Mutation analysis of PAX9 gene in affected family of Hypodontia attending tertiary care hospital of Quetta

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

Role of autologous platelet rich plasma [PRP] in limied alopecia areata in local population

Objective: To evaluate the efficacy and safety of autologous platelet rich plasma [PRP] in treatment of limited alopecia areata in local population

Methods: We performed a prospective study of 20 patients with Alopecia Areata. Both females and males with one or multiple patches of alopecia were included. Autologous PRP was injected once a month for three months. Primary endpoint was regrowth of hair. Digital phtographs were taken before treatment and after each visit. Patients were further followed up for 6 months after treatment for any relapse or side effect. Results were assessed clinically and using digital photographs

Results: Out of 20 patients, 6 [30%] had excellent response, 5 [25%] with good response, 4 [20%] with fair and 5 [25%] poor response. Mild pain at the site of injection was noted for 5 to 30 min at injection site. No other side effect was noted nor reported by any of the patients. Patient compliance and satisfaction was good and all patients completed the treatment

Conclusion: PRP is safe, low-cost and effective treatment of alopecia areata

Rheumatoid arthritis: what have we learned about the causing factors?

Rheumatoid Arthritis [RA] is a common inflammatory autoimmune disease characterized by the synovitis of both small and large joints, which may lead to the destruction of cartilage and bones causing significant disabilities due to erosion of bones surfaces, if left untreated. It is a multifactorial and heterogeneous disease having contribution of both genetic [50-60%] and environmental factors. The unawareness of general public might be a contributing factor in the high prevalence rate of RA world-wide. This review article focuses on the causing factors [genetics and environmental] involved in this devastating disease. We also gave brief overview of the treatment options and animal models of RA. The literature was reviewed using mesh terms in PubMed search "etiology of RA, genetics of RA, environmental factors in RA, Genome Wide Association Studies [GWAS] in RA". The data was thoroughly reviewed and comprehensive information was extracted to help the readers in improving understanding towards the mechanisms, which trigger the outcomes of RA. The more we increase awareness about RA, the better we manage this disease and hence can improve life style and socio-economic status

Frequency of pruritic dermatoses among pregnant women

Objective To determine the frequency of pruritic dermatoses among pregnant women.

Methods This, cross-sectional study was conducted at Obstetrics out-patient department, Bahawal- Victoria Hospital, Quaid-e-Azam Medical College, Bahawalpur, over a period of 6 months in 238 Pregnant women of age ranging from 20 to 40 years. Following specific pruritic dermatoses of pregnancy were searched and recorded on pre-designed proforma and analyzed: pemphigoid gestationis, polymorphic eruption of pregnancy, prurigo of pregnancy, intrahepatic cholestasis of pregnancy, eczema in pregnancy and pruritic folliculitis of pregnancy.

Results Among 238 pregnant women, 14 [5.9%] presented with pruritic dermatosis of pregnancy while in rest of 224 [94.1%] patients no specific dermatosis of pregnancy was found. Out of those 14 patients, polymorphic eruption of pregnancy was seen in 5 [35.7%] patients, eczema in pregnancy in 4 [28.6%], pemphigoid gestationis in 2 [14.3%], prurigo of pregnancy in 1 [7.1%], intrahepatic cholestasis of pregnancy in 1 [7.1%] and pruritic folliculitis of pregnancy in 1 [7.1%] patient. The dermatoses of pregnancy was detected in 5 [35.7%] patients in the age group 20-25 years, 4 [28.6%] patients of age group of 26-30 years, 2 [14.3%] patients of age group of 31-35 years and 3 [21.4%] patients of age group of 36-40 years of age.

Conclusion Pruritic dermatoses of pregnancy are not uncommon among pregnant women and should be considered while evaluating pregnant women. Polymorphic eruption of pregnancy is most frequent pruritic dermatosis of pregnancy, followed by eczema of pregnancy.

