Blunt Trauma and Right Diaphragmatic Rupture: Unveiling the Impact

Traumatic diaphragmatic ruptures are rare, yet blunt injuries tend to be more easily overlooked compared to penetrating trauma. The minimal evidence of external injuries makes a high index of suspicion key for diagnosis. We report the case of a right-sided thoracoabdominal blunt trauma that resulted in a diaphragmatic rupture and fractured rib. Although often approached through a midline laparotomy, a definitive right thoracotomy repair was exceptionally performed since the adjacent peritoneum remained uninjured.info:eu-repo/semantics/publishedVersio

Curettage or Resection? A Review on the Surgical Treatment of Low-Grade Chondrosarcomas

Introduction Low-grade chondrosarcomas (LG-CS), including atypical cartilaginous tumors (ACT), are locally aggressive lesions. The focus of the discussion sits on the differential diagnosis between benign lesions or aggressive cartilaginous tumors and on their treatment: intralesional curettage or wide resection. This study presents the results obtained in the surgical treatment of 21 cases of LG-CS. Methods This retrospective study includes 21 consecutive patients from a single center with LG-CS who underwent surgery from 2013 to 2021. Fourteen were located in the appendicular skeleton, and seven in the axial (shoulder blade, spine, or pelvis). Mortality rate, recurrence, metastatic disease, overall survival, recurrence-free survival, and metastatic disease-free survival were analyzed for each type of procedure and each disease location. Operative complications and residual tumors were also recorded in cases where resection was performed. Survival was calculated using the Kaplan-Meier method. Results Thirteen patients underwent intralesional curettage (11 appendicular and 2 axial lesions), and eight underwent wide resection (5 axial and 3 appendicular). There were six recurrences during the follow-up, 43% of the axial lesions recurred, rising to 100% in axial curetted ones. Appendicular LG-CS recurred in 21% of cases, and only 18% of curetted appendicular lesions were not eradicated. The overall survival for the entire follow-up is 90.5%, and the 5-year survival rate is 83% (12 patients have adequate follow-up). Recurrence-free and metastasis-free survival were higher in resection cases, with 75% and 87.5%, vs. curettage 69.2% and 76.9%, respectively. In 9% of cases, the preoperative biopsy was inconsistent with the pathology of the surgical specimen. Discussion LG-CS and ACT are described as having high survival and low potential for metastatic disease. For this reason, these lesions are subject to a change in treatment philosophy to reflect these characteristics. Intra-lesional curettage is advocated as a less invasive technique for eradicating atypical cartilage tumors and has fewer and less severe complications, which was in accordance with our findings. Diagnosis, however, is challenging; misgrading is frequent and should be considered. Because of this risk of under-treating higher-grade lesions, some authors still defend wide-resection as the treatment of choice. We observed a trend towards longer survival, less recurrence, and metastatic disease with wide resection. Metastatic disease was higher than expected, present in 19% of cases, and always associated with local recurrence. Conclusion LG-CS is still a diagnostic and treatment challenge; patient selection is fundamental. Overall survival is high, independent of treatment choice or lesion location. We found a higher rate of metastatic disease than described in the literature; this, coupled with a misgrading rate of 9%, reflects the difficulty of preoperative diagnosis and the risk of treating high-grade chondrosarcomas as a low-grade lesion. More studies should be carried out with larger samples to obtain statistically robust results.info:eu-repo/semantics/publishedVersio

Accidental Diagnosis of Isolated Persistent Left Superior Vena Cava After an Elective Central Venous Access Procedure for Chronic Hemodialysis: Clinical Implications and Precautions From a Case Report

