Pakistan Journal of Medical Sciences最新文献

Objective: Recurrent laryngeal nerve (RLN) injury is a serious complication during thyroid reoperation. Intraoperative neuromonitoring (IONM) is one of the means to reduce RLN paralysis. However, the role of IONM during thyroidectomy is still controversial. The aim of this study was to assess whether the IONM could reduce the incidence of RLN injury during thyroid reoperation.

Methods: We performed a systematic review to identify studies in English language which were published between January 1, 2004, and March 25, 2023 from PubMed, EMBASE, and Cochrane Library, comparing the use of IONM and Visualization Alone (VA) during thyroid reoperation. The RLN injury rate was calculated in relation to the number of nerves at risk. All data were analyzed using Review Manger (version 5.3) software. The Cochran Q test (I² test) was used to test for heterogeneity. Odds ratios were estimated by fixed effects model or random effects model, according to the heterogeneity level.

Results: Eleven studies (3655 at-risk nerves) met criteria for inclusion. Data presented as odds ratio(OR) and their 95% confidence intervals(CI). Incidence of overall, temporary, and permanent RLN injury in IONM group were, respectively, 4.67%, 4.17%, and 2.39%, whereas for the VA group, they were 8.30%, 6.27%, and 2.88%. The summary OR of overall, temporary, and permanent RLN injury compared using IONM and VA were, respectively, 0.68 (95%CI 0.4-1.14, p=0.14), 0.82 (95%CI 0.39-1.72, p=0.60), and 0.62 (95%CI 0.4-0.96, p=0.03).

Conclusions: The presented data showed benefits of reducing permanent RLN injury by using IONM, but without statistical significance for temporary RLN injury.

Objective: To unravel the clinical and genetic specifications of Neuronal ceroid lipofuscinosis (NCL).

Methods: This is a retrospective cross-sectional study conducted in the Department of Pediatric Neurology Children Hospital and University of Child Health Sciences, Lahore, Pakistan from March 2017 to March 2022. The primary outcome was to measure genotype-phenotype correlation by segregation of phenotypes according to genotype. The secondary outcomes included a correlation between genotype and distribution of age(s) of onset.

Results: One hundred fifty three patients clinically diagnosed with NCL underwent genetic testing and pathologic mutation was identified in 32.7% of patients. About 59.6% were male and 37.2% had an affected sibling. The median age was 5.46±1.95 years at the onset of the first symptom i.e., myoclonic seizures in 68%, and motor difficulty in 24%. Other features found were global developmental delay (56%), hypotonia (23%), visual impairment (80%), ataxia (22%), and disc pallor (56%). The most common type was CLN6 (Ceroid lipofuscinosis neuronal) (42%), CLN2 (16%) followed by CLN7 (12%). When 50 patients with recognized mutations were compared with 103 patients with no mutation, family history (p=0.049), early visual loss (p=0.016), hypotonia (p=0.001), white matter signals (p=0.026) and pan-atrophy(p=0.047) was statistically significant in the genetically confirmed NCL. Multiple pairwise comparisons indicated that the estimated age of onset for the CLN1 and CLN2 mutation group was significantly lower than other genotypes including CLN6 (p 0.012), CLN10 (p 0.007) and CLN12 (p 0.007).

Conclusion: Following a detailed review of NCL symptomatology, a clinically-oriented approach should be used for a rapid diagnosis with confirmation by targeted molecular testing for future genetic counseling.

Objective: A report on the cross-cultural adaptation and validation process of the Rome IV Diagnostic Questionnaire for children aged four years and over into Saudi-Arabian Arabic for use in assessing the prevalence of functional gastrointestinal disorders in children in Saudi Arabia.

Method: A mixed-methods approach was used in translating the 60-item original English version of the questionnaire. The process included four steps followed by a cognitive debriefing and was guided by the Rome Foundation. The questionnaire was tested for practicability with 10 participants of children aged four years and older. The whole study took place between October 2020 and April 2021.

Results: The original questionnaire repeated information on areas of pain experienced by children, which did not show up in the backward, English, translation. The back-translated version occasionally provided medical expressions that were then explained between parentheses in plain English, for example, dyspepsia (burning feeling). The expert panel indicated that all questionnaire items reached the set 90% agreement level, confirming that the questionnaire is fully understandable and valid for use. Preliminary testing with 10 participants (four years and older) revealed functional constipation to have the highest prevalence among the participants (40%, n=4), followed by irritable bowel syndrome (20%) and abdominal migraine (20%).

Conclusion: This study provides a detailed report on the translation process of the tested ROME- IV Diagnostic Questionnaire for children aged four years and over into Saudi Arabic following Rome Foundation guidelines. The results of the preliminary test should encourage researchers and clinicians in Saudi Arabia to utilize the tool for non-invasive diagnosis of functional gastrointestinal disorders in children.