Frequency of cutaneous manifestations in patients of hepatitis C infection

Objective To determine the frequency of cutaneous manifestations in patients suffering from hepatitis C infection.

Methods In this cross-sectional study, one hundred diagnosed patients of hepatitis C, admitted in medical units of Bahawal-Victoria Hospital, Bahawalpur, Quaid-e-Azam Medical College, Bahawalpur were registered over a period of six months. Cutaneous manifestations in these patients were recorded and analyzed.

Results Out of 100 patients, 51 [51%] were males and 49 [49%] were females. Majority of the patients [73%] were 20 to 59 years old. Most of the patients had more than one cutaneous manifestation. These included generalized pruritus 30%, lichen planus 30%, urticaria 26%, leukocytoclastic vasculitis 25%, necrolytic acral erythema 20% and porphyria cutanea tarda 4%.

Conclusion Cutaneous manifestations of hepatitis are not uncommon. These may be the first clinical sign of chronic hepatitis C infection. Generalized pruritus, lichen planus, urticaria, leukocytoclastic vasculitis, necrolytic acral erythema and porphyria cutanea tarda were the important cutaneous manifestations recorded. Screening such patients on the basis of these dermatoses and investigating accordingly may help in early diagnosis and prevention of complications of this grave disease.

Efficacy of port-site and intraperitoneal application of bupivacaine in reducing early post-laparoscopic cholecystectomy pain

The aim of this study was to assess the analgesic efficacy of Bupivacaine application at port-site and intraperitoneal infiltration in patients with laparoscopic cholecystectomy. Randomized Controlled Clinical Trial. The study was conducted at Rehman Medical Institute [RMI] Peshawar, Pakistan from June 2009 to June 2012. Patients who underwent elective laparoscopic cholecystectomy during the study period were included in the study. Eighty patients were randomized into two groups, study group and control group. The study group received 40 ml of 0.25% bupivacaine intraoperatively as intraperitoneal infiltration and local infiltration at the port sites. Pain assessment was done using visual analogue pain score [VAS] of 0-10 at fixed intervals during .the first 24 hours post surgery. The mean VAS score in the study group was less as compared to the control group throughout the 24 hours assessment period, however this difference was statistically significant [p<0.001] only during the first three assessments at 1 hour, 4 hours and 8 hours post surgery. The analgesia requirement was also significantly [p<0.001] decreased in the study group. Port site and intraperitoneal application of local anesthetic bupivacaine significantly reduced pain during the first 8 hours post surgery and total analgesia requirement was also significantly reduced. It is a simple and easily applicable technique which increases patient comfort and can be safely used to decrease post operative pain in patients undergoing laparoscopic cholecystectomy

Helicobacter pylori virulence regulatory network: insights into the host-environment and pathogen interactions

Helicobacter pylori [H. pylori] has involved significant regulatory mechanisms in order to acclimatize in extreme gastric environment of human beings. The virulence machinery of H. pylori is complicated as virulence factors of pathogen not only interact with transcription and translational machinery of host, but also are involved in the progression and development of the disease. The present study is an effort to model virulence mechanism in H. pylori, particularly ferric uptake regulator [FUR] under acidic and iron [Fe] depleted conditions, as well as its effects on the well known virulence factors cytotoxin-associated gene A [cagA] and vacuolating cytotoxin A [ vacA] gene. The virulence regulatory network of cagA and vacA is modeled based on an asynchronous kinetic logic formalism introduced by Rene Thomas. The cagA-vacA virulence regulatory network is then elaborated qualitatively to obtain insights into H. pylori induced pathogenesis. The findings have revealed the significant regulatory pathways through which H. pylori spreads infection to the gastric cells, and also verified that cagA is associated with acute gastritis while vacA is involved in vacuolation, apoptosis and atrophy. Interestingly, both cagA and vacA were found to modulate each other virulence potential which ultimately leads to the state of chronic gastritis; which in turn drives the pathway smoothly towards gastric adenocarcinoma via the formation of premalignant lesions. The proposed strategy can be extended to understand the mechanism of other similar bacterial infections and disease progression. It will also help in the prioritization of potential therapeutic targets to control such serious infections

