Pakistani Patients Research Articles

Clinical Characteristics and Demographic Correlates of Conversion Disorder in Pakistani Patients: A study from a Psychiatry Unit in PIMS Islamabad

Background: Conversion disorder is a mental illness that presents with physical symptoms due to underlying emotional distress or conflict, commonly seen in adolescents and young adults, and often associated with other psychiatric disorders. These symptoms typically involve sensory or motor problems that resemble neurological disorders. The disorder is divided into subtypes and la belle indifference, a lack of concern about the symptoms, is a distinctive feature. Although the exact cause of conversion disorder is not fully understood, both psychological and biological factors are believed to contribute to its development. Aim: The aim of this study was to provide a comprehensive overview of the clinical characteristics of patients with conversion disorder seeking treatment in Pakistan. The aim was to examine predominant clinical manifestations and to determine the impact of demographic variables. Methods: For this study, a sample of 30 diagnosed conversion disorder patients from the Pakistan Institute of Medical Sciences was selected using non-probability sampling. Inclusion criteria stated that the patients had a diagnosis of conversion disorder, were between 15 and 45 years of age and were receiving psychiatric treatment. Patients with medical conditions other than psychiatry were excluded. Data collection involved the use of a demographic information collection form and a symptom checklist. Statistical analysis consisted of calculating the frequency and percentage of symptoms experienced by the patients in the sample. Results: Among the patients, the majority were female (70%), unmarried (63.3%), and of low socioeconomic status (63.3%). The most frequently reported symptoms were unconsciousness (29%) and paralysis (26.4%). The duration of episodes varied from less than an hour to over 4 weeks, with the majority lasting between 1 and 24 hours (37.5%). Motor symptoms were mainly expressed as localized weakness or paralysis (13.3%), while sensory symptoms were commonly reported as headaches (16.7%). Conclusion: In summary, the analysis found that seizures were the most frequently reported subtype among the four conversion disorder subtypes. Seizures and convulsions were the predominant symptoms of conversion disorder with localized weakness and headache. Motor symptoms mainly took the form of localized weakness, while sensory symptoms often took the form of headaches.

Short-term Efficacy and Safety of Secukinumab in Pakistani Patients with Ankylosing Spondylitis and Psoriatic Arthritis

Objective: To determine the short-term efficacy and safety of Secukinumab in Pakistani patients with ankylosing spondylitis and psoriatic arthritis in regular clinical practice.
 Study Design: Case series.
 Place and Duration of Study: Department of Rheumatology, National Hospital and Medical Centre, Lahore Pakistan from Aug 2019 to Feb 2021.
 Methodology: Patients diagnosed with ankylosing spondylitis according to assessment of spondyloarthritis International Society criteria and psoriatic arthritis according to classification criteria for psoriatic arthritis (CASPAR), who were started on Secukinumab, were enrolled. Disease activity scores and adverse events were recorded in the 12th and 24th weeks. The primary outcomes were remission and low disease activity, and the secondary outcomes were the recording of Adverse events on each visit.
 Results: There were 42 patients registered. The mean duration of disease was 11.86±7.31 years for AS and 9.19±4.87 years for PsA patients. At 24 weeks of follow-up, 10% of patients discontinued treatment, 73.7% of AS patients, and 94.7% of PsA patients achieved complete remission or low disease activity. No significant AEs were noted at 24 weeks, except for upper respiratory tract infections. One patient developed a lower respiratory tract infection after 24 weeks of treatment, and one died during treatment (possible myocardial infarction).
 Conclusion: Secukinumab was effective and safe in patients with Ankylosing Spondylitis and Psoriatic Arthritis in this study,despite advanced disease with long disease duration.Keywords: Ankylosing spondylitis, Efficacy, Psoriatic arthritis, Safety, Secukinumab.

