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Article
Transvenous Lead Extraction during Cardiac Implantable Device Upgrade: Results from the Multicenter Swiss Lead Extraction Registry
J. Clin. Med. 2023, 12(16), 5175; https://doi.org/10.3390/jcm12165175 - 08 Aug 2023
Viewed by 77
Abstract
Background: Device patients may require upgrade interventions from simpler to more complex cardiac implantable electronic devices. Prior to upgrading interventions, clinicians need to balance the risks and benefits of transvenous lead extraction (TLE), additional lead implantation or lead abandonment. However, evidence on procedural [...] Read more.
Background: Device patients may require upgrade interventions from simpler to more complex cardiac implantable electronic devices. Prior to upgrading interventions, clinicians need to balance the risks and benefits of transvenous lead extraction (TLE), additional lead implantation or lead abandonment. However, evidence on procedural outcomes of TLE at the time of device upgrade is scarce. Methods: This is a post hoc analysis of the investigator-initiated multicenter Swiss TLE registry. The objectives were to assess patient and procedural factors influencing TLE outcomes at the time of device upgrades. Results: 941 patients were included, whereof 83 (8.8%) had TLE due to a device upgrade. Rotational mechanical sheaths were more often used in upgraded patients (59% vs. 42.7%, p = 0.015) and total median procedure time was longer in these patients (160 min vs. 105 min, p < 0.001). Clinical success rates of upgraded patients compared to those who received TLE due to other reasons were not different (97.6% vs. 93.0%, p = 0.569). Moreover, multivariable analysis showed that upgrade procedures were not associated with a greater risk for complications (HR 0.48, 95% confidence interval 0.14–1.57, p = 0.224; intraprocedural complication rate of upgraded patients 7.2% vs. 5.5%). Intraprocedural complications of upgraded patients were mostly associated with the implantation and not the extraction procedure (67% vs. 33% of complications). Conclusions: TLE during device upgrade is effective and does not attribute a disproportionate risk to the upgrade procedure. Full article
(This article belongs to the Special Issue Advances in Cardiac Pacing and Cardiac Resynchronization Therapy)
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Brief Report
A Hypothetical New Challenging Use for Indocyanine Green Fluorescence during Laparoscopic Appendectomy: A Mini-Series of Our Experience and Literary Review
J. Clin. Med. 2023, 12(16), 5173; https://doi.org/10.3390/jcm12165173 - 08 Aug 2023
Viewed by 96
Abstract
Laparoscopic appendectomy (LA) is a well-standardized surgical procedure, but there are still controversies about the different devices to be used for the appendiceal stump closure and the related postoperative complications. Indocyanine green (ICG) fluorescence angiography (FA) has already been shown to be helpful [...] Read more.
Laparoscopic appendectomy (LA) is a well-standardized surgical procedure, but there are still controversies about the different devices to be used for the appendiceal stump closure and the related postoperative complications. Indocyanine green (ICG) fluorescence angiography (FA) has already been shown to be helpful in elective and emergency surgery, providing intraoperative information on tissue and organ perfusion, thus guiding the surgical decisions and the technical strategies. According to these two aspects, we report a mini-series of the first five patients affected by gangrenous and flegmonous acute appendicitis intraoperatively evaluated with ICG-FA during LA. The patients were admitted to the Emergency Department with an usual range of symptoms for acute appendicitis. The patients were successfully managed by fully LA with the help of a new hypothetical challenging use of ICG-FA. Full article
(This article belongs to the Section General Surgery)
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Article
When Eating Intuitively Is Not Always a Positive Response: Using Machine Learning to Better Unravel Eaters Profiles
J. Clin. Med. 2023, 12(16), 5172; https://doi.org/10.3390/jcm12165172 - 08 Aug 2023
Viewed by 124
Abstract
Background: The aim of the present study was to identify eaters profiles using the latest advantages of Machine Learning approach to cluster analysis. Methods: A total of 317 participants completed an online-based survey including self-reported measures of body image dissatisfaction, bulimia, restraint, and [...] Read more.