Disseminated superficial actinic porokeratosis: a case report

Disseminated superficial actinic porokeratosis [DSAP] is characterized by small, atrophic patches with distinctive keratin rims that occur on sun-exposed areas of the extremities, shoulders, and back. The diagnosis is based on the histopathologic finding of a cornoid lamella, absence of a granular layer, and often a thin epidermis. It is associated with exposure to ultraviolet radiation. We report a case of DSAP in our setting

Effectiveness of procedure for prolapse and hemorrhoids in immediate postoperative period

To document the early outcome of stapled hemorrhoidopexy, the procedure for prolapsed and hemorrhoids [PPH]. Descriptive case series. Rehman Medical Institute [RMI], Peshawar; from May 2012 to May 2013. A total of 24 patients requiring surgical treatment for prolapsing hemorrhoids of degree II and III were included in the study. Outcome measures were postoperative pain, bleeding, sepsis, urinary retention, relief of preoperative symptoms, operation time and length of hospital stay. Mean age of patients was 46.8 year. All surgeries were performed under spinal anesthesia. Mean surgical time was 22.5 minutes. The average distance between the stapling line and the dentate line was 2.6 cm. Postoperative pain at rest and during defecation was mild to moderate after PPH. Healing time was shorter after PPH and no patient had perioperative or postoperative bleeding. Postoperative pain was mild to moderate in majority of patients. There were no intraoperative or postoperative complications. PPH was a safe procedure and resulted in swift recovery and earlier return to work

HIV/AIDS outbreak investigation in Jalalpur jattan [JPJ], Gujrat, Pakistan

In June-July 2008 a non-governmental organization [NGO] in Jalalpur Jattan [JPJ], Gujrat, Pakistan arranged two voluntary HIV screening camps after numerous HIV-infected persons reported to their treatment center in Lahore; 88 [35.8%] of 246 persons screened in those camps were positive by rapid test. Intense media coverage made the residents of JPJ hostile to further inquiries. The Pakistan Field Epidemiology Training and Laboratory Training Program [FELTP] was requested by the Provincial AIDS Control Program to carry out an epidemiological investigation. HIV-positive persons or family members of patients who died of AIDS and consented to be interviewed during the period 15 December 2008 to 2 January 2009 were investigated. Enhanced contact tracing was done to identify additional cases. A structured questionnaire was used to collect data regarding clinical history, risk factors, and HIV knowledge and practices. The national HIV/STI Referral Laboratory collected blood samples for HIV serology and molecular studies independently following pre- and post-counseling. A total of 53 HIV-infected persons were investigated. Out of these, 47 [88.7%] were alive at the time of investigation and 27 [50.9%] of the cases were female with 6 children aged 10 years or less. Median age was 35 years [mean 34.7, range 3-70]. Most frequent symptoms were unexplained fever 42 [79.2%], diarrhea 34 [64.15%] and skin infections 27 [50.9%]; 13 [24.5%] had co-infection with tuberculosis [TB] and 10 [18.9%] with hepatitis [B or C]. Use of injections 51 [96.2%], dental procedures 21 [40%] and barber shop visits among males 18 [72%] were common risk factors. Extramarital sex was reported by 4 [9.4%]. Only 19 [35.8%] were aware that HIV can be sexually transmitted and 18 [34%] were aware of HIV transmission by blood transfusion. Phylogenetic analysis revealed HIV infection in this group was HIV-1 Subtype A, transmitted over a decade, and the situation is endemic rather than an outbreak. The investigation indicates high rates of HIV infection in JPJ. Unlike other studies from Pakistan, a high proportion of cases in females and children less than 10 years of age were observed. Socio-cultural norms and stigmatization limited in-depth investigation of sexual and behavioral practices and history of drug abuse. A shift of HIV infection from high-risk groups to the general population was seen and requires vigilant surveillance besides targeted health education, clinical management, lab facilities for diagnosis and monitoring, and voluntary counseling and testing services to limit disease spread

