bluuebunny/crossref_metadata_2025_split huggingface dataset:
Mayo Normative Studies: Amyloid and Neurodegeneration Negative Normative Data for the Auditory Verbal Learning Test and Sex-Specific Sensitivity to Mild Cognitive Impairment/Dementia
Authors: Stricker Nikki H. , Christianson Teresa J. , Pudumjee Shehroo B. , Polsinelli Angelina J. , Lundt Emily S. , Frank Ryan D. , Kremers Walter K. , Machulda Mary M. , Fields Julie A. , Jack Clifford R. , Knopman David S. , Graff-Radford Jonathan , Vemuri Prashanthi , Mielke Michelle M. , Petersen Ronald C. 
Published: July 2024

Background: Conventional normative samples include individuals with undetected Alzheimer’s disease neuropathology, lowering test sensitivity for cognitive impairment. Objective: We developed Mayo Normative Studies (MNS) norms limited to individuals without elevated amyloid or neurodegeneration (A–N–) for Rey’s Auditory Verbal Learning Test (AVLT). We compared these MNS A–N– norms in female, male, and total samples to conventional MNS norms with varying levels of demographic adjustments. Methods: The A–N– sample included 1,059 Mayo Clinic Study of Aging cognitively unimpaired (CU) participants living in Olmsted County, MN, who are predominantly non-Hispanic White. Using a regression-based approach correcting for age, sex, and education, we derived fully-adjusted T-score formulas for AVLT variables. We validated these A–N– norms in two independent samples of CU ( n = 261) and mild cognitive impairment (MCI)/dementia participants ( n = 392) > 55 years of age. Results: Variability associated with age decreased by almost half in the A–N– norm sample relative to the conventional norm sample. Fully-adjusted MNS A–N– norms showed approximately 7– 9% higher sensitivity to MCI/dementia compared to fully-adjusted MNS conventional norms for trials 1– 5 total and sum of trials. Among women, sensitivity to MCI/dementia increased with each normative data refinement. In contrast, age-adjusted conventional MNS norms showed greatest sensitivity to MCI/dementia in men. Conclusions: A–N– norms show some benefits over conventional normative approaches to MCI/dementia sensitivity, especially for women. We recommend using these MNS A–N– norms alongside MNS conventional norms. Future work is needed to determine if normative samples that are not well characterized clinically show greater benefit from biomarker-refined approaches.
Cognition Mediates the Association Between Cerebrospinal Fluid Biomarkers of Amyloid and P-Tau and Neuropsychiatric Symptoms
Authors: Frank Brandon , Walsh Michael , Hurley Landon , Groh Jenna , Blennow Kaj , Zetterberg Henrik , Tripodis Yorghos , Budson Andrew E. , O’Connor Maureen K. , Martin Brett , Weller Jason , McKee Ann , Qiu Wendy , Stein Thor D. , Stern Robert A. , Mez Jesse , Henson Rachel , Long Justin , Aschenbrenner Andrew J. , Babulal Ganesh M. , Morris John C. , Schindler Suzanne , Alosco Michael L. 
Published: July 2024

