Background: The Philadelphia (Ph) chromosome, or derivative chromosome 22 [der(22)], is a product of the reciprocal translocation t(9;22). It is the hallmark of chronic myelogenous leukemia (CML). It results in juxtaposition of the 5' part of the BCR gene on chromosome 22 to the 3' part of the ABL1 gene on chromosome 9. During CML progression 60-80 % of the cases acquire additional genetic changes. Blast crisis (BC) is characterized by the rapid expansion of a population of differentiation arrested blast cells (myeloid or lymphoid cells population), often presenting with secondary chromosomal abnormalities. Here we report an unusual CML-BC case with acquired secondary chromosomal aberrations observed after the patient had to interrupt a successful Imatinib treatment for overall 16 months.
Case Presentation: A complete cytogenetic and molecular cytogenetic analysis were performed and application of molecular genetic methods such as reverse transcription polymerase chain reaction (RT-PCR) finally characterized a complex karyotype including an inv dup(22)(q11.23), tetrasomy 8 and trisomy 19.
Conclusions: Here we report the first case of a BC after successfully initiated and suddenly interrupted Imatinib treatment. Changes present after such an instant indicate for a rapid progression after Imatinib is no longer suppressing the disease.
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http://dx.doi.org/10.1186/s13039-015-0204-x | DOI Listing |
Malar J
January 2025
Department of Health Informatics and Data Science, Loyola University Chicago, Chicago, IL, USA.
Background: Informal Healthcare Providers (IHCPs), including Proprietary Patent Medicine Vendors (PPMVs), drug peddlers, traditional healers, and herbal drug sellers are often the first choice for malaria treatment, especially in urban slums. Unplanned urbanization significantly impacts malaria transmission by creating cities with inadequate safety nets and healthcare access, increasing reliance on IHCPs. While the World Health Organization recognizes IHCP's crucial role and emphasizes integrating them into formal healthcare for improved malaria care, they lack requisite training in malaria management and operate outside official regulations, raising concerns about the quality of care they provide.
View Article and Find Full Text PDFArch Plast Surg
January 2025
Department of Experimental and Clinical Medicine, Clinic of Plastic and Reconstructive Surgery, Marche Polytechnic University Medical School, Ancona, Italy.
Upper lateral cartilage and alar cartilage nose reconstruction secondary to failed aesthetic procedure or tumor excision, surely represents a reconstructive challenge for plastic surgeons, because of the support needed and for the function of the internal nasal valve (INV). Several scientific publications deal with internal nasal reconstructive techniques, including simple homologous or heterologous tissue grafts. We describe a new hybrid chondrocutaneous graft used for reconstruction of the upper lateral cartilage and a portion of the alar cartilage (cephalic part), excised with the adherent nasal mucosa (in correspondence with INV), included in the tumor mass.
View Article and Find Full Text PDFFront Genet
January 2025
Genetics and Precision Medical Center, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Introduction: Mucopolysaccharidosis type VI (MPSVI), an autosomal recessive lysosomal storage disorder caused by pathogenic variants in gene. Usually, whole exome sequencing (WES) can identify these variants, and if WES failed to detect causative variants, whole-genome sequencing (WGS) may be considered to investigate deep intronic variations and structural alterations in patients.
Methods: Whole-exome sequencing (WES) and whole genome sequencing (WGS) were performed in a Chinese family having a boy with suspected diagnosis of MPS with macrocephaly, coarse facial features, broad forehead, thick lips, frontal bossing, craniosynostosis, blue spots, frequent upper respiratory infections, inguinal hernia, and dysostosis multiplex.
Malar J
January 2025
West African Centre for Cell Biology of Infectious Pathogens, Accra University of Ghana, Volta Rd, Accra, Ghana.
Background: Malaria remains a leading cause of death worldwide, claiming over 600,000 lives each year. Over 90% of these deaths, mostly among children under 5 years, occur in sub-Saharan Africa and are caused by Plasmodium falciparum. The merozoites stage of the parasite, crucial for asexual development invade erythrocytes through ligand-receptor interactions.
View Article and Find Full Text PDFDrug Saf
January 2025
Department of Public Health Pharmacy and Management, Sefako Makgatho Health Sciences University, Pretoria, South Africa.
Introduction: The COVID-19 pandemic accelerated new vaccine development. Limited safety data necessitated robust global safety surveillance to accurately identify and promptly communicate potential safety issues. The African Union Smart Safety Surveillance (AU-3S) program established the Joint Signal Management (JSM) group to support identification of potential vaccine safety concerns in five pilot countries (Ethiopia, Ghana, Kenya, Nigeria, South Africa), accounting for approximately 35% of the African population.
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