An Analysis of the Occurrence of Bone Erosion on Computerized Tomography Scans in Allergic Fungal Rhinosinusitis

Objective: Bone erosion on a CT scan may be an indication of osteoarthritis, rheumatoid arthritis, or bone infections, among other diseases. Tumors and other bone conditions may also be to blame. A doctor would need to analyze the CT scan and maybe do other tests or imaging investigations to identify the source of bone degradation. The study's goal is to examine the prevalence and locations of bone erosion on computed tomography scans in Pakistani patients with allergic fungus rhinosinusitis. Methods: This retrospective observational study was conducted at The study was conducted in PAC Hospital Kamra, Pakistan, between January 2013 and December 2022. 85 of the patients who had bone erosions on a computed tomography scan out of a total of 230 instances of allergic fungal rhinosinusitis were included in the research. Evaluation of bone erosion in various paranasal sinuses and their sub-sites. Patients were categorized into three groups based on how much bone erosion they had: mild, moderate, and severe. Mild instances were those with erosion at a single site, moderate cases had erosion at two subsites, and severe cases had erosion at more than two subsites. Results: In 85 (36.9%) of the patients, bone erosion was discovered after a thorough analysis of the computed tomography scan of the paranasal sinuses. The average impacted age was 23.96 ± 12.71. There were 33 women and 52 men, or 61.1% of the total. The ethmoid sinus was the sinus that had bone erosions the most often. Frontal sinus 24 (16.6%), maxillary sinus 55 (38.19%), sphenoid sinus 27 (18.75%), and maxillary sinus 38 (26.38%) are listed in that order. Out of 85 patients, 15 (17.6%) had a severe illness, 22 (25.8%) had moderate disease, and 48 (56.1%) had mild disease. Implication: The radiological evaluation of illness, regardless of the method and scoring system employed, is crucial because it allows the otolaryngologist and the radiologist to stratify the severity of the disease in instances of AFRS and aids in clinical evaluation and the avoidance of problems Conclusions: Bone erosion occurs frequently in allergic fungal rhinosinusitis. The ethmoid sinus is the most frequently affected paranasal sinus in terms of bone erosion, and computerized tomography (CT) scan is a crucial and efficient inquiry in detecting these erosions. Keywords: rhinosinusitis, bone erosion, sinusitis, radiological evaluation

C.151dup variant in LAMA3 in Pakistani patients affected with Shabbir Syndrome but showing mild symptoms.

To identify genetic causes of Shabbir syndrome in two patients of Pakistani origin. In the present study, we have investigated a Pakistani family with two affected members segregating Laryngo-onycho-cutaneous (LOC) syndrome. The patients were diagnosed as suspected cases of LOC based on phenotypes including abnormal larynx, nails, and hyperpigmentation in patients' eyes. Genetic investigation was done by performing whole exome sequencing (WES) using DNA of the patients. Sanger sequencing was performed to validate WES findings and segregation analysis in the family. Data analysis of exomes and Sanger sequencing of patients revealed a homozygous one base pair duplication (NM_000227.6; LAMA3; c.151dup; p.Val51GlyfsTer4) in LAMA3 in the patients. Parents of the patients were heterozygous for the identified variant. Previously, the same variant has been found in most of the Pakistani Punjabi patients affected with LOC. Therefore, Pakistani Punjabi families affected with Shabbir Syndrome may be screened for c.151dup variant in LAMA3 using targeted sequencing. Sanger sequencing is a cost-effective and time-saving technique as compared to whole exome/genome sequencing. Hence, developing ethnicity-specific LAMA3 targeted molecular diagnostic test would be cost-effective. Further, the study would assist in carrier testing and prenatal diagnosis of the affected families.

Molecular epidemiology of potential candidate markers for chloroquine resistance in imported Plasmodium vivax malaria cases in Iran

BackgroundThe spread of Plasmodium vivax strains resistant to chloroquine (CQ) has posed a challenge to control strategies aimed at eliminating malaria. Molecular analysis of candidate resistance markers is very important for monitoring the P. vivax resistance to CQ in different endemic regions. In the present study, the multidrug resistance 1 (pvmdr1) gene, a possible marker for CQ resistance in P. vivax, was evaluated by molecular methods.MethodsA simple PCR–RFLP method was developed for mutation analysis in pvmdr1 gene. A number of 120 blood spots were obtained from patients with P. vivax mono-infection in 2021. All of the samples were collected from Pakistani patients who travelled to Iran.ResultsNone of the samples had any mutation at codon 976 of pvmdr1, while the 1076 mutation was detected in 96.2% of the examined isolates. Only two pvmdr1 haplotypes were identified, including the single mutant (Y976/1076L) as the most prevalent haplotype (with 96.2% frequency) and the wild type (Y976/F1076; with 3.8% frequency).ConclusionsIn this study, the major CQ resistance-mediating mutation and multiple mutant haplotypes of the pvmdr1 gene was not detected. However, continuous monitoring of drug resistance markers and close supervision of the efficacy of CQ is essential to detect the potential emergence of CQ-resistant P. vivax isolates in Iran. This data is important for performing future epidemiological surveillance to monitor CQ resistance in this endemic area and the bordering regions.

