Search results for: clinical diagnosis

Authors: Nazmul Haque, Syeda Tasnuva Maria

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Sheehan's Syndrome (SS), also known as postpartum hypopituitarism, is a rare but potentially serious condition resulting from ischemic necrosis of the pituitary gland, often occurring during or after childbirth. This syndrome is characterized by hypopituitarism, leading to deficiencies in various hormones produced by the pituitary gland. The primary cause is typically severe postpartum hemorrhage, leading to inadequate blood supply and subsequent necrosis of the pituitary tissue. This chronic hypopituitarism sometimes plays the role of premature atherosclerosis, which may lead to cardiovascular disease. This abstract provides a comprehensive overview of Sheehan's Syndrome with ischaemic heart disease, encompassing its pathophysiology, clinical manifestations, and current management strategies. The disorder presents a wide spectrum of symptoms, including chest pain, fatigue, amenorrhea, lactation failure, hypothyroidism, and adrenal insufficiency. Timely diagnosis is crucial, as delayed recognition can lead to complications and long-term health consequences. We herein report a patient complaining of chronic fatigue symptoms, aggressiveness, chest pain, and breathlessness with repeated LOC that were diagnosed with SS with IHD. The patient was treated with antiplatelet, antianginal, steroids, and hormone replacement with marked improvement in his overall condition.

Keywords: ischaemic heart disease, Sheehan's syndrome, post-partum haemorrhage, pituitary gland

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Authors: R. C. Barbuti, M. N. Oliveira, N. P. Perina, C. Haro, P. Bosch, C. S. Bogsan, J. N. Eisig, T. Navarro-Rodriguez

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Background: The management of Helicobacter pylori (H. pylori) eradication is still a matter of discussion, full effectiveness is rarely achieved and it has many adverse effects. Probiotics are believed to have a role in eradicating and possibly preventing H. pylori infection as an adjunctive treatment. The present clinical study was undertaken to see the efficacy of a specially designed fermented milk product containing Bifidobacterium lactis B420 on the eradication of H. pylori infection in a prospective, randomized, double-blind, controlled study in humans. Method: Four test products were specially designed fermented milks, counts of viable cells in all products were 1010 Log CFU. 100 mL-1 for Bifidobacterium lactis-Bifidobacterium species 420, and 1011 Log CFU. 100 mL-1 for Streptococcus thermophiles were administered to subjects infected with H. pylori with a previous diagnosis of functional dyspepsia according to the Rome III criteria in a prospective, randomized, double-blind, placebo-controlled study in humans. Results: After FM supplementation, not all subjects showed a reduction in H. pylori colonization. Conclusion: Bifidobacterium lactis B420, administered twice a day for 90 days did not show an increase in H. pylori eradication effectiveness in Brazilian patients with functional dyspepsia.

Keywords: antibacterial therapy, Bifidobacteria fermented milk, Helicobacter pylori, probiotics

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Authors: Aicha Akrout, Amira Echtioui, Mohamed Ghorbel

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Pneumonia remains a significant global health concern, posing a substantial threat to human lives due to its contagious nature and potentially fatal respiratory complications caused by bacteria, fungi, or viruses. The reliance on chest X-rays for diagnosis, although common, often necessitates expert interpretation, leading to delays and potential inaccuracies in treatment. This study addresses these challenges by employing transfer learning techniques to automate the detection of lung diseases, with a focus on pneumonia. Leveraging three pre-trained models, VGG-16, ResNet50V2, and MobileNetV2, we conducted comprehensive experiments to evaluate their performance. Our findings reveal that the proposed model based on VGG-16 demonstrates superior accuracy, precision, recall, and F1 score, achieving impressive results with an accuracy of 93.75%, precision of 94.50%, recall of 94.00%, and an F1 score of 93.50%. This research underscores the potential of transfer learning in enhancing pneumonia diagnosis and treatment outcomes, offering a promising avenue for improving healthcare delivery and reducing mortality rates associated with this debilitating respiratory condition.

Keywords: chest x-ray, lung diseases, transfer learning, pneumonia detection

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Authors: Ahmad Rasyadan Arshad, A. Rahman A. Jamal, N. Mohamed Ibrahim, Nor Azian Abdul Murad

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Introduction: Parkinson’s disease (PD) is a complex and asymptomatic disease where patients are usually diagnosed at late stage where about 70% of the dopaminergic neurons are lost. Therefore, identification of molecular biomarkers is crucial for early diagnosis of PD. MicroRNA (miRNA) is a short nucleotide non-coding small RNA which regulates the gene expression in post-translational process. The involvement of these miRNAs in neurodegenerative diseases includes maintenance of neuronal development, necrosis, mitochondrial dysfunction and oxidative stress. Thus, miRNA could be a potential biomarkers for diagnosis of PD. Objective: This study aim to identify the miRNA involved in Late Onset PD (LOPD) and Early Onset PD (EOPD) compared to the controls. Methods: This is a case-control study involved PD patients in the Chancellor Tunku Muhriz Hospital at the UKM Medical Centre. miRNA samples were extracted using miRNeasy serum/plasma kit from Qiagen. The quality of miRNA extracted was determined using Agilent RNA 6000 Nano kit in the Bioanalyzer. miRNA expression was performed using GeneChip miRNA 4.0 chip from Affymetrix. Microarray was performed in EOPD (n= 7), LOPD (n=9) and healthy control (n=11). Expression Console and Transcriptomic Analyses Console were used to analyze the microarray data. Result: miR-129-5p was significantly downregulated in EOPD compared to LOPD with -4.2 fold change (p = <0.050. miR-301a-3p was upregulated in EOPD compared to healthy control (fold = 10.3, p = <0.05). In LOPD versus healthy control, miR-486-3p (fold = 15.28, p = <0.05), miR-29c-3p (fold = 12.21, p = <0.05) and miR-301a-3p (fold = 10.01, p =< 0.05) were upregulated. Conclusion: Several miRNA have been identified to be differentially expressed in EOPD compared to LOPD and PD versus control. These miRNAs could serve as the potential biomarkers for early diagnosis of PD. However, these miRNAs need to be validated in a larger sample size.