Background: Neuropsychiatric symptoms (NPS) can be an early manifestation of Alzheimer’s disease (AD). However, the associations among NPS, cognition, and AD biomarkers across the disease spectrum are unclear. Objective: We analyzed cross-sectional mediation pathways between cerebrospinal fluid (CSF) biomarkers of AD (Aβ1-42, p-tau181), cognitive function, and NPS. Methods: Primary models included 781 participants from the National Alzheimer’s Coordinating Center (NACC) data set who had CSF analyzed for AD biomarkers using Lumipulse. NPS were assessed with the Neuropsychiatric Inventory Questionnaire (NPI-Q). We assessed cognition with the harmonized MMSE/MoCA, as well as neuropsychological tests sensitive to AD pathology: story recall, naming, animal fluency, and Trails B. The Clinical Dementia Rating (CDR®) scale assessed dementia severity. Mediation models were estimated with Kemeny metric covariance in a structural equation model framework, controlling for age, education, sex, and APOE ɛ4. Results: The sample was older adults ( M = 73.85, SD = 6.68; 49.9% male, 390; 27.9% dementia, 218) who were predominantly white ( n = 688, 88.1%). Higher p-tau181/Aβ1-42 ratio predicted higher NPI-Q, which was partially mediated by the MMSE/MoCA and, in a second model, story recall. No other pathway was statistically significant. Both the MMSE/MoCA and NPI-Q independently mediated the association between p-tau181/Aβ1-42 ratio and CDR global impairment. With dementia excluded, p-tau181/Aβ1-42 ratio was no longer associated with the NPI-Q. Conclusions: NPS may be secondary to cognitive impairment and AD pathology through direct and indirect pathways. NPS independently predict dementia severity in AD. However, AD pathology likely plays less of a role in NPS in samples without dementia.
Characterization of Clinical Phenotypes in Congenital Myasthenic Syndrome Associated with the c.1327delG Frameshift Mutation in CHRNE Encoding the Acetylcholine Receptor Epsilon Subunit
Authors: Kastreva Kristina , Chamova Teodora , Blagoeva Stanislava , Bichev Stoyan , Mihaylova Violeta , Meyer Stefanie , Thompson Rachel , Cherninkova Sylvia , Guergueltcheva Velina , Lochmuller Hanns , Tournev Ivailo 
Published: July 2024

Background: Congenital myasthenic syndromes (CMS) are a group of rare but often treatable inherited disorders of neuromuscular transmission characterized by fatigable skeletal muscle weakness. In this paper we present the largest phenotypic analysis to date of a cohort of patients carrying the pathogenic variant c.1327delG in the CHRNE gene, leading to CHRNE-CMS. Objective: This study aims to identify the phenotypic variability in CMS associated with c.1327delG mutation in the CHRNE gene. Methods: Disease specific symptoms were assessed using specific standardized tests for autoimmune myasthenia (Quantitative Myasthenia Gravis score) as well as patient-reported scales for symptom severity. Evaluated clinical manifestations included ocular symptoms (ophthalmoparesis and ptosis), bulbar weakness, axial muscle weakness, proximal and distal muscle weakness, and respiratory function. Patients were allocated into three groups according to clinical impression of disease severity: mild, moderate, and severe. Results: We studied 91 Bulgarian Roma patients, carrying the same causative homozygous CHRNE c.1327delG mutation. Bulbar weakness was present in patients throughout all levels of severity of CHRNE-CMS in this study. However, difficulties in eating and swallowing are more prominent characteristics in the moderate and severe clinical phenotypes. Diplopia and ptosis resulting from fatigue of the extraocular muscles were permanent features regardless of disease severity or age. Levels of axial, proximal and distal muscle weakness were variable between disease groups. The statistical analysis showed significant differences between the patients in the three groups, emphasizing a possible variation in symptom manifestation in the evaluated patient population despite the disease originating from the same genetic mutation. Impairment of respiratory function was more prominent in severely affected patients, which might result from loss of compensatory muscle function in those individuals. Conclusion: Results from our study indicate significant phenotypic heterogeneity leading to mild, moderate, or severe clinical manifestation in CHRNE-CMS, despite the genotypic homogeneity.
Smartphone-Based Assessment of Mobility and Manual Dexterity in Adult People with Spinal Muscular Atrophy
Authors: Arteaga-Bracho Eduardo , Cosne Gautier , Kanzler Christoph , Karatsidis Angelos , Mazzà Claudia , Penalver-Andres Joaquin , Zhu Cong , Shen Changyu , Erb M. Kelley , Freigang Maren , Lapp Hanna-Sophie , Thiele Simone , Wenninger Stephan , Jung Erik , Petri Susanne , Weiler Markus , Kleinschnitz Christoph , Walter Maggie C. , Günther René , Campbell Nolan , Belachew Shibeshih , Hagenacker Tim 
Published: July 2024

