Journal Description
Clinics and Practice
Clinics and Practice
is an international, scientific, peer-reviewed, open access journal on clinical medicine, published bimonthly online by MDPI (from Volume 11, Issue 1 - 2021).
- Open Access— free for readers, with article processing charges (APC) paid by authors or their institutions.
- High Visibility: indexed within Scopus, ESCI (Web of Science), PubMed, PMC, Embase, and other databases.
- Journal Rank: CiteScore - Q2 (General Medicine)
- Rapid Publication: manuscripts are peer-reviewed and a first decision is provided to authors approximately 26.4 days after submission; acceptance to publication is undertaken in 3.8 days (median values for papers published in this journal in the second half of 2023).
- Recognition of Reviewers: APC discount vouchers, optional signed peer review, and reviewer names published annually in the journal.
Impact Factor:
2.3 (2022);
5-Year Impact Factor:
2.0 (2022)
Latest Articles
Case Report: The Rehabilitation of a Patient with Acute Transverse Myelitis after COVID-19 Vaccination
Clin. Pract. 2024, 14(3), 1076-1084; https://doi.org/10.3390/clinpract14030085 - 6 Jun 2024
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We report the case of a 55-year-old man with multi-symptomatic transverse myelitis after vaccination against coronavirus disease 2019 (COVID-19). The patient was diagnosed based on the course of the disease and the results of imaging and laboratory tests. We excluded other most probable
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We report the case of a 55-year-old man with multi-symptomatic transverse myelitis after vaccination against coronavirus disease 2019 (COVID-19). The patient was diagnosed based on the course of the disease and the results of imaging and laboratory tests. We excluded other most probable causes of the disease. The quick start of diagnosis allowed for early treatment with intravenous steroids and then plasmapheresis and the implementation of modern rehabilitation methods using biofeedback platforms, among others, and an exoskeleton. The patient returned to work, but the rehabilitation process continues to this day due to persistent symptoms that impair the patient’s quality of life.
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Open AccessArticle
Predictive Role of NLR, dNLR, PLR, NLPR, and Other Laboratory Markers in Diagnosing SIRS in Premature Newborns
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Manuela Pantea, Daniela Iacob, Claudia Ioana Bortea, Ileana Enatescu, Vlad Barbos, Mihaela Prodan, Raluca Tudor and Gabriel Veniamin Cozma
Clin. Pract. 2024, 14(3), 1065-1075; https://doi.org/10.3390/clinpract14030084 - 6 Jun 2024
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Background: Premature newborns are at a significant risk for Systemic Inflammatory Response Syndrome SIRS, a condition associated with high morbidity and mortality. This study aimed to evaluate the predictive and diagnostic capability of laboratory markers like Neutrophil to Lymphocyte Ratio (NLR), derived Neutrophil
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Background: Premature newborns are at a significant risk for Systemic Inflammatory Response Syndrome SIRS, a condition associated with high morbidity and mortality. This study aimed to evaluate the predictive and diagnostic capability of laboratory markers like Neutrophil to Lymphocyte Ratio (NLR), derived Neutrophil to Lymphocyte Ratio (dNLR), Platelet-to-Lymphocyte Ratio (PLR), and Neutrophil-to-Lymphocyte-to-Platelet Ratio (NLPR) in diagnosing SIRS in premature newborns. Methods: Premature newborns with and without SIRS were evaluated in a prospective design during a one-year period. Among 136 newborns, early and 72 h post-birth analyses were performed. Results: At 24 h, NLR’s cutoff value was 8.69, yielding sensitivity and specificity rates of 52.77% and 83.47% (p = 0.0429), respectively. The dNLR showed a cutoff of 5.61, with corresponding rates of 63.27% and 84.15% (p = 0.0011), PLR had a cutoff of 408.75, with rates of 51.89% and 80.22% (p = 0.1026), and NLPR displayed a cutoff of 0.24, with rates of 75.85% and 86.70% (p = 0.0002). At 72 h, notable sensitivity and specificity improvements were observed, particularly with NLPR having a cutoff of 0.17, showing sensitivity of 77.74% and specificity of 95.18% (p < 0.0001). NLR above the cutoff indicated a 33% increase in SIRS risk, with a hazard ratio (HR)of 1.33. The dNLR was associated with a twofold increase in risk (HR 2.04). NLPR demonstrated a significant, over threefold increase in SIRS risk (HR 3.56), underscoring its strong predictive and diagnostic value for SIRS development. Conclusion: Integrating these findings into clinical practice could enhance neonatal care by facilitating the early identification and management of SIRS, potentially improving outcomes for this vulnerable population.