Background: The aim of the present study was to identify eaters profiles using the latest advantages of Machine Learning approach to cluster analysis. Methods: A total of 317 participants completed an online-based survey including self-reported measures of body image dissatisfaction, bulimia, restraint, and intuitive eating. Analyses were conducted in two steps: (a) identifying an optimal number of clusters, and (b) validating the clustering model of eaters profile using a procedure inspired by the Causal Reasoning approach. Results: This study reveals a 7-cluster model of eaters profiles. The characteristics, needs, and strengths of each eater profile are discussed along with the presentation of a continuum of eaters profiles. Conclusions: This conceptualization of eaters profiles could guide the direction of health education and treatment interventions targeting perceptual and eating dimensions. Full article
(This article belongs to the Section Mental Health)
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Article
Position of the ISTENT Inject® Trabecular Micro-Bypass System Visualized with the NIDEK GS-1 Gonioscope—A Postoperative Analysis
J. Clin. Med. 2023, 12(16), 5171; https://doi.org/10.3390/jcm12165171 - 08 Aug 2023
Viewed by 89
Abstract
Glaucoma is one of the leading causes of irreversible blindness globally and is characterized by the gradual loss of retinal ganglion cells. The primary risk factor for the development and progression of glaucoma is increased intraocular pressure (IOP). Numerous surgical interventions exist to [...] Read more.
Glaucoma is one of the leading causes of irreversible blindness globally and is characterized by the gradual loss of retinal ganglion cells. The primary risk factor for the development and progression of glaucoma is increased intraocular pressure (IOP). Numerous surgical interventions exist to lower IOP should conservative therapy fail. One trend in recent years has been minimally invasive glaucoma surgery (MIGS) as an alternative to traditional methods. The ISTENT inject® is an ab interno trabecular micro-bypass implant designed to be implanted through the trabecular meshwork into the Schlemm’s canal to lower IOP. The aim of the study was the postoperative visualization and description of the positioning of the ISTENT inject® using automated circumferential goniophotography. Patients with symptomatic cataracts and mild to moderate primary open-angle glaucoma (POAG), pseudoexfoliation glaucoma (PEX), and pigment-dispersion glaucoma were included who underwent combined cataract surgery with the ISTENT inject® and received postoperative automated gonioscopy with the NIDEK Gonioscope GS-1 to visualize the location of the implant. Twenty-four implants of 14 eyes in 11 patients could be visualized. Out of the implants, 14.3% were in the trabecular meshwork, 46.4% were at the border between the trabecular meshwork and scleral spur, 25% were below the trabecular meshwork, and 14.3% of the implants were not detectable in the gonioscopy. In the overall cohort, a statistically significant IOP reduction was found over the 12-month postoperative observation period. Even in three eyes, in each of which both stents were located below the trabecular meshwork, an IOP reduction over 12 months was observed compared to the baseline IOP. In this study, vertical two-dimensional positioning of the ISTENT inject® was performed for the first time using NIDKE GS-1 automated 360° goniophotography. The method is suitable for postoperative visualization, control, and documentation of positioning after ISTENT inject® implantation. Further studies are needed to analyze the correlation between positioning of the ISTENT inject® in the chamber angle and postoperative IOP reduction. Full article
(This article belongs to the Special Issue Innovation in Glaucoma: Imaging and Visual Function)
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Article
The Influence of Age, Gender and Education on Neuropsychological Test Scores: Updated Clinical Norms for Five Widely Used Cognitive Assessments
J. Clin. Med. 2023, 12(16), 5170; https://doi.org/10.3390/jcm12165170 - 08 Aug 2023
Viewed by 90
Abstract
Background: Sociodemographic effects (i.e., age, gender, education) have been shown to influence neuropsychological test scores. The current retrospective, quasi-epidemiological work provides age-, gender- and education-corrected clinical norms for five common cognitive assessments. Methods: In total, test scores of 4968 patients from the University [...] Read more.
