Recent publications
Objective:
Radical cystectomy (RC) with ileal conduit (IC) remains a main treatment for muscle-invasive bladder cancer (MIBC). Laparoscopy in this multistage surgery is quite demanding, so laparoscopic RC (LRC) with intracorporeal IC (IIC) is a technically exceptional procedure. We aim to simplify it, demonstrating our technique, step-by-step. We present a 4-port LRC with IIC and Bricker uretero-ileal anastomoses. The main difference is the immediate and complete posterior dissection, similar to the "Montsouris approach" for prostatectomy.
Materials and methods:
A 70-year-old man with a 5 cm MIBC was subjected to our demonstrated procedure.
Results:
The postoperative period was uneventful. Diet and ambulation: 2 days. Single-J stents removal: 4 weeks. MIBC N0 was confirmed. At 24 months, the patient is well, without complications (namely hydronephrosis or disease recurrence).
Conclusion:
LRC with IIC is demanding and requires laparoscopic expertise. However, if performed in a standardized fashion, as demonstrated through this case, and considering our center's experience, it seems feasible and safe with 4-port and standard material without a significant operative time increase, nor oncological or functional compromise.
Lyme disease is a tick-borne infectious disease caused by the spirochete Borrelia burgdorferi. Voiding dysfunction is a rare manifestation of neuroborreliosis with only a few cases reported. Here we describe a case of a 6-year-old male child with an acute urinary retention, paraparesis, and voiding difficulty in whom neuroborreliosis was diagnosed through serologic tests for antibodies, Western blot testing confirmation and intrathecal antibody synthesis. Magnetic resonance imaging (MRI) of the spine led to the diagnosis of acute transverse myelitis and a urodynamic study demonstrated detrusor areflexia. He received a 4-week course of intravenous ceftriaxone (2 g/d). The patient has recovered from the paraparesis but still suffers from a neurogenic bladder.
Background: Nonoperative treatment of acute appendicitis (NOTA) has been demonstrated to be a safe and effective approach in children, but when it fails can be associated with serious morbidity. Since 2012, our department has implemented NOTA as an option for uncomplicated cases of appendicitis.
Objective: We aim to analyse NOTA efficacy and safety and seek predictive factors for the success of this approach, enhancing patient selection.
Methods: Data from all patients with uncomplicated acute appendicitis who underwent NOTA between 2012 and 2022 were collected and analysed. Patients with complicated appendicitis, appendiceal mass, intraluminal appendicolith or inability to oral feed were excluded. NOTA failure was defined as no clinical improvement during treatment. Appendicitis recurrence was defined as a new acute appendicitis onset. Patients were divided into two groups: Successful versus Failure NOTA.
Results: A total of 114 patients were included. NOTA was successful in 89.5% of cases and failed in 10.5%. In the failure NOTA group (n=12) the ultrasonographic appendiceal diameter was significantly higher (p<0.001). A multivariable logistic regression analysis pointed the appendiceal diameter as a significant predictor of NOTA failure, with a cut-off of 8.6 mm obtained after a ROC curve analysis. The hospitalization length admission of the patients from the Failed NOTA group was significantly higher (median time of 4.5 days).
Conclusion: The criterion identified in this study—appendiceal size as measured by ultrasonography—may help minimize some of the failures and the associated morbidity in patients approached by NOTA.
Cerebral malaria is the most severe complication of Plasmodium falciparum infection. Left untreated, it is universally fatal. Coma is the clinical hallmark, emerging between the first and third days of fever. Adults typically present with mild cerebral edema, usually with a more favorable prognosis compared to the pediatric population. We present a case of a 48-year-old man with a recent travel to Angola who presented comatose on the second day of a febrile illness with clinical signs of cerebral herniation and diffuse cerebral edema and cerebellar tonsil ectopia on cranioencephalic computed tomography. He had a missed diagnosis on a first visit to the emergency department 2 days prior. The diagnosis of cerebral malaria was confirmed after the identification of the parasite in peripheral blood. He was admitted to an intensive care unit; however, progression to brain death was inevitable within a few hours. Malaria affects 5% of the world’s population. In Portugal, it has an incidence of 0.01 in every 1000 inhabitants, and all cases are imported. Despite its rarity in a nonendemic country, its severity alerts to the consideration of this syndrome in the etiologic workup of coma. The early recognition of the diagnosis is of major importance for the establishment of definitive treatment, as its timely administration has a crucial impact on the outcome.
