bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genetic study in a family with dopa-responsive dystonia revealed a novel mutation in sepiapterin reductase gene
Authors: Froukh Tawfiq 
Published: October 2019

Dopa-responsive dystonia due to sepiapterin reductase deficiency (OMIM#612716) is caused by recessive mutations in the gene encoding sepiapterin reductase (SPR), which plays an important role in the biosynthesis of tetrahydrobiopterin (BH4). One Jordanian patient to first cousin parents is reported in this study. The parents of the proband have recognized the symptoms of their daughter at six months old with motor developmental delay. The symptoms were progressed after-then to include speech delay, seizure, ataxia, oculomotor apraxia, dysarthia and choreoathetosis. Despite of these symptoms, the clinicians in Jordan were unable to diagnose the case. In August 2018, the proband (8 years old) was presented to the department of biotechnology and genetic engineering at Philadelphia University in Jordan for the purposes of performing whole exome sequencing (WES). Analysis of WES data has revealed novel homozygous frameshift variant in the gene SPR (NM_003124.4:c.40delG,p.Ala15Profs*100). The variant is heterozygous in the parents and in the healthy male siblings. Therefore, the studied case was diagnosed with sepiapterin reductase deficiency. Because this disease is likely to be treated recommendations were given to the family immediately to start treatments trials. The case in this study illustrates the difficulties of diagnosing sepiapterin reductase deficiency based on clinical symptoms only and thus renders the possibilities of early management. Also, this study reinforces the importance of running WES to undiagnosed neurodevelopmental cases.
doi: https://doi.org/10.12669/pjms.35.6.1181
How to cite this:Froukh T. Genetic study in a family with dopa-responsive dystonia revealed a novel mutation in sepiapterin reductase gene. Pak J Med Sci. 2019;35(6):1736-1739. doi: https://doi.org/10.12669/pjms.35.6.1181
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.
Anatomical predicting factors of difficult spinal anesthesia in patients undergoing cesarean section: An observational study
Authors: Atashkhoei Simin , Samudi Saeed , Abedini Naghi , Khoshmaram Nahid , Minayi Masoumeh 
Published: October 2019

Objectives: Although Spinal anesthesia is the most common and safe anesthetic method for patients undergoing cesarean section, difficult access to it is a frequent problem in operating theaters. The predictive factors for the difficulty of spinal anesthesia in patients undergoing cesarean section were investigated.
Methods: A total of 110 pregnant women, single-stranded, aged 18-40 years old and ASA class I or II candidates for elective cesarean section with spinal anesthesia were studied. Demographic information, body appearance, ability to bend the back of the patient was recoded. Also the position of the anatomical landmarks of the lumbar spine, the presence or absence of deformity in the spinal column lumbar was recorded for all patients.
Results: The correlation coefficient of age, weight, body mass index, general body appearance, retention ability, anatomical signs of the spinal column (touching the spinous process) and the interval between the vertebra with the difficulty of spinal anesthesia were statistically significant (p<0.05). Complications after spinal anesthesia had a statistically significant relationship with the difficulty of performing spinal blockade (p: 0.006).
Conclusion: Increasing age, weight, body mass index, reducing the ability to bend the waist, the non-touching of the spinous process and interstitial space causes the difficulty of performing spinal anesthesia in patients undergoing cesarean section. The results can contribute to determining and designing a spinal blockade scoring system based on the patient’s characteristics and effective factors before the surgery, to facilitate the technique by anesthesiologist.
doi: https://doi.org/10.12669/pjms.35.6.1276
How to cite this:Atashkhoei S, Samudi S, Abedini N, Khoshmaram N, Minayi M. Anatomical predicting factors of difficult spinal anesthesia in patients undergoing cesarean section: An observational study. Pak J Med Sci. 2019;35(6):1707-1711. doi: https://doi.org/10.12669/pjms.35.6.1276
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.
Multi-level barriers & priorities accorded by policy makers for Neonatal Hearing Screening (NHS) in Pakistan: A thematic analysis
Authors: Mumtaz Nazia , Babur Muhammad Naveed , Saqulain Ghulam 
Published: October 2019

