bluuebunny/crossref_metadata_2025_split huggingface dataset:
Burden of Congenital and Hereditary Anomalies in Hazara Population of Khyber Pakhtunkhwa, Pakistan
Authors: Bibi Anisa , Naqvi Syeda Farwa , Syed Amman , Zainab Shah , Sohail Khadija , Malik Sajid 
Published: April 2022

Background and Objectives: In Pakistan, there is high incidence of congenital and hereditary anomalies (CA) which are a leading cause of infant mortality and morbidity. In order to elucidate the burden and biodemographic correlates of CA, this study was aimed to report the prevalence-pattern and phenotypic attributes of CA in the Hazara population of Khyber Pakhtunkhwa, Pakistan.
Methods: In a retrospective cross-sectional study, subjects/families with CA were recruited from district hospitals and community centers. Phenotypic and descriptive data were obtained; pedigrees were analyzed and parental and biodemographic attributes were recorded.
Results: A total of 1,189 independent subjects and/or families with CA were ascertained. The malformations were grouped into nine major and 95 minor categories. Neurological disorder had the highest representation (n=486; proportion=0.409; 95% CI=0.381-0.437), followed by limb defects (n=292; proportion=0.246, 95% CI=0.221-0.270), musculoskeletal defects, sensorineural/ear defects, blood disorders, eye/visual impairments, ectodermal anomalies, and congenital heart defects. In this cohort, sporadic cases were 65% and familial 35%. Parental consanguinity was significantly higher in isolated cases compared to syndromic, and in familial cases compared to sporadic. Further, speech apraxia and epilepsy were most common associations among the syndromic cases. The assessment of variables like demography, parental consanguinity, familial/sporadic nature, and pedigree structures showed conspicuous heterogeneity among the major and minor categories of CA.
Conclusions: The trend of CA and high incidence of sporadic cases observed in this cohort indicate that nongenetic factors may play a significant role in their etiology which could be minimized by improving the healthcare system.
doi: https://doi.org/10.12669/pjms.38.5.5486
How to cite this:Bibi A, Naqvi SF, Syed A, Zainab S, Sohail K, Malik S. Burden of Congenital and Hereditary Anomalies in Hazara Population of Khyber Pakhtunkhwa, Pakistan. Pak J Med Sci. 2022;38(5):---------. doi: https://doi.org/10.12669/pjms.38.5.5486
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.
Is a staged reloading protocol effective to time the removal of circular frames?
Authors: Sadekar Vilas , Watts Arun T. , Moulder Elizabeth , Souroullas Panayiotis , Hadland Yvonne , Barron Elizabeth , Muir Ross , Sharma Hemant K. 
Published: April 2022

Aims The timing of when to remove a circular frame is crucial; early removal results in refracture or deformity, while late removal increases the patient morbidity and delay in return to work. This study was designed to assess the effectiveness of a staged reloading protocol. We report the incidence of mechanical failure following both single-stage and two stage reloading protocols and analyze the associated risk factors. Methods We identified consecutive patients from our departmental database. Both trauma and elective cases were included, of all ages, frame types, and pathologies who underwent circular frame treatment. Our protocol is either a single-stage or two-stage process implemented by defunctioning the frame, in order to progressively increase the weightbearing load through the bone, and promote full loading prior to frame removal. Before progression, through the process we monitor patients for any increase in pain and assess radiographs for deformity or refracture. Results There were 244 frames (230 patients) included in the analyses, of which 90 were Ilizarov type frames and 154 were hexapods. There were 149 frames which underwent single-stage reloading and 95 frames which underwent a two-stage reloading protocol. Mechanical failure occurred after frame removal in 13 frames (5%), which suffered refracture. There were no cases of change in alignment. There was no difference between refracture patients who underwent single-stage or two-stage reloading protocols (p = 0.772). In all, 14 patients had failure prevented through identification with the reloading protocol. Conclusion Our reloading protocol is a simple and effective way to confirm the timing of frame removal and minimize the rate of mechanical failure. Similar failure rates occurred between patients undergoing single-stage and two-stage reloading protocols. If the surgeon is confident with clinical and radiological assessment, it may be possible to progress directly to stage two and decrease frame time and patient morbidity. Cite this article: Bone Jt Open 2022;3(5):359–366.
The persistent challenges faced by vascular surgery services during the UK coronavirus pandemic: a snapshot qualitative survey
Authors: Nandhra S , Benson RA ,   The Vascular and Endovascular Research Network (VERN) COVER Study Collaborative
Published: April 2022

