Riazuddin S.,Cincinnati Childrens Hospital Medical Center |
Riazuddin S.,University of Cincinnati |
Belyantseva I.A.,National Institute on Deafness and Other Communication Disorders |
Giese A.P.J.,Cincinnati Childrens Hospital Medical Center |
And 33 more authors.
Nature Genetics | Year: 2012
Sensorineural hearing loss is genetically heterogeneous. Here, we report that mutations in CIB2, which encodes a calcium-and integrin-binding protein, are associated with nonsyndromic deafness (DFNB48) and Usher syndrome type 1J (USH1J). One mutation in CIB2 is a prevalent cause of deafness DFNB48 in Pakistan; other CIB2 mutations contribute to deafness elsewhere in the world. In mice, CIB2 is localized to the mechanosensory stereocilia of inner ear hair cells and to retinal photoreceptor and pigmented epithelium cells. Consistent with molecular modeling predictions of calcium binding, CIB2 significantly decreased the ATP-induced calcium responses in heterologous cells, whereas mutations in deafness DFNB48 altered CIB2 effects on calcium responses. Furthermore, in zebrafish and Drosophila melanogaster, CIB2 is essential for the function and proper development of hair cells and retinal photoreceptor cells. We also show that CIB2 is a new member of the vertebrate Usher interactome. © 2012 Nature America, Inc. All rights reserved.
Iqbal J.,Womens College Research Institute |
Ali Z.,Comprehensive Cancer Center |
Khan A.-U.-N.,Allama Iqbal Medical College |
Aziz Z.,Allama Iqbal Medical College
Leukemia and Lymphoma | Year: 2014
Treatment of chronic myeloid leukemia (CML) is challenging in patients who want to conceive. We followed 809 patients with CML treated with imatinib mesylate (IM). We observed outcomes in 90 pregnancies from 61 patients (21 females, 40 males) who conceived while on IM. Information was obtained on duration of exposure to IM, pregnancy termination and congenital abnormalities. Hematologic and cytogenetic responses were also recorded. Twenty-eight pregnancies occurred among females, while 62 were reported from male patients. Among female patients, 19 (67.9%) pregnancies were uneventful while six (21.4%) ended in adverse events. Only 12 (57%) females reported their pregnancies. Three (4.4%) adverse events were reported from male patients. Pregnancy is an important part of life in our young patients due to cultural and societal pressures. It is paramount to counsel pregnant patients to switch to drugs with no adverse effect on the developing fetus. However, lack of communication is a major factor preventing physicians from counseling patients about conception. © 2014 Informa UK, Ltd.
Baqai M.T.,Islamic International Medical College |
Malik M.N.,Allama Iqbal Medical College |
Ziauddin F.,Ziauddin University
Journal of the Pakistan Medical Association | Year: 2013
Objective: To study the efficacy and safety of cinitapride in the treatment of functional dyspepsia, and to evaluate the improvement of patients' quality of life. Methods: The prospective cross-sectional multi-centre phase IV study was conducted at Jinnah Hospital, Lahore, Ziauddin Medical University, Karachi and Pakistan Railways General Hospital, Rawalpindi, from July 2009 to June 2010 and comprised 121 patients of functional dyspepsia who were given cinitapride 1mg thrice daily 15 minutes before meals and were followed up for four weeks. Primary clinical response was assessed by using the Global Index Score. Secondary response was seen by percentage change of the total score as well as of each dyspepsia symptom compared with baseline and the overall subjective assessment of patients by using the 7-point Likert's scale. Reduction in Nepean Dyspepsia Index-Short Farm was used to evaluate the improvement in quality of life of patients at week 2 and 4. SPSS 15 used for statistical analysis. Results: After 4 weeks of treatment, the Global Index Score showed statistically significant reduction in 58 (48.92%) patients (p<0.01). Similar reduction (p<0.01) was seen in individual dyspepsia symptoms; early satiety, post-prandial fullness, and abdominal distension. The 7 point Likert's scale also showed similar improvement in subjective response (p<0.01). The quality of life also improved significantly at week 2 and 4 (p<0.01). No abnormal results were seen in vital signs, physical and laboratory examination except an unexplained rise in globulin level. Only one adverse event (sore throat) was reported during the study. Conclusion: The drug was effective in minimising dyspepsia symptoms, and improving the quality of life of patients. It was well tolerated and was almost free of side effects.
Khan A.F.A.,Allama Iqbal Medical College |
Chaudhri R.,Rawalpindi Medical College |
Ashraf M.A.,Social Security Hospital |
Mazaffar M.S.,Cantonment General Hospital |
Zawar-ul-Imam S.,Shah Bhitai Government Hospital
Phlebology | Year: 2013
Our objective was to study the prevalence and clinical pattern of chronic venous disease (CVD) in the Pakistani population. This was a multicentre cross-sectional study in which 100 primary care physicians examined 3000 subjects. The study population was aged 18-95 years (mean ± SD = 39 ± 13.2) comprised 47.4% women and 52.6% men. The prevalence of CVD was 34.8%, being significantly higher (P < 0.04) among men (36.4%) than women (33.0%). The maximum prevalence was of C3 (36.7%), followed by C2 (15.8%). The most frequent symptom was pain in the legs (59.2%) followed by heavy legs (42.7%) and night cramps (34.4%). The prevalence of symptoms increased with age but was similarly distributed between men and women. Family history of CVD, blood clots in veins and lack of exercise were significant risk factors. The roles of age or gender as risk factors could not be established. In conclusion, the prevalence and presentation of CVD in Pakistan is similar to most other countries.
