Demographic profile and clinical picture of patients presented with Paraphenylene Diamine (PPD)/ Kala Pathar poisoning at a District Teaching Hospital.

OBJECTIVES: To document demographic profile, clinical features and management of patients presented with PPD/Kala Pathar poisoning at District Teaching Hospital Sahiwal, Pakistan. METHODS: This cross-sectional study utilized data for cases of PPD poisoning presented at study place from 1st July 2019 to 30th June 2020. Relevant information was recorded on a proforma. RESULTS: A total of 111 cases were included in study. Mean age was 23.01 ± 7.24 years. Majority of cases were observed in females (82%) and majority presented from rural areas (87.4%). Cervico-facial edema (78.4%) and respiratory distress (66.7%) were the most common findings. Evidence of some level of organ damage was recorded in following manner: kidneys (44.1%), musculoskeletal (50.5%) and cardiac (45.9%). Tracheostomy was carried out in 47.7% cases and dialysis in 11.7% cases. All cases ingested PPD in raw form. Mortality rate was 50.5%. CONCLUSION: PPD poisoning is associated with high rate of morbidity and mortality. Effective clinical management requires multidisciplinary approach. Measures to restrict access to this means of suicide are urgently needed. We need to set up a surveillance system for cases of attempted suicide.

Conservative Management of Thyroid Eye Disease.

The aim of the study was to determine the result of conservative management of Graves ophthalmopathy in a multi-disciplinary setting by a team of ophthalmologists and endocrinologists. Twenty-seven patients of thyroid eye disease were included in the study who underwent complete ocular examination and complete thyroid biochemical profile. Each patient was advised lubrication with artificial tears, cool compresses, sleeping with elevated head at bed, taping of the eyelids while sleeping and avoidance of smoking. Follow-ups were done at one and six months. EUGOGO classification was used to classify severity of the disease in mild, moderate, severe, and very severe; whereas, clinical activity score (CAS) was implied to categorise the disease activity. Mild to moderate Graves ophthalmopathy responded very well to conservative management. Moderate cases required additional steroids. Whereas, severe and very severe cases require additional surgical intervention. Key Words: Graves ophthalmology, Conservative management, Lubrication, Multidisciplinary approach.

CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa.

Autosomal-recessive inheritance is believed to be relatively common in mental retardation (MR), although only four genes for nonsyndromic autosomal-recessive mental retardation (ARMR) have been reported. In this study, we ascertained a consanguineous Pakistani family with ARMR in four living individuals from three branches of the family, plus an additional affected individual later identified as a phenocopy. Retinitis pigmentosa was present in affected individuals, but no other features suggestive of a syndromic form of MR were found. We used Affymetrix 500K microarrays to perform homozygosity mapping and identified a homozygous and haploidentical region of 11.2 Mb on chromosome 4p15.33-p15.2. Linkage analysis across this region produced a maximum two-point LOD score of 3.59. We sequenced genes within the critical region and identified a homozygous splice-site mutation segregating in the family, within a coiled-coil and C2 domain-containing gene, CC2D2A. This mutation leads to the skipping of exon 19, resulting in a frameshift and a truncated protein lacking the C2 domain. Conservation analysis for CC2D2A suggests a functional domain near the C terminus as well as the C2 domain. Preliminary functional studies of CC2D2A suggest a possible role in Ca(2+)-dependent signal transduction. Identifying the function of CC2D2A, and a possible common pathway with CC2D1A, in correct neuronal development and functioning may help identify possible therapeutic targets for MR.