Aim: Lung cancer is the most common cause of cancer death in Portugal. The Dutch–Belgian lung cancer screening (LCS) study (NELSON), the biggest European LCS study, showed a lung cancer mortality reduction in a high-risk population when being screened. In this study, the cost–effectiveness of LCS, based on the NELSON study protocol and outcomes, was evaluated compared with no screening in Portugal. Methods: The present study modified an established decision tree by incorporating a state-transition Markov model to evaluate the health-related advantages and economic implications of low-dose computed tomography (LDCT) LCS from the healthcare standpoint in Portugal. The analysis compared screening versus no screening for a high-risk population aged 50–75 with a smoking history. Various metrics, including clinical outcomes, costs, quality-adjusted life years (QALYs), life-years (LYs) and the incremental cost–effectiveness ratio (ICER), were calculated to measure the impact of LDCT LCS. Furthermore, scenario and sensitivity analyses were executed to assess the robustness of the obtained results. Results: Annual LCS with volume-based LDCT resulted in €558 million additional costs and 86,678 additional QALYs resulting in an ICER of €6440 per QALY for one screening group and a lifetime horizon. In total, 13,217 premature lung cancer deaths could be averted, leading to 1.41 additional QALYs gained per individual diagnosed with lung cancer. Results are robust based on the sensitivity analyses. Conclusion: This study showed that annual LDCT LCS for a high-risk population could be cost-effective in Portugal based on a willingness to pay a threshold of one-time the GDP (€19,290 per QALY gained).
STUDY QUESTION
What is the contribution of genetic defects in Portuguese patients with congenital hypogonadotropic hypogonadism (CHH)?
SUMMARY ANSWER
Approximately one-third of patients with CHH were found to have a genetic cause for their disorder, with causal pathogenic and likely pathogenic germline variants distributed among 10 different genes; cases of oligogenic inheritance were also included.
WHAT IS KNOWN ALREADY
CHH is a rare and genetically heterogeneous disorder characterized by deficient production, secretion, or action of GnRH, LH, and FSH, resulting in delayed or absent puberty, and infertility.
STUDY DESIGN, SIZE, DURATION
Genetic screening was performed on a cohort of 81 Portuguese patients with CHH (36 with Kallmann syndrome and 45 with normosmic hypogonadotropic hypogonadism) and 263 unaffected controls.
PARTICIPANTS/MATERIALS, SETTING, METHODS
The genetic analysis was performed by whole-exome sequencing followed by the analysis of a virtual panel of 169 CHH-associated genes. The main outcome measures were non-synonymous rare sequence variants (population allele frequency <0.01) classified as pathogenic, likely pathogenic, and variants of uncertain significance (VUS).
MAIN RESULTS AND THE ROLE OF CHANCE
A genetic cause was identified in 29.6% of patients. Causal pathogenic and likely pathogenic variants were distributed among 10 of the analysed genes. The most frequently implicated genes were GNRHR, FGFR1, ANOS1, and CHD7. Oligogenicity for pathogenic and likely pathogenic variants was observed in 6.2% of patients. VUS and oligogenicity for VUS variants were observed in 85.2% and 54.3% of patients, respectively, but were not significantly different from that observed in controls.
LARGE SCALE DATA
N/A.
LIMITATIONS, REASONS FOR CAUTION
The identification of a large number of VUS presents challenges in interpretation and these may require reclassification as more evidence becomes available. Non-coding and copy number variants were not studied. Functional studies of the variants were not undertaken.
WIDER IMPLICATIONS OF THE FINDINGS
This study highlights the genetic heterogeneity of CHH and identified several novel variants that expand the mutational spectrum of the disorder. A significant proportion of patients remained without a genetic diagnosis, suggesting the involvement of additional genetic, epigenetic, or environmental factors. The high frequency of VUS underscores the importance of cautious variant interpretation. These findings contribute to the understanding of the genetic architecture of CHH and emphasize the need for further studies to elucidate the underlying mechanisms and identify additional causes of CHH.
STUDY FUNDING/COMPETING INTEREST(S)
This research was funded by the Portuguese Foundation for Science and Technology (grant numbers PTDC/SAU-GMG/098419/2008, UIDB/00709/2020, CEECINST/00016/2021/CP2828/CT0002, and 2020.04924.BD) and by Sidra Medicine—a member of the Qatar Foundation (grant number SDR400038). The authors declare no competing interests.
Introduction
Psychological trauma is a significant public health concern with long-lasting effects on physical and mental well-being. Trauma-informed care is an approach to providing support and services that acknowledges and integrates an understanding of the pervasive impact of trauma on individuals. This review delves into the critical imperative of trauma-informed care within the realm of health services. Recognizing the pervasive impact of trauma on individuals’ physical and mental well-being, this REVIEW aims to explore existing literature, identify key objectives, and propose effective methods for implementing trauma-informed strategies in health services.
