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Journal of Clinical Medicine Jun 2024: Huntington's disease (HD) is an autosomal dominant genetic disorder causing progressive neurodegeneration which, aside from symptomatic therapies for controlling... (Review)
Review
: Huntington's disease (HD) is an autosomal dominant genetic disorder causing progressive neurodegeneration which, aside from symptomatic therapies for controlling psychological and motor problems, currently has no effective treatment. People who receive this diagnosis often feel disoriented and lost without guidance. Furthermore, HD patients are estimated to have a two to seven times greater risk of suicide death compared to the general population. The current review investigates the complex relationship between HD and suicide, seeking to identify key risk factors influencing suicidal ideation and behaviour in affected individuals. : We conducted a systematic review following the PRISMA guidelines. Studies were searched for on the PubMed, Cochrane, and Web of Science databases, and 17 articles met the inclusion criteria. : The findings reveal that emotional strain, neuropsychiatric symptoms, and the absence of a cure contribute to heightened suicidal tendencies in HD patients. Critical periods for suicide risk coincide with early symptomatic stages of disease or the successive phase, with the loss of independence impacting on daily functioning. Risk factors associated with HD include a depressive mood, cognitive impairments, and a history of suicide attempts. : From a prevention perspective, a comprehensive multidisciplinary and multidimensional approach could enhance the overall well-being of people with HD. In particular, screening for suicidal thoughts in people with HD could mitigate suicide risk.
PubMed: 38929966
DOI: 10.3390/jcm13123437 -
Journal of Clinical Medicine Jun 2024Floating-Harbor syndrome (FHS) is an extremely rare genetic disorder connected with a distinctive facial appearance, various skeletal malformations, delayed bone age,...
Floating-Harbor syndrome (FHS) is an extremely rare genetic disorder connected with a distinctive facial appearance, various skeletal malformations, delayed bone age, and expressive language delays. It is caused by heterozygous mutations in the Snf2-related CREBBP activator protein (SRCAP) gene. The aim of this paper is to describe the case of a 14-year-old male with FHS, referring to a review of the literature, and to collect all reported symptoms. In addition, the orthodontic treatment of the patient is described. For this, the electronic databases PubMed and Scopus were searched using the keyword "Floating-Harbor syndrome". Similar to previous cases in the literature, the patient presented with short stature; a triangular face with a large bulbous nose; deep-set eyes and narrow eyelid gaps; a wide mouth with a thin vermilion border of the upper lip; and dorsally rotated, small ears. They also presented some less-described symptoms, such as macrodontia and micrognathia. Moreover, mild mental retardation, microcephaly, and delayed psychomotor development were found. On the basis of an extraoral, intraoral examination, X-rays, and CBCT, he was diagnosed with overbite, canine class I and angle class III, on both sides. To the best of our knowledge, orthodontic treatment of this disease has not been assessed in detail so far, so this is the first case.
PubMed: 38929963
DOI: 10.3390/jcm13123435 -
Journal of Personalized Medicine Jun 2024Poorly differentiated thyroid carcinoma (PDTC) has an intermediate prognosis between indolent well-differentiated thyroid carcinoma (TC) and anaplastic carcinoma.... (Review)
Review
BACKGROUND
Poorly differentiated thyroid carcinoma (PDTC) has an intermediate prognosis between indolent well-differentiated thyroid carcinoma (TC) and anaplastic carcinoma. Herein, we present a case report with a PDTC component, along with a systematic review of the literature.
CASE REPORT
We report a case of a 45-year-old man diagnosed with a PDTC component, along with hobnail and tall-cell variant features positive for BRAFV600E mutation, after a total thyroidectomy and neck dissection. Radioactive iodine (RAI)-131 therapy was applied, but an early recurrence led to complementary surgeries. The anti-Tg rise, the presence of new lymph nodes, and the negative whole-bodyradioiodine scan were suggestive of a radioiodine-resistant tumor. Lenvatinib, sorafenib, dabrafenib/trametinib, cabozantinib and radiotherapy were all administered, controlling the tumor for a period of time before the patient ultimately died post-COVID infection. Systematic Review: We searched PubMed, Scopus, and WebofScience to identify studies reporting clinicopathological characteristics, molecular marker expression, and management of non-anaplastic TC with any proportion of PDTC in adult patients. Of the 2007 records retrieved, 82were included in our review (PROSPERO-ID545847).
