1.Astroblastoma in a Young Female Patient: A Case Report and Literature Review of Clinicopathological, Radiological and Prognostic Characteristics and Current Treatment Strategies.
Muhammad SADIQ ; Iftikhar AHMAD ; Jamila SHUJA ; Zubair AHMAD ; Riyasat AHMED ; Khushnaseeb AHMAD
Brain Tumor Research and Treatment 2017;5(2):120-126
Astroblastoma is an uncommon glial tumor with predominant manifestation in the young age. Herein, we report a case of 18-year-old astroblastoma female patient who presented with history of two months headache. Magnetic resonance imaging (MRI) of the brain demonstrated well circumscribed, intra-axial abnormal signal intensity lesion (size=5×4 cm²) in the right parieto-occipital region of the brain. The patient underwent complete surgical resection of the gross tumor, as confirmed by an early post-surgical MRI (i.e., within 24 hours of surgery). Histopathological examination revealed neoplastic lesion exhibiting perivascular pseudo-rosettes with centrally hyalinized blood vessel and focal nuclear pleomorphism. Immunohistochemistry staining illustrated reactivity for glial fibrillary acidic protein and integrase interactor 1 (INI-1). These features rendered the diagnosis of astroblastoma. A comprehensive review of the current literature to summarize the clinicopathological and radiological characteristics, prognostic factors and current treatment strategies of astroblastomas is also presented. Our study would expand the pool of this uncommon tumor towards its better understanding and optimal treatment.
Adolescent
;
Blood Vessels
;
Brain
;
Brain Neoplasms
;
Craniotomy
;
Diagnosis
;
Female*
;
Glial Fibrillary Acidic Protein
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Headache
;
Humans
;
Hyalin
;
Immunohistochemistry
;
Integrases
;
Magnetic Resonance Imaging
;
Neoplasms, Neuroepithelial*
2.Allelic variance among ABO blood group genotypes in a population from the western region of Saudi Arabia.
Abdularahman B O MOHAMED ; Salwa Ibrahim HINDAWI ; Sameer AL-HARTHI ; Qamre ALAM ; Mohammad Zubair ALAM ; Absarul HAQUE ; Waseem AHMAD ; Ghazi A DAMANHOURI
Blood Research 2016;51(4):274-278
BACKGROUND: Characterization of the ABO blood group at the phenotype and genotype levels is clinically essential for transfusion, forensics, and population studies. This study elucidated ABO phenotypes and genotypes, and performed an evaluation of their distribution in individuals from the western region of Saudi Arabia. METHODS: One-hundred and seven samples underwent standard serological techniques for ABO blood group phenotype analysis. ABO alleles and genotypes were identified using multiplex polymerase chain reaction, and electrophoretic analysis was performed to evaluate the highly polymorphic ABO locus. RESULTS: A phenotype distribution of 37.4%, 30.8%, 24.3%, and 7.5% was found for blood groups O, A, B, and AB respectively in our study cohort. Genotype analysis identified 10 genotype combinations with the O01/O02 and A102/O02 genotypes being the most frequent with frequencies of 33.6% and 14.95%, respectively. Common genotypes such as A101/A101, A101/A102, A101/B101, B101/B101, and O01/O01 were not detected. Similarly, the rare genotypes, cis-AB01/O02, cis-AB01/O01, and cis-AB01/A102 were not found in our cohort. The most frequently observed allele was O02 (35.98%) followed by the A102 allele (17.76%). Furthermore, our findings are discussed in reference to ABO allele and genotype frequencies found in other ethnic groups. CONCLUSION: The study has a significant implication on the management of blood bank and transfusion services in Saudi Arabian patients.
ABO Blood-Group System
;
Alleles
;
Blood Banks
;
Blood Group Antigens
;
Cohort Studies
;
Ethnic Groups
;
Genotype*
;
Humans
;
Multiplex Polymerase Chain Reaction
;
Phenotype
;
Saudi Arabia*
3.Organogenesis: need of the current world.
Arsalan AHMAD ; Hafiz Muhammad Umer ASLAM ; Muhammad Sohail AFZAL ; Zubair BHUTTA
Chinese Medical Journal 2019;132(7):849-852
Animals
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Brain
;
embryology
;
Ear
;
embryology
;
Esophagus
;
embryology
;
Fallopian Tubes
;
embryology
;
Female
;
Heart
;
embryology
;
Humans
;
Kidney
;
embryology
;
Liver
;
embryology
;
Lung
;
embryology
;
Male
;
Organogenesis
;
physiology
;
Penis
;
embryology
;
Rabbits
;
Stomach
;
embryology
;
Vagina
;
embryology
4.A recurrent homozygous missense mutation in CCDC103 causes asthenoteratozoospermia due to disorganized dynein arms.
Muhammad ZUBAIR ; Ranjha KHAN ; Ao MA ; Uzma HAMEED ; Mazhar KHAN ; Tanveer ABBAS ; Riaz AHMAD ; Jian-Teng ZHOU ; Wasim SHAH ; Ansar HUSSAIN ; Nisar AHMED ; Ihsan KHAN ; Khalid KHAN ; Yuan-Wei ZHANG ; Huan ZHANG ; Li-Min WU ; Qing-Hua SHI
Asian Journal of Andrology 2022;24(3):255-259
Asthenoteratozoospermia is one of the most severe types of qualitative sperm defects. Most cases are due to mutations in genes encoding the components of sperm flagella, which have an ultrastructure similar to that of motile cilia. Coiled-coil domain containing 103 (CCDC103) is an outer dynein arm assembly factor, and pathogenic variants of CCDC103 cause primary ciliary dyskinesia (PCD). However, whether CCDC103 pathogenic variants cause severe asthenoteratozoospermia has yet to be determined. Whole-exome sequencing (WES) was performed for two individuals with nonsyndromic asthenoteratozoospermia in a consanguineous family. A homozygous CCDC103 variant segregating recessively with an infertility phenotype was identified (ENST00000035776.2, c.461A>C, p.His154Pro). CCDC103 p.His154Pro was previously reported as a high prevalence mutation causing PCD, though the reproductive phenotype of these PCD individuals is unknown. Transmission electron microscopy (TEM) of affected individuals' spermatozoa showed that the mid-piece was severely damaged with disorganized dynein arms, similar to the abnormal ultrastructure of respiratory ciliary of PCD individuals with the same mutation. Thus, our findings expand the phenotype spectrum of CCDC103 p.His154Pro as a novel pathogenic gene for nonsyndromic asthenospermia.
Asthenozoospermia/pathology*
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Dyneins/genetics*
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Homozygote
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Humans
;
Male
;
Microtubule-Associated Proteins
;
Mutation
;
Mutation, Missense
;
Sperm Tail/metabolism*