bluuebunny/crossref_metadata_2025_split huggingface dataset:
Characterization of the clinical and genetic spectrum of autoimmune polyendocrine syndrome type 1 in Chinese case series
Authors: Wang Ya-Bing , Wang Ou , Nie Min , Jiang Yan , Li Mei , Xia Wei-Bo , Xing Xiao-Ping 
Published: July 2021

Abstract
Background
Autoimmune polyendocrine syndrome type 1 (APS1) is a hereditary disease caused by mutations in the AIRE gene with both endocrine and non-endocrine organ involvement. The existing data from China are limited, and this study aims to describe the phenotypes and genetic characterization in Chinese APS1 patients. In this single-center, retrospective, observational study, comprehensive endocrine and extra-endocrine manifestations were collected, and genetic analysis in AIRE was conducted in patients with APS1 between the years of 1984 and 2018 at Peking Union Medical College Hospital.

Results
In total, 13 patients from 12 unrelated families were enrolled, seven of whom were female, with hypoparathyroidism, chronic mucocutaneous candidiasis, and Addison’s disease being the most frequently observed manifestations. Up to 84.7% presented with two or three of the above-mentioned manifestations, and nearly 4.9 ± 1.8 components presented in patients aged 21.2 ± 7.9 years old. Several less common phenotypes, such as myeloproliferative disease, pure red cell aplasia, renal tubular acidosis, asplenia, autoimmune hepatitis, and ankylosing spondylitis, were also observed in patients. Altogether, seven different AIRE mutations were found in six patients, four of which (K161fs, G208V, A246fs, and L308F) had not been previously reported in patients with APS1.

Conclusion
We have provided a comprehensive profile of Chinese patients with APS1, with less commonly observed features being observed in addition to more regularly seen manifestations. Additionally, different AIRE mutations that were observed have expanded the genetic spectrum, which will help with future understanding of the molecular pathogenesis of APS1.
Admixture mapping reveals the association between Native American ancestry at 3q13.11 and reduced risk of Alzheimer’s disease in Caribbean Hispanics
Authors: Horimoto Andréa R. V. R. , Xue Diane , Thornton Timothy A. , Blue Elizabeth E. 
Published: July 2021

Abstract
Background
Genetic studies have primarily been conducted in European ancestry populations, identifying dozens of loci associated with late-onset Alzheimer’s disease (AD). However, much of AD’s heritability remains unexplained; as the prevalence of AD varies across populations, the genetic architecture of the disease may also vary by population with the presence of novel variants or loci.

Methods
We conducted genome-wide analyses of AD in a sample of 2565 Caribbean Hispanics to better understand the genetic contribution to AD in this population. Statistical analysis included both admixture mapping and association testing. Evidence for differential gene expression within regions of interest was collected from independent transcriptomic studies comparing AD cases and controls in samples with primarily European ancestry.

Results
Our genome-wide association study of AD identified no loci reaching genome-wide significance. However, a genome-wide admixture mapping analysis that tests for association between a haplotype’s ancestral origin and AD status detected a genome-wide significant association with chromosome 3q13.11 (103.7–107.7Mb, P = 8.76E−07), driven by a protective effect conferred by the Native American ancestry (OR = 0.58, 95%CI = 0.47−0.73). Within this region, two variants were significantly associated with AD after accounting for the number of independent tests (rs12494162, P = 2.33E−06; rs1731642, P = 6.36E−05). The significant admixture mapping signal is composed of 15 haplotype blocks spanning 5 protein-coding genes (ALCAM, BBX, CBLB, CCDC54, CD47) and four brain-derived topologically associated domains, and includes markers significantly associated with the expression of ALCAM, BBX, CBLB, and CD47 in the brain. ALCAM and BBX were also significantly differentially expressed in the brain between AD cases and controls with European ancestry.

