Publications by authors named "Ayesha Imtiaz"

A community-based, cluster non-randomized controlled trial was conducted in Kurram district, Pakistan between January 2018 to December 2020. Age-appropriate lipid-based nutrient supplements and health education (sessions conducted in the households) were given to pregnant women and their born children (6-23 months) in the intervention arm (n = 40 clusters) versus health education only in the control arm (n = 40 clusters) to evaluate its effect on child development. The first and second developmental assessments were completed at ~24 months (n = 689) and ~32 months (n = 608), respectively, using the Caregiver-Reported Early Development Instrument Long form.

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Unlabelled: Short and long-term sound-induced stress on daily basis can affect the physiology of avian individuals because they are more susceptible to sound stress in an open environment.

Objectives: An ex-situ study was carried out to determine the impact of noise on physiology and ptilochronology of non-breeding male domesticated quail birds.

Methodology: During 60-days long trial, male quail birds, aged 5-weeks, weighing (c.

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Lung cancer is the third most common cancer in the United States. Lung adenocarcinoma is a subtype of non-small cell lung cancer. On computed tomography (CT) it can appear as ground glass nodules, consolidative opacity, or solid mass lesions located in the periphery.

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Prostate cancer is common cancer that grows slowly and tends to metastasize to bones, lungs, and the liver. Most malignancies have established patterns in presentation, localization, and organs where they metastasize. We are presenting a case of a 60-year-old man who presented with abdominal pain and, on further investigation, was found to have polyps in the colon, a flat rectal mass with eccentric thickening of the rectum, a moderately enlarged prostate, and multiple liver masses suggestive of metastasis.

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Background: Pediatric burn injury is a traumatic experience for affected children and their families. Burn pain is frequently undertreated and may adversely affect patient experience and outcomes. The aim of this study was to investigate the current practice of initial pediatric burn pain assessment and management at a major trauma center in Riyadh, Kingdom of Saudi Arabia.

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Drug-induced fever is a significant adverse effect as many commonly used medications can cause this. The incidence of drug fever is even higher in critical care settings because multiple medications are being administered simultaneously. This poses a serious problem in critical care settings as any new fever in these settings also implies any new infection or worsening of preexisting conditions.

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Myxomas are benign tumors of mesenchymal origin, containing a few pluripotent cells in the myxomatous stroma. They usually present at 30-40 years of age and are more common in females than males. These tumors mostly arise in the atria and protrude into the atrial lumen.

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Autosomal recessive non-syndromic hearing loss (ARNSHL) is the most common hereditary deafness. It is genetically highly heterogeneous and about 89 gene loci and 76 gene's mutations have been implicated in the etiology of ARNSHL. Molecular basis of ARNSHL remains unresolved in 60% of cases and gene mutations are unknown for 23 of 89 reported loci.

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Gallbladder hydrops or mucocele is usually due to the obstruction of the gallbladder by a gallstone. It is usually characterized by an increase in gallbladder volume, which remains clinically silent and is often incidentally diagnosed during exploratory laparotomy or laparoscopy. We report a rare case of acute calculous cholecystitis with gallbladder hydrops (measuring 17 cm in maximum dimension) due to the obstruction of the cystic duct by a gallstone in a 67-year-old female.

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Hereditary deafness is clinically and genetically heterogeneous. We investigated deafness segregating as a recessive trait in two families. Audiological examinations revealed an asymmetric mild to profound hearing loss with childhood or adolescent onset.

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Objective: To compare the disk susceptibility pattern of healthcare acquired carbapenem-resistant enterobacteraceae with that of community-acquired isolates and their associated clinical presentations.

Methods: The cross-sectional study was conducted at the Department of Microbiology, Combined Military Hospital, and the Institute of Dentistry, Lahore, Pakistan, from November 2017 to July 2018. Patients with positive carbapenem-resistant enterobacteraceae cultures from clinical specimens were included.

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Background: The northern part of the province of Khyber Pakhtunkhwa in Pakistan experienced armed conflict since September 2007 till the autumn of 2011. Conflict involved widespread insurgency activity and military intervention including in 2009 internally displacing the 2.5 million people of the valley of Swat to live in camps, with relatives, or in rented accommodation across the region for approximately 4 months.

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TRIOBP remodels the cytoskeleton by forming unusually dense F-actin bundles and is implicated in human cancer, schizophrenia, and deafness. Mutations ablating human and mouse TRIOBP-4 and TRIOBP-5 isoforms are associated with profound deafness, as inner ear mechanosensory hair cells degenerate after stereocilia rootlets fail to develop. However, the mechanisms regulating formation of stereocilia rootlets by each TRIOBP isoform remain unknown.