Keywords: early onset PD, late onset PD, microRNA (miRNA), microarray

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Authors: Freda Halim

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Endometriosis in bowel is rare condition, about 3-37% of endometriosis cases. Most of bowel endometriosis rising in the rectosigmoid (90% of bowel endometriosis). The incidence of caecal endometriosis is very low ( < 5% of bowel endometriosis) and almost never causing acute small bowel obstruction. The aim of this paper is to show that although bowel obstruction caused by caecal endometriosis is difficult to diagnose as it is rare, and may require laparotomy to make definite diagnosis, but it should be considered in infertile female patient. The case is 37 years old woman infertile woman with intestinal obstruction with pre-operative diagnosis total acute small bowel obstruction caused by right colonic mass, with sepsis as the complication. Before the acute small bowel obstruction, she complained of chronic right lower quadrant pain with chronic constipation alternate with chronic diarrhea, symptoms that happened both in bowel endometriosis and colorectal malignancy. She also complained of chronic pelvic pain and dysmenorrhea. She was married for 10 years with no child. The patient was never diagnosed with endometriosis and never seek medical attention for infertility and the chronic pelvic pain. The patient underwent Abdominal CT Scan, with results: massive small bowel obstruction, and caecal mass that causing acute small bowel obstruction. Diagnosis of acute small bowel obstruction due to right colonic mass was made, and exploratory laparotomy was performed in the patient. During the laparotomy, mass at caecum and ileocaecal that causing massive small bowel obstruction was found and standard right hemicolectomy and temporary ileostomy were performed. The pathology examination showed ectopic endometriosis lesions in caecum and ileocaecal valve. The histopathology also confirmed with the immunohistochemistry, in which positive ER, PR, CD 10 and CD7 was found the ileocaecal and caecal mass. In the second operation, reanastomosis of the ileum was done 3 months after the first operation. The chronic pelvic pain is decreasing dramatically after the first and second operation. In conclusion, although bowel obstruction caused by caecal endometriosis is a rare cause of intestinal obstruction, but it can be considered as a cause in infertile female patient

Keywords: acute, bowel obstruction, caecum, endometriosis

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Authors: Nicholas Marinus Batt, Angus Radford, Khaled Saraya

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Pulmonary Embolus Severity Index (PESI) score is a well-validated decision-making score grading mortality rates (MR) in patients with a suspected or confirmed diagnosis of pulmonary embolism (PE) into 5 classes. Thirty and 90 days MR in class I and II are lower allowing the treatment of these patients as outpatients. In a London District General Hospital (DGH) with mixed ethnicity and high disease burden, we looked at MR at 1, 3, and 7 days of all PESI score classes. Our pilot study of 112 patients showed MR of 0% in class I, II, and III. The current study includes positive Computed Tomographic Scans (CT scans) for PE over the following three years (total of 555). MR was calculated for all PESI score classes at 1, 3 & 7 days. Thirty days MR was additionally calculated to validate the study. Our initial results so far are in line with our pilot studies. Further subgroup analysis accounting for the local co-morbidities and disease burden and its impact on the MR will be undertaken.

Keywords: Pulmonary Embolism (PE), Pulmonary Embolism Severity Index (PESI) score, mortality rate (MR), CT pulmonary artery

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Authors: Alexandra McKinzie, Lucy Brown, Sarah Komanapalli, Sarah Swiezy, Caitlin Bernard

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Background: While 25% of US women will seek an abortion before age 45, targeted laws have led to a decline in abortion clinics, subsequently leaving 96% of Indiana counties and the 70% of Hoosier women residing in these counties without access to services they desperately need.1,2 Despite the need for a physician workforce that is educated and able to provide full-spectrum reproductive health care, few medical institutions have a standardized family planning and abortion pre-clinical curriculum. Methods: A Qualtrics survey was disseminated to students from Indiana University School of Medicine (IUSM) to evaluate (1) student interest in curriculum reform, (2) self-assessed preparedness to counsel on contraceptive and pregnancy options, and (3) preferred modality of instruction for family planning and abortion topics. Based on the pre-panel survey feedback, a case-based pregnancy options counseling panel will be implemented in the students’ pre-clinical, didactic course Endocrine, Reproductive, Musculoskeletal, Dermatologic Systems (ERMD) in February 2022. A Qualtrics post-panel survey will be disseminated to evaluate students’ perceived efficacy and quality of the panel, as well as their self-assessed preparedness to counsel on pregnancy options. Results: Participants in the pre-panel survey (n=303) were primarily female (61.72%) and White (74.43%). Across all class levels, many (60.80%) students expected to learn about family planning and abortion in their pre-clinical education. While most (84-88%) participants felt prepared to counsel about common, non-controversial pharmacotherapies (e.g. beta-blockers and diuretics), only 20% of students felt prepared to counsel on abortion options. Overall, 85.67% of students believed that IUSM should enhance its reproductive health coverage in pre-clinical, didactic courses. Traditional lectures, panels, and direct clinical exposure were the most popular instructional modalities. Expected Results: The authors predict that following the panel, students will indicate improved confidence in providing pregnancy options counseling. Additionally, students will provide constructive feedback on the structure and content of the panel for incorporation into future years’ curriculum. Conclusions: IUSM students overwhelmingly expressed interest in expanding their pre-clinical curriculum’s coverage of family planning and abortion topics. To specifically improve students’ self-assessed preparedness to provide pregnancy options counseling and address students’ self-cited learning gaps, a case-based provider panel session will be implemented in response to students’ preferred modality feedback.

Keywords: options counseling, family planning, abortion, curriculum reform, case-based panel

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Authors: Hamdan Hamood Aldumaini, Amjad Hussein Meqdam, Shamsaldeen kassim Ali, Hamed Mohammed Al-Yousefi, Haron Ahmed Al-Badawi

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Background: Autism Spectrum Disorder (ASD) is a complex developmental challenge characterized by significant impairments in social interaction, communication, and behavioral patterns. Diagnosing ASD is challenging due to the lack of definitive medical tests, making early identification crucial. Therefore, increasing people's awareness about autism leads to early diagnosis and better prognosis. Objective: Our study aims to identify the initial symptoms prompting families to seek medical advice, determine the timeline between symptom onset and formal diagnosis, and explore methods for assessing the severity of ASD. Subjects and Methods: The study design employed was a descriptive cross-sectional design, which was suitable for the nature of the research. The data collection took place from March 5, 2022, to April 5, 2022, in Autism Rehabilitation Centers in Sana'a, Yemen. The study population consisted of all children who were diagnosed with autism and visited Autism rehabilitation centers in Sana'a city. The sample size was determined using Epi info version 7, and a total population of 587 autistic children attending the treatment was calculated, but only 250 children were included in this study (176 were male vs. 74 female). Result: In terms of sociability problems, it was found that a significant proportion of Yemeni children with autism experienced difficulties in this area. Specifically, 39.6% were classified as having severe sociability problems, while 28.4% were classified as having moderate issues. Sensory-cognitive awareness problems were also prevalent among the respondents, with 29.6% exhibiting severe difficulties in this domain. Health and physical problems were identified as significant concerns for Yemeni children with autism. The results indicated that 38.4% of the participants experienced severe health and physical issues. Identifying the first symptoms of autism is crucial for early detection and intervention. According to the study, speech delay was the most commonly observed first abnormality, reported by 71.3% of parents. Communication difficulties with others were the second most noticed abnormality, reported by 54.9% of parents. Repetitive movements were the third most commonly observed abnormality, reported by 18% of parents. Regarding the awareness among parents of ASD, our study showed that a significant portion (62%) of parents lack awareness about Autism Spectrum Disorder (ASD) and its causes. Surprisingly, a majority of these parents (over 80%) believe that autism is a curable condition. Additionally, more than half (51.2%) of the parents surveyed reported insufficient knowledge about medication options available to support therapy and rehabilitation for their autistic children.