Conclusion
These results provide multiethnic evidence for a relationship between AD and multiple genes at 3q13.11 and illustrate the utility of leveraging genetic ancestry diversity via admixture mapping for new insights into AD.
Energetic dysfunction in sepsis: a narrative review
Authors: Preau Sebastien , Vodovar Dominique , Jung Boris , Lancel Steve , Zafrani Lara , Flatres Aurelien , Oualha Mehdi , Voiriot Guillaume , Jouan Youenn , Joffre Jeremie , Uhel Fabrice , De Prost Nicolas , Silva Stein , Azabou Eric , Radermacher Peter 
Published: July 2021

AbstractBackgroundGrowing evidence associates organ dysfunction(s) with impaired metabolism in sepsis. Recent research has increased our understanding of the role of substrate utilization and mitochondrial dysfunction in the pathophysiology of sepsis-related organ dysfunction. The purpose of this review is to present this evidence as a coherent whole and to highlight future research directions.Main textSepsis is characterized by systemic and organ-specific changes in metabolism. Alterations of oxygen consumption, increased levels of circulating substrates, impaired glucose and lipid oxidation, and mitochondrial dysfunction are all associated with organ dysfunction and poor outcomes in both animal models and patients. The pathophysiological relevance of bioenergetics and metabolism in the specific examples of sepsis-related immunodeficiency, cerebral dysfunction, cardiomyopathy, acute kidney injury and diaphragmatic failure is also described.ConclusionsRecent understandings in substrate utilization and mitochondrial dysfunction may pave the way for new diagnostic and therapeutic approaches. These findings could help physicians to identify distinct subgroups of sepsis and to develop personalized treatment strategies. Implications for their use as bioenergetic targets to identify metabolism- and mitochondria-targeted treatments need to be evaluated in future studies.
Reversion to regular diet with alternate day fasting can cure grade-I non-alcoholic fatty liver disease (NAFLD) in high-fructose-intake-associated metabolic syndrome
Authors: Gamil Nehal Mohamed Bahgat , El Agaty Sahar Mohamed , Megahed Gehan Khalaf , Mansour Rania Salah , Abdel-Latif Marwa Saad 
Published: July 2021

Abstract
Background
Non-alcoholic fatty liver disease (NAFLD) is an emerging global health problem that accompanied the obesity epidemic and is considered as the hepatic component of metabolic syndrome (MetS). Modification of lifestyle of MetS patients remains the focus to reverse and prevent progression of hepatic steatosis to NAFLD and its worsening to severe forms. The present study investigates the possible curability of metabolic syndrome -associated grade-1 NAFLD merely by alternate day fasting with or without reversion to regular diet in adult male rats. The present study was performed on 66 local strain male rats aged (6–10 m.) distributed randomly into C group (n = 12), on regular rat diet; and M group (n = 54) on high fructose- intake. On the 8th week, then rats were subjected to measurement of BW, BMI, WC, FBG, IPGTT, HDL-C, TGs, and liver histopathology, to include MetS rats randomly into four experimental groups for 4 weeks as follows: MS (n = 14); MSRD (n = 12); MSF (n = 13); and MSRDF (n = 12). On the 12th week, all rats were subjected to measurements of BW, BMI, WC, LW, LW/BW, VFW, VFW/BW, FBG, IPGTT, Ins., HOMA-IR, HbA1C, TGs, TC, LDL-C, HDL-C, CRP, Alb., bilirubin, ALT, L-MDA, and liver histopathology.

Results
On the 8th week, M group developed MerS and grade-I NAFLD with score-4 hepatosteatosis (69%). On the 12th week, MS group had grade-1 NAFLD with score-4 hepatosteatosis (82%) with significantly increased Ins., HOMA-IR, HDL-C, LW, LW/BW, L-MDA, ALT, CRP, and significantly decreased Alb. than C rats. Both MSRD and MSF groups had grade-1 NAFLD with score-3 hepatosteatosis (42%) with significantly decreased Ins., HOMA-IR, TC, LDL-C, LW, LW/BW, L-MDA, ALT, CRP, and significantly increased HDL-C and Alb. than MS group. MSRDF rats showed cure of grade-1 NAFLD and significantly decreased LW than other groups and normalized HOMA-IR, HbA1C TC, LDL-C, ALT, and CRP.

