework, made up of five dimensions and 50 items, graded (0/1), was applied by two researchers in preventive medicine. Multiplying the scores by a coefficient of two resulted in a partial score of 20 points for each dimension and a total score of 100 points for the checklist taken as a whole. The quality of the communication media was considered to be good when exceeding the thresholds of 15/20 for the different dimensions and 75/100 for the entire grid. RESULTS: A total of 141 information media were included in this audit (Tunisia: 60; Algeria: 60; Morocco: 21). The overall median quality score for these media was only 56/100 (IIQ: [46-58]), without major variability between countries. The most appreciated dimension was "maintaining the confidence of the population", with an overall median score of 14/20 (12/20 for epidemiological bulletins and 16/20 for press releases). The most poorly rated dimension was "strengthening community participation", with a median score of only 4/20 (6/20 for epidemiological bulletins and 4/20 for press releases). CONCLUSION: The quality of the Maghreb crisis communication media during COVID-19 was insufficient in most of its dimensions and items, particularly from a psychosocial standpoint. Reinforcement of the capacities of communication officers to develop information material and supports during health crises is indispensable and should be considered as an urgent matter.

[Relationship between left ventricular diastolic dysfunction and coronary disease in type 2 diabetes mellitus]. / Relation entre la dysfonction diastolique du ventricule gauche et la présence d'atteintes coronaires chez le sujet diabétique type 2.

INTRODUCTION: Type 2 diabetes is associated with an increased risk of coronary disease and is the leading cause of morbidity and mortality in this population. The main objective of our work is to study the correlation of diastolic function of the left ventricle with coronary disease in type 2 diabetics. MATERIAL AND METHODS: Analytical cross-sectional, monocentric prospective-looking study of 703 type 2 diabetic patients performed at the Military Regional Hospital of Constantine over a period of 04 years (2016-2019). We excluded 338 patients who did not receive coronary angiography; thus 365 patients are ultimately analyzed. Evaluation of diastolic function was performed by two-dimensional transthoracic echocardiography with the search of coronary disease. The data was analyzed using the Epi Info 7.2.1.0 with study of the relationship of the diastolic function to coronary disease by multiple logistic regression. RESULTS: The average age of our final cohort is 57,7±6,5 years, an average of 7.4±1.8% of glycated hemoglobin, an average of 5,8±4,1 years of diabetes, a sex ratio to 1.27. 49.3% had diastolic dysfunction. The prevalence of coronary disease is 32,9%. In multivariate analysis; diastolic dysfunction is correlated with coronary involvement significantly (OR=2.02, 95% CI [1.50 - 2.90], p=0.02). CONCLUSION: The prevalence of diastolic dysfunction is high in type 2 diabetics and is significantly correlated with coronary heart disease.

Peripheral Medulloepithelioma: A Rare Entity to Know.

According to the World Health Organization, medulloepithelioma belongs to the embryonal neoplasm entity. It is a very rare, highly malignant tumor typically affecting infants and young children. Usually, the tumor arises in the eye or in the central nervous system; a peripheral location has been rarely reported without an established treatment. The recognition and separation of this neoplasm from other differential tumors are mandatory for better understanding of its biology and determination of optimal treatment. This paper reports a case of an ectopic intrapelvic medulloepithelioma with liver metastasis in a 3-year-old girl.

Worldwide Network for Blood and Marrow Transplantation (WBMT) recommendations for establishing a hematopoietic stem cell transplantation program in countries with limited resources (Part II): Clinical, technical and socio-economic considerations.

The development of hematopoietic stem cell transplantation (HSCT) programs can face significant challenges in most developing countries because such endeavors must compete with other government health care priorities, including the delivery of basic services. While this is may be a limiting factor, these countries should prioritize development of the needed expertise to offer state of the art treatments including transplantation, by providing financial, technological, legal, ethical and other needed support. This would prove beneficial in providing successful programs customized to the needs of their population, and potentially provide long-term cost-savings by circumventing the need for their citizens to seek care abroad. Costs of establishing HSCT program and the costs of the HSCT procedure itself can be substantial barriers in developing countries. Additionally, socioeconomic factors intrinsic to specific countries can influence access to HSCT, patient eligibility for HSCT and timely utilization of HSCT center capabilities. This report describes recommendations from the Worldwide Network for Blood and Marrow Transplantation (WBMT) for establishing HSCT programs with a specific focus on developing countries, and identifies challenges and opportunities for providing this specialized procedure in the resource constrained setting.

