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1.
Dermatol Res Pract ; 2023: 1360740, 2023.
Article in English | MEDLINE | ID: mdl-36762366

ABSTRACT

The treatment options for mycosis fungoides (MF) have been expanding but unfortunately many of the currently used treatment modalities are unavailable in Egypt and other African/Arab countries. In addition, there is a lack of consensus on the treatment of hypopigmented MF (HMF), which is a frequently encountered variant in our population. We aimed to develop regional treatment guidelines based on the international guidelines but modified to encompass the restricted treatment availability and our institutional experience. Special attention was also given to studies conducted on patients with skin phototype (III-IV). Treatment algorithm was formulated at Ain-Shams cutaneous lymphoma clinic through the collaboration of dermatologists, haematologists, and oncologists. Level of evidence is specified for each treatment option. For HMF, phototherapy is recommended as a first line treatment, while low-dose methotrexate is considered a second line. For early classical MF, we recommend Psoralen-ultraviolet A (PUVA), which is a well-tolerated treatment option in dark phenotype. Addition of either retinoic acid receptor (RAR) agonist and/or methotrexate is recommended as a second line. Total skin electron beam (TSEB) is considered a third-line option. For advanced stage, PUVA plus RAR agonist and/or methotrexate is recommended as first line, TSEB or monochemotherapy is considered a second line option. Polychemotherapy is regarded as a final option. All patients with complete response (CR) enter a maintenance and follow-up schedule. We suggest a practical algorithm for the treatment of MF for patients with dark phenotype living in countries with limited resources.

2.
Transfus Med Hemother ; 50(1): 66-70, 2023 Feb.
Article in English | MEDLINE | ID: mdl-36818772

ABSTRACT

Introduction: This is the fourth case reporting the administration of tocilizumab to control hyperhaemolysis. It was administered with rituximab to stop hyperhaemolysis refractory to frontline therapy. Hyperhaemolysis is a rare life-threatening subtype of delayed haemolytic transfusion reaction. Refractory cases pose a clinical challenge with no standard of care to date. Case Presentation: A 29-year-old lady with non-transfusion-dependent thalassaemia presented with refractory hyperhaemolysis necessitating the administration of rituximab. This was complicated with anaemic heart failure and altered sensorium exacerbated with further transfusions. A nadir haemoglobin of 2.1 g/dL was reached after the initiation of rituximab, and her condition was too critical to wait for the slow expected improvement. Hence, tocilizumab was given as a bridging therapy to block haemolysis till the delayed onset of radical treatment. Conclusion: Tocilizumab can be effectively combined with rituximab to stop hyperhaemolytic episode refractory to first-line treatment when a prompt response is needed.

3.
Int J Immunopathol Pharmacol ; 34: 2058738420961202, 2020.
Article in English | MEDLINE | ID: mdl-33045856

ABSTRACT

Despite the link between HCV and malignant lymphoproliferative disorders has been established, the association between occult hepatitis C virus infection and malignant lymphoproliferative disorders remains obscure. The present study intended to identify the possible association between occult HCV infection and malignant lymphoproliferative disorders. Newly diagnosed patients with LPDs were screened for the presence of HCV-RNA in both plasma and PBMCs. PBMCs of the subjects were also, examined by transmission and immuno-electron microscopy. LPD patients showed a high percentage of HCV infection (71.9%): OCI-HCV (37.5%) and HCV (34.38%). Meanwhile, 28.13% of LPD patients did not show any evidence of HCV infection. Ultrastructural examination of PBMCs revealed the presence of intracytoplasmic vacuoles enclosing viral like particles, which were less prominent in occult HCV patients. The possibility of occult HCV should be considered in patients with LPDs which can be helpful in the management of the treatment protocol in order to set up a balance between the control of the tumor progression and minimizing post chemotherapy complications related to HCV infection.


Subject(s)
Hematologic Neoplasms/complications , Hepacivirus/genetics , Hepatitis C/virology , Leukocytes, Mononuclear/virology , Lymphoproliferative Disorders/complications , RNA, Viral/genetics , Adult , Aged , Aged, 80 and over , Case-Control Studies , Female , Hematologic Neoplasms/diagnosis , Hepatitis C/complications , Hepatitis C/diagnosis , Humans , Leukocytes, Mononuclear/ultrastructure , Lymphoproliferative Disorders/diagnosis , Male , Microscopy, Electron, Transmission , Microscopy, Immunoelectron , Middle Aged , RNA, Viral/blood , Real-Time Polymerase Chain Reaction , Viral Load
4.
Fam Cancer ; 17(2): 261-268, 2018 04.
Article in English | MEDLINE | ID: mdl-28803391

ABSTRACT

Retinoblastoma (RB) is a childhood cancer developing in the retina due to RB1 pathologic variant. Herein we are evaluating the oncogenic mutations in the RB1 gene and the inheritance patterns of RB in the Jordanian patients. In this prospective study, the peripheral blood of 50 retinoblastoma patients was collected, genomic DNA was extracted, mutations were identified using Quantitative multiplex PCR (QM-PCR), Allele-specific PCR, Next Generation Sequencing analysis, and Sanger sequencing. In this cohort of 50 patients, 20(40%) patients had unilateral RB and 30(60%) were males. Overall, 36(72%) patients had germline disease, 17(47%) of whom had the same RB1 pathologic variant detected in one of the parents (inherited disease). In the bilateral group, all (100%) patients had germline disease; 13(43%) of them had inherited mutation. In the unilateral group, 6(30%) had germline disease, 4(20%) of them had inherited mutation. Nonsense mutation generating a stop codon and producing a truncated non-functional protein was the most frequent detected type of mutations (n = 15/36, 42%). Only one (2%) of the patients had mosaic mutation, and of the 17 inherited cases, 16(94%) had an unaffected carrier parent. In conclusion, in addition to all bilateral RB patients in our cohort, 30% of unilateral cases showed germline mutation. Almost half (47%) of germline cases had inherited disease from affected (6%) parent or unaffected carrier (94%). Therefore molecular screening is critical for the genetic counseling regarding the risk for inherited RB in both unilateral and bilateral cases including those with no family history.