Introduction The coronavirus (COVID-19) pandemic continues to affect the NHS. The Vascular and Endovascular Research Network (VERN) COvid Vascular sERvice (COVER) study has prospectively shown the significant global impact of the COVID-19 pandemic on vascular surgery. The aim of this study is to investigate the way in which this second wave has affected surgeons’ ability to treat patients with urgent vascular conditions, using contemporaneous snapshot data from 30 UK vascular centres. Methods This is a contemporary (18–28 January 2021) re-run of the Tier 1 COVER survey. This used closed and open questions, related to centres’ provision of common vascular services, threshold for treatment, imaging, screening, staff and theatre availability, multidisciplinary team input, clinics, personal protective equipment, vaccination policies and case-backlogs. The survey was disseminated to clinicians via email. A service reduction score was calculated. Results Forty-two complete responses were received from 30 vascular centres (England, Northern Ireland, Scotland and Wales). Overall, 56.7% of units are performing only urgent procedures. The threshold for abdominal aortic aneurysm (AAA) repair has increased in the majority of UK centres (60%). One in six AAA screening programmes have stopped all screening activity: 30% having a significantly reduced programme and only half running as normal. Waiting lists are increasing for AAA, lower limb revascularisation and venous disease. Conclusion Overall, these data suggest that vascular care in the NHS is facing unprecedented pressures due to COVID-19. Vascular stakeholders will have to urgently address these issues in the coming months. Study registration number ISRCTN 80453162 (registered prospectively).
Outcomes of emergency laparoscopy in the elderly
Authors: Mercer SJ , Body S , Carter NC , Van Boxel GI , Knight BC 
Published: April 2022

Introduction This paper assessed the association between operative approach and postoperative in-hospital mortality in elderly patients undergoing emergency abdominal surgery. Patients undergoing emergency laparotomy have high morbidity and mortality rates. One-third of patients requiring emergency surgery are over 75 years old, and their in-hospital mortality rate exceeds 17%. Fewer than 20% of emergency abdominal operations in the UK are attempted laparoscopically, and only 10% are completed laparoscopically. Little is known about how laparoscopic emergency surgery in the elderly might affect outcomes. Methods An observational UK study was performed using the prospectively maintained National Emergency Laparotomy Audit (NELA) database. Operative approach, NELA risk-prediction score and in-hospital mortality were recorded. The effect of operative approach on in-hospital mortality was analysed, both on a national basis and in a high-volume laparoscopic centre. Results A total of 47,667 patients were included in the study, of whom 15,068 were over 75 years of age. Nationally, surgery was completed by the laparoscopic approach in 7.8% of patients aged over 75; both crude mortality (9.2%) and risk-adjusted mortality (7.1%) were significantly reduced (p<0.0001). In our unit, surgery was completed laparoscopically in 48.4% of patients aged over 75; both crude mortality (6.6%) and risk-adjusted mortality (3.3%) were significantly reduced (p<0.0001). Conclusion Laparoscopy in emergency surgery has been shown in this study to significantly reduce in-hospital mortality in elderly patients and should be embraced in every centre dealing with emergency abdominal surgery.
Development and evaluation of an objective laparoscopic assessment tool: LapPass®
Authors: Fong ML , Leeder P , Dexter S , Menzies D , Sedman P , Francis N 
Published: April 2022