Background: Sociodemographic effects (i.e., age, gender, education) have been shown to influence neuropsychological test scores. The current retrospective, quasi-epidemiological work provides age-, gender- and education-corrected clinical norms for five common cognitive assessments. Methods: In total, test scores of 4968 patients from the University Hospital of Cologne (Department of Neurology), recruited between 2009 and 2020, were analyzed retrospectively. Conducted tests were the Mini-Mental State Examination (MMSE), F-A-S Test (FAS), Rey–Osterrieth Complex Figure Test (ROCFT) and Trail Making Test, Part A and B (TMT-A/-B). Using multiple linear regression analyses, test scores were analyzed for sociodemographic influences (age, gender, education). Based on these analyses, norms were generated by first separating patients into different age groups stratified by educational level and (if necessary) gender. Subsequently, percentile ranks and z-scores for a subsample including only individuals without dementia were calculated. Results: Lower age and higher educational level predicted better test scores (MMSE, FAS, ROCFT) and completion times (TMT-A/-B). Additionally, produced words on the FAS and remembered drawings from the ROCFT were influenced by gender, with females having better FAS but lower ROCFT (delayed recall) scores than males. Considering these effects, clinical norms were provided for the five cognitive assessments. Conclusions: We found influences of age, gender and education on test scores, although they are frequently not or only partially considered for test score interpretation. With the provided norms, neuropsychologists can make more profound evaluations of cognitive performance. A user-friendly Microsoft Excel file is offered to assist this process. Full article
(This article belongs to the Section Clinical Neurology)
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Article
Correlation of HIV-Induced Neuroinflammation and Synaptopathy with Impairment of Learning and Memory in Mice with HAND
J. Clin. Med. 2023, 12(16), 5169; https://doi.org/10.3390/jcm12165169 - 08 Aug 2023
Viewed by 133
Abstract
Over 38 million people worldwide are living with HIV/AIDS, and more than half of them are affected by HIV-associated neurocognitive disorders (HAND). Such disorders are characterized by chronic neuroinflammation, neurotoxicity, and central nervous system deterioration, which lead to short- or long-term memory loss, [...] Read more.
Over 38 million people worldwide are living with HIV/AIDS, and more than half of them are affected by HIV-associated neurocognitive disorders (HAND). Such disorders are characterized by chronic neuroinflammation, neurotoxicity, and central nervous system deterioration, which lead to short- or long-term memory loss, cognitive impairment, and motor skill deficits that may show gender disparities. However, the underlying mechanisms remain unclear. Our previous study suggested that HIV-1 infection and viral protein R (Vpr) upregulate the SUR1-TRPM4 channel associated with neuroinflammation, which may contribute to HAND. The present study aimed to explore this relationship in a mouse model of HAND. This study employed the HIV transgenic Tg26 mouse model, comparing Tg26 mice with wildtype mice in various cognitive behavioral and memory tests, including locomotor activity tests, recognition memory tests, and spatial learning and memory tests. The study found that Tg26 mice exhibited impaired cognitive skills and reduced learning abilities compared to wildtype mice, particularly in spatial memory. Interestingly, male Tg26 mice displayed significant differences in spatial memory losses (p < 0.001), while no significant differences were identified in female mice. Consistent with our early results, SUR1-TRPM4 channels were upregulated in Tg26 mice along with glial fibrillary acidic protein (GFAP) and aquaporin 4 (AQP4), consistent with reactive astrocytosis and neuroinflammation. Corresponding reductions in neurosynaptic responses, as indicated by downregulation of Synapsin-1 (SYN1) and Synaptophysin (SYP), suggested synaptopathy as a possible mechanism underlying cognitive and motor skill deficits. In conclusion, our study suggests a possible relationship between SUR1-TRPM4-mediated neuroinflammation and synaptopathy with impairments of learning and memory in mice with HAND. These findings could help to develop new therapeutic strategies for individuals living with HAND. Full article
(This article belongs to the Section Clinical Neurology)
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Editorial
Tackling Acinetobacter baumannii
J. Clin. Med. 2023, 12(16), 5168; https://doi.org/10.3390/jcm12165168 - 08 Aug 2023
Viewed by 134
Abstract
Globally, multidrug-resistant (MDR) bacteria represent a menace to public health [...] Full article
(This article belongs to the Section Epidemiology & Public Health)
Article
Long-Term Oncological and Functional Outcomes after Laparoscopic Partial Nephrectomy with Hyperselective Embolization of Tumor Vessels in a Hybrid Operating Room
J. Clin. Med. 2023, 12(16), 5167; https://doi.org/10.3390/jcm12165167 - 08 Aug 2023
Viewed by 107
Abstract
Laparoscopic partial nephrectomy (LPN) after hyperselective embolization of tumor vessels (HETV) in a hybrid operating room (HOR) that combines traditional surgical equipment with advanced imaging technology, is a non-clamping surgical approach to treat localized kidney tumors that has shown promising short-term results. The [...] Read more.
