Revisiting Scrofula: An Entity Not to Forget in Migrants’ Health

Tuberculous lymphadenitis (TBL) is one of the most common presentations of extrapulmonary tuberculosis (EPTB). The particularity of this presentation is the difficulty in establishing a definitive diagnosis, as clinical manifestations and imaging may be unspecific. We describe a case of tuberculous cervical lymphadenitis in a young male from Pakistan, a high-burden tuberculosis country. We intend to raise awareness of this entity, given the high index of suspicion required to diagnose it, which can lead to delays in appropriate treatment, potentially increasing the morbidity and mortality of affected patients. Increased awareness is especially important in immigrants, in whom tuberculosis cases continue to increase, exposing the need for easy and equitable access to healthcare. A brief review of the subject is also presentedinfo:eu-repo/semantics/publishedVersio

A Rare Case of Mediastinal Mass: Thymoma and Thymic Tumor

Thymomas and thymic carcinomas are rare mediastinal neoplasms arising from thymic epithelial cells, and the presence of synchronous or metachronous primary thymic neoplasms in a single patient is an extremely rare event. Thymoma patients appear to have an inherent predisposition toward developing additional neoplasms. This additionally presents a diagnostic challenge, revealing the importance of multidisciplinary expertise to the management of these patients. This is a case report of a patient with a thymoma and thymic carcinoma, submitted to surgical resection and postoperative radiotherapyinfo:eu-repo/semantics/publishedVersio

Leigh Syndrome Spectrum: A Portuguese Population Cohort in an Evolutionary Genetic Era

Mitochondrial 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.info:eu-repo/semantics/publishedVersio

Type IX Superior Labrum Anterior and Posterior Lesion in a Professional Football Player: A Rare Pattern of Shoulder Instability in a Non-throwing Athlete

Anterior shoulder instability is the most frequent type of glenohumeral instability, especially among young athletes. Superior labral anterior-posterior (SLAP) injuries involve the superior glenoid labrum where the long head of the biceps tendon (LHBT) inserts. There is still some debate regarding the pathogenesis, clinical presentation, and treatment of these lesions. We report a clinical case of an 18-year-old male professional football player with a rare type IX SLAP lesion. Given the recurrence of instability after prior nonoperative management, surgical treatment was seen as the best option, and a pan-labral arthroscopic repair suture anchor fixation was performed. Three months after undergoing a personalized postoperative rehabilitation program, he was able to return to full sport with the same competitive level, and no recurrent instability or other symptoms were reported throughout the 18-month follow-up periodinfo:eu-repo/semantics/publishedVersio

Unilateral Vocal Fold Paralysis and Voice Therapy: Predictors of Long-Term Quality of Life

To date, little is known about the long-term predictors of quality of life (QoL) in unilateral vocal fold paralysis (UVFP). The main objective of this study was to evaluate the predictors of long-term QoL in UVFP patients submitted to voice therapy (VT) exclusively. Data from patients diagnosed with UVFP who followed a VT program between 2013 and 2019 were reviewed. Video laryngoscopy (VL) records were obtained at the beginning and at the end of VT. To assess QoL, Voice Handicap Index 30 (VHI-30) score was assessed in three temporal frames: before voice therapy (pre-VT), at the last VT session (post-VT), and in the present (cur-VHI). A longitudinal analysis was performed regarding the evolution of QoL and the factors influencing QoL through time were analyzed. Seventy-eight percent of patients had iatrogenic UVFP. The mean time of follow-up after VT was 3.942 years (range 6 months-7 years). There was a significant improvement in QoL through all time points (F (2,88)=72.179, p<0.001), with VHI-30 decrease from the baseline pre-VT to post-VT(p<0.001) and from post-VT to cur-VT (p=0.0013). In the iatrogenic UVFP population, patients starting VT earlier showed better long-term QoL (p=0.023). UVFP patients with dysphagia at presentation showed significantly worse QoL in the late follow-up (p=0.016). Hence, iatrogenic UVFP patients beginning VT rapidly may show better QoL in the future. Also, our results suggest that dysphagia at UVFP onset may predict higher morbidity later in life.info:eu-repo/semantics/publishedVersio