Laparoscopic repair of ventral hernia

To determine the outcome of patients in terms of wound complications and follow-up, after laparoscopic ventral hernia repair. A case series study. Department of Surgery, Dubai Hospital, Dubai, from January 2007 to December 2011. All patients above 13 years of age, who underwent laparoscopic ventral hernia repair, were included. A proceed dual mesh was used for repair of hernia. Multiple parameters were analyzed, including demographic features, presentations, co-morbid conditions, duration of hernia, and defect size. The duration of surgery, postoperative complications, and follow-up of these patients in terms of suture site pain and recurrence of hernia were also analyzed. The data was expressed as frequency, percentages and mean +/- standard deviation of values. There were 27 patients with mean age of 47 +/- 10.3 years, including 20 female [74.07%] and 7 male [25.95%] patients. All patients presented with abdominal wall swelling. The hernia was partially reducible in 12 patients [44.44%], and completely reducible in 15 patients [55.55%]. Seven patients [25.95%] had hypertension, 4 [14.81%] had ischaemic heart disease, and 4 [14.81%] had obesity as co-morbid conditions. All patients underwent laparoscopic hernia repair with proceed dual mesh. The mean defect size of the hernia was 6 cm, and mean duration of surgery was 94 minutes. Early postoperative complications included, seroma in 3 patients [11.11%], and haematoma in one patient [3.70%]. The mean follow-up was 23 months. Four patients [14.81] had pain at suture site. Laparoscopic repair is an appropriate approach for ventral hernia repair. It results in good repair and low wound complications in terms of haematoma and wound infection. There was no recurrence of hernia in this study

Efficacy and safety of ablative fractional carbon dioxide laser for acne scars

Acne may lead to long term squelae including physical scars. Lasers have been used with variable degree of success but literature pertaining to Asian population is sparse. To evaluate the efficacy and safety of carbon dioxide [CO[2]] fractional laser in the treatment of acne scars in the local population. Twenty patients with mild to moderate atrophic acne scars were registered and subjected to monthly fractional CO[2] laser resurfacing for six sessions and final evaluation was done six months after the last treatment. More than 71% patients showed variable degree of improvement. No severe long term complications were noted in any patient. Study suggests that CO[2] Fractional laser may prove a useful addition in the management of acne scars in our patients as well

Tramal as a monotheraphy; pain buprenorphine with control - a comparison

To achieve reduction in postoperative pain and improved quality of analgesia accompanied by reduction in side effects. This study was carried out by the anaesthesia department and intensive care unit, Nishtar Hospital, Multan from June 2009 to May 2010. A total of 200 patients were observed, which were undergoing for thyroidectomy and were divided into two groups. The duration of analgesia in the two groups was almost similar. Rescue analgesia was given to 10 patients out of 100 patients in Buprenorphine and 24 patients out of 100 patients in tramadol. Pain scores were more in group-I than group-II, although nausea/vomiting were more in group-I than in group-II. This analgesia regimen of intramuscular buprenorphine was found to be an improved, balanced and safe analgesic technique for postoperative pain relief

Brown-Mclean syndrome with keratoconus

We report a case of unilateral Brown-McLean syndrome [peripheral corneal oedema] with bilateral keratoconus. A 30 years old lady presented with decreased vision in her right eye for the last 2 years. There was no history of surgery or trauma. Patient had no systemic illness. There was peripheral concentric corneal oedema extending 2.5-3.5 mm from the limbus involving right eye. On topography, we found bilateral keratoconus. To the best of our knowledge, this combination of Brown-McLean syndrome and keratoconus has not been reported before

