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1.
Pediatr Transplant ; 28(1): e14680, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38149359

RESUMO

BACKGROUND: Berardinelli-Seip syndrome is an infrequently seen and potentially fatal genetic disorder characterized by the absence of adipose tissue. Herein, we report a first-in-literature liver transplant done on a 7-year-old girl because of liver cirrhosis caused by the Berardinelli-Seip syndrome. CASE REPORT: Physical examination showed prominent subdermal fat tissue loss and mild muscle hypertrophy, giving her a slim appearance, hirsutism, thick hair, a large head in contrast to the body, low anterior hairline, icterus, prominent facial contours, prominent mandibula, loss of buccal fat, low set ears, and large limbs. After the diagnosis, she admitted to our clinic because of variceal esophageal bleeding and increasing liver enzymes. Transplantation decision was made and orthothopic liver transplantation done by the surgery team. DISCUSSION: Common causes of death in Berardinelli-Seip syndrome patients are infections and liver cirrhosis. The mean age of the patients was 27.1 at the time of death. There is no any established cure for congenital lipodystrophies so far. However, some symptomatic treatment methods are found to be helpful. The main point of the case report to be discussed is the liver transplantation done by our surgical team. There are no examples of any transplantation in Berardinelli-Seip syndrome patients, but several reports can be found of patients with kidney or liver failure. CONCLUSION: Berardinelli-Seip syndrome is a rare disorder with no cure but a chance of improving lifestyle and life expectancy. The transplantation option should be considered in young patients after a multidisciplinary review.


Assuntos
Doenças Ósseas , Lipodistrofia Generalizada Congênita , Transplante de Fígado , Feminino , Humanos , Criança , Lipodistrofia Generalizada Congênita/diagnóstico , Lipodistrofia Generalizada Congênita/genética , Cirrose Hepática , Rim
2.
Eur J Nucl Med Mol Imaging ; 50(8): 2453-2465, 2023 07.
Artigo em Inglês | MEDLINE | ID: mdl-36905412

RESUMO

PURPOSE: Pafolacianine, a folate receptor alpha-targeted NIR tracer, has demonstrated clear efficacy in intraoperative molecular imaging-guided (IMI) lung cancer surgery. However, the selection of patients who would benefit from IMI remains challenging given the variability of fluorescence with patient-associated and histopathologic factors. Our goal in this study was to prospectively evaluate whether preoperative FRα/FRß staining can predict pafolacianine-based fluorescence during real-time lung cancer resections. METHODS: This was a prospective study conducted between 2018 and 2022 that reviewed core biopsy and intraoperative data from patients with suspected lung cancer. A total of 196 patients were deemed eligible, of whom core biopsies were taken from 38 patients and assessed for FRα and FRß expression by immunohistochemistry (IHC). All patients underwent infusion of pafolacianine 24 h prior to surgery. Intraoperative fluorescence images were captured with the VisionSense bandpass filter-enabled camera. All histopathologic assessments were performed by a board-certified thoracic pathologist. RESULTS: Of the 38 patients, 5 (13.1%) were found to have benign lesions (necrotizing granulomatous inflammation, lymphoid aggregates) and 1 had metastatic non-lung nodule. Thirty (81.5%) had malignant lesions, with the vast majority (23, 77.4%) being lung adenocarcinoma (7 (22.5%) SCC). None of the benign tumors (0/5, 0%) exhibited in vivo fluorescence (mean TBR of 1.72), while 95% of the malignant tumors fluoresced (mean TBR of 3.11 ± 0.31) compared to squamous cell carcinoma (1.89 ± 0.29) of the lung and sarcomatous lung metastasis (2.32 ± 0.09) (p < 0.01). The TBR was significantly higher in the malignant tumors (p = 0.009). The median FRα and FRß staining intensities were both 1.5 for benign tumors, while the FRα and FRß staining intensities were 3 and 2 for malignant tumors, respectively. Increased FRα expression was significantly associated with the presence of fluorescence (p = 0.01), CONCLUSION: This prospective study sought to determine whether preoperative FRα and FRß expression on core biopsy IHC correlates with intraoperative fluorescence during pafolacianine-guided surgery. These results, although of small sample size, including limited non-adenocarcinoma cohort, suggest that performing FRα IHC on preoperative core biopsies of adenocarcinomas as compared to squamous cell carcinomas could provide low-cost, clinically useful information for optimal patient selection which should be further explored in advanced clinical trials.