Objectives: To explore the Barriers and Priorities accorded to neo-natal hearing screening at government health policy level.
Methods: This exploratory descriptive study design employed qualitative parameters with purposive sampling and was conducted at Capital Administration & Development Division (CADD) and Ministry of National Health Services, Regulations & Coordination (MoNHSR&C) from June 2015 to January 2017 over a period of 18 months. Sample included stakeholders concerned with healthcare planning and policy making in Pakistan. Research included in depth interviews using a self-structured interview guide from three policy makers’ fulfilling the selection criteria. Data recorded was transcribed and thematic analyses drawn manually and verified using two separate coders.
Results: Outcomes from thematic analysis drawn were Planning, Funding, Governance, Awareness, Medical and technical capacity building, Policy development, Evaluation and Sustainability. Lack of financial resources allocation due to policies and legislation top the list of barriers. The lack of research and reliable data as to the number of persons suffering from hearing loss (HL) from birth and its economic cost to the state and individual remains a policy barrier.
Conclusion: The barriers to NHS are lack of financial resource allocation by the federal government, and lack of research and reliable statistics about Hearing Impairment (HI) and its economic cost.
doi: https://doi.org/10.12669/pjms.35.6.703
How to cite this:Mumtaz N, Babur MN, Saqulain G. Multi-level barriers & priorities accorded by policy makers for Neonatal Hearing Screening (NHS) in Pakistan: A thematic analysis. Pak J Med Sci. 2019;35(6):1674-1679. doi: https://doi.org/10.12669/pjms.35.6.703
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.
Screening tuberculosis patients for diabetes mellitus in a routine program setting in Kampala, Uganda: a cross-sectional study
Authors: Nsonga Joseph , Dongo John Paul , Mugabe Frank , Mutungi Gerald , Walyomo Richard , Oundo Christopher , Zalwango Sarah , Okello Daniel , Muchuro Simon , Dlodlo Riitta A , Lin Yan 
Published: October 2019

Background: Uganda is located in East Africa and is among the countries with the lowest income globally. The ten health centres in this project serve populations in the under-privileged communities of Kampala. The objective of the study was to implement diabetes mellitus (DM) screening among tuberculosis (TB) patients in a routine program setting with limited resources and high human immunodeficiency virus (HIV) prevalence. Methods: A descriptive cross-sectional observational study was conducted in ten health centres in Kampala, Uganda. As part of a project to implement DM screening in a routine setting, TB patients were screened for DM by trained health workers. A fasting blood glucose (FBG) value ≥7.0mmol/l was considered to indicate DM. For this study, aggregate data was collected and analysed using SPSS for Windows, version 13.0. Results: Among 4,590 TB patients registered, 4,016 (88.0%) were screened with random blood glucose (RBG). Of those with RBG ≥6.1mmol/l, 1,093 (83.3%) were screened with FBG. In total, 92 (2.3%) patients were diagnosed with DM and 66 (71.8%) of them were newly diagnosed. The proportion of TB patients screened with FBG in the health centres varied from 58.2% to 100%. The proportion of patients screened with FBG and the prevalence of DM were significantly higher in private health centres compared with public health centres. The health centres in peri-urban areas screened more patients with RBG than those in urban areas. These health centres without DM services screened a larger number of patients with RBG and FBG than those with DM services. Conclusions: It appears feasible to implement screening TB patients for DM in routine program settings with limited resources and high HIV prevalence. Its introduction requires close collaboration between TB and DM services. The challenges identified need government attention and certain institutional and service-related factors need to be better managed at times
Creation of a rectal cancer registry in Italy by the Advanced International Mini-Invasive Surgery (AIMS) academy clinical research network
Authors: Mari Giulio M. , Achilli Pietro , Maggioni Dario , Crippa Jacopo , Costanzi Andrea T.M. , Scotti Mauro A. , Giardini Vittorio , Garancini Mattia , Cocozza Eugenio , Borroni Giacomo , Benzoni Ilaria , Martinotti Mario , Totaro Luigi , Origi Matteo , Mazzola Michele , Ferrari Giovanni , Ziccarelli Antonio , Petri Roberto , Bagnardi Vincenzo , Pugliese Giacomo , Forgione Antonello , Pugliese Raffaele ,   AIMS Academy Clinical Research Network
Published: October 2019

Background: The management of rectal cancer is multimodal and involves a multidisciplinary team of cancer specialists with expertise in medical oncology, surgical oncology, radiation oncology and radiology. It is crucial for highly specialized centers to collaborate via networks that aim to maintain uniformity in every aspect of treatment and rigorously gather patients’ data, from the first clinical evaluation to the last follow-up visit. The Advanced International Mini-Invasive Surgery (AIMS) academy clinical research network aims to create a rectal cancer registry. This will prospectively collect the data of patients operated on for non-metastatic rectal cancer in high volume colorectal surgical units through a well design pre-fashioned database for non-metastatic rectal cancer, in order to take all multidisciplinary aspects into consideration. Methods/Design: The protocol describes a multicenter prospective observational cohort study, investigating demographics, frailty, cancer-related features, surgical and radiological parameters, and oncological outcomes among patients with non-metastatic rectal cancer who are candidates for surgery with curative intent. Patients enrolled in the present registry will be followed up for 5 years after surgery. Discussion: Standardization and centralization of data collection for neoplastic diseases is a virtuous process for patient care. The creation of a register will allow the control of the quality of treatments provided and permit prospective and retrospective studies to be carried out on complete and reliable high quality data. Establishing data collection in a prospective and systematic fashion is the only possibility to preserve the enormous resource that each patient represents.
Case Report: Germ cell tumor presenting as cecal mass
Authors: Pendela Venkata Satish , Munoz Anisleidys , Warner JulieAnn , Yarlagadda Roopa 
Published: October 2019

