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23 pages, 2353 KiB  
Article
Seaweeds of the Israeli Mediterranean Sea: Nutritional and Biotechnological Potential Through Seasonal and Species Variation
by Doron Yehoshua Ashkenazi, Félix L. Figueroa, Julia Vega, Shoshana Ben-Valid, Guy Paz, Eitan Salomon, Avigdor Abelson and Álvaro Israel
Mar. Drugs 2025, 23(8), 320; https://doi.org/10.3390/md23080320 - 4 Aug 2025
Viewed by 283
Abstract
Macroalgae (seaweeds) produce unique bioactive metabolites that have enabled their survival for millions of years, offering significant potential for human benefits. In the Israeli Mediterranean Sea, no comprehensive systematic surveys of seaweeds have been published since the 1990s, and their chemical composition remains [...] Read more.
Macroalgae (seaweeds) produce unique bioactive metabolites that have enabled their survival for millions of years, offering significant potential for human benefits. In the Israeli Mediterranean Sea, no comprehensive systematic surveys of seaweeds have been published since the 1990s, and their chemical composition remains largely unexplored. This study presents an extensive survey of intertidal seaweed communities along the shallow Israeli coastline, documenting their spatial, temporal, and biochemical diversity. Of the 320 specimens collected, 55 seaweed species were identified: 29 red (Rhodophyta), 14 brown (Phaeophyceae), and 12 green (Chlorophyta). A significant shift in species abundance was documented, with a single dominant annual bloom occurring during spring, unlike previously reported biannual blooms. Chemical analysis of the dominant species revealed significant seasonal variations in compound levels, with higher protein content in winter and increased antioxidant capacity during spring. Phenolic and natural sunscreen compounds (mycosporine-like amino acids, MAAs) showed no general seasonal trend. These findings highlight the optimal environmental conditions for seaweed growth and underscore their potential for aquaculture and biotechnology. We hypothesize that the ecologically unique conditions of the Israeli Mediterranean Sea may foster resilient seaweed species enriched with distinctive chemical properties, suitable for nutritional, health, pharmaceutical, and nutraceutical applications, particularly as climate-adaptive bioresources. Full article
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13 pages, 1058 KiB  
Article
A Machine Learning-Based Guide for Repeated Laboratory Testing in Pediatric Emergency Departments
by Adi Shuchami, Teddy Lazebnik, Shai Ashkenazi, Avner Herman Cohen, Yael Reichenberg and Vered Shkalim Zemer
Diagnostics 2025, 15(15), 1885; https://doi.org/10.3390/diagnostics15151885 - 28 Jul 2025
Viewed by 329
Abstract
Background/Objectives: Laboratory tests conducted in community settings are occasionally repeated within hours of presentation to pediatric emergency departments (PEDs). Reducing unnecessary repetitions can ease child discomfort and alleviate the healthcare burden without compromising the diagnostic process or quality of care. The aim [...] Read more.
