Browsing by Issue Date, starting with "2023-09"
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- Adjuvant Hyperthermic Intravesical Chemotherapy in Intermediate- and High-Risk Non-muscle Invasive Bladder CancerPublication . Magalhães, Joana C; Sousa, Maria João; Basto, Raquel; Fraga, Teresa; Gomes, Inês; Fernandes, Catarina; Mariano, Mónica; Paulo, Judy; Madeira, Pedro; Sousa, GabrielaIntroduction: Non-muscle invasive bladder cancer (NMIBC) is a frequently diagnosed neoplasm, which is typically managed with transurethral resection of bladder tumor (TURBT) eventually followed by intravesical therapies. Bacillus Calmette-Guérin (BCG) is used as first-line adjuvant treatment in high- (HR) and intermediate-risk (IR) NMIBC, although, in the latter, mitomycin C (MMC) may also be used. Multiple limitations to the use of BCG encouraged the search for therapeutic alternatives. In this context, hyperthermic intravesical chemotherapy with MMC (HIVEC-MMC) emerged as a promising therapy in the adjuvant setting for NMIBC. The aim of our study was to evaluate the tolerability, compliance, and survival outcomes of HIVEC-MMC in patients with IR- and HR-NMIBC. Material and methods: This was a single-center retrospective analysis of IR- and HR- NMIBC patients who received HIVEC-MMC after TURBT between August 2018 and August 2022. Levels of risk stratification were defined using the European Association of Urology (EAU) criteria. The protocol consisted of four weekly HIVEC-MMC instillations (induction) followed by six monthly instillations (maintenance). The primary outcomes were to evaluate the tolerability and compliance with the HIVEC-MMC protocol and secondary outcomes were disease-free survival (DFS) and overall survival (OS). For the purpose of statistical analysis, methods of descriptive statistics, survival analysis (Kaplan-Meier estimation), and multivariate analysis (Cox regression, and binary logistic regression) were used. Results: Fifty-seven patients were enrolled with a median age of 67.9 (34.4-83.5) years old. In this cohort, 40 patients (70.2%) had primary tumors. At the time of referral for HIVEC-MMC, the majority of the patients had IR-NMIBC (n= 33, 57.9%). A total of 41 patients (71.9%) completed the HIVEC-MMC protocol. Disease recurrence and adverse events (AEs) were the most common reasons to stop the protocol. After a median follow-up of 31 months (95% CI, 5.0-54.0), 32 patients (61.4%) were disease-free, 22 (38.6%) experienced recurrent disease and six patients (10.5%) died, although only one death was directly attributable to bladder cancer. The median DFS was 42 months (95% CI, 28.0-56.0). Completion of the HIVEC-MMC maintenance phase protocol stood as a predictive factor for DFS (44 months, 95% CI 29.1-58.9 vs. 14 months, 95% CI 0.0-29.6, p < 0.001; HR 4.48, 95% CI 1.65-12.15). The median OS was not reached; the 24- and 48-month OS were 92.6% and 82.7%, respectively. EAU risk group, ECOG-PS, and completion of HIVEC protocol were found to be significant predictive factors of OS but lost their significance on multivariate analysis. However, if we exclude those who experienced recurrence during the maintenance phase protocol, treatment completion had a significant positive impact on OS (HR: 42.8, 95% CI 1.75-1045.072, p= 0.021). Conclusions: Our study suggests that HIVEC is a secure and well-tolerated treatment with promising efficacy data, making this therapeutic approach a feasible option in IR- and HR-NMIBC patients, mainly in those who cannot tolerate or have contraindications to BCG therapy, but also as an alternative during BCG shortages.