Persistent left superior vena cava (PLSVC) is the most frequent thoracic venous anatomical variant in the general population. Isolated PLSVC, without formation of the right superior vena cava, is described in 10% of cases of PLSVC only. While it can be associated with congenital heart disease, arrhythmias, and premature death, adult patients with PLSVC are mostly asymptomatic, and the diagnosis is usually accidental. We present the case of a 72-year-old male with end-stage renal disease who was started on urgent hemodialysis through a temporary non-tunneled femoral central venous catheter (CVC) in the SLED (slow low-efficiency dialysis) modality and later remained dependent on hemodialysis. At this stage, placement of a tunneled CVC in the right internal jugular vein was necessary and fluoroscopy guidance was not available. There were no complications during the procedure, but postoperative conventional chest radiography revealed an inadequate positioning of the CVC tip in the left hemithorax, crossing the midline. Subsequently, the diagnosis of PLSVC was obtained by performing a thoracic angio-CT scan, confirming CVC tip positioning inside the PLSVC, and also excluded the presence of cardiac defects or additional anatomical variations of the great vessels of the thorax. Early evaluation for the creation of autologous vascular access was started under our care, and there were no mechanical or other complications associated with hemodialysis sessions during early follow-up after discharge.info:eu-repo/semantics/publishedVersio

Uma Apresentação Atípica e Não-Cardíaca de Cardiomiopatia Hipertrófica

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Inadequate Adenosine-Induced Flow Arrest During Intraoperative Basilar Aneurysm Surgery

Aneurysmal subarachnoid hemorrhage (SAH) is an acute neurologic emergency. We report the case of a 48-year-old male with a massive SAH caused by a ruptured aneurysm of the vertebrobasilar transition. During an urgent craniotomy, due to an aneurysm re-rupture, adenosine was given for flow arrest but no sinus pause was observed. Esmolol was administered and strategies for cerebral protection were implemented. The surgeon was able to clip the aneurysm and the patient was discharged after 78 days without sequelae. The highest adenosine dose given did not result in an efficient cardiac pause. Atropine given one hour before could have contributed to this. This case highlights a successfully managed case of ruptured aneurysm with refractory adenosine-induced flow arrest.info:eu-repo/semantics/publishedVersio

Gender-Affirming Hormone Therapy: Physical and Sociopsychological Effects, Impact and Satisfaction

Background Gender dysphoria treatment includes gender-affirming hormone therapy (GAHT). Studies are still lacking on how to characterize its effects and impact on transgender people's lives more effectively. Aim To study the physical and psychological effects of GAHT on transgender individuals, assess its impact on their lives, and rate their overall satisfaction. Methods Participants (n = 114; ages 18-62 years; median age 24.0 (21.0 - 33.0) years) included transgender adults residing in Portugal who were undergoing or had undergone hormonal therapy for at least one uninterrupted year. Participants completed an original questionnaire. For most items, an ordinal Likert-style scale ranging from 0 (worst result) to 6 (best result) was used. Descriptive statistics and non-parametric tests, including Pearson's chi-squared test, Wilcoxon signed-rank test, and Mann-Whitney U test were used to analyze categorical and continuous variables, with a significance level set at 0.05. Outcomes The outcomes included desired physical changes rating (perception and satisfaction with changes); side effects of GAHT; the sociopsychological impact of GAHT (on self-esteem, body image, psychological wellbeing, social and family relations); overall satisfaction (with treatment results and medical follow-up). Results The changes classified as the most perceptible in those undergoing masculinizing treatment (Group M) were amenorrhea (6 (5.0-6.0) points) and clitoris enlargement (6 (5.0-6.0) points). These were also the ones rated as the most satisfactory (6 (6.0-6.0) points for amenorrhea and 6 (4.0-6.0) points for clitoris enlargement). On those undergoing feminizing therapy (Group F), the alteration voted as the most perceptible was sperm production decrease (6 (2.0-6.0) points), and the ones classified as the most satisfactory were sperm production decrease (6 (4.0-6.0) points) and spontaneous erections decrease (6 (5.0-6.0) points). Side effects were reported by 89.7% of Group M (mood swings were the most common) and 96.3% of Group F (decreased libido was the most frequent). The sociopsychological impact of hormonal treatment was significantly positive in all analyzed variables (p<0.001). Overall satisfaction with treatment results and medical follow-up were rated with 5 points and 4.5 points, respectively. Clinical implications This study provides clinicians with more evidence that GAHT may improve the physical, psychological and social health of transgender people seeking medical transition. Strengths and limitations The strengths of the current study include a high participant count relative to the target population, the acquisition of data on previously unexplored variables, and the significance of being one of the few investigations of its kind conducted in Portugal. However, the study has limitations, including differences in participant characteristics, a small sample size for some variables, potential bias due to the retrospective nature of the study, individualized treatment regimens, and the inclusion of participants from different countries, which limit the generalization of the results. Conclusions This study provides further evidence that GAHT is effective, and that its physical effects are satisfactory while resulting in mostly non-severe nor life-threatening side effects. GAHT is an important therapy in gender dysphoria and has consistent results in improving numerous sociopsychological variables.info:eu-repo/semantics/publishedVersio

