bluuebunny/crossref_metadata_2025 huggingface dataset:
Facilitating Cancer Care Through Ayushman Bharat Scheme (PMJAY) in Rural Places of India: A Narrative Review
Authors: Sinha Sujeet Kumar , Singh Pritanjali , Sinha Arkaprava
Published: May 2023

Pradhan Mantri Jan Arogya Yojana (PMJAY) also known as Ayushman Bharat or flagship National Health Protection Scheme is funded by the Government of India. The scheme takes into account not only the poor but rural families also, and that is why it is economically beneficial to the poor households in rural and urban areas. Either due to lack of funds or due to paucity of health care facilities at adjacent centres, cancer care in rural areas has always been suboptimal. Poor people are almost always on the verge of facing economic toxicities during cancer diagnosis, treatment or rehabilitation. Despite various available regional and national programs for healthcare in India, lack of insurance scheme was an inseparable problem. Ayushman Bharat scheme provides financial protection for access curative care at secondary and tertiary levels through engagement with both public and private sector. Pradhan Mantri Jan Arogya Yojana (PM-JAY) and Health and Wellness Centres (HWCs) are the two major components. Ayushman Bharat provides India with a great opportunity to improve the quality of health-care delivery by linking reimbursements directly to adherence to evidence-based management guidelines. Newer modalities of radiotherapy, chemotherapy and other biological therapies have been included under this scheme. Removes the burden of out of pocket expenditures. In Spite of multiple benefits PMJAY is not out of fallacies. Paucity of health care services, difficulties with implementation, failure in compensating associated indirect costs are the major drawbacks. Opportunities like delivering affordable and equitable cancer care in India, digitalization, removing heterogeneity across rural and urban India are the future perspectives. To conclude, if PMJAY can overcome these shortcomings, and also incorporate a hospital cash component, it could genuinely claim to be the world’s largest and most successful national health protection scheme.
Painless Endoscopic Repair of Duodenal Ulcer Perforation: A Case Report
Authors: Yin Wang , Wen-Jie Du
Published: May 2023

This paper reports a case of duodenal ulcer (A1 stage) after general gastroscopy, when the patient left hospital without discomfort, but felt persistent aggravated abdominal pain in about 20 minutes, so admitted to the emergency department due to perforation of duodenal ulcer showed by CT, and aspirated by CO2 air pump under general anesthesia in the operating room four hours later, performed painless endoscopic perforation repair. Then, he released pneumatosis by puncture, and accepted ten days symptomatic treatment such as anti-infection following fasting water and gastric tube insertion, after that recovered and discharged from hospital, avoiding surgery, which supplements endoscopic minimally invasive treatment for perforation of duodenal ulcer in China.
Clinicopathological Characteristics of non-WNT/non-SHH Medulloblastoma Cases in a Pediatric Egyptian Cohort
Authors: Hamam Soheir M. , Abdelzaher Eman , Nassra Rasha A. , Fadel Shady H. , Sharafeldin Hend A.
Published: May 2023

Objective: Medulloblastoma is the most common malignant pediatric brain tumor. It has a great impact on global health. Although, current treatment modalities improve patients` survival rates, survivors suffer from long term treatment related morbidity. Major advances have changed molecular understanding of medulloblastoma with the emergence of the molecular classification of medulloblastoma that has been introduced in WHO classification of CNS tumors. Non-WNT/non-SHH molecular subgroup is the most common molecular subgroup representing more than 60% of medulloblastoma cases. The present study aims to describe the clinical, pathological, and survival characteristics of pediatric patients with non-WNT/non-SHH MB. Results: A total of 36 non-WNT/non-SHH MB cases were detected. The age of the patients ranged between 2 to 18 years. 14 patients (39%) were standard risk while 22 patients (61%) were high risk. Microscopic evaluation showed that 34 cases (94.4%) were of classic histology, while 2 cases (5.6%) were of LC/A histology. The 5-year overall survival of the 36 non-WNT/non-SHH cases detected was 55% and the 5-year event free survival was 40%. Conclusion: The clinical, pathological, and molecular characteristics of pediatric patients with non-WNT/non-SHH molecular subgroup of medulloblastoma described in the present study were mostly similar to those reported in the literature.
Contribution of Mammography in the Screening of Suspicious Breast Cancer Lesions in Congolese Women in Kinshasa
Authors: Minouche Cynthia , Mukaya Jean , Mbongo Alphonse , Mbongo Angèle , Luyeye Gertrude , Mazoba Tacite , Molua Antoine , Lelo Michel
Published: May 2023

Background: Mammography is a particular mammary imaging technique, an important tool for screening, diagnosis and monitoring of breast disease in general and breast cancer in particular, for which incidence and mortality are well established. Several studies have shown a reduction in breast cancer mortality reaching 40% in women screened by mammography. Thus, the prognosis after treatment is better because of early detection. In the DRC, in developing countries, the mortality rate is high because the diagnosis is late and therefore responsible for a bad prognosis. However, no studies on early detection by mammography have been performed to our knowledge. Our goal was to determine the mammography contribution in suspicious lesions detection of breast cancer in Kinshasa. Method: A retrospective and descriptive study of 1738 mammograms at the Gombe Imaging Center from January 2012 to December 2015. The reports were prepared by radiologists. We re-read approximately 230 images under supervision to complete the missing data related to interpretation. Age, clinical information, breast density (BIRADS type), elemental or associated lesions, and ACR radiological diagnosis were the key parameters collected on an epidemiological data questionnaire and analyzed on the SPSS 20 software.Results: 347 screening mammograms or 20% were performed with an average age of 48.6 years ; 25 of these (7.2%) had mammographic lesions suspected of malignancy, among which 23 were considered in situ. In addition, our study showed that high breast density is a radiologically visible risk factor. Conclusion: This study has shown that mammography is a tool to integrate into cancer screening in our country. Because it allowed to detect suspicious lesions in asymptomatic women.
Correlation between Germinal Center Differentiation and Double/Triple Hit Score in the Classification of Diffuse Large B Cell Non-Hodgkin Lymphoma: A Clinicopathological Approach
Authors: Abdel Razek Okap Israa Sobhy , Ahmed Tayel Hanan Yehia , Abd El-Latif Amany Abd El-Bary , Mohamed Nafea Dalia Ahmed , Razek Mashali Nagwa Abdel
Published: May 2023