Background: More responsive, reliable, and clinically valid endpoints of disability are essential to reduce size, duration, and burden of clinical trials in adult persons with spinal muscular atrophy (aPwSMA). Objective: The aim is to investigate the feasibility of smartphone-based assessments in aPwSMA and provide evidence on the reliability and construct validity of sensor-derived measures (SDMs) of mobility and manual dexterity collected remotely in aPwSMA. Methods: Data were collected from 59 aPwSMA (23 walkers, 20 sitters and 16 non-sitters) and 30 age-matched healthy controls (HC). SDMs were extracted from five smartphone-based tests capturing mobility and manual dexterity, which were administered in-clinic and remotely in daily life for four weeks. Reliability (Intraclass Correlation Coefficients, ICC) and construct validity (ability to discriminate between HC and aPwSMA and correlations with Revised Upper Limb Module, RULM and Hammersmith Functional Scale - Expanded HFMSE) were quantified for all SDMs. Results: The smartphone-based assessments proved feasible, with 92.1% average adherence in aPwSMA. The SDMs allowed to reliably assess both mobility and dexterity (ICC > 0.75 for 14/22 SDMs). Twenty-one out of 22 SDMs significantly discriminated between HC and aPwSMA. The highest correlations with the RULM were observed for SDMs from the manual dexterity tests in both non-sitters (Typing, ρ= 0.78) and sitters (Pinching, ρ= 0.75). In walkers, the highest correlation was between mobility tests and HFMSE (5 U-Turns, ρ= 0.79). Conclusions: This exploratory study provides preliminary evidence for the usability of smartphone-based assessments of mobility and manual dexterity in aPwSMA when deployed remotely in participants’ daily life. Reliability and construct validity of SDMs remotely collected in real-life was demonstrated, which is a pre-requisite for their use in longitudinal trials. Additionally, three novel smartphone-based performance outcome assessments were successfully established for aPwSMA. Upon further validation of responsiveness to interventions, this technology holds potential to increase the efficiency of clinical trials in aPwSMA.
Cardiovascular risk in young healthcare professionals: A cross-sectional study
Authors: Imeshtari Valentin , Imeshtari Anila , La Torre Giuseppe 
Published: July 2024

BACKGROUND: In the last years cardiovascular risk has decreased in grown adults and elderly while it seems to be rising among young adults. OBJECTIVE: to assess the 10-year cardiovascular risk (CVR) in young healthcare professionals at the teaching hospital in Rome, using two scores, and identify possible determinants in order to design and implement preventive strategies. METHODS: A cross-sectional study was carried out between January 2019 and July 2020. Participants underwent medical history collection, physical examination, and blood tests. CVR was calculated using CUORE and Framingham Risk Scores. A multiple linear regression analysis was conducted having the scores as dependent variables. Diagnostic tests were used for checking model assumptions. RESULTS: The study was carried out including 525 participants, 58.5% physicians and 32.1% nurses. Multivariate analysis was carried out only for men, since the pp plot for the whole population and for females for the dependent variables showed some evidence of non-normality, and the residual plot shows variance of the residuals was not constant across the range of fitted values. CVR, using the Framingham equation, directly correlated with age (β = 0.260; p < 0.001). Using the CUORE score, qualification as a physician (p < 0.001) is associated with a lower risk of having a CVR, while age (p < 0.001) is directly proportional to this risk. CONCLUSIONS: Increasing age consistently emerges as a prominent factor, positively influencing both the Framingham risk score and CUORE score, but this association was found only for men. Being a doctor is a protective factor for the CUORE score.
Perancangan UI/UX Layanan Jahit Pakaian Dengan Menggunakan Pendekatan Design Thinking di Kota Malang
Authors: Lefteuw Everista Richarda , Ramadhan Viry Puspaning 
Published: July 2024

