Publications by authors named "Manal Elidrissi Errahhali"

Introduction: Triple-A syndrome (Triple-A) is an autosomal recessive disorder characterized by alacrimia, achalasia, and adrenal insufficiency. Several variants on the gene have been described, and some variants are clustered in particular geographical areas, such as the c.1331+1G>A variant which is very frequent in North Africa.

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Article Synopsis
  • The research focuses on chromosomal abnormalities as key contributors to birth defects and miscarriages, specifically examining cases in Eastern Morocco for the first time.
  • Out of 195 patients studied, 16.4% were found to have chromosomal abnormalities, with common issues being Turner syndrome and Down syndrome, along with structural changes like translocations.
  • A unique case of a de novo partial trisomy 13q with a 1-Mb deletion was identified in an 11-day-old girl, highlighting the variability in phenotypes associated with such chromosomal changes.
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Acromesomelic dysplasia Grebe type (AMD Grebe type) is an autosomal recessive trait characterized by short stature, shortened limbs and malformations of the hands and feet. It is caused by variants in the growth differentiation factor 5 (GDF5) or, in rare cases, its receptor, the bone morphogenetic protein receptor-1B (BMPR1B). Here, we report a novel homozygous BMPR1B variant causing AMD Grebe type in a consanguineous Moroccan family with two affected sibs from BRO Biobank.

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Background: β-thalassemia syndromes are the most common hereditary blood disorders in the world and are recognized as a major health problem in Morocco. They are characterized by the reduction or the absence of β-globin chain synthesis. The severity of the disease depends on the nature of the variants affecting the β-globin gene (HBB), and each ethnic group has its own mutation spectrum.

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Article Synopsis
  • Biobanks, like the BRO Biobank established in Morocco in 2015, are essential for storing human biological specimens along with personal and clinical data to aid medical research, particularly involving underrepresented ethnic groups.
  • The BRO Biobank has recruited 2,446 participants over 5 years, with a significant number being healthy donors and patients, including many with rare diseases and other serious conditions.
  • High-quality biospecimens (5,092 collected) have been gathered, ensuring they can be used effectively for various biomedical studies due to rigorous standard operating procedures.
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Thirty-four imidazole-based compounds synthesized by one-pot catalytic method were evaluated for their antifungal and antibacterial activities against several fungal and bacterial strains. None of the compounds had antibacterial activity. Interestingly, compounds , , , and displayed a strong antifungal activity against all the tested fungal species, while compounds , , , , and showed a moderate antifungal activity.

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Background: Cancer is one of the major health problems worldwide. In this article, we present for the first time the cancer incidence trends, the distribution and the socioeconomic profile of incident cancer cases in Eastern Morocco over a period of eight years.

Methods: Retrospective descriptive study of patients diagnosed with cancer at the Hassan II Regional Oncology Center (ROC) since it was created in October 2005 until December 2012.

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Background: Breast cancer is the most frequent malignancy among women in Eastern Morocco. In this paper, we provide the first report on molecular breast cancer subtypes in this region. This is the largest population-based study on breast cancer among Moroccan women.

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Background: Malignant diseases have been believed to be more common in some areas of Eastern Morocco, but until now, cancer patterns have not been reported for this region. In this paper we present for the first time the cancer prevalence analysis in Eastern Morocco.

Methods: Cross-sectional study carried out among all patients diagnosed and/or treated with cancer at the Hassan II Regional Oncology Center (ROC) since it was established in October 2005 until December 2012.

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Background: Hematological malignancies (HM) are a public health problem. The pattern and distribution of diagnosed hematological cancers vary depending on age, sex, geography, and ethnicity suggesting the involvement of genetic and environmental factors for the development of these diseases. To our knowledge, there is no published report on HM in the case of Eastern Morocco.

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