ABSTRACT
Objective: To identify the phenotype and genotype of hypodontia for a Pakistani family with hypodontia and to map the genes locus responsible for this disease
Study Design: Descriptive study
Place and Duration of Study: This descriptive study was performing in human molecular genetics [HMG] laboratory of Baluchistan University of information technology, engineering and management sciences [BUITEMS]. The study was of 4 months duration
Material and Methods: Blood samples [5ml] were collected from all 15 families' members [35participant]. Genomic DNA was extracted by using inorganic method. All the three coding exons of PAX9 [NM_006194] were amplified and sequenced. Sequencing of the PAX9 coding exons and splice sites showed a homozygous misses substitution in exon 3 [c. 718G>C; p.Ala240Pro] in the affected individuals of the family
Results: Intra-oral and panoramic radiographs revealed that the proband [II-1] and her father [I-1] have hypodontia denoted by the complete absence of teeth in maxillary arch, while all other family members maintained normal dentitions. The missing teeth are both upper lateral incisors [12, 22 FDI numbering] and third molars [18, 28]. Mandibular arch show; retained deciduous teeth and no teeth permanent teeth missing. Pedigree construction indicated that phenotypes in this family showed an autosomal recessive segregation pattern. The sequencing of coding exons and splice sites of PAX9 gene showed a homozygous missense mutation in exon number 3 [c. 718G>C; p.Ala240Pro] in the affected individuals of the family
Conclusion: We identified a missense mutation [p.Ala240Pro] in gene PAX9 coding exon 3 in Pakistani family with hypodontia
ABSTRACT
To evaluate visual outcome and complications in intraocular foreign bodies. Descriptive case series. This prospective study was carried out in the department of Ophthalmology, Services Hospital Lahore, over a period of one year from July 2008 to July 2009. Eighteen patients having magnetic or non-magnetic intraocular foreign bodies [IOFBs] were included. The location of foreign body was determined with the help of slit lamp, direct and indirect ophthalmoscope, orbital radiogram, B-scan and CT scan. Patients with open entry wound underwent primary repair. Vitrectomy for intraocular foreign body was performed within to weeks of primary repair. Eighteen eyes of 18 patients were analyzed. There were 17 [94.44%] males and 1 [5.66%] female. Pre-operative visual acuity was perception of light in 9 [50%], hand movement in 5 [27.77%], finger counting in 2 [11.11%] and 6/60 in 2 [11.11%] patients. Post operative visual acuity was 6/18 or better in 6 [33.33%] and 6/60 in 4 [22.22%], hand movements in 6[33.33%], perception of light in 2 [11.11%] patients. Lens touch occurred in 1 [5.55%] patient and endophthalmitis developed in 1 [5.55%] patient. Giant retinal tear and total retinal detachment [RD] in 1 [5.55%] and phthisis bulbi in 1 [5.55%] patient. Intra ocular foreign bodies contribute a significant component of ocular morbidity associated with open globe injury. However with prompt treatment a useful vision can be restored
Subject(s)
Humans , Male , Female , Visual Acuity , Prospective Studies , VitrectomyABSTRACT
Objective: The Urticaria caused by NSAIDs wasstudied for their antioxidant enzyme activity andmalondialdehyde [MDA] concentration
Methodology: Patients were divided into twogroups; group one act as a control and the remaininggroup was urticaria patients. The levels of theThiobarbituric acid reactive substances [TBARS, asa marker of lipid peroxidation], superoxidedismutase [SOD], glutathione [GSH] and catalase[CAT] in the serum were estimated. The enzymaticactivity was estimated and compared with differentcategories of NSAIDs
Results: In present studyCAT, SOD and lipid peroxidation product [MDA]were statistically different from that of healthycontrol and showed significant changes [p< 0.05]while GSH showed a non-significant [p>0.05]value
Conclusion: It is concluded thatantioxidative system of the body is accelerated andshows variations in the patient of Urticaria.Moreover, present study shows the co-ordinatedenzymatic mechanism and the interrelationshipbetween enzymatic activities in allergy
ABSTRACT
Objective: to observe the effect of abdominal obesity on fasting blood glucose levels in T2DM patients who are on treatment with oral hypoglycemic agents
Material and Methods: the study included 55 T2DM patients, who were taking oral hypoglycemic drugs for the last 3 to 5 years. Abdominal obesity was assessed by measuring waist circumference. Fasting blood glucose levels were measured in all patients
ResuIts: according to our observation there were 41.81% non-obese, 23.63% overweight and 34.54% obese T2DM patients. The obese T2DM patients had significantly higher mean fasting blood glucose level as compared to nun-obese and overweight T2DM patients [p<0.001]. Overweight T2DM patients though had higher mean fasting plasma glucose levels as compared to non-obese T2DM patients but it was not significant
Conclusion: Abdominal obesity is associated with significantly higher fasting blood glucose levels in T2DM patients who are on treatment with oral hypoglycemic agents
ABSTRACT
Objective: to assess the anatomical and functional results in macular hole surgery
Material and Methods: this study was conducted in the department of ophthalmology, SIMS/ Services Hospital Lahore over a period of one year between July 2008 to July 2009. Eighteen eyes of eighteen patients were included in this study. Pars plana vitrectomy was done in all cases. Internal limiting membrane [ILM] staining with trypan blue or brilliant Perfluoropropane [C3F8] 14% was used in 17 cases and silicone oil was used in one case for internal tamponade. Patients were advised to posture in face down position for one week. All patients were followed-up for at least six months
Results: 18 eyes of 18 patients were operated. 15 [83.33%] patients had idiopathic while 3 [16.66%] had secondary macular holes. There were 17 [94.44%] phakic and 1 [5.55%] pseudophackic patients. In 5 [27.77%] ILM staining was done with brilliant peel while in 13 [72.22%] patients Trypan blue was used. For internal tamponade C3F8 was used in 17[94.44%] patients and in 1 [5.55%] silicone oil was used. Postoperatively, 100% macular hole closure was achieved in all cases with at least 6 month follow-up
Conclusion: pars plana vitrectomy with ILM peeling is a very effective technique for the surgical closure of full thickness macular holes. This technique should be combined with post-operative head posturing for at least one week to expedite hole closure