Keywords: autism characteristics, rehabilitation centres, yemen, children

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Authors: Chung-Ming Lo, Kevin Li-Chun Hsieh

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The central nervous system in the World Health Organization defines grade 2, 3, 4 gliomas according to the aggressiveness. For brain tumors, using image examination would have a lower risk than biopsy. Besides, it is a challenge to extract relevant tissues from biopsy operation. Observing the whole tumor structure and composition can provide a more objective assessment. This study further proposed a computer-aided diagnosis (CAD) system based on a convolutional neural network to quantitatively evaluate a tumor's malignancy from brain magnetic resonance imaging. A total of 30 grade 2, 43 grade 3, and 57 grade 4 gliomas were collected in the experiment. Transferred parameters from AlexNet were fine-tuned to classify the target brain tumors and achieved an accuracy of 98% and an area under the receiver operating characteristics curve (Az) of 0.99. Without pre-trained features, only 61% of accuracy was obtained. The proposed convolutional neural network can accurately and efficiently classify grade 2, 3, and 4 gliomas. The promising accuracy can provide diagnostic suggestions to radiologists in the clinic.

Keywords: convolutional neural network, computer-aided diagnosis, glioblastoma, magnetic resonance imaging

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Authors: Junaid Ahmed, Nandita Shenoy

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Maintaining lifelong knowledge and skills is essential for safe clinical practice. Continuing Professional Development (CPD) is an established method that can facilitate lifelong learning. It focuses on maintaining or developing knowledge, skills and relationships to ensure competent practice.To date, relatively little has been done to comprehensively and systematically synthesize evidence to identify subjects of interest among practising dentist. Hence the aim of our study was to identify areas in clinical practice that would be favourable for continuing professional dental education amongst practicing dentists. Participants of this study consisted of the practicing dental surgeons of Mangalore, a city in Dakshina Kannada, Karnataka. 95% of our practitioners felt that regular updating as a one day program once in 3-6 months is required, to keep them abreast in clinical practice. 60% of subjects feel that CPD programs enrich their theoretical knowledge and helps in patient care. 27% of them felt that CPD programs should be related to general dentistry. Most of them felt that CPD programs should not be charged nominally between one to two thousand rupees. The acronym ‘CPD’ should be seen in a broader view in which professionals continuously enhance not only their knowledge and skills, but also their thinking,understanding and maturity; they grow not only as professionals, but also as persons; their development is not restricted to their work roles, but may also extend to new roles and responsibilities.

Keywords: continuing professional development, competent practice, dental education, practising dentist

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Authors: Clesse C., Lighezzolo-Alnot J., De Lavergne S.

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Considered as the most common surgical procedure worldwide, episiotomy can be defined as an incision around the vulva performed to enlarge it, in the aim of preventing the traumatic rupture of the perineum during childbirth. Rather mediatized, this practice raises many questions in the field of mental health, relayed by different users and health professionals. Today, is topicality is moderately hectic since many queries about the prophylactic exercise of episiotomy are subject to a relative consensus, particularly since WHO advocated in 1996 that only 10% of childbirths should involve an episiotomy. This indicator appeared after the publication of numerous results from randomized clinical trials. Unfortunately, these papers seem mostly centered about somatic impacts of episiotomy. From the side of psychological studies, they mostly integrate a major clinical methodological bias, especially considering that every primiparous woman is identical to the others face to the experience of parturition. In the aim to fill this lack of knowledge, we developed a longitudinal research starting in the 7th month of pregnancy and ending one year after delivery. We are studying in a comparative way different possible psychological consequences inherent to the use of episiotomy. To do this, we use a standardized methodology which combines semi-structured clinical interviews (IRMAG, IRMAN ...), free clinical interviews, a projective test (Rorschach) and five questionnaires (QIC, EPDS, CPQ WOMBLSQ4, SF36). Therefore, we can comprehend with shrewdness the question of psychic impacts of episiotomy in a qualitative and quantitative way by comparing it to other obstetric interventions. In this paper, we will present the first results obtained about a population of twenty-two primiparous women by focusing on body image, sexuality, quality of life, depressive affects, post-traumatic stress disorder and investment of the maternal role. Finally, we will consider the different implications and perspectives of this research which could improve the public health policies in the field of perinatal care.

Keywords: assessment, episiotomy, mental health, psychical impacts

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Authors: Jie Huo, Jonathan Wu

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Segmentation of anatomical structures in medical images is essential for scientific inquiry into the complex relationships between biological structure and clinical diagnosis, treatment and assessment. As a method of incorporating the prior knowledge and the anatomical structure similarity between a target image and atlases, multi-atlas segmentation has been successfully applied in segmenting a variety of medical images, including the brain, cardiac, and abdominal images. The basic idea of multi-atlas segmentation is to transfer the labels in atlases to the coordinate of the target image by matching the target patch to the atlas patch in the neighborhood. However, this technique is limited by the pairwise registration between target image and atlases. In this paper, a novel multi-atlas segmentation approach is proposed by introducing a dynamic energy model. First, the target is mapped to each atlas image by minimizing the dynamic energy function, then the segmentation of target image is generated by weighted fusion based on the energy. The method is tested on MICCAI 2012 Multi-Atlas Labeling Challenge dataset which includes 20 target images and 15 atlases images. The paper also analyzes the influence of different parameters of the dynamic energy model on the segmentation accuracy and measures the dice coefficient by using different feature terms with the energy model. The highest mean dice coefficient obtained with the proposed method is 0.861, which is competitive compared with the recently published method.