- Neuromuscular Blockade Monitoring: Having It but Knowing When Not to Trust ItPublication . Salvador, Sara; Frada, Rita; Campos, Matilde; Esteves, SimãoButyrylcholinesterase (BChE) is an enzyme involved in the degradation of depolarizing and non-depolarizing neuromuscular blocking agents (NMBA), such as succinylcholine and mivacurium, respectively. Its deficiency is inherited or acquired, and results in paralysis of skeletal muscles after NMBA administration. We report a case of a 32-year-old pregnant woman proposed for cesarean section. General anesthesia (GA) was induced using propofol and succinylcholine. The surgical procedure was uneventful but after 40 minutes, there was no reversal of neuromuscular block (NMB). Other differential diagnoses were excluded and a deficit of BChe was assumed. When the train-of-four ratio (TOFr) achieved 40%, neostigmine/atropine led to the slow recovery of NMB up to TOFr 88%. The patient was extubated, but ventilation proved ineffective, so GA was induced and the patient was reintubated. A new measurement found a TOFr of 60%. Sedation and ventilatory support were maintained until the complete reversal of NMB (4 hours after succinylcholine). Prolonged block is a rare but serious complication of the use of succinylcholine in patients with BChE deficiency. This report not only highlights the importance of intraoperative NMB monitoring in homozygotic patients for atypical cholinesterase but also raises awareness for its careful interpretation
- Leigh Syndrome Spectrum: A Portuguese Population Cohort in an Evolutionary Genetic EraPublication . Baldo, Manuela Schubert; Nogueira, Célia; Pereira, Cristina; Janeiro, Patrícia; Ferreira, Sara; Lourenço, Charles M.; Bandeira, Anabela; Martins, Esmeralda; Magalhães, Marina; Rodrigues, Esmeralda; Santos, Helena; Ferreira, Ana Cristina; Vilarinho, LauraMitochondrial diseases are the most common inherited inborn error of metabolism resulting in deficient ATP generation, due to failure in homeostasis and proper bioenergetics. The most frequent mitochondrial disease manifestation in children is Leigh syndrome (LS), encompassing clinical, neuroradiological, biochemical, and molecular features. It typically affects infants but occurs anytime in life. Considering recent updates, LS clinical presentation has been stretched, and is now named LS spectrum (LSS), including classical LS and Leigh-like presentations. Apart from clinical diagnosis challenges, the molecular characterization also progressed from Sanger techniques to NGS (next-generation sequencing), encompassing analysis of nuclear (nDNA) and mitochondrial DNA (mtDNA). This upgrade resumed steps and favored diagnosis. Hereby, our paper presents molecular and clinical data on a Portuguese cohort of 40 positive cases of LSS. A total of 28 patients presented mutation in mtDNA and 12 in nDNA, with novel mutations identified in a heterogeneous group of genes. The present results contribute to the better knowledge of the molecular basis of LS and expand the clinical spectrum associated with this syndrome.
- Acute Fulminant Cerebral Edema in a Child With Suspected MeningoencephalitisPublication . Monteiro, Sara; Teixeira, Beatriz; Fraga, Carolina; Dias, Andreia; Cardoso, Ana Lúcia; Meireles, Daniel; Sarmento, Alzira; Ferreira, Paula Regina; Silva, João; Garrido, Cristina; Gonçalves, SaraAcute fulminant cerebral edema (AFCE) is a recently identified encephalitis type associated with significant morbimortality. Described as rare, limited data exists on its early detection and treatment. This paper describes a case of AFCE that progressed to unresponsive intracranial hypertension. A previously healthy four-year-old boy presented with fever, myalgias, and neurological symptoms. Diagnostic assessments showed cerebrospinal fluid abnormalities, and despite medical interventions, his condition deteriorated rapidly and developed severe cerebral edema and herniation within 24 hours. A decompressive craniectomy was attempted to decrease intracranial pressure, without success. This case emphasizes the urgency of early AFCE recognition and effective management strategies given its severe prognosis, aiming to improve understanding and spur further research