Extra gonadal germ cell tumors most frequently occur in the anterior mediastinum, retro-peritoneum, and pineal and suprasellar regions. The infrequency of its occurrence inside gastrointestinal tract makes it an arduous diagnostic challenge. A 23 year old male with no significant past medical history presented to the emergency department with increasing abdominal pain, diarrhea, episodic vomiting for 3 weeks. Review of systems was positive for melena and shortness of breath on exertion. Fullness and irregularity along with tenderness was noted around the right iliac region. CT scan (computed tomography) of the abdomen revealed a cecal mass with multiple metastases to liver, lungs and abdominal lymph nodes. Colonic endoscope was performed but it could not be advanced beyond the cecal mass. Biopsies from the mass were reported as poorly differentiated metastatic carcinoma. During the course of hospitalization, he developed symptomatic small bowel obstruction with perforation. Colonic resection was performed and histology showed Germ-Cell Tumor. Beta HCG level was 118789 IU/L suggestive of a non-seminomatous germ cell tumor. Ultrasound of the scrotum, MRI brain (magnetic resonance imaging) and CT scan of the chest did not reveal a primary tumor. Chemotherapy was started with Bleomycin, Etoposide and Cisplatin after which beta human chorionic gonadotropin (HCG) levels dropped dramatically. His hospital course got complicated with neutropenic sepsis with shock which progressed to multi-organ dysfunction and unfortunately, he succumbed to the disease burden. This case demonstrates one of the rare presentations of extragonadal germ cell tumors and the diagnostic challenges associated with it. Very few cases have been reported in the literature, and none of them presented as a cecal mass. Early recognition of this presentation will help in reducing the tumor burden and the mortality associated with it, as germ cell tumors are highly susceptible to chemotherapy.
Effectiveness of autologous platelet-rich plasma gel in the treatment of hard-to-heal leg ulcers: a randomised control trial
Authors: Rainys Domantas , Cepas Adas , Dambrauskaite Karolina , Nedzelskiene Irena , Rimdeika Rytis 
Published: October 2019

Objective: Regenerative medicine products such as autologous platelet-rich plasma (autologous PRP) gel may speed up the process of healing. Clinical studies show promising results in the treatment of diabetic foot ulcers (DFUs), however there is lack of scientific evidence of autologous PRP effectiveness in treating leg ulcers of other aetiology. This study evaluates the effectiveness of autologous PRP gel in the treatment of hard-to-heal leg ulcers compared with existing conventional treatment. Method: A prospective, randomised controlled, open-labelled clinical trial was carried out between 2014 and 2018. An eight-week study protocol was chosen or until 100% wound re-epithelialisation was observed. Wound size reduction, granulation tissue formation, microbiological wound bed changes and safety were evaluated. Results: A total of 69 patients (35 in the autologous PRP group and 34 in the control group) were included in the study; 25.71% of the autologous PRP group and 17.64% of control group had ulcers completely re-epithelialised (p>0.05). Wound size reduction in the autologous PRP group was 52.35% and 33.36% in the control group (p=0.003). The autologous PRP group showed superiority over conventional treatment in wound bed coverage with granulation (p=0.001). However, more frequent wound contamination was observed at the end of treatment in the autologous PRP group (p=0.024). No severe adverse events were noted during the study. Both treatment methods were considered equally safe. Conclusion: Topical application of autologous PRP gel in leg ulcers of various aetiology show beneficial results in wound size reduction and induces the granulation tissue formation. However, it is associated with more frequent microbiological wound contamination.
Convolutional neural networks for wound detection: the role of artificial intelligence in wound care
Authors: Ohura Norihiko , Mitsuno Ryota , Sakisaka Masanobu , Terabe Yuta , Morishige Yuki , Uchiyama Atsushi , Okoshi Takumi , Shinji Iizaka , Takushima Akihiko 
Published: October 2019