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Open AccessReview
Safety of Progestogen Hormonal Contraceptive Methods during Lactation: An Overview
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Karolina Chmaj-Wierzchowska, Katarzyna Wszołek, Katarzyna Tomczyk and Maciej Wilczak
Clin. Pract. 2024, 14(3), 1054-1064; https://doi.org/10.3390/clinpract14030083 - 4 Jun 2024
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Background: Breastfeeding is a process for not only nourishing infants but also for building a unique emotional bond between mother and child. Therefore, the ideal contraception during lactation should not affect lactation (milk composition, milk volume) and offspring development. Objectives: This study aims
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Background: Breastfeeding is a process for not only nourishing infants but also for building a unique emotional bond between mother and child. Therefore, the ideal contraception during lactation should not affect lactation (milk composition, milk volume) and offspring development. Objectives: This study aims to analyze the literature on the safety of progestogen hormonal contraceptive methods during lactation. Methods: We conducted a thorough search across various databases, including the National Library of Medicine (PubMed), and the Cochrane Database, Drugs and Lactation Database (LactMed). Our search utilized specific phrases such as: “lactation” and “breastfeeding” and “oral contraception” with “drospirenone” or “desogestrel”, with “subcutaneous etonogestrel implant” or “etonogestrel implant”, with “levonorgestrel-releasing intrauterine system”, and “emergency contraception”, with “levonorgestrel” or “ulipristal acetate”. Conclusions: Based on published scientific reports, progestogen hormonal contraceptives can be considered a relatively safe solution for women desiring to continue feeding their infant with their milk while using hormonal contraception. It is important to seek guidance on selecting the best contraception method based on the latest medical knowledge, tailored to the individual needs and clinical circumstances of each woman and place of residence. A woman should always be informed of the potential risks of such a treatment and then allowed to make her own decision based on the knowledge received from a specialist.
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Open AccessArticle
Early Screening for Long QT Syndrome and Cardiac Anomalies in Infants: A Comprehensive Study
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Luana Nosetti, Marco Zaffanello, Carolina Lombardi, Alessandra Gerosa, Giorgio Piacentini, Michele Abramo and Massimo Agosti
Clin. Pract. 2024, 14(3), 1038-1053; https://doi.org/10.3390/clinpract14030082 - 31 May 2024
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(1) Background: Sudden Infant Death Syndrome (SIDS) represents sudden and unexplained deaths during the sleep of infants under one year of age, despite thorough investigation. Screening for a prolonged QTc interval, a marker for Long QT Syndrome (LQTS), should be conducted on all
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(1) Background: Sudden Infant Death Syndrome (SIDS) represents sudden and unexplained deaths during the sleep of infants under one year of age, despite thorough investigation. Screening for a prolonged QTc interval, a marker for Long QT Syndrome (LQTS), should be conducted on all newborns to reduce the incidence of SIDS. Neonatal electrocardiograms (ECGs) could identify congenital heart defects (CHDs) early, especially those not detected at birth. Infants with prolonged QTc intervals typically undergo genetic analysis for Long QT Syndrome. (2) Methods: The study involved infants aged 20–40 days, born with no apparent clinical signs of heart disease, with initial ECG screening. Infants with prenatal diagnoses or signs/symptoms of CHDs identified immediately after birth, as well as infants who had previously had an ECG or echocardiogram for other medical reasons, were excluded from the study. We used statistical software (SPSS version 22.0) to analyze the data. (3) Results: Of the 42,200 infants involved, 2245 were enrolled, with 39.9% being males. Following this initial screening, 164 children (37.8% males) with prolonged QTc intervals underwent further evaluation. Out of these 164 children, 27 children were confirmed to have LQTS. However, only 18 children were finally investigated for genetic mutations, and mutations were identified in 11 tests. The most common mutations were LQT1 (54.5%), LQT2 (36.4%), and LQT3 (1 patient). Treatment options included propranolol (39.8%), nadolol (22.2%), inderal (11.1%), metoprolol (11.1%), and no treatment (16.7%). The most common abnormalities were focal right bundle branch block (54.5%), left axis deviation (9.2%), and nonspecific ventricular repolarization abnormalities (7.1%). Multiple anomalies were found in 0.47% of children with focal right bundle branch block. Structural abnormalities were associated with specific features in 267 patients (11.9%), primarily isolated patent foramen ovale (PFO) at 61.4%. (4) Conclusions: This screening approach has demonstrated effectiveness in the early identification of LQTS and other cardiac rhythm anomalies, with additional identification of mutations and/or prolonged QTc intervals in family members. Identifying other ECG abnormalities and congenital heart malformations further enhances the benefits of the screening.