Background/Objectives: Laboratory tests conducted in community settings are occasionally repeated within hours of presentation to pediatric emergency departments (PEDs). Reducing unnecessary repetitions can ease child discomfort and alleviate the healthcare burden without compromising the diagnostic process or quality of care. The aim of this study was to develop a decision tree (DT) model to guide physicians in minimizing unnecessary repeat blood tests in PEDs. The minimal decision tree (MDT) algorithm was selected for its interpretability and capacity to generate optimally pruned classification trees. Methods: Children aged 3 months to 18 years with community-based complete blood count (CBC), electrolyte (ELE), and C-reactive protein (CRP) measurements obtained between 2016 and 2023 were included. Repeat tests performed in the pediatric emergency department within 12 h were evaluated by comparing paired measurements, with tests considered justified when values transitioned from normal to abnormal ranges or changed by ≥20%. Additionally, sensitivity analyses were conducted for absolute change thresholds of 10% and 30% and for repeat intervals of 6, 18, and 24 h. Results: Among 7813 children visits in this study, 6044, 1941, and 2771 underwent repeated CBC, ELE, and CRP tests, respectively. The mean ages of patients undergoing CRP, ELE, and CBC testing were 6.33 ± 5.38, 7.91 ± 5.71, and 5.08 ± 5.28 years, respectively. The majority were of middle socio-economic class, with 66.61–71.24% living in urban areas. Pain was the predominant presented complaint (83.69–85.99%), and in most cases (83.69–85.99%), the examination was conducted by a pediatrician. The DT model was developed and evaluated on training and validation cohorts, and it demonstrated high accuracy in predicting the need for repeat CBC and ELE tests but not CRP. Performance of the DT model significantly exceeded that of the logistic regression model. Conclusions: The data-driven guide derived from the DT model provides clinicians with a practical, interpretable tool to minimize unnecessary repeat laboratory testing, thereby enhancing patient care and optimizing healthcare resource utilization. Full article
(This article belongs to the Special Issue Artificial Intelligence for Health and Medicine)
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43 pages, 5707 KiB  
Article
Jewish Presence in the Land of Israel in the 19th Century: Insights from the Montefiore Censuses
by Raquel Levy-Toledano, Wim Penninx and Sergio DellaPergola
Genealogy 2025, 9(3), 72; https://doi.org/10.3390/genealogy9030072 - 17 Jul 2025
Viewed by 1669
Abstract
This article presents a new evaluation and analysis of the five censuses undertaken at the initiative of philanthropist Sir Moses Montefiore among the Jewish population of Palestine/the Land of Israel between 1839 and 1875. The main purpose of the censuses was to ascertain [...] Read more.
This article presents a new evaluation and analysis of the five censuses undertaken at the initiative of philanthropist Sir Moses Montefiore among the Jewish population of Palestine/the Land of Israel between 1839 and 1875. The main purpose of the censuses was to ascertain the composition and needs of a generally poor Jewish population in order to better provide to its welfare. The information collected concerned basic demographic characteristics, countries of origin—namely along the main divide of Ashkenazi and Sephardi/Mizrahi Jews—and periods of immigration, social composition, and religiosity. By combining the different censuses into an integrated database, the authors are able to show changes intervening over time not only regarding the aggregate population, but also concerning individual and household profiles. The data aggregation allows us to better understanding the material conditions of the Jewish population and to outline with greater accuracy the relationship between socio-cultural communities and socio-economic stratification. The analysis unveiled the patterns of Jewish immigration all along the surveyed period and its variations by size and by countries of origin. These data provide important evidence concerning the overall Jewish presence in the Land of Israel and demonstrate that immigration was a significant factor well before the formal beginning of Aliyah in the early 1880s. No such analysis of the whole set of Montefiore censuses had been performed previously. The findings will prove very useful to historians and social scientists in their further investigation of the area and its populations in the 19th century. Full article
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16 pages, 3298 KiB  
Article
A Novel Pathogenic Variant Identified in HIKESHI-Related Hypomyelinating Leukodystrophy Disrupts Heat Shock Response in iPSCs
by Mahmood Ali Saleh, Maria Boichuck, Aner Ottolenghi, Tatiana Rabinski, Omri Goldenthal, Daniel Sevilla Sanchez, Aviva Fattal-Valevski, Gali Heimer, Shay Ben-Shachar, Stephanie Libzon, Orly Gershoni-Yahalom, Anat Ben-Zvi, Raz Zarivach, Ayelet Zerem, Benyamin Rosental and Gad David Vatine
Int. J. Mol. Sci. 2025, 26(13), 6037; https://doi.org/10.3390/ijms26136037 - 24 Jun 2025
Viewed by 630
Abstract
HIKESHI-related hypomyelinating leukodystrophy (HHL) is a life-threatening disorder caused by homozygous pathogenic variants in HIKESHI. Symptoms include infantile onset progressive spastic dystonic quadriplegia, nystagmus, failure to thrive, diffused hypomyelination, and severe morbidity or death following febrile illness. V54L variants in HIKESHI are [...] Read more.