Objectives
To Review Existing Literature on Trauma: Conduct an review of the literature to comprehend the varied dimensions and consequences of trauma on individuals’ health; To Identify Key Principles of Trauma-Informed Care: Explore established principles of trauma-informed care, highlighting their relevance and applicability within health service settings; To Propose Implementation Strategies: Develop practical strategies for integrating trauma-informed care into health services, ensuring a comprehensive and sensitive approach to patient care.
Methods
A review of published articles, books, and reports related to trauma and trauma-informed care to establish a foundational understanding.
Results
Psychological trauma can have profound and multifaceted impacts on individuals, affecting their mental, emotional, and even physical well-being. The consequences of psychological trauma can vary widely based on the nature, severity, and duration of the traumatic experience, as well as individual factors such as resilience and support systems. Trauma-informed care aims to create an environment that is sensitive to the needs of those who have experienced trauma, and it is based on six key principles: safety, trustworthiness, peer support, collaboration, empowerment, and cultural competence. Healthcare providers need to understand trauma beyond the personal and acknowledge the cultural, historical, social, political, and structural trauma that impact individuals and communities across generations. This approach recognizes that there is a risk of retraumatization in social and health services, especially for minority communities.
Conclusions
This review underscores the pressing need for health services to adopt trauma-informed care strategies. By acknowledging the prevalence and impact of trauma on health outcomes, the healthcare sector can transition towards a more patient-centered and empathetic approach.
Disclosure of Interest
None Declared
Introduction
Philosophy of mind grapples with fundamental questions concerning the Consciousness, the Mind-body problem, the Identity, and Free will (as opposed to Determinism). In the context of psychiatry, this philosophical groundwork provides a conceptual framework for comprehending the intricate workings of the human psyche.
Objectives
We aim to discuss how the philosophical investigation of the mind influence and enhance psychiatrists understanding of psychiatric disorders and patient-centered care.
Methods
Review of the literature.
Results
Philosophy of mind explores what it means to be conscious and the nature of subjective experience. This includes questions about the “hard problem” of consciousness, that refers to the difficulty of explaining why and how physical processes in the brain give rise to subjective, first-person experiences (or qualia). The “hard problem” posits that even if we knew everything about the brain’s physical processes and how they relate to cognitive functions, we would still lack an explanation for why these processes give rise to subjective consciousness. Psychiatry often deals with individuals who experience disturbances in their subjective conscious experiences, so the “hard problem” perspective allows psychiatrists to appreciate the diversity of conscious experiences and to empathize with their patients’ unique mental worlds.
Related with the previous topic is the mind-body problem. The elucidation of this problem highlights the challenge of reconciling mental phenomena with neurobiological processes. Integrating philosophical notions of dualism, materialism, and emergentism into psychiatric practice is essential for addressing the holistic nature of mental health.
Concerning to philosophical perspectives on personal identity, questions about the continuity of identity, selfhood, and the role of narrative in shaping one’s sense of self contribute to a deeper understanding of disorders like dissociative identity disorder, borderline personality disorder and even psychosis.
Furthermore, philosophical discussions on free will and determinism are pertinent to psychiatric ethics and the treatment of individuals with behavioral disorders, informing the ethical considerations surrounding involuntary psychiatric hospitalization, medication administration, and the delicate balance between autonomy and paternalism in psychiatric care.
Conclusions
Philosophy of mind provides psychiatry with a rich conceptual landscape, offering insights into the nature of mental phenomena. As our understanding of the brain and consciousness continues to evolve, the philosophy of mind remains an evolving area of philosophical inquiry.
Disclosure of Interest
None Declared
Introduction
When reading about psychopathology what we find described are experiences similar to our own. Psychiatry deals with anguish, fear, motivation, choice, and many other aspects that makes us human. However, even though psychopathology is rooted in common human experience, mental disorders are often outside the experience of those who don’t suffer from it. Therefore, the distinction between normality and disease is central to psychiatry. The DSM proposes that mental disorders are necessarily linked to distress and/or impairment. However, it adds that the syndrome or pattern must not be an expectable response to an event - it excludes “normal” experiences and responses from the realm of mental illness. But how do we distinguish normal distress from illness? This review investigates how different meanings of normality can help us discern the fine line between mental illness and ordinary human experience.
Objectives
We intend to critically examine and compare different models of normality. Additionally, we seek to discern the implications of these models for distinguishing mental disorders from normal mental experiences.
Methods
Review of the literature.