Background: Diffuse large B cell lymphoma (DLBCL) is considered the most common type of non-Hodgkin lymphoma. The global incidence of DLBCL has been doubled in the past decades, highlighting the need for more effective treatment regimens. The curability of DLBCL is heavily influenced by a number of factors, such as the age, the international prognostic index (IPI) score, the molecular cell of origin (COO) subtype, and presence/ absence of specific chromosomal rearrangements or protein expression. Recent gene profiling studies have classified DLBCL into two main categories, germinal center B-cell type (GCB) and activated B-cell type (ABC). Validation of these subtypes has become more applicable after the immunohistochemical algorithm suggested by Hans, which included three commercially available markers, CD10, BCL6, and MUM-1/IRF4. In addition to this classification, DLBCL prognostic models based on different sets of genes or immunohistochemical markers have been proposed. More recently, DLBCLs with translocations of MYC, along with a B-cell lymphoma 2 (BCL2) and/or B-cell lymphoma 6 (BCL6) rearrangement, are now called double-hit lymphoma (DHL) or triple-hit lymphoma (THL), respectively. Furthermore, the co-expre sion of MYC and BCL2 proteins without underlying rearrangements is considered a new adverse prognostic indicator termed double-expressor lymphoma (DEL). The present study is aiming to combine morphological, immunophenotypical, and genetic features of DLBCLs to reach a more reproducible subtyping. Aim: To identify the relation between clinicopathological features as patient age, sex, site of tumor, clinical presentation and tumor stage and the germinal center differentiation in DLBCL (germinal center B-cell (GCB) or activated B-cell (ABC)) and the double/triple genetic hits status.Material and Methods: The material of this study comprised 52 formalin-fixed paraffin- embedded blocks representative of diffuse large B cell lymphoma cases retrieved from the archival material available at the Pathology Department, Faculty of Medicine, Alexandria University. Subclassification of cases into (germinal center / and post-germinal center types) using a panel of immunohistochemical markers including CD10, BCL6 and MUM1 was done and scoring of double/triple hit expression using a panel of immunohistochemical markers including c-MYC, BCL6 and BCL2 was also done and correlation with their subtypes and clinical data was performed.Results: there was significant association between germinal center differentiation and tumor stage (MCp= 0.018).Conclusion: Germinal center differentiation status is a valid method to evaluate the prognosis of DLBCL.
On the Morphology of Orthochirus stockwelli (Lourenço & Vachon, 1995) with First Description of a Female (Scorpiones: Buthidae)
Authors: YAĞMUR Ersen Aydın , AKBARİ Abolfazl , MORADİ Mohammad , JAFARİ Najmeh
Published: May 2023

Orthochirus stockwelli (Lourenço & Vachon, 1995) was originally described based on male holotype specimen from Bandar-Abbas (Hormozgan) under the genus Paraorthochirus. The morphology of this species is redescribed here based on the specimens collected from Bandar-Abbas on the basis of both sexes. The original description includes a female, but very little information was given on its morphology and does not include illustration belonging to the female. Therefore, the female is described for the first time in this study.
Role of Political Talk Shows in Creating Political Awareness among Youth: Case of Southern Punjab, Pakistan
Authors: Ashraf Muhammad Uzair , Ashraf Muhammad Umair , Imran Muhammad
Published: May 2023

Political talk shows to drive the political socialization of youth, inculcating different political trends. This research aimed to examine the role of political talk shows in creating political awareness among the students at public sector universities of southern Punjab. For this study, the researcher selected the students of all the departments of selected public universities; the researcher collected the data through a self-constructed questionnaire from 411 students of BS (Hons), Masters, and M.Phil. By using a simple random sampling technique from selected universities. The findings of this study revealed that political talk shows are created political hype, dissatisfaction, and controversies among the youth of the public sector universities of southern Punjab. The study concluded that television, radio, the internet, and newspaper are the numerous varieties of media through which the young generation gets information and knowledge about all current issues, especially politics.
GAMBARAN FAKTOR PENGETAHUAN PASIEN DALAM PELAYANAN BPJS
Authors: Tullah Adilla , Anggraini Yuliza , Wibowo Hendry
Published: May 2023