HIKESHI-related hypomyelinating leukodystrophy (HHL) is a life-threatening disorder caused by homozygous pathogenic variants in HIKESHI. Symptoms include infantile onset progressive spastic dystonic quadriplegia, nystagmus, failure to thrive, diffused hypomyelination, and severe morbidity or death following febrile illness. V54L variants in HIKESHI are particularly prevalent within the Ashkenazi Jewish population. Here, we identified a novel P78S disease-causing variant in HIKESHI in a patient of Christian Arab origin, presenting with clinical and radiologic features characteristic of HHL. In silico analysis suggests that the mutated residue may affect the HIKESHI protein’s dimerization domain. We generated a comprehensive set of induced pluripotent stem cells (iPSCs) from the index case and two additional HHL patients. To investigate mechanisms potentially linked to febrile illness in HHL, we used these cells to study the heat shock (HS) response. HHL-iPSCs showed dramatically decreased levels of HIKESHI compared with healthy controls following HS. In addition, they exhibited increased HSP70 mRNA levels in response to HS, suggesting an increased sensitivity. HHL-iPSCs had impaired HSP70 translocation to the nucleus. Our results provide a human-relevant model for HHL. Full article
(This article belongs to the Section Molecular Pathology, Diagnostics, and Therapeutics)
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18 pages, 771 KiB  
Article
Metabolic and Inflammatory Biomarkers Predicting Sarcopenic Obesity and Cardiometabolic Risk in Arab Women: A Cross-Sectional Study
by Gregory Livshits, Nader Tarabeih, Alexander Kalinkovich, Adel Shalata and Shai Ashkenazi
Int. J. Mol. Sci. 2025, 26(12), 5699; https://doi.org/10.3390/ijms26125699 - 13 Jun 2025
Viewed by 1275
Abstract
The sarcopenic obesity-related phenotype (SOP) is defined by the coexistence of sarcopenia and obesity, leading to heightened disability, morbidity, and mortality. Its multifactorial pathogenesis involves chronic inflammation and metabolic alterations. In this cross-sectional study, 562 women were classified into four groups: control, sarcopenic, [...] Read more.
The sarcopenic obesity-related phenotype (SOP) is defined by the coexistence of sarcopenia and obesity, leading to heightened disability, morbidity, and mortality. Its multifactorial pathogenesis involves chronic inflammation and metabolic alterations. In this cross-sectional study, 562 women were classified into four groups: control, sarcopenic, obese, and SOP. Body composition measurements, including fat mass, skeletal muscle mass, and extracellular water (ECW), were assessed using the bioimpedance method. Several inflammatory biomarkers were measured in plasma samples by ELISA. Discriminant function analysis identified age, ECW, chemerin, the systemic immune-inflammation index (SII), and the ratio of total cholesterol to high-density lipoprotein cholesterol (TC/HDL-C) as significant discriminators among groups, clearly distinguishing SOP from control. Multivariable logistic regression analysis revealed that these variables were independently associated with SOP status (SOP vs. control), regardless of age, with odds ratios (ORs) ranging from 1.87 (95% confidence interval [CI]: 1.23–2.85) for SII to 7.77 (95% CI: 3.67–16.44) for ECW. A generalized estimating equation (GEE) analysis further demonstrated that SOP significantly increased the odds (OR: 3.04; 95% CI: 1.39–6.67) of multimorbidity (hypertension (HTN) + hyperlipidemia (HLD) + type 2 diabetes (D2T)). These findings suggest SOP is a clinically relevant phenotype linked to cardiometabolic comorbidities and systemic inflammation. Identifying SOP using accessible body composition and biomarker assessments may support early risk stratification and guide personalized preventive strategies in clinical care. Full article
