1.Novel homozygous SPAG17 variants cause human male infertility through multiple morphological abnormalities of spermatozoal flagella related to axonemal microtubule doublets.
Tao LIU ; Fazal RAHIM ; Meng-Lei YANG ; Meftah UDDIN ; Jing-Wei YE ; Imtiaz ALI ; Yousaf RAZA ; Abu MANSOOR ; Muhammad SHOAIB ; Mujahid HUSSAIN ; Ihsan KHAN ; Basit SHAH ; Asad KHAN ; Ahmad NISAR ; Hui MA ; Bo XU ; Wasim SHAH ; Qing-Hua SHI
Asian Journal of Andrology 2025;27(2):245-253
Male infertility can result from impaired sperm motility caused by multiple morphological abnormalities of the flagella (MMAF). Distinct projections encircling the central microtubules of the spermatozoal axoneme play pivotal roles in flagellar bending and spermatozoal movement. Mammalian sperm-associated antigen 17 ( SPAG17 ) encodes a conserved axonemal protein of cilia and flagella, forming part of the C1a projection of the central apparatus, with functions related to ciliary/flagellar motility, skeletal growth, and male fertility. This study investigated two novel homozygous SPAG17 mutations (M1: NM_206996.2, c.829+1G>T, p.Asp212_Glu276del; and M2: c.2120del, p.Leu707*) identified in four infertile patients from two consanguineous Pakistani families. These patients displayed the MMAF phenotype confirmed by Papanicolaou staining and scanning electron microscopy assays of spermatozoa. Quantitative real-time polymerase chain reaction (PCR) of patients' spermatozoa also revealed a significant decrease in SPAG17 mRNA expression, and immunofluorescence staining showed the absence of SPAG17 protein signals along the flagella. However, no apparent ciliary-related symptoms or skeletal malformations were observed in the chest X-rays of any of the patients. Transmission electron microscopy of axoneme cross-sections from the patients showed incomplete C1a projection and a higher frequency of missing microtubule doublets 1 and 9 compared with those from fertile controls. Immunofluorescence staining and Western blot analyses of spermatogenesis-associated protein 17 (SPATA17), a component of the C1a projection, and sperm-associated antigen 6 (SPAG6), a marker of the spring layer, revealed disrupted expression of both proteins in the patients' spermatozoa. Altogether, these findings demonstrated that SPAG17 maintains the integrity of spermatozoal flagellar axoneme, expanding the phenotypic spectrum of SPAG17 mutations in humans.
Humans
;
Male
;
Infertility, Male/pathology*
;
Sperm Tail/ultrastructure*
;
Homozygote
;
Microtubule-Associated Proteins/genetics*
;
Axoneme/genetics*
;
Spermatozoa/ultrastructure*
;
Adult
;
Mutation
;
Sperm Motility/genetics*
;
Pedigree
;
Microtubules
;
Microtubule Proteins/genetics*
2.New insights on the utilization of ultrasonicated mustard seed cake: chemical composition and antagonistic potential for root-knot nematode,
Hera NADEEM ; Pieter MALAN ; Amir KHAN ; Mohd ASIF ; Mansoor AHMAD SIDDIQUI ; Simon TUHAFENI ANGOMBE ; Faheem AHMAD
Journal of Zhejiang University. Science. B 2021;22(7):563-574
This study focused, for the first time, on the effect of ultrasonic features on the extraction efficiency of secondary metabolites in mustard seed cake (MSC). The nematostatic potential of sonicated seed cake was examined against the second-stage juveniles (J2s) of root-knot nematode,
3. Antihyperglycemic effect of methanol extract of Tamarix aphylla L. Karst (Saltcedar) in streptozocin–nicotinamide induced diabetic rats
Rooh ULLAH ; Shafiq Ahmed TARIQ ; Naeem KHAN ; Nawaz SHARIF ; Zia UD DIN ; Khalid MANSOOR
Asian Pacific Journal of Tropical Biomedicine 2017;7(7):619-623
Objective To evaluate the antihyperglycemic potential of Tamarix aphylla (T. aphylla) leaves in STZ–NIC induced diabetes in Wister Albino rats. Methods Acute toxicity study was done to check the toxicity of T. aphylla (L. Karst) methanol extract. T. aphylla leaves extract was administered intraperitoneally (100 mg, 250 mg and 400 mg/kg body weight per day) to diabetic Wister rats for 21 days. The various parameters were studied including fasting blood glucose levels, haemoglobin and glycosylated haemoglobin. Results The treatment groups with the extract at three dose levels expressively abridged the intensities of blood glucose and Glycosylated Haemoglobin. The earlier detected reduced level of plasma haemoglobin of the diabetic rats was raised to near normalcy with treatment of extract. Conclusions The results of the current study confirm that the leaves extract of T. aphylla are nontoxic and have antidiabetic nature.
4.Outcomes of Primary Unilateral Cheiloplasty in Same-Day Surgical Settings.
Mansoor KHAN ; Hidayat ULLAH ; Asif AZIZ ; Muhammad TAHIR
Archives of Plastic Surgery 2016;43(3):248-253
BACKGROUND: Financial, clinical, and psychological considerations have made same-day surgery an attractive option for a variety of procedures. This article aimed to analyse the postoperative results of same-day primary unilateral cleft nasolabial repair. METHODS: This study was performed from 2011 to 2014. Unilateral cleft lip patients fulfilling the inclusion criteria were preoperatively classified as mild, moderate, and severe. All patients underwent same-day surgery and were discharged after satisfying the appropriate clinical criteria, receiving thorough counselling, and the establishment of a means of communication by phone. Postoperative outcomes were assessed and stratified according to preoperative severity and the type of repair. RESULTS: A total of 423 primary unilateral cleft lip patients were included. Fisher's anatomical subunit approximation technique was the most common procedure, followed by Noordhoff's technique. The postoperative outcome was good in 89.8% of cases, fair in 9.9% of cases, and poor in 0.2% of cases. The complication rate was 1.18% (n=5), and no instances of mortality were observed. The average hospital stay was 7.5 hours, leading to a cost reduction of 19% in comparison with patients who stayed overnight for observation. CONCLUSIONS: Mild unilateral cleft lip was the most common deformity for which Fisher's anatomical subunit approximation technique was performed in most of the cases, with satisfactory postoperative outcomes. Refinements in the cleft rhinoplasty techniques over the course of the study improved the results regarding cleft nasal symmetry. Single-day primary unilateral cleft cheiloplasty was found to be a cost-effective procedure that did not pose an additional risk of complications.
Cleft Lip
;
Congenital Abnormalities
;
Day Care, Medical
;
Humans
;
Length of Stay
;
Mortality
;
Rhinoplasty

Result Analysis
Print
Save
E-mail