Current Causes and Clinical Pattern of Fixed Drug Eruption at a Tertiary Care Hospital

Objective: To identify the current common causative drugs and the clinical pattern of FDE in Pakistani patients presenting to a Tertiary Care Hospital.
 Study Design: Cross-sectional study.
 Place and Duration of Study: Department of Dermatology Combined Military Hospital, Kharian Pakistan, from Nov 2018 to Oct 2021.
 Methodology: Patients of all ages and sexes reporting in dermatology outpatient during the study period with Fixed drug eruption (FDE) were included in the study after taking informed consent. Diagnosis of FDE was based on the finding of welldemarcated erythematous patches or plaques and violaceous pigmentation. In cases where history was not suggestive, the drug was confirmed by an oral provocation test. In addition, the causative drug, site(s) affected, duration, number of skin lesions, history of FDE, and the purpose for using the drug were noted for each patient.
 Results: Sixty-one patients were included in the study. Doxycycline (thirteen patients, 21.3%) was the commonest causative drug, followed by Quinolones and Paracetamol in ten (16.4%) patients each, Cotrimoxazole in eight (13.1%) patients and Nonsteroidal anti-inflammatory drugs (NSAIDs) in seven (11.5%) patients. Multiple lesions were common in patients with a history of FDE. The disease affected single-body sites in 16(26.23%) patients only. The most common site was the genital area in forty-two (71.19%) patients, followed by upper limbs in thirty-one (52.54%) patients and lips in twenty-eight ...............
 Conclusions: Knowing the current causative drugs and carefully seeking a history of FDE may help prevent recurrent FDE.

Oral Health-Related Quality of Life in Patients with Chronic Oral Mucosal Diseases: Reliability and Validity of Urdu Version of Chronic Oral Mucosal Disease Questionnaire (COMDQ)

The aim of the study was to translate and validate the Urdu version of the Chronic Oral Mucosal Disease Questionnaire (COMDQ) and measure the oral health-related quality of life (OHRQoL) in Pakistani patients with chronic oral mucosal disease. One hundred and twenty patients with chronic oral mucosal diseases were recruited for this study. Two types of reliability of the COMDQ were tested. First, the internal consistency was calculated using Cronbach's alpha, and second, test-retest reliability was calculated using intraclass correlation coefficients (ICC). Convergent validity was assessed for testing the validity of the COMDQ by examining the correlations with the Visual Analogue Scale (VAS) and OHIP-14 using Pearson's correlations coefficient, and a t-test was used to compare the COMDQ domains and the socio-demographic characteristics. The most prevalent chronic oral mucosal disease (COMD) among the participants was recurrent aphthous stomatitis (47.5%), and the least prevalent was oral granulomatosis (6.6%). The total mean score for COMDQ was 43.5 (SD = 18.4). It showed a high level of internal consistency (Cronbach's a = 0.81), and test-retest reliability was also good (r = 0.85). The total score of COMDQ was strongly correlated with the total score of OHIP-14 and VAS (r = 0.86 and r = 0.83), which indicated good convergent validity. The score of pain and the functional limitation domain reported a significant difference with age (p < 0.021) and employment status (p < 0.034). The Urdu version of COMDQ is an accurate, valid, and reliable instrument that can be used to assess the OHRQoL in patients with chronic oral mucosal diseases in Pakistani and other Urdu-speaking populations of different age groups.

Serum MicroRNAs as Predictors for HCV Progression and Response to Treatment in Pakistani Patients.

