bluuebunny/crossref_metadata_2025_split huggingface dataset:
DNAJC3 deficiency induces β-cell mitochondrial apoptosis and causes syndromic young-onset diabetes
Authors: Lytrivi Maria , Senée Valérie , Salpea Paraskevi , Fantuzzi Federica , Philippi Anne , Abdulkarim Baroj , Sawatani Toshiaki , Marín-Cañas Sandra , Pachera Nathalie , Degavre Anne , Singh Pratibha , Derbois Céline , Lechner Doris , Ladrière Laurence , Igoillo-Esteve Mariana , Cosentino Cristina , Marselli Lorella , Deleuze Jean-François , Marchetti Piero , Eizirik Décio L , Nicolino Marc , Chaussenot Annabelle , Julier Cécile , Cnop Miriam 
Published: January 2021

Objective
DNAJC3, also known as P58IPK, is an Hsp40 family member that interacts with and inhibits PKR-like ER-localized eIF2α kinase (PERK). Dnajc3 deficiency in mice causes pancreatic β-cell loss and diabetes. Loss-of-function mutations in DNAJC3 cause early-onset diabetes and multisystemic neurodegeneration. The aim of our study was to investigate the genetic cause of early-onset syndromic diabetes in two unrelated patients, and elucidate the mechanisms of β-cell failure in this syndrome.

Methods
Whole exome sequencing was performed and identified variants were confirmed by Sanger sequencing. DNAJC3 was silenced by RNAi in INS-1E cells, primary rat β-cells, human islets, and induced pluripotent stem cell-derived β-cells. β-cell function and apoptosis were assessed, and potential mediators of apoptosis examined.

Results
The two patients presented with juvenile-onset diabetes, short stature, hypothyroidism, neurodegeneration, facial dysmorphism, hypoacusis, microcephaly and skeletal bone deformities. They were heterozygous compound and homozygous for novel loss-of-function mutations in DNAJC3. DNAJC3 silencing did not impair insulin content or secretion. Instead, the knockdown induced rat and human β-cell apoptosis and further sensitized cells to endoplasmic reticulum stress, triggering mitochondrial apoptosis via the pro-apoptototic Bcl-2 proteins BIM and PUMA.

Conclusions
This report confirms previously described features and expands the clinical spectrum of syndromic DNAJC3 diabetes, one of the five monogenic forms of diabetes pertaining to the PERK pathway of the endoplasmic reticulum stress response. DNAJC3 deficiency may lead to β-cell loss through BIM- and PUMA-dependent activation of the mitochondrial pathway of apoptosis.
Laparoscopic sleeve gastrectomy as a primary bariatric procedure: postoperative outcomes
Authors: Mocian Flavius , Coroș Marius 
Published: January 2021

Background and aims. Laparoscopic sleeve gastrectomy is at present the most popular bariatric procedure due to its significant effect on weight loss, resolution of comorbidities and improvement in the quality of life. However, there are not many studies showing its medium and long term efficacy and safety in Eastern Europe. We aim to report the outcomes of laparoscopic sleeve gastrectomy as a primary bariatric procedure from a single surgical department.
Methods. This is a retrospective analysis of obese patients who underwent laparoscopic sleeve gastrectomy between 2009 - 2016 in our department. Outcomes were analyzed in terms of weight loss, comorbidity resolution and quality of life changes.
Results. A number of 70 patients were included in the study, with a mean age of 47.6 ± 9.8 years. Mean initial Body Mass Index was 47.4 ± 6.4 kg/m2. The mean percentage of excess weight loss during follow-up was 78.2% at 12 months, 80.2%, 76.7%, 74.7%, 72.8%, 73.3%, 74.1%, 67.2%, 64.07%, 69.7% at 24, 36, 48, 60, 72, 84, 96, 108 and 120 months, respectively. Weight regain occurred in 61 (87.1%) patients during the postoperative period. The mean weight regained was 8.1 ± 4.8 kg at 24 months postoperatively. Regarding the quality of life, 83% of patients declared an increase in self-esteem. Resolution of diabetes, arterial hypertension, and obstructive sleep apnea syndrome occurred in 80%, 42.5% and 70.1% of patients respectively.
Conclusions. Laparoscopic sleeve gastrectomy is an effective procedure, with good outcomes in the medium and long term, although a tendency for weight regain was noted after 2 years. Resolution of comorbidities is comparable with that reported in the literature, namely an improvement of the quality of life.
Nilai-nilai Kearifan Lokal Masyarakat Pandalungan: Kasus Upacara Taropan di Probolinggo
Authors: Tjahyadi Indra , Wafa Hosnol , Zamroni Moh. 
Published: January 2021

