1.Multiple volar dislocations of the carpometacarpal joints with an associated fracture of the first metacarpal base.
Latif Zafar JILANI ; Mazhar ABBAS ; Siddharth GOEL ; Mohammad Nasim AKHTAR
Chinese Journal of Traumatology 2014;17(1):38-40
Multiple volar dislocations of carpometacarpal (CMC) joints are uncommon and have been reported rarely. A 25 years old male presented with injury to his left hand 6 days following a road traffic accident. Clinical examination revealed gross swelling of the hand and diffuse tenderness over the carpometacarpal area. His radiographs of the hand showed volar dislocation of the second, third and fourth CMC joints in association with an extra-articular fracture of the base of thumb metacarpal. He was treated by open reduction and percutaneous fixation using Kirschner wires. The functional results were excellent at one year follow-up.
Adult
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Carpometacarpal Joints
;
injuries
;
Fractures, Bone
;
complications
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Humans
;
Joint Dislocations
;
complications
;
Male
;
Metacarpal Bones
;
injuries
2.Inferior glenohumeral joint dislocation with greater tuberosity avulsion.
Mohd FAIZAN ; Latif Zafar JILANI ; Mazhar ABBAS ; Yasir Salam SIDDIQUI ; Aamir Bin SABIR ; M K A SHERWANI ; Saifullah KHALID
Chinese Journal of Traumatology 2015;18(3):181-183
Inferior glenohumeral dislocation is the least common type of glenohumeral dislocations. It may be associated with fractures of the adjacent bones and neurovascular compromise. It should be treated immediately by close reduction. The associated neuropraxia usually recovers with time. Traction-counter traction method is commonly used for reduction followed by immobilization of the shoulder for three weeks. Here, we report a case of inferior glenohumeral joint dislocation with greater tuberosity fracture with transient neurovascular compromise and present a brief review of the literature.
Adult
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Fractures, Bone
;
physiopathology
;
therapy
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Humans
;
Male
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Shoulder Dislocation
;
complications
;
physiopathology
;
therapy
3.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
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Male
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Microtubule-Associated Proteins
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Mutation
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Mutation, Missense
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Sperm Tail/metabolism*