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1.  Preventing glass injuries in the emergency department 
PMCID: PMC2658169  PMID: 17183060
2.  Association of the MTHFR C677T (rs1801133) polymorphism with idiopathic male infertility in a local Pakistani population 
The present study determined an association between idiopathic sperm disorders in a local Pakistani infertile male population and the MTHFR C677T polymorphism. After ruling out non genetic factors, a total of 437 idiopathic infertile men including 57 azoospermic, 66 oligospermic, 44 asthenozoospermic, 29 teratozoospermic, 20 oligoasthenospermic and 221 infertile normospermic men were recruited. Furthermore, 218 normospermic fertile men, who had two children (or more) were included as controls. The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique was used to determine MTHFR C677T (rs1801133) polymorphism. A significant association of the minor MTHFR 677T allele with male infertility was observed (p <0.05). In addition, men with MTHFR 677 CT and TT genotypes were at a greater risk [odds ratio (OR): 1.81, 95% confidence interval (95% CI): 1.17-2.80, p = 0.008 and OR: 9.24, 95% CI: 1.20-70.92, p = 0.032, respectively] of infertility. All the subgroups of male infertility (azoospermic, oligospermic, asthenospermic, oligoasthenoteratospermic (OAT) and normospermic infertile) had significantly (p <0.05) higher frequencies of CT and TT genotypes when compared to fertile men. The combined genotypes (CT + TT) were also found significantly (OR: 2.01, 95% CI: 1.31-3.08, p <0.001) associated with male infertility. The results suggest that the polymorphism might be a factor of male infertility in the Pakistani population.
PMCID: PMC5026280  PMID: 27785408
Male Infertility; MTHFR; Polymorphism; Reproduction; Sperm disorders
3.  Mucoepidermoid Lung Carcinoma in Child 
Mucoepidermoid carcinoma (MEC) is a rare malignant tumor arising from the bronchial gland. A case of 6-year-old male child who presented with fever, hemoptysis and wheezing since 1month is reported. Chest X-ray showed features suggestive of foreign body with post-obstructive pneumonia and was treated for the same with medication without much improvement. Subsequently computerized tomography scan chest was carried out, which showed oval mass with speculated margin in right hilar region with distal segmental atelectasis. Bronchoscopy showed small growth with nodularity in the apical segmental bronchus of the right lower lobe with mucosal erosion and hence carried out broncho-alveolar lavage showed few atypical squamous cells. Patient underwent right lower lobectomy, which showed a grey white oval mass with solid and cystic areas in the right hilar region with extension in to the lung parenchyma. Histology of the tumor showed mixed solid and cystic areas with sheets of epidermoid cells and mucus-filled cysts of irregular size. Areas of solid growth were composed of squamoid and intermediate cells. Hence, the final diagnosis of mucoepidermoid carcinoma (MEC) intermediate grade of the lung was made. Early diagnosis can be accomplished if the clinician is alert to persistent pneumonia, coughing and tumor obstruction on image studies. MEC is a comparatively rare low-grade tumor, which reportedly carries a good prognosis with early surgical intervention.
PMCID: PMC3991955  PMID: 24761253
Lobectomy; Lung; Mucoepidermoid carcinoma; Periodic acid-Schiff
4.  Entonox® inhalation to reduce pain in common diagnostic and therapeutic outpatient urological procedures: a review of the evidence 
Entonox® (50% nitrous oxide and 50% oxygen; BOC Healthcare, Manchester, UK) is an analgesic and anxiolytic agent that is used to successfully reduce pain and anxiety during dental, paediatric and emergency department procedures. In this article we review the application and efficacy of Entonox® in painful local anaesthesia urological procedures by performing a systematic review of the literature.
A MEDLINE® search was performed using the terms ‘nitrous oxide’, ‘Entonox’, ‘prostate biopsy’, ‘flexible cystoscopy’ and ‘extracorporeal shock wave lithotripsy’. English language publications of randomised studies were identified and reviewed.
