31 results match your criteria: "Pakistan Institute of Medical Sciences Islamabad[Affiliation]"

Article Synopsis
  • Inborn errors of immunity (IEI) are genetic problems that hurt the immune system, leading to various health issues, and are becoming more common in Pakistan, especially in families that marry within themselves.
  • This study specifically looks at two serious types of IEI: severe combined immunodeficiency (SCID), which causes dangerous health problems right after birth, and leukocyte adhesion deficiency type 1 (LAD1), which makes people more prone to infections.
  • Researchers used special tests to study the immune systems of six families and found several genetic changes linked to these immune disorders; this could help doctors diagnose and treat patients better in the future.
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Background: Intussusception with intestinal malrotation is termed as Waugh's syndrome. The incidence of Waugh's syndrome is less than 1%. There are very few reported cases.

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The study aimed to evaluate the effectiveness of sweet basil leaf powder as a natural source of iron for the treatment of anemia in adolescent girls. Purposive sampling technique of two-stage sampling; part of the nonprobability sampling approach. Out of 2400 approached adolescent girls, 1645 agreed to participate and their nutritional status was assessed.

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Objectives: In this comprehensive study spanning 33 malignancies, we explored the differential expression and prognostic significance of Heparan sulfate 6-O-sulfotransferase 2 (HS6ST2).

Methods: TIMER2, UALCAN, and GEPIA2 were used for the expression analysis. cBioPortal was used for mutational analysis.

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Background: Preventing tooth loss is of utmost importance in maintaining optimal mastication, phonation, and aesthetics. Most commonly, pulpitis occurs as a result of caries, while trauma less frequently causes it. In both cases, it can lead to unbearable pain.

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Background: For thousands of years human beings have been using heat as a source of ligature and to treat the wound either it's from the trauma or fought in the wars. In 1854 an imminent surgeon Albrecht Theodor Middendorf published a paper on the application of electrocautery in surgical operations. The objective of the present study was to analyze the hazards of surgical smoke inhalation in Paediatric Surgery residents and to create awareness of its signs and symptoms, risk factors and utilizing preventive measures.

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Article Synopsis
  • Aerodigestive foreign bodies are a significant health concern for preschool-aged children, leading to high rates of illness and potential death globally.
  • A study at a children's hospital analyzed data from 108 kids suspected of ingesting or inhaling foreign objects over two years, finding that most cases involved preschoolers, predominantly males, and coins were the most common item ingested.
  • Early detection and treatment of foreign body ingestion or aspiration are crucial, as complications can be serious and life-threatening, often necessitating endoscopic removal once confirmed.
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Phyllodes tumour (PT) comprises 0.3-1% of all breast cancers and 3% of fibroepithelial neoplasm. It occurs more commonly in the fourth and fifth decades of life.

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Background: Severe Combined Immunodeficiency (SCID) is an autosomal recessive inborn error of immunity (IEI) characterized by recurrent chest and gastrointestinal (GI) infections and in some cases associated with life-threatening disorders.

Methodology And Results: This current study aims to unwind the molecular etiology of SCID and also extended the patients' phenotype associated with identified particular variants. Herein, we present 06 disease-causing variants identified in 07 SCID-patients in three different SCID related genes.

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Background: Increased epidermal growth factor receptor (EGFR) expression has been implicated in several tumors and is associated with increased tumor advancement as well as a potential drug target. The objective of the study was to compare the immunohistochemical expression of EGFR in oral squamous cell carcinoma (OSCC) with oral potentially malignant disorders (OPMDs) and their demographic and pathologic parameters.

Methods: This study was a comparative cross-sectional analytical study.

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A 1-year-old girl presented with an overly enlarged head for 5 months. Negligence of parents regarding treatment for this enlarged head is concerning. Early treatment can avoid a lot of complications.

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Hyperostosis frontalis interna is a benign overgrowth of the inner table of the frontal bone. Exact etiology is unknown. The condition is often an incidental finding and requires no treatment unless there are neurological signs and symptoms.

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With the emergence of the largest randomized control trial to date-the Stroke Protection With Sentinel During Transcatheter Aortic Valve Replacement (PROTECTED TAVR) study-we sought to conduct an updated meta-analyses to evaluate the utility of CEP devices on both clinical outcomes and neuroimaging parameters. Electronic databases were queried through November 2022 for clinical trials comparing the utility of Cerebral Embolic Protection (CEP) devices in Transcatheter Aortic Valve Replacement (TAVR) with non-CEP TAVR procedures. Meta-analyses were performed using the generic inverse variance technique, and a random-effects model, and results are presented as weighted mean differences (WMD) for continuous outcomes, and hazard ratios (HR) for dichotomous outcomes.

