Clinical profile in arrhythmogenic cardiomyopathy and a recessive plakophilin-2 gene mutation

Objective Arrhythmogenic cardiomyopathy (ACM) is not an uncommon cause of cardiac morbidity in Kashmir valley. This study was designed to document various clinical features and to sequence exons 11 and 12 of plakophilin 2 (PKP2) gene in these patients. Methods ACM patients who attended cardiology outpatient department of our institute from January 2014 to April 2015 were included in the study. Their records were reviewed. Controls were randomly selected, who had no history or family history of cardiac illness and had a normal cardiac examination. A blood sample was also taken from both the groups for sequencing of exon 11 and 12 of PKP2 gene. ACM patients were followed up until July 2016. Results Eleven ACM patients and seven controls were included in the study. Most common mode of presentation was ventricular tachycardia (VT). Two patients had left ventricular (LV) systolic dysfunction. One patient had a splice site mutation in exon 12 of PKP2 gene and one patient died during follow-up. One of the controls had an intronic variation that has no pathogenic significance vis-à-vis ACM. Conclusion Our study describes various clinical parameters in ACM patients and a recessive plakophilin 2 mutation after a limited PKP2 gene sequencing.

Role of ultrasound and intravenous urography in patients with renal colic

To determine the accuracy of Ultrasound along with x-ray KUB and IVU in detecting renal / ureteric calculi in patients with renal colic. Validation study Department of Radiology POF Hospital Wah cantt from 15-06-09 to 15-12-09. One hundred and eleven consecutive patients with clinically suspected urinary tract calculi were selected for study. At first they underwent sonography along with x-ray KUB and then IVU. We evaluated the sensitivity, specificity, negative /positive predictive values and accuracy of US X-ray KUB combination and IVU for detecting renal / ureteric calculi while final diagnosis [gold standard] obtained from the results of clinical course/urological procedures. Out of 111 consecutive patients 46 [41%] were normal and 65 [59%] patients had KUB calculi. US along with x-ray KUB detected 59 patients and missed 6 patients and likewise IVU detected 61 patients out of 65 patients. Sensitivity, specificity, and accuracy of both these modalities are almost similar with IVU having slightly upper edge. IVU remains an important investigation in the assessment of calculus and other causes of urinary tract obstruction. Ultrasound in combination with x-ray KUB is an excellent modality having almost similar diagnostic capability as IVU in detecting KUB calculi along with many more significant advantages, as it has less radiation dose, relatively inexpensive, universally available, easily applicable and high diagnostic efficacy

Role of ultrasound in early detection of cirrhosis liver

To determine the accuracy of three ultrasonographic signs that are liver surface nodularity, caudate lobe hypertrophy and hepatic vein flow pattern on Doppler ultrasound in detecting severe liver fibrosis in chronic liver disease. Validation study. Department of Radiology PNS Shifa, Karachi. Duration of the study was 6 months, September 2005 to March 2006. This study included 50 patients of both sexes from 30 - 60 years of age who presented with chronic liver disease in Department of Radiology PNS Shifa, Karachi. TOSHIBA [NEMIO 20] Doppler Ultrasound Machine with 3.5 and 5MHz probes was used to look for liver surface nodularity, caudate lobe hypertrophy and pattern of hepatic vein flow. After performing ultrasound, patients were sent for liver biopsy to compare the results with histopathological findings taken as gold standard. On ultrasound the sensitivity, specificty, positive predictive value, negative predictive value and accuracy were highest for liver surface nodularity in detecting severe liver fibrosis. Ultrasound determination of liver surface nodularity is a significantly accurate method for identifying severe liver fibrosis or cirrhosis

Role of ultrasound in rotator cuff injury

To determine the role of ultrasound [US] in Rotator cuff pathologies and to correlate the accuracy of Ultrasonography [USG] findings in rotator cuff pathologies with b Magnetic Resonance Imaging. It was a Descriptive study. Study was conducted in Department of Radiology, PNS Shifa Karachi, where Grey Scale as well as Color Doppler USG and Fluoroscopy was available. However the facilities of MRI were utilized from other Radiology departments in Karachi; namely, National Medical Centre [NMC], Advanced Radiology Clinic [ARC] and Agha Khan University Hospital [AKUH] on referral basis. The study involved 50 patients of both sexes between 15-60 years of age who presented with shoulder pain and stiffness, in out-patient departments or admitted in surgical/orthopedic wards. They were referred to the Radiology department PNS Shifa for X-Rays and US shoulder. All of them were followed by Magnetic Resonance Imaging. Patients were 32 males and 18 females of more than 15 years of age. Rotator cuff tears were suggested on US by finding thinning or absence of cuff, by hyper or hypo echoic areas in cuff and by criteria of the abnormal cuff-bursa interface. Out of 50 patients 35 patients were diagnosed on US, as having rotator cuff tears while 15 patients were reported normal. 21 out of 35 patients were having full thickness tear while 14 had partial thickness tears. When MRI was conducted in these patients, it showed 39 rotator cuff tears out of 50 patients while 11 patient