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Open AccessReview
The Effect of Isotretinoin on Insulin Resistance and Serum Adiponectin Levels in Acne Vulgaris Patients: A Systematic Review and Meta-Analysis
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Eleni Paschalidou, Georgios Katsaras, Thomas Papoulakis, Evangelia Kalloniati, Dimitrios Kavvadas, Sofia Karachrysafi, Dorothea Kapoukranidou, Georgios Tagarakis and Theodora Papamitsou
Clin. Pract. 2024, 14(3), 1021-1037; https://doi.org/10.3390/clinpract14030081 - 31 May 2024
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Background: Isotretinoin is the drug of choice for severe acne. We sought to examine the potential link between isotretinoin and insulin resistance. Methods: We conducted a systematic review and meta-analysis in accordance with the PRISMA statement. A comprehensive search of the PubMed/MEDLINE, SCOPUS,
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Background: Isotretinoin is the drug of choice for severe acne. We sought to examine the potential link between isotretinoin and insulin resistance. Methods: We conducted a systematic review and meta-analysis in accordance with the PRISMA statement. A comprehensive search of the PubMed/MEDLINE, SCOPUS, and Cochrane databases was performed until 12 January 2022 utilizing the PICO (Patient, Intervention, Comparison, Outcome) tool. Fifteen English-language studies focusing on isotretinoin-treated acne patients were included. Serum levels of insulin, glucose, and adiponectin were evaluated before and after treatment, and insulin sensitivity was assessed using the HOMA–IR. A meta-analysis was conducted using RevMan 5.4.1 software, and a quality assessment was undertaken using the ROBINS-I tool. Results: The meta-analysis unveiled a statistically significant rise in the post-treatment levels of adiponectin, an anti-inflammatory agent, which inhibits liver glucose production while enhancing insulin sensitivity (SMD = 0.86; 95% confidence interval (95% CI) = 0.48–1.25, p-value < 0.0001; I2 = 58%). Our subgroup analysis based on study type yielded consistent findings. However, no statistically significant outcomes were observed for insulin, glucose levels, and the HOMA-IR. Conclusions: There is not a clear association between isotretinoin and insulin resistance, but it appears to enhance the serum levels of adiponectin, which participates in glucose metabolism.
Full article
(This article belongs to the Special Issue 2024 Feature Papers in Clinics and Practice)
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Open AccessReview
Drugs Associated with Adverse Effects in Vulnerable Groups of Patients
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Claudia Simona Ștefan, Aurel Nechita, Oana-Maria Dragostin, Ana Fulga, Elena-Lăcrămioara Lisă, Rodica Vatcu, Ionut Dragostin, Cristian Velicescu and Iuliu Fulga
Clin. Pract. 2024, 14(3), 1010-1020; https://doi.org/10.3390/clinpract14030080 - 31 May 2024
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In recent years, a series of recommendations have been issued regarding the administration of drugs because of awareness of the serious side effects associated with certain classes of drugs, especially in vulnerable patients. Taking into account the obligation of the continuous improvement of
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In recent years, a series of recommendations have been issued regarding the administration of drugs because of awareness of the serious side effects associated with certain classes of drugs, especially in vulnerable patients. Taking into account the obligation of the continuous improvement of professionals in the medical fields and the fact that we are in the midst of a “malpractice accusations pandemic”, through this work, we propose to carry out a “radiography” of the scientific literature regarding adverse effects that may occur as a result of the interaction of drugs with the physiopathological particularities of patients. The literature reports various cases regarding different classes of drugs administration associated with adverse effects in the elderly people, such as fluoroquinolones, which can cause torsade de pointes or tendinopathy, or diuretics, which can cause hypokalemia followed by torsade de pointes and cardiorespiratory arrest. Also, children are more prone to the development of adverse reactions due to their physiological particularities, while for pregnant women, some drugs can interfere with the normal development of the fetus, and for psychiatric patients, the use of neuroleptics can cause agranulocytosis. Considering the physiopathological particularities of each patient, the drug doses must be adjusted or even completely removed from the treatment scheme, thus requiring the mandatory active participation both of clinician pharmacists and specialists in the activity of medical-pharmaceutical analysis laboratories within the structure of hospitals.
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Open AccessArticle
Influence of Healthcare Delivery Type on Patients’ Mental Health: Is Hospitalization Always a Stressful Factor? Can Allostatic Load Help Assess a Patient’s Psychological Disorders?
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Ana María Gómez García and Eduardo García-Rico
Clin. Pract. 2024, 14(3), 995-1009; https://doi.org/10.3390/clinpract14030079 - 30 May 2024
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Background: Psychological distress is a predictor of future health and disease data, with consequent implications for both the patient and the healthcare system. Taking advantage of the unprecedented situation caused by the COVID-19 pandemic we aimed to assess whether the type of medical
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Background: Psychological distress is a predictor of future health and disease data, with consequent implications for both the patient and the healthcare system. Taking advantage of the unprecedented situation caused by the COVID-19 pandemic we aimed to assess whether the type of medical care received by patients during the initial months of the pandemic influenced their evolution, particularly at the psychological level. Additionally, we investigated whether allostatic load was associated not only with physical but also psychological alterations. Methods: All the patients diagnosed with COVID-19 infection at HM Madrid Hospital during the month of March 2020 were studied, both those hospitalized (110) and those treated on an outpatient basis (46). They were psychologically evaluated using the Profile of Mood States (POMS) test. We calculated the allostatic load using different laboratory parameters. Results: Outpatient patients had significantly higher scores than hospitalized ones in Tension-Anxiety (52 ± 19.3 vs. 38 ± 4.3; p < 0.001). So, 36.9% of the outpatient patients exhibited anxiety. Allostatic load has not been correlated with patients’ psychological alterations. Conclusions: Psychological distress of outpatient patients should be taken into account in their management to improve mental health planning. This knowledge could provide comprehensive care to patients including their mental health, in the face of subsequent epidemics/pandemics.