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A 24-year-old right-handed male presented with a 4-month history of migraine of weariness. Typical accompanying symptoms with migraine like nausea, vomiting, photophobia and aura were not present. Non-contrast CT brain revealed a left sided large frontotemporoparietal (Galassi Type III) arachnoid cyst.

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Current thrombolytic therapies for deep venous thrombosis are limited due to the wide side effect profile. Contrast mediated sonothrombolysis is a promising approach for thrombus treatment. The current study examines the effectiveness of streptokinase (SK) loaded phase-change nanodroplet (PCND) mediated sonothrombolysis at 7 MHz for the diagnosis of deep venous thrombosis.

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A minor head injury can cause traumatic subdural effusion in a child. They often present to pediatric emergencies initially, and there is a delayed referral to neurosurgery. In the emergency room, they should undergo subdural effusion needle aspiration, which can result in an immediate improvement in GCS.

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Background: To evaluate the prevalence of gustatory and olfactory impairment and its correlation with the severity of SARS-Cov-2 infection as per WHO guidelines.

Methods: A total of 241 patients of both gender having age from 15-80 years were included in the study. It was cross Sectional study conducted at SARS-COV-2 Isolation wards of Pakistan institute of medical science Islamabad from 15thSeptember 2020 to 15th January 2021.

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Background: Hereditary hypertrichosis (HH) is characterized by excessive hair growth on various body areas, which is independent of the individual's age. This rare hair disorder has been classified by its origin (genetic or acquired), age of onset, breadth of hair distribution (universal or localized) and the affected body areas. HH is often linked to several additional congenital abnormalities involving teeth, heart and bones.

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Background: Breast cancer is the most common malignancy worldwide. Surgical treatment of axilla is a part of treatment of locally advanced breast cancer. Conventional knot tying plus electrocautery and advanced compressive energy sources are used to reduce the continued axillary serous fluid discharge when drains are in place and seroma formation afterwards.

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Background: Sudden sensorineural hearing loss (SSNHL) is considered an otologic emergency globally. Aetiology is unknown in most cases but still the disease is believed to be caused by inflammation of the cochlea; therefore, steroids are considered beneficial due to their anti-inflammatory effect.

Methods: This study was conducted on 62 patients of sudden sensorineural hearing loss (SSNHL) in Ayub Medical Complex, Abbottabad.

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Background: Single nucleotide polymorphism underlying the auto-immune process governing the pathologic manifestations of rheumatoid arthritis has been the focus of study for quite a while. TNF-alpha -308 G/A promoter polymorphism have been reported to be responsible for a number of manifestations of rheumatoid arthritis.

Methods: This case-control study was conducted at the department of Rheumatology at Pakistan Institute of Medical Sciences Islamabad from 9th May to 9th August 2019 with a focus to determine the Association of tumour necrosis factor-alpha -308 G/A promoter polymorphism with susceptibility and disease profile of rheumatoid arthritis.

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Background: Conservative management of traumatic CSF rhinorrhoea is associated with a greater risk of developing meningitis in the presence of active CSF leak. Lumbar drains have been reported to be better than conservative management alone in stopping CSF leaks following traumatic brain injury.

Methods: This randomized controlled trial enrolled 60 patients with CSF rhinorrhoea and divided them into two groups.

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FAS/FASL signaling system plays a vital role in the regulation of apoptosis, envisaged as a death process required for immune surveillance to prevent autoimmunity and tumorigenesis along with several other biological activities. Several single-nucleotide polymorphisms (SNPs) of FAS/FASL system can result in aberrant apoptosis, which can cause different cancers and autoimmune diseases. Aplastic anemia (AA) is an autoimmune dysfunction characterized by peripheral blood pancytopenia associated with hypoplasia of bone marrow.

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Background: Diabetes affects almost every system including mental health. When depression and diabetes coexist, the outcome is even worse. This study was conducted to find the prevalence of comorbid depression in diabetic patients and its association with diabetic control.

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Upregulation of RAD51 expression is associated with progression of thyroid carcinoma.

Exp Mol Pathol

June 2017

Cancer Genetics and Epigenetics Lab, Department of Biosciences, COMSATS Institute of Information Technology Islamabad, Pakistan. Electronic address:

Aims: RAD51 participates in homologous recombination repair (HRR) of double-stranded DNA breaks (DSBs) which may cause genomic instability and cancer. The aim of this study was to investigate RAD51 gene expression at transcriptional and translational levels to measure mRNA and protein level and to correlate its relationship with proliferation marker, Ki67 in thyroid cancer patients. This study also explored correlation of these genes with different clinicopathological parameters of the study cohort by Spearman's rank correlation coefficient.

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