Latar Belakang: Pengetahuan merupakan sebuah hasil tahu yang diperoleh setelah melakukan interaksi terhadap suatu objek. Faktor yang berkaitan dengan pengetahuan yaitu umur, tingkat pendidikan, pekerjaan dan sumber informasi. Adanya pasien yang belum memahami bagaimana prosedur dalam pelayanan  BPJS. Tujuan: untuk mengetahui bagaimana distribusi frekuensi faktor yang berkaitan dengan pengetahuan pasien dalam pelayanan BPJS. Metodologi: Penelitian ini dilakukan di Rumah Sakit Madina Bukittinggi dengan menggunakan metode Penelitian deskriptif pendekatan kuantitatif, dengan jumlah sampel sebanyak 76 orang dengan menggunakan teknik accidental sampling. Hasil: penelitian menunjukan bahwa lebih dari sebahagian responden dengan pengetahuan rendah yaitu sebesar (51,3%) dengan umur 21-30 dan 41-50 tahun (25%) dengan tingkat pendidikan tinggi (55,3%) serta responden dengan kategori tidak bekerja (36,8%) dan media cetak merupakan kategori sumber informasi yang paling banyak diperoleh oleh responden sebesar (46,1%). Diskusi: Dari penelitian ini adalah masih rendahnya pengetahuan pasien dalam pelayanan BPJS, saran diharapkan kepada pihak rumah sakit untuk memberikan informasi kepada anggota BPJS dengan lebih maksimal, baik secara langsung, media cetak maupun media elektronik.
GAMBARAN FUNGSI MANAJEMEN KEPALA RUANGAN DI RUANG RAWAT INAP
Authors: Suci Vauzyatari Tilawa , Susanti Elsi , Azwita Sylvi Nezi
Published: May 2023

Belakang: Manajemen berfungsi untuk memberikan arahan, koordinasi, dan pengendalian yang baik berdasarkan rencana yang sebelumnya telah ditetapkan, fungsi manajemen secara umum ada empat yaitu fungsi perencanaan, fungsi pengorganisasian, fungsi pengawasan, dan fungsi pengarahan. Empat fungsiini sangat dibutuhkan untuk menetukan apakah fungsi manajemen kepala ruangan terlaksakan atau belum. Tujuan: Untuk mengetahui gambaran fungsi manajemen kepala ruang di ruang awat inap RSUD Prof. Dr. MA. Hanfiah SM Batusangkar. Metodologi: Jenis penelitian ini merupakan penelitian kuantitatif dengan teknik pengambilan sampel random sempling.Populasi dalam penelitian ini 147 perawat rawat inap dan sampel 45 responden. Hasil: fungsi manajemen kepala ruangan, fungsi perencanaan diperoleh gambaran bahwa dari 45 responden 24 orang (53,3%) menyatakan kurang baik dan 21 orang (46,7%) menyatakan baik, fungsi pengorganisasian kepala ruang diperoleh gambaran bahwa 13 orang (28,9%) menyatakan kurang baik dan 32 orang (71,1%) menyatakan baik, fungsi pengarahan kepala ruangan diperoleh gambaran bahwa 21 orang (46,7%) menyatakan kurang baik dan 24 orang (53,3%) menyatakan baik, fungsi pengawasan kepala ruangan diperoleh gambaran bahwa 32 orang (71,1%) menyatakan kurang baik dan 13 orang (28,9%) menyatakan baik. Diskusi: bahwa fungsi manajemen kepala ruangan di ruang rawat inap masih belum berjalan dengan baik seperti fungsi perencanaan dan pengawasan, untuk fungsi pengorganisasian dan fungsi pengarahan sudah berjalan dengan baik.Saran untuk kepala ruangan agar meningkatkan fungsi manajemen perencanaan dan pengawasan serta mempertahankan fungsi pengorganisasian dan fungsi pengarahan supaya tujuan organisasai nya dapat tercapai.
GAMBARAN KINERJA KEUANGAN PADA RUMAH SAKIT TAHUN 2019-2021
Authors: Agustin Suci , Susanti Elsi , Erpidawati Erpidawati
Published: May 2023

Latar Belakang: Gambaran posisi keuangan dalam satu periode yang biasanya dapat diukur dengan indikator kecukupan modal, likuiditas serta profitabilitas perusahaan merupakan pengertian laporan keuangan. Ditemukan bahwa RSUD Dr. Achmad Mochtar Bukittinggi merupakan rumah sakit rujukan Covid-19 yang berarti akan ada peningkatan atau penurunan dalam kinerja keuangannya. Tujuan: Untuk mengetahui bagaimana kinerja keuangan pada Rumah Sakit Umum Daerah Dr. Achmad Mochtar Bukittinggi pada tahun 2019-2021. Metodologi: Penelitian ini dilakukan pada bulan Juni 2022 menggunakan metode kuantitatif pendekatan deskriptif dengan teknik telaah dokumen. Hasil: yakni rasio likuiditas mengalami peningkatan tiap tahunnya, hasil rasio solvabilitas mengalami penurunan persentase dan hasil rasio rentabilitas mengalami kenaikan akan tetapi rumah sakit mengalami kerugian karena jumlah beban lebih besar daripada pendapatan. Diskusi: Hasil rasio keuangan RSUD Dr. Achmad Mochtar Bukittinggi dapat dikatakan memuaskan, tetapi RSUD Dr. Achmad Mochtar Bukittinggi diharapkan dapat meminimalisirkan beban-beban agar tidak terjadi lagi kerugian atau jumlah beban yang tinggi dibanding jumlah pendapatan. Dan diharapkan RSUD Dr. Achmad Mochtar Bukittinggi dapat memanfaatkan laba, aset dan modalnya sehingga RSUD Dr. Achmad Mochtar Bukittinggi dalam kondisi laba.
ANALISIS TEKANAN DARAH DAN DIAGNOSIS NADI BERDASARKAN DIFERENSIASI SINDROM PADA PENDERITA HIPERTENSI
Authors: Harditya Kadek Buja , Darmawati I Dewa Ayu Agra , Devi Ni Luh Putu Lusiana
Published: May 2023

