Medico-genetics of oculocutaneous albinism; An updated study with Pakistani perspective

Albinism is a rare genetic disease associated with reduced melanin pigment biosynthesis in eyes, skin or hair. Clinically it is categorized, based on the affected tissue, into two types i.e ocular albinism [OA]; when hypopigmentation influence the retinal pigment epithelium leaving skin and hair unaffected, and oculocutaneous albinism [OCA]; when hypopigmentation occur in hair, skin and eye. Various genetic studies to date identified six genes [TYR, TYRP1, OCA2, SLC45A2, SLC24A5, C10orf11] and a locus [OCA5] for whom the candidate gene is yet to be known. All these reported genes, at the molecular level, are involved in melanin pigment biosynthesis. Among these reported genes, TYR and OCA2 are the most prevalent genetic factors of OCA in Pakistani population. The study will assist in understanding the molecular factors of OCA and melanin synthesis pathway to reduce its prevalence rate. The review aims to systematically reread and analyze the oculocutaneous albinism and its various types in the context of developed world as well as Pakistani community

Optimized antimicrobial peptide [Bacitracin] production by immobilized and free cells and of bacillus Spp GU215 using wood chips and silicon polymer beads

The immobilization of bacillus spp. GU215 on silicon polymer beads, wood chips was performed and antibiotic peptide [bacitracin] production, optimization of parameters were investigated. The immobilized cells presented elevated levels of activity than free cells. The silicon polymer based cells showed widest zones of inhibitions [18mm] in 72 hours and 4% concentration of glucose, PH 8 and 30°C, whereas a marginal decrease in the activity [14mm] was noticed in case of wood chips based immobilization systems and least stable immobilization in 72 hours incubation time, 4% glucose concentration, PH 8 and 30°C. This study illustrates that the silicon polymer based beads facilitate a strong interactions with bacitracin producing cells and render them suitable for excessive and long time production of antibiotic

Complete elimination of indigenously isolated agrobacterium tumefaciens strains by quinolone and metallo beta-lactam antibiotics

The present study aimed to isolate Agrobacterium tumefaciens strains from lycoperiscum esculantum [Tomato] galls and investigate in vitro the potential killing activities of various antibiotics. Seven Agrobacterium tumefaciens strains namely WF2, WF7, WF7d, WF11, WF12, WF14 and WF15 were isolated from galls of different lycoperiscum esculantum from various fields in district D.I.Khan. The isolated strains were assayed for their ability to initiate tumors by using a carrot and potato disc assay. Primarly six antibiotics were screened for susceptibility against Agrobacterium tumefaciens by a disc diffusion assay. The antibiotic with the widest zones of inhibition were used for determination of the minimum inhibitory concentration [MIC] and minimum bactericidal concentrations [MBC].The MIC and MBC of meropenem against almost all strains were the same [0.025mg/ml] except for WF14, [MIC/MBC 0.05mg/ml]. The ciprofloxacin was reported as the second most active antibiotic against A. tumefaciens. Suppression of the growth of all strains occurred at 0.0031mg/ml except for WF7 and WF14 with MIC 0.0062mg/ml. The MBCs of all strains are the same as the corresponding MICs. However, the strain WF15 was two times higher [0.0093mg/ml]. The amoxicillin also represented comparatively lower MIC/MBC [0.2mg/ml] except WF14 [MIC 0.4mg/ml, MBC 0.8mg.ml] without clavulanic acid. It is concluded that both meropenem and ciprofloxacin were highly effective in eliminating the Agrobacterium tumefaciens in a low concentration. These findings prove the effective use of ciprofloxacin and meropenem in agrobacterium mediated transformation in plants