Outcome of Acute Myeloid Leukemia in Children Adolescents and Young Adults Treated with an Uniform Protocol in Casablanca, Morocco.

Treatment of acute myeloblastic leukemia in children, adolescents and young adults (AYA) is a challenge in low-income countries. To evaluate treatment outcomes of children (≤ 15 years) and AYA (15-30 years) diagnosed with novo AML and treated in a single center according to the AML-MA 2011 protocol. From January 2011 to December 2015, eligible patients (age ≤ 30 years) with novo AML had been enrolled on a uniform treatment protocol. The diagnosis was confirmed according to the FAB classification using the WHO 2008 criteria. Patients with WBC ≥ 50 G/L had pretreated 4 days of hydroxyurea followed by two inductions and two consolidations. Supportive care consisted of transfusion of labile blood products, antibiotics and antifungals, and patient and family education by the hygiene team. 155 patients were recruited, 41 were < 15 years old (22 boys, median age 7.8 years). Of the 114 AYA enrolled, (48 women, median age 23 years). Complete remission after two inductions was 28/41 (68.3%) of the children, including 100% of the children in the favorable group and 71/114 (62.3%) of the AYA, 22 of whom (68.7%) were in the favorable group. The number of deaths among children was 6 (14.6%). The evaluation of the AML-MA-2011 National Protocol in the age groups of children and AYA reveals that the objective of treatment is almost achieved in terms of complete remission in the two age groups.

Evaluation of a novel multiplex RT-qPCR assay for the quantification of leukemia-associated BCR-ABL1 translocation.

Although monitoring of BCR-ABL1 translocation has become an established practice in the management of chronic myeloid leukemia (CML), the detection limit of the BCR-ABL1 transcripts needs more standardization. The aim of the present study was to evaluate the clinical performances of a novel assay for the quantification of BCR-ABL1 fusion transcripts (e13a2 and e14a2) and ABL1 in a single reaction. This assay is based on the real-time reverse transcription polymerase chain reaction (RT-qPCR) in multiplex format. In a retrospective comparative clinical study performed in a reference laboratory, RNA was extracted from 48 CML patient blood samples with various BCR-ABL1/ABL1 ratios and RT-qPCR was performed using either MAScIR assay or the RT-qPCR simplex reference assay used in routine clinical testing. The comparative clinical results showed high qualitative and quantitative concordance (correlation coefficient >0.95) between MAScIR and the reference assays. The present study illustrates the utility of MAScIR assay as a sensitive, rapid, and cost-effective quantitative device to monitor the BCR-ABL1 ratios by RT-qPCR on whole blood of diagnosed Philadelphia chromosome-positive (Ph+) leukemia patients. This test could be used as an aid in the assessment of molecular response to available treatments.

Quantitative real-time polymerase chain reaction as an efficient molecular tool for detecting minimal residual disease in Moroccan chronic myeloid leukemia patients.

Chronic myeloid leukemia (CML) is characterized by BCR-ABL translocation and an increased number and migration of immature myeloid cells into the peripheral blood. The detection limit of the BCR-ABL transcript, particularly after treatment, is controversial. In the present study, we used quantitative real-time reverse transcription-polymerase chain reaction (RT-qPCR) to monitor BCR-ABL expression in Moroccan CML patients undergoing imatinib treatment, and compared the results with those of conventional PCR and fluorescence in situ hybridization (FISH). The aim of this study was to establish a new molecular tool for in vitro diagnosis of CML. In a retrospective comparative analysis, 20 CML Moroccan patients who had received imatinib treatment (N = 20) were analyzed by real-time PCR, conventional RT-PCR, and FISH. Half of the samples analyzed (N = 10) were positive for BCR-ABL gene expression, while the other half (N = 10) were negative according to conventional PCR. Interestingly, 5 of the 10 samples shown to be negative by conventional PCR showed positive expression of the BCR-ABL gene according to RT-qPCR. The RT-qPCR results were confirmed by FISH, which revealed a high concordance (100%) rate. We found that real-time RT-qPCR is more reliable and should be used in Moroccan biomedical analysis laboratories to monitor CML progression, particularly for minimal residual disease, following imatinib treatment.

