Thyroid cancer, the commonest of endocrine malignancies, continues to increase in incidence with ... more Thyroid cancer, the commonest of endocrine malignancies, continues to increase in incidence with over 19,000 new cases diagnosed in the European Union per year. Although nonmedullary thyroid cancer (NMTC) is mostly sporadic, evidence for a familial form, which is not associated with other Mendelian cancer syndromes (e.g., familial adenomatous polyposis and Cowden's syndrome), is well documented and thought to cause more aggressive disease. Just over a decade ago, the search for a genetic susceptibility locus for familial NMTC (FNMTC) began. This review details the genetic studies conducted thus far in the search for potential genes for FNMTC. An electronic PubMed search was performed from the English literature for genetics of FNMTC and genetics of familial papillary thyroid carcinoma (subdivision of FNMTC). The references from the selected papers were reviewed to identify further studies not found in the original search criteria. Six potential regions for harboring an FNMTC gene have been identified: MNG1 (14q32), TCO (19p13.2), fPTC/PRN (1q21), NMTC1 (2q21), FTEN (8p23.1-p22), and the telomere-telomerase complex. Important genes reported to have been excluded are RET, TRK, MET, APC, PTEN, and TSHR. The genetics of FNMTC is an exciting field in medical research that has the potential to permit individualized management of thyroid cancer. Studies thus far have been on small family groups using varying criteria for the diagnosis of FNMTC. Results have been contradictory and further large-scale genetic studies utilizing emerging molecular screening tests are warranted to elucidate the underlying genetic basis of FNMTC.
Women's access to health and family planning services is limited in Pakistan, despite a grow... more Women's access to health and family planning services is limited in Pakistan, despite a growing contraceptive prevalence rate. In 1997, a small, qualitative study in three villages in rural Punjab explored restrictions on female mobility and other social barriers to accessing these ...
Objectives : To determine whether paternal factors i.e., age, tobacco use and genital tract infec... more Objectives : To determine whether paternal factors i.e., age, tobacco use and genital tract infection increase the risk for spontaneous first trimester miscarriage. Methodology : This case control study was conducted in the Department of Obstetrics & Gynaecology, Unit V / IV, Dow Medical College & Lyari General Hospital, Dow University of Health Sciences, Karachi, Pakistan. Duration of study was two and half years, from Nov, 2007 to Apr, 2010. Inclusion criteria were pregnant women with age 20 - 35 years irrespective of parity. Exclusion criteria were known medical illness in either partner, induced abortion and recurrent miscarriages. Studied paternal factors were age, tobacco use and genital tract infection. Data was computed using SPSS version 16. Significance of paternal factors was determined by Logistic Regression Analysis. Results : Total cases studied were 200, while there were 400 controls. Mean maternal age was 27.6±4.9 years in cases and 26.5±4.5 years in controls. Mean paternal age was 35.5±6.2 years in cases and 32.3±5.4 years in controls. Paternal age was >35 years in 54.5% cases and 16.8% controls. Spearman Bivariate correlation revealed paternal age > 35 years (p=0.000) and genital tract infection (p=0.043) as significant factors. Only paternal age >35 years (p=0.000) remained significant in Final Model after entering into logistic regression. Paternal age beyond 35 years was found to be significantly related to first trimester spontaneous miscarriages.
To determine predictors of response to light therapy (LT) for seasonal affective disorder, winter... more To determine predictors of response to light therapy (LT) for seasonal affective disorder, winter version, in a clinical office setting for patients with a spectrum of seasonality defined by the Seasonal Pattern Assessment Questionnaire (SPAQ). A retrospective review was done of charts of 51 patients who had been treated with a 1-week light therapy intervention. Patient self-rated scales applied in a standard manner were used to measure clinical progress. The Beck Depression Inventory (BDI) with added atypical features was used as the primary outcome variable. Sleep patterns were analyzed and the effect of psychotropic medications on outcome was determined. Seven point scales were used to assess expected response and global response. The importance of having LT set up and available in an office setting was evaluated. Retrospective degree of disability was measured based on the SPAQ degree of problem. The severity of the depressive episode was determined based on BDI score at entry. Seasonality (how a patient's symptoms vary as a function of the season of the year), degree of disability based on the SPAQ, and severity of depressive episode at entry based on the BDI predicted response to LT. Greater severity at baseline based on BDI score predicted less chance of attaining full remission within 7 days of treatment compared with patients with lower severity scores at entry on the BDI. Sleep patterns relative to a fixed treatment time of 7 AM did not predict LT response. Light therapy was effective on its own, and the results were mixed as to whether adding LT to an existing antidepressant medication produced superior results. Degree of seasonality can be used as a predictor of response to LT and may be clinically useful when suggesting that patients consider a trial of LT.
Case report We report a 7-month-old female patient born to consan-guineous parents as a full-term... more Case report We report a 7-month-old female patient born to consan-guineous parents as a full-term normal delivery. She has two healthy elder brothers. Her mother also had still-birth of a female child at 7 months of gestation. ... Our patient presented with left clinical ...
