Congenital anonychia totalis: a rare occurrence in a Pakistani family

Anonychia totalis is a rare disease characterized by complete absence of finger and toe nails. Possible associations include anomalies of bones, teeth, skull, hair, skin and sweat glands besides hearing and intelligence impairments. We report here a 60-year-old woman with low back pain and tenderness at the lumbosacral spine who was found to have complete absence of all nails, abnormal teeth, dry skin and left ectropion. She was educated about the disease and managed for the backache on rehabilitation guidelines. Gene mapping of her whole family was planned, but she was lost to follow up. This case provides evidence of the presence of this condition in Pakistani population. There is a need for further investigation and pooling of cases to build clinical data about phenotypes and the inheritance patterns of this disorder in our population

In vitro Investigation of thrombolytic, membrane stabilizing, antidiarrhoeal and antimicrobial activity of aerial parts of Truimfetta pilosa

Background: the main purpose of this study was to determine pharmacological potential of the medicinal plant leaves of Truimfetta pilosa through biological work in vitro and vivo

Material and methods: the crude ethanolic extract [EE] of T. pilosa leaves were partitioned successively using different solvent of increasing polarity such as, ethyl acetate, petrolum ether, carbon tetrachloride, n-hexane and chloroform. partitioned fractions were represented as ESF, PSF, CTSF, HXSF, CSF, AQSF, respectively. Then these fractios were then investigated for qualitative and quantitative phytochemical screening by specific standard procedure. The leaves of T. pisola extract and its fractions were evaluated for their possible thrombolytic, membrane stabilzing, antimicrobial and antidiarrhoeal activities by using standrd druggss; strepptokiinase, acetyl salicylic acid, kkaannamyycn, loperamide, resppectively

Results: the study of therombolytic activity, the ESF showed highest percent of clot lysis [58.67%] as compared to [69.23%] and [3.77%] exhibited by the standard streptokinase and water. In case of membrane stabilizing activity, ESF also significantly inhibits the haemolysis of human erythrocyte membrane both induced by hypotonic solution [65.33 +/- 0.50%] and by heat [56.22 +/- 0.69%], respectively as compared to [71.12 +/- 26%] and [75.92% +/- 0.29%] demonstrated by acetyl salicylic acid [ASA]. Highest scavenging activity was found in ESF towards DPPh free radical with IC[50] values [18.05 +/- 1.8 micro g/ml]. In the antidiarrheal assay, EE inhibited the mean number of defecation by 45.71% and 63.18% at 200 mg/kg and 400 mg/kg body weight, respectively. The extracts showed varying degree of inhibitory potential against all the tested bacteria

Conclusion: findings of the present study indicate that leaves of Truimfetta pilosa could be used against thrombosis, membrane stabilizing, diarrhoea and important human pathogenss. It is, may be presence of significant amount of bioactive compounds in leaves of Truimfetta pilosa. Our findings justify the traditional uses of the plant species. Therefore, plants are good candidates for further chemical investigations to isolate the new active constitute

Platelets dysfunction in patients of end stage renal disease

Patients with end - stage renal disease [ESRD] develop increased bleeding tendency, which is characterized by defective interaction of platelets with damaged sub endothelium due to impaired platelet functions. This study was earned out to demonstrate the aggregation defects in uraemic patients by using different platelet agonists. A total of 57 subjects were included in the study. These were divided into two groups; 37 patients of ESRD on maintenance haemodialysis and 20 healthy adults as control. Complete blood count [CBC], urea and creatinine were carried out on all the samples. Aggregation studies were performed using chronology 490 - 2D Platelet Aggregometer. Adenosine diphosphate [ADP], collagen, ristocetin and arachidonic acid were used as agonists to perform aggregation studies and correlation of these parameters with Haemoglobin [Hb], Haematocrit [Hct], urea and creatinine were determined. All the subjects included in this study were evaluated for platelet aggregation in vitro. Percentages of maximal aggregation of platelets with ADP, collagen, ristocetin and arachidonic acid were significantly low in uraemic patients as compared to the control group. Aggregation with ristocetin was particularly reduced in uraemic patients [Mean 57.54 +/- 23.85%] in comparison with controls [Mean 84 +/- 6.01%]. Inverse correlation of urea was found with ADP response [p value 0.028] and creatinine with arachidonic acid [p value 0.036] which was statistically significant. No correlation was found between haemoglobin, haematocrit and percentage of maximal aggregation after stimulation with collagen, ADP, ristocetin and arachidonic acid. Aggregation responses were reduced with almost all the agonists, especially ristocetin as compared to control samples. This shows that defective platelet - vessel wall interactions play an important role in uraemic bleeding tendency