Santa Casa de São Paulo

Virtually all the nerve bundles of the anterior division of the lumbosacral plexus cross the pelvic cavity after emerging from the vertebral foramina. Laparoscopy provides optimal access and visualization to these nerve bundles due to the positive pressure, direct lighting, and magnification. Neuropelveology is a new field that has arisen from the development of such laparoscopic neurosurgical techniques. Anatomically, we divide the intrapelvic portions of the lumbosacral plexus into three groups: lateral (the genitofemoral nerve and the nerves lateral to the psoas muscle), distal (those fibers distal to the crossing of the internal iliac vein), and proximal (the nerve bundles proximal to the crossing of the internal iliac veins). In this chapter, we will describe the steps of the laparoscopic access to each of those nerve groups.

Introduction Intestinal tuberculosis (ITB) presents with clinical features that often mimic malignant or inflammatory diseases. Diagnosis is established through a combination of endoscopic, radiological, and pathological findings. Case A 76-year-old woman presented with acute, diffuse abdominal pain. Computed tomography (CT) of the abdomen revealed subocclusion due to wall thickening at the ileocecal transition. A colonoscopy biopsy showed ulcerated granulomatous lesions, with negative results for AFB. Enterography suggested the possibility of a neoplastic disease. Due to the subocclusion, the patient underwent a segmental right ileocolectomy and ileocolostomy with a double-barrel stoma. Histopathological analysis of the resected specimen, including frozen section examination, confirmed ITB. Conclusion The diagnosis of ITB is challenging due to its clinical, endoscopic, radiologic, and histopathologic features, which overlap with neoplasms and inflammatory bowel disease. Therefore, establishing an appropriate therapeutic approach requires the integration of multiple diagnostic findings.

Resumo O aneurisma do arco aórtico é geralmente assintomático, sendo diagnosticado incidentalmente através de exames como tomografia computadorizada, ressonância magnética ou ecocardiograma. O tratamento convencional envolve cirurgia por toracotomia, também podendo ser realizado o tratamento através da técnica endovascular. O artigo apresenta um relato de caso de um aneurisma complexo do arco aórtico com comprometimento da artéria subclávia esquerda. O tratamento foi iniciado através de uma derivação dos troncos supra-aórticos, carotídeo-carotídea e carotídeo-subclávia, seguida da ligadura das artérias carótida comum e subclávia esquerda. Em um segundo momento, foi necessária a confecção de um conduíte vascular cirúrgico com prótese de Dacron para acesso ao dispositivo de entrega da endoprótese no arco aórtico, devido ao calibre reduzido das artérias femorais e ilíacas externas. O caso destaca a evolução satisfatória de um caso de aneurisma do arco aórtico de anatomia complexa.

Aortic arch aneurysms are often asymptomatic, being diagnosed incidentally in tests such as computed tomography, magnetic resonance imaging, or echocardiogram. Conventional treatment involves thoracotomy surgery, although treatment can also be performed using endovascular techniques. This article presents a case report of a complex aneurysm of the aortic arch with involvement of the left subclavian artery. Treatment was initiated with debranching of the supra-aortic trunks by carotid-carotid and carotid-subclavian bypasses, followed by ligation of the common carotid and left subclavian arteries. A second procedure was then needed to construct a surgical vascular conduit using a Dacron graft to obtain access to the aortic arch for the stent graft delivery device, due to the narrow caliber of the external femoral and iliac arteries. This report illustrates a satisfactory outcome in a case of aortic arch aneurysm with complex anatomy.

Introduction Adamantinomatous craniopharyngioma (ACP) is a benign epithelial tumor of the sellar and suprasellar region, and in children, it usually presents with cysts and calcifications. Methods In this study, ACP samples were collected, and after enzymatic digestion of the calcified component of these tumors, which were placed in culture to isolate possible cellular components, in vitro and in vivo viability analysis and characterization were performed. Results ACP-calcified component cells cultured in vitro were established showing the doubling time in 2 days, confirmed by the 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide assay. Other analyses were carried out, such as ultrastructural characterization and the growth of ACP-calcified component cells in xenograft animal model by MRI monitoring. Immunocytochemistry detected cytokeratin-7 expression in the cytomembrane and cytoplasm of ACP-calcified component cells, confirming that the tumor mass established in the xenograft animal model comes from calcified component of ACP patients’ cell cultures which were squamous epithelial cells. Conclusions Thus, our results suggest that the calcifications present in ACPs have the capacity to generate a tumor, and we could only consider complete tumor excision when all calcifications have been removed. Therefore, these ACP-calcified component cell cultures may be important to study possible targets for drug therapies and help understand the progression mechanisms of this tumor and better control its spread.