Hepatitis is one of the common liver diseases, imposing a heavy health burden worldwide. Acute hepatitis may develop into chronic hepatitis, progressing to cirrhosis and hepatocellular carcinoma. In the present study, the expression of miRNAs was quantified by real-time PCR, such as miRNA-182, 122, 21, 150, 199, and 222. Along with the control group, HCV was divided into chronic, cirrhosis, and HCC groups. The treated group was also included after the successful treatment of HCV. Biochemical parameters, such as ALT, AST, ALP, bilirubin, viral load, and AFP (HCC), were also evaluated in all of the study groups. We compared the control and diseased groups; these parameters showed significant results (p = 0.000). The viral load was high in HCV but was not detected after treatment. miRNA-182 and miRNA-21 were overexpressed with disease progression, while the expression of miRNA-122 and miRNA-199 was increased compared with the control, but decreased in the cirrhosis stage compared with chronic and HCC. The expression of miRNA-150 was increased in all of the diseased groups compared with the control, but decreased compared with the chronic group. We compared the chronic and treated groups and then all of these miRNAs were down-regulated after treatment. These microRNAs could be used as potential biomarkers for diagnosing different stages of HCV.

Delineating the Spectrum of Genetic Variants Associated with Bardet-Biedl Syndrome in Consanguineous Pakistani Pedigrees.

This study aimed to find the molecular basis of Bardet-Biedl syndrome (BBS) in Pakistani consanguineous families. A total of 12 affected families were enrolled. Clinical investigations were performed to access the BBS-associated phenotypes. Whole exome sequencing was conducted on one affected individual from each family. The computational functional analysis predicted the variants' pathogenic effects and modeled the mutated proteins. Whole-exome sequencing revealed 9 pathogenic variants in six genes associated with BBS in 12 families. The BBS6/MKS was the most common BBS causative gene identified in five families (5/12, 41.6%), with one novel (c.1226G>A, p.Gly409Glu) and two reported variants. c.774G>A, Thr259LeuTer21 was the most frequent BBS6/MMKS allele in three families 3/5 (60%). Two variants, c.223C>T, p.Arg75Ter and a novel, c. 252delA, p.Lys85STer39 were detected in the BBS9 gene. A novel 8bp deletion c.387_394delAAATAAAA, p. Asn130GlyfsTer3 was found in BBS3 gene. Three known variants were detected in the BBS1, BBS2, and BBS7 genes. Identification of novel likely pathogenic variants in three genes reaffirms the allelic and genetic heterogeneity of BBS in Pakistani patients. The clinical differences among patients carrying the same pathogenic variant may be due to other factors influencing the phenotype, including variants in other modifier genes.

Overexpression of Hypoxia-Inducible Factor-1α and Its Relation with Aggressiveness and Grade of Oral Squamous Cell Carcinoma.

Hypoxia-inducible factor-1α (HIF-1α) has been shown to be involved in cancer metastasis in several cancer types. There is however conflicting evidence of HIF-1α expression with oral cancer prognosis. Therefore, this study set out to investigate HIF-1α overexpression and its relationship with the aggressiveness and grade of oral squamous cell carcinoma (OSCC) and to explore the diagnostic potential of HIF-1α overexpression in OSCC in a cohort of Pakistani patients. Immunostaining of HIF-1α was performed on 54 OSCC and 14 normal oral mucosa (NOM) tissue samples and various cut-offs were used to evaluate its immunohistochemical expression. HIF-1α expression in OSCC samples was significantly higher than in controls, with minimal immunoreactivity in NOM. HIF-1α overexpression was significantly associated with increased tumor size (p = 0.046). However, no association was found between HIF-1α overexpression and increasing Broder's histological grade or TNM stage. The cut-off >10% cells with moderate to marked intensity carried a sensitivity of 70% and a specificity of 100% to distinguish between tumor and control. ROC curve analysis of HIF-1α weighted histoscores showedHIF-1α overexpression as a highly sensitive and specific diagnostic test (p < 0.001, AUC = 0.833). HIF-1α overexpression is a tumor-specific finding associated with increased tumor size and carries a potential diagnostic role.