News Article | February 28, 2017
The International Association of HealthCare Professionals is pleased to welcome Talat Q. Alvi, MD, Neurologist to their prestigious organization with his upcoming publication in The Leading Physicians of the World. Dr. Talat Q. Alvi is a highly trained and qualified neurologist with an extensive expertise in all facets of his work, especially neuromuscular medicine. Dr. Alvi is currently serving patients within his own private practice, and is affiliated with multiple hospitals including Novant Health, Forsyth Medical Center, and McLeod Regional Medical Center. Dr. Alvi attended Allama Iqbal Medical College in Lahore, Pakistan, where he graduated with his Medical Degree in 1989. Upon relocating to the United States, he completed an internship at Franklin Square Hospital and residency at Howard University Hospital, before undertaking his fellowship training at Yale-New Haven Hospital. Dr. Alvi is board certified in Neurology by the American Board of Psychiatry and Neurology. To keep up to date with the latest advances and developments in his field, Dr. Alvi maintains a professional membership with the American Academy of Neurology. For his wealth of experience and knowledge, he was awarded by the American Academy of Neurology in 2008. He attributes his success to his perseverance and love of the field of neurological medicine, and when he is not working, Dr. Alvi enjoys traveling internationally and spending time with his family and friends. Learn more about Dr. Alvi by reading his upcoming publication in The Leading Physicians of the World. FindaTopDoc.com is a hub for all things medicine, featuring detailed descriptions of medical professionals across all areas of expertise, and information on thousands of healthcare topics. Each month, millions of patients use FindaTopDoc to find a doctor nearby and instantly book an appointment online or create a review. FindaTopDoc.com features each doctor’s full professional biography highlighting their achievements, experience, patient reviews and areas of expertise. A leading provider of valuable health information that helps empower patient and doctor alike, FindaTopDoc enables readers to live a happier and healthier life. For more information about FindaTopDoc, visit http://www.findatopdoc.com
Li L.,U.S. National Institutes of Health |
Li L.,Sun Yat Sen University |
Nakaya N.,U.S. National Institutes of Health |
Chavali V.R.M.,University of California at San Diego |
And 10 more authors.
American Journal of Human Genetics | Year: 2010
Retinitis pigmentosa (RP) is a phenotypically and genetically heterogeneous group of inherited retinal degenerations characterized clinically by night blindness, progressive constriction of the visual fields, and loss of vision, and pathologically by progressive loss of rod and then cone photoreceptors. Autosomal-recessive RP (arRP) in a consanguineous Pakistani family previously linked to chromosome 2p22.3-p24.1 is shown to result from a homozygous missense mutation (c.1015T>C [p.C339R]) in ZNF513, encoding a presumptive transcription factor. znf513 is expressed in the retina, especially in the outer nuclear layer, inner nuclear layer, and photoreceptors. Knockdown of znf513 in zebrafish reduces eye size, retinal thickness, and expression of rod and cone opsins and causes specific loss of photoreceptors. These effects are rescued by coinjection with wild-type (WT) but not p.C339R-znf513 mRNA. Both normal and p.C339R mutant ZNF513 proteins expressed in COS-7 cells localize to the nucleus. ChIP analysis shows that only the wild-type but not the mutant ZNF513 binds to the Pax6, Sp4, Arr3, Irbp, and photoreceptor opsin promoters. These results suggest that the ZNF513 p.C339R mutation is responsible for RP in this family and that ZNF513 plays a key role in the regulation of photoreceptor-specific genes in retinal development and photoreceptor maintenance. © 2010 The American Society of Human Genetics.
Chen J.,U.S. National Institutes of Health |
Ma Z.,U.S. National Institutes of Health |
Jiao X.,U.S. National Institutes of Health |
Fariss R.,U.S. National Institutes of Health |
And 12 more authors.