CONCLUSIONS
Our case, together with the systematic review, imply that a combination of molecular-targetedtreatments may be safe and effective in patients with RAI-resistantBRAF-mutated advanced PDTC when surgery has failed to control tumor progression.
PubMed: 38929875
DOI: 10.3390/jpm14060654 -
Journal of Personalized Medicine Jun 2024AI is included in a lot of different systems. In facial surgery, there are some AI-based software programs oriented to diagnosis in facial surgery. This study aims to... (Review)
Review
AI is included in a lot of different systems. In facial surgery, there are some AI-based software programs oriented to diagnosis in facial surgery. This study aims to evaluate the capacity and training of models for diagnosis of dentofacial deformities in class II and class III patients using artificial intelligence and the potential use for indicating orthognathic surgery. The search strategy is from 1943 to April 2024 in PubMed, Embase, Scopus, Lilacs, and Web of Science. Studies that used imaging to assess anatomical structures, airway volume, and craniofacial positions using the AI algorithm in the human population were included. The methodological quality of the studies was assessed using the Effective Public Health Practice Project instrument. The systematic search identified 697 articles. Eight studies were obtained for descriptive analysis after exclusion according to our inclusion and exclusion criteria. All studies were retrospective in design. A total of 5552 subjects with an age range between 14.7 and 56 years were obtained; 2474 (44.56%) subjects were male, and 3078 (55.43%) were female. Six studies were analyzed using 2D imaging and obtained highly accurate results in diagnosing skeletal features and determining the need for orthognathic surgery, and two studies used 3D imaging for measurement and diagnosis. Limitations of the studies such as age, diagnosis in facial deformity, and the included variables were observed. Concerning the overall analysis bias, six studies were at moderate risk due to weak study designs, while two were at high risk of bias. We can conclude that, with the few articles included, using AI-based software allows for some craniometric recognition and measurements to determine the diagnosis of facial deformities using mainly 2D analysis. However, it is necessary to perform studies based on three-dimensional images, increase the sample size, and train models in different populations to ensure accuracy of AI applications in this field. After that, the models can be trained for dentofacial diagnosis.
PubMed: 38929868
DOI: 10.3390/jpm14060647 -
Journal of Personalized Medicine May 2024Pain perception, far from being a pathological mechanism, is a crucial protective stimulus to prevent additional injuries. Any disturbance in this complex system poses... (Review)
Review
INTRODUCTION
Pain perception, far from being a pathological mechanism, is a crucial protective stimulus to prevent additional injuries. Any disturbance in this complex system poses significant risks to individuals, affecting their quality of life and even their survival.
OBJECTIVE
This review aims to explore congenital insensitivity to pain, an extremely rare genetic disorder with an autosomal recessive pattern that results in the inability to perceive pain. We will focus on the well-known subtype, congenital insensitivity to pain with anhidrosis (CIPA). Our research seeks to update existing knowledge through a comprehensive literature review.
METHODOLOGY
The review employs a systematic literature review, analyzing various sources and scientific documents, primarily emphasizing CIPA. The review follows the PROSPERO protocol, registered under CRD42023394489. The literature search was performed on the Scopus, PubMed, and Cinahl databases.
RESULTS
Our review reveals secondary complications associated with CIPA, such as recurrent bone fractures, temperature insensitivity, self-mutilation, and, occasionally, intellectual disabilities. The limited available information underscores the need for expanding our knowledge.
CONCLUSIONS
In summary, CIPA, particularly, presents a significant medical challenge with adverse impacts on quality of life. Early diagnosis, education for families and healthcare professionals, and appropriate nursing care are essential for effective management. This review highlights the necessity of further research and awareness to enhance support for those affected.