Delta virus predominates and potentially predicts liver cirrhosis among co-infected hepatitis b and hepatitis d virus patients in pakistan

Background: High prevalence of Hepatitis Delta virus (HDV) has been reported from some pockets in Pakistan. Typically, Hepatitis B (HBV) and HDV co-infection could cause severe hepatitis leading to cirrhosis at an early age. We aim to study the clinical outcomes of HBV/HDV co-infection compared to HBV mono-infection in a Punjabi, Pakistani population. Methods: The retrospective data on all HBV positive patients was extracted from Hepatitis Prevention and Treatment Program (HPTP) of Pakistan Kidney and Liver Institute in Punjab, Pakistan. Majority (32/50) of the HBV/HDV co-infection were identified from Rajanpur clinic of HPTP. Pre-treatment liver tests, HBV-DNA viral load, HDV-RNA viral load; AST to Platelet ratio (APRI) and Fibrosis-4 (Fib-4) were calculated from standard equations. Cirrhosis was based on APRI (≥1.5) or/and Fib4 (≥1.45). HBV-DNA level ≤ 2,000 IU and ≥20,000 IU were categorized as low and high viral load respectively. Results: 57 (53%) patients were HBV mono-infected and 50 (47%) were co-infected with HDV. Mean age was 36.2±12.99 in the entire cohort and was not different between the two groups. Older age correlated to a higher APRI and Fib-4 scores in both groups. The two groups were predominantly male, 75% in HBV and 76% HBV/HDV co-infected patients. Sharing of toothbrushes was reported to be significantly higher by HBV mono-infected patients; p 0.005. Other risk factors were equally prevalent. 78% of HBV mono-infected and 79% HBV/HDV co-infected patients had ≤ 20,000 IU/ml HBV-DNA. While 56% and 44% had ≤ 2,000 IU/ml HBV DNA levels respectively. APRI and Fib-4 scores were significantly higher in HBV/HDV coinfected; p 0.01. The cirrhosis was diagnosed in 29 patients in HBV/HDV co-infected group, while no patient had cirrhosis in HBV mono-infected group. Within HBV/HDV co-infected group, mean HDV-viral load was significantly higher compared to HBV viral load; p 0.05. Mean HBV-DNA and HDV RNA levels in non-cirrhotics were 326411 and 35358369; and in cirrhotics 3340429 and 31867418 IU/ ml, respectively. 4 patients had undetectable HBV viral load and one of them had cirrhosis. 10 patients were cirrhotics with ≤ 2,000 IU/ml of HBV-DNA. The mean HDV RNA level in these 10 patients was 63, 000000 IU/ml. Mean HDV viral load was one log higher in patients with ≤20,000 IU/ml HBV-DNA compared to those with ≥ 20,000 IU/ml HBV-DNA viral load. Conclusion: Overall mode of transmission of HBV and HBV/HDV infections are similar in Punjab. More patients had higher liver fibrosis scores in HDV/HBV co-infected groups. The significantly low level of HBV, in the co-infected population especially cirrhotic patients indicates that liver disease is driven by HDV rather than HBV infection among co-infected Pakistani patients and Peg-interferon alone might be the best treatment option for them.

Histopathological Characteristics and Prognosis of Malignant Acral Melanomas in Pakistani Patients.

Background Malignant melanoma is a common cancer in Scandanavian countries due to increased exposure to ultraviolet light. Very limited data is available on malignant melanomas in Pakistani population and further studies are needed to determine its incidence in our population. Objective The main objective of our study was to determine histopathological characteristics and prognosis of malignant foot melanomas in Pakistani patients. Material and methods After approval by the Institutional Review Board, we performed a retrospective study of59 consecutive cases of malignantacral melanomafrom the year 2016-2019. The follow-up of in-house cases was available in hospital archives. The follow-up of diagnostic patients was done through direct communication. The histological features were assessed, and the prognosis was determined in terms of recurrence, metastasis, and death. Results The main histological features assessed were Breslow thickness <1 (n=3), >1-2 (n=9), >2-4 (n=12), >4 (n=36), ulceration was present in 65% (n=39), and pathological stage 1 (n=3), stage 2 (n=9), stage 3 (n=12) and stage 4 (n=36). The margin was involved in 28.3% (n=17) cases. Recurrence was observed in 47.4% (n=28), metastasis in 55.9 % (n=33), and death was observed in 49.1% (n=29). The mean follow-up duration of 3.4 years ± 0.20 (Range 3 to 6 years). The recurrence-free survival was 2.9 ± 0.24 years, metastasis-free survival was 2.8 ± 0.237 years, and disease-specific survival was 3.4 ± 0.203 years. Conclusion Malignant acral melanoma is fatal with high mortality rates. In our part of the world, acral melanoma has poor prognosis compared to non-acral melanomas. When compared with acral melanomas in other parts of the worldprognosis is even worst. Early diagnosis and treatment are crucial in terms of patientmanagement.

