Journal of Personalized Medicine最新文献

Background/Objectives: Headache after a traumatic brain injury (TBI) is one of the most common post-concussive symptoms and is associated with altered pain processing and elevated disability levels. Understanding physiologic correlates of nociception in individuals with persistent post-traumatic headache (pPTH) may help identify novel treatment targets for pain-related disability. The objective of this case-control study was to compare extra- and intracranial hemodynamic responses to a noxious cold pressor task (CPT) between individuals with pPTH and healthy controls (HC) using functional near-infrared spectroscopy (fNIRS). Methods: Ten individuals with pPTH were compared to ten HC with no history of TBI, persistent headache, or chronic pain. fNIRS optodes over the medial prefrontal cortex (PFC) measured extra- and intracranial peak-to-peak hemodynamic responses during tepid- (control) and cold-water (CPT) hand immersion. Evoked pain responses during the CPT were assessed with numeric pain ratings. Linear mixed effects modeling assessed the role of group and evoked pain on hemodynamic responses. Results: pPTH group membership (p = 0.031) predicted greater extracranial hemodynamic responses to the CPT, whereas intracranial PFC responses did not differ between groups. Regardless of group membership, greater increases in pain intensity during the CPT were associated with increased hemodynamic responses for the dorsomedial PFC (p = 0.031). Conclusions: Compared to controls, individuals with pPTH responded to a noxious cold stimulus with elevated systemic hemodynamic responses regulated by the autonomic nervous system. Irrespective of group, hemodynamic responses within the dmPFC were associated with evoked pain responses to the CPT and may provide a useful biomarker for individual variations in cortical pain processing for healthy and clinical populations.

Heart failure (HF) affects over 55 million individuals globally, with prevalence projected to exceed 11 million in the United States by 2050 and is increasingly recognized as a systemic disorder extending beyond hemodynamic dysfunction to encompass profound alterations in neural and gut physiology. Cognitive impairment affects nearly half of HF patients and represents a major determinant of morbidity, self-care capacity, and mortality. Recent advances suggest that the gut microbiome serves as a pivotal intermediary in the heart-brain crosstalk, influencing neurocognitive outcomes through inflammatory, metabolic, and neurohumoral pathways. Dysbiosis in HF disrupts intestinal barrier integrity, facilitating translocation of endotoxins and microbial metabolites such as trimethylamine-N-oxide (TMAO), short-chain fatty acids (SCFAs), and bile acids, which in turn modulate neuroinflammation, cerebral perfusion, and neuronal signaling. The gut-heart-brain axis provides an integrative framework linking HF and cognitive impairment pathophysiology through dysbiosis-driven systemic inflammation and metabolite dysregulation. Gut-derived biomarkers and microbiome-targeted interventions represent promising strategies for detection of early alterations and precision treatment, highlighting the urge for prospective, multi-omics studies to establish causality and therapeutic efficacy. This review synthesizes current evidence connecting gut microbiome dysbiosis and metabolite alterations to both HF and cognitive impairment pathophysiology and proposes translational strategies for integrating microbiome-targeted therapies in HF patients with cognitive dysfunction.

Significant pelvic pain is a fairly common malady in the United States. At the same time, the opioid epidemic has changed how pain is thought about and treated, resulting in a clear call for alternative treatment strategies. One of the promising techniques that has emerged over the last several years is cryoneurolysis. Cryoneurolysis allows for personalization of treatment through targeting of specific peripheral nerves, which correspond to a patient's pain. In the setting of pelvic pain, several viable targets, namely the pudendal nerve and impar ganglion, have been described. This review delineates the mechanism of action in cryoneurolysis, reviews the pertinent literature and describes patient workup and technique. Finally, future directions are discussed.

Background/Objectives: Eyelid malignancies represent a clinically relevant subset of cutaneous tumors of the head and neck, with significant functional and cosmetic implications. While basal cell carcinoma (BCC) is the predominant subtype, geographic differences in the relative frequency of squamous cell carcinoma (SCC) and rarer histotypes have been reported. This study aimed at comparing the distribution of malignant eyelid tumors diagnosed in two Italian referral centers, namely Cagliari (Sardinia) and Milan (Lombardy) between 2020 and 2024, and to explore demographic and epidemiologic correlates. Methods: A total of 250 malignant eyelid tumors were analyzed: 130 from Cagliari and 120 from Milan. BCC was the most common histological subtype overall (83.2%), followed by SCC (12.4%) and other malignancies (4.4%). The proportion of SCC was significantly higher in Milan (18.3%) compared to Cagliari (6.9%, p = 0.04). Logistic regression confirmed Milan as an independent risk factor for SCC (OR 3.79; 95% CI 1.57-9.18; p = 0.003). Male gender also emerged as a predictor of SCC (OR 2.50; 95% CI 1.10-5.67; p = 0.029). Most cases occurred in patients ≥70 years; cases under 50 years were rare (≈3%). Conclusions: BCC remains the predominant malignant eyelid tumor in Italy; significant inter-regional variability exists, with a higher proportion of SCC in northern Italy. These findings highlight the role of environmental, demographic, and organizational factors, and emphasize the need for multicenter registries. Region-specific insights may inform personalized prevention and surveillance strategies for eyelid malignancies. These findings may support the development of region-tailored prevention models and contribute to the growing field of personalized oncology within ophthalmology.