Pendahuluan: Hipertensi merupakan salah satu penyakit kardiovaskular terjadi sebagai respon peningkatan peningkatan tekanan perifer. Peningkatan tekanan darah dapat menimbulkan pola dan gejala yang menjadi penentu dalam menegakan diagnosis diferensiasi sindrom pada penderita hipertensi. Tujuan penelitian ini untuk menganalisa tekanan darah dan diagnosis nadi berdasarkan diferensiasi sindrom pada penderita hipertensi esensial. Metodologi: Penelitian ini merupakan penelitian deskriptif dengan pendekatan one shot case study, sampel penelitian sejumlah 60 responden diambil pada populasi penderita hipertensi dengan teknik purposive sampling. Hasil: Mayoritas responden memiliki hipertensi derajat I (61,7%), diagnosa diferensiasi sindrom menunjukkan liver fire flaring upward (40,0%) dan diagnose nadi wiry pulse (50,0%). Ada korelasi yang bermakna dengan antara tekanan darah terhadap diagnosa diferensiasi sindrom (tekanan sistolik r=0,402, p=0,001
TRANSPORTATION OPTIMIZATION IN THE DISTRIBUTION OF GASLINK CNG C-CYL PRODUCTS USING ANYLOGISTIX CASE STUDY: PT GAGAS ENERGI INDONESIA
Authors: Kurniawan Adji Candra , Mustafa Figa Wafi Mustafa , Redi Anak Agung Ngurah Perwira
Published: May 2023

PT Gagas Energi Indonesia is a gas subholding company, including the distribution of CNG in the form of cylinders (C-cyl). C-cyl one of the CNG development projects is packaged in a pressurized cylinder of 200-250 pcs and the volume of CNG ranges from 20 - 25 m3 with 16 - 20 kg of LPG. The problem of this research is that the route determination by the company is still done manually so that it has risks in making decisions, assumptions, causing long distances per day and causing the use of a large fleet to be able to cover all customers per day. In solving this problem, the AnyLogistix software transportation optimization model features are used which are solved with the capacited TO experiment to determine distribution routes with the characteristics of the CVRP problem. The data used are 20 location points for potential customers who have the highest demand in the industrial sector, the products used as research objects are CNG C-cyl gaslink and 125 PS Head Truck capacity. The results of the route in the AnyLogistix software for the delivery movement path January 1 2022 – January 5 2022 obtained the total route, the total distance is the same for each day with the first route starting from Pertamina Jaya Hospital, Grand Paragon Mall, PT SINAR HARAPAN PLASTIK, PT DELIDENT, Blok M Plaza, Mercure Jakarta Gatot Subroto, Karimata Taman Mini, Bhayangkara Hospital TK.I R. Said Sukanto, ABUBA Steak – Matraman with a total distance of 106.80 KM, the second route to Richesee Kalimalang, Pondok Kelapa Town Square with a total distance of 14.94 KM and the third route to PT. PIONIRBETON INDUSTRY, Dr. Mintohardjo Naval Hospital, Plataran Menteng, Mercure Jakarta Cikini, Best Western Plus Kemayoran Hotel, Whiz Prime Hotel Kelapa Gading, SANTIKA KELAPA GADING, Jakarta Harbor Hospital, Boutique Café with a total distance of 53.85 KM.
Sporadic Use of Antibiotics in Older Adults and the Risk of Dementia: A Nested Case–Control Study Based on German Health Claims Data
Authors: Rakuša Elena , Fink Anne , Tamgüney Gültekin , Heneka Michael T. , Doblhammer Gabriele
Published: May 2023

Background:

Antibiotics for systemic use may increase the risk of neurodegeneration, yet antibiotic therapy may be able to halt or mitigate an episode of neurodegenerative decline.

Objective:

To investigate the association of sporadic use of antibiotics and subsequent dementia risk (including Alzheimer’s disease).

Methods:

We used data from the largest public health insurance fund in Germany, the Allgemeine Ortskrankenkasse (AOK). Each of the 35,072 dementia cases aged 60 years and older with a new dementia diagnosis during the observation period from 2006 to 2018 was matched with two control-patients by age, sex, and time since 2006. We ran conditional logistic regression models for dementia risk in terms of odds ratios (OR) as a function of antibiotic use for the entire antibiotic group and for each antibiotic subgroup. We controlled for comorbidities, need for long-term care, hospitalizations, and nursing home placement.

Results:

Antibiotic use was positively associated with dementia (OR = 1.18, 95% confidence interval (95% CI):1.14–1.22), which became negative after adjustment for comorbidities, at least one diagnosis of bacterial infection or disease, and covariates (OR = 0.93, 95% CI:0.90–0.96). Subgroups of antibiotics were also negatively associated with dementia after controlling for covariates: tetracyclines (OR = 0.94, 95% CI:0.90–0.98), beta-lactam antibacterials, penicillins (OR = 0.93, 95% CI:0.90–0.97), other beta-lactam antibacterials (OR = 0.92, 95% CI:0.88–0.95), macrolides, lincosamides, and streptogramins (OR = 0.88, 95% CI:0.85–0.92), and quinolone antibacterials (OR = 0.96, 95% CI:0.92–0.99).

Conclusion:

Our results suggest that there was a decreased likelihood of dementia for preceding antibiotic use. The benefits of antibiotics in reducing inflammation and thus the risk of dementia need to be carefully weighed against the increase in antibiotic resistance.
Extracellular Tau Oligomers Damage the Axon Initial Segment
Authors: Best Merci N. , Lim Yunu , Ferenc Nina N. , Kim Nayoung , Min Lia , Wang Dora Bigler , Sharifi Kamyar , Wasserman Anna E. , McTavish Sloane A. , Siller Karsten H. , Jones Marieke K. , Jenkins Paul M. , Mandell James W. , Bloom George S.
Published: May 2023

Background:

In Alzheimer’s disease (AD) brain, neuronal polarity and synaptic connectivity are compromised. A key structure for regulating polarity and functions of neurons is the axon initial segment (AIS), which segregates somatodendritic from axonal proteins and initiates action potentials. Toxic tau species, including extracellular oligomers (xcTauOs), spread tau pathology from neuron to neuron by a prion-like process, but few other cell biological effects of xcTauOs have been described.