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Open AccessArticle
Lactate Profile Assessment—A Good Predictor of Prognosis in Patients with COVID-19 and Septic Shock Requiring Continuous Renal Therapy
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Cosmin Iosif Trebuian, Adina Maria Marza, Raul Chioibaş, Dumitru Şutoi, Alina Petrica, Iulia Crintea-Najette, Daian Popa, Florin Borcan, Daniela Flondor and Ovidiu Alexandru Mederle
Clin. Pract. 2024, 14(3), 980-994; https://doi.org/10.3390/clinpract14030078 - 27 May 2024
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Introduction: Lactate is a useful prognostic marker, as its level increases in hypoxic tissue and/or during accelerated aerobic glycolysis due to excessive beta-adrenergic stimulation and decreased lactate clearance. The Surviving Sepsis Campaign Bundle 2018 Update suggests premeasurement of lactate within 2–4 h so
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Introduction: Lactate is a useful prognostic marker, as its level increases in hypoxic tissue and/or during accelerated aerobic glycolysis due to excessive beta-adrenergic stimulation and decreased lactate clearance. The Surviving Sepsis Campaign Bundle 2018 Update suggests premeasurement of lactate within 2–4 h so that physicians perform, assist, administer, and introduce lactate-guided resuscitation to reduce mortality due to sepsis. Methods: A total of 108 patients with septic shock who underwent continuous renal replacement therapy (CRRT) for acute kidney injury were enrolled in this observational study. Demographic, clinical, and laboratory data were collected, and patients were divided into two groups: survivors and non-survivors. Results: Multivariate analysis demonstrated that lactate levels at 24 h after initiation of CRRT treatment, but not lactate levels at intensive care unit (ICU) admission, were associated with mortality. Lactate clearance was associated with lower mortality among the survivors (OR = 0.140) at 6 h after ICU admission and late mortality (OR = 0.260) after 24 h. The area under the ROC curves for mortality was 0.682 for initial lactate; 0.797 for lactate at 24 h; and 0.816 for lactate clearance at 24 h. Conclusions: Our result reinforces that the determination of lactate dynamics represents a good predictor for mortality, and serial lactate measurements may be more useful prognostic markers than initial lactate in patients with septic shock.
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Open AccessArticle
Clinical and Pathological Features of Osteosarcomas of the Jaws: A Retrospective Study
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Jesus Rodriguez-Molinero, Jose Juan Pozo-Kreilinger, Juan Antonio Ruiz-Roca, Antonio Francisco Lopez-Sanchez and Jose Luis Cebrian-Carretero
Clin. Pract. 2024, 14(3), 965-979; https://doi.org/10.3390/clinpract14030077 - 23 May 2024
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Introduction: Osteosarcomas of the jaw (OSJs) are rare tumors with distinct characteristics from osteosarcomas affecting other bones. This study aims to analyze the clinical, pathological, and therapeutic characteristics of OSJs. Methods: A retrospective, descriptive cross-sectional study including patients diagnosed with OSJ registered at
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Introduction: Osteosarcomas of the jaw (OSJs) are rare tumors with distinct characteristics from osteosarcomas affecting other bones. This study aims to analyze the clinical, pathological, and therapeutic characteristics of OSJs. Methods: A retrospective, descriptive cross-sectional study including patients diagnosed with OSJ registered at the “La Paz” University Hospital, Madrid, was performed. Results: Data of eight patients with a diagnosis of OSJ were obtained during the study period of 22 years (2002–2024). The mean age of the patients was 41 years. The distribution was 1:1 between the maxilla and mandible. Painful inflammation was the most frequent clinical manifestation. Conventional osteoblastic osteosarcoma was the most predominant histological type. Survival rate at 5 years was 50%, which decreased to 25% at 10 years. Conclusions: OSJs differ from conventional osteosarcomas of long tubular bones. Surgery continues to be the mainstay of treatment. However, more studies are needed through which more standardized protocols can be proposed for adjuvant therapeutic management.