The immunophenotype of adult T acute lymphoblastic leukemia in Morocco.

BACKGROUND: There is paucity of detailed studies of adult T cell acute lymphoblastic leukemia (T-ALL) in developing countries reflecting the condition of these patients including clinical and biological features. OBJECTIVE: This study was carried out to analyze the immunophenotypic characteristics of 40 Moroccan patients with T-ALL and its association with biological and clinical features. PATIENTS AND METHODS: Between 2006 and 2009, 130 adult patients diagnosed with acute lymphoblastic leukemia (ALL) were immunophenotyped by 3-color flow cytometry using a panel of monoclonal antibodies. Cases presenting features of a T-lineage phenotype were subjected to detailed analysis including immunophenotypic, clinical and biological parameters. RESULTS: Proportion of T-ALL among ALL Moroccan patients was 31.0%. Median age of patients was 28 years. Twenty-nine patients were females and 11 were males. 45.0% of patients (18/40) had features of immature T-ALL stages (pro-T and pre-T ALL), 30.0% (12/40) of CD1a+ cortical T-ALL stage and 25.0% (10/40) had a characteristic phenotype of medullary T-ALL. The frequencies of progenitor cell markers CD10, CD34 and TdT expression were 14.0; 57.5% and 50.0% respectively. The aberrant expression of B lineage associated antigen CD79a were positive in 20.5% of the cases and the aberrant expression of myeloid antigens CD13 and/or CD33 was found in 22 (55.0%) cases. No significant association was encountered between TdT, CD34 or myeloid antigens positivity and high risk features at presentation as age, sex, and white blood cells. However, myeloid antigens (CD13 and/or CD33) was significantly associated with T-cell maturation stages (p = 0.009). CONCLUSION: To the best of our knowledge, this is the first report from North Africa of immunophenotypic study on adult T-ALL. Our findings indicate that the proportion of T-ALL among ALL in Morocco is similar to that reported in others Mediterranean countries like France and Italy and that myeloid-associated antigens expression is frequently associated with immature immunophenotype.

Effect of interaction of glutathione S-transferases (T1 and M1) on the hematologic and cytogenetic responses in chronic myeloid leukemia patients treated with imatinib.

The glutathione S-transferases (GSTs) are phase II xenobiotic metabolizing enzymes known to be involved in the detoxification of carcinogens and anticancer drugs. Individual genetic variation linked to inherited polymorphisms of GSTT1 and GSTM1 leading to a complete loss of enzyme activity could expose subjects to develop cancer or to induce drug resistance. Indeed, despite the impressive results obtained with the imatinib, some patients with chronic myeloid leukemia (CML) fail to achieve the expected results or develop resistance. The present study aimed to examine the impact of GSTT1 and GSTM1 polymorphisms on the response to imatinib in patients with CML. Multiplex polymerase chain reaction was used to detect the genotypes of GSTT1 and GSTM1 in 60 CML patients. We found that side effects were more frequent in patients carrying GSTT1 null when compared to GSTT1 present carriers (31 vs. 16.6 %; χ (2) = 6.2; p = 0.013). The loss of hematologic response was statistically greater in patients carrying the combined genotype GSTT1 present/GSTM1 present (26.3 %) when compared to GSTT1 null/GSTM1 present (12.8 %), GSTT1 present/GSTM1 null (8.3 %) and GSTT1 null/GSTM1 null (0 %), (χ (2) = 18.85; p < 0.001). The complete cytogenetic response was higher in patients harboring the GSTT1 null/GSTM1 null (75 %) compared with GSTT1 null/GSTM1 present (55.6 %), GSTT1 present/GSTM1 null (50 %) and GSTT1 present/GSTM1 present (47.8). On the other hand, the frequency of none cytogenetic responders was more common in patients carrying GSTT1 present/GSTM1 present (34.8 %) when compared to other genotype combinations (χ (2) = 20.99; p = 0.05). Moreover, the GSTT1 present/GSTM1 present appeared to be associated with a final dose of 600 or 800 mg of imatinib, but not significantly. Based on these findings, we find that the interaction between GSTT1 and GSTM1 seems to influence treatment outcome in patients with CML. Therefore, further investigations are required to confirm these results, for better genotype-phenotype correlation.