PubMed: 38929791
DOI: 10.3390/jpm14060570 -
Life (Basel, Switzerland) May 2024Breast cancer is the most frequently diagnosed cancer in women worldwide. According to recent studies, alterations in the microbiota and epigenetic modulations are risk... (Review)
Review
Breast cancer is the most frequently diagnosed cancer in women worldwide. According to recent studies, alterations in the microbiota and epigenetic modulations are risk factors for this disease. This systematic review aims to determine the possible associations between the intestinal and mammary microbial populations, epigenetic modifications, and breast cancer. To achieve this objective, we conducted a literature search in the PubMed, Web of Science, and Science Direct databases following the PRISMA guidelines. Although no results are yet available in humans, studies in mice suggest a protective effect of maternal dietary interventions with bioactive compounds on the development of breast tumors in offspring. These dietary interventions also modified the gut microbiota, increasing the relative abundance of short-chain fatty acid-producing taxa and preventing mammary carcinogenesis. In addition, short-chain fatty acids produced by the microbiota act as epigenetic modulators. Furthermore, some authors indicate that stress alters the gut microbiota, promoting breast tumor growth through epigenetic and gene expression changes in the breast tumor microenvironment. Taken together, these findings show the ability of epigenetic modifications and alterations of the microbiota associated with environmental factors to modulate the development, aggressiveness, and progression of breast cancer.
PubMed: 38929688
DOI: 10.3390/life14060705 -
Life (Basel, Switzerland) May 2024Point-of-care ultrasound (POCUS) integration into neonatology offers transformative potential for diagnostics and treatment, enhancing immediacy and precision of... (Review)
Review
Point-of-care ultrasound (POCUS) integration into neonatology offers transformative potential for diagnostics and treatment, enhancing immediacy and precision of clinical decision-making in this vulnerable patient population. This systematic review aims to synthesize evidence on POCUS applications, benefits, challenges, and educational strategies in neonatology. Literature search was conducted using SPIDER scheme keywords and MeSH terms related to POCUS and neonatology. Studies focusing on POCUS applications, its impact on clinical outcomes, and educational interventions for skill acquisition were included and analyzed using standardized tools, followed by a narrative synthesis of the findings. The search yielded 68 relevant publications, encompassing original research, reviews, and guidelines. POCUS applications varied across cardiovascular, pulmonary, neurological, and abdominal assessments. Key benefits included a reduced need for invasive procedures and rapid bedside diagnosis. Challenges included steep learning curves for clinicians and the need for standardized training and guidelines. Educational strategies highlighted the effectiveness of simulation-based training in enhancing ultrasound proficiency among neonatal care providers. POCUS represents a significant advancement in neonatal medicine, offering benefits for patient care. Addressing identified challenges through comprehensive training programs and developing standardized guidelines is crucial for optimized use. Future research should focus on evaluating educational outcomes and long-term impacts of POCUS integration into neonatal care.
PubMed: 38929641
DOI: 10.3390/life14060658 -
Medicina (Kaunas, Lithuania) Jun 2024: Radicalization, a complex and multifaceted phenomenon, has been a subject of increasing concern in recent years, particularly due to its potential connection to acts... (Review)
Review
: Radicalization, a complex and multifaceted phenomenon, has been a subject of increasing concern in recent years, particularly due to its potential connection to acts of mass violence and terrorism. This systematic review examines the intricate link between radicalization and psychotic disorders, utilizing various sources such as observational studies, case reports, and series. It aims to highlight the prevalence of schizophrenia spectrum and other psychotic disorders among radicalized individuals and to define the role of mental health professionals in dealing with this issue, contributing to the development of prevention and treatment strategies. : The methodology involved an extensive literature search across PubMed, Scopus, and APA PsycINFO up to 1 February 2024, adhering to PRISMA guidelines. The study focused on radicalization and psychotic disorders as defined by DSM-5 criteria, excluding other mental disorders. A population sample of 41 radicalized individuals diagnosed with psychotic disorders was selected, among which schizophrenia was identified as the predominant condition. : It was observed that 24% of these individuals passed away soon after committing their crimes, leading the researchers to rely on retrospective data for their diagnoses. The use of diverse assessment tools for psychiatric diagnosis and the lack of a standardized method for diagnosing or assessing involvement in the radicalization process were also noted. Despite limitations like reliance on observational studies and case reports, which result in low evidence quality and varied methodologies, our work provides a valuable contribution to clarifying the relationship between radicalization and psychotic disorders. However, further clinical studies are needed to delve deeper into these aspects. : In conclusion, our review points out that individuals with psychotic disorders do not have a higher crime rate than the general population and warns against associating crimes with mental illness due to the stigma it creates. The lack of uniform psychiatric diagnostic tools and radicalization assessment highlights the need for more standardized risk assessment tools and validated scales in psychiatric diagnosis to better understand the relationship between radicalization and psychotic disorders and to develop integrated protocols.