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Open AccessArticle
Efficacy of Non-Surgical Periodontal Therapy with Adjunctive Methylene Blue and Toluidine Blue O Mediated Photodynamic in Treatment of Periodontitis: A Randomized Clinical Trial
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Kashan Kamal Najm, Sarhang Sarwat Gul and Ali Abbas Abdulkareem
Clin. Pract. 2024, 14(3), 954-964; https://doi.org/10.3390/clinpract14030076 - 22 May 2024
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Background: This study aimed to examine the efficacy of methylene blue (MB) and toluidine blue O (TBO) photodynamic therapy (PDT) as adjuncts to root surface debridement (RSD). Methods: This split-mouth, randomized, controlled clinical trial included eighteen patients, and a total of 332 sites
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Background: This study aimed to examine the efficacy of methylene blue (MB) and toluidine blue O (TBO) photodynamic therapy (PDT) as adjuncts to root surface debridement (RSD). Methods: This split-mouth, randomized, controlled clinical trial included eighteen patients, and a total of 332 sites (control = 102, MB = 124 and TBO = 106) were examined. Two sessions of PDT were completed at baseline and two weeks after RSD. Clinical parameters of bleeding on probing (BOP), plaque index (PI), probing pocket depth (PPD), and clinical attachment level (CAL) were measured pre- and post-treatment. Results: PPD and BOP reductions in sites treated by RSD with adjunctive photosensitizers (MB and TBO) were significantly higher than in control sites. RSD with MB showed higher efficacy in improving moderately deep pockets (OR 3.350), while adjunctive TBO showed better results in treating deeper pockets (OR 4.643). Conclusions: Results suggested that adjunctive use of MB and TBO to RSD could significantly improve periodontal pocket closure and reduce signs of inflammation. In addition, TBO seems to be more efficient in treating deep periodontal pockets than MB, which is more effective in resolving shallower pockets.
Full article
(This article belongs to the Special Issue New Trends, Materials, and Technologies and Consolidating Best Practices in Dentistry)
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Open AccessCase Report
Zero-Fluoroscopy Catheter Ablation of Right Appendage Focal Atrial Tachycardia in a Pregnant Woman
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Federica Troisi, Noemi Valenti, Federico Quadrini, Nicola Vitulano, Antonio Di Monaco, Imma Romanazzi, Rosa Caruso, Rocco Orfino and Massimo Grimaldi
Clin. Pract. 2024, 14(3), 946-953; https://doi.org/10.3390/clinpract14030075 - 21 May 2024
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Background: Arrhythmias in pregnancy are complex to manage due to the teratogenic effects of many antiarrhythmic drugs and the common use of ionizing radiation during catheter ablation procedures. Furthermore, pregnant women are extremely vulnerable and difficult to treat because of the progressive physical
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Background: Arrhythmias in pregnancy are complex to manage due to the teratogenic effects of many antiarrhythmic drugs and the common use of ionizing radiation during catheter ablation procedures. Furthermore, pregnant women are extremely vulnerable and difficult to treat because of the progressive physical and hormonal changes that occur during the nine months of pregnancy. Case Presentation: In this case report, we describe a complex clinical case of a 34-year-old pregnant woman who was affected by an incessant right atrial tachycardia, with signs and symptoms of initial hemodynamic instability. This tachycardia was refractory to antiarrhythmic drugs, so a zero-fluoroscopy ablation was performed. The first procedure was complicated by cardiac tamponade, quickly resolved without further complications for the mother or the fetus. In the following days, a deep venous thrombosis occurred at the femoral venous access. After a few days, the patient underwent a second procedure that was successful and resulted in the restoration of a sinus rhythm. Conclusions: The management of this clinical case was complex both from a procedural and a clinical (cardiological and gynecological) point of view. Finally, the integration of the various skills led to an excellent result.
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Open AccessArticle
Emotional Dysregulation and Sleep Problems: A Transdiagnostic Approach in Youth
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Gianluca Sesso, Fulvio Guccione, Simone Pisano, Elena Valente, Antonio Narzisi, Stefano Berloffa, Pamela Fantozzi, Valentina Viglione, Annarita Milone and Gabriele Masi
Clin. Pract. 2024, 14(3), 934-945; https://doi.org/10.3390/clinpract14030074 - 21 May 2024
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Background: Sleep is a complex phenomenon that affects several aspects of life, including cognitive functioning, emotional regulation, and overall well-being. Sleep disturbances, especially during adolescence, can negatively impact emotional regulation, making it a critical factor in targeting psychopathology. Methods: This study explores the
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Background: Sleep is a complex phenomenon that affects several aspects of life, including cognitive functioning, emotional regulation, and overall well-being. Sleep disturbances, especially during adolescence, can negatively impact emotional regulation, making it a critical factor in targeting psychopathology. Methods: This study explores the interplay between emotional dysregulation (ED) and sleep patterns in a sample of 90 adolescent patients by means of self- and parent-rated clinical measures. Results: Our findings reveal a bidirectional relationship between ED and sleep problems. Adolescents with higher affective instability experience poorer sleep quality, while those with worse sleep quality exhibit higher internalizing problems. Additionally, emotional reactivity is associated with disrupted circadian rhythms. Conclusions: These results emphasize the significance of addressing sleep problems in the context of psychopathology treatment, potentially leading to improved outcomes. Further research is needed to determine the most effective treatment strategies, including nonpharmacological and pharmacological interventions. Understanding the intricate relationship between sleep problems and emotion regulation offers insights for more targeted and effective treatment approaches for youths struggling with ED.