Objective:

Test the hypothesis that AIS structure is sensitive to xcTauOs.

Methods:

Cultured wild type (WT) and tau knockout (KO) mouse cortical neurons were exposed to xcTauOs, and quantitative western blotting and immunofluorescence microscopy with anti-TRIM46 monitored effects on the AIS. The same methods were used to compare TRIM46 and two other resident AIS proteins in human hippocampal tissue obtained from AD and age-matched non-AD donors.

Results:

Without affecting total TRIM46 levels, xcTauOs reduce the concentration of TRIM46 within the AIS and cause AIS shortening in cultured WT, but not TKO neurons. Lentiviral-driven tau expression in tau KO neurons rescues AIS length sensitivity to xcTauOs. In human AD hippocampus, the overall protein levels of multiple resident AIS proteins are unchanged compared to non-AD brain, but TRIM46 concentration within the AIS and AIS length are reduced in neurons containing neurofibrillary tangles.

Conclusion:

xcTauOs cause partial AIS damage in cultured neurons by a mechanism dependent on intracellular tau, thereby raising the possibility that the observed AIS reduction in AD neurons in vivo is caused by xcTauOs working in concert with endogenous neuronal tau.
Advances in the Study of APOE and Innate Immunity in Alzheimer’s Disease
Authors: Li Yujiao , Chang Jun , Chen Xi , Liu Jianwei , Zhao Lan
Published: May 2023

Alzheimer’s disease (AD) is a progressive degenerative disease of the nervous system (CNS) with an insidious onset. Clinically, it is characterized by a full range of dementia manifestations including memory impairment, aphasia, loss of speech, loss of use, loss of recognition, impairment of visuospatial skills, and impairment of executive function, as well as changes in personality and behavior. The exact cause of AD has not yet been identified. Nevertheless, modern research indicates that genetic factors contribute to 70% of human’s risk of AD. Apolipoprotein ( APOE) accounts for up to 90% of the genetic predisposition. APOE is a crucial gene that cannot be overstated. In addition, innate immunity plays a significant role in the etiology and treatment of AD. Understanding the different subtypes of APOE and their interconnections is of paramount importance. APOE and innate immunity, along with their relationship to AD, are primary research motivators for in-depth research and clinical trials. The exploration of novel technologies has led to an increasing trend in the study of AD at the cellular and molecular levels and continues to make more breakthroughs and progress. As of today, there is no effective treatment available for AD around the world. This paper aims to summarize and analyze the role of APOE and innate immunity, as well as development trends in recent years. It is anticipated that APOE and innate immunity will provide a breakthrough for humans to hinder AD progression in the near future.
A Mixed-Method Study Exploring Patient-Experienced and Caregiver-Reported Benefits and Side Effects of Corticosteroid Use in Duchenne Muscular Dystrophy
Authors: Fischer Ryan , Porter Katherine , Donovan Joanne M. , Scavina Mena T. , Armstrong Niki , Denger Brian , Hasham Shabir , Peay Holly
Published: May 2023

Background:

Corticosteroids are recommended to all people with Duchenne as standard of care; patient experience data is important to guide corticosteroid decision making and as a comparator for new treatment options.

Objective:

This study assesses patient and caregiver-reported benefits and side effects from corticosteroids to treat Duchenne muscular dystrophy, their importance, and satisfaction.

Methods:

Using one-on-one interviews ( n = 28) and an online survey ( n = 236), parents and adults with Duchenne reported corticosteroid benefits and side effects rated as both experienced and important.

Results:

Benefits to breathing, heart function, arm strength, slowing progression of weakness, and getting around were rated as particularly important, regardless of ambulatory status. Important side effects included increased fracture risk, unwanted weight gain, and diabetes/prediabetes. Parents rated behavior issues and adults rated delayed puberty as having high importance. Being ambulatory was independently associated with reporting more net benefit ( p = 0.02). For side effects, parent scores were significantly higher than adult score ( p = 0.02). Corticosteroid type was not significant. Participants were, overall, satisfied with corticosteroids (means ranging from 6.2 to 7.7 on a scale of 0–10), with no significant differences based on corticosteroid type.

Conclusions:

Overall, most participants were satisfied with the use of corticosteroids. While a range of side effects were rated as important and relatively common, individuals using corticosteroids and their caregivers indicate that benefits outweigh the side effects. Qualitative data indicate that high acceptability is influenced by lack of treatment alternatives. Patient experience data on use of corticosteroids in Duchenne may be relevant to drug development, regulatory assessment of new treatments, and to families making decisions about corticosteroid use.
Brain MRI Abnormalities, Epilepsy and Intellectual Disability in LAMA2 Related Dystrophy – a Genotype/Phenotype Correlation
Authors: Camelo Clara Gontijo , Artilheiro Mariana Cunha , Martins Moreno Cristiane Araújo , Ferraciolli Suely Fazio , Serafim Silva André Macedo , Fernandes Tatiana Ribeiro , Lucato Leandro Tavares , Rocha Antônio José , Reed Umbertina Conti , Zanoteli Edmar
Published: May 2023

Background:

LAMA2-related muscular dystrophy is a disorder that causes muscle weakness and varies in severity, from a severe, congenital type to a milder, late-onset form. However, the disease does not only affect the muscles, but has systemic involvement and can lead to alterations such as brain malformation, epilepsy and intellectual disability.

Objective:

Describe the frequency of cortical malformations, epilepsy and intellectual disability in LAMA2-RD in a Brazilian cohort and correlate the neurological findings to genetic and motor function.