(This article belongs to the Section Molecular Endocrinology and Metabolism)
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11 pages, 393 KiB  
Article
BRCA Screening and Identification of a Common Haplotype in the Jewish Community of Rome Reveal a Founder Effect for the c.7007G>C, p. (Arg2336Pro) BRCA2 Variant
by Laura De Marchis, Alain Jonathan Gelibter, Giulia Mammone, Raffaele Angelo Madaio, Paolo Aretini, Maria De Bonis, Stefania Zampatti, Cristina Peconi, Daniele Guadagnolo, Annarita Vestri, Antonio Pizzuti, Emiliano Giardina, Ettore Domenico Capoluongo and Angelo Minucci
Cancers 2025, 17(12), 1906; https://doi.org/10.3390/cancers17121906 - 8 Jun 2025
Viewed by 550
Abstract
Background/Objectives: Cancer risk-reducing strategies in Ashkenazi women carrying founder variants have a cost-effective effect on reducing cancer morbidity and mortality. The British and US guidelines recommend BRCA1/2 (BRCA) screening among Ashkenazi Jewish people to identify high-risk individuals. BRCA status has not [...] Read more.
Background/Objectives: Cancer risk-reducing strategies in Ashkenazi women carrying founder variants have a cost-effective effect on reducing cancer morbidity and mortality. The British and US guidelines recommend BRCA1/2 (BRCA) screening among Ashkenazi Jewish people to identify high-risk individuals. BRCA status has not been investigated yet in the Jewish community of Rome. Methods: Patients were selected from the Family Cancer Clinic of the Umberto I University Hospital of Rome, and 38 unrelated families (28 of Roman Jewish and 10 of Libyan Jewish origin) were enrolled, comprising 44 subjects diagnosed with breast and/or ovarian cancer. Genetic counseling and germline BRCA testing were conducted. Haplotype analysis was performed. Results: Of the probands, 26.5% (9/34) from 7/28 unrelated families (25%) in the Jewish community of Rome harbored the known BRCA2 c.7007G>C, p. (Arg2336Pro) variant (rs28897743). Genetic analysis of the four unrelated carriers revealed a shared haplotype, indicating a potential founder effect. The length of the haplotype might confirm the Roman community to be the oldest among Jewish communities in Europe. Conclusions: This study indicates the BRCA2 c.7007G>C variant found in the Jewish community of Rome to be a founder variant. Finally, we underline a pressing need to address the increased risk of carrying BRCA mutations among individuals with Jewish heritage, and to enhance genetic counseling and screening efforts in ethnic minorities that are not otherwise routinely reached. Full article
(This article belongs to the Special Issue Genomic Analysis of Breast Cancer)
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12 pages, 1786 KiB  
Review
Comprehensive Prenatal Genetic Analysis: From Non-Invasive Prenatal Testing to Whole-Exome Sequencing in a High-Risk Pregnancy with Gaucher Disease—A Case Report and Literature Review
by Ileana-Delia Săbău, Laurențiu-Camil Bohîlțea, Mihaela Țurcan, Adelina Silvana Gheorghe, Maria Riza, Mihai Mitroi, Antoanela Curici and Iuliana Ceaușu
J. Mind Med. Sci. 2025, 12(1), 25; https://doi.org/10.3390/jmms12010025 - 29 Apr 2025
Viewed by 1094
Abstract
Gaucher disease (GD) is the most common lysosomal storage disorder, with an increased prevalence among Ashkenazi Jews. It is an autosomal recessive metabolic disorder caused by pathogenic variants in the GBA1 gene. In this study, we present the case of a 35-year-old patient [...] Read more.
