Pakistan Institute of Medical science PIMS

Islamabad, Pakistan

Pakistan Institute of Medical science PIMS

Islamabad, Pakistan
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Saleha S.,Kohat University of Science and Technology | Sajid M.,Kohat University of Science and Technology | Zafar S.,Pakistan Institute of Medical science PIMS | Pervaiz N.,Kohat University of Science and Technology
Open Life Sciences | Year: 2017

Intellectual disability (ID) is a neurodevelopmental disorder which appears frequently as the result of genetic mutations and may be syndromic (S-ID) or non-syndromic (NS-ID). ID causes an important economic burden, for patient's family, health systems, and society. Identifying genes that cause S-ID can easily be evaluated due to the clinical symptoms or physical anomalies. However, in the case of NS-ID due to the absence of co-morbid features, the latest molecular genetic techniques can be used to understand the genetic defects that underlie it. Recent studies have shown that non-syndromic autosomal recessive (NS-ARID) is extremely heterogeneous and contributes much more than X-linked ID. However, very little is known about the genes and loci involved in NS-ARID relative to X-linked ID, and whose complete genetic etiology remains obscure. In this review article, the known genetic etiology of NS-ARID and possible relationships between genes and the associated molecular pathways of their encoded proteins has been reviewed which will enhance our understanding about the underlying genes and mechanisms in NS-ARID. © 2017 Shamim Saleha et al. 2017.


Saaiq M.,Pakistan Institute of Medical science PIMS | Iqbal T.,Pakistan Institute of Medical science PIMS
Pakistan Journal of Pharmaceutical Sciences | Year: 2013

A 26 years old manual labourer from Azad Jammu Kashmir presented with four days history of an extensive exfoliation of skin involving the entire body. Histology of the lesion showed epidermal necrolysis. The patient was a recently diagnosed case of epilepsy and had been started on therapy with sodium valproate three weeks ago. Following admission in our center, intensive care and wound care were instituted according to standard protocols. Despite all therapeutic measures the patient kept on deteriorating and developed multi-organ failure with pneumonia. He died on 7th day of hospitalization.


Khaliq T.,Pakistan Institute of Medical science PIMS
Journal of the College of Physicians and Surgeons Pakistan | Year: 2013

Objective: To estimate the reliability of an objectively structured assessment of technical skills (OSATS) in patients for Endotracheal Intubation (ETI), using task-specific checklists during administration of general anaesthesia. Study Design: Co-relational reliability study. Place and Duration of Study: Department of Anaesthesia and Medical Education, Pakistan Institute of Medical Sciences, Islamabad, from September to November 2010. Methodology: Ten first year residents of the department of anaesthesia who had successfully completed a one-day course of ETI on mannequins and had performed 25 ETI in actual patients under supervision, were asked to perform ETI on anaesthetized patients in the operation theater after consent. The procedure was directly observed by two expert observers (ER1 and ER2) and one inexperienced observer (novice, NR) using a validated task oriented checklist. Each trainee repeated the procedure on another patient and was reassessed using the same checklist. Inter-rater for test and retest, and expert to novice reliabilities along with internal consistency were calculated. Results: The inter-rater reliability was 0.92 in test and was 0.98 in retest (Ebel's calculation). Spearman Rank Correlation Coefficient (SRCC) for ER 1 and NR was 0.76 in test and 0.89 in retest. Cronbach's alpha for internal consistency was 0.93 for first test and 0.97 for retest. Conclusion: The OSATS for ETI in real patients demonstrated excellent inter-rater test reliability, inter-rater retest reliability, expert-novice reliability and internal consistency. This instrument, therefore, proves promising as a tool for competency-based evaluations.


Saaiq M.,Pakistan Institute of Medical science PIMS | Zaib S.,Pakistan Institute of Medical science PIMS | Ahmad S.,Pakistan Institute of Medical science PIMS
Annals of Burns and Fire Disasters | Year: 2012

This brief report highlights three cases of iatrogenic electrocautery burns with review of the relevant published literature. The aim is to prompt awareness among surgeons and theatre staff regarding this avoidable hazard associated with the equipment frequently used for the purpose of electrocautery. This may serve as a reminder to professionals to be cautious about the pitfalls that lead to such preventable injuries.