Methods:

This is an observational study of 52 LAMA2-RD patients, who were divided into motor function subgroups and compared based on brain MRI findings, epilepsy, intellectual disability, and type of variants and variant domains.

Results:

44 patients (84.6%) were only able to sit, and 8 patients (15.4%) were able to walk. 10 patients (19.2%) presented with cortical malformations (polymicrogyria, lissencephaly-pachygyria, and cobblestone),10 patients (19.2%) presented with epilepsy, and 8 (15.4%) had intellectual disability. CNS manifestations correlated with a more severe motor phenotype and none of the patients able to walk presented with cortical malformation or epilepsy. There was a relation between gene variants affecting the laminin- α2 LG-domain and the presence of brain malformation ( P = 0.016). There was also a relation between the presence of null variants and central nervous system involvement. A new brazilian possible founder variant was found in 11 patients (21,15%) (c.1255del; p. Ile419Leufs*4).

Conclusion:

Cortical malformations, epilepsy and intellectual disability are more frequent among LAMA2-RD patients than previously reported and correlate with motor function severity and the presence of variants affecting the laminin- α2 LG domain. This brings more insight fore phenotype-genotype correlations, shows the importance of reviewing the brain MRI of patients with LAMA2-RD and allows greater attention to the risk of brain malformation, epilepsy, and intellectual disability in those patients with variants that affect the LG domain.
Closed-Loop Adaptive Deep Brain Stimulation in Parkinson’s Disease: Procedures to Achieve It and Future Perspectives
Authors: Wang Shu , Zhu Guanyu , Shi Lin , Zhang Chunkui , Wu Bing , Yang Anchao , Meng Fangang , Jiang Yin , Zhang Jianguo
Published: May 2023

Parkinson’s disease (PD) is a neurodegenerative disease with a heavy burden on patients, families, and society. Deep brain stimulation (DBS) can improve the symptoms of PD patients for whom medication is insufficient. However, current open-loop uninterrupted conventional DBS (cDBS) has inherent limitations, such as adverse effects, rapid battery consumption, and a need for frequent parameter adjustment. To overcome these shortcomings, adaptive DBS (aDBS) was proposed to provide responsive optimized stimulation for PD. This topic has attracted scientific interest, and a growing body of preclinical and clinical evidence has shown its benefits. However, both achievements and challenges have emerged in this novel field. To date, only limited reviews comprehensively analyzed the full framework and procedures for aDBS implementation. Herein, we review current preclinical and clinical data on aDBS for PD to discuss the full procedures for its achievement and to provide future perspectives on this treatment.
Machine Learning Based Risk Prediction for Major Adverse Cardiovascular Events for ELGA-Authorized Clinics1
Authors: Polat Erdeniz Seda , Kramer Diether , Schrempf Michael , Rainer Peter P. , Felfernig Alexander , Tran Trang N.T. , Burgstaller Tamim , Lubos Sebastian
Published: May 2023

Background: Artificial Intelligence (AI) has had an important impact on many industries as well as the field of medical diagnostics. In healthcare, AI techniques such as case-based reasoning and data driven machine learning (ML) algorithms have been used to support decision-making processes for complex tasks. This is used to assist medical professionals in making clinical decisions. A way of supporting clinicians is providing predicted prognoses of various ML models. Objectives: Training an ML model based on the data of a hospital and using it on another hospital have some challenges. Methods: In this research, we applied data analysis to discover required data filters on a hospital’s EHR data for training a model for another hospital. Results: We applied experiments on real-world data of ELGA (Austrian health record system) and KAGes (a public healthcare provider of 20+ hospitals in Austria). In this scenario, we train the prediction model for ELGA- authorized health service providers using the KAGes data since we do not have access to the complete ELGA data. Conclusion: Finally, we observed that filtering the data with both feature and value selection increases the classification performance of the prediction model, which is trained for another system.
A Novel Algorithmic Approach to the Analysis of Multi-Electrode Array Signals of hiPSC-Derived Cardiomyocytes
Authors: Voutsinas Christoph , Frommelt Laura Sophie , Volani Chiara , Rossini Alessandra , Oberzaucher Johannes
Published: May 2023

In order to perform in vitro cardiotoxicity screening of pharmacological substances, multi-electrode array systems are increasingly used to measure the extracellular field potentials of cell layers of human induced pluripotent stem cell cardiomyocytes. The analysis of the field potentials is usually performed using complex analysis software provided by the hardware manufacturers. In the case of the Cardiac Analysis Tool software from Axion Biosystems, inconsistencies were found in the results, which can significantly influence the cardiotoxicity screening results. In order to obtain more reliable results, a new algorithm was developed and implemented in an easy-to-use software tool, the INCardio Data Analysis Tool, which, due to its high degree of automation, can also be used by inexperienced users. The validation reveals differences in the results of the two tools both in depolarization spike amplitudes and in the time course of the field potential durations. The manual analysis of all signals affected by deviations shows that the results of the newly developed Data Analysis Tool are correct in all cases and can therefore be classified as more accurate and reliable than the reference analysis software.
Holistic Digitalization of the Nursing Internship Process in the Federal State of Salzburg with Strong User Involvement
Authors: Roth Melanie , Michel Leonie , Drack Christiane , Hauser Tanja , Maurer Bernhard , Bilke Andreas
Published: May 2023