Subject(s)
Germ-Line Mutation , Inheritance Patterns , Neoplastic Syndromes, Hereditary/genetics , Retinoblastoma Binding Proteins/genetics , Retinoblastoma/genetics , Ubiquitin-Protein Ligases/genetics , Child, Preschool , DNA Mutational Analysis , Exons , Female , Genetic Counseling , High-Throughput Nucleotide Sequencing , Humans , Infant , Infant, Newborn , Jordan , Male , Neoplastic Syndromes, Hereditary/blood , Prospective Studies , Retinoblastoma/blood
5.
Pak J Biol Sci ; 13(5): 216-22, 2010 Mar 01.
Article in English | MEDLINE | ID: mdl-20464943

ABSTRACT

The coccinellid predator, Cryptolaemus montrouzieri Mulsant (Coleoptera: Coccinellidae) was used to control the citrus mealybug, Planococcus citri (Risso) (Homoptera: Pseudococcidae) on the croton ornamental shrubs, Codiaeum variegatum L. at Giza governorate, Egypt. Cryptolaemus montrouzieri Mulsant, 50 adults/Croton shrub, were released once on October 27, 2008 in the open field. Obtained results indicated that percentages of reduction among the egg masses, nymphs and adults of P. citri, one month after releasing the predator reached to 41.5, 42.3 and 57.5%, respectively. Two months later, the corresponding rates were 80.6, 86.5 and 91.5%. Finally, after three months of releasing the predator, reduction rates reached to 100% for all stages of the pest. The associated natural enemies in the field were consisted of three predaceous insects and one parasitic species. The insect predators secured were the hemerobiid predator, Sympherobius amicus Navas; the coccinellid predator, Scymnus syriacus (Mars.) and the chrysopid predator, Chrysoperla carnea (Stephens). The parasitic species was the encyrtid, Coccidoxenoides peregrinus (Timberlake). The aforementioned natural enemies were found feeding on the citrus mealybug, Planococcus citri infesting croton shrubs. In the second season, 2009 there is no mealybug, P. citri individuals were found on the croton shrubs.


Subject(s)
Coleoptera/physiology , Hemiptera/physiology , Pest Control, Biological/methods , Predatory Behavior/physiology , Animals , Egypt , Host-Parasite Interactions , Plant Diseases/parasitology
6.
Mol Genet Metab ; 93(3): 347-9, 2008 Mar.
Article in English | MEDLINE | ID: mdl-18024217

ABSTRACT

Chimeraplasty, using oligonucleotides to target gene repair, was heralded as an efficient alternative approach to conventional gene therapy. We designed oligonucleotides to target a common mutation in the carnitine palmitoyl transferase 2 gene and developed a specific and sensitive assay to detect gene repair in human skin fibroblasts homozygous for the mutation. We failed to repair the gene under a variety of conditions and believe this approach is of little value until cellular DNA repair mechanisms are much better understood.


Subject(s)
Carnitine O-Palmitoyltransferase/genetics , DNA Repair , Fibroblasts/drug effects , Carnitine O-Palmitoyltransferase/deficiency , Cells, Cultured , Fibroblasts/enzymology , Humans , Oligonucleotides/pharmacology , Point Mutation , Skin/cytology
7.
Hum Mutat ; 27(7): 716, 2006 Jul.
Article in English | MEDLINE | ID: mdl-16786509

ABSTRACT

Osteogenesis Imperfecta (OI) is a heterogeneous group of inherited disorders characterized by increased bone fragility, with clinical severity ranging from mild to lethal. To date, seven types of OI have been described, based on clinical phenotype and histological findings. Most patients with a clinical diagnosis of OI type I-IV have a mutation in the COL1A1 or COL1A2 genes which encode the two alpha chains of type I collagen, the major component of the bone matrix. Analysis of COL1A1 and COL1A2 in a cohort of 83 unrelated patients with OI type I-IV identified a total of 62 mutations. Thirty-eight appear novel, 26 in COL1A1, and 12 in COL1A2, and these are described here. The largest group consists of point mutations affecting glycine residues in the triple helical domain of the two alpha chains, predicted to disrupt protein folding and structure. This is in accordance with previously published data. A doublet GC deletion, an unusual 398 base deletion predicted to completely remove exon 20 of COL1A2, and a point mutation resulting in substitution of a conserved cysteine in the C-terminal propeptide are described. In addition rare mutations at the cleavage sites of the C-propeptide and the N-terminal signal peptide are described.


Subject(s)
Collagen Type I/genetics , Collagen/genetics , Mutation , Osteogenesis Imperfecta/genetics , Base Sequence , Cohort Studies , Collagen/chemistry , Collagen Type I/chemistry , Collagen Type I, alpha 1 Chain , DNA Mutational Analysis , Exons , Female , Humans , Male , Osteogenesis Imperfecta/diagnosis , Osteogenesis Imperfecta/epidemiology , Point Mutation , Protein Structure, Tertiary , Sequence Deletion
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