This study focuses on the values of the local wisdom of hybrid Probolinggo community. The material object in this study is Taropan Ceremony. Taropan is a tradition carried out by the people of Probolinggo. The method used in this research is ethnographic method through data collection interviews, observations, and literature studies. The results of this study note that Taropan exclusively happens only for the people of Probolinggo. The values of local wisdom in Taropan include (1) the values of brotherhood and (2) the value of religiosity. Overall, it can be seen that the values in Taropan are the fundamental element of the local wisdom values of Probolinggo, especially Pandalungan community that has a hybrid identity which are a mixture of Javanese and Madura wisdom values.
Fragilidad y úlceras por presión en personas mayores institucionalizadas
Authors: Santamaría Peláez Mirian , González Bernal Jerónimo , González Santos Josefa , Soto Cámara Raúl 
Published: January 2021

Investigación transversal y de tipo descriptivo para estudiar la relación entre la situación de fragilidad de las personas mayores institucionalizadasyla presencia de úlceras por presión yel riesgo desufrirlas;en una muestra de 194 participantes. La presencia de úlceras por presión se recoge a través de un registro ad hoc, el riesgo de padecer úlceras por presión se mide con la escala de Norton y la fragilidad se con la herramienta Short Physical Performance Battery; ambos instrumentos con buenas propiedades psicométricas. Los resultados no muestran relación significativa entre los grupos de fragilidad y la presencia de UPP, aunque resulta destacable la no existencia de ninguna persona con úlceras por presión en los grupos de personas robustas y prefrágiles; así, todas las personas que presentan úlceras por presión se catalogan como frágiles (21,4%) o dependientes (78,6%). Sin embargo, sí que existen diferencias significativas entre los grupos de fragilidad que establece el Short Physical Performance Battery y el riesgo de úlceras por presión entre todos los grupos de fragilidad (,060 mayor que p mayor que ,001) excepto en la relación prefrágil-robusto. Además, aparece una correlación positiva entre el riesgo de úlceras por presión y la situación de fragilidad, de forma que a mayor riesgo de UPP, existe mayor situación de fragilidad y/o dependencia. Los resultados obtenidos permiten la detección de la población con mayor riesgo de úlceras por presión, lo que posibilitaría implementar intervenciones precoces encaminadas a la prevención de las mismas en base a las diferencias encontradas entre los grupos.
INFLUENCE OF WORKING MEMORY AND SPEECH PERCEPTION ABILITY ON HEARING AID USE AND BENEFIT IN OLDER ADULTS
Authors: Dwarakanath Vikas , P Manjula 
Published: January 2021

BackgroundHearing aids are equipped with many features to improve the speech perception abilities in quiet as well as in challenging situations. Despite that, older adults who use and benefit from hearing aids remain less satisfied. The present study focuses on aspects such as working memory, speech perception in noise (SNR-50), hearing aid usage, and its impact on perceived hearing aid benefit in older adults.Material and methodsDigit backward test and speech perception in noise test were administered on 34 older adults having mild to moderately-severe sensorineural hearing loss who were naïve users of hearing aids. The participants were divided into good and poor performers based on SNR-50. Two months later, the same tests were repeated along with administration of International Outcome Inventory - Hearing Aids (IOI-HA).ResultsThere was a significant difference in working memory and speech perception in noise with hearing aid outcome measures. It was also seen that individuals with better working memory and lower SNR-50 scores benefited more from a hearing aid. Cognition plays an important role in determining the amount of benefit derived from hearing aids in older adults.ConclusionsThe present study highlights the importance of measuring working memory and speech perception abilities in older adults with hearing loss before fitting a hearing aid. These measures have a significant role in counselling about the realistic expectations of benefits from a hearing aid.
COMPARING BEHIND-THE-EAR AND SINGLE-UNIT COCHLEAR IMPLANT AUDIO PROCESSORS IN 83 NEWLY IMPLANTED SUBJECTS
Authors: Godey Benoit , Darrouzet Vincent , Ruben Hermann , Mosnier Isabelle , Poncet Christine , Schmerber Sébastien , Truy Eric , Venail Frédéric , Vincent Christophe , Péan Vincent 
Published: January 2021