Assuntos
Adenocarcinoma , Carcinoma de Células Escamosas , Neoplasias Pulmonares , Humanos , Estudos Prospectivos , Neoplasias Pulmonares/diagnóstico por imagem , Neoplasias Pulmonares/cirurgia , Neoplasias Pulmonares/metabolismo , Ácido Fólico , Adenocarcinoma/patologia , Imagem Molecular/métodos
3.
Dev World Bioeth ; 2023 Aug 16.
Artigo em Inglês | MEDLINE | ID: mdl-37584521

RESUMO

Predatory journals and conferences are an emerging problem in scientific literature as they have financial motives, without guaranteeing scientific quality and exposure. The main objective of the ASGLOS project is to investigate the predatory e-email characteristics, management, and possible consequences and to analyse the extent of the current problem at each academic level. To collect the personal experiences of physicians' mailboxes on predatory publishing, a Google Form® survey was designed and disseminated from September 2021 to April 2022. A total of 978 responses were analysed from 58 countries around the world. A total of 64.8% of participants indicated the need for 3 or fewer emails to acquire a criticality view in distinguishing a real invitation from a spam, while 11.5% still have doubt regardless of how many emails they get. The AGLOS Study clearly highlights the problem of academic e-mail spam by predatory journals and conferences. Our findings signify the importance of providing academic career-oriented advice and organising training sessions to increase awareness of predatory publishing for those conducting scientific research.

4.
Dis Colon Rectum ; 65(1): e26, 2022 01 01.
Artigo em Inglês | MEDLINE | ID: mdl-34636785
5.
Cureus ; 15(11): e49698, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-38161871

RESUMO

Digestive disease-caused death rates are significantly high in the South Caucasus region. The latest Global Burden of Disease (GBD) data are a subject of discussion and should lead to serious steps to be taken. Azerbaijan, Armenia, and Georgia are three countries in the region with similar cultures but different roots. The problem seems to affect every country in the region with slightly different rates. It is crucial to start investigations into the detailed cause and to take serious steps in order to prevent digestive disease-caused deaths in the region. This letter aims to arouse awareness of the problem in the region.

6.
Cureus ; 15(8): e43498, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-37719579

RESUMO

A ciliated hepatic foregut cyst (CHFC) is a very uncommon cystic hepatic lesion that arises from an embryonic remnant of the foregut epithelium. CHFC is predominantly asymptomatic and is found incidentally. However, it can show various clinical presentations such as pain and weight loss. We present the case of a 17-year-old female who came to our hospital with complaints of right subcostal pain and abdominal discomfort and was diagnosed with CHFC by biopsy. Successful laparoscopic resection was performed due to the possibility of malignant transformation. Even though the majority of the patients are asymptomatic and cysts are commonly found incidentally, when the lesion has concerning features, they may need follow-up or resection due to rare reported cases of malignant transformation.