Thyroid cancer, the commonest of endocrine malignancies, continues to increase in incidence with ... more Thyroid cancer, the commonest of endocrine malignancies, continues to increase in incidence with over 19,000 new cases diagnosed in the European Union per year. Although nonmedullary thyroid cancer (NMTC) is mostly sporadic, evidence for a familial form, which is not associated with other Mendelian cancer syndromes (e.g., familial adenomatous polyposis and Cowden's syndrome), is well documented and thought to cause more aggressive disease. Just over a decade ago, the search for a genetic susceptibility locus for familial NMTC (FNMTC) began. This review details the genetic studies conducted thus far in the search for potential genes for FNMTC. An electronic PubMed search was performed from the English literature for genetics of FNMTC and genetics of familial papillary thyroid carcinoma (subdivision of FNMTC). The references from the selected papers were reviewed to identify further studies not found in the original search criteria. Six potential regions for harboring an FNMTC gene have been identified: MNG1 (14q32), TCO (19p13.2), fPTC/PRN (1q21), NMTC1 (2q21), FTEN (8p23.1-p22), and the telomere-telomerase complex. Important genes reported to have been excluded are RET, TRK, MET, APC, PTEN, and TSHR. The genetics of FNMTC is an exciting field in medical research that has the potential to permit individualized management of thyroid cancer. Studies thus far have been on small family groups using varying criteria for the diagnosis of FNMTC. Results have been contradictory and further large-scale genetic studies utilizing emerging molecular screening tests are warranted to elucidate the underlying genetic basis of FNMTC.
Women's access to health and family planning services is limited in Pakistan, despite a grow... more Women's access to health and family planning services is limited in Pakistan, despite a growing contraceptive prevalence rate. In 1997, a small, qualitative study in three villages in rural Punjab explored restrictions on female mobility and other social barriers to accessing these ...
Objectives : To determine whether paternal factors i.e., age, tobacco use and genital tract infec... more Objectives : To determine whether paternal factors i.e., age, tobacco use and genital tract infection increase the risk for spontaneous first trimester miscarriage. Methodology : This case control study was conducted in the Department of Obstetrics & Gynaecology, Unit V / IV, Dow Medical College & Lyari General Hospital, Dow University of Health Sciences, Karachi, Pakistan. Duration of study was two and half years, from Nov, 2007 to Apr, 2010. Inclusion criteria were pregnant women with age 20 - 35 years irrespective of parity. Exclusion criteria were known medical illness in either partner, induced abortion and recurrent miscarriages. Studied paternal factors were age, tobacco use and genital tract infection. Data was computed using SPSS version 16. Significance of paternal factors was determined by Logistic Regression Analysis. Results : Total cases studied were 200, while there were 400 controls. Mean maternal age was 27.6±4.9 years in cases and 26.5±4.5 years in controls. Mean paternal age was 35.5±6.2 years in cases and 32.3±5.4 years in controls. Paternal age was >35 years in 54.5% cases and 16.8% controls. Spearman Bivariate correlation revealed paternal age > 35 years (p=0.000) and genital tract infection (p=0.043) as significant factors. Only paternal age >35 years (p=0.000) remained significant in Final Model after entering into logistic regression. Paternal age beyond 35 years was found to be significantly related to first trimester spontaneous miscarriages.
To determine predictors of response to light therapy (LT) for seasonal affective disorder, winter... more To determine predictors of response to light therapy (LT) for seasonal affective disorder, winter version, in a clinical office setting for patients with a spectrum of seasonality defined by the Seasonal Pattern Assessment Questionnaire (SPAQ). A retrospective review was done of charts of 51 patients who had been treated with a 1-week light therapy intervention. Patient self-rated scales applied in a standard manner were used to measure clinical progress. The Beck Depression Inventory (BDI) with added atypical features was used as the primary outcome variable. Sleep patterns were analyzed and the effect of psychotropic medications on outcome was determined. Seven point scales were used to assess expected response and global response. The importance of having LT set up and available in an office setting was evaluated. Retrospective degree of disability was measured based on the SPAQ degree of problem. The severity of the depressive episode was determined based on BDI score at entry. Seasonality (how a patient's symptoms vary as a function of the season of the year), degree of disability based on the SPAQ, and severity of depressive episode at entry based on the BDI predicted response to LT. Greater severity at baseline based on BDI score predicted less chance of attaining full remission within 7 days of treatment compared with patients with lower severity scores at entry on the BDI. Sleep patterns relative to a fixed treatment time of 7 AM did not predict LT response. Light therapy was effective on its own, and the results were mixed as to whether adding LT to an existing antidepressant medication produced superior results. Degree of seasonality can be used as a predictor of response to LT and may be clinically useful when suggesting that patients consider a trial of LT.
Case report We report a 7-month-old female patient born to consan-guineous parents as a full-term... more Case report We report a 7-month-old female patient born to consan-guineous parents as a full-term normal delivery. She has two healthy elder brothers. Her mother also had still-birth of a female child at 7 months of gestation. ... Our patient presented with left clinical ...
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