Gaucher disease (GD) is the most common lysosomal storage disorder, with an increased prevalence among Ashkenazi Jews. It is an autosomal recessive metabolic disorder caused by pathogenic variants in the GBA1 gene. In this study, we present the case of a 35-year-old patient who initially underwent comprehensive non-invasive prenatal testing (NIPT), which included monogenic disorder screening. The result indicated a very high risk for GD in the fetus. Subsequently, the patient opted for a confirmatory prenatal diagnostic test—prenatal Whole-Exome Sequencing (WES). The results ruled out the diagnosis of GD in the fetus and excluded other genetic disorders included in the panel. This case highlights the importance of confirmatory prenatal testing after a high-risk NIPT and underscores the value of a comprehensive approach, such as WES, in prenatal genetic diagnostics. Full article
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10 pages, 724 KiB  
Article
Timing of Debridement in Low-Grade Open Forearm Fractures Does Not Affect Infection Risk: A Retrospective Study
by Dani Rotman, Franck Atlan, Katherine Shehadeh, Itay Ashkenazi, Ron Gurel, Yishai Rosenblatt, Tamir Pritsch and Shai Factor
J. Clin. Med. 2025, 14(9), 2878; https://doi.org/10.3390/jcm14092878 - 22 Apr 2025
Viewed by 608
Abstract
Background: The timing of operative debridement for open upper extremity fractures has not been consistently shown to impact infection rates. Nevertheless, current treatment protocols continue to advocate for prompt surgical debridement in the operating room. We hypothesized that delaying the surgical treatment [...] Read more.
Background: The timing of operative debridement for open upper extremity fractures has not been consistently shown to impact infection rates. Nevertheless, current treatment protocols continue to advocate for prompt surgical debridement in the operating room. We hypothesized that delaying the surgical treatment of low-grade open forearm fractures beyond 24 h from presentation does not increase the likelihood of infection. Methods: The medical charts of patients who presented to a level one trauma center with Gustilo type 1 or 2 open forearm fractures between 2017 and 2020 were retrospectively reviewed. Treatment protocols for these low-grade open fractures included prompt wound irrigation in the emergency department and intravenous antibiotic treatment for 72 h, without emphasizing the timing of surgical intervention. Outcome measures included time to surgery, infection rate, and union rate. Results: The mean ± standard deviation age of the 62-patient cohort was 57 ± 20 years, and 30 (48%) were males. There were 9 proximal third, 16 midshaft, and 37 distal third fractures, of which 41 involved both bones. Forty-eight fractures were classified as Gustilo type 1 and fourteen as Gustilo type 2. Surgery was performed at a median interval of 47 h following presentation, with 43 (69%) patients undergoing surgery later than 24 h following presentation. There was one case (1.6%) of infection and three cases (4.8%) of non-union. Conclusions: Subject to small numbers, our findings suggest that in patients without risk factors, surgical treatment for low-grade open forearm fractures can be safely deferred without an apparent increase in infection rates. Accordingly, treatment protocols for these fractures may prioritize prompt and adequate antibiotic administration over the urgency of surgical intervention. Full article
(This article belongs to the Special Issue Modern Approaches to the Management of Orthopedic Injuries)
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30 pages, 4998 KiB  
Article
A Material Study of Persian-Period Silver Coins and Hacksilber from Samaria
by Dana Ashkenazi, Maayan Cohen, Haim Gitler, Mati Johananoff and Oren Tal
Materials 2025, 18(7), 1678; https://doi.org/10.3390/ma18071678 - 7 Apr 2025
Viewed by 734
Abstract
An assembly of fourth-century BCE Samarian silver coins and late-fifth-century BCE Samarian cut silver sheets, Sidonian and Philistian coins from a hacksilber hoard allegedly found in the region of Samaria belonging to the David and Jemima Jeselsohn collection, were characterized by metallurgical analyses. [...] Read more.