Intestinal tuberculosis presenting as acute abdomen

To study the outcome of intestinal tuberculosis presenting as acute abdomen. Descriptive Study. Bolan Medical Complex Hospital [BMC] Quetta and Combined Military Hospital [CMH] Quetta from Nov 2003 to Nov 2005 from Bolan Medical Complex and from Nov 2005 to Nov 2006 in CMH Quetta. Thirty seven patients of acute abdomen presenting with intestinal obstruction were admitted; 28 from emergency department and 9 from out patient department. Twenty seven patients were from BMC and 10 from CMH Quetta. Patients were diagnosed as having abdominal tuberculosis on the basis of operative findings and histopathological reports. Out of 37 patients presenting with acute abdomen due to intestinal obstruction, 54% were male and 46% were female with M: F ratio of 1: 1.2. Age of the patient ranged from 20 to 50 years, with maximum frequency between 30 to 40 years. Abdominal pain was the commonest presenting feature in all patients followed by constipation in 81.1% patients. Peritonism was seen in 27% patients. Different operative procedures performed were adhesionolysis 65.8%, segmental resection 7.9%, right hemicolectomy 10.5%, stricturoplasty 7.9% and ileostomy 1.3%. Mesenteric lymph node biopsy 40.8%.Intestinal tuberculosis is still a very important surgical problem in our country presenting as acute abdomen. A suspicion must always be kept during laparotomy and adequate tissue histopathology should supplement the diagnosis.

Congenital talipes equinovarus

To determine the functional outcome of one stage posteromedial release in congenital clubfoot in terms of functional and radiological assessment. Forty five patients having clubfoot deformity were included in the study. Fifteen patients had bilateral deformities. The outcome was evaluated by functionally assessing the foot in the last review visit [at the end of 14th week of surgery] using the rating system of McKay, which has ten categories and has a maximum score of 180 points. It rates the outcomes as excellent good, fair, poor and failure [Fig -1]. Radiological assessment is made by measuring various angles on anteroposterior and lateral radiograph of the foot with gonometer at 3, 6, 10 and 14 weeks after release [Table -II]. The values of talocalcaneal angle [measured during every visit] on AP and lateral views will be summated to yield talocalcaneal index, and an index of >40 degree was taken as normal. Forty five patients included in the study with clubfoot deformity. Out of these patients, 33 [73.33%] were males and 12 [26.66%] were females [table -I]. They were graded according to the McKay rating system. In this short term follow up of one year, the following results were observed. Thirty-nine [65%] patients had excellent results, 11 [18.33%] patients had good results, 3 [5%] patients had fair results and 7 [11.66%] patients had poor results [Fig-1]. No case can be labeled as failure. Mild to moderated clubfoot deformities can be successfully treated in children up to five years of age by one stage postero-medial release

In vitro screening of Circium arvense for potential antibacterial and antifungal activities

The antimicrobial activities of Circium arvense extracts were evaluated against two human gram positive [Staphylococcus aureus, Micrococcus luteus] and four gram negative pathogen [Escherichia coli, pseudomonas aeruginosa, Enterobacter, Klebsiella pneumoniae]. The Methanol extracts of Circium arvense were used to obtain various fractions [XI] n-hexane, [X2] chloroform, [X3] ethyl acetate and [X4] n-butanol. The agar well diffusion assay and agar dilution susceptibility testing were carried out to determine the zone of inhibitions and the minimum inhibitory concentration respectively. Antifungal activity was employed by agar well diffusion method. The Ampicilline, Ofloxacine and Itraconazole were used as standard agents. Almost all fractions exhibited more or less antimicrobial activity. The X2 [Chloroform] fraction was reported as highly active fraction with good antimicrobial activity MIC 0.312 mg/ml against Staphylococcus areous. The MBC values of fraction X2 [chloroform] was 2 times the MIC. Similarly all fractions exhibited good inhibitory activities against Aspergillus niger. The fraction Xl [n-hexane] was found highly active 6[ +/- 0.11], followed by X2 [chloform] fraction 5 [ +/- 0.17]. Present study provides a base to explore the antimicrobial potential of Circium arvense. It is concluded that the Circium arvense having potential antibacterial and antifungal activities, irrespective of fact that the MIC values reported were high. Further investigations are recommended to exploit the hidden medicinal value of plant