BackgroundThe RONDO is a single-unit device that merges both the OPUS 2 behind-the-ear audio processor and the coil into a single housing. The study aims to assess the perceived auditory abilities and opinions of newly implanted subjects using the OPUS 2 and/or the RONDO in everyday life.Material and methodsWe studied 83 newly implanted subjects who received the RONDO and OPUS 2 and were free to use whichever processor they preferred or a combination of the two. User satisfaction was evaluated after at least 4 weeks of use (after the first fitting) using the device-specific RONDO questionnaire.ResultsResults showed that 77% of subjects were satisfied with the RONDO in general, and 92% of subjects either preferred to use the RONDO or liked both audio processors equally while wearing eyeglasses. Overall, 91% of subjects would recommend the RONDO to other CI users. RONDO was significantly (p<0.05) preferred at home, for cultural events, or when wearing glasses; OPUS 2 was preferred for sport or while wearing a cap.ConclusionsThe RONDO was associated with a high degree of user satisfaction among newly implanted CI users and offers CI users further options in terms of wearer comfort and cosmetic appearance. Thus, CI users can, if they wish, switch from the OPUS 2 to the RONDO without affecting their hearing ability or speech understanding.
EVALUATION OF WIDEBAND ABSORBANCE TYMPANOMETRY IN ADULTS WITH ABNORMAL POSITIVE AND NEGATIVE MIDDLE EAR PRESSURE
Authors: Karuppannan Arunraj , Barman Animesh 
Published: January 2021

BackgroundMiddle ear pressure plays a vital role in the transmission of sound to the inner ear. However, limited research data exists to understand the effect of abnormal middle ear pressure on wideband absorbance (WBA) tympanometry. The purpose of the study was to evaluate WBA at peak pressure and ambient pressure in adults with abnormal positive and negative middle ear pressure and compare them with normal adult ears having normal middle ear pressure.Material and methodsThree groups of adults – normal middle ear pressure group (56 ears), negative middle ear pressure group (30 ears), and positive middle ear pressure group (15 ears) – in the age range 22 to 50 years were considered. WBA was measured at peak and ambient pressures across the frequencies from 250 to 8000 Hz.ResultsWBA at peak pressure was observed to be higher than at ambient pressure in all the groups, with the difference seen mostly at low and mid-frequencies up to 2000 Hz. The negative middle ear pressure group showed the most considerable difference in mean WBA, seen between 600 Hz and 1000 Hz, followed by the positive middle ear pressure group, with a negligible difference for the normal middle ear pressure group.ConclusionsThe study highlighted the importance of measuring WBA at peak pressure and ambient pressure. The results suggest that the comparison of WBA at peak and ambient pressures, especially from lower to mid-frequencies up to 2000 Hz, would help in differentiating abnormal negative/positive pressure from normal middle ear pressure and also between ears having negative and positive pressure.
COMPARISON OF N1P2 CORTICAL AUDITORY EVOKED POTENTIAL AND NARROW-BAND CHIRP AUDITORY STEADY STATE POTENTIAL IN HEARING THRESHOLD DETECTION IN ADULTS
Authors: Dabbous Abeir , El-Shennawy Amira , Hamdy Mona , Nabieh Shimaa 
Published: January 2021