Hereditary tumor predisposition syndromes pose a challenge for early detection and timely treatment of tumors. In von Hippel-Lindau disease, desirable personalized surveillance programs are lacking due to insufficient data on genotype-specific risk profiles of individual mutations. To describe neoplastic risk profiles for carriers of pathogenic and likely pathogenic VHL germline mutations, our observational study recruited 1350 participants from 40 centers worldwide. 432 different VHL germline mutations were observed, with p.Asn78Ser, p.Arg161Ter, p.Arg161Gln, p.Arg167Gln, p.Arg167Trp, and p.Tyr98His being the six most frequent, occurring in a total of 493 carriers (36.5%) and in ≥ 30 patients each. Age-related penetrance risks for retinal hemangioblastoma, central nervous system hemangioblastoma, renal cell carcinoma, pancreatic neuroendocrine tumors, and pheochromocytoma/paraganglioma in carriers of the most frequent VHL mutations were assessed. In addition, the number of organs affected, the frequency of surgery, and the outcome are reported. Pairwise comparisons of the age-dependent tumor penetrance of these 6 mutations showed that 47 out of 90 pairs were significantly different. The most significant associations were found in p.Tyr98His (n=19) followed by p.Arg161Ter (n=10). All pairwise comparisons of mutations affecting different codons showed at least one significant (p<0.05) difference, except for p.Asn78Ser vs. p.Arg161Ter. Thus, tumor risk varied by VHL mutation type and location, but did not differ between the truncating mutation p.Arg161Ter and the missense mutation p.Asn78Ser. Our study demonstrates the importance of mutation-specific phenotype prediction. With appropriate validation, the data have important implications for risk assessment and decision making in tumor prevention for carriers of the respective VHL mutations.

Background Respiratory Syncytial Virus (RSV) is a leading cause of severe respiratory infections in young children and older adults. Accurate RSV surveillance is essential to understanding its disease burden and evaluating vaccine impact. Methods We assessed the accuracy of ICD-10 coding for RSV hospitalizations in the Brazilian Hospital Information System (SIH) by linking it with the Severe Acute Respiratory Syndrome (SIVEP) notification system (2022–2023). Laboratory-confirmed RSV-positive and RSV-negative cases in SIVEP were used as the reference standard. Sensitivity and specificity were evaluated for ICD-10 definitions (RSV, RSV + J21 [Acute Bronchiolitis], RSV + Acute Respiratory Infection) overall and by age group (under 1 year, under 5 years, and over 60 years). The top 10 diagnoses of RSV-positive patients were also analyzed by age group. Results Among 15,169 RSV-positive patients linked to an SIH record, 73.0% were under 12 months old, 20.8% were 1-5 years old, 3.7% were 5-59 years old, and 2.5% were 60 + years. Acute bronchiolitis was the most common diagnosis overall (43.5%), particularly in infants (53.5%). In older adults, pneumonia due to unspecified microorganisms was most frequent (24.6%). Sensitivity improved with broader case definitions, such as, RSV + Acute Respiratory Infection (66.7%, 95%CI: 65.8–67.6 in infants; 23%, 95%CI: 18.9–27.6 in older adults). Specificity was higher in older adults (83.8%, 95%CI: 83.5–84.1) than in infants (45.1%, 95%CI: 44.4–45.6). Additionally, 40,701 RSV-positive notified cases lacked RSV-coded diagnoses in SIH. Conclusion Our study highlights the discrepancy between RSV-positive cases identified in SIVEP and those coded in the SIH database, reflecting limitations in ICD-10 coding, particularly in the older population. Reliance on symptomatic coding rather than confirmed diagnoses contributes to this issue. Accurate RSV identification is crucial, especially with new vaccines available. Improved diagnostic coding is essential for effective RSV surveillance and evaluating vaccine impact.