Topics: Humans; Psychotic Disorders; Schizophrenia; Terrorism
PubMed: 38929543
DOI: 10.3390/medicina60060926 -
Medicina (Kaunas, Lithuania) May 2024: The European Association of Urology guidelines on urolithiasis highlight the limited evidence supporting the superiority of percutaneous nephrostomy (PCN) over... (Meta-Analysis)
Meta-Analysis
: The European Association of Urology guidelines on urolithiasis highlight the limited evidence supporting the superiority of percutaneous nephrostomy (PCN) over retrograde ureteral stent placement for the primary treatment of infected hydronephrosis secondary to urolithiasis. We, therefore, conducted a systematic review and meta-analysis comparing the effects of PCN and retrograde ureteral stent in patients with severe urinary tract infections secondary to obstructive urolithiasis. : Meta-analyses were performed to compare four outcomes: time for the temperature to return to normal; time for the white blood cell (WBC) count to return to normal; hospital length of stay; and procedure success rate. After a full-text review, eight studies were identified as relevant and included in our systematic review and meta-analysis. : No significant difference was detected between PCN and retrograde ureteral stenting for the time for the temperature to return to normal ( = 0.13; mean difference [MD] = -0.74; 95% confidence interval [CI] = -1.69, 0.21; I = 96%) or the time for the WBC count to return to normal ( = 0.24; MD = 0.46; 95% CI = -0.30, 1.21; I = 85%). There was also no significant difference between methods for hospital length of stay ( = 0.78; MD = 0.45; 95% CI = -2.78, 3.68; I = 96%) or procedure success rate ( = 0.76; odds ratio = 0.86; 95% CI = 0.34, 2.20; I = 47%). : The clinical outcomes related to efficacy did not differ between PCN and retrograde ureteral stenting for severe urinary tract infection with obstructive urolithiasis. Thus, the choice between procedures depends mainly on the urologist's or patient's preferences.
Topics: Humans; Stents; Urinary Tract Infections; Urolithiasis; Nephrostomy, Percutaneous; Length of Stay; Treatment Outcome; Male
PubMed: 38929478
DOI: 10.3390/medicina60060861 -
Medicina (Kaunas, Lithuania) May 2024Muscle properties are critical for performance and injury risk, with changes occurring due to physical exertion, aging, and neurological conditions. The MyotonPro... (Review)
Review
Muscle properties are critical for performance and injury risk, with changes occurring due to physical exertion, aging, and neurological conditions. The MyotonPro device offers a non-invasive method to comprehensively assess muscle biomechanical properties. This systematic review evaluates the reliability of MyotonPro across various muscles for diagnostic purposes. Following PRISMA guidelines, a comprehensive literature search was conducted in Medline (PubMed), Ovid (Med), Epistemonikos, Embase, Cochrane Library, Clinical trials.gov, and the WHO International Clinical Trials platform. Studies assessing the reliability of MyotonPro across different muscles were included. A methodological quality assessment was performed using established tools, and reviewers independently conducted data extraction. Statistical analysis involved summarizing intra-rater and inter-rater reliability measures across muscles. A total of 48 studies assessing 31 muscles were included in the systematic review. The intra-rater and inter-rater reliability were consistently high for parameters such as frequency and stiffness in muscles of the lower and upper extremities, as well as other muscle groups. Despite methodological heterogeneity and limited data on specific parameters, MyotonPro demonstrated promising reliability for diagnostic purposes across diverse patient populations. The findings suggest the potential of MyotonPro in clinical assessments for accurate diagnosis, treatment planning, and monitoring of muscle properties. Further research is needed to address limitations and enhance the applicability of MyotonPro in clinical practice. Reliable muscle assessments are crucial for optimizing treatment outcomes and improving patient care in various healthcare settings.
Topics: Humans; Reproducibility of Results; Muscle, Skeletal; Diagnostic Tests, Routine
PubMed: 38929468
DOI: 10.3390/medicina60060851