Laparoscopic partial nephrectomy (LPN) after hyperselective embolization of tumor vessels (HETV) in a hybrid operating room (HOR) that combines traditional surgical equipment with advanced imaging technology, is a non-clamping surgical approach to treat localized kidney tumors that has shown promising short-term results. The aim of this study was to evaluate the long-term oncological and functional outcomes of this procedure. All consecutive patients treated for a localized kidney tumor by LPN after HETV between May 2015 and October 2022 in a single academic institution were included in the study. Clinical, pathological and biological data were collected prospectively in the uroCCR database. We evaluated intraoperative data, postoperative complications, surgical margin and modification of renal function after surgery. We included 245 patients. The median tumor size was 3.2 (2.5–4.4) cm. The R.E.N.A.L. complexity was low, medium and high for 104 (43.5%), 109 (45.6%) and 26 (10.9%) patients, respectively. Median LPN time was 75 (65–100) min and median blood loss was 100 (50–300) mL. Surgical postoperative complications occurred in 56 (22.9%) patients with 17 (5.7%) major complications. The median Glomerular Function Rate variation at 6 months was −7.5 (−15–−2) mL/min. Malignant tumors were present in 211 (86.1%) patients, and 12 (4.9%) patients had positive surgical margins. After a median follow-up of 27 (8–49) months, 20 (8.2%) patients had a tumor recurrence and 4 (1.6%) died from cancer. At 5 years, disease free survival, cancer specific survival and overall survival rates were 84%, 96.8% and 88.3%, respectively. Performing LPN after HETV in a HOT is a safe and efficient non-clamping approach to treat localized kidney tumors. Full article
(This article belongs to the Special Issue Abdominal Surgery: Clinical Updates and Perspectives)
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Article
Nitrofuran Derivatives Cross-Resistance Evidence—Uropathogenic Escherichia coli Nitrofurantoin and Furazidin In Vitro Susceptibility Testing
J. Clin. Med. 2023, 12(16), 5166; https://doi.org/10.3390/jcm12165166 - 08 Aug 2023
Viewed by 153
Abstract
The treatment of urinary tract infections is usually empirical. For example, nitrofuran derivatives, mainly nitrofurantoin (but also furazidin), are used in Eastern Europe. A significant problem is the assessment of the usefulness of furazidin, as there are no standards for susceptibility testing. Additionally, [...] Read more.