BackgroundVarious auditory evoked potential techniques have been explored as a means of objectively predicting the behavioral audiogram in groups of subjects who cannot provide reliable or accurate behavioral results. The tone-evoked auditory brainstem response (ABR) cannot differentiate between severe and profound SNHL, whereas the auditory steady state response (ASSR) can provide threshold information in a frequency-specific manner at intensity levels of 120 dBSPL. The cortical auditory evoked potential (N1P2 CAEP) has shown advantages over the ABR and ASSR.ObjectivesTo assess the ability of the N1P2 cortical auditory evoked potential (CAEP) to estimate the hearing threshold level at different frequencies, in normal hearing adults and adults with different degrees of sensorineural hearing loss (SNHL); and to compare it to the auditory steady state response (ASSR).MethodsThis study included 90 subjects (180 ears), grouped into 6 groups according to the degree of hearing obtained by pure tone audiometry (PTA). Hearing threshold was then measured using N1P2 CAEP and ASSR.ResultsN1P2 CAEP and ASSR were highly correlated to PTA at all frequencies. However, N1P2 CAEP predicted behavioral thresholds more accurately than ASSR at all frequencies, especially at 500 and 1000 Hz in the normal hearing group and for all degrees of SNHL. N1P2 CAEP was equally accurate at all frequencies and predicted behavioral thresholds better at more severe degrees of SNHL at 1, 2, and 4 kHz.ConclusionsThe N1P2 CAEP can be reliably used as an objective method for estimating the behavioral hearing threshold, yielding more accurate results than the ASSR, especially at lower frequencies and with more severe degrees of hearing loss. We therefore recommend using the N1P2 CAEP in estimating the behavioral threshold in difficult-to-test adults.
AUDIO-VESTIBULAR FINDINGS IN AN ADULT WITH ARNOLD–CHIARI MALFORMATION
Authors: Prabhu Prashanth , Anish Anu , Vijayan Devika , Shiju Annika , S P Shanthala , Sreenivas Ramadevi 
Published: January 2021

BackgroundArnold–Chiari malformation is defined as a congenital neuroanatomic deformity of the craniocervical junction, which is characterized by herniation of contents from the posterior cranial fossa through the foramen magnum into the cervical spinal canal. There is limited literature on audiological and vestibular evaluation on individuals with Arnold–Chiari malformation. Thus, the present study reports the results of a detailed audio-vestibular evaluation in an adult female diagnosed with Arnold–Chiari malformation.Case reportA detailed audio-vestibular evaluation was carried out in an adult female diagnosed with Arnold–Chiari malformation. Pure tone audiometry, immittance evaluation, otoacoustic emissions, auditory brainstem response (ABR), cervical vestibular evoked myogenic potential (cVEMP), ocular vestibular evoked myogenic potential (oVEMP), and video head impulse test (vHIT) were recorded, and the results were analyzed. The results of the study showed an abnormal prolongation of inter-peak latencies in the ABR, which was seen in both ears. Also, cVEMP and oVEMP was absent in both ears. The results suggest possible compression of the cerebellar tonsils on the cochlear and vestibular nuclei.ConclusionsThe study suggests that individuals with Arnold–Chiari malformation should undergo a detailed audio-vestibular evaluation to understand the pathophysiology of the disorder, which can guide further management.
Chronic periodontitis and ischemic heart disease: morphofunctional relation-ships
Authors: Eremin Andrey V. , Lepilin A. V. , Lipatova T. E. , Kvetnoy I. M. 
Published: January 2021

The relationship between periodontal diseases and cardiovascular pathology is actively being studied. The clinical significance of tissue markers of endothelial dysfunction in acute or chronic periodontitis needs to be clarified.
Materials and methods. The results of the examination of 65 patients with chronic generalized periodontitis (CP), 35 patients with chronic coronary heart disease (CHD), and 35 patients with combined pathology including CHD and CP were presented. Clinical instrumental examination, assessment of the functional state of the endothelium, immunohistochemical, and morphometric studies were performed.
Results. Patients with moderate CP were characterized by functional changes in the endothelium, decreased expression of the vasodilating factor (e-NO-synthase), and endothelial progenitor cells (CD34+cells) in the vascular wall. In patients with CHD without periodontitis, there was also a decrease in the expression and optical density of endothelial NO-synthase and endothelial progenitor cell in the periodontal vessels.
Conclusion. Apparently, changes in the expression of endothelial NO-synthase and endothelial progenitor cells (CD34+cells) in the vascular wall are generalized, and the gum can serve as a promising material for the early assessment of endothelial dysfunction.
COVID-19 and Stock Market Reaction in Indonesia
Authors: Trisnowati Yanuar , Muditomo Arianto 
Published: January 2021