An assembly of fourth-century BCE Samarian silver coins and late-fifth-century BCE Samarian cut silver sheets, Sidonian and Philistian coins from a hacksilber hoard allegedly found in the region of Samaria belonging to the David and Jemima Jeselsohn collection, were characterized by metallurgical analyses. The aims of the research were to identify the items’ composition and manufacturing processes. We affirmed that the Samarian coins were made of silver–copper alloy produced by a controlled process. The microstructural and elemental analyses revealed that the sheets were produced from various materials, including pure silver, silver–copper, and silver–copper–gold alloys, whereas the Sidonian and Philistian coins were made of silver–copper alloy. Continuity in style and production techniques was observed. This information provides a better understanding of the material culture and technological skills in the Persian-period province of Samaria. Full article
(This article belongs to the Section Metals and Alloys)
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20 pages, 2799 KiB  
Article
Cannabidiol-Based Thiosemicarbazones: A Preliminary Study Evaluating Their Anti-Tyrosinase Properties
by Eliav Peretz, Noa Ashkenazi and Sanaa Musa
Molecules 2025, 30(6), 1291; https://doi.org/10.3390/molecules30061291 - 13 Mar 2025
Cited by 1 | Viewed by 767
Abstract
Cannabidiol (CBD), a non-psychoactive cannabinoid, has attracted significant research interest due to its antioxidant, anti-inflammatory, and neuroprotective properties. As a versatile scaffold in drug discovery, CBD has been widely explored for developing novel therapeutics. In this study, we synthesized and evaluated the anti-tyrosinase [...] Read more.
Cannabidiol (CBD), a non-psychoactive cannabinoid, has attracted significant research interest due to its antioxidant, anti-inflammatory, and neuroprotective properties. As a versatile scaffold in drug discovery, CBD has been widely explored for developing novel therapeutics. In this study, we synthesized and evaluated the anti-tyrosinase activity of CBD-based thiosemicarbazones. Structure–activity relationship (SAR) analyses were conducted to assess the impact of various functional groups on tyrosinase inhibition, including an evaluation of inhibitory kinetics for selected compounds. The synthesized derivatives demonstrated potent tyrosinase inhibition, with activity comparable to kojic acid, a standard tyrosinase inhibitor. Given the crucial role of tyrosinase in melanin biosynthesis, these findings suggest that CBD-based thiosemicarbazones could serve as promising candidates for managing tyrosinase-related disorders, including hyperpigmentation and melanogenesis-related conditions. Moreover, the presence of thiosemicarbazone moieties may contribute to the observed inhibitory effects, potentially through metal chelation at the enzyme’s active site. This study provides valuable insights into the design of CBD-derived inhibitors targeting tyrosinase. Further optimization and in-depth biological evaluation are warranted to explore their full therapeutic potential. Full article
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20 pages, 10609 KiB  
Article
An Ecological Comparison of Two Abandoned Heritage Orchards in Northern Israel
by Eli Ashkenazi, Ido Wachtel, Guy Bar-Oz, Roy Marom and Liora Kolska Horwitz
Heritage 2025, 8(2), 76; https://doi.org/10.3390/heritage8020076 - 15 Feb 2025
Viewed by 1350
Abstract
In this study, we documented two relict traditional Palestinian orchards; one was abandoned following the 1948 war when the farmers were exiled to Lebanon and the second was tended by farmers up until the early 1970s. The orchards examined are located in two [...] Read more.