- A Case Report of Extreme Oral Lesions: A Rare Indicator of Bullying-Associated Non-suicidal Self-InjuryPublication . Quitério, Anabela; Mendes Abreu, João; Saura, André; Borges, Maria Inês; Corte Real, AnaBullying has reached epidemic proportions, affecting one in three students worldwide. A pervasive issue that carries profound physical, mental, and social consequences, significantly increasing the risk of non-suicidal self-injury (NSSI) and suicidal behaviors among those who experience this type of harassment and hazing. While physicians and most caregivers are fully aware and competent in identifying signs of self-harming behavior such as scratching, cutting, or burning the skin, oral self-injury is often overlooked as a potential indicator and is associated with unintentional soft tissue biting or specific conditions. We present a rare case of a 14-year-old male who sought medical attention due to severe bilateral tongue ulcers, leading to his admittance to the emergency department (ED) with excruciating pain and feeding difficulties. In the reported case, although the traumatic biting of the tongue emerged as the most probable etiological factor, a specific underlying motive and contextual comprehension were initially absent. It was only after successfully establishing a foundation of trust with the patient, enabling an honest response, that it became evident that the observed lesions represented a manifestation of bullying-induced non-suicidal self-injury. However, patients rarely openly acknowledge intentional self-inflicted lesions and/or their experiences of bullying, underscoring the necessity to maintain vigilance for alternative indicators such as behavioral changes or a noticeable decline in academic productivity. The significance of this case also goes beyond its presentation, highlighting the largely unexplored issue of how a patient's dentofacial features can serve as substantial catalysts for bullying. Therefore, it is only through equally prioritizing awareness of uncommon signs, symptoms, and context that one can expedite early diagnosis and intervention, emphasizing the essential need for comprehensive and timely management of such cases.
- Ischiopubic Ramus Resection as Treatment for Giant Cell Tumor of the Bone: Surgical Techniques in Two Clinical CasesPublication . Sousa, Diogo; Pita, Sérgio; Oliveira, Vânia; Cardoso, PedroGiant cell tumors (GCTs) of the ischium are rare and often diagnosed at an advanced stage. In fact, there is no defined treatment algorithm to treat this lesion. We present two case reports of Campanacci's stage three ischiopubic GCT confirmed with biopsy. They were effectively treated with excision of the ischiopubic ramus, aggressive curettage, drilling, and phenolization at the margins. The surgery was performed in a gynecological position with an approach over the ischiopubic ramus. Both cases present no recurrence (two and 10-year follow-up), and neither has a significant impact on the quality of life. A thorough plan and surgical technique were essential for the success of this intervention.
- Five years of universal newborn hearing screening: An incidence studyLeal, Bárbara; Lopes, Ana Cristina; Peixoto, Daniela; Correia, Laura; Almiro, Maria Miguel; Vilar, João; Azevedo, Maria Luísa; Bicho, Maria AdelaideIntroduction: Universal newborn hearing screening (UNHS) is an essential tool for early diagnosis and prognosis of hearing loss. The aims of this study were to estimate the incidence of sensorineural hearing loss (SNHL) in the Baixo Vouga region, to evaluate the importance of first-degree parental consanguinity (FDPC) as a risk factor for hearing loss in the UNHS program of Centro Hospitalar do Baixo Vouga (CHBV), and to determine the quality of hearing screening program and the main difficulties experienced in its implementation. Methods: Retrospective incidence study of all newborns born in a level II hospital between 2014 and 2018. According to the presence or absence of risk factors (RF) for early childhood hearing loss, each newborn was included in one of two groups: with RF and without RF. FDPC was included in addition to the recommended RF. All newborns underwent hearing screening. Those with abnormal screening or with RF also performed diagnostic audiologic evaluation.Results: Eight thousand seven hundred and twenty-seven newborns were evaluated, of whom 90.88% had no RF. The incidence rate of SNHL was 2.4/1000 infants without RF and 27.6/1000 infants with RF. Screening had an effectiveness of 99.86%, a false positive rate of 0.34%, and a referral rate to an otolaryngologist of 1.24%. FDPC was the third most common RF and the first in infants with SNHL. The missed diagnostic evaluation rate was 44.56%.Discussion: The reported incidence of SNHL is similar to that reported in the literature. The CHBV UNHS program meets national guidelines for quality screening. FDPC is an important RF in this population. The rate of missed diagnostic evaluations was identified as a priority area for improvement.