Challenges in the Definitive Diagnosis of Niemann–Pick Type C—Leaky Variants and Alternative Transcripts

Niemann-Pick type C (NPC, ORPHA: 646) is a neuro-visceral, psychiatric disease caused predominantly by pathogenic variants in the NPC1 gene or seldom in NPC2. The rarity of the disease, and its wide range of clinical phenotypes and ages of onset, turn the diagnosis into a significant challenge. Other than the detailed clinical history, the typical diagnostic work-up for NPC includes the quantification of pathognomonic metabolites. However, the molecular basis diagnosis is still of utmost importance to fully characterize the disorder. Here, the authors provide an overview of splicing variants in the NPC1 and NPC2 genes and propose a new workflow for NPC diagnosis. Splicing variants cover a significant part of the disease-causing variants in NPC. The authors used cDNA analysis to study the impact of such variants, including the collection of data to classify them as leaky or non-leaky pathogenic variants. However, the presence of naturally occurring spliced transcripts can misdiagnose or mask a pathogenic variant and make the analysis even more difficult. Analysis of the NPC1 cDNA in NPC patients in parallel with controls is vital to assess and detect alternatively spliced forms. Moreover, nonsense-mediated mRNA decay (NMD) analysis plays an essential role in evaluating the naturally occurring transcripts during cDNA analysis and distinguishing them from other pathogenic variants' associated transcripts.info:eu-repo/semantics/publishedVersio

Fibrosis of Peritoneal Membrane, Molecular Indicators of Aging and Frailty Unveil Vulnerable Patients in Long-Term Peritoneal Dialysis

Peritoneal membrane status, clinical data and aging-related molecules were investigated as predictors of long-term peritoneal dialysis (PD) outcomes. A 5-year prospective study was conducted with the following endpoints: (a) PD failure and time until PD failure, (b) major cardiovascular event (MACE) and time until MACE. A total of 58 incident patients with peritoneal biopsy at study baseline were included. Peritoneal membrane histomorphology and aging-related indicators were assessed before the start of PD and investigated as predictors of study endpoints. Fibrosis of the peritoneal membrane was associated with MACE occurrence and earlier MACE, but not with the patient or membrane survival. Serum α-Klotho bellow 742 pg/mL was related to the submesothelial thickness of the peritoneal membrane. This cutoff stratified the patients according to the risk of MACE and time until MACE. Uremic levels of galectin-3 were associated with PD failure and time until PD failure. This work unveils peritoneal membrane fibrosis as a window to the vulnerability of the cardiovascular system, whose mechanisms and links to biological aging need to be better investigated. Galectin-3 and α-Klotho are putative tools to tailor patient management in this home-based renal replacement therapy.info:eu-repo/semantics/publishedVersio

Evaluation of Probable Sarcopenia’s Prevalence in Hospitalized Geriatric Patients Using Ishii’s Score