Several studies have investigated the efficacy of estrogen in age‐related diseases, showing promising results in several models of neurodegeneration, such as Alzheimer's disease. Animal and cellular models indicate that estrogen and related compounds can reduce the accumulation of amyloid plaques and tau protein, which are associated with Alzheimer's disease. Therefore, it is crucial to develop appropriate models to study the neuroprotective effects of estrogen, and three‐dimensional (3D) models have recently emerged as a viable alternative to animal testing. This study aimed to investigate the potential of 3D tauopathy models for drug testing, focusing on estrogen‐related signaling. The results demonstrate that a scaffold‐free neurospheroid with inducible tau protein expression allows for the observation of tau protein distribution throughout the spheroid. Moreover, the study found that the G‐protein‐coupled estrogen receptor antagonist, G15, reduced tau protein concentration in both 2D and 3D models. Thus, this study highlights the importance of estrogen‐related compounds in 3D cultures, which could facilitate investigations into the mechanisms of action and the neuroprotective role of estrogen in neurodegenerative diseases.

Purpose: to review the more relevant aspects of urogenital tuberculosis (UGT) and make recommendations about the diagnosis and treatment. Materials and methods: a literature review was conducted in the Pubmed, Embase and Scielo databases in search of studies on UGT in the past 60 years. A narrative review was performed concerning six topics of UGT diagnosis and treatment. Recommendations were made supported on degrees of evidence according to the modified GRADE system. Results: UGT suspicion occurs in persistent hematuria or pollakiuria with sterile pyuria; stenosis and/or thickening of the urinary tract; or chronic prostatitis or epididymitis. Urinary bacteriological tests have low sensitivity, and a negative test does not rule out UGT diagnosis. In ureteral stenosis, a double-J catheter or nephrostomy should be used early (up to 1 month) during pharmacological treatment and in single less than 2 cm stenosis endoscopic treatment may be attempted. Bladder augmentation with ileum, sigmoid or ileocecal segments should be performed when the contracted bladder capacity is less than 100 mL. Spontaneous voiding occurs in most patients after bladder augmentation. Conclusion: The diagnosis of UGT depends on a high degree of suspicion based on non-specific symptoms and radiological findings. Urinary bacteriological tests have low sensitivity, but even in the absence of diagnostic confirmation, treatment can be carried out through a combination of drugs for a period of six months. In the presence of ureteral stenosis or contracted bladder, complex but well stablished reconstruction procedures are necessary.

Substance use and the emergence of Novel Psychoactive Substances (NPS) present a significant public health challenge and diagnostic dilemma, particularly in the context of psychosis. The increasing availability of psychoactive substances among youth has led to a rise in Substance Use Disorders (SUDs), with profound implications for mental health. This paper explores the psychopathological distinctions between substance-induced psychoses (SIPs) and endogenous psychoses, such as schizophrenia, from a phenomenological perspective. We emphasize three key aspects: dissociation, mental automatism, and temporality, to elucidate the underlying mechanisms of these conditions. Dissociation, as a psychopathological organizer, is central to exogenous psychoses, particularly those triggered by NPS. This phenomenon leads to a fragmentation of consciousness, detachment from reality, and disintegration of identity, distinct from the spaltung observed in endogenous psychoses. The concept of mental automatism, as theorized by De Clerambault, is also explored, highlighting its role in the early stages of exogenous psychoses, where cognitive disruptions precede delusions and hallucinations. Furthermore, the temporal experience in SIPs is characterized by a disconnection from past and future, trapping individuals in an “eternal present.” This contrasts with the fragmented temporality observed in schizophrenia, where patients struggle to maintain a coherent narrative of their lives. The phenomenological approach provides critical insights into the clinical differentiation between SIPs and Primary Psychotic Disorders (PPDs), emphasizing the need for targeted interventions that address the specific temporal and cognitive disruptions in substance-induced conditions. In conclusion, this paper underscores the importance of integrating phenomenological psychopathology into clinical practice, particularly in the face of the evolving landscape of substance use and psychosis. Understanding the distinct psychopathological mechanisms underlying SIPs can inform more accurate diagnoses and effective treatments, ultimately improving patient outcomes in the context of this growing public health issue.