In this study, we documented two relict traditional Palestinian orchards; one was abandoned following the 1948 war when the farmers were exiled to Lebanon and the second was tended by farmers up until the early 1970s. The orchards examined are located in two different Mediterranean phytogeographic regions, one in the hilly Upper Galilee and the other on the slopes of Mount Carmel in the hinterland of the Mediterranean coast. We found differences in the species composition and spatial layout of trees in each orchard which followed the dictates of the geographic settings, demonstrating the farmer’s knowledge of their environment. We discuss the importance of these orchards as part of the heritage horticultural systems of the region and explore possible measures that can be taken to preserve this unique historical arboricultural landscape and ways to empower local, traditional knowledge in promoting awareness for the conservation and preservation of heritage horticulture. Full article
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2 pages, 421 KiB  
Correction
Correction: Shkalim Zemer et al. Pathogens Causing Pediatric Community Acquired Urinary Tract Infections and Their Increasing Antimicrobial Resistance: A Nationwide Study. Pathogens 2024, 13, 201
by Vered Shkalim Zemer, Shai Ashkenazi, Yoel Levinsky, Yael Richenberg, Eyal Jacobson, Shay Nathanson, Tzippy Shochat, Shiri Kushnir, Moriya Cohen and Avner Herman Cohen
Pathogens 2025, 14(2), 150; https://doi.org/10.3390/pathogens14020150 - 5 Feb 2025
Viewed by 592
Abstract
In the original publication [...] Full article
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10 pages, 508 KiB  
Article
A Novel Medical Device for Airway Clearance
by Nir Helper, Moshe Ashkenazi, Gil Sokol, Adi Dagan and Ori Efrati
J. Clin. Med. 2025, 14(3), 907; https://doi.org/10.3390/jcm14030907 - 30 Jan 2025
Viewed by 1227
Abstract
Background: Airway clearance techniques are a key element in the daily treatment of people with bronchiectasis. There are several methods and devices to assist in effective airway clearance. We investigated LibAirty, a novel medical device, and compared it with the common practice [...] Read more.
Background: Airway clearance techniques are a key element in the daily treatment of people with bronchiectasis. There are several methods and devices to assist in effective airway clearance. We investigated LibAirty, a novel medical device, and compared it with the common practice performed today. Methods: Twenty adults enrolled, and each one had three different treatments in a randomized order: a human respiratory physiotherapist, a High-Frequency Chest Wall Oscillator, and LibAirty with BiPAP. The outcome parameters were mucus weight and a questionnaire. Further studies were performed to investigate LibAirty with hypertonic saline (HS) inhalation and using the device as a standalone. Results: No adverse events were recorded. The sputum amount expectorated in all arms using LibAirty was 14.4 ± 11.1 g with BIPAP, 16.4 ± 7 g with HS, and 11.3 ± 4.1 g for the standalone treatment. For HFCWO, 4.45 ± 3.28 g was obtained, and for CPT, 15.9 ± 11.1 g was obtained. The amount obtained by LibAirty (all arms) was significantly higher than HFCWO. Conclusions: All arms of LibAirty were superior to HFCWO and similar to the human physiotherapist. Further studies should be performed to investigate the long-term effects of LibAirty. Full article
(This article belongs to the Special Issue Cystic Fibrosis: Novel Strategies of Diagnosis and Treatments)
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18 pages, 693 KiB  
Review
A Global Perspective of GBA1-Related Parkinson’s Disease: A Narrative Review
by Christos Koros, Anastasia Bougea, Ioanna Alefanti, Athina Maria Simitsi, Nikolaos Papagiannakis, Ioanna Pachi, Evangelos Sfikas, Roubina Antonelou and Leonidas Stefanis
Genes 2024, 15(12), 1605; https://doi.org/10.3390/genes15121605 - 16 Dec 2024
Cited by 4 | Viewed by 2323
Abstract
Parkinson’s disease (PD) is considered to be the second most prominent neurodegenerative disease and has a global prevalence. Glucocerebrosidase (GBA1) gene mutations represent a significant hereditary risk factor for the development of PD and have a profound impact on the motor [...] Read more.