Introduction Laparoscopic surgery is technically challenging and assessment of competency is necessary to ensure patient safety and guide training. We report on the development of LapPass®, an accessible objective simulation assessment tool with credentialing potential. We provide a preliminary evaluation of its usability and aspects of validity. Methods The domains of LapPass® were defined through a consensus process by the executive council of the Association of Laparoscopic Surgeons of Great Britain and Ireland (ALSGBI). A survey of both assessors and trainees was used to test for usability, face and content validity of LapPass®. Internal consistency was tested with Cronbach’s alpha, and a composite marker of validity and usability was obtained. Results LapPass® was developed to consist of four tasks: (1) grasping and manipulation, (2) simulated appendicectomy, (3) cutting a disk and (4) intracorporeal suturing. A total of 76 participants contributed to the evaluation of LapPass®: 13 assessors and 63 trainees. For assessors, Cronbach’s alpha for usability of tasks 1–4 was 0.84, 0.84, 0.76 and 0.86, whereas validity was 0.80, 0.85, 0.88, 0.95, respectively. For trainees, Cronbach’s alpha was 0.75, 0.77, 0.80 and 0.85 for usability, and 0.79, 093, 0.87 and 0.91 for validity. Consensus was that each task was usable and had face and content validity, with median scores of 4.0 or higher (interquartile range 0.0–1.0). Conclusion LapPass® has potential for the objective assessment of basic laparoscopic skills but further research is required to explore its predictive capabilities in a clinical setting.
Which lesions with a radiological or core biopsy diagnosis of fibroadenoma should be excised?
Authors: Lee AHS , James J , Whisker L , Rakha EA , Ellis IO 
Published: April 2022

Introduction A recent Association of Breast Surgery summary statement on fibroadenoma management recommends excision only for cellular fibroepithelial lesions and rapidly growing lesions with a core biopsy diagnosis of fibroadenoma; persistent pain is a relative indication for excision. Methods This retrospective study looked at the impact this approach would have on the diagnosis of phyllodes tumours. Results From 2014 to 2018, there were 1,058 core biopsy diagnoses of fibroadenoma; 112 lesions were excised, of which 98 were fibroadenomas, 4 were hamartomas and 10 were phyllodes tumours. In this group, an excision diagnosis of phyllodes tumour was associated with size more than 40 mm, age more than 40 years and radiological suspicion of phyllodes tumour or carcinoma. One hundred and sixty-six excised fibroepithelial lesions with no previous core biopsy included eight phyllodes tumours; in this group, rapid growth was associated with phyllodes tumour diagnosis. Twelve of the 26 fibroepithelial lesions classified as B3 (cellular fibroepithelial lesion or phyllodes tumour) were diagnosed as phyllodes tumours on excision. Using a combination of radiological, clinical and pathological features it was possible to create an excision policy that would recommend excision of 22 of the 31 phyllodes tumours in this period. Eight of the nine ‘missed’ phyllodes tumours were benign. Conclusion The Association of Breast Surgery summary statement will reduce the number of fibroadenomas excised, but may also result in delayed diagnosis of some phyllodes tumours. Appropriate safety netting advice should be provided to identify rapidly growing lesions.
CORESS Feedback: Cases from the Confidential Reporting System for Surgery
Authors: Smith F CT 
Published: April 2022

CORESS is an independent charity, supported by the AXA Health, the MDU and the WPA Benevolent Foundation We are grateful to those who have provided the material for these reports. The online reporting form is available on the website ( www.coress.org.uk ), which also includes previous Feedback reports. Published cases will be acknowledged by a Certificate of Contribution, which may be included in the contributor’s record of continuing professional development or may form part of appraisal or annual review of competence progression (ARCP) portfolio documentation. Trainee contributions are particularly welcome.
The daily dose of testosterone-replacement therapy dependence from the body mass index in FtM transgender PATIENTS
Authors: Sergeeva L. Y. , Babenko A. Yu. 
Published: April 2022