Conclusion
One month of alternate-day fasting and regular rat diet could cure grade-I NAFLD associated with Mets due to high fructose intake possibly by attenuating metabolic disorders. These two interventions might be recommended in the management of MetS patients with grade 1-NAFLD disease.
Aphasia-Diagnostic Challenges and Trends: Speech-Language Pathologist’s Perspective
Authors: Badar Faiza , Naz Sajida , Mumtaz Nazia , Babur Muhammad Naveed , Saqulain Ghulam 
Published: July 2021

Objectives: To explore current aphasia assessment practices and barriers among Pakistani speech language pathologists.
Methods: Descriptive study design with qualitative parameters was used. Participants were identified using purposive sampling over a period of eight months from 1st December 2018 to 31st July 2019. Sample comprised of ten speech-language pathologists with least five years’ experience of working with aphasic clients from four major cities of Pakistan including Islamabad, Karachi, Lahore and Peshawar. Study included in depth interviews using a self-structured interview guide with probe questions. Data recorded was transcribed and thematic analyses were drawn manually.
Results: Thematic analysis revealed that most Speech language pathologists rely heavily on informal assessment techniques. With no aphasia assessment tool available in Urdu language, no consensus as to the optimal evaluation strategy or tool for aphasia assessment was noted. However, need for such tool was highlighted by all participants. Hence, non-availability of standardized and culturally appropriate assessment tool in “Urdu” language turned out to be the major barrier in adopting formal assessment for aphasic clients, while time consumed in formal testing remained second most reported issue.
Conclusion: There is a dire need of quick aphasia assessment tool in Urdu language with established psychometric properties and culturally appropriate norms.
doi: https://doi.org/10.12669/pjms.37.5.2314
How to cite this:Badar F, Naz S, Mumtaz N, Babur MN, Saqulain G. Aphasia-Diagnostic Challenges and Trends: Speech-Language Pathologist’s Perspective. Pak J Med Sci. 2021;37(5):1461-1466. doi: https://doi.org/10.12669/pjms.37.5.2314
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Long-term outcome of Non-Transecting Anastomotic Bulbar Urethroplasty for Urethral Strictures: An 8-year experience from Liaquat National Hospital Karachi
Authors: Abdullah Aziz , Ahmed Syed Farhan , Memon Imran Idrees 
Published: July 2021

Objectives: To determine the long-term outcome and complications of non-transecting anastomotic bulbar urethroplasty for the treatment of small bulbar urethral strictures presenting at Liaquat National Hospital, Karachi.
Methods: This interventional study was conducted from January 2012 to December 2019 with the study duration of eight year at Liaquat National Hospital, Karachi. All patients presenting in the outpatient department with urethral strictures were included in the study. Patients were evaluated postoperatively for complications and outcomes were determined. The data was analyzed using SPSS v.25.
Results: A total of 358 patients were treated with non-transecting anastomotic bulbar urethroplasty during this 8-years period. The most common site of stricture formation was bulbar urethra 186 (50%), followed by bulbo-membranous urethra; 103 (31%), and bulbo-penile urethra; 69 (19%). The mean stricture was 1.2 cm (0.5-2.5 cm) in length. The main postoperative complications were scrotal swelling in 7 (1.9%), wound infection in 6 (1.6%), wound dehiscence in 3 (0.8%), and transient sexual dysfunction in 31 (8.6%) patients with an overall initial success rate of 97.8%. No permanent deficit in sexual function was reported.
Conclusions: Non-transecting anastomotic bulbar urethroplasty has a good outcome with insignificant postoperative complications in patients with small bulbar urethral stricture disease.
doi: https://doi.org/10.12669/pjms.37.5.3879
How to cite this:Abdullah A, Ahmed SF, Memon II. Long-term outcome of Non-Transecting Anastomotic Bulbar Urethroplasty for Urethral Strictures: An 8-year experience from Liaquat National Hospital Karachi. Pak J Med Sci. 2021;37(5):1371-1375. doi: https://doi.org/10.12669/pjms.37.5.3879
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Etiology of Hydronephrosis in adults and children: Ultrasonographic Assessment in 233 patients
Authors: Alshoabi Sultan Abdulwadoud , Alhamodi Dahhan Saleh , Alhammadi Mohammed Ali , Alshamrani Abdullah Fahad 
Published: July 2021