- Serotonin selective reuptake inhibitors and suicide risk in a Portuguese adolescent sampleDuarte, Nuno; Amaral, Sarah; Abrantes, MartaBackground: The adolescent population is at high risk for depressive disorders, and suicide is a leading cause of death in this age group worldwide. Selective serotonin reuptake inhibitors (SSRIs) remain the only approved pharmacological approach, despite concerns about suicidality.Objectives: This study aimed to understand the relationship between antidepressant use and suicidality in an adolescent population from an Adolescent Psychiatric unit in Lisbon, Portugal. Methods: A total of 296 medical reports of adolescent patients with depressive symptoms in psychiatric follow-up at the considered unit were reviewed. Two demographically and clinically similar samples were obtained, one exposed to SSRI treatment and one control group. Results: A risk of suicide attempt of 0.006 was found in the group exposed to SSRIs versus 0.025 in the control group, corresponding to a relative risk of suicidality of 0.248. This difference did not reach statistical significance, despite a Bayes factor of 4.57 and a Pearson’s r of -0.078. Conclusions: The study results suggest that SSRIs do not increase the risk of suicide attempt in adolescents with depressive symptoms.
- Nijmegen breakage syndrome: The importance of follow-upLeite, Sara; Lemos, Cláudia; Dias, Rita; Faria, Raquel; Marques, LauraNijmegen breakage syndrome (NBS) is a rare genetic disorder caused by mutations in the NBN gene, which is inherited in an autosomal recessive pattern. The condition results in inadequate DNA repair and is characterized by immunodeficiency with recurrent sinopulmonary infections, increased radiosensitivity, and predisposition to malignancy, particularly of lymphoid origin. The main clinical feature is progressive and severe microcephaly, which affects the facial phenotype, characterized by prominent midface, sloping forehead, and retrognathia. Mild to moderate intellectual impairment is often present and female patients usually develop primary ovarian failure. The diagnosis requires a high index of suspicion and is confirmed by molecular genetic testing. Herein are presented two cases of Nijmegen breakage syndrome followed in a tertiary center.
- Feeding and eating difficulties in early childhood – Characterization of a child psychiatry consultationCarvalho e Marques, Pedro; Monteiro, Maria do Rosário; Rodrigues, Márcia; Fernandes, Graça; Martins, VâniaIntroduction: Feeding difficulties in early childhood are among the most common problems reported by parents and may reflect the child’s own characteristics or a relational problem. They are associated with problems in later life, such as behavioral disorders, cognitive deficits, and eating disorders. Materials and Methods: This study was a retrospective, descriptive analysis of sociodemographic and clinical data of children under six years of age with feeding or eating problems evaluated at a first consultation in a child psychiatry unit of a tertiary hospital between January 2019 and May 2021. Children with a diagnosis or suspected diagnosis of autism spectrum disorder were excluded. Results: Of a total of 647 children evaluated, 57 (8.81%) were classified as having feeding difficulties. Their median age was 24.5 months. Food selectivity was the most frequently reported problem (45.6%), followed by difficulties in self-regulation at mealtimes (43.9%) and decreased appetite (33.3%). Among the mothers, 21% had a history of depressive disorders and 7% had a history of anxiety disorders.Forty-nine percent of children had patterns of interaction with their primary caregiver that were considered worrisome or disruptive. Fifty-four percent of the therapeutic interventions provided were child-parent psychotherapy.Conclusions: Early identification and intervention are needed for children with feeding problems. Feeding problems are common in early childhood and a multidisciplinary approach must always be considered as they can affect several domains of the child’s health and development.