Parkinson’s disease (PD) is considered to be the second most prominent neurodegenerative disease and has a global prevalence. Glucocerebrosidase (GBA1) gene mutations represent a significant hereditary risk factor for the development of PD and have a profound impact on the motor and cognitive progression of the disease. The aim of this review is to summarize the literature data on the prevalence, type, and peculiarities of GBA1 mutations in populations of different ethnic backgrounds. We reviewed articles spanning the 2000–2024 period. GBA1-related PD has a worldwide distribution. It has long been recognized that pathogenic GBA1 mutations are particularly common in certain ethnic populations, including PD patients of Ashkenazi Jewish ancestry. Moreover, a considerable number of studies focused on European ancestry patients from Europe and North America have revealed a high proportion (up to 15%) of carriers among the PD population. GBA1 mutations also appear to play an important role in patient groups with an East Asian background, although the frequency of specific variants may differ as compared to those of European ancestry. Notably, the assessment of underrepresented populations in other parts of Asia (including India) and Latin America is in the spotlight of current research, while a variant with a newly described pathogenic mechanism has been reported in Sub-Saharan Africans. Given the importance of GBA1 mutations for PD genetics and clinical phenotype, a focused assessment of the prevalence and type of GBA1 variants in distinct ethnic populations will possibly inform ongoing PD-related clinical studies and facilitate upcoming therapeutic trials. Full article
(This article belongs to the Special Issue Genetics of Parkinson’s Disease Around the World)
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10 pages, 665 KiB  
Article
Pain-Associated Diagnoses in Childhood Before the Diagnosis of Attention-Deficit/Hyperactivity Disorder: A Population-Based Study
by Eugene Merzon, Eli Magen, Yaniv Levy, Shai Ashkenazi, Iris Manor, Abraham Weizman, Beth Krone, Stephen V. Faraone, Ilan Green, Avivit Golan-Cohen, Shlomo Vinker and Ariel Israel
Children 2024, 11(11), 1388; https://doi.org/10.3390/children11111388 - 15 Nov 2024
Viewed by 1610
Abstract
Background: Pediatric pain significantly affects children’s lives, leading to school absenteeism, impaired social interactions, and psychological distress. The perception of sensory signals as pain is influenced by the brain’s noradrenergic system, and recent evidence suggests that chronic pain may impact cognitive functioning and [...] Read more.
Background: Pediatric pain significantly affects children’s lives, leading to school absenteeism, impaired social interactions, and psychological distress. The perception of sensory signals as pain is influenced by the brain’s noradrenergic system, and recent evidence suggests that chronic pain may impact cognitive functioning and emotional regulation. Attention-Deficit/Hyperactivity Disorder (ADHD) is associated with alterations in the dopaminergic/noradrenergic systems, which could affect pain perception. Pain-associated conditions and frequent analgesic use in childhood may be linked to ADHD development and could serve as early indicators, yet data on this potential association remain limited. Study Aim: This population-based case-control study in Israel aimed to assess the prevalence of pain-related diagnoses prior to ADHD diagnosis in children aged 5 to 18. The study included children registered with Leumit Health Services (LHS) between 1 January 2006, and 30 June 2021. Children diagnosed with ADHD were compared to matched controls, selected based on age, gender, socioeconomic status, and other sociodemographic factors, who were never diagnosed with ADHD during the study period. Results: Children with ADHD (N = 18,756) and controls (N = 37,512) were precisely matched for sociodemographic characteristics. Individuals with ADHD exhibited significantly higher frequencies of diverse pain conditions, including those associated with illness [headache, earaches, and throat pain (odds ratios [OR] = 1.156 [95%CI 1.085, 1.232], 1.295 [95%CI 1.217, 1.377], and 1.080 [95%CI 1.019, 1.145], respectively; p < 0.01)] and injury [sprains and strains (OR = 1.233 [95% CI 1.104,1.376)]. Analgesics were more frequently purchased by individuals with ADHD, particularly paracetamol (OR = 1.194 [95%CI 1.152, 1.237], p < 0.001) and ibuprofen (OR = 1.366 [95%CI 1.318, 1.416], p = 0.001). Conclusions: This study highlights a potential connection between ADHD and pediatric pain. The elevated rates of pain diagnoses and analgesic usage among children with ADHD underscore the need for further research. Full article
(This article belongs to the Section Pediatric Neurology & Neurodevelopmental Disorders)
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