Full article
(This article belongs to the Special Issue Pediatric and Adolescent Psychiatry and Psychology: Current Treatments and Future Options)
Open AccessCase Report
Clinical Case of Mild Tatton–Brown–Rahman Syndrome Caused by a Nonsense Variant in DNMT3A Gene
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Fatima Bostanova, Olga Levchenko, Margarita Sharova and Natalia Semenova
Clin. Pract. 2024, 14(3), 928-933; https://doi.org/10.3390/clinpract14030073 - 21 May 2024
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Tatton–Brown–Rahman syndrome is a rare autosomal dominant hereditary disease caused by pathogenic variants in the DNMT3A gene, which is an important participant in epigenetic regulation, especially during embryonic development, and is highly expressed in all tissues. The main features of the syndrome are
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Tatton–Brown–Rahman syndrome is a rare autosomal dominant hereditary disease caused by pathogenic variants in the DNMT3A gene, which is an important participant in epigenetic regulation, especially during embryonic development, and is highly expressed in all tissues. The main features of the syndrome are high growth, macrocephaly, intellectual disability, and facial dysmorphic features. We present a clinical case of Tatton–Brown–Rahman syndrome in a ten-year-old boy with macrocephaly with learning difficulties, progressive eye impairment, and fatigue suspected by a deep learning-based diagnosis assistance system, Face2Gene. The proband underwent whole-exome sequencing, which revealed a recurrent nonsense variant in the 12th exon of the DNMT3A, leading to the formation of a premature stop codon—NM_022552.5:c.1443C>A (p.Tyr481Ter), in a heterozygous state. This variant was not found in parents, confirming its de novo status. The patient case described here contributes to the understanding of the clinical diversity of Tatton–Brown–Raman syndrome with a mild clinical presentation that expands the phenotypic spectrum of the syndrome. We report the first recurrent nonsense variant in the DNMT3A gene, suggesting a mutational hot-spot. Differential diagnoses of this syndrome with Sotos syndrome, Weaver syndrome, and Cowden syndrome, as well as molecular confirmation, are extremely important, since the presence of certain types of pathogenic variants in the DNMT3A gene significantly increases the risk of developing acute myeloid leukemia.
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(This article belongs to the Special Issue Clinical Practice of Artificial Intelligence in Diagnostic and Treatment Assistance)
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Open AccessArticle
Global Trends in Kidney Stone Awareness: A Time Series Analysis from 2004–2023
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Noppawit Aiumtrakul, Charat Thongprayoon, Supawadee Suppadungsuk, Pajaree Krisanapan, Preyarat Pinthusopon, Michael A. Mao, Chinnawat Arayangkool, Kristine B. Vo, Chalothorn Wannaphut, Jing Miao and Wisit Cheungpasitporn
Clin. Pract. 2024, 14(3), 915-927; https://doi.org/10.3390/clinpract14030072 - 20 May 2024
Abstract
Background: Despite the prevalence and incidence of kidney stones progressively increasing worldwide, public awareness of this condition remains unclear. Understanding trends of awareness can assist healthcare professionals and policymakers in planning and implementing targeted health interventions. This study investigated online search interest in
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Background: Despite the prevalence and incidence of kidney stones progressively increasing worldwide, public awareness of this condition remains unclear. Understanding trends of awareness can assist healthcare professionals and policymakers in planning and implementing targeted health interventions. This study investigated online search interest in “kidney stone” by analyzing Google Trends, focusing on stationarity of the trends and predicting future trends. Methods: We performed time series analysis on worldwide Google monthly search data from January 2004 to November 2023. The Augmented Dickey–Fuller (ADF) test was used to assess the stationarity of the data, with a p-value below 0.05 indicating stationarity. Time series forecasting was performed using the autoregressive integrated moving average to predict future trends. Results: The highest search interest for “kidney stone” (score 100) was in August 2022, while the lowest was in December 2007 (score 36). As of November 2023, search interest remained high, at 92. The ADF test was significant (p = 0.023), confirming data stationarity. The time series forecasting projected continued high public interest, likely reflecting ongoing concern and awareness. Notably, diverse regions such as Iran, the Philippines, Ecuador, the United States, and Nepal showed significant interest, suggesting widespread awareness of nephrolithiasis. Conclusion: This study highlighted that “kidney stone” is a consistently relevant health issue globally. The increase and stationarity of search trends, the forecasted sustained interest, and diverse regional interest emphasize the need for collaborative research and educational initiatives. This study’s analysis serves as a valuable tool for shaping future healthcare policies and research directions in addressing nephrolithiasis related health challenges.