Background & objectives: Ataxia is usually caused by cerebellar pathology or a decrease in vestibular or proprioceptive afferent input to the cerebellum. It is characterized by uncoordinated walking, truncal instability, body or head tremors, uncontrolled coordination of the hands, dysarthria, and aberrant eye movements. The objective of the current investigation was to identify the underlying genetic cause of the hereditary ataxia that affects the Pakistani population.

Methods: We studied numerous consanguineous Pakistani families whose members had ataxia-related clinical symptoms to varying degrees. The families were chosen from the Punjab province, and the neurophysician conducted a clinical examination. Peripheral blood samples from both sick and healthy members of the family were taken after obtaining informed consent. Genomic DNA was used to find potential variations in probands using whole exome sequencing. The study was carried out at the University Hospital of Tübingen, Germany, and Government College University in Faisalabad, Pakistan, during 2018-2023.

Results: The molecular analysis of these families identified different variants including SGCB: c.902C>T, c.668G>A, ATM: c.6196_6197insGAA, SPG11: c.5769del, SETX c.5525_5533del, and ATM: c.7969A>T. A noteworthy mutation in ATM and SETX was observed among them, and its symptoms were shown to cause ataxia in these families.

Conclusion: The current study broadens the mutation spectrum of several hereditary ataxia types and suggests the next generation sequencing in conjunction with clinical research for a more accurate diagnosis of overlapping phenotypes of this disorder in the Pakistani population.

Objective: To validate and ascertain the reliability of the Orofacial Esthetic Scale specifically within the context of prosthodontic patients, aiming to establish it as a credible and standardized tool for evaluating orofacial esthetics in this specialized cohort.

Methods: The systematic analysis adhered to the guidelines outlined by the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA). A systematic search using four databases PubMed /Medline, Web of Science, Scopus, Science Direct along with manual and grey literature (ProQuest and Google scholar) till 30 October 2023 was performed. The risk of biasness was assessed using Joanna Briggs Institute (JBI) critical appraisal checklist followed by validity analysis. For meta-analysis, psychometric values (Cronbach alpha and Intra class correlation coefficient) were used through MedCalc software.

Results: The overall ICC value was 0.95 (95% CI: 0.94 to 0.96) and the overall Cronbach alpha value was 0.94 (95% CI: 0.92 to 0.96). There was evidence of high heterogeneity and no publication bias among the studies included.

Conclusion: This study underscores the pivotal role of orofacial esthetics in prosthodontic care, introducing the Orofacial Esthetic Scale as a validated tool to quantitatively assess subjective perceptions. This will highlight its potential for tailored treatment planning and improved patient outcomes.

Background & objectives: Genotypic identification of the etiologic agents of vaginal candidiasis (VC) is of significance in epidemiologic studies and in the establishment of adequate treatment protocol. The aim of this study was to determine the antifungal susceptibility and gene diversity of C. albicans isolated from a group of Jordanian women with VC.

Methods: A total of 312 isolates of candida species, recovered from women with vaginal candidiasis who attended gynecology clinics affiliated to three major private hospitals in Amman over a period of five months (July 2020 to December 2020) were included in this study. The isolated Candida were characterized by phenotypic and genotypic means. Genotypic studies were performed using specific PCR primers of the rDNA and RPS genes. Susceptibility testing of all C. albicans isolates was conducted following the National Committee for Clinical Laboratory Standards and E-test strips.

Results: Candida albicans was the most dominant Candida spp. that caused VC among the studied population. C. albicans isolates were found to be of three different subtypes at the 25S rDNA gene. All isolates belonged to genotypes A, B and C while genotypes D and E were not detected. The diversity of C. albicans was higher on the basis of RPS region where the use of two markers (P-I and P-II) resulted in the identification of nine distinct C. albicans subtypes. The sensitivity testing revealed variations in the susceptibility of various genotypes to different antifungal drugs. Genotype A isolates were more susceptible to fluconazole, flucytosine and ketoconazole than genotypes B and C.

Conclusion: Candida albicans incriminated as etiologic agents of vaginitis among Jordanian women exhibited relationship between various genotypes and antifungal drugs.

Objectives: This study aimed to investigate the effect of Environmental Pollutants Particulate Matter PM_2.5, PM₁₀, Carbon Monoxide (CO), Nitrogen Dioxide (NO₂), Sulfur Dioxide (SO₂), and Ozone (O₃) on lung airway inflammation by assessing the Fractional Exhaled Nitric Oxide (FeNO) in students studying in schools located in or away from air-polluted areas.

