Two years experience of analytical and diagnostic challenges in urine organic acid analysis on gas chromatography-mass spectrometry

Objective: To evaluate the analytical and diagnostic challenges in interpreting the various organic acid results by gas-chromatography-mass spectrometry and to devise a protocol for analysis that is beneficial for prompt interpretation and diagnosis

Study Design: Retrospective study

Place and Duration of Study: Department of Chemical Pathology and Endocrinology, Armed Forces Institute of Pathology, Rawalpindi, from Apr 2015 to May 2017

Material and Methods: We reviewed clinical data, biochemical investigations and urine organic acid profiles of 110 patients received for evaluation of a suspected organic acid disorder. Urine organic acid analysis was carried out by gas chromatography - mass spectrometry using Mass Hunter software

Results: A total of 104 [99 percent] cases received were from the pediatric patients and 7 [6.3 percent] from adult patients. A total of 11 different organic acidurias were diagnosed. Other diseases [n=10] were also detected on the basis of their pathognomics metabolites and included tyrosinemia type 1 [n=4], alkaptonuria [n=5] and ornithine transcarbamoylase deficiency [n=1]. Twenty eight [25 percent] urine samples were either recalled or repeated for reasons like random urine sample yielding negative profiles in setting of a strong suspicion for organic aciduria [n=6], non-availability of clinical data [n=12] or delay in transportation >8 hours [n=10]. Raised non-specific organic acid metabolites were seen in 23 [21 percent] cases. Lactic acid and ketones were detectable in 12 [11 percent] samples in the absence of raised plasma levels

Conclusion: Urine OA profiles must be interpreted in context of complete clinical, nutritional and biochemical findings. Each laboratory equipped with this facility should devise their analytical protocols for meaningful interpretation of results

prospective, split-face, randomized, open-label study comparing efficacy of trichloroacetic acid [100%] and cryotherapy in xanthelasma palpebrarum

Objective To compare the clinical efficacy of trichloroacetic acid [TCA] 100% and cryotherapy in xanthelasma palpebrarum [XP]

Methods 40 patients fulfilling the inclusion criteria were treated with cryotherapy on right eye [group A] and TCA on left eye [group B]. Patients were followed up for 6 weeks and final outcome variable of efficacy i.e. complete resolution of xanthelasma was assessed at 6 weeks. Adverse side effects of therapy were also recorded as secondary outcome variables. Data were analyzed by SPSS 19.0

Results Mean age of patients was 43.75 +/- 5.90 years and age ranged from 34 to 56 years. Out of 40 patients 9 [22.5%] were male and 40 [77.5%] were female. Complete resolution of xanthelasma was seen in only 7 [17.5%] in group A, while complete resolution of lesions was seen in 30 [75%] of patients in group B [p = 0.000]

Conclusion A single session of 100% TCA is highly effective than cryotherapy in the treatment of Xanthelasma palpebrarum

Auricular angiolymphoid hyperplasia with eosinophilia

Angiolymphoid hyperplasia with eosinophilia is an uncommon, benign, angioproliferative cutaneous disorder. Previously, angiolymphoid hyperplasia with eosinophilia and Kimura's disease were regarded as identical conditions, however, recent work identifies them as separate entities. It is clinically manifested by solitary or multiple, red to brown firm papules and nodules, occurring in the head and neck region with a predilection for the peri-auricular area. It usually occurs during the early and mid-adult life. It is more common in Caucasians with equal gender involvement. We report this condition in a 32 years old adult Pakistani male having red-brown papules in left ear