The treatment of urinary tract infections is usually empirical. For example, nitrofuran derivatives, mainly nitrofurantoin (but also furazidin), are used in Eastern Europe. A significant problem is the assessment of the usefulness of furazidin, as there are no standards for susceptibility testing. Additionally, a high percentage of strains resistant to nitrofurantoin should prompt caution when choosing furazidin in therapy. This study aimed to answer the question of whether it is possible to use nitrofurantoin susceptibility for furazidin drug susceptibility analyses and if there is any cross-resistance in the nitrofuran derivatives group. One hundred E. coli clinical isolates, obtained from the Central Teaching Hospital of the Medical University of Lodz, were cultured from positive urine samples. For susceptibility testing, microdilution and disk diffusion methods, following EUCAST guidelines, were used. The results showed that the MICs of furazidin were equal to or lower than those of nitrofurantoin in 89% of the tested strains. The MIC50/90 values for furazidin were two times lower than those for nitrofurantoin. Positive correlations were found between MICs and growth inhibition zones for both antibiotics. Based on the obtained data and previous studies, it was assumed that the transfer of susceptibility testing results from nitrofurantoin to furazidin is acceptable due to cross-resistance in nitrofuran derivatives. Full article
(This article belongs to the Section Pharmacology)
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Review
Management of Spinal Metastasis by Minimally Invasive Surgical Techniques: Surgical Principles and Indications—A Literature Review
J. Clin. Med. 2023, 12(16), 5165; https://doi.org/10.3390/jcm12165165 - 08 Aug 2023
Viewed by 101
Abstract
Background: Spinal metastasis is becoming more frequent. This raises the topics of pain and neurological complications, which worsen the functional and survival prognosis of oncological population patients. Surgical treatment must be as complete as possible in order to decompress and stabilize without delaying [...] Read more.
Background: Spinal metastasis is becoming more frequent. This raises the topics of pain and neurological complications, which worsen the functional and survival prognosis of oncological population patients. Surgical treatment must be as complete as possible in order to decompress and stabilize without delaying the management of the oncological disease. Minimally invasive spine surgical techniques inflict less damage on the musculocutaneous plan than opened ones. Methods: Different minimally invasive techniques are proposed in this paper for the management of spinal metastasis. We used our experience, developed degenerative and traumatic pathologies, and referred to many authors, establishing a narrative review of our local practice. Results: Forty-eight articles were selected, and these allowed us to describe the different techniques: percutaneous methods such as vertebro/kyphoplasty, osteosynthesis, mini-open surgery, or that through a posterior or anterior approach. Also, some studies detail the contribution of new technologies, such as intraoperative CT scan and robotic assistance. Conclusions: It seems essential to offer a lasting solution to a spinal problem, such as in the form of pain relief, stabilization, and decompression. Our department has embraced a multidisciplinary and multidimensional approach to MISS, incorporating cutting-edge technologies and evidence-based practices. Full article
(This article belongs to the Special Issue Latest Developments in Minimally Invasive Spinal Treatment)
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Article
Association between Serum Varicella-Zoster Virus IgM and IgG and Prognosis of Ramsay Hunt Syndrome
J. Clin. Med. 2023, 12(15), 5164; https://doi.org/10.3390/jcm12155164 - 07 Aug 2023
Viewed by 163
Abstract
Ramsay Hunt syndrome (RHS) has a poor prognosis because of varicella-zoster virus (VZV) infection. This is most closely related to severe inflammation in the geniculate ganglion of the facial nerve due to VZV infection or reactivation. This study investigated whether there were differences [...] Read more.
