Mitochondrial protein synthesis requires three elongation factors including EF-Tu (TUFM; OMIM 602389), EF-Ts (TSFM; OMIM 604723), and EF-G1 (GFM1; OMIM 606639). Pathogenic variants in any of these three members result in defective mitochondrial translation which can impart an oxidative phosphorylation (OXPHOS) deficiency. In this study, we investigated a consanguineous Pakhtun Pakistani family. There were four affected siblings at the time of this study and one affected girl had died in infancy. The index patient had severe intellectual disability, global developmental delay, dystonia, no speech development, feeding difficulties, and nystagmus. MRI brain presented thinning of corpus callosum and polymicrogyria. Whole exome sequencing revealed a novel compound heterozygous variant in GFM1 located on chromosome 3q25.32. Sanger sequencing confirmed recessive segregation of the maternal (NM_001308164.1:c.409G > A; p.Val137Met) and paternal (NM_001308164.1:c.1880G > A; p.Arg627Gln) variants in all the four affected siblings. These variants are classified as "likely-pathogenic" according to the recommendation of ACMG/AMP guideline. GFM1 alterations mostly lead to severe phenotypes and the patients may die in early neonatal life; however, four of the affected siblings had survived till the ages of 10-17 years, without developing any life-threatening conditions. Mostly, in cousin marriages, the pathogenic variants are identical-by-descent, and affected siblings born to such parents are homozygous. Three homozygous variants were shortlisted in the analysis of the WES data, but Sanger sequencing did not confirm their segregation with the disease phenotype. This is the first report from Pakistan expanding pathogenicity of GFM1 gene.
Purpose: The purpose of this study was to assess the knowledge of the radiology personnel regarding contrast media used in radiology and the management of associated adverse drug reactions. Methods: A questionnaire-based cross-sectional study was conducted from 21 February to 31 March 2019 in five major hospitals of Peshawar, Pakistan. A 30-item questionnaire was adopted from the existing literature containing both open and closed-ended questions and the authors conducted a pilot study among 25 participants to assess the face validity of the tool. A universal sampling technique was adopted. Descriptive statistics were used to summarize the findings of the study. Results: Less than half of the participants could correctly classify iodinated contrast media used in radiology on the basis of ionicity and osmolaity. Sixty-three percent chose severe contrast material-induced allergic reaction as type I hypersensitivity reaction while almost half of them correctly identified the features of iodinated contrast media associated with lesser side effects. Very few of them (6.7%) had read the ACR 2018 manual on contrast media. Regarding the risk factors for acute adverse reactions and signs/symptoms of anaphylaxis few could answer satisfactorily. Twenty-eight percent of participants correctly identified epinephrine as the initial medication in an anaphylactic reaction. Regarding the preferred route of administration, concentration and dose of epinephrine, the participants’ correct response was quite poor (43.8%, 6.7%, and 8.6%, respectively). More than 65% of participants could name a single intravenous corticosteroid and antihistamine. Conclusion: Radiology personnel’s knowledge regarding contrast material and management of severe contrast material-induced allergic reactions is unsatisfactory.
OBJECTIVESTo assess the usefulness of Tri-phasic computed tomography in the evaluation of hepatocellular carcinoma in cirrhotic patients.METHODOLOGYThis cross-sectional study was carried out in the Radiology and Imaging Department of Hayatabad Medical Complex Peshawar from October 2020 to September 2021 (01 year). Tri-phasic CT was done in all patients. Patients with suspected hepatocellular carcinoma diagnosed by clinical and ultrasonography and having high serum α-fetoprotein levels were enrolled in the study.RESULTSMalignant cases on tri-phasic CT were 120(82.8%) while benign cases were 25 (17.2%) Fig -I. In malignant tumor cases, 99(82.5%) patients had hepatocellular carcinoma (HCC), 13(10.8%) had metastases and 8(6.7%) had dysplastic nodule respectively. In benign tumour cases, 15(60%) had regenerative nodules, 6(24%) had hepatic adenoma and 4 (16%) had haemangioma. Tri -phasic CT as a tool in the diagnosis of hepatocellular carcinoma in cirrhotic patients showed a sensitivity of 96.8%, specificity of 79.7%, the accuracy of 95%, positive predictive values of 96.2% and negative predictive values of 88.1%.CONCLUSIONTri-Phasic CT can be an ideal diagnostic tool for detecting as well as characterizing hepatocellular carcinoma in cirrhotic patients.