Perkembangan teknologi sangat mempengaruhi kebutuhan hidup dan cara berpikir masyarakat, khususnya perkembangan perangkat lunak teknologi. Hal ini kemudian membuat perkembangan User Interface (UI) dan User Experience (UX) perlu menjadi perhatian. Saat ini jumlah penjahit di Kota Malang sudah semakin banyak dan memiliki keahlian khusus yang berbeda-beda, serta permintaan konsumen juga semakin meningkat sehingga untuk mendapatkan tempat jahit, pelanggan harus meluangkan waktu dan datang langsung ke penjahit. Masalahannya, tidak semua orang bisa mengetahui semua lokasi tempat jahit di sekitar rumahnya dan apakah tempat jahit tersebut masih bisa menerima pelanggan atau tidak. Pada penelitian ini bertujuan untuk merancang prototype aplikasi layanan jahit pakaian di Kota Malang dan untuk menyediakan informasi layanan jahit pakaian yang bisa sesuai dengan kebutuhan masyarakat. Peneliti menggunakan Penerapan Design Thinking karena mampu menghasilkan solusi yang lebih inovatif dan efektif dalam merancang produk atau layanan dan menggunakan aplikasi figma untuk merancang prototype. Pada proses pengujian dilakukan secara online dengan menggunakan Maze Design sebagai pengujian pada desain antarmuka dan System Usability Scale (SUS) yang bertujuan untuk mengukur persepsi pengguna terhadap ketergunaan antarmuka. Hasil pengujian dengan menggunakan SUS (system usability scale) memperoleh nilai rata-rata yaitu 71,38 maka dapat disimpulkan bahwa sistem tersebut bisa diterima dengan baik karena masuk kedalam kategori acceptable.
BEYOND THE DUMP: UNMASKING THE CUMULATIVE HEALTH RISKS OF HEAVY METALS IN GROUNDWATER SAMPLES NEAR GOSA DUMPSITE, FCT, ABUJA, NIGERIA
Authors: Opasola O. A. , Otto E. , Salami J. T. , Adiama B. Y. 
Published: July 2024

Concerns about heavy metal (HM) contamination of groundwater from dumpsite leachate have global human health implications. The study assessed the concentration level of Manganese (Mn), Lead (Pb), Chromium (Cr), Cadmium (Cd), Copper (Cu) and Zinc (Zn) in the sampled well water near the Gosa dumpsite in FCT, Abuja. Water samples collected were taken to the laboratory in clean airtight plastic containers where HM analysis was performed on the water samples using atomic absorption spectroscopy (AAS) using standard procedures. The concentrations of the HM exceeded the recommended standards for drinking water by both the World Health Organization (WHO) and Standard Organization of Nigeria (SON) except Mn that was within the WHO permissible standard but exceeded the SON permissible limit. Regular consumption of well water near the Gosa dumpsite pose a carcinogenic health risk with respect to Pb, Cr and Cd exposure via oral routes. The cumulative non-carcinogenic risk effect of the HM as indicated by the Hazard Index (HI) exceeded a value of one (HQ>1) to both groups of consumers with children having higher values compared to adults. The study recommends the need to monitor the quality of water while ensuring proactive action is taken by environmental agencies to tackle the looming threat.
Faktor yang Memengaruhi Partisipasi Wanita Pekerja Seks pada Layanan VCT
Authors: Widati Ayu , Kusumastuti Istiana 
Published: July 2024

VCT sebagai pintu masuk bagi masyarakat untuk memperoleh akses ke semua layanan HIV/AIDS. Wanita pekerja seks adalah populasi beresiko terinfeksi HIV/AIDS, penemuan kasus secara dini dalam pencegahan HIV. Jumlah kunjungan WPS yang sudah melakukan VCT di Kota Bogor Tahun 2018 adalah sebanyak 264 kunjungan sementara estimasi populasi WPS adalah 518 orang. Tujuan penelitian untuk mengetahui pengaruh langsung dan tidak langsung, besarannya antara media informasi, fasilitas kesehatan, peran petugas kesehatan, dukungan keluarga dan persepsi terhadap partisipasi WPS pada layanan VCT di Wilayah Puskesmas Bogor Tengah Tahun 2020. Penelitian ini menggunakan metode deskriptif analitik dengan pendekatan cross sectional. Uji Statitik menggunakan Structural Equation Model (SEM) dengan smartPLS. Sampel dalam penelitian berjumlah 80 WPS. Teknik pengambilan sampel menggunakan purposive sampling. Hasil penelitian menunjukkan bahwa partisipasi WPS pada layanan VCT di Puskesmas Bogor Tengah dipengaruhi oleh media informasi (19,64%), fasilitas kesehatan (21,90%), peran petugas kesehatan (15,37%), dukungan keluarga (9,67%) dan persepsi (15,43%). Pengaruh langsung partisipasi WPS pada layanan VCT di sebesar 82,00% dan pengaruh tidak langsung sebesar 3.74%. Saran penelitian Puskesmas untuk meningkatkan mutu dari segi pelayanan, kelengkapan fasilitas pemeriksaan dan penunjang, media promosi berupa poster, leaflet demi memberikan layanan prima bagi masyarakat dan lebih sering melakukan VCT mobile untuk menjangkau lebih banyak WPS.
Pengaruh Enam Variabel terhadap Perilaku Pencegahan HIV pada Remaja
Authors: Sadela Ria , Rindu Rindu , Darmadja Sobar 
Published: July 2024