Risk of Residual Neoplasia after a Local-Risk Resection of Colorectal Lesions by Endoscopic Submucosal Dissection: A Multinational Study

Endoscopic submucosal dissection (ESD) in colorectal lesions is demanding, and a significant rate of non-curative procedures is expected. We aimed to assess the rate of residual lesion after a piecemeal ESD resection, or after an en bloc resection but with positive horizontal margins (local-risk resection-LocRR), for colorectal benign neoplasia. A retrospective multicenter analysis of consecutive colorectal ESDs was performed. Patients with LocRR ESDs for the treatment of benign colorectal lesions with at least one follow-up endoscopy were included. A cohort of en bloc resected lesions, with negative margins, was used as the control. A total of 2255 colorectal ESDs were reviewed; 352 of the ESDs were "non-curative". Among them, 209 were LocRR: 133 high-grade dysplasia and 76 low-grade dysplasia. Ten cases were excluded due to missing data. A total of 146 consecutive curative resections were retrieved for comparison. Compared to the "curative group", LocRRs were observed in lengthier procedures, with larger lesions, and in non-granular LSTs. Recurrence was higher in the LocRR group (16/199, 8% vs. 1/146, 0.7%; p = 0.002). However, statistical significance was lost when considering only en bloc resections with positive horizontal margins (p = 0.068). In conclusion, a higher rate of residual lesion was found after a piecemeal ESD resection, but not after an en bloc resection with positive horizontal margins.info:eu-repo/semantics/publishedVersio

Incidental Adrenal Masses: A Case Report of an Adrenal Oncocytoma

A 59-year-old woman underwent an abdominal and pelvic computed tomography (CT) scan to rule out non-obstructive urolithiasis. The patient was asymptomatic, with the exception of occasional bilateral low back pain. A physical examination did not reveal any notable findings. The CT scan revealed the presence of an incidental solid left adrenal lesion, which displaced the body of the pancreas and the left kidney. The lesion measured 7 cm × 6.5 cm and exhibited a rounded morphology with well-defined margins. It showed progressive and heterogeneous contrast uptake. Additionally, magnetic resonance imaging (MRI) was performed, confirming the presence of an adrenal lesion with intense and heterogeneous hypersignal on T2. The lesion also demonstrated heterogeneous and persistent enhancement in a dynamic study. Furthermore, there were some indistinct and non-specific hypointense areas identified on both T1 and T2 sequences. The lesion exhibited moderately restricted diffusion. Although the imaging features were non-specific, there were no indications of invasion or distant metastasis, which made a benign large adrenal mass the most likely diagnosis. Non-functioning pheochromocytoma, lipid-poor adrenal adenoma, as well as metastasis or primary adrenal carcinoma, were considered differential diagnoses. The patient underwent an elective adrenalectomy, during which the identified lesion was completely resected. The patient's postoperative recovery was uneventful, and she was discharged three days after the procedure. Subsequent histopathological evaluation revealed an oncocytic neoplasm of the adrenal cortex - specifically, an oncocytoma.info:eu-repo/semantics/publishedVersio