Algerian medical teachers' research output and its determinants during the 2000-2009 decade.

BACKGROUND: Publications are the primary output of scientific research. We conducted a national study to quantify Algerian medical teachers' research output and identify its determinants during the 2000-2009 decade. METHODS: The American Medline database and the French Pascal database were used. A publication was eligible only if the lead author was an Algerian medical teacher (in medicine, pharmacy, or dentistry) working in Algeria. The same questionnaire was completed by cases (teachers who were first authors of an original article during the study period) and randomly selected controls. Logistic regression analysis was used to identify factors related to research output. RESULTS: A total of 79 original articles (42.2% of publications) were retrieved, a quarter of which were listed in Pascal alone. The publication rate was 2.6 original articles per 1000 teachers per year. The journals that published these original articles had a median impact factor of 0.83. The ability to publish an original article was 4.3 times higher if the teacher had undergone training in biostatistics and/or epidemiology (adjusted odds ratio [aOR]=4.31, 95% confidence interval [CI]: 1.79-10.38). A promotion evaluation grid that did not encourage writing (aOR=3.44, 95% CI: 1.42-8.33), a doctoral thesis, seniority, foreign collaboration, and English language proficiency were found to be associated with publication output. CONCLUSIONS: Algerian medical teachers' research output was particularly low. Replacing the current promotion grid with a grid that promotes writing, developing abilities to read and write articles and developing English language proficiency are likely to improve this situation.

[Pregnancy in Gaucher disease]. / Grossesse et maladie de Gaucher.

Gaucher disease is a lysosomal storage disorder due to deficiency of glucocerebrosidase. The association with pregnancy exposes the worsening of the disease and complications of pregnancy and puerperium. We report a case of pregnancy in a woman of 35 years, suffering from Gaucher disease type 1. Pregnancy had a favorable outcome. Complications occurred. They were kept under control. The outcome was favorable. The authors discuss the evolution of the disease during pregnancy and management of complications. They can occur during pregnancy, post-partum and breastfeeding. Support begins with preconception consultation. It involves finding and correcting the biological problems and deficiencies, and management of complications. Genetic counseling is important, it helps prevent inbreeding.

[Disseminated fusariosis during autologous stem cells transplant]. / Fusariose disséminée au cours d'une autogreffe de moelle osseuse.

Fusarium is a filamentous brown fungus found in soil, on plants and outdoors responsible for localized or disseminated infections. Diagnosis is based on blood cultures and skin biopsy. Disseminated fusariosis is a rare and serious fungal infection, that occurs especially in neutropenic immunosuppressed patients. Treatment is difficult and mortality is estimated between 50 and 70% in adult patients. This infection is rare in Morocco. We report a case of systemic fusariosis in patient with multiple myeloma during a second autologous stem cell transplant. At day 4 of the autologous stem cells transplant the patient had febrile neutropenia and diarrhea; he received ceftazidime, metronidazole and amikacin for 2 days. The patient still febrile was treated by imipenem and vancomycin without bacteriological proof. At day 10 the patient presented difficulty of breathing and wheezing on auscultation of the lungs, and received nebulization with salbutamol every 6 hours. The CT scan shows interstitial infiltrate of the right lung with micronodules. At day 11 he was treated by voriconazole with clinical improvement. At day 19, Fusarium sp. was identified on the Sabouraud blood culture. The patient left the transplant unit at day 25, he received 6 weeks of voriconazole with clinical and radiological improvement.

[Successive cutaneous adverse reactions to nilotinib and imatinib in a single patient]. / Toxidermie à l'imatinib suivie d'une toxidermie au nilotinib.