Objectives: Hydronephrosis (HN) is dilatation of the collecting system of the kidney due to obstruction of urine outflow. This study intended firstly, to investigate the efficacy of ultrasound (US) imaging to determine the cause of HN, and secondly, to list the causes of HN.
Methods: In this retrospective study, 233 patients with HN were scanned to determine the cause of the HN in the period from 1st January 2016 to 31st October 2017. Categorical results were written as frequencies and percentages.
Results: Out of 233, 91.41% were adults and 8.58% were children (P<0.001), 66.10% were male and 33.90% were female (P<0.001). In 55.36%, HN was in the right kidney and 44.64% was in the left (P=0.116). Exactly 58% of patients were suffering from grade-2, 21.5% grade-3, 11.6% grade-1, and 8.2% grade-4 HN. US imaging can determine the cause of HN in 70.4% of patients. Kidney or ureteric calculi were the cause of HN in 54.1% of cases, reflux was in 7.3%, and pelviureteric junction (PUJ) stenosis was in 3.9%. In cases of calculi induced HN, 25.3% of the calculi were in the vesicoureteric junction (VUJ), 21.5% were in the renal pelvis, 6.4% were in the PUJ or upper ureter, and only 0.9% were in the middle ureter.
Conclusion: Ultrasound imaging can determine the cause of HN in more than two thirds of patients. Calculi are the most common cause of HN even in children and are most common in the VUJ.
Abbreviations:HN: Hydronephrosis, US: Ultrasound, PUJ: Pelviureteric Junction,VUJ: Vesicoureteric Junction, SFU: Society of Fetal Urology,MHz: Megahertz, SPSS: Statistical Package for the Social sciences,IBM: International Business Machines, NY: New York, CI: confidence interval.
doi: https://doi.org/10.12669/pjms.37.5.3951
How to cite this:Alshoabi SA, Alhamodi DS, Alhammadi MA, Alshamrani AF. Etiology of Hydronephrosis in adults and children: Ultrasonographic Assessment in 233 patients. Pak J Med Sci. 2021;37(5):1326-1330. doi: https://doi.org/10.12669/pjms.37.5.3951
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Complications of Cochlear Implant Surgery: A Public Implant Centre Experience
Authors: Ahmed Jawwad , Saqulain Ghulam , Khan Muhammad Iqbal Javed , Kausar Mobeen 
Published: July 2021

Objectives: To determine the prevalence of complications of cochlear implant surgery in children with congenital profound sensorineural hearing loss.
Methods: This study retrospectively & consecutively reviewed charts of children who underwent cochlear implantation from July 2015 to July 2019 at Cochlear Implant Centre of Otolaryngology Department of Capital Hospital, Islamabad Pakistan. These included cases of both genders aged one to 12 years operated at least one year before the time of data collection. Basic demographic data, complications including major and minor complications and treatment received was noted and statistically analyzed using SPSS-23. Results were presented using descriptive statistics.
Results: Current study included a sample of N=251 having a mean age of 4.05±2.15 years including 154(61.4%) males and 97(38.6%) females revealed a prevalence of complications of 16(6.4%) with 4(1.6%) major and 12(4.8%) minor complications. Wound infection and acute otitis media with frequency of 3(1.2%) each were the commonest complications, followed by , facial nerve twitching, tinnitus and vertigo, infection and extrusion; and device failure in 2(0.8%) each. However, there was no significant association of complications with age group and gender with P=0.344 and P=0.519 respectively.
Conclusion: Present public sector implant program is characterized with a very low prevalence of complications of 16(6.4%) with 4(1.6%) major and 12(4.8%) minor complications. Wound infection and acute otitis media were the commonest complications.
doi: https://doi.org/10.12669/pjms.37.5.3960
How to cite this:Ahmed J, Saqulain G, Khan MIJ, Kausar M. Complications of Cochlear Implant Surgery: A Public Implant Centre Experience. Pak J Med Sci. 2021;37(5):1519-1523. doi: https://doi.org/10.12669/pjms.37.5.3960
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
The clinical characteristics and underlying causes of liver damage in patients with COVID-19 infection: Retrospective analysis
Authors: Zuo Guojin , Liu Weirong 
Published: July 2021