Keywords: brain MRI segmentation, dynamic energy model, multi-atlas segmentation, energy minimization

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Authors: Lakhoua Najeh

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Introduction: In most situations, an industrial system already existing, conditioned by its history, its culture and its context are in difficulty facing the necessity to restructure itself in an organizational and technological environment in perpetual evolution. This is why all operations of restructuring first of all require a diagnosis based on a functional analysis. After a presentation of the functionality of a supervisory system for complex processes, we present the concepts of industrial automation and supervisory control and data acquisition (SCADA). Methods: This global analysis exploits the various available documents on the one hand and takes on the other hand in consideration the various testimonies through investigations, the interviews or the collective workshops; otherwise, it also takes observations through visits as a basis and even of the specific operations. The exploitation of this diagnosis enables us to elaborate the project of restructuring thereafter. Leaving from the system analysis for the restructuring of industrial systems, and after a technical diagnosis based on visits, an analysis of the various technical documents and management as well as on targeted interviews, a focusing retailing the various levels of analysis has been done according a general methodology. Results: The methodology adopted in order to contribute to the restructuring of industrial systems by its participative and systemic character and leaning on a large consultation a lot of human resources that of the documentary resources, various innovating actions has been proposed. These actions appear in the setting of the TQM gait requiring applicable parameter quantification and a treatment valorising some information. The new management environment will enable us to institute an information and communication system possibility of migration toward an ERP system. Conclusion: Technological advancements in process monitoring, control and industrial automation over the past decades have contributed greatly to improve the productivity of virtually all industrial systems throughout the world. This paper tries to identify the principles characteristics of a process monitoring, control and industrial automation in order to provide tools to help in the decision-making process.

Keywords: automation, supervision, SCADA, TQM

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Authors: Patrice L. Weiss, Barbara Mazer, Tal Krasovsky, Naomi Gefen

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Knowledge translation (KT) involves the process of applying the most promising research findings to practical settings, ensuring that new technological discoveries enhance healthcare accessibility, effectiveness, and accountability. This perspective paper aims to discuss and provide examples of how the KT process can be implemented during a time of rapid advancement in rehabilitation technologies, which have the potential to greatly influence pediatric healthcare. The analysis is grounded in a comprehensive systematic review of literature, where key studies from the past 34 years were carefully interpreted by four expert researchers in scientific and clinical fields. This review revealed both theoretical and practical insights into the factors that either facilitate or impede the successful implementation of new rehabilitation technologies. By utilizing the Knowledge-to-Action cycle, which encompasses the knowledge creation funnel and the action cycle, we demonstrated its application in integrating advanced technologies into clinical practice and guiding healthcare policy adjustments. We highlighted three successful technology applications: powered mobility, head support systems, and telerehabilitation. Moreover, we investigated emerging technologies, such as brain-computer interfaces and robotic assistive devices, which face challenges related to cost, durability, and usability. Recommendations include prioritizing early and ongoing design collaborations, transitioning from research to practical implementation, and determining the optimal timing for clinical adoption of new technologies. In conclusion, this paper informs, justifies, and strengthens the knowledge translation process, ensuring it remains relevant, rigorous, and significantly contributes to pediatric rehabilitation and other clinical fields.

Keywords: knowledge translation, rehabilitation technology, pediatrics, barriers, facilitators, stakeholders

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Authors: Maggie Hall, Haley O'Neill

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The U.S. faces a severe shortage of abortion providers, exacerbated by the June 2022 Dobbs v. Jackson Women’s Health Organization decision. Midwives, especially certified nurse midwives, are well-positioned to fill this gap in abortion care. However, a lack of clinical education and training prevents midwives from exercising their full scope of practice. National and international organizations that set obstetrics and midwifery education standards, including the International Confederation of Midwives, American College of Obstetricians and Gynecologists, and American Public Health Association, call for expansion of midwifery-managed abortion care through the first trimester. In the U.S., midwifery programs are accredited based on compliance with ACME standards and compliance is a prerequisite for the American Midwifery Certification Board exams. We conducted a literature review of studies in the last five years regarding abortion didactic and clinical education barriers via CINAHL, EBSCO and PubMed database reviews. We gave preference for primary sources within the last five years; however, due to the rapid changes in abortion education and access, we also included literature from 2012-2022. We evaluated ACME-accredited programs in relation to their geography within abortion-protected or restricted states and assessed state-specific barriers to abortion care education and provision as clinical students. There are 43 AMCB-accredited midwifery schools in 28 states across the U.S. Twenty schools (47%) are in the 15 states in which advanced practice clinicians can provide non-surgical abortion care, such as medication abortion and MVA procedures. Twenty-four schools (56%) are in the 16 states in which abortion care provision is restricted to Licensed Physicians and cannot offer in-state clinical training opportunities for midwifery students. Six schools are in the five states in which abortion is completely banned and are geographically concentrated in the southernmost region of the U.S., including Alabama, Kentucky, Louisiana, Tennessee, and Texas. Subsequently, these programs cannot offer in-state clinical training opportunities for midwifery students. Notably, there are seven ACME programs in six states that do not restrict abortion access by gestational age, including Colorado, Connecticut, Washington, D.C., New Jersey, New Mexico, and Oregon. These programs may be uniquely positioned for midwifery involvement in abortion care beyond the first trimester. While the following states don’t house ACME programs, abortion care can be provided by advanced practice clinicians in Rhode Island, Delaware, Hawaii, Maine, Maryland, Montana, New Hampshire, and Vermont, offering clinical placement and/or new ACME program development opportunities. We identify existing barriers to clinical education and training opportunities for midwifery-managed abortion care, which are both geographic and institutional in nature. We recommend expansion and standardization of clinical education and training opportunities for midwifery-managed abortion care in ACME-accredited programs to improve access to abortion care. Midwifery programs and teaching hospitals need to expand education, training, and residency opportunities for midwifery students to strengthen access to midwife-managed abortion care. ACNM and ACME should re-evaluate accreditation criteria and the implications of ACME programs in states where students are not able to learn abortion care in clinical contexts due to state-specific abortion restrictions.