ere diagnosed as normal. 26 out of 39 patients were having full thickness tears while 13 had partial thickness tears. Ultrasound had high sensitivity, specificity, positive predictive values and accuracy. We conclude that MRI and US are both sensitive in detection of abnormalities of the rotator cuff. In our set up; Ultrasound is an accurate, non invasive and economic mode of investigation for diagnosing rotator cuff pathologies

Ultrasonograpny; diagnostic role of in acute abdomen [nongynaecological causes]

[1] To determine the role of ultrasonography as the primary imaging modality in patients of acute abdomen. [2] To evaluate the sensitivity, specificity, positive and negative predictive value of ultrasonography in acute abdomen. A hospital based descriptive study. In Combined Military Hospital Lahore which is a tertiary care hospital. From 1[st] Jan 2003 to 30 Dec 2003. A total of 100 consecutive patients of acute abdomen were selected for the study. There were 61 male patients and 39 female patients. The patients' age ranged from 02 years to 70 years. Ultrasonography was done using ALOKA SSD-5500 machine with high resolution probes. During my study of patients of acute abdomen most common conditions encountered were renal colic due to renal and ureteric stones followed by gut perforation, cholecystitis, appendicitis and cholelithiasis. My study revealed a sensitivity of 79.7% and specificity of 88.4% of ultrasonography in patients with acute abdomen. The positive predictive value was 95.1% and a negative predictive value was 60.5%. Ultrasonography helped in prompt decision making in most of the cases of acute abdomen with a high sensitivity and specificity in skilled and experienced hands, as well as high positive predictive value. Hence, in our setup it can be used as a primary imaging modality for patients presenting with acute abdomen in any age group, as it is readily available, cost effective and free of any radiation hazards. Ultrasonography not only helps in diagnosing the cause of pain but also ruling out other possibilities

Accuracy of ultrasonography in detection of severe liver fibrosis/cirrhosis in chronic liver disease

To determine the accuracy of three ultrasonographic [US] signs; liver surface nodularity, caudate lobe hypertrophy and hepatic vein flow pattern on Doppler ultrasound, in detecting severe liver fibrosis in chronic liver disease. Descriptive study. Department of Diagnostic Radiology, PNS Shifa Karachi. Duration of the study was 6 months -SEPTEMBER 2005 TO MARCH 2006. The study included 50 patients of both sexes [20-60 yrs], presenting with chronic liver disease to department of Ultrasound. TOSHIBA [NEMIO- 20] Doppler Ultrasound Machine with Doppler 3.5 and 5.0MHz probes was used to look for liver surface nodularity, caudate lobe hypertrophy and pattern of hepatic vein flow. After performing US, liver biopsy on these patients was performed under US guidance and sent for histopathology findings; taken as gold standard. On US, the sensitivity, specificity, positive predictive value, negative predictive value and accuracy were highest for liver surface nodularity in detecting severe liver fibrosis. However, the above-mentioned values were relatively higher when the three ultrasound signs were collectively considered; compared to single US sign. US determination of liver surface nodularity is a significantly accurate method for identifying severe liver fibrosis or cirrhosis. The accuracy of ultrasound further increases when hepatic vein flow pattern and caudate lobe hypertrophy are also taken into account

Correlation of radiological findings with histological cell types in bronchial carcinoma

The purpose of this study is to correlate different Radiological findings of bronchial carcinoma with histological cell types using conventional radiography and CT scan [computerized tomography] and to develop sensitivity and positive predictive values for CXR [chest radiography] and CT scan findings for detecting bronchial carcinoma on basis of cell types. The study was carried out in Department of Radiology CMH Lahore. This study involved 33 consecutive patients of either sex aging between 35 - 85 years with pathologically proven bronchial carcinoma. There are four major cell types of bronchial carcinoma: adenocarcinoma, squamous cell carcinoma, undifferentiated large cell carcinoma, and small cell carcinoma. Adenocarcinoma and undifferentiated large cell carcinoma are generally peripheral lesions manifesting as solitary nodules or masses, whereas squamous cell carcinoma and small cell carcinoma are typically central and may manifest as hilar masses, atelectasis, or pneumonia. The study also showed that CXR and CT findings when combined show increased sensitivity and positive predictive values for detecting bronchial carcinoma as compared to CXR findings alone