Masih kurangnya pengetahuan remaja tentang perilaku pencegahan pada Human Immunodeficiency Virus (HIV). HIV merupakan penyebab penyakit Acquired Immunodeficiency Syndrome (AIDS) dengan cara menyerang sel darah putih sehingga dapat merusak sistem kekebalan tubuh manusia. Tujuan penelitian ini untuk mengetahui pengaruh langsung dan tidak langsung serta besarannya media informasi, peran petugas kesehatan, peran keluarga, teman sebaya, pengetahuan dan sikap terhadap perilaku pencegahan HIV pada remaja. Metode yang digunakan dalam penelitian ini adalah pendekatan kuantitatif yang menggunakan cross sectional. Sampel yang igunakan sebanyak 130 remaja sebagai responden. Metode analisis yang digunakan adalah Structural Equation Model (SEM). Hasil penelitian ini menunjukan adanya pengaruh langsung perilaku pencegahan HIV terhadap media informasi (21,85%), peran petugas kesehatan (20,31%), peran keluarga (5,13%), tema sebaya (4,80%), pengetahuan (23,50%) dan sikap (9,89%). Total dari Pengaruh langsung perilaku pencegahan HIV pada remaja sebesar 85,50% sedangkan total pengaruh tidak langsung sebesar 0,76% serta jumlah pengaruh langsung dan pengaruh tidak langsung sebesar 86,25%. Pengetahuan merupakan faktor yang sangat dominan mempengaruhi perilaku pencegahan HIV pada remaja. Semakin banyak pengetahuan diberikan kepada remaja maka akan semakin baik pula perilaku pencegahan HIV. Diharapkan dalam penelitian ini orang tua dapat memberikan bimbingan sejak dini pada anak agar tidak melakukan perilaku yang menyimpang, bukan hanya tugas orang tua tetapi pera petugas kesehatan, media informasi untuk lebih meningkatkan komunikasi, informasi dan edukasi agar dapat meningkatkan pengetahuan remaja mengenai perilaku pencegahan HIV.
Faktor-Faktor Penyebab Remaja Menikah Dibawah Usia 18 Tahun
Authors: Hanifa Fanni , Dhamayanti Meita , Akbar Ieva Baniasih , Rusmil Kusnandi , Sunjaya Deni K 
Published: July 2024

Pernikahan anak akan selalu menjadi kekhawatiran bidang kesehatan, karena akan sangat membahayakan bagi kesehatan ibu dan anak, terutama pada saat kehamilan dan persalinan. Pernikahan anak dapat menyumbang angka kesakitn ibu dan anak bahkan sampai kematian. Penelitian ini bertujuan untuk mengetahui faktor-faktor penyebab remaja menikah dibawah usia 18 tahun di Kecamatan Ciawi Kabupaten Tasikmalaya. Penelitian ini merupakan penelitian kualitatif dengan strategi fenomenologi menggunakan metode indepth interview. Hasil yang didapatkan adanya penyebab dari pernikahan dibawah usia 18 tahun diantaraya sikap remaja karena pengaruh media elektronik, pendidikan dan pengerahuan rendah serta hubungan sosial di lingkungannya, dorongan biologis dan aktualisasi diri akibat dari pemenuhan kebutuhan ekonomi dan peningkatan tingkat sosial. Pergaulan menyimpang akibat dari seks bebas, penggunakaan alkohol serta penggunaan narkoba juga menjadikan faktor penyebabnya. Pengawasan orangtua yang rendah dapat menyebabkan anak bebas sehingga pergaulan dapat tidak terkontrol, peran sekolah serta peran tenaga kesehatan juga dianggap mampu untuk menjadikan sikap remaja dapat menikah dibawah usia 18 tahun karena kurangnya pendidikan kesehatan serta pendidikan moral.
Hubungan Tingkat Pengetahuan tentang Keputihan dengan Perilaku Vulva Hygiene Remaja Putri
Authors: Mastina Mastina , Rahmah Rahmah 
Published: July 2024