The search yielded five randomised studies that investigated the clinical efficacy of Entonox® as an analgesic for day case urological procedures. Three randomised controlled trials (RCTs) investigated Entonox® in transrectal ultrasonography guided prostate biopsy. All three reported significant reductions in pain score in the Entonox® versus control groups. One RCT reported significant reduction in pain during male flexible cystoscopy in the Entonox® group compared with the control group. One RCT, which examined the use of Entonox® during extracorporeal shock wave lithotripsy, found its use significantly decreased the pain score compared with the control group and this was comparable to intravenous pethidine.
Evidence from varied adult and paediatric procedures has shown Entonox® to be an effective, safe and patient acceptable form of analgesia. All published studies of its use in urological day case procedures have found it to significantly reduce procedural pain. There is huge potential to use this cheap, safe, effective analgesic in our current practice.
PMCID: PMC3954179  PMID: 22524905
Urology; Analgesia; Pain
7.  Inhibition of the aquaporin 3 water channel increases the sensitivity of prostate cancer cells to cryotherapy 
British Journal of Cancer  2009;100(12):1889-1895.
Aquaporins (AQPs) are intrinsic membrane proteins that facilitate selective water and small solute movement across the plasma membrane. In this study, we investigate the role of inhibiting AQPs in sensitising prostate cancer cells to cryotherapy. PC-3 and DU145 prostate cancer cells were cooled to 0, −5 and −10°C. The expression of AQP3 in response to freezing was determined using real-time quantitative polymerase chain reaction (RT–qPCR) and western blot analysis. Aquaporins were inhibited using mercuric chloride (HgCl2) and small interfering RNA (siRNA) duplex, and cell survival was assessed using a colorimetric assay. There was a significant increase in AQP3 expression in response to freezing. Cells treated with AQP3 siRNA were more sensitive to cryoinjury compared with control cells (P<0.001). Inhibition of the AQPs by HgCl2 also increased the sensitivity of both cell lines to cryoinjury and there was a complete loss of cell viability at −10°C (P<0.01). In conclusion, we have shown that AQP3 is involved directly in cryoinjury. Inhibition of AQP3 increases the sensitivity of prostate cancer cells to freezing. This strategy may be exploited in the clinic to improve the efficacy of prostate cryotherapy.
PMCID: PMC2714232  PMID: 19513079
AQP3; cryotherapy; prostate cancer
8.  Identification of novel mutations in the SEMA4A gene associated with retinal degenerative diseases 
Journal of Medical Genetics  2005;43(4):378-381.
Semaphorins are a large family of transmembrane proteins. The gene for SEMA4A encodes a transmembrane protein comprising 760 amino acids. To investigate its association with human retinal degeneration, mutation screening of the SEMA4A gene was carried out on 190 unrelated patients suffering from a variety of eye diseases. We report the first observation of the involvement of SEMA4A gene mutations causing retinitis pigmentosa (RP) and cone rod dystrophy (CRD). We screened the DNA of 135 patients with RP, 25 patients with CRD, and 30 with LCA using SSCP and direct DNA sequencing for mutations in the SEMA4A gene. Two mutations, p.D345H and p.F350C, were observed only in affected patients; they were not observed in any of the normal members or the 100 control subjects. Both mutations identified occur in the conserved semaphorin domain. Multiple sequence alignments using Clustal analysis showed that R713Q is a conserved substitution and D345H is a semi‐conserved substitution. We conclude that these mutations are a cause of various retinal degenerations.
PMCID: PMC2563224  PMID: 16199541
SEMA4A; retinal degeneration; retinitis pigmentosa; cone rod dystrophy
9.  Novel association of RP1 gene mutations with autosomal recessive retinitis pigmentosa 
Journal of Medical Genetics  2005;42(5):436-438.
PMCID: PMC1736063  PMID: 15863674
10.  Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy 
Journal of Medical Genetics  2003;40(8):616-619.