Khan T.N.,National Institute for Biotechnology and Genetic Engineering NIBGE | Klar J.,Uppsala University | Tariq M.,National Institute for Biotechnology and Genetic Engineering NIBGE | Anjum Baig S.,Childrens Hospital | And 4 more authors.
European Journal of Human Genetics | Year: 2014

Hereditary spastic paraplegias (HSPs) comprise a heterogeneous group of disorders characterized by progressive spasticity and weakness of the lower limbs. Autosomal dominant and 'pure' forms of HSP account for ∼80% of cases in Western societies of whom 10% carry atlastin-1 (ATL1) gene mutations. We report on a large consanguineous family segregating six members with early onset HSP. The pedigree was compatible with both autosomal dominant and autosomal recessive inheritance. Whole-exome sequencing and segregation analysis revealed a homozygous novel missense variant c.353G>A, p.(Arg118Gln) in ATL1 in all six affected family members. Seven heterozygous carriers, five females and two males, showed no clinical signs of HSP with the exception of sub-clinically reduced vibration sensation in one adult female. Our combined findings show that homozygosity for the ATL1 missense variant remains the only plausible cause of HSP, whereas heterozygous carriers are asymptomatic. This apparent autosomal recessive inheritance adds to the clinical complexity of spastic paraplegia 3A and calls for caution using directed genetic screening in HSP. © 2014 Macmillan Publishers Limited All rights reserved.


Iqbal T.,Pakistan Institute of Medical science PIMS | Saaiq M.,Pakistan Institute of Medical science PIMS
Journal of the College of Physicians and Surgeons Pakistan | Year: 2011

Objective: To determine the epidemiologic pattern and outcome of childhood burns by finding the presenting features of the burn victims, causes / circumstances of burn injury, involvement of body area, need for hospitalization, duration of hospital stay and mortality. Study Design: Case series. Place and Duration of Study: The Burns Care Centre (BCC), Pakistan Institute of Medical Sciences (PIMS), Islamabad, from January 2008 to June 2010. Methodology: All children of either gender with burn injuries who were managed at the centre after primarily presenting to the study centre were included. Children over 15 years were excluded. Lund and Browder chart was used to calculate the total body surface area (TBSA) burnt. Children with extensive and critical burns, high voltage electric burns and those needing any surgical interventions were admitted for indoor management. Data were recorded on a proforma. Results: A total of 1725 children were included in the study. Out of those, 66.84% (n=1153) were males and 33.15% (n=572) were females. The mean age was 5.04 ± 2.78 years. Majority (67.47%) of children were aged 3-6 years. Scalds were the commonest burns (70.31%). Household environment was the commonest site of acquisition of burns (91.47%). Winter was the most frequent season of sustaining burn injury (63%). The commonest anatomic regions affected were hands / upper limbs (65.68%). Overall the affected mean TBSA was 9.37±9.61 %, while for the hospitalized children it was 27.07 ± 10.84%. Two hundred and ninety seven children (17.21%) were admitted. The mean hospital stay was 15.59±5.61 days. The mortality rate was 9.09% for the hospitalized children and 1.56% for the entire study sample. Conclusion: Male gender, age of 3-6 years and winter season were found to have an increased frequency of childhood burns. Scalds were the commonest type of injuries, and hands/upper limbs were the most frequently affected body parts. There is a need to revisit the health care system and institute focused burn prevention strategies consistent with our local circumstances.


Saaiq M.,Pakistan Institute of Medical science PIMS | Zaib S.,Pakistan Institute of Medical science PIMS | Ahmad S.,Pakistan Institute of Medical science PIMS
Annals of Burns and Fire Disasters | Year: 2012

A study was carried out regarding 213 patients of either gender and all ages who presented with post-burn contractures. The commonest site of contracture was the neck. 92 patients (43.19%) had received their initial burn injury management in general surgery units in tertiary care hospitals compared to 43 patients (20.18%) in district headquarter hospitals. Only 26 patients (12.20%) were managed in plastic surgery/burn wards, and 52 patients (24.41%) received no regular treatment from any hospital. The majority of patients (n=197) had a history of conservative management, with only 16 patients (7.51%) having a split thickness skin graft for part of their initial burns. None of the patients had the appropriate anti-deformity splintage in the affected parts or any physiotherapy during the acute phase of their burns.