Full article
(This article belongs to the Special Issue 2024 Feature Papers in Clinics and Practice)
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Open AccessReview
Major Perioperative Cardiac Risk Assessment: A Review for Cardio-Oncologists and Perioperative Physicians
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Emily P. Johnson, Robert Monsour, Osama Hafez, Rohini Kotha and Robert S. Ackerman
Clin. Pract. 2024, 14(3), 906-914; https://doi.org/10.3390/clinpract14030071 - 17 May 2024
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The Revised Cardiac Risk Index (RCRI) and the American College of Surgeons (ACS) National Surgical Quality Improvement Program (NSQIP) preoperative risk assessment tools are the most widely used methods for quantifying the risk of major negative perioperative cardiac outcomes that a patient may
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The Revised Cardiac Risk Index (RCRI) and the American College of Surgeons (ACS) National Surgical Quality Improvement Program (NSQIP) preoperative risk assessment tools are the most widely used methods for quantifying the risk of major negative perioperative cardiac outcomes that a patient may face during and after noncardiac surgery. However, these tools were created to include as wide a range of surgical factors as possible; thus, some predictive accuracy is sacrificed when it comes to certain surgical subpopulations. In this review, we explore the various surgical oncology patient populations for whom these assessment tools can be reliably applied and for whom they demonstrate poor reliability.
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Open AccessArticle
Pre-Infection Nutritional Status, Oxidative Stress, and One-Year-Long COVID Persistence in Patients Undergoing Hemodialysis: A Prospective Cohort Study
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Natalia Stepanova, Lesya Korol, Tetyana Ostapenko, Valeriia Marchenko, Olga Belousova, Lyudmyla Snisar, Iryna Shifris and Mykola Kolesnyk
Clin. Pract. 2024, 14(3), 892-905; https://doi.org/10.3390/clinpract14030070 - 17 May 2024
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Background: Nutritional status’s role in long COVID is evident in the general population, yet unexplored in patients undergoing hemodialysis (HD), posing a research gap. We hypothesized that pre-infection undernutrition in HD patients might impact long COVID persistence by accelerating oxidative stress. The present
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Background: Nutritional status’s role in long COVID is evident in the general population, yet unexplored in patients undergoing hemodialysis (HD), posing a research gap. We hypothesized that pre-infection undernutrition in HD patients might impact long COVID persistence by accelerating oxidative stress. The present study aimed to investigate the association between pre-infection nutritional status, oxidative stress, and one-year-long COVID persistence in HD patients. Methods: This prospective observational cohort study enrolled 115 HD patients with confirmed COVID-19. Nutritional status was assessed using the Controlling Nutritional Status (CONUT) score twice: before infection and three months post-infection. Oxidative markers included malondialdehyde (MDAs), ceruloplasmin, transferrin, and sulfhydryl groups. The endpoint was one-year-long COVID persistence. Results: Moderate pre-infection CONUT scores were associated with heightened severe undernutrition risk (p < 0.0001), elevated MDAs (p < 0.0001), and reduced ceruloplasmin levels (p = 0.0009) at three months post-COVID-19 compared to light CONUT scores. Pre-infection CONUT score independently predicted post-COVID oxidative damage [OR 2.3 (95% CI 1.2; 4.6), p < 0.0001] and one-year-long COVID persistence [HR 4.6 (95% CI 1.4; 9.9), p < 0.0001], even after adjusting for potential confounders. Conclusion: Moderate pre-infection undernutrition heightens post-COVID oxidative stress and increases the risk of one-year-long COVID persistence in HD patients.
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(This article belongs to the Topic Multifaceted Efforts from Basic Research to Clinical Practice in Controlling COVID-19 Disease)
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Open AccessCase Report
Safety and Efficacy of Very Early Conversion to Belatacept in Pediatric Kidney Transplantation with Transplant-Associated Thrombotic Microangiopathy: Case Study and Review of Literature
by
Ratna Acharya, William Clapp and Kiran Upadhyay
Clin. Pract. 2024, 14(3), 882-891; https://doi.org/10.3390/clinpract14030069 - 16 May 2024
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The inhibition of co-stimulation during T-cell activation has been shown to provide effective immunosuppression in kidney transplantation (KT). Hence, the conversion from calcineurin inhibitor (CNI) to belatacept is emerging as a potential alternate maintenance immunosuppressive therapy in those with transplant-associated thrombotic microangiopathy (TA-TMA)
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The inhibition of co-stimulation during T-cell activation has been shown to provide effective immunosuppression in kidney transplantation (KT). Hence, the conversion from calcineurin inhibitor (CNI) to belatacept is emerging as a potential alternate maintenance immunosuppressive therapy in those with transplant-associated thrombotic microangiopathy (TA-TMA) or in the prevention of TA-TMA. We present a 17-year-old male who presented with biopsy-proven CNI-associated TA-TMA immediately post-KT. The administration of eculizumab led to the reversal of TMA. Tacrolimus was converted to belatacept with excellent efficacy and safety during a short-term follow-up of one year. Further larger controlled studies are required to demonstrate the efficacy of this approach in children who present with early-onset TMA post-KT.