BACKGROUND: The basis for the management of transgender patients is the use of various hormonal correction schemes necessary for changing the hormonal sex and, possibly, further preparation for surgical correction. Currently, the choice of the starting dose and the scheme is carried out empirically, which lengthens the period of selection of therapy and increases the risk of its complications. Taking into account the individual characteristics of the patient can help in optimizing therapy.AIM: Investigate Factors Affecting the Daily Demand for Testosterone Ester Blends in Transgender MenMATERIALS AND METHODS: This study is a case-control observational study. Patients included prior to initiation of testosterone replacement therapy. The analysis of factors interrelated with the daily requirement of testosterone preparations was carried out. Among the factors of interest, the body mass index (BMI), the results of blood tests for total testosterone and the functional state of the liver and kidneys are considered. Testosterone replacement therapy (TRT) regimens were evaluated in transgender men. For the calculation, we used the formulas for BMI and the average daily dose of testosterone. Based on the data obtained, conclusions were drawn that allow determining the necessary TRT scheme in different trans-gender men at an early stage of hormonal correction.RESULTS: Our study included 58 transgender FtM patients who were prescribed testosterone preparations with an identical composition. We found a positive correlation between BMI and testosterone dose in patients of group II (p = 0.04).CONCLUSION: In the conclusion, the obtained schemes of hormonal sex reassignment with a minimum risk of possible complications are presented. Our results demonstrated a relationship between BMI in overweight and obese patients and the need for TRT. For patients with a BMI of 25 to 29 kg / m2, the interval between injections of a mixture of testosterone esters does not differ significantly from that in the group with a BMI below 25 kg / m2 and averages once every 18 days, and in the group with a BMI ≥ 30 kg / m2 tested testosterone ester preparations should be prescribed once every 2 weeks (14 days).
Dysglycemia in COVID-19 and Type 2 Diabetes Mellitus: Peculiarities of the Glycemic Profile in Hospitalized Patients and the Role of Steroid-Induced Disorders
Authors: Strongin L. G. , Nekrasova T. A. , Belikina D. V. , Korneva K. G. , Petrov A. V. 
Published: April 2022

BACKGROUND: There is a lack of data on the features of dysglycemia in hospitalized patients with COVID-19 and concomitant diabetes mellitus (DM) confirmed by continuous glucose monitoring (CGM).AIM: to study the glycemic profile in hospitalized patients with COVID-19 and type 2 diabetes mellitus by continuous glucose monitoring and the role of steroid therapy in dysglycemiadevelopment.MATERIALS AND METHODS: We examined 21 patients with COVID-19 and DM 2 and 21 patients with DM 2 without COVID-19 (control group) using a professional 4–7-day CGM. We also compared two subgroups of patients with COVID-19 and DM 2: 1) patients received systemic glucocorticosteroids (GCS) during CGM and 2) patients in whomCGMwas performed after discontinuation of GCS.RESULTS: Compared with controls, patients with COVID-19 and DM2 had lesser values of glycemic «time in range» (32.7 ± 20.40 vs 48.0 ± 15.60%, p = 0.026) andhigher parameters of mean glycemia (p <0.05) but similar proportion of patients with episodes of hypoglycemia (33.3% vs 38.1%, p = 0.75). Patients who received dexamethasone during CGM were characterized by higher hyperglycemia and the absence of episodes of hypoglycemia. In patients who hadCGM after dexamethasone discontinuation, hyperglycemia was less pronounced, but 60% of them had episodes of hypoglycemia, often nocturnal, clinically significant and not detected by routine methods.CONCLUSION: Patients with COVID-19 and DM 2had severe and persistent hyperglycemia but a third of them hadalso episodes of hypoglycemia. During therapy with dexamethasone, they had the most pronounced hyperglycemia without episodes of hypoglycemia. In patients who underwent CGM after discontinuation of dexamethasone, hyperglycemia was less pronounced but 60% of them have episodes of hypoglycemia, often nocturnal, clinically significant and not diagnosed by routine methods. It would be advisable to recommend at least a 5–6-fold study of the blood glucose level (with its obligatory assessment at night) even for stable patients with COVID-19 and DM 2after the end of GCS treatment.
Cocaine-amphetamine regulated transcript (CART) — promising omics breakthrough in the endocrinology
Authors: Mikheev R. K. , Romantsova T. I. , Troshina E. A. , Grigoryan O. R. , Andreeva E. N. , Sheremetyeva E. V. , Absatarova Yu. S. , Mokrysheva N. G. 
Published: April 2022

