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1.
JCPSP-Journal of the College of Physicians and Surgeons Pakistan. 2017; 27 (11): 722-724
in English | IMEMR | ID: emr-191328

ABSTRACT

Delta-beta-thalassaemia [macron beta-thalassaemia] is a rare type of thalassaemia which mostly results from deletion of macron and beta genes with preservation of gamma genes. Macron beta-thalassaemia is classified into [macron beta]+ and [macron beta] 0 types. The [macron beta] 0-thalassemia is further divided into G gamma A gamma [macron beta] 0-thalassaemia and G gamma [A gamma macron beta] 0-thalassaemia. In heterozygous state, [macronbeta] 0 mutations give rise to phenotype resembling beta-thalassaemia trait but with raised Hb-F, ranging from 5 to 20%, without a rise in Hb-A2. In homozygotes, the clinical picture is usually that of thalassaemia intermedia and the patients have 100% Hb-F. Workup of a 1-year child suffering from pallor, chronic ill health, and splenomegaly referred to our laboratory with the suspicion of beta-thalassaemia, ultimately resulted in a diagnosis on polymerase chain reaction as having homozygous inversion/deletion G gamma [A gamma macron beta] 0-thalassaemia. Her family members were also investigated

2.
PAFMJ-Pakistan Armed Forces Medical Journal. 2017; 67 (6): 962-965
in English | IMEMR | ID: emr-193394

ABSTRACT

Objective: To determine the role of urinalysis in patients undergoing CT KUB [kidney, ureter, bladder] for acute renal pain


Study Design: Descriptive cross sectional validation study


Place and Duration of Study: Study was conducted at PAF hospital Islamabad, from Aug 2014 to Sep 2015


Material and Methods: A total of 93 patients coming to the radiology department of Pakistan Air Force [PAF] hospital for assessment of acute flank pain underwent CT KUB [Kidneys, ureter and bladder] and urine routine examination [RE]. Urinalysis was considered abnormal if it contained pus cells greater than five per high field or red blood cells, or both. Result of CT KUB was compared with urinalysis to find out if the latter could be used to predict presence or absence of urolithiasis. Frequency of abnormal urinalysis was calculated for site and size of calculus detected on CT KUB for selection for CT while those with normal urinalysis could be evaluated by ultrasound only


Results: Urinalysis was identified as an invalid indicator for renal tract calculi in patients with acute flank pain. Abnormal Urine RE was mostly associated with lower tract urinary calculi and with smaller calculi than larger ones


Conclusion: Urinalysis was identified as an invalid indicator for urolithiaisis in patients having acute renal pain. In patient with urolithiasis, abnormal urinalysis was more frequently seen when the calculus was smaller and moreover was impacted in the lower urinary tract

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