Pak J Med Sci
-
Shabbir Syndrome or commonly known as Laryngo-onycho-cutaneous syndrome (LOCS) is an autosomal recessively inherited syndrome, caused due to mutations in the laminin alpha-3 (LAMA3) gene. This syndrome affects the epidermal layer and results in granulation formation in the eyes, larynx, and nails. ⋯ But it is still considered a rare syndrome with limited cases reported worldwide. In this case report, we have discussed a case of a four year old, Pakistani boy, who presented with stridor, fragile skin, and granulation of nails, with no family history of LOCS.
-
Selective high-risk screening of children suspected of having inherited metabolic disorders was conducted jointly by Chemical Pathology section and the Pediatric Department of Indus Hospital and Health Network- (IHHN) from October 2020-March 2022. Tandem mass spectrometry (MS) for newborn screening was recently introduced in a local laboratory. We did a selective high screening of children for metabolic disorders by using MS for neonates and other relevant tests for older children in our hospital. The present study was undertaken to get an estimate of the number of metabolic cases screened and identified after inclusion of an extended workup. ⋯ In the present study, we were able to screen several children after inclusion of an extended metabolic workup. However, confirmation of many disorders like fatty acid oxidation defects, disorders of carbohydrate metabolism, and sphingolipidosis could not be done due to lack of confirmatory tests. We recommend that confirmatory tests of these disorders be included in local labs.
-
Pregnant women and the general public are both directly impacted by cirrhosis which is a chronic liver disease. It is also widely known that women who have a history of injectable drug use and cirrhosis are more prone to experience unfavorable consequences that have a negative impact on the health of both the mother and the unborn child. Higher maternal Hepatitis-C Virus (HCV) in pregnancy viral load, length of labor, use of amniocentesis or fetal scalp monitoring and protracted membrane rupture are all the risk of perinatal transmission of HCV in newborns. ⋯ Pregnancy-related immune alterations have a significant impact on the course of HCV infection throughout the third trimester and provide favorable circumstances for the spread of the virus. The exacerbation of hepatic damage during pregnancy and the postpartum period is mostly responsible for HCV-specific cell-mediated immune responses. An extensive literature search done via electronic search engine including Cochrane library databases, PubMed, Google Scholar, Science Direct and HCV in pregnancy articles were included.
-
The pre-analytical phase, encompassing all preparatory steps leading to the analytical process, represents a critical stage prone to laboratory errors. An assessment of the occurrence and categories of laboratory errors, specifically within the pre-analytical phase of laboratory procedures, can guide in taking timely actions for rectifying errors responsible for damage and loss of samples. This study aimed to assess the frequency and types of pre-analytical errors within a clinical laboratory at the Multan Institute of Kidney Diseases over two years. ⋯ The overall percentage of sample rejections in the laboratory was 0.67%. This study provided valuable insights into various reasons, and causes that require improvements to enhance the efficiency and quality of laboratory processes.
-
To investigate the levels of white blood cell count (WBC), procalcitonin (PCT), C-reactive protein (CRP) and erythrocyte sedimentation rate (ESR) in patients with acute community-acquired lower respiratory tract infections and the value of their combined detection in predicting the occurrence of complications. ⋯ The combined detection of WBC, PCT, CRP and ESR has substantial predictive value in predicting the occurrence of complications in patients with community-acquired lower respiratory tract infections.