Background: In the federal state of Salzburg, the harmonization of nursing internship took place from 2014–2019 as a joint effort of educational and internship providers. Currently the handling of these mostly paper pencil-based documents involves a manual process through different institutions and people. Objectives: The project provides the basis for the implementation of the “internship platform”. In the future, this is to be the digital, state-of-the-art one-stop shop for the state-wide practical nursing training (in the form of immanent internships) at all training levels. Methods: The process is influenced by modern requirements engineering techniques: As-is analysis of the internship process and related documents, contextual inquires in different internship providers, iterative focus group discussions focusing first on user stories, then on interface designs, and final user testing. Results: Standardized workflow and authorization concept for all user groups, mandatory requirements for the software system, tested user interfaces, tender documents for EU-wide tender procedure. Conclusion: Positive feedback from all involved user groups on project goal, results and involvement in the process.
Data Exchange Between Ambulance and Trauma Center: Interview Study About the Needs of Emergency Trauma Room Staff
Authors: Schatz Anna , Osterhoff Georg , Joeres Fabian , Neumuth Thomas , Rockstroh Max
Published: May 2023

Background: In emergency trauma room, adequate preparation of all resources prior to the patient’s arrival is essential to ensure optimal continuation of the treatment. Therefore, a good transfer of information between pre-hospital and hospital is very important, for example through networking technologies. Objectives: The aim is to identify what pre-hospital information is needed to ensure that all necessary resources in the ETR are optimally prepared for the incoming trauma patient. Methods: A qualitative, semi structured interview was conducted with physicians of ETR team at four trauma centers. Results: Physicians mentioned similar requests for pre-hospital information. The workflow in ETRs differed in alerting of team members and transferring of pre-notification information. Conclusion: Clinical needs for pre-hospital information for future development of support systems in the networking of accident site and hospital could be identified.
ELGA Terminology Server for Clinical Decision Support: A Case-Study Using an Existing Knowledge Base, CDS Hooks and FHIR
Authors: Lanyi Lujza , Rinner Christoph
Published: May 2023

Background: There are many medical knowledge bases with potential for supporting medical professionals in their decision-making during routine care, yet usage of these sources remains low. Standardized linking of Clinical Decision Support (CDS) applications and existing medical knowledge bases is not a common practice. Objectives: Using existing eHealth standards to increase the utilization of knowledge bases and implement a prototype. Methods: Linking an existing online knowledge base via a FHIR CodeSystem supplement to the Austrian national EHR (ELGA) terminology server and accessing these data using CDS Hooks and FHIR. Results: We tested the approach by incorporating photosensitivity data of medications into a local copy of the Austrian terminology server. These data are directly used by a CDS Hooks compliant CDS service. Conclusion: The Austrian Terminology Server could be an important interface to access existing knowledge bases from within EHR systems. FHIR and CDS Hooks could lead the way for a simple and open integration of CDS services into EHR systems.
Multi-Perspective Process Mining Interfaces for HL7 AuditEvent Repositories: XES and OCEL
Authors: Pointner Andreas , Krauss Oliver , Erhard Andreas , Schuler Andreas , Helm Emmanuel
Published: May 2023

Background: Medical information systems frequently use event logging, but these logs are not suitable for process mining as they are not logged in a standardized format. Objectives: Our goal is to enrich medical event logs for use in process mining. Method: We present an approach to convert events from standards- based repositories into the XES and OCEL formats commonly used in process mining. Results: We tested this approach using simulated data from the Austrian breast cancer screening program. Conclusion: We aim to apply it to analyze care guidelines and improve hospital processes in the future.
Frail People in LABLand: Development of an Easy-to-Use Machine Learning Model to Identify Frail People in Hospitals Based on Laboratory Data
Authors: Gutheil Julian , Stampfer Philip , Kramer Diether , Wechselberger Manuel , Veeranki Sai Pavan Kumar , Schrempf Michael , Mrak Peter , Aubel Martina , Feichtner Franz
Published: May 2023

Background: Frail individuals are very vulnerable to stressors, which often lead to adverse outcomes. To ensure an adequate therapy, a holistic diagnostic approach is needed which is provided in geriatric wards. It is important to identify frail individuals outside the geriatric ward as well to ensure that they also benefit from the holistic approach. Objectives: The goal of this study was to develop a machine learning model to identify frail individuals in hospitals. The model should be applicable without additional effort, quickly and in many different places in the healthcare system. Methods: We used Gradient Boosting Decision Trees (GBDT) to predict a frailty target derived from a gold standard assessment. The used features were laboratory values, age and sex. We also identified the most important features. Results: The best GBDT achieved an AUROC of 0.696. The most important laboratory values are urea, creatinine, granulocytes, chloride and calcium. Conclusion: The model performance is acceptable, but insufficient for clinical use. Additional laboratory values or the laboratory history could improve the performance.
Construct and Concurrent Validity of two Scales Designed to Measure Reinforcement Sensitivity
Authors: Pulido Marco , Aristegui Tania , Gutiérrez Andrea , Mariñelarena Victoria , Parra Fernanda , Pascual Mariana
Published: May 2023

Two studies assessed construct and concurrent validity of two scales designed to measure reinforcement sensitivity. Two non-probabilistic samples of college students from Mexico City were used. The first study showed that while the BIS/BAS scales may possess construct validity, they lack in concurrent one; conversely, the SPSRQ did not show construct validity but showed evidence of concurrent one. Convergent validity was assessed using self-report questionnaires. The second study showed that the BAS scales may predict response distribution, in the IOWA-GT, in a way that is consistent with Reinforcement Sensitivity Theory (RST); this was not the case with the BIS scale. The results suggest that either the scales developed to assess RST, or the theory itself (or both) require a thorough revision.
Análisis de la Escala de Bienestar Psicológico para Adultos usando el modelo de respuesta graduada
Authors: Valencia Pablo D. , Alvarez Naomi
Published: May 2023