Outcome of intramedullary kirschner wire fixation in children

To know the functional outcome of Intramedullary Kirschner Wire fixation of unstable Radius-Ulna fractures in children. Descriptive study. 27/03/2009 to 26/03/2010. Department of Orthopedic and Trauma, Khyber Teaching Hospital, Peshawar. All patients were admitted from OPD. Children less than 16 years with Unstable Radius-Ulna fractures were included in the study. Patients with open fractures and adults with polytrauma were excluded from the study. Unstable Radius-Ulna fractures were treated by Intramedullary Kirschner Wire fixation under general anesthesia and tourniquet control. Follow up till radiological and clinical union was done. K-wires were removed after healing of fractures. Patients were assessed functionally and radiologically and results were graded according to Price et al Criteria. A total of 64 children with unstable radius and ulna fractures were included in the study. The age range was 6 to 15 years with average age of 10.41 years. 47 were male and 17 were female. The average time of radiological union was 7 weeks and K-wires were removed at 8 weeks time. At final assessment there were 47 Excellent, 10 Good and 7 Fair results. Excellent results can be achieved by Intramedullary K-Wires fixation. In children with unstable Radius-Ulna fractures. It should be the method of choice for treating these fractures

Quantitative status of heavy metals in soils of Quetta irrigated by sewage water

In soils of different areas of Quetta city, irrigated by sewage water, the highest concentration of heavy metals was found to be as follows: lead [1.38 ppm], copper [0.86 ppm], chromium [0.036 ppm], cadmium [0.29 ppm], iron [10.50 ppm], nickel [0.74 ppm], zinc [19.45 ppm] and arsenic [0.001 ppm] on average basis. The sewage water contained lead [53.26 ppb], copper [22.5 ppb], chromium [1.33 ppb], cadmium [0.53 ppb], iron [127.7 ppb], nickel [51.14 ppb], manganese [17.08 ppb], zinc [31.38 ppb] and arsenic [0.011 ppb]. At each site the concentration of heavy metals and sewage water showed positive relationship

Review of prescriber approach towards rational drug practice in hospitalised patients

The rational drug prescribing practice is an important health concern around the globe that not only interferes patient's life but also the socioeconomic issues. The aim of current study was to evaluate the rational use of drug, prescribing behaviour of consultant physicians, role of medical team members in irrational therapy and form the basis for providing necessary information to the policy makers. This cross-sectional study was conducted involving a set of 340 medication orders containing about 1,755 medications prescribed to patients in DHQ Teaching Hospital DI Khan, Pakistan from March to July 2009. The WHO operational package for monitoring and assessing country pharmaceutical situations indicators were used for data collection. Among drugs prescribed per average encounter, 75% were dispensed from hospital pharmacy. Generally about 22.3% encounters of overdosing, 16.16% drug duplication, 24.25% drugdrug interactions, 3.5% adverse drug effects and 3.8% cases of contraindications were recorded. The proportion of consultations with antibiotics and injectables prescribed was 80% and 57% respectively. Likewise not less than 70% patients were prescribed NSAIDS, 67% steroids, 55% vitamin supplements, and 34% oral re-hydration solutions. Minimum 5 drugs per prescription were recorded and 70% of prescriptions were reported with high cost of therapy. The drug practice among hospitalised patients was clearly irrational accompanied by high levels of medication error. An accurate prescribing decision, appropriate treatment, and rational use of drugs are major needs of the day to ensure safe medication practice

Operative management of closed ankle fracture with AO techinque

The purpose of the study was to assess the result of closed ankle fracture with open reduction and internal fixation [ORIF] with AO Technique. Material and This study was done on thirty patients at Ayub Teaching Hospital Complex, Abbotabad from Jan 2004 to Dec 2004. All the patients had closed bimalleolar fracture. The medial malleolus was fixed with two self tapping malleolar screws with washers and lateral malleolus was fixed with one third tubular plates. The overall results were graded as excellent, good, fair and poor. In 26 patients [86.8%] fractures healed uneventfully and follow up were completed. Two patients [6.6%] developed wound infection, which were superficial and two patients [6.6%] developed skin necrosis. More complications were observed in patients who had high-energy trauma. Radiological and functional assessment was done at each follow up visit. The results were excellent to good in 93.4%. Displaced closed bi- malleolar fractures should be addressed with open reduction and internal fixation using AO Technique to get functional and anatomical acceptable results