Glanzmann Thrombasthenia in Pakistani Patients: Identification of 7 Novel Pathogenic Variants in the Fibrinogen Receptor αIIbβ3

Glanzmann thrombasthenia (GT) is a rare autosomal recessive inherited platelet disorder occurring frequently in populations with high incidence of consanguineous marriages. GT is characterized by quantitative and/or qualitative defect of the platelet αIIbβ3 (GPIIb/IIIa) receptor caused by pathogenic variants of the encoding genes: ITGA2B and ITGB3. Patients present with a moderate to severe bleeding tendency with normal platelet count. Platelets show reduced/absent aggregation for all agonists except ristocetin in light transmission aggregometry and reduced/absent αIIbβ3 expression in flow cytometry (FC). In this study, we investigated a cohort of 20 Pakistani patients and 2 families collected from the National Institute of Blood Disease, Karachi and Chughtai's Lab, Lahore. Platelet aggregation studies, FC (platelet CD41, CD61, CD42a, CD42b) and direct sequencing of the candidate genes were performed. All patients showed altered platelet aggregation, but normal agglutination after stimulation with ristocetin. Absent/reduced αIIbβ3 receptor expression was present in the platelets of 16 patients, in 4 patients expression was borderline/normal. Candidate gene sequencing identified pathogenic/likely pathogenic variants in 15 patients. Seven variants are novel. One patient with absent receptor expression remained without genetic finding. 13 (86.7%) of 15 patients stated consanguinity reflected by homozygosity finding in 14 (93.3%) patients.

Exploring the Associations and Molecular Impacts of miR-146a/rs2910164 and miR-196a2/rs185070757 with Rheumatoid Arthritis in a Pakistani Population

Introduction: MicroRNAs (miRNAs) are a new class of molecules that participate in post-transcriptional regulation of gene expression and hence have been reported to have a crucial role in the pathogenesis of rheumatoid arthritis (RA). We aimed to investigate the association of miR-146a rs2910164 (G/C) and miR-196a2 rs185070757 (T/G) with RA susceptibility in Pakistani patients and to bioinformatically predict the molecular function of these miRNAs. Methods: A case-control study on 600 individuals was conducted, including 300 RA patients and 300 matching healthy controls. Genotyping was performed by tetra-primer amplification of refractory mutation system-polymerase chain reaction, and the association between variants and RA was statistically determined using different models. Results: For the variant rs2910164 (G/C) in miR-146a, no difference in genotype distribution was observed between RA cases and controls, as determined using co-dominant (χ² = 4.33; p = 0.114), homozygous dominant (C/C vs. G/G + C/G) (OR = 0.740 [0.531–1.032]; p = 0.091), homozygous recessive (G/G vs. C/C + G/C) (odds ratio [OR] = 01.432 [0.930–2.206]; p = 0.126), heterozygous (G/C vs. C/C + G/G) (OR = 1.084 [0.786–1.494]; p = 0.682), and additive (OR 0.778 [0.617–0.981]; p = 0.039) models. Similarly, the GT genotype in the rs185070757 (T/G) miR-196a2 variant did not differ between cases and controls with any models (p > 0.05). For the first time, we report no association of miR-146a rs2910164 (G/C) and miR-196a2 rs185070757 (T/G) with RA in a Pakistani population. A subsequent bioinformatic analysis revealed that the CC genotype of miR-146a rs2910164 might have a protective role against RA pathogenesis, with no effect observed with the miR-196a2 rs185070757. Conclusion: Our findings suggest that these miRNAs might have little-to-no impact on the RA pathogenesis in the Pakistani population.