Kesehatan reproduksi wanita yang baik merupakan hal sangat penting. Masalah kesehatan reprodukasi merupakan penyebab utama gangguan pada wanita kelompok usia reproduksi diseluruh dunia terutama negara berkembang. 33 % masalah organ reproduksi dihadapi oleh wanita diseluruh dunia salah satunya adalah keputihan. Indonesia 75% Perempuan di Indonesia pernah mengalami keputihan, dan minimal satu kali dalam hidupnya. Tujuan penelitian ini adalah melihat hubungan tingkat pengetahuan tentang keputihan dengan perilaku personal hygiene remaja putri. Jenis penelitian ini adalah observasional analitik dengan rancangan cross sectional. Teknik pengambilan sampel menggunakan purposive sampling dengan sampel sebanyak 116 responden. hasil penelitian analisis data menggunakan uji kendall Tau sebesar t hitung: 0.736, pada N: 116 α: 0.05 Zhitung:12.07 Ztabel(1-α): 1.94, artinya H0 di tolak dan Ha diterima. Saran diharapkan berbagai pihak khususnya tenaga kesehatan dapat memberikan pendidikan kesehatan, kampanye komunitas massal melalui internet dan jejaring sosial, serta pemanfaatan layanan kesehatan secara online penyedia harus dipromosikan untuk meningkatkan kesadaran. Menurunkan angka kejadian keputihan yang tidak normal melalui pencegahan keputihan dengan meningkatkan pengetahuan dan praktik Vulva higiene.
Efektifitas Penggunaan Buku Bergambar dan Lagu untuk Mencegah Kekerasan Seksual pada Anak Usia 4 – 6 Tahun
Authors: Sugesti Retno Sugesti , Kumaladewi Fazar 
Published: July 2024

Anak merupakan generasi penerus bangsa yang dinantikan dalam setiap keluarga dalam memberikan kebahagian kepada orang tua. Tujuan penelitian ini adalah mengetahui Efektivitas penggunaan buku bergambar dan lagu cegah seksual untuk mencegah kekerasan seksual pada anak usia 4-6 tahun di RW 12 Perumahan D’Palm Residence, Depok Tahun 2020. Penelitian ini dilakukan karena di dapatkan data masih tinggi kejadian korban pelecehan seksual yang dilakukan oleh guru maupun orang terdekat dari anak.. Penelitian ini menggunakan metode quasi experiment design dengan bentuk case control pretest-posttest design. Total Sampel pada penelitian ini sebanyak 18 anak dengan 9 orang untuk kelompok dengan perlakuan buku bergambar dan 9 orang untuk kelompok dengan perlakuan lagu cegah seksual online (mp4). Hasil penelitian didapatkan bahwa hasil uji statistik pada penggunaan buku bergambar didapatkan p-value sebesar 0,000 (p-value < 0,05), dan pada penggunaan lagu cegah seksual didapatkan p-value sebesar 0,009 (p-value < 0,05), maka dapat disimpulkan penggunaan buku bergambar dan lagu cegah seksual terdapat efektivitas dalam meningkatkan pengetahuan anak untuk mencegah kekerasan seksual. Berdasarkan hasil penelitian diperoleh nilai –t hitung < -t table ( -0,418 < 2,119) artinya ada perbedaan efektivitas penggunaan buku bergambar dengan lagu cegah seksual. Nilai t hitung negatif berarti penggunaan buku bergambar lebih rendah efektivitasnya daripada penggunaan lagu cegah seksual. Kesimpulan dari penelitian ini penggunaan buku bergambar dan lagu cegah seksual memiliki efektivitas yang baik untuk mencegah kekerasan seksual pada anak. Hasil penelitian ini diharapkan menjadi dasar bagi petugas kesehatan dan orang tua dalam memperkenalkan pendidikan seksual secara dini untuk mencegah kekerasan seksual dengan metode buku bergambar dan lagu.