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Open AccessReview
Infective Pleural Effusions—A Comprehensive Narrative Review Article
by
Mohammad Abdulelah and Mohammad Abu Hishmeh
Clin. Pract. 2024, 14(3), 870-881; https://doi.org/10.3390/clinpract14030068 - 16 May 2024
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Infective pleural effusions are mainly represented by parapneumonic effusions and empyema. These conditions are a spectrum of pleural diseases that are commonly encountered and carry significant mortality and morbidity rates reaching upwards of 50%. The causative etiology is usually an underlying bacterial pneumonia
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Infective pleural effusions are mainly represented by parapneumonic effusions and empyema. These conditions are a spectrum of pleural diseases that are commonly encountered and carry significant mortality and morbidity rates reaching upwards of 50%. The causative etiology is usually an underlying bacterial pneumonia with the subsequent seeding of the infectious culprit and inflammatory agents to the pleural space leading to an inflammatory response and fibrin deposition. Radiographical evaluation through a CT scan or ultrasound yields high specificity and sensitivity, with features such as septations or pleural thickening indicating worse outcomes. Although microbiological yields from pleural studies are around 56% only, fluid analysis assists in both diagnosis and prognosis by evaluating pH, glucose, and other biomarkers such as lactate dehydrogenase. Management centers around antibiotic therapy for 2–6 weeks and the drainage of the infected pleural space when the effusion is complicated through tube thoracostomies or surgical intervention. Intrapleural enzymatic therapy, used to increase drainage, significantly decreases treatment failure rates, length of hospital stay, and surgical referrals but carries a risk of pleural hemorrhage. This comprehensive review article aims to define and delineate the progression of parapneumonic effusions and empyema as well as discuss pathophysiology, diagnostic, and treatment modalities with aims of broadening the generalist’s understanding of such complex disease by reviewing the most recent and relevant high-quality evidence.
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Open AccessOpinion
Teaching Medical Procedural Skills for Performance
by
Kersi Taraporewalla, Paul Barach and André van Zundert
Clin. Pract. 2024, 14(3), 862-869; https://doi.org/10.3390/clinpract14030067 - 16 May 2024
Abstract
Procedures are a core element of medical professional practice. Today’s training approach was formulated in the mid-twentieth century based on a computer analogue of the brain. Despite minor modifications, the system has remained relatively unchanged for the past 70 years. It delivers competence.
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Procedures are a core element of medical professional practice. Today’s training approach was formulated in the mid-twentieth century based on a computer analogue of the brain. Despite minor modifications, the system has remained relatively unchanged for the past 70 years. It delivers competence. However, competence is not reliable performance. The inability to adapt to the variety of patients and variations in the performance environments, such as the operating room, results in patient morbidity and mortality. There is a need for changes in the development and training of medical procedural skills based on current theories of skill acquisition, movement theory, and motor control. Achieving optimal performance necessitates the ability to adapt through training in diverse patient and performance environments rather than merely imitating prescribed movements. We propose a novel model of training, the Constraints-Led Approach, which allows for robust training by altering the factors affecting skill acquisition and lifelong learning.
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Open AccessSystematic Review
Alterations in the Gut Microbiome Composition of People Living with HIV in the Asia–Pacific Region: A Systematic Review
by
Paul Benedic U. Salvador, Patrick Josemaria d. R. Altavas, Mark Angelo S. del Rosario, Eric David B. Ornos and Leslie Michelle M. Dalmacio
Clin. Pract. 2024, 14(3), 846-861; https://doi.org/10.3390/clinpract14030066 - 15 May 2024
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Human immunodeficiency virus (HIV) infection continues to present a global health issue. Recent studies have explored the potential role of the gut microbiome in HIV infection for novel therapeutic approaches. We investigated the gut microbiome composition of people living with HIV (PLHIV) in
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Human immunodeficiency virus (HIV) infection continues to present a global health issue. Recent studies have explored the potential role of the gut microbiome in HIV infection for novel therapeutic approaches. We investigated the gut microbiome composition of people living with HIV (PLHIV) in the Asia–Pacific region. This review was conducted following the Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) guidelines. An electronic search was conducted in the PubMed/MEDLINE, Scopus, and ScienceDirect databases using keywords such as “HIV”, “PLHIV”, “AIDS”, “gut microbiome”, “gut dysbiosis”, and “metagenomics”. Only peer-reviewed and full-text studies published in English were included. A total of 15 studies from the Asia–Pacific region were included for analysis. Compared to healthy controls, PLHIV showed an increased abundance of Proteobacteria and its genera, which may be considered pathobionts, and decreased abundances of Bacteroidetes and several genera under Firmicutes with known short-chain fatty acid and immunoregulatory activities. Predominant taxa such as Ruminococcaceae and Prevotellaceae were also associated with clinical factors such as CD4 count, the CD4/CD8 ratio, and inflammatory cytokines. This review highlights gut microbiome changes among PLHIV in the Asia–Pacific region, indicating potential bacterial signatures for prognostication. The partial restoration of the microbiome toward beneficial taxa may ensure the long-term success of treatment, promoting immune recovery while maintaining viral load suppression.
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