Keywords: midwifery education, abortion, abortion education, abortion access

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Authors: Yaxian Chen, Yeonhee Park

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Driven by evolving FDA recommendations, modern clinical trials demand innovative designs that strike a balance between statistical rigor and ethical considerations. Covariate-adjusted response-adaptive (CARA) designs bridge this gap by utilizing patient attributes and responses to skew treatment allocation in favor of the treatment that is best for an individual patient’s profile. However, existing CARA designs for survival outcomes often hinge on specific parametric models, constraining their applicability in clinical practice. In this article, we address this limitation by introducing a CARA design for survival outcomes (CARAS) based on the Cox model and a variance estimator. This method addresses issues of model misspecification and enhances the flexibility of the design. We also propose a group sequential overlapweighted log-rank test to preserve type I error rate in the context of group sequential trials using extensive simulation studies to demonstrate the clinical benefit, statistical efficiency, and robustness to model misspecification of the proposed method compared to traditional randomized controlled trial designs and response-adaptive randomization designs.

Keywords: cox model, log-rank test, optimal allocation ratio, overlap weight, survival outcome

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Authors: Uswah Ahmad Khan, Muhammad Moazam Fraz, Humayoon Shafique Satti, Qasim Aziz

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Approximately 10-14% of the global population experiences a functional disorder known as irritable bowel syndrome (IBS). The disorder is defined by persistent abdominal pain and an irregular bowel pattern. IBS significantly impairs work productivity and disrupts patients' daily lives and activities. Although IBS is widespread, there is still an incomplete understanding of its underlying pathophysiology. This study aims to help characterize the phenotype of IBS patients by differentiating the comorbidities found in IBS patients from those in non-IBS patients using machine learning algorithms. In this study, we extracted samples coding for IBS from the UK BioBank cohort and randomly selected patients without a code for IBS to create a total sample size of 18,000. We selected the codes for comorbidities of these cases from 2 years before and after their IBS diagnosis and compared them to the comorbidities in the non-IBS cohort. Machine learning models, including Decision Trees, Gradient Boosting, Support Vector Machine (SVM), AdaBoost, Logistic Regression, and XGBoost, were employed to assess their accuracy in predicting IBS. The most accurate model was then chosen to identify the features associated with IBS. In our case, we used XGBoost feature importance as a feature selection method. We applied different models to the top 10% of features, which numbered 50. Gradient Boosting, Logistic Regression and XGBoost algorithms yielded a diagnosis of IBS with an optimal accuracy of 71.08%, 71.427%, and 71.53%, respectively. Among the comorbidities most closely associated with IBS included gut diseases (Haemorrhoids, diverticular diseases), atopic conditions(asthma), and psychiatric comorbidities (depressive episodes or disorder, anxiety). This finding emphasizes the need for a comprehensive approach when evaluating the phenotype of IBS, suggesting the possibility of identifying new subsets of IBS rather than relying solely on the conventional classification based on stool type. Additionally, our study demonstrates the potential of machine learning algorithms in predicting the development of IBS based on comorbidities, which may enhance diagnosis and facilitate better management of modifiable risk factors for IBS. Further research is necessary to confirm our findings and establish cause and effect. Alternative feature selection methods and even larger and more diverse datasets may lead to more accurate classification models. Despite these limitations, our findings highlight the effectiveness of Logistic Regression and XGBoost in predicting IBS diagnosis.

Keywords: comorbidities, disease association, irritable bowel syndrome (IBS), predictive analytics

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Authors: Ng Yen, Shafii Khamis, Rehir Bin Dahalan

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Cyclotrons in the energy range 10-30 MeV are widely used for the production of clincally relevant radiosiotopes used in positron emission tomography (PET) nuclear imaging. Positron emmision tomography is a powerful nuclear imaging tool that produces high quality 3-dimentional images of functional processes of body. The advantage of PET among all other imaging devices is that it allows the study of an impressive array of discrete biochemical and physiologic processes, within a single imaging session. The number of PET scanner increases every year globally due to high clinical demand. However, not all PET centers can afford a cyclotron, due to the expense associated with operation of an in-house cyclotron. Therefore, current research has also focused on the development of parent/daughter generators that can reliably provide PET nuclides. These generators (68Ge/68Ga generator, 62Zn/62Cu, 82Sr/82Rb, etc) can provide even short-lived radionuclides at any time on demand, without the need of an ‘in-house cyclotron’. The parent isotope is produced at a cyclotron/reactor facility, and can be shipped to remote clinical sites (regionally/overseas), where the daughter isotope is eluted, a model similar to the 99Mo/99mTc generator system. The specific aim for this presentation is to talk about the potential for both of the cyclotron and generator-produced PET radiopharmaceuticals used in clinical imaging.

Keywords: positron emission tomography, radiopharmaceutical, cyclotron, generator

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Authors: Célia Barreto Carvalho, Carolina da Motta, Marina Sousa, Joana Cabral, Ana Luísa Carvalho, Ermelindo Peixoto

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The aim of the current study was to develop and validate a Response to Stressful Situations Scale (RSSS) for the Portuguese population. This scale assesses the degree of stress experienced in scenarios that can constitute positive, negative and more neutral stressors, and also describes the physiological, emotional and behavioral reactions to those events according to their intensity. These scenario include typical stressor scenarios relevant to patients with schizophrenia, which are currently absent from most scale, assessing specific risks that these stressors may bring on subjects, which may prove useful in non-clinical and clinical populations (i.e. patients with mood or anxiety disorders, schizophrenia). Results from Principal Components Analysis and Confirmatory Factor Analysis of on two adult samples from general population allowed to confirm a three-factor model with good fit indices: χ2 (144)= 370.211, p = 0.000; GFI = 0.928; CFI = 0.927; TLI = 0.914, RMSEA = 0.055, P( rmsea ≤ 0.005) = 0.096; PCFI = 0.781. Further data analysis on the scale revealed that RSSS is an adequate assessment tool of stress response in adults to be used in further research and clinical settings, with good psychometric characteristics, adequate divergent and convergent validity, good temporal stability and high internal consistency.