The approach of Pakistani dentists and patients toward tooth bleaching procedure

The approach of Pakistani dentists and patients toward tooth bleaching procedure

Association of Genetic Variants rs1888747 and rs10868025 of FRMD3 Gene with Diabetic Nephropathy in Pakistani Patients

Background: Diabetic Nephropathy is also known as diabetic kidney disease. The major cause of diabetic nephropathy is diabetes Many candidate genes and genome-wide association studies have proved that gene FRMD3 is highly associated with diabetic nephropathy. Aim of the study: This study aimed to investigate the association of rs1888746 and rs1888747 with diabetic nephropathy in our local population of Pakistan. Research Design: For this study, we enrolled 50 physician-diagnosed patients and 25 healthy control from the young population. Genomic DNA was extracted by organic method and visualized on Agarose gel. Methodology: Monoplex PCR, real-time PCR, genotyping via high-resolution melting curve analysis,and SPSS software were used to accomplish the research work. Results: Our study found that variant rs1888746 shows an insignificant association with (p&lt;0.0982) and rs188747 shows a significant association with (p&lt;0.0498), but results need to be confirmed on a larger scale. Conclusion: The results concluded that our selected rs1888747 on FRMD3 gene shows the allelic association with diabetic nephropathy in Pakistani local population whereas r1888746 did not. Keywords: Genome Wide Association Studies, Diabetic Nephropathy, Genomic DNA, FRMD3 gene

Diagnostic Accuracy of High-Resolution Ultrasound in Clinically Suspected Pakistani Patients with Plantar Fasciitis

Diagnostic Accuracy of High-Resolution Ultrasound in Clinically Suspected Pakistani Patients with Plantar Fasciitis

Prediction of the Outcome of Pakistani Heart Failure Patients by Various Supervised Machine Learning Methods

Aim: To foresee the outcome of heart failure(HF) in Pakistani patients with potential predictors and through various machine learning (ML) methods. Study design:The secondary data of Pakistani patients is taken from the UCI repository in which a cross-sectional, analytical study was planned. Place and duration: This data was collected in April-December, 2015 at the Institute of Cardiology and Allied hospital Faisalabad-Pakistan. Methodology: The data set consisted of299 patients distributed among male (194) and female patients (105). Ages, serum sodium (SS), serum creatinine (SC), gender, smoking, high blood pressure (HBP), ejection fraction (EF), anemia, platelets, Creatinine Phosphokinase (CPK), and diabetes were considered as the potential predictors for predicting the outcome of HF.The data set was analyzed with the help of various machine learning (ML) predictive models including Logistic regression (LR), K-nearest neighbor (KNN), and Decision trees (DT). Results: The ages of the patients were within 60.833±11.894 years. Out of 299 patients, 129 were anemic, 105 had high blood pressure (HBP), and 96 had a smoking history. A statistical model was estimated by applying LR which assisted us in identifying the significant predictors. The sensitivity of the LRwas observed to be 92.1%, whereas 85.6% of the outcome of HF patients was correctly predicted by this model (LR) and DT achieved89.6% prediction accuracy. Conclusion:Since HF is a substantial reason for deaths in Pakistan. Therefore, the identification of its potential risk factors and its accurate prediction by some modern tools are highly demanded. This study applied ML tools for the said task and concluded that among all the fitted ML models, DT predicted the correct outcome for HF patients proficiently. Keywords: Heart failure, machine learning, logistic regression, k-nearest neighbor, decision trees

Protective and pathogenic role of collagen subtypes genes COL4A3 and COL4A4 polymorphisms in the onset of keratoconus in South-Asian Pakistani cohort