Objective: Telemedicine is an essential support system for clinical settings outside the hospital. Recently, the importance of the model for assessment of telemedicine (MAST) has been emphasised. The development of an eHealth-supported wound assessment system using artificial intelligence is awaited. This study explored whether or not wound segmentation of a diabetic foot ulcer (DFU) and a venous leg ulcer (VLU) by a convolutional neural network (CNN) was possible after being educated using sacral pressure ulcer (PU) data sets, and which CNN architecture was superior at segmentation. Methods: CNNs with different algorithms and architectures were prepared. The four architectures were SegNet, LinkNet, U-Net and U-Net with the VGG16 Encoder Pre-Trained on ImageNet (Unet_VGG16). Each CNN learned the supervised data of sacral pressure ulcers (PUs). Results: Among the four architectures, the best results were obtained with U-Net. U-Net demonstrated the second-highest accuracy in terms of the area under the curve (0.997) and a high specificity (0.943) and sensitivity (0.993), with the highest values obtained with Unet_VGG16. U-Net was also considered to be the most practical architecture and superior to the others in that the segmentation speed was faster than that of Unet_VGG16. Conclusion: The U-Net CNN constructed using appropriately supervised data was capable of segmentation with high accuracy. These findings suggest that eHealth wound assessment using CNNs will be of practical use in the future.
Пешеходное интервью: структура и жанры
Authors: Веселкова Наталья Вадимовна , Вандышев Михаил Николаевич , Прямикова Елена Викторовна 
Published: October 2019

На материале трех исследовательских проектов анализируется опыт применения go-along интервью в открытых и закрытых пространствах. Предлагается детализированная структура маршрутов go-along: начальная точка и следующий за ней пункт, состоявшиеся и несостоявшиеся дестинации, проходные места, конечный пункт. Четыре жанра go-along выделяются на пересечении, во-первых, города-для-других и города-для-себя, во-вторых — движения outdoor и indoor, а именно: «биографическое go-along», «экскурсия по городу», «экскурсия по музею», «антиэкскурсия по музею».
Благодарность. Статья подготовлена при финансовой поддержке Российского Фонда Фундаментальных Исследований, проект18-011-00456 А «Масштабирование социальной памяти поколений в городах «старой» и «новой» индустриальности».
Информационно-цифровое неравенство: поиски эффективных практик адаптации населения
Authors: Шиняева Ольга Викторовна , Полетаева Ольга Владимировна , Слепова Ольга Михайловна 
Published: October 2019

Российское общество вступило в период динамичного внедрения цифровых технологий во все сферы жизни; в этих условиях информационно-цифровая активность из элементов профессиональной, образовательной, досуговой деятельности превратилась в критерий для определения места каждого гражданина на шкале освоения цифровых ресурсов. В данной статье анализируется поведение социальных групп с позиций адаптации к цифровым технологиям, а также с позиций состояния самой адаптивной ситуации — цифрового пространства в российских регионах, технологических и поведенческих критериев стратификации индивидов по шкале «онлайн — офлайн». Актуальность исследования адаптивных практик жителей российских регионов, их мотивации в процессе освоения конкретных цифровых технологий не вызывает сомнений в силу теоретической и практической значимости. Теоретическая часть статьи содержит классификацию адаптивных практик, их анализ с позиций эффективности в эпоху цифровизации; критерии и индикаторы измерения информационно-цифрового неравенства массовых пользователей. Эмпирическая часть статьи основана на данных авторского межрегионального исследования «Информационно-цифровое неравенство населения и способы его преодоления» (2018 г.); выборка анкетного опроса репрезентирует население Пензенской и Ульяновской областей, проживающее в населенных пунктах разных типов (крупные, средние, малые города, сельские поселения), имеющее разные возрастные и образовательные характеристики. Сравнение «цифровой» стратификации населения по разным профилям показало, что технологическая доступность онлайн-пространства в разных типах поселений российской провинции опережает мотивационно-поведенческую доступность. Барьеры освоения цифровых ресурсов носят мотивационный, когнитивный, экономический характер; они присутствуют во всех группах населения, но чаще — среди людей старших возрастных групп; жителей сёл и поселков, работников с начальным профессиональным образованием; бедных и малообеспеченных семей. Из всех типов адаптивных практик эффективны те, которые сопряжены с высоким уровнем позитивной мотивации, цифровой активности и грамотности; ядро эффективных адаптантов составляют молодые люди, женщины, жители крупных городов, предприниматели, специалисты с высшим образованием. В статье описаны стимулы повышения информационно-цифровой активности представителей разных типов социальной адаптации.
Благодарность. Статья подготовлена при поддержке Российского фонда фундаментальных исследований (РФФИ). Грант №18-411-730009 «Информационно-цифровое неравенство и способы его преодоления в регионе».
О причинах и векторах международной образовательной миграции. Рец. на кн.: Brooks R., Waters J. (2011) Student Mobilities, Migration and the Internationalization of Higher Education. Palgrave McMillan, New York. 196 p.
Authors: Толстикова Анна Александровна 
Published: October 2019

Материал не аннотирован.
Благодарность: Статья подготовлена при поддержке Российского фонда фундаментальных исследований, грант №17-33-00063 («Механизмы воспроизводства и флексибилизации индивидуальной жизненной колеи: российская молодежь в контексте ‘жесткой’ и ‘текучей’ современности»).