Browsing by Issue Date, starting with "2023-06"
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- Uma Apresentação Atípica e Não-Cardíaca de Cardiomiopatia HipertróficaPublication . Alexandre, André; Roque, Carla; Sá, Isabel; Silveira, João; Torres, Severo
- A Rare Case of Mediastinal Mass: Thymoma and Thymic TumorPublication . Moura De Azevedo, Sofia; Baptista, Patrícia; Pichel, Rita C; Dias, Rita R; Bertão, ManuelaThymomas 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 radiotherapy
- Blunt Trauma and Right Diaphragmatic Rupture: Unveiling the ImpactPublication . Alves, Duarte Gil; Sousa, Jessica; Eurico Reis, João; Ribeiro, Rómulo; Calvinho, PauloTraumatic 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.
- A Challenge Called Ogilvie´s SyndromePublication . Soares Miranda, Luisa; Silva Gonçalves, Carla; Silva, Ezequiel; Ferreira, Álvaro; Araújo Correia, João; Cruz, Ana RitaOgilvie´s syndrome is a colonic dilation without any existing mechanical obstruction. The risk factors that cause it are not completely understood, but if untreated, the distension can result in rupture or ischaemic bowel perforation. Additionally, the existing guidelines do not agree with each other about the next steps if conservative treatment fails. We report the case of a 71-year-old woman in whom Ogilvie´s syndrome was particularly difficult to manage, and with it, we try to add clinical data to a field with scarce evidence.
- Metastatic Myoepithelial Carcinoma Ex Pleomorphic Adenoma of the Sublingual Salivary GlandPublication . Ferreira, Ângela T; Gonçalves, Joana; Ferreira, Andreia; Brandão, José Ricardo; Saleiro, RuteMyoepithelial carcinoma ex pleomorphic adenoma is a very rare malignant neoplasm of the salivary gland. Owing to its rarity, its clinical features and treatment are not well characterized. We describe a case of a patient who was referred to our department with a six-month history of a bulge on the right side of the floor of the mouth and a submandibular mass with progressive enlargement. The mass was resected, and an elective level I neck dissection was performed. Histological examination revealed myoepithelial carcinoma ex pleomorphic adenoma of the sublingual salivary gland. Thoracic computed tomography and biopsy revealed lung metastases. The patient died two years after the diagnosis
- Revisiting Scrofula: An Entity Not to Forget in Migrants’ HealthPublication . Neves, Sara; Videira Santos, FábioTuberculous 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 presented
- A Rare Cause of Abdominal Pain: IgG4-Related Sclerosing MesenteritisPublication . Pedroto, Isabel; Carvalho Sá, Diogo; Fonseca, Tomás; Pereira-Guedes, Tiago; Archer, SaraA 67-year-old man with previous cardiovascular disease was referred to our consultation due to a 5-month history of recurrent epigastric pain. Esophagogastroduodenoscopy and full blood workup presented no alterations. CT scan showed an irregularly shaped mass at the root of the mesentery, measuring 40x25x47mm, with spiculated contours and retractile behaviour (a). Simultaneous densification of the adjacent fat and infracentimetric ganglionic formations scattered throughout the mesentery were shown. Surgical biopsy revealed extensive storiform fibrosclerosis, with the presence of interstitial lymphoplasmocytic infiltrate and obliterative phlebitis (b); the plasma cells had mostly IgG expression, with IgG4:IgG ratio >40% (c), accounting for more than 30- 40 IgG4 plasma cells per field. The serum IgG4 level was 137mg/dL. A diagnosis of IgG4-related sclerosing mesenteritis was made, without other organ involvement. Prednisolone (0.6mg/kg/d) improved partially the abdominal pain, so steroid sparing strategy with off-label rituximab was associated. Due to its low prevalence, the understanding of this entity is scarce, and its diagnosis is challenging. Unlike other manifestations of IgG4-related disease, the intra-abdominal disease is identified in later stages, due to unspecific symptoms. This case aims to raise awareness about this condition as a differential diagnosis of abdominal pain.
- Perioperative Challenges of Heroin Addiction: A Case Report of Opioid-Free Anesthesia in Tongue Carcinoma Excision With Free-Flap ReconstructionPublication . Ameiro, Roberto J; Neves, Sara; Oliveira, Rita P; Marques, Beatriz B; Ferreira, Paulo-Roberto CAnesthesia for major head and neck surgery is historically heavily reliant on opioids with deleterious consequences. We reported a case of a patient with a history of heroin abuse submitted to a tongue carcinoma excision, followed by free-flap reconstruction under opioid-free anesthesia. We used a propofol total intravenous anesthesia and perfusions of ketamine, dexmedetomidine, lidocaine, and magnesium sulfate for analgesia, complemented by boluses of dexamethasone, acetaminophen, parecoxib, and metamizole. Hemodynamic needs of the procedure were addressed by titrating perfusions of sodium nitroprusside or dobutamine. The patient was weaned from the ventilator at the end of the surgery. Surgical outcomes were achieved and opioid-free analgesia allowed early reestablishment of bodily functions without compromise of adequate pain control. Anesthesia protocols for free-flap surgery still lack scientific evidence, especially in the context of substance abuse: opioid-sparing approaches seem a viable option, which requires further studies and familiarity by health care professionals
- Parental gonadossomatic mosaicism in HIVEP2-related intellectual disability and impact on genetic counseling–case reportPublication . Abreu, Maria; Branco, Tiago; Figueiroa, Sónia; Falcao Reis, Claudiantellectual development disorder, autosomal dominant 43 (MRD43) is an autosomal dominant disorder caused by heterozygous mutations in the HIVEP2 gene. In this report, we describe a case of a 4-year-old boy with global development delay, hypotonia, and dysmorphic features, in whom the finding of a heterozygous nonsense pathogenic variant in exon 5 of HIVEP2 [c.2827C>T p. (Arg943*)] through WES established a MRD43 diagnosis. Our patient's phenotype overlaps with other MRD43 descriptions in the literature. Unlike previously reported cases, where the condition was almost invariably de novo, the healthy mother in this case presented mosaicism for the pathogenic variant. Thus, the recurrence risk increased significantly from 1% to up to 50%. The description of a variant inherited for MDR43 is singular in the literature and this description highlights the importance of parental studies for accurate genetic counseling, particularly for family planning.