Ramsay Hunt syndrome (RHS) has a poor prognosis because of varicella-zoster virus (VZV) infection. This is most closely related to severe inflammation in the geniculate ganglion of the facial nerve due to VZV infection or reactivation. This study investigated whether there were differences in the prognosis and accompanying symptoms of facial paralysis based on the presence or absence of VZV IgM and IgG antibodies. This study was conducted as a retrospective chart analysis of 105 patients with RHS who were admitted to our hospital between 2015 and 2021. The House–Brackmann (HB) grade and electroneurography (ENoG) was used to evaluate the degree of facial paralysis. Patients’ subjective symptoms were evaluated by dividing them into dizziness, tinnitus, hyperacusis, and hearing loss. No difference was observed in the initial HB grade with or without IgM; however, the final HB grade was significantly higher in IgM-positive patients than in IgM-negative patients (p < 0.05). Further, when IgM was positive, the value of the orbicularis oculi muscle in the ENoG test results was significantly higher (p < 0.05), and symptoms of tinnitus and hyperacusis occurred more frequently (p < 0.05). The initial and final HB grades were significantly higher in IgG-positive patients than in IgG-negative patients (p < 0.05). When IgG was positive, the values of nasalis and oris muscles in the ENoG test results were significantly higher (p < 0.05), and symptoms of dizziness occurred more frequently (p < 0.05). This study confirmed that the more active the immunological action of the VZV in the body, the greater the damage to the facial and vestibulocochlear nerves, which are associated with the degree of facial paralysis and the accompanying otologic symptoms. Full article
(This article belongs to the Section Otolaryngology)
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Systematic Review
Between-Sex Differences in Risk Factors for Cardiovascular Disease among Patients with Myocardial Infarction—A Systematic Review
J. Clin. Med. 2023, 12(15), 5163; https://doi.org/10.3390/jcm12155163 - 07 Aug 2023
Viewed by 195
Abstract
Between-sex differences in the presentation, risk factors, management, and outcomes of acute myocardial infarction (MI) are well documented. However, as such differences are highly sensitive to cultural and social changes, there is a need to continuously re-evaluate the evidence. The present contemporary systematic [...] Read more.
Between-sex differences in the presentation, risk factors, management, and outcomes of acute myocardial infarction (MI) are well documented. However, as such differences are highly sensitive to cultural and social changes, there is a need to continuously re-evaluate the evidence. The present contemporary systematic review assesses the baseline characteristics of men and women presenting to secondary, tertiary, and quaternary centres with acute myocardial infarction (MI). Over 1.4 million participants from 18 studies, including primary prospective, cross sectional and retrospective observational studies, as well as secondary analysis of registry data are included in the study. The study showed that women were more likely than men to have a previous diagnosis of diabetes, hypertension, cerebrovascular disease, and heart failure. They also had lower odds of presenting with previous ischaemic heart disease and angina, dyslipidaemia, or a smoking history. Further work is necessary to understand the reasons for these differences, and the role that gender-specific risk factors may have in this context. Moreover, how these between-gender differences are implicated in management and outcomes also requires further work. Full article
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Review
Endocrine Side Effects in Patients Treated with Immune Checkpoint Inhibitors: A Narrative Review
J. Clin. Med. 2023, 12(15), 5161; https://doi.org/10.3390/jcm12155161 - 07 Aug 2023
Viewed by 159
Abstract
Checkpoint inhibitors are monoclonal antibodies that elicit an anti-tumor response by stimulating immune system. Their use has improved the treatment of different types of cancer such as melanoma, breast carcinoma, lung, stomach, colon, liver, renal cell carcinoma, and Hodgkin’s lymphoma, but several adverse [...] Read more.
Checkpoint inhibitors are monoclonal antibodies that elicit an anti-tumor response by stimulating immune system. Their use has improved the treatment of different types of cancer such as melanoma, breast carcinoma, lung, stomach, colon, liver, renal cell carcinoma, and Hodgkin’s lymphoma, but several adverse events have been reported. Although the etiology of these effects is not completely understood, an uncontrolled activation of the immune system has been postulated. Indeed, some studies showed a cross reactivity of T cells, which acted against tumor antigens as well as antigens in the tissues of patients who developed immune-related adverse events. Despite the known possibility of developing immune-related adverse events, early diagnosis, monitoring during therapy, and treatment are fundamental for the best supportive care and administration of immune checkpoint inhibitors. The aim of this review is to guide the clinician in early diagnosis, management, and treatment of the endocrinological adverse effects in the major endocrine glands (thyroid, pituitary, adrenal, endocrine pancreas, and parathyroid). Full article
(This article belongs to the Section Cardiology)
Article
Does Screening for Bipolar Disorders Identify a “Dysregulation of Mood, Energy, and Social Rhythms Syndrome” (DYMERS)? A Heuristic Working Hypothesis
J. Clin. Med. 2023, 12(15), 5162; https://doi.org/10.3390/jcm12155162 - 07 Aug 2023
Viewed by 206
Abstract
The aim of this paper is to verify if people with a positive score on the Mood Disorder Questionnaire (MDQ) without comorbidity of mood disorders showed a worse level of Health-related Quality of life (HRQol) compared to a control-matched sample of MDQ negatives, [...] Read more.