Background: New-onset seizure can be potential life threatening condition. It raises the suspicion of intracranial abnormality or a primary epilepsy .These are mostly diagnosed and differentiated clinically, however diagnostic imaging has important role in evaluating the cause of seizure . Previously studies done on neuroimaging in seizures have mostly focused on assessment of seizures in children or adults in acute emergency however this study focused on new onset seizures in adults .Magnetic Resonance Imaging (MRI) is readily available in tertiary care hospitals these days and is important diagnostic modality for evaluating the causes of new-onset seizure in adults. Aims and Objectives: The purpose of this study was to discuss the magnetic resonance imaging finding in adult patients presenting with new-onset seizure and if the MRI established the cause for the patient's new onset seizure Methods: This was prospective cross sectional study done in 330 adult patients above age of 18 year who presented with new-onset seizures from May 2020 to April 2021. These patients were referred to Radiology department Hayatabad Medical Complex to evaluate intracranial abnormality and to find out the cause of seizure. MRI brain was performed on 1.5T machine and images were independently reviewed by two consultant Radiologists. The findings were summarized and categorized into a study database. Results: In our study 330 adults presenting with new onset seizures underwent MRI within 48 hours of seizure . The mean age was 47 yrs . MRI determined the cause of new-onset seizure in 139 (42.1%) patients while 191(57.9%) studies were normal.. The most common findings were encephalomalacia with gliosis related to previous trauma ,chronic infarcts and surgery ( 38.1%),primary/metastatic brain tumour (24.4%), infectious encephalitis and meningitis(15.8 %), venous sinus thrombosis (8.6%), while and PRESS(7.2%) and vascular malformation(5.7%) were less common findings, . Patients with focal seizures had a higher proportion of potentially epileptogenic lesions (64.7%) compared with those with seizures of generalized onset (10.8%) or uncertain type (24.6%) Conclusion: This study emphasizes the importance of magnetic resonanace imaging in adults presenting with acute seizures and its usefulness in determining the epileptogenic lesions and helps in planning the treatment strategy. Keywords: Seizures, Magnetic resonance imaging, Intracranial abnormality.
Tuberculosis is the very communal infection found globally and can nearly all parts of the human body can be affected by it, mostly affect the chest. Among the tuberculosis of the skeletal system; 50% of cases affect the spinal cord. Tuberculosis infection of the spinal cord results in Gibbus deformity, edema, involvement of intervertebral discs, epidural abscess, paravertebral abscess and edema with bone destruction and vertebrae collapse in the soft tissue planes. The most valuable diagnostic tool is MRI as it can clearly show all of the above results in the spine tuberculosis affected patients. Aim: The objective of this research was to know the pattern of incidence and to analyzed the several Pott’s spine pathological processes by means of the MRI scan. Study Design: A Retrospective study. Place and Duration: In the Radiology Department of HMC Peshawar and Orthopedic Department of BKMC Swabi from August 2021 to January 2022. Methods: This study analyzed MRI scans of 90 identified patients of spinal tuberculosis performed at the Radiology Department to govern the pattern of the several pathological lesions. Results: This study institute Pott's spine to be more common in the 21-50 age group, mostly among men. The lumbar and dorsal vertebrae are often affected and several vertebrae are affected frequently, with the most common affected is the L3 vertebra. The involvement of Intervertebral disc and para and pre-vertebral collections were communal, with epidural collection happening in > 75 of patients. 13.3% of the patients have cord oedema. Conclusions: MRI is very sensitive in detecting various Potts spine pathological processes, and the occurrence patterns of these findings were assessed in this research. As the prevalence and incidence of tuberculosis depends on several sensitive epidemiologically parameters, this research could deliver a standard conclusion against which further results could be compared in future studies. Keywords: Tuberculous spondylitis, lumbar abscess, Gibbus
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