Background/Objectives: The primary objective of this study was to evaluate the accuracy of maxillary repositioning using a two-plate patient-specific osteosynthesis system. The secondary objective was to determine whether accuracy is influenced by the number of maxillary segments. Methods: A retrospective single-centre cohort study was conducted on patients undergoing bimaxillary orthognathic surgery with a maxilla-first two-plate PSO system. Virtual Surgical Planning was performed based on the Cone-Beam Computed Tomography (CBCT) data of the patient, with patient-specific plates being designed and manufactured accordingly. Postoperative CBCT scans (7-10 days post-op) were registered to the preoperative plan, and deviations in translation and rotation between the plan and results were determined. Sub-group analyses were performed on one-, two- and three-segment maxillary osteotomy patient groups. Results: The inclusion criteria were met by 61 patients, of whom 47 were included for analysis (mean age 27.9 ± 9.4 years). Sub-millimetre median translational accuracies were found: anteroposterior 0.7 mm, transverse 0.4 mm, vertical 0.6 mm. The median rotational deviations were ≤1° for yaw and roll, and 1.6° for pitch. Accuracy was consistent across the one-, two-, and three-segment osteotomy groups. Conclusions: The two-plate PSO system is clinically accurate in bimaxillary surgery. There is no significant difference in accuracy between one-piece and segmental osteotomies of the maxilla when using the two-plate system.

Objective: The objective of this study is to examine the detailed pregnancy and neonatal outcomes of women without male partners undergoing intrauterine insemination (IUI) compared to women with male partners. Methods: This is a retrospective cohort study of all patients who completed an IUI cycle from 2017 to 2023. 2414 cycles were included in the study: 149 cycles for women without male partners (including single and lesbian women) and 2265 cycles for women with male partners. Primary outcomes were the rates of clinical pregnancy, miscarriage, and live birth. Secondary outcomes were obstetric complication rates and neonatal outcomes. Results: Women without male partners undergoing IUI were significantly older than the reference cohort (median age 42 years versus 38 years, p < 0.0001). 84.1% of women without male partners did not have a diagnosis of the common causes of female infertility. Both cohorts had similar cycle characteristics and number of IUI cycles until pregnancy and live birth. The mean clinical pregnancy rate per cycle for women without male partners was 11.4% versus 12.5% for the reference group (p = 0.56), and the mean live birth rate was 8.1% versus 8.2% (p = 0.95). Multiple pregnancy, cumulative pregnancy, and clinical miscarriage rates were also similar. Similarities persisted after adjusting for confounders: age, BMI, race, and infertility diagnosis. Importantly, there were no statistically significant differences in obstetric complications (such as hypertensive disorders of pregnancy, gestational diabetes, placental disorders) and neonatal outcomes. Conclusions: Compared to women with male partners undergoing IUI, women without male partners had similar rates of clinical pregnancy (per cycle and cumulative), miscarriage, and live birth; there were no significant differences in obstetric complications or neonatal outcomes.

Birt-Hogg-Dubé (BHD) syndrome is a rare genetic disease, inherited in an autosomal dominant manner, that was first described in the mid-1970s and occurs due to pathogenic variants in the folliculin gene (FLCN) on chromosome 17p11.2. The syndrome has numerous clinical manifestations and primarily affects the lungs, kidneys, and skin. As far as the pulmonary features are concerned, more than 80% of patients appear to develop bilateral pulmonary cysts located in the lower lung zones, in the subpleural area, with cumulative risk of spontaneous pneumothorax depending on the number of cysts in the lungs. Another serious feature of the syndrome is the increased risk of renal cell carcinoma, which is often an incidental finding on screening or medical imaging. Cutaneous manifestations include benign fibrofolliculomas, trichodiscomas, and acrochordons (skin tags), which primarily affect the patients' emotional status as a result of their cosmetic defects. BHD syndrome is generally an underdiagnosed condition due to the great variability of its clinical picture, thus highlighting the importance of genetic testing for FLCN mutations in suspected cases. The application of ERN GENTURIS guidelines in clinical practice can facilitate early, accurate diagnosis of the disease and optimal personalized management of the patients.