We aimed to explore the knowledge, attitude, and management of neonatal diabetes mellitus (NDM) among members of the International Society for Pediatric and Adolescent Diabetes (ISPAD). Members of the society were invited to complete an online questionnaire posted on the ISPAD website. We received 108 responses from 45 different countries. Of these, 103 were involved in NDM management. 87.9% of participants would start insulin at diagnosis, and 11% would prefer sulfonylurea (SU); 54.6% would start with an insulin pump, and 80.6% would use continuous glucose monitoring. Genetic testing was suggested by 97.2% (50.9% when diagnosis occurs up to 6 months, 15.7% up to 9 months, and 30.6% up to 12 months of age), while 79.6% routinely request it in clinical practice. Of the participants, 96.3% consider genetic testing necessary to identify children who can be treated with SU, and 26.9% would try SU before testing/obtaining results. Only 37% received specific training on NDM, while 44.5% felt less confident in managing patients with NDM. Incidence in the country of practice, participant's age, years of experience in the field, number of patients registered in the clinic, and number of patients with NDM followed up were associated with differences in answers. This survey offers the possibility of informing health providers about the awareness of different aspects of NDM management. Our results provide the opportunity to compare various aspects of diagnosis and treatment of NDM in different geographic areas. Continuous education is needed to boost physicians' confidence in managing patients with this rare form of diabetes.

Background Patients with neuromuscular diseases (NMDs) often face swallowing difficulties (dysphagia) as part of their condition. Objective To determine the prevalence of self-reported swallowing disorders in patients with rare NMDs and examine their correlation with related quality of life (QoL). Methods The study included 103 patients with confirmed rare NMDs. Dysphagia risk was assessed using the validated Eating Assessment Tool-10 (EAT-10), and QoL related to swallowing was measured with the SWAL-QoL survey. Correlations between EAT-10 and SWAL-QoL scores were analyzed. Additionally, the mean questionnaire scores were compared among patients classified as dysphagic, dysphagic with high aspiration risk, and nondysphagic. Results The estimated prevalence of dysphagia in the cohort, based on EAT-10, was 52.4%. Higher scores were significantly correlated with poorer swallowing-related QoL, except for the sleep domain. The most affected SWAL-QoL domains were burden, eating desire, eating duration, food selection, communication, fear, mental health, social functioning, and dysphagia battery score (DBS), with significant differences observed among the classifications ( p < 0.001 for most domains, and p = 0.015 for eating desire). No statistically significant difference in swallowing QoL was found between sitters and walkers. Conclusion Dysphagia is a prevalent symptom in patients with rare NMDs, affecting 52.4% of the cohort and significantly impacting QoL in nearly all domains except sleep.

Aim To assess the real-life, long-term effectiveness and safety of tofacitinib in a large cohort of patients with refractory or difficult-to-treat ulcerative colitis (UC). Methods This multicenter, retrospective, observational cohort study included patients with moderately to severely active UC who received tofacitinib for at least 8 weeks. Clinical remission and response, endoscopic response and remission, biochemical response and remission, steroid-free clinical remission, primary and secondary loss of response, drug discontinuation, the need for dose optimization, the need for colectomy, and adverse events were evaluated over up to 30 months. Results We included 127 patients with UC, with a mean age of 40.3 ± 14.2 years; 58.2% were male, 75.6% had pancolitis, and 79.5% had previously failed at least one biological therapy, predominantly anti-TNF agents (70.1%). Clinical remission was observed in 31.5% of patients at weeks 12–16, 46.5% at 26 ± 4 weeks, and 37.0% at 1 year. Steroid-free clinical remission was achieved in 28.6%, 44.8%, and 37.1% of patients at the same time points, respectively. Biochemical remission was achieved in 33.6% of patients at 26 ± 4 weeks and 29.3% at 1 year. Endoscopic response and endoscopic remission within 1 year were observed in 46.0% and 15.3% of patients, respectively. Ten patients (7.9%) required colectomy, and 13 patients (10.2%) required hospitalization, all of whom had been previously exposed to biologics. The colectomy rate was significantly greater in patients with serum albumin levels ≤ 3.5 g/dL (21.4% vs. 4.1%, p = 0.013). Conclusion In this large, long-term real-world study involving patients with predominantly biologically refractory UC, tofacitinib effectively induced clinical remission and endoscopic improvement and prevented colectomy for more than 30 months, with a favorable safety profile. Notably, baseline hypoalbuminemia was associated with higher colectomy rates.