Keywords: assessment, stress events, stress response, stress vulnerability

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Authors: Yutong Wan, John N. Wood

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Introduction: SCN9A encoded Nav1.7 is an ideal therapeutic target with minimal side effects for the pharmaceutical industry because SCN9A variants can cause both human gains of function pain-related mutations and loss of function pain-free mutations. This study reviews the clinical effectiveness of existing Nav1.7 inhibitors, which theoretically should be powerful analgesics. Methods: A systematic review is conducted on the effectiveness of current Nav1.7 blockers undergoing clinical trials. Studies were mainly extracted from PubMed, U.S. National Library of Medicine Clinical Trials, World Health Organization International Clinical Trials Registry, ISRCTN registry platform, and Integrated Research Approval System by NHS. Only studies with full text available and those conducted using double-blinded, placebo controlled, and randomised designs and reporting at least one analgesic measurement were included. Results: Overall, 61 trials were screened, and eight studies covering PF 05089771 (Pfizer), TV 45070 (Teva & Xenon), and BIIB074 (Biogen) met the inclusion criteria. Most studies were excluded because results were not published. All three compounds demonstrated insignificant analgesic effects, and the comparison between PF 05089771 and pregabalin/ibuprofen showed that PF 05089771 was a much weaker analgesic. All three drug candidates only have mild side effects, indicating the potentials for further investigation of Nav1.7 antagonists. Discussion: The failure of current Nav1.7 small molecule inhibitors might attribute to ignorance of the key role of endogenous systems in Nav1.7 null mutants, the lack of selectivity and blocking potency, and central impermeability. The synergistic combination of analgesic drugs, a recent UCL patent, combining a small dose of Nav1.7 blockers and opioids or enkephalinase inhibitors dramatically enhanced the analgesic effects. Conclusion: The current clinical testing Nav1.7 blockers are generally disappointing. However, the newer generation of Nav1.7 targeting analgesics has overcome the major constraints of its predecessors.

Keywords: chronic pain, Nav1.7 blockers, SCN9A, systematic review

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Authors: Sally Shepherd, Richard De Boer, Craig Murphy

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Background: Invasive lobular carcinoma (ILC) can metastasize to atypical sites within the peritoneal cavity, gastrointestinal, or genitourinary tract. Management varies depending on the symptom presentation, extent of disease burden, particularly if the primary disease is occult, and patient wishes. Case Series: 6 patients presented with general surgical presentations of ILC, including incomplete large bowel obstruction, cholecystitis, persistent lower abdominal pain, and faecal incontinence. 3 were diagnosed with their primary and metastatic disease in the same presentation, whilst 3 patients developed metastasis from 5 to 8 years post primary diagnosis of ILC. Management included resection of the metastasis (laparoscopic cholecystectomy), excision of the primary (mastectomy and axillary clearance), followed by a combination of aromatase inhibitors, biologic therapy, and chemotherapy. Survival post diagnosis of metastasis ranged from 3 weeks to 7 years. Conclusion: Metastatic ILC must be considered with any gastrointestinal or genitourinary symptoms in patients with a current or past history of ILC. Management may not be straightforward to chemotherapy if the acute pathology is resulting in a surgically resectable disease.

Keywords: breast cancer, gastrointestinal metastasis, invasive lobular carcinoma, metastasis

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Authors: Maryam Risla Shahul Hameed, Tharsiga Yogarajah, Fritzy Mathew, Tayyaba Syed, Shalin Shaunak

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Aim: Auditing the adherence of Trauma and Orthopaedics Operative notes to the RCS Good Surgical Practice Guidelines. Method: Clinical audit conducted on 150 operative notes over a period of 2 months April- May 2023, including emergency and elective surgeries performed in Ashford and St. Peter’s Hospital. The RCS Good Practice Surgical Guidelines for an ideal operative note were used to compare.Results: Date of the procedure and signature of the surgeon were mentioned in all the notes by default in the electronic template being used. Title of the operation performed and whether elective or emergency were mentioned by 92% and 45%, respectively. Name of theatre anaesthetist and operating surgeons were mentioned by 73% and 93% respectively. Time of surgery mentioned by 26%. Operative findings and operative diagnosis mentioned by 83% and 53% respectively. Incision and complications of surgery mentioned in 80% and 53%, respectively. Details of tissue added/ altered/ removed mentioned by 46%. Information on prosthesis or implant used is mentioned by 54%. Details of closure and anticipated blood loss mentioned in 91% and 45% respectively. Antibiotic prophylaxis was mentioned by 63%, out of which only 23% mentioned the name and duration of the antibiotic. VTE prophylaxis was mentioned by 84%, out of which only 23% and 29% mentioned the name and duration of the prophylaxis, respectively. Conclusion: There is more for improvement in the operative notes for better continuity of care between the operating surgeons and other doctors in the wards taking care of the patients post operatively. We recommend to follow a standardized guidelines by all the nationwide and a standard template to be followed by all.

Keywords: surgery, notes, RCS, guidelines

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Authors: Mousa Saleh Daoud

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Rickets is a condition that affects the development of bones in children. It causes soft bones, which can become bowed or curved, this bending and curvature is evident in the age of Walking. The most common cause of rickets is dietary deficiency of vitamin D or Lack of exposure to sunlight or both together. The link between vitamin D and rickets has been known for many years and is well understood by doctors and scientists. If a child does not get enough of the vitamin D, the bones cannot form hard outer shells. This is why they become soft and weak. This study was conducted on children who reviewed by our medical clinic between the years 2011-2013. The study included 400 children, aged between one and six years. 11 children had clear clinical manifestations of rickets of varying degrees and all of them due to lack of vitamin D except for one case of rickets resistant to vitamin D. 389 cases ranged between natural and deficiency in vitamin D without clinical manifestations of Rickets.

Keywords: rickts, bone metabolic diseases, vitamin D, child

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Authors: Leonardo C. Pacheco-Londoño, Nataly J. Galan-Freyle, Lisandro Pacheco-Lugo, Antonio Acosta, Elkin Navarro, Gustavo Aroca-Martínez, Karin Rondón-Payares, Samuel P. Hernández-Rivera

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In our Life Science Research Center of the University Simon Bolivar (LSRC), one of the focuses is the diagnosis and prognosis of different diseases; we have been implementing the use of gold nanoparticles (Au-NPs) for various biomedical applications. In this case, Au-NPs were used for Surface-Enhanced Raman Spectroscopy (SERS) in different diseases' diagnostics, such as Lupus Nephritis (LN), hypertension (H), preeclampsia (PC), and others. This methodology is proposed for the diagnosis of each disease. First, good signals of the different metabolites by SERS were obtained through a mixture of urine samples and Au-NPs. Second, PLS-DA models based on SERS spectra to discriminate each disease were able to differentiate between sick and healthy patients with different diseases. Finally, the sensibility and specificity for the different models were determined in the order of 0.9. On the other hand, a second methodology was developed using machine learning models from all data of the different diseases, and, as a result, a discriminant spectral map of the diseases was generated. These studies were possible thanks to joint research between two university research centers and two health sector entities, and the patient samples were treated with ethical rigor and their consent.