BACKGROUND: Since the advent of targeted molecules, the treatment and prognosis of many cancers, especially chronic myeloid leukemia (CML), have been substantially modified through the introduction of first- and second-generation tyrosine kinase inhibitors. Skin effects constitute the most common adverse effects of these new substances. Although such skin changes are not life-threatening, they can have extensive clinical impact, in some cases leading to discontinuation of treatment. PATIENTS AND METHODS: A 47-year-old woman with no past medical history was followed for chronic phase CML since 26/11/2010 with the presence of the t(9; 22) karyotype. Imatinib (IM) was started at a dose of 400mg/day and haematological response was good. After 4 months of treatment with IM the patient presented with erythematous plaques on both upper limbs and on the oral and vaginal mucosa. These lesions disappeared after discontinuation of IM. The patient was then put on nilotinib 400mg/d and skin lesions reappeared after 3 weeks in the more serious form of erythema multiform with acral distribution, but with no involvement of the mucosa, resulting in immediate cessation of nilotinib. Skin biopsy was consistent with a drug-induced eruption. The lesions disappeared after discontinuation of nilotinib. DISCUSSION: In case of intolerance to IM, a second-generation ITK (dasatinib or nilotinib) may be substituted, and while cross-sensitivities seem infrequent, therapy is problematic in these patients presenting potentially curable blood dyscrasias.

A rare association of Castleman's disease and nephrotic syndrome.

Castleman's Disease (CD) is an uncommon and poorly understood disorder of lymph node hyperplasia of unknown etiology. This entity belongs to the atypical lymphoproliferative disorders, a heterogeneous group of diseases characterized by a hyperplastic reactive process involving the immune system. The association of the nephrotic syndrome and CD is extremely rare and their interrelation remains enigmatic. We report a case of CD of the hyaline-vascular type with unicentric localization complicated by nephrotic syndrome.

JAK2-V617F mutation in Moroccan patients with myeloproliferative disorders: contribution, diagnosis and therapeutic prospects.

AIMS: The JAK2 V617F is a recent discovery. The implication of this mutation in the pathogenesis of the myeloproliferative disorders (MPDs) is currently confirmed. Our study is the first to be interested in the status of the JAK2 V617F mutation among myeloproliferative disorders patients in Morocco. PATIENTS AND METHODS: Our study focused on 70 non-CML MPD patients, attending several departments of hematology and internal medicine across Morocco. The mutation was detected by allele-specific PCR (AS-PCR). RESULTS: The V617F JAK2 mutation incidence in polycythemia vera, essential thrombocythemia and idiopathic myelofibrosis are respectively 89.47%, 62.5% and 33.33%. The V617F JAK2 mutation was absent within the patients with secondary erythrocytosis or thrombocytosis. We also found that the patients carrying the mutation displayed a leucocytosis and higher levels of haemoglobin and hematocrit than mutation-negative patients. CONCLUSION: Our study is the first to assess the status of the JAK2 V617F mutation in patients with MPDs in Morocco. However, our data seem to confirm that the JAK2 V617F mutation is rather uncommon in myeloid malignancies other than the classical BCR/ABL MPD negative.

[Cerebral venous thrombosis and acute polyradiculoneuritis revealing systemic lupus erythematosus]. / Thrombose veineuse cérébrale et polyradiculonévrite aiguë révélant un lupus érythémateux disséminé

INTRODUCTION: Neurological manifestations of systemic lupus erythematosus are frequent and polymorphic. In 40% of cases, lupus can be revealed by neurological symptoms. Cerebral nervous system complications predominate and can be a negative factor for prognosis. Peripheral features are rare and various and can compromise functional prognosis, sometimes with fatal outcome. CASE REPORT: We report the case of a 30-year-old woman who presented a cerebral venous thrombosis of the superior longitudinal sinus. Outcome was favorable with antibiotics and anticoagulants. Four months later, she developed an acute polyradiculoneuritis associated with an inflammatory syndrome and positive tests for antinuclear antibody and antinuclear anti-DNA. The diagnosis of neurolupus was retained on the basis of four criteria of the American college of Rheumatology. The patient was given steroid therapy associated with a course of intravenous immunoglobulin. She has fully recovered her deficit. CONCLUSION: Cerebral venous thrombosis and acute polyradiculonévrites are rare events in systemic lupus erythematosus. Early diagnosis and management are crucial.

[Askin tumor: a case report with literature review]. / Tumeur d'Askin: à propos d'un cas avec revue de la littérature.

Askin tumor is a rare malignant tumor arising from soft tissues of the chest wall, rarely in the lung. It occurs predominantly in young adults. It still raises many questions about its individualisation and its links with Ewing's sarcoma. We report a case of Askin tumor in a 5-year-old child with reviewing the different data from the literature.