BACKGROUND Cerebellar liponeurocytoma is a rare, low-grade neoplasm (WHO grade 2) characterized by neuronal or neurocytic differentiation and variable glial differentiation with lipoma-like alterations. First described in 1978 and recognized in the WHO classification in 2000, it presents significant challenges in radiological and pathological differentiation. This differentiation is crucial to avoid unnecessary or deleterious treatments. OBSERVATIONS The patient presented with symptoms including headache, dizziness, hiccups, nausea, vomiting, tinnitus, and left-sided ataxia. Imaging revealed a heterogeneous lesion in the left cerebellopontine angle. Resection was performed via a left suboccipital retrosigmoid approach, resulting in significant improvement in axial and appendicular ataxia, although left-sided anacusis persisted. Histopathological analysis confirmed cerebellar liponeurocytoma showing hypercellularity, with neurocytic cells containing lipid accumulations. Immunohistochemical analysis revealed diffuse expression of synaptophysin and focal expression of glial fibrillary acidic protein, with a Ki-67 proliferation index of 7%. LESSONS Cerebellar liponeurocytoma is a rare tumor requiring accurate histopathological differentiation to determine the appropriate treatment. Resection remains the mainstay of treatment, with postoperative radiotherapy potentially reducing recurrence. Multidisciplinary follow-up is crucial for managing residual symptoms and monitoring for recurrence. This case aligns with existing literature and underscores the importance of comprehensive diagnostic and therapeutic approaches to improve patient outcomes. https://thejns.org/doi/10.3171/CASE24521

Introduction The COVID-19 pandemic exacerbated mental health issues, particularly in vulnerable communities. Non-psychiatric interventions, including psychological emotional regulation, contemplative practices, and physical activity, can be powerful tools for improving mental health, especially in vulnerable populations. The present study evaluates the effect of a novel low-cost Socioemotional and Physical Activity Intervention in a Brazilian large vulnerable community during the pandemic’s final period. Materials and methods Participants were adults (18 to 60 years of age) that resided in the Paraisópolis, the third largest favela in Brazil. Recruitment was done through advertising via mobile messaging. Participants were divided into two groups, Intervention (Group I) or Waiting List Control (Group C). Group I participants underwent an in-person Multidimensional Intervention of 1 h per week, for 12 weeks, which was composed of socioemotional skills learning and moderate physical activities, while Group C maintained their usual daily routines. All participants were evaluated before (T0) and after (T1) the Intervention. The evaluation included four validated questionnaires to assess mental health (DASS-21, PANAS, WHO-5 and BRS), IPAQ for evaluating physical activity levels and a physical fitness assessment, which provided quantitative data. A semi-structured interview was also done, which provided qualitative data and was analyzed using a reflexive thematic analysis. Results Quantitative data was collected from 88 participants, 43 from Group I and 45 from Group C. We observed a reduction in the scores for depression (DASS−21; Mean difference between evaluations [MD] = −3.2 [± 1.13, SEM], p = 0.006) and negative affects (PANAS, MD = −2.7 [± 0.97], p = 0.012) observed only in the participants of the I group in T1 compared to T0, but not for the C group. We also found a reduction in systolic arterial blood pressure in hypertensive or pre-hypertensive participants after exercise (Group I n = 28; −7.0 [± 2.8] mmHg, p = 0.014), an increase in physical endurance (walk test, MD = +56.0 [±8.7] m, p < 0.001) and flexibility (sit and reach test, MD = +5.12 [±0.85] cm, p < 0.001) only in the I group on T1, compared to T0. The reflexive thematic analysis results suggest that the Intervention not only alleviated negative emotional states, such as anxiety and sadness, but also provided a notable enhancement in participant’s physical vitality, corroborating and complementing the quantitative analysis results. Conclusion The results presented here indicate that the Intervention presented here has the potential to reduce symptoms correlated with mental disorders and improve physical fitness in residents of a large vulnerable community.