Research aims: COVID-19 Pandemic happens all over the world. Pandemic impact hits almost all elements of life, one of the affected real sectors is finance especially the stock market. This research is aimed to present the reaction of the equity market in Indonesia towards the COVID-19 pandemicDesign/Methodology/Approach: The research method that is used is the study to examine market reaction towards the pandemic and abnormal return around the occurrence by using two methods; mean-adjusted abnormal return and market model.Research findings: From the research conducted over the 10 indicators of the stock market index in Indonesia, it is concluded that 8 industrial sectors that have tenacious reaction toward the COVID-19 pandemic hit in Indonesia, where it is also found that the agriculture sector; basic and chemical industry; miscellaneous, consumer goods; property and real estate; transport and infrastructure; finance; trade, service, and investment, give stronger reactions compared with mining and manufacture.Theoretical contribution/Originality: Researches about the stock market reaction to the non-economy phenomenon have already been carried out, but the research that is specifically done to study sectoral index reaction towards the non-economy occurrences is still wide open to doing for deeper research.Practitioner/Policy implication: This research can be important information for investors to understand the behavior of stock market efficiency in Indonesia in making decisions of investmentResearch limitation/Implication: Non-economy event that becomes the subject of research is the COVID-19 pandemic that appeared and escalated fast all over the world. The researcher conducted the research and presented it as quickly as possible since the time is limited. It is meant to show a systematic and scientific thinking framework in addressing the non-economy events, but still in the context of reliability on the result of research to the same topic about the COVID-19 effect in other countries.
Isolasi Senyawa Metabolit Sekunder Ekstrak Etanol Spons Stylotella sp Asal Kepulauan Selayar
Authors: Damayanti Aspina , Ilyas Asriani , Firnanelty Firnanelty 
Published: January 2021

Isolation of secondary metabolite compound has been conducted from sponge Stylotella sp., Selayar Island. Stylotella sp., one of Demospongiae class sponge, is found spreading in Selayar Island. This study aims to determine secondary metabolite compounds contained in the ethanol extract of Stylotella sp. sponge by extraction, fractionation and purification methods. The purity test was carried out by three eluent systems of TLC, namely chloroform:ethyl acetate (9:1), n-hexane:acetone (9:1), and chloroform:acetone (9:1). Each eluent produced a single spot. FTIR analysis of Stylotella sp. isolate showed that the pure isolates contained alkaloid compounds with the appearance of a typical functional group of alkaloid compounds. Keywords: Alkaloids, sponge Stylotella sp, extraction Telah dilakukan isolasi senyawa metabolit sekunder dari spons Stylotella sp. asal Kepulauan Selayar. Spons Stylotella sp merupakan spons kelas Demospongiae yang ditemukan penyebarannya di Perairan Pulau Selayar. Penelitian ini bertujuan untuk mengetahui golongan senyawa metabolit sekunder yang terdapat pada ekstrak etanol spons Stylotella sp. dengan metode ekstraksi, fraksinasi dan pemurnian. Uji kemurnian dilakukan dengan uji tiga sistem eluen pada KLT yaitu kloroform:etil asetat (9:1), n-heksan:aseton (9:1), dan kloroform:aseton (9:1). Masing-masing eluen menghasilkan noda tunggal. Isolat hasil analisis FTIR menunjukkan bahwa isolat murni mengandung senyawa alkaloid dengan munculnya gugus fungsi khas senyawa golongan alkaloid. Kata kunci: Alkaloid, spons Stylotella sp., ekstraksi
Tahapan Pengembangan Koleksi Disabilitas Di Perpustakaan Perguruan Tinggi (Studi Kasus Perpustakaan UIN Sunan Kalijaga Yogyakarta)
Authors: Yusma Sari Riazmi , Masruri Anis 
Published: January 2021

<p>The core process of activities in a library is to develop collections for the advancement of knowledge sources. Collection development in this research is in the library of Sunan Kalijaga State Islamic University of Yogyakarta. This study aims to determine the stages of collection development at the UIN Sunan Kalijaga Yogyakarta library, and its object, namely students with disabilities.<strong></strong></p><p> </p><p>This research uses a qualitative research method with a descriptive approach. Data collection techniques used in this study were through observation and interviews. Observations were carried out by directly jumping into the field to explore information related to the stages of collection development, and interviews were conducted with Mrs. Dra. Ida Nor'aini Hadna, M.Pd (Kobid Technical Services) and Isrowiyanti (Information Kour).</p><p>Based on this research, it was concluded that the stages of collection development offered by Evans with 6 components of activities consisting of community analysis in this case the user community, selection policy, selection, procurement, weeding, and evaluation. This theory is applied in the Sunan Kalijaga UIN Yogyakarta library. Normal students and people with disabilities at UIN Sunan Kalijaga Yogyakarta have the same knowledge needs, grouped in the same class. But in this case what distinguishes it is the way to access that is done by students with disabilities with the addition of assistance through audio and visual media and others.</p>