The aim of this paper is to verify if people with a positive score on the Mood Disorder Questionnaire (MDQ) without comorbidity of mood disorders showed a worse level of Health-related Quality of life (HRQol) compared to a control-matched sample of MDQ negatives, identifying a specific syndrome. This is a case-control study based on a database from a community survey. Cases: MDQ-positive without mood disorders; Controls: MDQ negatives matched by sex, age, and psychiatric diagnosis according to the Diagnostic and Statistical Manual of Mental Disorders IV (DSM-IV) criteria. Tools: MDQ, the Advanced Neuropsychiatric Tools and Assessment Schedule (ANTAS) semi-structured interview for psychiatric diagnosis, and the Health Survey Short Form (SF-12) for measuring HRQol. People scoring positive on the MDQ without a diagnosis of mood disorders showed significantly lower scores on the SF-12 compared to people of the same age and of the same sex with an equal diagnosis of psychiatric disorders not related to mood disorders (35.21 ± 6.30 vs. 41.48 ± 3.39, p < 0.0001). In the debate whether a positive score on the MDQ selects an area of “malaise” due to the presence of disorders differing from Bipolar Disorders, or if a positive score on the MDQ may be considered a “subthreshold” form of bipolar disorder in people who may later develop bipolar disorder, a third hypothesis can be advanced, i.e., that a positive score on the MDQ identifies a specific “Dysregulation of Mood, Energy, and Social Rhythms Syndrome” (DYMERS), characterized by a considerable amount of suffering and not attributable to other disorders, and which might represent a trigger for the previously mentioned disorders with which a positive score on the MDQ is associated, probably including, in severe conditions, bipolar disorder. Full article
(This article belongs to the Section Mental Health)
Article
Genetic Characteristics of Latvian Patients with Familial Hypercholesterolemia: The First Analysis from Genome-Wide Sequencing
J. Clin. Med. 2023, 12(15), 5160; https://doi.org/10.3390/jcm12155160 - 07 Aug 2023
Viewed by 155
Abstract
Background: There is limited data on the genetic characteristics of patients with familial hypercholesterolemia (FH) in Latvia. We aim to describe monogenic variants in patients from the Latvian Registry of FH (LRFH). Methods: Whole genome sequencing with 30× coverage was performed in unrelated [...] Read more.
Background: There is limited data on the genetic characteristics of patients with familial hypercholesterolemia (FH) in Latvia. We aim to describe monogenic variants in patients from the Latvian Registry of FH (LRFH). Methods: Whole genome sequencing with 30× coverage was performed in unrelated index cases from the LRFH and the Genome Database of Latvian Population. LDLR, APOB, PCSK9, LDLRAP1, ABCG5, ABCG8, LIPA, LPA, CYP27A1, and APOE genes were analyzed. Only variants annotated as pathogenic (P) or likely pathogenic (LP) using the FH Variant Curation Expert Panel guidelines for LDLR and adaptations for APOB and PCSK9 were reported. Results: Among 163 patients, the mean highest documented LDL-cholesterol level was 7.47 ± 1.60 mmol/L, and 79.1% of patients had LDL-cholesterol ≥6.50 mmol/L. A total of 15 P/LP variants were found in 34 patients (diagnostic yield: 20.9%): 14 in the LDLR gene and 1 in the APOB gene. Additionally, 24, 54, and 13 VUS were detected in LDLR, APOB, and PCSK9, respectively. No P/LP variants were identified in the other tested genes. Conclusions: Despite the high clinical likelihood of FH, confirmed P/LP variants were detected in only 20.9% of patients in the Latvian cohort when assessed with genome-wide next generation sequencing. Full article
(This article belongs to the Special Issue New Possibilities for the Treatment of Dyslipidemias)
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