BACKGROUND: The cocaine-amphetamine regulated transcript has been discovered long time ago (circa over 25 years ago) but still stays not enough investigated. Just during last five years scientist’s society started providing interest to the genomic, proteomic and metabolic essence of the cocaine-amphetamine regulated transcript.AIM: The evaluation of historical pathway and perspectives of the cocaine-amphetamine regulated transcript medical investigations.MATERIALS AND METHODS: The literature search has been provided via Russian (eLibrary, CyberLeninka.ru) and international (PubMed, Cochrane Library) databases and among articles on Russian and English languages. The main criteria for article selection was free access and 2019–2021 years of publishing. Although the introduction is based on the articles published in 1989. The present article was created according to the federal project «Central and peripheral pathophysiological mechanisms of adipose tissue diseases and their clinical and hormonal manifestations» (2020–2022)RESULTS AND CONCLUISON: It is necessary to keep on investigating genomic, proteomic and metabolomic markers because they contain important clues for successful resistance against human diseases. The 21st century is the era of transformation from simple clinical medicine to personalized science. For example, researches in the area of cocaine-amphetamine regulated transcript may result in invention of genetic medicine against dangerous metabolic diseases.
Definitive treatment of Graves’ disease in children
Authors: Ivannikova T. E. , Shiryaeva T. Yu. , Nagaeva E. V. , Sheremeta M. S. , Brovin D. N. , Bezlepkina O. B. 
Published: April 2022

BACKGROUND: Hyperthyreoidism due to Graves’ disease is a rare disorder in pediatric practice. There is 2 treatment options in Graves’ disease: medical treatment and definitive treatment, including surgery and radioactive iodine. Each method has its advantages and disadvantages. If medical therapy is ineffective the choice between radical treatment method is raised: radioactive iodine or total thyroidectomy. In this research we analyze treatment outcomes in pediatric Graves’ disease patients after different radical treatment methods.AIM: Comparative analysis of radical treatment outcomes in pediatric patients with Graves’ disease.MATERIALS AND METHODS: Retrospective and prospective one-center research of 122 patients with Graves’ disease after radical treatment (between 2016 and 2021)RESULTS: The mean age was 13.5±3,5 year at the moment of examination. Patients were divided into 2 groups due to the radical treatments method: 1 group (n=60) were children after surgical treatment, 2 group (n=62) — after radioactive iodine. The mean dose of medical treatment in these groups did not reliably differ (p=0,06), duration of the medical treatment was reliably longer in patients after radioactive iodine (p=0,024). Graves’ orbitopathy was diagnosed in 58 patients (47,5%) and met equally often in both groups, but active stage of Graves’ orbitopathy was diagnosed only in patients from the 1st group. Thyroid size was reliable bigger in patients from the 1st group (p=0,004), and thyroid gland nodes were diagnosed only in patients from 1st group (p=0,0007).CONCLUSION: RI can be considered an effective and safe treatment for GD. The effectiveness of RI depends on the volume of the thyroid gland; according to the results of the constructed ROC curve, the risk of repeated RI is higher with a volume of more than 55 cm3. Also radioactive iodine is undesirable if there is signs of ophatalmopathy due to its possible deterioration. According to the results of the study hypoparathyroidism after surgical treatment was diagnosed in 20%, recurrent laryngeal nerve injury was diagnosed after surgical treatment in 5% of patients. In patients with identified nodular goiter according to the results of ultrasound, surgical treatment is preferable due to the impossibility of excluding thyroid cancer.
In memory of Elvira Petrovna Kasatkina (March 27, 1930 – April 18, 2022)
Authors: Editorial Article 
Published: April 2022

On April 18, 2022, Professor Elvira Petrovna Kasatkina, Honored Doctor of the Russian Federation, Honorary Head of the Department of Pediatric Endocrinology of the RMANPO, Doctor of Medical Sciences, died at the age of 93.
The Little Red Hen and a Corona Giant: Creative Storytelling Strategy in an Early Childhood Classroom
Authors: Zhulamanova Ilfa , Raisor Jill 
Published: April 2022

Storytelling is a natural mean of communication between generations and is deeply rooted in culture. In today’s classrooms, the act of storytelling is often overshadowed by a narrow focus on academics. However, children can use storytelling as a way to demonstrate depth of their understanding. This study details the use of a creative storytelling strategy implemented in an early childhood classroom which was interrupted by the COVID-19 pandemic. The end result is a two-phase study which concluded with pre-kindergarten aged children using storytelling to discuss and display their perceptions of Coronavirus in an academic setting.