PMCID: PMC1735563  PMID: 12920076
11.  Thyrotoxicosis of a rare aetiology 
Postgraduate Medical Journal  2000;76(902):799-800.
PMCID: PMC1741831  PMID: 11085778
12.  A rare cause of right-sided abdominal pain in a young woman 
Postgraduate Medical Journal  2000;76(891):43-44.
PMCID: PMC1741458  PMID: 10622784
13.  An elderly man with diarrhoea and cellulitis 
Postgraduate Medical Journal  1999;75(889):685-686.
PMCID: PMC1741399  PMID: 10621885
14.  Phenotype of autosomal recessive congenital microphthalmia mapping to chromosome 14q32 
BACKGROUND—Congenital microphthalmia (OMIM: 309700) may occur in isolation or in association with a variety of systemic malformations. Isolated microphthalmia may be inherited as an autosomal dominant, an autosomal recessive, or an X linked trait.
METHODS—Based on a whole genome linkage analysis, in a six generation consanguineous family with autosomal recessive inheritance, the first locus for isolated microphthalmia was mapped to chromosome 14q32. Eight members of this family underwent clinical examination to determine the nature of the microphthalmia phenotype associated with this locus.
RESULTS—All affected individuals in this family suffered from bilateral microphthalmia in association with anterior segment abnormalities, and the best visual acuity achieved was "perception of light". Corneal changes included partial or complete congenital sclerocornea, and the later development of corneal vascularisation and anterior staphyloma. Intraocular pressure, as measured by Schiotz tonometry, was greatly elevated in many cases.
CONCLUSIONS—This combination of ocular defects suggests an embryological disorder involving tissues derived from both the neuroectoderm and neural crest. Other families with defects in the microphthalmia gene located on 14q32 may have a similar ocular phenotype aiding their identification.

PMCID: PMC1723146  PMID: 10413693
15.  Malignant eccrine spiradenoma with carcinomatous and sarcomatous elements. 
Journal of Clinical Pathology  1997;50(10):871-873.
A case of a 60 year old man with malignant eccrine spiradenoma involving the perineum is described. Areas of typical eccrine spiradenoma were admixed with carcinomatous and sarcomatous elements. Immunohistochemical and ultrastructural analysis revealed no evidence of epithelial differentiation in the sarcomatous areas. The tumour qualified for the designation carcinosarcoma arising in eccrine spiradenoma. The clinical course was aggressive with rapid development of nodal and pulmonary metastases.
PMCID: PMC500274  PMID: 9462275
16.  Cervical ripening with prostaglandin gel and hygroscopic dilators. 
OBJECTIVE: To study the effectiveness and morbidity of adding hygroscopic cervical dilators to prostaglandin gel for cervical ripening and labor induction. STUDY DESIGN: Patients of at least 34 weeks' gestation with a medical indication for induction of labor and with a modified Bishop score of 5 or less were randomized to receive either prostaglandin gel or prostaglandin gel with hygroscopic cervical dilators. Primary outcomes were time to delivery, change in cervical score, and infection. Secondary outcomes included cesarean delivery rate and deliveries before 24 hours of induction. Continuous variables were analyzed by Wilcoxon sum rank test and categorical data by chi-square or Fisher exact test, with P < 0.05 being significant. RESULTS: Seventeen patients were randomized to intracervical prostaglandin alone and 23 patients received intracervical prostaglandin plus hygroscopic dilators. No demographic differences were noted between the groups. After six hours of ripening, the combined group achieved a greater change in Bishop score (3.6 vs. 2.1, P = 0.007) and tended to have a shorter induction time (21.7 vs. 26.4 hours, P = 0.085). The combined therapy group had a higher infection rate than the prostaglandin-only group (59% vs. 12%, P = 0.003). CONCLUSION: Combining cervical dilators with prostaglandin gel provides more effective cervical ripening and a more rapid induction to delivery interval than prostaglandin alone but with a significant and prohibitive rate of infection.
PMCID: PMC1784771  PMID: 9678143

Results 1-16 (16)