Objectives: 2019-nCoV has become a global threat to human health. The primary objective of this study was to examine the hepatic damage in 2019-nCoV infected patients and the associated underlying causes.
Methods: In this retrospective study, a total of 68 laboratory-confirmed and 20 suspected COVID-19 cases from 23rd January 2020 to 15th February 2020 were included. The study was conducted in The First People’s Hospital of Jingzhou, Hubei. SPSS version 23.0. was used for Statistical analysis using the Student’s t-test or Chi-square test. Data was analyzed for the clinical characteristics and underlying causes of liver damage. The outcomes were followed up until March 29, 2020.
Results: Out of the 68 COVID-19 confirmed cases, 51 had an abnormal liver function, of which 15 had an abnormal liver function at the time of hospital admission. The relationship between the liver function and clinical prognosis of patients showed that the abnormal liver function was positively correlated with the severity of the infection (100% vs.70.2%, p=0.036). The proportion of patients with an elevated level of ALT and a depleted level of Albumin (ALB) were significantly lower in the COVID-19 suspected group than the confirmed group (5% vs. 50.9%, p=0.000; 10% vs. 35.8%, p=0.030, respectively). Besides, the utilization rate of lopinavir/ritonavir, azithromycin, and methylprednisolone in COVID-19 suspected patients were significantly lower than the confirmed patients (25% vs. 62.3%, p=0.004; 35% vs. 62.3%, p=0.037; 25% vs. 64.2%, p=0.003, respectively).
Conclusions: Liver function anomalies are one of the common symptoms associated with the COVID-19 infection, where virus-replication in the liver cells, virus-induced inflammatory response, and administration of clinical medication could be the plausible reason.
doi: https://doi.org/10.12669/pjms.37.5.4161
How to cite this:Zuo G, Liu W. The clinical characteristics and underlying causes of liver damage in patients with COVID-19 infection: Retrospective analysis. Pak J Med Sci. 2021;37(5):1282-1287. doi: https://doi.org/10.12669/pjms.37.5.4161
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Vincristine induced neurotoxicity in children who underwent chemotherapy for acute lymphoblastic leukemia and Wilms tumor
Authors: Adil Muhammad Kamran , Ali Zulfiqar , Arshad Uzma , Fawad Usman 
Published: July 2021

Background & Objectives: Vincristine has been used as chemotherapeutic agent for many decades. It implements its function by inhibiting the duplication of tumor cells by destroying the DNA. However, like all other drugs, its administration is not without any side effects. The most important of these are being the neurotoxic side effects. This study evaluated the degree of neurotoxicity induced by vincristine in children who underwent chemotherapy for acute lymphoblastic leukemia and Wilms tumor.
Methods: A quasi experimental study was conducted at Children Hospital & the Institute of Child Health, Multan from January 2020 to October 2020 after taking informed written consent. In this study, 150 children of age group 1—12 years with pathological confirmation of acute lymphoblastic leukemia and Wilms tumor who had undergone a chemotherapy protocol including at least four consecutive weekly Vincristine injections were included, using probability consecutive sampling technique. Neurological examination was conducted on them on weekly basis.
Results: There were 150 patients,90(60%) males and 60(40%) females with mean age of (5.5±2.2). Diminished patellar and Achilles tendon reflexes were seen in 48% and 52% of patients. Muscular weakness was seen in 60% of patients. Other side effects like hoarseness, jaw pain, constipation and petosis were observed in 10%, 8%,40% and 10% of patients respectively. Frequency of side effects was equally observed in both sexes and it was more among age group older than five years (p = 0.01).
Conclusion: Vincristine regimen produces some neurotoxic side effects in children but nearly all of these are of mild to moderate in nature.
doi: https://doi.org/10.12669/pjms.37.5.4169
How to cite this:Adil MK, Ali Z, Arshad U, Fawad U. Vincristine induced neurotoxicity in children who underwent chemotherapy for acute lymphoblastic leukemia and Wilms tumor. Pak J Med Sci. 2021;37(5):1331-1334. doi: https://doi.org/10.12669/pjms.37.5.4169
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.