Background: Sarcopenia is defined as a progressive loss of skeletal muscle mass and strength related to age and comorbidities. Worldwide sarcopenia's prevalence varies between 10-40%, being associated with functional impairment, lower quality of life, and higher mortality. Sarcopenia can be estimated based on age, calf circumference, and handgrip strength (Ishii's formula). Early diagnosis is essential because treatment with nutritional support and rehabilitation programs can prevent complications. The aim of the study was to assess the prevalence of probable sarcopenia in hospitalized patients using Ishii's score and possible associated risk factors. Methods: We developed an observational prospective study in a medicine inpatient ward of a Central Hospital. We applied Ishii's formula to the patients admitted to the medical ward in December 2021 and January 2022. Patients should be aged 60 or above and able to collaborate with the tests. One year later, we analyzed re-hospitalization and mortality rates. Patients with edema of the lower limbs, who were not able to follow instructions, and who were admitted exclusively for symptomatic treatment were excluded. Results: Our final sample was 49 patients (55% males, mean age 78 ± 8.88 years). Only one patient had a previous diagnosis of sarcopenia. Estimated sarcopenia´s prevalence was 73.5% N=36), higher in men and people with three or more comorbidities. In the sarcopenic group, 77% had some degree of functional dependency and positive markers for malnutrition. After one year of follow-up, we found a higher mortality rate in the sarcopenic group (44.4% against 7.6%) and a higher number of re-hospitalizations (1.03 hospitalizations per patient, against 0.31). Conclusions: Our data showed that the prevalence of probable sarcopenia is high, but this pathology is still underdiagnosed. Traditional diagnosis is complex in some hospital settings and a simple tool such as Ishii's score can help to improve diagnostic rates. We suggest screening all patients at admission to provide early rehabilitation and nutritional support.info:eu-repo/semantics/publishedVersio

Wilson’s Disease: A Prevalence Study in a Portuguese Population

Introduction Wilson's disease (WD) is a rare and underdiagnosed genetic disorder caused by anomalous tissue copper deposition, and for which epidemiological studies, specifically in Portugal, are scarce. Objectives This study aimed to evaluate the prevalence and incidence of WD and provide a description of its main clinical and laboratory features. Methods A retrospective study was carried out, with a search between 1995 and 2015, of all patients with a minimum follow-up of three months and birth confirmed in the northern region of Portugal, with an estimated population of 3,689,682 inhabitants. Database collection was based on the Portuguese National Health Service's clinical coding system, relying on clinical data from 13 northern Portuguese hospitals, liver biopsy histology results, and hospital prescription records. Clinical and biochemical correlations were statistically assessed using chi-square, Mann-Whitney U, Friedman, and Wilcoxon tests. Results Over the 20-year period, a prevalence of 1:37.000 and an incidence of one per million person-year was found. A total of 94 patients were analyzed, with a slight male predominance (53%), the majority with the onset of clinical manifestations in pediatric age (56%), with a median age at diagnosis of 16.6 years (interquartile range of 12.3-20,.8 years). Most patients presented with predominant liver disease (54.8%), with more than a third with cirrhosis; mixed hepatic and neurological manifestations in 17.9%; and mainly neurological symptoms in 10.7% of the patients. Neurological impairment was strongly associated with delayed development of the manifestations of the disease (p = 0.001) and also a higher detection of Kayser-Fleischer rings (p < 0.001), present in 27.0% of the patients. Regarding therapy, penicillamine has been the most widely used, with adverse reactions reported in 24.8%. At six and 12 months after initiation of therapy, a significant decrease in liver enzymes was found (ALT: p = 0.002; AST: p = 0.002, respectively), but no significant reduction was observed in urinary copper excretion. Conclusion This was one of the first studies regarding WD prevalence in a Portuguese population, contributing to a better understanding of the epidemiology, diagnosis, and management of WD in the northern region of Portugal. WD should be considered in any individual with unexplained hepatic or neurological manifestations, and initial symptoms may manifest at an early age, even in children less than five years old. A high percentage of patients were identified in the early stages of the disease by asymptomatic elevation of transaminases. Following copper chelation therapy, cytolysis markers appear to be more sensitive indicators of treatment response.info:eu-repo/semantics/publishedVersio