Methods: This matched case-control cross-sectional study was conducted in the Department of Physiology, College of Medicine, King Saud University, Riyadh, Saudi Arabia from August 2022 to July 2023. In this study, two schools were selected, one was located near a traffic-polluted area (School #1), and the second was located away from the traffic-polluted area (School #2). A total of 300 students were recruited, 150 (75 male and 75 female) students from the school located in a traffic-polluted area, and 150 students (75 male and 75 female) from the school located away from a traffic-polluted area. Environmental pollutants PM_2.5, PM₁₀, CO, NO₂, O₃, and SO₂, were recorded. The Fractional Exhaled Nitric Oxide (FeNO) was measured using a Niox Mino.

Results: The mean concentration of PM_2.5, PM₁₀, CO, NO₂, O₃, and SO₂ were 35.00±0.65 significantly higher in a school located in motor vehicle polluted area compared to a school located away from a motor vehicle-polluted area (29.95±0.32) (p=0.001). The mean values for FeNO were significantly higher (18.75±0.90) among students studying in a school located in the motor vehicle-polluted area compared to students studying in a school located away from the motor vehicle-polluted area (11.26±0.56) (p=0.001).

Conclusions: Environmental pollution can cause lung inflammation among students in schools located in traffic-polluted areas.

Objective: To explore impact of flood on breastfeeding practices and identify barriers in continuation of breastfeeding among mothers residing in flood relief camps.

Methods: This exploratory observational study was conducted during visit of medical team of The University of Child Health Sciences, Children's Hospital at flood relief camps of Sindh (7^th September to 12^th September, 2022) and south-west of Punjab province (18^th November to 20^th November, 2022). The data was collected on structured questionnaire from 40 lactating mothers residing in flood relief camps. Purposive sampling technique was used in this regard.

Results: The mean age of breastfed children was 16.1±7.811 months. There was negative impact on breastfeeding practices (n=21, 52.5%) as frequency decreased in 18(45%) mothers and 3(7.5%) totally stopped breastfeeding. There was significant relation between pre-flood breastfeeding status and impact of flood on breastfeeding practices (p=0.001). The major barriers to appropriate breastfeeding were mother's perception of insufficient breast milk due to inadequate diet (n=6, 15%) or depression and anxiety (n=4, 10%), mother's illness (n=3, 7.5%), constant displacement (n=2, 5%) and provision of breast milk substitutes (n=2, 5%).

Conclusion: There has been significant negative impact of flood on breastfeeding practices among lactating mothers residing in flood relief camps. Perception of decreased milk production due to inadequate diet and stress are major barriers in continuation of breastfeeding. Breastfeeding supportive services need to be integral component of flood crisis management.

This literature review explores breast cancer screening practices among transgender individuals globally, emphasizing the overlooked population in Pakistan. With an overview of intersex and transgender terminology, the study delves into screening guidelines for transfeminine and transmasculine patients, considering hormone therapy and surgery. Worldwide statistics on transgender and intersex populations are provided, highlighting the unique challenges they face, particularly in Pakistan, where societal discrimination and healthcare barriers persist. Databases searched included PubMed, Scopus, and Google Scholar from the Year 2000 till todate.The review synthesizes breast cancer screening recommendations in transgender population from ACR, WPATH, UCSF, and the Canadian Cancer Society, revealing variations in guidelines. It concludes with a call for tailored screening protocols for Pakistan's transgender community and recommends a comprehensive study due to the absence of data in Southeast Asia. The unstructured abstract underscores the need for nuanced, personalized screening strategies and emphasizes the critical gap in knowledge specific to breast cancer in this marginalized population.

Objective: To analyze the characteristics of deliberate drug ingestion in adolescents and its related influencing factors.

Method: This was a retrospective study. A total of 158 cases of deliberate drug ingestion as observation group and 160 cases of other diseases in adolescents as control group were treated in the Emergency Department of Baoding Hospital of Beijing Children's Hospital Affiliated to Capital Medical University from January 2020 to December 2022. The clinical characteristics of adolescents who engaged in deliberate drug ingestion were analyzed, and various factors that could potentially influence deliberate drug ingestion in adolescents were subjected to both univariate and multivariate analysis.

Result: There was a progressive increase in the number of patients presenting with mental health issues year by year. Univariate analysis showed that family type, guardian's education level, place of residence, whether they were only children, parents' knowledge of medication, awareness of medication safety, depression/anxiety, negative life events, and social support were risk factors for deliberate drug ingestion in adolescents (all p<0.05). Logistic regression analysis showed that family type, parents' knowledge of medication, awareness of medication safety, whether they were depressed/anxious, negative life events, and social support were independent risk factors for deliberate drug ingestion in adolescents (p<0.05).

Conclusion: The incidence of deliberate drug ingestion in adolescents is increasing year by year, and their behavior is influenced by multiple factors. Interventions should be targeted at controllable influencing factors to prevent or reduce deliberate drug ingestion in adolescents.