Repeat examinations in conventional radiology analysis

Introdução: A Radiologia Convencional é o método de primeira linha no diagnóstico de diversas patologias e avaliação da anatomia. A repetição de exames relaciona-se com o não cumprimento de critérios de boa realização que resultem em ausência/insuficiência de valor diagnóstico. A diminuição da taxa de repetição representa um fator importante na área da radiologia e da saúde comunitária, contribuindo para a diminuição da dose recebida pelos doentes e profissionais de saúde. O objetivo principal deste estudo foi determinar os exames de radiologia convencional mais suscetíveis de serem repetidos pelos técnicos de radiologia, e causas associadas. Métodos: Realizou-se um estudo analítico, observacional e transversal. Os dados foram colhidos através da aplicação online de um inquérito por questionário aos participantes no estudo. A população em estudo consistiu em técnicos de radiologia portugueses, licenciados em radiologia ou imagem médica e radioterapia, a exercer funções em Portugal ou no estrangeiro. Para o estudo de associações entre variáveis, utilizaram-se os testes estatísticos de Correlação de Pearson e Qui-quadrado da independência. Resultados: A amostra foi constituída por 228 participantes, dos quais 176 (77,2%) do sexo feminino, com média de idade de 33.93 (±10.37) anos e tempo médio de experiência profissional de10.58 (±10.34) anos. O exame ao joelho (61%) foi considerado pelos participantes como o mais provável de ser repetido, seguido do tórax (29.4%) e ombro (24.6%). Os participantes apontaram como erro técnico mais comum o posicionamento incorreto, sendo a não colaboração do doente, o principal fator preditor de erro técnico. Observou-se uma correlação negativa de fraca amplitude entre o tempo de experiência dos profissionais e a frequência com que repetem exames radiológicos. Conclusão: Os exames realizados ao joelho, ombro e tórax, são aqueles que apresentam maior taxa de repetição, sendo o erro mais comum o posicionamento incorreto do doente. O fator que mais contribui para o erro é a não colaboração do doente. Os participantes realçam a necessidade do desenvolvimento de programas de formação contínua e a introdução de pequenas pausas durante os turnos.info:eu-repo/semantics/publishedVersio

Lombalgia progressiva secundária a coleção epidural de líquor: uma complicação rara da punção lombar em adolescentes

Lumbar puncture is commonly performed in Pediatrics. Common complications include headache and mild pain at the puncture site. Uncommon complications after the procedure, such as epidural cerebrospinal fluid collection, have rarely been described in children and adolescents. The authors present the clinical report of an adolescent with symptomatic epidural cerebrospinal fluid collection following a non-traumatic lumbar puncture. Diagnosis (including magnetic resonance imaging findings), treatment, clinical course, and prognosis associated with epidural cerebrospinal fluid collection are reported.info:eu-repo/semantics/publishedVersio

Hemocultura positiva e sépsis neonatal – Casuística de cinco anos

Introduction: Neonatal sepsis remains a major cause of morbidity and mortality in pediatric age. Since the predominant causative microorganisms vary between regions and over time, it is crucial to know the local epidemiology. The aim of this study was to characterize patients with positive blood culture and clinical presentation of sepsis admitted to a Neonatology Unit and identify possible risk factors and implicated microorganisms and respective antimicrobial susceptibility patterns. Methods: This was a retrospective descriptive study of clinical data of patients admitted to the Neonatology Unit of a level II hospital with positive blood culture and clinical presentation of sepsis over five years (2014-2018). Results: Seventy-three culture-proven sepsis cases were identified, 51 (69.9%) of which corresponded to low-birth-weight neonates and 52 (71.2%) to preterm newborns. Most cases (60; 82.2%) concerned late-onset sepsis. The most frequent microorganisms identified were coagulase-negative Staphylococcus (55; 75.3%), mainly associated with late-onset sepsis. Group B Streptococcus and Escherichia coli were the most common microorganisms isolated in early-onset sepsis. No cases of methicillin-resistant Staphylococcus aureus were identified. Coagulase-negative Staphylococcus presented high resistance rates to beta-lactam antibiotics. Conclusions: The results retrieved from this study document the local epidemiology of neonatal sepsis and show a high frequency of late-onset sepsis associated with nosocomial pathogens. Coagulase-negative Staphylococcus spp. are resistant to the most commonly used antibiotics, with these cases requiring the use of vancomycin. It is crucial to implement effective guidelines to control and prevent nosocomial infections and reduce the incidence, morbidity, and mortality of neonatal sepsis, as well as the need for broad-spectrum antibiotics.info:eu-repo/semantics/publishedVersio