Results
We analyzed definitions and models of normality throughout the literature and selected the most relevant ones according to their popularity and/or strength of argument. Different models of normality (e.g. Biostatistical, Process, Health, Ideal, Biological advantage, etc.) were examined and compared, and the conceptualization of mental disorder was examined through the lens of each of these frameworks. Our investigation reveals the multifaceted nature of normality, with different models offering unique perspectives on mental health. From statistical approaches to cultural considerations, each model contributes distinct criteria for distinguishing what is normal from what is illness. By synthesizing these results, we gain a comprehensive view of the factors influencing the conceptualization of normality in the context of mental health.
Conclusions
This review emphasizes the importance of adopting a nuanced, cautious and multifactorial approach when discerning mental disorders from normal experiences. Rather than relying on a singular definition, our analysis suggests that a comprehensive understanding of normality can help us to better discern what is normal and what is illness.
Disclosure of Interest
None Declared
Introduction
Cannabis is the most used recreational drug worldwide. Cannabinoids have long been known for their anti-emetic properties. Paradoxically, chronic cannabis consumption has been linked to inducing refractory nausea and vomiting, a condition called cannabinoid hyperemesis syndrome (CHS). CHS remains inadequately acknowledged by clinicians.
Objectives
Report a CHS case and discuss this syndrome’s diagnosis, pathophysiology, and management.
Methods
Collection of clinical information and review of the literature.
Results
We share the case of a 38-year-old male who repeatedly recured to the emergency department (ED) due to persistent vomiting, nausea, and abdominal pain. The patient had experienced similar intermittent episodes over the past 12 years. Interestingly, the use of hot showers provided symptomatic relief. Urine drug tests consistently showed positive results for cannabinoids. During acute phases, he required supportive treatment involving fluid therapy. Long-term treatment included cannabis abstinence. CHS is defined by episodic vomiting, following prolonged excessive cannabis consumption, which is alleviated by sustained cessation of cannabis. During the acute phase of the condition, patients often find relief using hot baths and showers, which is a common behavior observed. CHS-related complications encompass acute kidney injury and severe electrolyte disturbances. CHS can result in multiple ED visits, frequent hospitalizations, extensive diagnostic evaluations, and elevated healthcare expenditures. Although the exact pathophysiology of CHS remains unclear, some mechanisms have been proposed. These include reduced gastric motility by gastrointestinal cannabinoid receptors 1 (CB1) overriding, cannabinoid lipid buildup, endocannabinoid system dysregulation, dysregulated stress response, changes in thermoregulation, modifications in the transient receptor potential vanilloid system and genetic polymorphisms in the P450 system. In the acute phase, the foremost concern is providing supportive care including intravenous hydration and electrolyte corrections. The most effective treatment for CHS is cannabis cessation. Nevertheless, there are alternative treatments that have shown promise in alleviating symptoms, such as hot water hydrotherapy, topical capsaicin, haloperidol, benzodiazepines, propranolol and aprepitant.
Conclusions
As cannabis usage becomes increasingly prevalent, it becomes imperative for healthcare providers to acknowledge the long-term effects of cannabinoids, specifically regarding CHS. This diagnosis should be contemplated when evaluating patients who experience recurrent and incoercible vomiting coupled with a history of cannabis consumption. The compulsion to take hot baths or showers can serve as a noteworthy indicator for diagnosing CHS.
Disclosure of Interest
None Declared
Acute postsurgical pain (APSP) is an important risk factor for pain chronification, with reports of being more intense after total knee arthroplasty (TKA) than after total hip arthroplasty (THA). Psychological variables have been associated with differences in postsurgical pain experience. This study aimed to analyse the longitudinal reciprocal association between pain and anxiety levels in patients undergoing TKA or THA, to investigate the moderator role of the type of surgery and to explore psychological mediators in the anxiety – pain association.
Patients undergoing TKA ( n = 120) or THA ( n = 109) were evaluated before surgery and in the acute postsurgical period (48 h postsurgery). Presurgical assessment comprised sociodemographic, pain-related and psychological variables (anxiety, depression, pain catastrophizing, self-efficacy, optimism and satisfaction with life). Postsurgical assessment focused on pain frequency, pain intensity and anxiety. Longitudinal associations were explored using cross-lagged panel models that included the indirect effect paths through possible mediators (pain catastrophizing and depression). Multigroup analyses compared TKA and THA.
In the global sample, higher APSP was predicted by higher presurgical pain and worse presurgical anxiety. Multigroup analyses revealed that worse APSP was predicted by higher presurgical anxiety in patients undergoing TKA and by higher presurgical pain in patients undergoing THA. Furthermore, there was a positive significant indirect effect of pain catastrophizing, but not depressive symptoms, in the relationship between presurgical anxiety and APSP in THA. Anxiety and APSP are differently interrelated in TKA and THA. Psychological characteristics could be managed before surgery to favour better APSP control and potentially prevent pain chronification after total joint arthroplasty.
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