Butt Z.,Pakistan Institute of Medical science PIMS | Hyder Q.,Pakistan Institute of Medical science PIMS
Journal of the Pakistan Medical Association | Year: 2010

Objective: To determine the role of risk factors, which promote cholelithasis in Hepatic Cirrhosis (HC). Methods: A prospective study was conducted on indoor cases with advanced HC. Outpatients with compensated Chronic Liver Disease were used as control. The subjects with history of cholecystectomy and diabetes mellitus were excluded from the study. Conventional ultrasound was used for the detection of gallstones, ascites and portal hypertension. Sonography also furnished pertinent information about the portal vein diameter, size of the spleen, gallbladder wall thickness and echogenecity of the liver. Results: The number of registered cases was 206: (age: 30-85 years): 121 (58.7%) males and 85 (41.3%) females. Hepatitis C (HCV) was the cause of HC in 187 (90.88%) cases. Of 50 (24.30%) patients with detectable gallstones, 27(54.00%) were males. We observed correlation of several risk factors with cholelithasis in our patients (n=50): advanced age: mean 57.3 ± 9.7 years (100%); prolonged duration of HC: 3.5 years (100%); Child -Pughs' class C: 34 (68%); increased thickness of gallbladder wall: 45 (90%); gross ascites: 39 (78%); splenic enlargement: 17.3cm (100%); increased portal vein diameter: 13.4mm (100%). The results were statistically significant when compared with the control group (p=<0,001). Conclusion: Gallstones tend to occur more frequently in patients with decompensated CLD due to interaction of several risk factors in these patients (JPMA 60:641; 2010).


Saaiq M.,Pakistan Institute of Medical science PIMS
Journal of Burn Care and Research | Year: 2016

To describe the epidemiologic profile of children sustaining electrical burn injuries and assess the outcome in terms of need for amputations, hospitalization, and the associated in-hospital mortality. This case series study was performed over a 5-year period (January 2008 to December 2012) at the Department of Plastic surgery and Burn Care Centre, Pakistan Institute of Medical Sciences (PIMS), Islamabad. All children of either gender up to 15 years of age were included. They were admitted for indoor management with standard burn care protocols. The demographic profile of the child, injury characteristics, and outcome were recorded and the data analyzed statistically. Of 85 children who presented with electrical burn injuries during the study period, 89.41% (n = 76) were males and 10.58% (n = 9) were females. The age ranged from 1 to 15 years with a mean age of 10.47 ± 4.09 years. High-voltage burns were the commonest type (n = 61; 71.76%). There were 35 major limb amputations. The mean hospital stay was 6.78 ± 5.01 days (range 1-25 days). The mortality rate was 2.35%. Male children aged 10 to 15 years are the most frequent victims of electric burn injuries, and high-voltage injuries constitute the commonest form of these injuries. There is associated considerable morbidity due to inevitable major amputations of the limbs among otherwise healthy children. There is dire need for primary prevention. Copyright © 2014 by the American Burn Association 1559-047X/2014.


Iqbal T.,Pakistan Institute of Medical science PIMS | Saaiq M.,Pakistan Institute of Medical science PIMS | Ali Z.,Pakistan Institute of Medical science PIMS
Burns | Year: 2013

This study aims to document the epidemiologic pattern and outcome of burn injuries in the country's first national burn centre. This case series study was conducted over a 2-year period at Burns Care Centre (BCC), Pakistan Institute of Medical Sciences (PIMS), Islamabad. The study included all burn injury patients who primarily presented to and were managed at the centre. Those patients who presented more than 24 h after injury or those who were initially managed at some other hospital were excluded from the study. Initial assessment and diagnosis was made by thorough history, physical examination and necessary investigations. Patients with major burns, high voltage electric burns and those needing any surgical interventions were admitted for indoor management. Patients with minor burns were discharged home after necessary emergency management, home medication and follow-up advice. The sociodemographic profile of the patients, site of sustaining burn injury, type and extent (total body surface area (TBSA), skin thickness involved and associated inhalational injury) of burn and outcome in terms of survival or mortality, etc., were all recorded on a proforma. The data were subjected to statistical analysis. Out of a total of 13,295 patients, there were 7503 (56.43%) males and 5792 (43.56%) females. The mean age for adults was 33.63 ± 10.76 years and for children it was 6.71 ± 3.47 years. The household environment constituted the commonest site of burns (68%). Among all age groups and both genders, scalds were the commonest burns (42.48%), followed by flame burns (39%) and electrical burns (9.96%). The affected mean TBSA was 10.64 ± 11.45% overall, while for the hospitalised subset of patients the mean TBSA was 38.04 ± 15.18%. Most of the burns were partial thickness (67%). Inhalation injury was found among 149 (1.12%) patients. Most of the burns were non-intentional and only 96 (0.72%) were intentional. A total of 1405 patients (10.58%) were admitted while the remainder 11890 patients (89.43%) were managed on an outdoor basis. The mean hospital stay was 12.16 ± 6.07 days (range 2-73 days). There were 197 deaths among the hospitalised patients constituting a 14% mortality rate for the hospitalised subset of patients, while there was an overall mortality rate of 1.48% for the entire study population. © 2012 Elsevier Ltd and ISBI.

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