American Journal of Human Genetics | Year: 2011
Congenital cataracts (CCs), responsible for about one-third of blindness in infants, are a major cause of vision loss in children worldwide. Autosomal-recessive congenital cataracts (arCC) form a clinically diverse and genetically heterogeneous group of disorders of the crystalline lens. To identify the genetic cause of arCC in consanguineous Pakistani families, we performed genome-wide linkage analysis and fine mapping and identified linkage to 3p21-p22 with a summed LOD score of 33.42. Mutations in the gene encoding FYVE and coiled-coil domain containing 1 (FYCO1), a PI(3)P-binding protein family member that is associated with the exterior of autophagosomes and mediates microtubule plus-end-directed vesicle transport, were identified in 12 Pakistani families and one Arab Israeli family in which arCC had previously been mapped to the overlapping CATC2 region. Nine different mutations were identified, including c.3755 delC (p.Ala1252AspfsX71), c.3858-3862dupGGAAT (p.Leu1288TrpfsX37), c.1045 C>T (p.Gln349X), c.2206C>T (p.Gln736X), c.2761C>T (p.Arg921X), c.2830C>T (p.Arg944X), c.3150+1 G>T, c.4127T>C (p.Leu1376Pro), and c.1546C>T (p.Gln516X). Fyco1 is expressed in the mouse embryonic and adult lens and peaks at P12d. Expressed mutant proteins p.Leu1288TrpfsX37 and p.Gln736X are truncated on immunoblots. Wild-type and p.L1376P FYCO1, the only missense mutant identified, migrate at the expected molecular mass. Both wild-type and p. Leu1376Pro FYCO1 proteins expressed in human lens epithelial cells partially colocalize to microtubules and are found adjacent to Golgi, but they primarily colocalize to autophagosomes. Thus, FYCO1 is involved in lens development and transparency in humans, and mutations in this gene are one of the most common causes of arCC in the Pakistani population. © 2011 The American Society of Human Genetics.
Raza M.H.,U.S. National Institutes of Health |
Raza M.H.,University of Punjab |
Riazuddin S.,University of Punjab |
Riazuddin S.,Allama Iqbal Medical College |
Drayna D.,U.S. National Institutes of Health
Human Genetics | Year: 2010
Stuttering is a common speech disorder with substantial genetic contributions. To better understand the genetic factors involved in stuttering, we performed a genome-wide linkage study in a newly-ascertained consanguineous stuttering family from Pakistan. A linkage scan in this family using parametric linkage analysis revealed significant linkage only on chromosome 3q13.2-3q13.33, with a maximum two-point LOD score of 4.23 under an autosomal recessive model of inheritance. © 2010 US Government.
Moeen-ud-din H.,Allama Iqbal Medical College |
Murad S.,Pharmacology |
Fatima A.,LM and DC
Pakistan Journal of Medical and Health Sciences | Year: 2014
To get good compliance of therapeutic goal of hypolipidemic agents by cardiologist and patient, some herbal drugs have had been used by some expert cardiologists. Among those herbal medicines Kalonji is most important drug used as hypolipidemic agent. In this research work hypolipidemic effects of kalonji are compared with hypolipidemic effects of Niacin. It was single blind placebo-controlled comparative study, conducted at Jinnah Hospital, Lahore from September 2013 to December 2013. Ninety hyperlipidemic patients were enrolled after written and well explained consent. Ninety patients were divided in three groups, one group as placebo and other two groups for Niacin and kalonji. After six weeks of therapy by 2 medicines, research proved highly significant changes in LDL-cholesterol, but significant changes in HDL-cholesterol in hyperlipidemic patients.
Ashraf A.,Fatima Jinnah Medical College |
Shaikh A.S.,King Edward Medical University |
Kamal F.,Fatima Jinnah Medical College |
Sarfraz R.,Allama Iqbal Medical College |
Bukhari M.H.,King Edward Medical University
Diagnostic Cytopathology | Year: 2010
A prospective study was conducted to see the sensitivity, specificity, and accuracy of fine needle aspiration cytology (FNAC) for 100 salivary gland swellings in comparison with biopsy. These randomized samples were submitted and reported at the department of pathology, Allama Iqbal Medical College, Lahore. The male to female ratio was 1:1.5. Ages of the patients ranged from 8.5 to 58 years with mean age 33.39 ± 12.37 years. Maximum number of lesions was found in age group between 21 and 40 years. Parotid gland was involved in 68%, submandibular gland in 30%, and minor salivary glands in 2% patients. Sublingual gland was not involved in any of our subjects. There were 14% cases of non-neoplastic lesions and 86% cases of neoplastic lesions on biopsy. Non-neoplastic lesions included 12 cases of inflammations (three cases of granulomatous inflammation and nine cases of nonspecific chronic inflammation) and two cases of inclusion cysts. Among neoplastic lesions, biopsy revealed 68 cases of benign neoplasia and 18 cases of malignant neoplasia. Non-neoplastic lesions did not show any difference in diagnosis by both techniques. FNAC misdiagnosed four malignant and one benign lesion. Sensitivity, specificity, positive predictive value, and negative predictive value of FNAC for benign neoplastic lesions were 98.52, 87.05, 94.36, and 96.55%, respectively, whereas for malignant neoplastic lesions they were 77.77, 98.78, 93.33, and 95.29%, respectively. In conclusion, FNAC is found to be a highly sensitive and specific technique for diagnosis of most of salivary gland swellings, except for malignant neoplastic lesions where its sensitivity is intermediate. We strongly recommend that FNAC should be adopted as an initial investigation for all salivary gland swellings. © 2009 Wiley-Liss, Inc.