7.
F1000Res ; 12: 1374, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-38706640

RESUMO

Background: This study reviews the literature on gastric metastases (GM) in terms of diagnosis, treatment, and outcomes. The goal of this study was to provide clinicians with a reliable and beneficial source to understand gastric metastases arising from various primary tumors and to present the growing literature in an easily accessible form. Methods: Articles published in English language from implementation of MEDLINE and Cochrane databases until May 2022 were considered for the systematic review. Articles other than English language, letters to the editor, posters, and clinical images were excluded. Hematogenous and lymphogenic metastases were included whereas direct tumoral invasion and seeding were excluded. Articles and abstracts were analyzed and last selection was done after cross-referencing and by use of defined eligibility criteria. Results: In total 1,521 publications were identified and 170 articles were finally included totaling 186 patients with GM. The median age of patients was 62 years. Gynecologic cancer was the most common cancer type causing GM (67 patients), followed by lung cancer (33 patients), renal cancer (20 patients), and melanoma (19 patients). One of the main treatment methods performed for metastasis was resection surgery (n=62), sometimes combined with chemotherapy (ChT) or immunotherapy. ChT was the other most used treatment method (n=78). Also, immunotherapy was amongst the most preferred treatment options after surgery and ChT (n=10). Conclusions: As 172 case reports were screened in the systematic review from different journals, heterogeneity was inevitable. Some articles missed important information such as complete follow-up or clinical information. Moreover, since all of the included articles were case reports quality assessment could not be performed. Among 172 case reports reviewed, resection surgery was performed the most and was sometimes combined with ChT and immunotherapy. Further research about what type of treatment has the best outcomes for patients with gastric metastases is needed.


Assuntos
Neoplasias Gástricas , Humanos , Neoplasias Gástricas/patologia , Neoplasias Gástricas/terapia , Feminino , Imunoterapia/métodos , Masculino , Pessoa de Meia-Idade
8.
Cureus ; 14(8): e28110, 2022 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-36127997

RESUMO

Cysts are uncommon congenital lesions of the fetal penis. Fetal penile cysts can develop when epithelial cells become entrapped during the fusion of the labial scrotal folds. The spectrum of diagnoses varies from simple epidermal inclusion cysts and megalourethra to hypospadias. In our case, we present a penile cyst that appeared between the 16th and 24th weeks. There was no other congenital anomaly, and since the mother did not accept an amniocentesis, we could not learn the karyotyping findings. As there were no other signs of congenital anomalies on ultrasound, we decided only to follow up, and at the 24th week's control ultrasound, the cyst was completely resolved with no other imaging findings.

9.
Cureus ; 13(8): e17058, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-34522536

RESUMO

Rectus sheath hematoma (RSH) is an infrequent condition that occurs when epigastric arteries bleed into the rectus sheath and sometimes acts like an acute abdomen. In view of the fact that it is a rare case without specific clinic signs, misdiagnosis and use of invasive manipulations for patients are possible. A 27-year-old woman applied to our clinic with abdominal pain, weakness, and nausea. Acute abdominal pain was in the periumbilical region and physical examination revealed tenderness, rebound phenomenon, and local mass in the right periumbilical region. Rectus sheath hematoma was identified by magnetic resonance imaging. The cause in this case was abdominal trauma due to domestic violence. After the legal procedures, symptomatic treatment was prescribed to the patient. Interestingly in this case, we did not get to the diagnosis through history, we reached the history after diagnosis. Besides the treatment of the patient, maybe our team prevented further violence against a woman.

10.
Cureus ; 13(10): e18540, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-34754686

RESUMO

 Amastia refers to a condition where breast tissue, nipples, and areoles are congenitally absent, and it can affect one (unilateral) or both (bilateral) breasts. Congenital amastia is a rare condition with only 34 reported cases in the literature. In this case, we report a 17-year-old female with congenital unilateral amastia of the right breast. She came to our clinic due to a cosmetic view of this defect, which was bothering her, and greatly reducing the overall quality of her life. Our patient's physical examination revealed the absence of right breast, and there was no other obvious physical or anatomical abnormality. The defect was successfully reconstructed in three steps. Firstly, 200 cc adipose tissue was transferred under the skin before inserting the breast implant due to increasing the thickness between the skin and the nipple-areola. Secondly, after four months breast implant was inserted. Finally, the patient's right nipple-areola complex (NAC) was reconstructed with a skate flap.

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