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Consanguineous Pakistani pedigrees segregating deafness have contributed decisively to the discovery of 31 of the 68 genes associated with nonsyndromic autosomal recessive hearing loss (HL) worldwide. In this study, we utilized genome-wide genotyping, Sanger and exome sequencing to identify 163 DNA variants in 41 previously reported HL genes segregating in 321 Pakistani families. Of these, 70 (42.

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The Cell Division-Cycle-14 gene encodes a dual-specificity phosphatase necessary in yeast for exit from mitosis. Numerous disparate roles of vertebrate Cell Division-Cycle-14 (CDC14A) have been proposed largely based on studies of cultured cancer cells in vitro. The in vivo functions of vertebrate CDC14A are largely unknown.

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Background: Public Private Partnership has been experimented as an approach in Pakistan in 2005 and in eighteen districts of Khyber Pakhtunkhwa including Abbottabad in 2011, to improve delivery of maternal and child health services. This study was conducted to assess the utilization of maternal and child health services before and after implementation of Public Private Partnership in district Abbottabad.

Methods: A cross sectional study was conducted in district Abbottabad from July to December 2014.

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The genetic underpinnings of recessively inherited moderate to severe sensorineural hearing loss are not well understood, despite its higher prevalence in comparison to profound deafness. We recruited 92 consanguineous families segregating stable or progressive, recessively inherited moderate or severe hearing loss. We utilized homozygosity mapping, Sanger sequencing, targeted capture of known deafness genes with massively parallel sequencing and whole exome sequencing to identify the molecular basis of hearing loss in these families.

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Deafness in humans is a common neurosensory disorder and is genetically heterogeneous. Across diverse ethnic groups, mutations of MYO15A at the DFNB3 locus appear to be the third or fourth most common cause of autosomal-recessive, nonsyndromic deafness. In 49 of the 67 exons of MYO15A, there are currently 192 recessive mutations identified, including 14 novel mutations reported here.

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TMC1 encodes a protein required for the normal function of mechanically activated channels that enable sensory transduction in auditory and vestibular hair cells. TMC1 protein is localized at the tips of the hair cell stereocilia, the site of conventional mechanotransduction. In many populations, loss-of-function recessive mutations of TMC1 are associated with profound deafness across all frequencies tested.

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Background: Hearing loss is a heterogeneous neurosensory disorder. Mutations of 56 genes are reported to cause recessively inherited non-syndromic deafness.

Objective: We sought to identify the genetic lesion causing hearing loss segregating in a large consanguineous Pakistani family.

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Mutations of GJB2 which encode connexin 26, contribute to 6-7 % of profound deafness in Pakistan. We investigated the involvement of GJB2 mutations in a cohort of 84 pedigrees and 86 sporadic individuals with moderate or severe hearing loss. Individuals in eight consanguineous families and four sporadic cases (9.

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More than 360 million humans are affected with some degree of hearing loss, either early or later in life. A genetic cause for the disorder is present in a majority of the cases. We mapped a locus (DFNB101) for hearing loss in humans to chromosome 5q in a consanguineous Pakistani family.

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Calcium oxide (CaO) nanoparticles are known to exhibit unique property due to their high adsorption capacity and good catalytic activity. In this work the CaO nanocatalysts were prepared by hydrothermal method using anionic surfactant, sodium dodecyl sulphate (SDS), as a templating agent. The as-synthesized nanocatalysts were further used as substrate for the synthesis of alumina doped calcium oxide (Al2O3·CaO) nanocatalysts via deposition-precipitation method at the isoelectric point of CaO.

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The DFNB79 locus harbors TPRN mutations in which have been reported in a few families with deafness. Four frameshift mutations in TPRN have been described to cause severe or severe-to-profound hearing loss in Moroccan and Pakistani families, and a single frameshift mutation was associated with progressive hearing loss in deaf individuals in a Dutch family. We identified a Pakistani family in which the affected individuals were homozygous for a pathogenic mutation, c.

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Article Synopsis
  • Hearing loss is a common problem people can have, especially the type called ARNSHL, which is the most common inherited cause of deafness.
  • Finding the specific genes that cause this type of hearing loss can be difficult and takes a lot of time and money because there are many different genes to check.
  • The new method described in the text helps save time and money by focusing on fewer important markers and using a special technique called multiplexing to test multiple genes at once.
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