Keywords: SERS, Raman, PLS-DA, diseases

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Authors: Hilary Modir, Kyle Dutton, Michelle Swab, Shabnam Asghari

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Since its emergence, the cutaneous manifestations of COVID-19 have been documented in the literature. However, the majority are case reports with significant limitations in appraisal quality, thus leaving the role of dermatological manifestations of COVID-19 erroneously underexplored. The primary aim of this review was to systematically examine clinical patterns of dermatological manifestations as reported in the literature. This study was designed as a systematic review of case reports. The inclusion criteria consisted of all published reports and articles regarding COVID-19 in English, from September 1st, 2019, until June 22nd, 2020. The population consisted of confirmed cases of COVID-19 with associated cutaneous signs and symptoms. Exclusion criteria included research in planning stages, protocols, book reviews, news articles, review studies, and policy analyses. With the collaboration of a librarian, a search strategy was created consisting of a mixture of keyword terms and controlled vocabulary. Electronic databases searched were MEDLINE via PubMed, EMBASE, CINAHL, Web of Science, LILACS, PsycINFO, WHO Global Literature on Coronavirus Disease, Cochrane Library, Campbell Collaboration, Prospero, WHO International Clinical Trials Registry Platform, Australian and New Zealand Clinical Trials Registry, U.S. Institutes of Health Ongoing Trials Register, AAD Registry, OSF preprints, SSRN, MedRxiV and BioRxiV. The study selection featured an initial pre-screening of titles and abstracts by one independent reviewer. Results were verified by re-examining a random sample of 1% of excluded articles. Eligible studies progressed for full-text review by two calibrated independent reviewers. Covidence was used to store and extract data, such as citation information and findings pertaining to COVID-19 and cutaneous signs and symptoms. Data analysis and summarization methodology reflect the framework proposed by PRISMA and recommendations set out by Cochrane and Joanna Brigg’s Institute for conducting systematic reviews. The Oxford Centre for Evidence-Based Medicine’s level of evidence was used to appraise the quality of individual studies. The literature search revealed a total of 1221 articles. After the abstract and full-text screening, only 95 studies met the eligibility criteria, proceeding to data extraction. Studies were divided into 58% case reports and 42% series. A total of 833 manifestations were reported in 723 confirmed COVID-19 cases. The most frequent lesions were 23% maculopapular, 15% urticarial and 13% pseudo-chilblains, with 46% of lesions reporting pruritus, 16% erythema, 14% pain, 12% burning sensation, and 4% edema. The most common lesion locations were 20% trunk, 19.5% lower limbs, and 17.7% upper limbs. The time to resolution of lesions was between one and twenty-one days. In conclusion, over half of the reported cutaneous presentations in COVID-19 positive patients were maculopapular, urticarial and pseudo-chilblains, with the majority of lesions distributed to the extremities and trunk. As this review’s sample size only contained COVID-19 confirmed cases with skin presentations, it becomes difficult to deduce the direct relationship between skin findings and COVID-19. However, it can be correlated that acute onset of skin lesions, such as chilblains-like, may be associated with or may warrant consideration of COVID-19 as part of the differential diagnosis.

Keywords: COVID-19, cutaneous manifestations, cutaneous signs, general dermatology, medical dermatology, Sars-Cov-2, skin and infectious disease, skin findings, skin manifestations

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Authors: Bhavani Veasuvalingam

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Case-based learning (CBL) is a popular instructional method aimed to bridge theory to clinical practice. This study aims to explore CBL mixed modality curriculum in influencing students’ learning styles and strategies that support learning. An explanatory sequential mixed method study was employed with initial phase, 44-itemed Felderman’s Index of Learning Style (ILS) questionnaire employed across year one medical students (n=142) using convenience sampling to describe the preferred learning styles. The qualitative phase utilised three focus group discussions (FGD) to explore in depth on the multimodal learning style exhibited by the students. Most students preferred combination of learning stylesthat is reflective, sensing, visual and sequential i.e.: RSVISeq style (24.64%) from the ILS analysis. The frequency of learning preference from processing to understanding were well balanced, with sequential-global domain (66.2%); sensing-intuitive (59.86%), active- reflective (57%), and visual-verbal (51.41%). The qualitative data reported three major themes, namely Theme 1: CBL mixed modalities navigates learners’ learning style; Theme 2: Multimodal learners active learning strategies supports learning. Theme 3: CBL modalities facilitating theory into clinical knowledge. Both quantitative and qualitative study strongly reports the multimodal learning style of the year one medical students. Medical students utilise multimodal learning styles to attain the clinical knowledge when learning with CBL mixed modalities. Educators’ awareness of the multimodal learning style is crucial in delivering the CBL mixed modalities effectively, considering strategic pedagogical support students to engage and learn CBL in bridging the theoretical knowledge into clinical practice.

Keywords: case-based learning, learnign style, medical students, learning

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Authors: Rim Frikha, Nouha Bouayed, Afifa Sellami, Nozha Chakroun, Salima Daoud, Leila Keskes, Tarek Rebai

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Introduction: Recurrent pregnancy loss (RPL) defined as two or more pregnancy losses, is a serious clinical problem. Methylene-tetrahydro-folate-reductase (MTHFR) polymorphisms, commonly the variant C677T is recognized as an inherited thrombophilia which might affect embryonic development and pregnancy success and cause pregnancy complications as RPL. Material and Methods DNA was extracted from peripheral blood samples and PCR-RFLP was performed for the molecular diagnosis of the C677T MTHFR polymorphism among 70 patients (35 couples) with more than 2 fetal losses. Aims and Objective: The aim of this study is to determine the frequency of MTHFR C677T among Tunisian couples with RPL and to critically analyze the available literature on the importance of MTHFR polymorphism testing in the management of RPL. Result and comments: No C677T mutation was detected in the carriers of RPL. This result would be related to sample size and to different criteria (number of abortion), - The association between MTHFR polymorphisms and pregnancy complications has been reported but with controversial results. - A lack of evidence for MTHFR polymorphism testing previously recommended by ACMG (American College of Medical medicine). Our study highlights the importance of screening of MTHFR polymorphism since the real impact of such thrombotic molecular defect on the pregnancy outcome is evident. - Folic supplementation of these patients during pregnancy can prevent such complications and lead to a successful pregnancy outcome.