Collagen sub-types have an important role in corneal structure and are reported to be an important genetic predictor for keratoconus (KC) development, therefore we assessed the association of collagen subtypes by screening non-synonymous polymorphisms of COL4A3 and COL4A4 in South-Asian (Pakistani) patients. MethodsA total of 257 KC sporadic cases, gender and ethnicity matched 253 control individuals were screened for three non-synonymous single nucleotide polymorphisms (SNPs) rs55703767and rs10178458 in COL4A3 and rs2229814 and one synonymous SNP rs2228555 in COL4A4. The genotyping was done by Competitive Allele specific polymerase chain reaction (PCR) and the data were analyzed statistically. ResultsAmong the studied SNPs, the COL4A3 rs55703767 GT genotype (dominant model (DM): odds ratio (OR) = 0.243, (95 %CI) = 0.16–0.36, p=>0.0001), and allele-G (OR = 0.35, 95 %CI = 0.26–0.48, p < 0.000)), showed protective association against KC development. While COL4A3 rs10178458 CT genotype (DM: OR = 2.11(95 %CI = 1.16–3.85), COL4A4 rs2229814 TT genotype (RM: OR = 147.778(95 %CI = 20.401–1070.439), (p > 0.05) and allele-T (OR = 2.351(95 %CI = 1.826–3.028), (p > 0.05); COL4A4 rs2228555 AG genotype (DM: OR = 2.370(95 %CI = 1.594–3.524) (<0.0001) and GG genotype (RM: OR = 2.347(95 %CI = 1.587–3.472), (p < 0.0001); and allele-G (OR = 2.024(95 %CI = 1.577–2.597), (p > 0.0001) were observed to be disease associated. ConclusionCOL4A3 rs10178458 and COL4A4 SNPs rs2229814 and rs2228555 were found to be pathogenic for KC, whereas COL4A3 rs55703767 was found to play a protective role against KC development in South-Asian (Pakistani) Cohort.

Prevalence of Complications Associated with Diabetes among Pakistani Patients: A Questionnaire-based Survey.

The rate of mortality is increasing in diabetic patients due to diabetes-associated complications. The common complications include neuropathy, nephropathy, retinopathy, foot ulcer, slow wound healing, kidney dysfunction, amputation, dysfunction of organs, frequent infections, sepsis, skin diseases, hearing impairment, cardiovascular disorders, etc. These complications can be diagnosed following some common symptoms such as increased thirst, frequent urination, extreme hunger, unexplained weight loss, fatigue, irritability, blurred vision, slow-healing sores, etc. This survey was designed to study the prevalence of various complications in a group of diabetic patients so that effective treatment options could be developed against the most prevalent complications. This cross-sectional study was conducted in 2019 in a tertiary care hospital of Karachi after the approval of the ethical committee of the hospital as well as in the University of Karachi. To perform this study, a questionnaire was designed comprised of different questions related to diabetic complications. The consent form was attached to each questionnaire in which the patient agreed to participate voluntarily in this survey. The diabetic patients who visited the General Physician OPD were the subjects of this survey. All designed questions included in the questionnaire were asked either directly from the patients or their attendants. A total of 160 diabetic subjects were part of the study range between the ages of 11 to 90 years. Out of 160 patients, 52 were males, and 108 were females. Among all subjects, 124 (78 %) patients were type 2 while 57 (36 %) were type 1 diabetic patients. 117 (73 %) showed confusion of mind, 104 (65 %) complained of blood pressure, 105 (66 %) had hypertension, 106 (66 %) had eye damage (retinopathy), 96 (60 %) were facing trouble focusing vision, and 70 (44 %) were experiencing seizures, 63 (39 %) patients had laser treatment, 68 (43 %) showed wounds on foot and slow wounds healing, 49 (31 %) were having kidney damage (nephropathy), 79 (49 %) had pain in legs or knee, 35 (22 %) and 26 (16 %) complained of heart problems and liver damage respectively. Some patients were found to deal with more hunger, i.e., 99 (62 %) patients, 118 (74 %) were experiencing frequent urine desire, 138 (86 %) showed fatigue, 123 (77 %) complained of thirst, 35 (22 %) had nausea, 30 (19 %) had a frequent cold, 36 (23 %) had skin problems, 17 (11 %) patients showed frequent vomiting, 19 (12 %), 13 (8 %) and 16 (10 %) were experiencing acne formation, stroke and nerve damage (neuropathy) respectively. All age groups showed diabetes-associated complications and different abnormal body conditions. However, the age groups ranging from thirty to eighty years showed more complications. The most prevalent complications reported were retinopathy, nephropathy, diabetic wounds on the foot, slow wound healing, seizures, hypertension, neuropathy, skin infections, cardiovascular disorders, liver damage, and stroke in both types of diabetic patients. Our survey may aid in pointing out the most prevalent diabetic complications prevailing in our population so that effective treatment options could be developed to reduce these life-threatening complications.