Background: Secretan's syndrome is a rare and under-recognized condition characterized by chronic, indurated, non-pitting edema of the dorsal hand with thumb sparing. Twelve studies reporting 17 patients have been published worldwide, mostly as isolated case reports, and its pathogenesis remains debated between traumatic, inflammatory, and factitious mechanisms. This article presents a surgically managed hyperplastic case and a literature review, highlighting how precision medicine principles can guide diagnosis and treatment. Materials and Methods: A 36-year-old healthcare worker developed progressive dorsal swelling of the left hand following minor trauma, with marked restriction of metacarpophalangeal flexion. Laboratory tests and radiographs were normal. MRI demonstrated peritendinous fibrosis encasing the extensor tendons. Psychiatric evaluation excluded factitious behavior. Due to functional limitation and MRI evidence of fibrosis, selective fasciotomies and tenolysis were performed. A systematic literature review was conducted, in accordance with the PRISMA 2020 guidelines, to summarize epidemiology, clinical and imaging features, histopathology, and management options. Results: Histology revealed fibro-adipose tissue with chronic inflammatory changes and CD68+ histiocytic aggregates; microbiological cultures were negative. Postoperative rehabilitation enabled significant functional recovery. The literature review confirmed the scarcity of published cases and the absence of standardized guidelines. MRI proved the most informative imaging tool, while surgery was described only in refractory forms. Conclusions: This case and review illustrate how a precision medicine approach can optimize management of rare disorders. Early MRI-based diagnosis, multidisciplinary assessment, and phenotype-driven surgical intervention allowed tailored treatment and favorable outcome. Personalized care that integrates clinical features, imaging findings, and patient-specific factors may improve results despite the limited evidence base.

Background: Considering the increased need to deliver adjuvant radiotherapy (RT) after pleurectomy/decortication (P/D) for malignant pleural mesothelioma (MPM) without exceeding the tolerance of the adjacent normal tissue, new advanced RT technologies have been developed. However, radiation to the whole hemithorax presents a challenge because of the increased risk of toxicity occurring with two intact radiosensitive lungs. The aim of this study is to systematically review the literature in order to assess the role of radiotherapy after P/D for MPM, based on the evidence published so far. Methods: We conducted this systematic review according to PRISMA guidelines and registered in an international public register of systematic review (PROSPERO). A PubMed and Cochrane database search was performed to identify articles published from 2005 to 2024 regarding the role of adjuvant radiotherapy after P/D for MPM. We included only level I-III-evidence studies according to the Oxford Centre for Evidence-Based Medicine's guidance. Results: We selected 11 level II studies. Based on published reports, delivery of high-dose external beam 'conventional' RT to the entire hemithorax is not recommended in a P/D setting and hemithoracic intensity-modulated radiotherapy (IMRT) may be considered an encouraging and reasonable therapeutic option, leading to excellent loco-regional control and survival results. Conclusions: Data and experience strongly support that the ideal platform to define potential indication of the adjuvant RT is a multidisciplinary team. Moreover, given the technical difficulty of IMRT treatment, we recommend considering this treatment in experienced centers with dedicated protocols for MPM due to their ability to detect and manage side effects resulting from the disease and the treatment as well as to ensure the best and the latest treatment plan for each patient.

Background: Facial retaining ligaments are pivotal in maintaining facial structure and are increasingly recognized as critical components in modern facelift procedures. Their age-related laxity contributes to facial sagging, jowling, and volume descent, necessitating a detailed understanding of their anatomy and function to achieve natural and lasting aesthetic outcomes. Despite advances in technique, there remains an ongoing debate regarding whether surgical preservation or release of these ligaments yields superior results. Methods: This narrative review analyzes peer-reviewed literature on various facelift techniques, focusing specifically on how each approach manages retaining ligaments. Techniques assessed include subcutaneous, SMAS, deep plane, composite, subperiosteal, and extended SMAS rhytidectomies, as well as more recent methods such as the MACS lift and PRESTO facelift. Anatomical variations and their surgical implications were evaluated, alongside aesthetic outcomes, recovery profiles, and complication risks. Results: Ligament-releasing techniques, such as the deep plane and extended SMAS facelifts, allow for greater tissue mobilization, improved repositioning of midfacial and cervical tissues. Conversely, ligament-preserving techniques, such as the MACS and PRESTO lifts, offer safer, less invasive, though with more limited correction in severe laxity. The review emphasizes that variability in ligament anatomy requires a patient-specific surgical plan to optimize results. Conclusions: The management of retaining ligaments remains a cornerstone of facial rejuvenation strategies. Surgical success hinges on a tailored approach, balancing the need for comprehensive lift with the preservation of facial identity and anatomical safety. Further clinical research and advancements in imaging and surgical technology are needed to refine technique selection and enhance long-term outcomes.