La Escala de Bienestar Psicológico para Adultos (BIEPS-A) fue propuesta como una medida multidimensional de bienestar psicológico. El presente estudio planteó la hipótesis de que la escala BIEPS-A es una medida esencialmente unidimensional y, por lo tanto, puede analizarse con modelos unidimensionales de la teoría de respuesta a los ítems. Examinamos datos de 1016 estudiantes universitarios peruanos (Medad = 20.56, 50 % mujeres) y encontramos apoyo para nuestra hipótesis de unidimensionalidad. Por lo tanto, el modelo de respuesta graduada se aplicó a los ítems de la escala BIEPS-A. Todos ellos funcionaron de manera aceptable solo a niveles bajos del constructo, mientras que se desempeñaron mal a niveles promedio y más altos de bienestar psicológico. Se discuten las implicaciones de estos hallazgos y también se ofrecen sugerencias para futuros desarrollos.
Las relaciones entre Habilidades narrativas y Funciones Ejecutivas en la infancia. Una revisión sistemática.
Authors: Moreira Karen Adriana , Tomás Llerena Clementina , Vercellino Dessent Valentina , Rivera Ibaceta Johanna , Dávila Sasía Pamela , Quiles Sthefani , Tresso González Florencia , Rosemberg Celia
Published: May 2023

Las Funciones Ejecutivas y las Habilidades Narrativas son predictores relevantes del desempeño académico, pero sabemos muy poco sobre su relación. Este estudio se propuso revisar sistemáticamente investigaciones que abordan la relación entre Funciones Ejecutivas y Habilidades Narrativas en niños de desarrollo típico. Siguiendo la metodología PRISMA, se realizaron búsquedas en las bases SCOPUS, WoS y EBSCO, incluyendo artículos académicos, en español, inglés, portugués y francés, considerando tres criterios de inclusión: evaluación directa de los constructos Habilidades Narrativas y Funciones Ejecutivas y su relación, inclusión de información sobre población con desarrollo típico y foco en la franja etaria de 2 a 10 años. La revisión incluyó 38 reportes que mostraron que la asociación entre ambos constructos es un fenómeno robusto. Se observa un predominio de estudios transeccionales. Se requieren estudios longitudinales, con muestras más diversas, y en especial para el español, que permitan establecer la direccionalidad de la relación.
Funcionamiento familiar, regulación emocional y estrés durante el confinamiento por COVID-19 en adolescentes mexicanos
Authors: Orozco Vargas Arturo Enrique
Published: May 2023

El confinamiento por la pandemia de COVID-19 ha traído consigo múltiples cambios en la vida de los adolescentes. En este contexto, el objetivo de la presente investigación fue examinar el rol de la regulación emocional, incluyendo cinco estrategias adaptativas (conciencia plena, reevaluación, aceptación, solución de problemas y distracción) como mediadores paralelos de los efectos del funcionamiento familiar en el estrés de los adolescentes mexicanos. Un total de 788 adolescentes participaron en este estudio. Los resultados confirmaron el modelo de mediación paralela mostrando que el funcionamiento familiar puede reducir el estrés que experimentan los adolescentes al incidir de manera positiva en las estrategias de conciencia plena, reevaluación, la solución de problemas y la distracción. En conclusión, fue posible confirmar por primera vez los efectos que tiene el funcionamiento familiar en el estrés de los adolescentes mexicanos vía las estrategias de regulación emocional.
Parenting stress and coping strategies in mothers with children with Attention Deficit Hyperactivity Disorder
Authors: Gonzalez Marina Natalia , Depaula Pablo Domingo
Published: May 2023

The aim of this research was to study the relationship between parenting stress and coping strategies of mothers of children with Attention Deficit Hyperactivity Disorder (ADHD). The sample consisted of 143 mothers with a child who had been diagnosed with ADHD. The mothers completed a sociodemographic questionnaire, the Coping Strategies Questionnaire (CAE) and the Parenting Stress Index Short Form (PSI-SF). The results showed that mothers experienced high levels of stress and they tended to use coping strategies focused on problem solving. Meaningful differences were found between parenting stress and coping strategies according to sociodemographic characteristics. Negative correlations between parenting stress and coping strategies showed that coping strategies focused on problem solving were associated with lower levels of stress. Besides, positive correlations between parenting stress and coping strategies showed that higher levels of emotional coping strategies were associated with higher levels of parenting stress.
EDITORIAL
Authors: Lage Allene
Published: May 2023

Editorial
UMA FAMÍLIA QUE NÃO EDUCA E NEM PROTEGE? SCRIPTS DE GÊNERO E VIOLÊNCIA/ABUSO SEXUAL CONTRA MENINOS
Authors: Rosa Cristiano Eduardo da , Felipe Jane
Published: May 2023

Neste artigo problematizamos o papel da família frente à violência/abuso sexual contra meninos a partir de dados de uma pesquisa online que realizamos com 170 homens, em que 74 afirmaram terem sido vítimas dessa ocorrência na infância. O referencial teórico utilizado se baseia nos Estudos de Gênero e nos Estudos Culturais, alinhados à perspectiva pós-estruturalista de análise. Os resultados apontaram que a faixa etária mais vulnerável se deu entre 5 e 8 anos, sendo que a maioria das vítimas foi abusada por adolescentes e outros homens. Além disso, os depoentes informaram que a maioria das famílias não lhes forneceu qualquer tipo de educação para sexualidade na infância, em especial no que se refere à prevenção de violências/abusos sexuais, colocando-os assim em situação de vulnerabilidade. Deste modo, a educação ministrada aos meninos reforça determinados scripts de gênero que preconizam uma criação mais livre, sendo a família uma das principais instituições reprodutoras das expectativas sociais e culturais sobre as masculinidades e as feminilidades desde a infância.