Myocardial infarction

To assess the frequency of hyperhomocysteinemia in patients of first attack of ST-segment elevated myocardial infarction under age of 40 years. Cross sectional study. December 2009 to June 2010. Ch. Pervaiz Elahi Institute of Cardiology, Multan. A total of 65 patients of acute myocardial infarction were included in the study on the basis of chest pain, ECG changes and increased cardiac enzyme. A total of 65 patients fulfilled the inclusion criteria were included the study. Mean age was 35.68 years. Out of the 65 patients, 87.7% were male and 12.3% were female, 41.5% patients has increased homocysteine level while 68.5% had normal homocysteine level. Plasma Hcy is an important risk factor for the development of the acute myocardial infarction

Causes of heart failure - a study in cardiology Department Pakistan institute of medical sciences [PIMS], Islamabad

Objective: to find out causes of heart failure in patients who presented for echocardiography in PIMS Islamabad

Material and Methods: this observational study was carried out in 100 consecutive patients with history of dyspnea and abnormal echocardiography who reported to the Cardiology Department, PIMS, and Islamabad

Results: out of 100 patients, 43 were male and 57 were female. Fifty one percent patients were above the age of 50 years and only 21 % were under 30 years of age. Hypertension was present in 51 % patients while 22% had diabetes mellitus. Coronary artery disease was present in 26% cases and was the commonest cause of systolic dysfunction

Conclusion: diastolic dysfunction was the leading cause of heart failure followed by myocardial infarction and rheumatic heart disease

Oral mucosal lesions in complete denture wearers

To determine the frequency of oral lesions related to gender, age, the length of time of denture usage, the balance of denture and cleaning methods. 106 patients who had old complete dentures and came to Dental Department to have new complete dentures were registered in the study. Frequency in relation to different factors was estimated. Cleaning methods and frequency were divided into 3 subgroups respectively as tooth brush and tooth paste/soap, denture cleansing tablets and sodium carbonate and 3 times a day, every day, every 3 days and once a week. Distributions of oral lesions in different areas were noted. The data obtained were evaluated by one-way ANOVA u test, student t test. The level of statistical significance was set at p<0.05. In 106 patients [51 men and 55 women], 37-80 years of age with a mean age of 60.28 years, oral lesions were present more as the age increases, the more lesions were observed In female patients and associated with unstable dentures. The patients displayed statistically significant difference in presence of oral lesions with the method of cleaning and the way the patients used their dentures. The complete denture wearers should be educated about the importance of periodic examination due to changes of supporting tissues and early detection of mucosal lesions to maintain their oral and denture hygiene in optimum level

Fascioliasis - a cause of obstructive jaundice: a case report

A rare case of obstructive Jaundice in a 35 yrs old male from Afghanistan is presented with recurring attacks of upper abdominal pain and jaundice. Ultrasound examination revealed multiple gallstones with' dilated common bile duct. During exploration of common bile duct, five leaf like liver flukes [Fasciola Hepatica] were recovered and identified. Patient was treated with Albendazole and had an uneventful recovery. Biliary fascioliasis should be considered in the differential diagnosis of obstructive jaundice

Bier's block; comparison of lignocaine vs lignocaine + ketorolac

To compare the duration of anaesthesia and degree of analgesia during intravenous regional anaesthesia using lignocaine alone and lignocaine with ketorolac. This international quasi experimental study. Nishtar Hospital, Multan. Six months [from June 2004 to November 2004]. Patients with known allergy to local anaesthesia or keteroloca and with hepatic, renal disease were not included in the study. Mean pain score at 0,1,2,3,4,5,6 in both groups after release of tourniquet. The quality of analgesia observed in both groups showed that 20 patients in lignocaine + ketorolac group had excellent analgesia compared with only 4 patients in lignocaine group. Tourniquet pain was not experienced in any patient in both groups; owing most probably to the inflation of distal tourniquet cuff on the anaesthetized part of the arm with release of proximal tourniquet, 10 minutes after injection of solution. It is concluded that 30 mg ketorolac added to lignocaine in IVRA increases degree of anaesthesia and also provides prolonged postoperative analgesia