Keywords: methylenetetrahydrofolate reductase, C677T, recurrent pregnancy loss, genetic testing

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Authors: Sevinj Asgarova

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Within the last few decades, major advances in the field of prenatal testing have transpired yet little research regarding the experiences of mothers who chose to continue their pregnancies after prenatally receiving a diagnosis of Down Syndrome (DS) has been undertaken. Using social constructionism and interpretive description, this retrospective research study explores this topic from the point of view of the mothers involved and provides insight as to how the experience could be improved. Using purposive sampling, 23 mothers were recruited from British Columbia (n=11) and Ontario (n=12) in Canada. Data retrieved through semi-structured in-depth interviews were analyzed using inductive, constant comparative analysis, the major analytical techniques of interpretive description. Four primary phases emerged from the data analysis 1) healthcare professional-mothers communications, 2) initial emotional response, 3) subsequent decision-making and 4) an adjustment and reorganization of lifestyle to the preparation for the birth of the child. This study validates the individualized and contextualized nature of mothers’ decisions as influenced by multiple factors, with moral values/spiritual beliefs being significant. The mothers’ ability to cope was affected by the information communicated to them about their unborn baby’s diagnosis and the manner in which that information was delivered to them. Mothers used emotional coping strategies, dependent upon support from partners, family, and friends, as well as from other families who have children with DS. Additionally, they employed practical coping strategies, such as engaging in healthcare planning, seeking relevant information, and reimagining and reorganizing their lifestyle. Over time many families gained a sense of control over their situation and readjusted to the preparation for the birth of the child. Many mothers expressed the importance of maintaining positivity and hopefulness with respect to positive outcomes and opportunities for their children. The comprehensive information generated through this study will also provide healthcare professionals with relevant information to assist them in understanding the informational and emotional needs of these mothers. This should lead to an improvement in their practice and enhance their ability to intervene appropriately and effectively, better offering improved support to parents dealing with a diagnosis of DS for their child.

Keywords: continuing affected pregnancy, decision making, disability, down syndrome, eugenic social attitudes, inequalities, life change events, prenatal care, prenatal testing, qualitative research, social change, social justice

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Authors: Mohamed Aly, Aliaa Rehan Youssef, Emad Sawerees, Mounir Guirgis

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Relevance: Osteoarthritis (OA) is the most common degenerative disease seen in all populations. It causes disability and substantial socioeconomic burden. Evidence supports that exercise are the most effective conservative treatment for patients with OA. Therapists experience and clinical judgment play major role in exercise prescription and scientific evidence for this regard is lacking. The development of clinical prediction rules to identify patients who are most likely benefit from exercise may help solving this dilemma. Purpose: This study investigated whether body mass index and functional ability at baseline can predict patients’ response to a selected exercise program. Approach: Fifty-six patients, aged 35 to 65 years, completed an exercise program consisting of open kinetic chain strengthening and passive stretching exercises. The program was given for 3 sessions per week, 45 minutes per session, for 6 weeks Evaluation: At baseline and post treatment, pain severity was assessed using the numerical pain rating scale, whereas functional ability was being assessed by step test (ST), time up and go test (TUG) and 50 feet time walk test (50 FTW). After completing the program, global rate of change (GROC) score of greater than 4 was used to categorize patients as successful and non-successful. Thirty-eight patients (68%) had successful response to the intervention. Logistic regression showed that BMI and 50 FTW test were the only significant predictors. Based on the results, patients with BMI less than 34.71 kg/m2 and 50 FTW test less than 25.64 sec are 68% to 89% more likely to benefit from the exercise program. Conclusions: Clinicians should consider the described strengthening and flexibility exercise program for patents with BMI less than 34.7 Kg/m2 and 50 FTW faster than 25.6 seconds. The validity of these predictors should be investigated for other exercise.

Keywords: clinical prediction rule, knee osteoarthritis, physical therapy exercises, validity

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Authors: Drago Bratkovic, Curtis Gravance, David Ketteridge, Ravi Krishnan, Michael Imperiale

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The mucopolysaccharidoses (MPSs) are a group of lysosomal storage diseases that have a common defect in the catabolism of glycosaminoglycans (GAGs). MPS I is the most common of the MPS diseases. Manifestations of MPS I include coarsening of facial features, corneal clouding, developmental delay, short stature, skeletal manifestations, hearing loss, cardiac valve disease, hepatosplenomegaly, and umbilical and inguinal hernias. Treatments for MPS I restore or activate the missing or deficient enzyme in the case of enzyme replacement therapy (ERT) and haematopoietic stem cell transplantation (HSCT). Pentosan polysulfate sodium (PPS) is a potential treatment to improve bone and joint manifestations of MPS I. The mechanisms of action of PPS that are relevant to the treatment of MPS I are the ability to: (i) Reduce systemic and accumulated GAG, (ii) Reduce inflammatory effects via the inhibition of NF-kB, resulting in the reduction in pro-inflammatory mediators. (iii) Reduce the expression of the pain mediator nerve growth factor in osteocytes from degenerating joints. (iv) Inhibit the cartilage degrading enzymes related to joint dysfunction in MPS I. PPS is being evaluated as an adjunctive therapy to ERT and/or HSCT in an open-label, single-centre, phase 2 study. Patients are ≥ 5 years of age with a diagnosis of MPS I and previously received HSCT and/or ERT. Three white, female, patients with MPS I-Hurler, ages 14, 15, and 19 years, and one, white male patient aged 15 years are enrolled. All were diagnosed at ≤2 years of age. All patients received HSCT ≤ 6 months after diagnosis. Two of the patients were treated with ERT prior to HSCT, and 1 patient received ERT commencing 3 months prior to HSCT. Two patients received 0.75mg/kg and 2 patients received 1.5mg/kg of PPS. PPS was well tolerated at doses of 0.75 and 1.5 mg/kg to 47 weeks of continuous dosing. Of the 19 adverse events (AEs), 2 were related to PPS. One AE was moderate (pre-syncope) and 1 was mild (injection site bruising), experienced in the same patient. All AEs were reported as mild or moderate. There have been no SAEs. One subject experienced a COVID-19 infection and PPS was interrupted. The MPS I signature GAG fragments, sulfated disaccharide and UA-HNAc S, tended to decrease in 3 patients from baseline through Week 25. Week 25 GAG data are pending for the 4th patient. Overall, most biomarkers (inflammatory, cartilage degeneration, and bone turnover) evaluated in the 3 patients with 25-week assessments have indicated either no change or a reduction in levels compared to baseline. In 3 patients, there was a trend toward improvement in the 2MWT from baseline to Week 48 with > 100% increase in 1 patient (01-201). In the 3 patients that had Week 48 assessments, patients and proxies reported improvement in PGIC, including “worthwhile difference” (n=1), or “made all the difference” (n=2).

Keywords: MPS I, pentosan polysulfate sodium, clinical study, 2MWT, QoL

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