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1.
Chirurgia (Bucur) ; 119(2): 184-190, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38743831

RESUMO

Background: Splenectomy has been performed for various indications from haematological diseases to benign cysts and tumours, and for splenic traumatic injuries. However, there has been a steady decline in splenectomies in the last 20 years. The aim of this study is to establish the reasons behind this decline in splenectomy and to analyse them based on indication, type of splenectomy, and manner of approach (open, laparoscopic or robotic). Material and Methods: This is a retrospective study of a single centre experience of all the splenectomies, both total and partial, performed in the Department of General Surgery of Fundeni Clinical Institute (Bucharest) between 2002 and 2023. Only surgeries for primary splenic diseases were selected, splenic resections as part of other major operations were not included. Results: Between 2002 and 2023, 876 splenectomies were performed in the Department of General Surgery of Fundeni Clinical Institute (Bucharest). Most splenectomies (n=245) were performed for immune thrombocytopenic purpura (ITP), followed by benign tumours and cysts (n=136), lymphoma (n=119), hypersplenism due to cirrhosis (n=107) and microspherocytosis (n=95). Other indications included myelodysplastic syndrome (n=39), trauma (n=35), thalassemia (n=22), leukaemia (n=18) and also there were 60 splenectomies that were performed for hypersplenism of unknown cause. There were 795 total splenectomies (TS) and 81 partial splenectomies (PS). There was a decline in the number of splenectomies both TS and PS for all these indications, most notably in the case of ITP, microspherocytosis and hypersplenism due to cirrhosis with no splenectomies performed for these indications since 2020. Conclusion: With the development of new lines of treatment, advances in interventional radiology and in surgery with the spleen parenchyma sparing options, the need for total splenectomy has been greatly reduced which is reflected in the decline in the number of splenectomies performed in the last 20 years in our clinic.


Assuntos
Laparoscopia , Procedimentos Cirúrgicos Robóticos , Esplenectomia , Esplenopatias , Humanos , Esplenectomia/métodos , Esplenectomia/estatística & dados numéricos , Estudos Retrospectivos , Laparoscopia/métodos , Romênia/epidemiologia , Procedimentos Cirúrgicos Robóticos/métodos , Resultado do Tratamento , Esplenopatias/cirurgia , Feminino , Masculino , Adulto , Pessoa de Meia-Idade , Púrpura Trombocitopênica Idiopática/cirurgia , Idoso , Linfoma/cirurgia , Hiperesplenismo/cirurgia , Hiperesplenismo/etiologia , Talassemia/cirurgia , Cistos/cirurgia
2.
An Sist Sanit Navar ; 47(2)2024 Apr 16.
Artigo em Espanhol | MEDLINE | ID: mdl-38725368

RESUMO

Primary stromal cysts of the iris are rare, often asymptomatic, and incidentally found entities. Treatment is usually indicated in cases of enlargement or complications. However, imaging tests are required to determine their cystic nature and make an accurate differential diagnosis with malignant tumors, as well as for long-term follow-up. Ultrasound biomicroscopy is the technique of choice, although in most centers anterior segment optical coherence tomography is a more accessible and available imaging modality. We present a case of primary stromal cyst of the iris with an atypical presentation to illustrate the diagnosis and initial follow-up using anterior segment optical coherence tomography and photographs, and the management of complications. Anterior segment optical coherence tomography may be useful in the initial study and follow-up of anterior non-pigmented lesions where the cyst can be fully seen.


Assuntos
Cistos , Doenças da Íris , Humanos , Cistos/diagnóstico por imagem , Masculino , Feminino , Tomografia de Coerência Óptica
4.
Diagn Pathol ; 19(1): 58, 2024 Apr 14.
Artigo em Inglês | MEDLINE | ID: mdl-38616252

RESUMO

BACKGROUND: Crizotinib, an oral first-generation tyrosine kinase inhibitor (TKI), is superior to systemic chemotherapy for the treatment of non-small cell lung cancer (NSCLC) with positive rearrangement of anaplastic lymphoma kinase (ALK). However, an increased incidence of renal and hepatic cysts has been reported in the patients on crizotinib treatment. CASE PRESENTATION: Here, we describe a case of a 71-year-old Chinese women developed multiple cystic lesions in kidney and liver during crizotinib treatment for the primary and metastatic NSCLC. The renal and hepatic cysts were noted by CT scan 3 months after crizotinib treatment, which were spontaneously and significantly regressed after stopping crizotinib. CONCLUSIONS: Based on literature review and our experience in this case report, we concluded that crizotinib-associated renal cyst (CARCs) has features of malignancy and abscess in radiographic imaging, and thus, pathological confirmation is necessary to avoid inappropriate treatment decision. In addition, to benefit the patients with progress-free survival (PFS), switching from crizotinib to alectinib is recommended for the treatment of NSCLC patients who developed CARCs.


Assuntos
Carcinoma Pulmonar de Células não Pequenas , Cistos , Doenças Renais Císticas , Neoplasias Pulmonares , Humanos , Feminino , Idoso , Carcinoma Pulmonar de Células não Pequenas/tratamento farmacológico , Carcinoma Pulmonar de Células não Pequenas/genética , Crizotinibe/efeitos adversos , Quinase do Linfoma Anaplásico/genética , Neoplasias Pulmonares/tratamento farmacológico , Neoplasias Pulmonares/genética , Doenças Renais Císticas/induzido quimicamente , Doenças Renais Císticas/diagnóstico , Doenças Renais Císticas/genética , Cistos/induzido quimicamente
5.
Radiologia (Engl Ed) ; 66 Suppl 1: S57-S60, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38642962

RESUMO

We present an uncommon case of a solitary fibrous tumor of the pleura with the appearance of an air-containing cystic mass. We discuss the differential diagnosis through the imaging findings, the hypothetical origins of the air component, and the possible relationship between the air component and the aggressivity of the tumor.


Assuntos
Cistos , Tumor Fibroso Solitário Pleural , Humanos , Tumor Fibroso Solitário Pleural/diagnóstico por imagem , Tumor Fibroso Solitário Pleural/patologia , Diagnóstico Diferencial
7.
Sci Rep ; 14(1): 9099, 2024 04 20.
Artigo em Inglês | MEDLINE | ID: mdl-38643310

RESUMO

To investigate the impact on the ovarian reserve after minimally invasive ovarian cystectomy using two platforms, the Da Vinci robotic system (Xi and SP) and the laparoscopic system. Patients underwent laparoscopic or Da Vinci robotic (Xi or SP) ovarian cystectomy for benign ovarian cysts between January 1, 2018, and December 31, 2022 at Guro Hospital, Korea University Medical center. We measured the change of AMH values (%) = [(postAMH - preAMH)] × 100/preAMH. No significant differences in preoperative age, cyst size, estimated blood loss during surgery, hemoglobin drop, length of hospital stay, adhesion detachment rate and cyst rupture rate were observed. However, the operative time was significantly shorter in the laparoscopic group than that in the robotic group (67.78 ± 30.58 min vs. 105.17 ± 38.87 min, p < 0.001) The mean preAMH and postAMH were significantly higher with the Da Vinci robotic group than with the laparoscopic group (preAMH: 5.89 ± 4.81 ng/mL vs. 4.01 ± 3.59 ng/mL, p = 0.02, postAMH: 4.36 ± 3.31 ng/mL vs. 3.08 ± 2.60 ng/mL, p = 0.02). However, the mean ΔAMH was not significantly different between two groups. ΔAMH also did not demonstrate significant differences among the three groups; laparoscopic, Xi and SP robotic. Even in the patient groups with preAMH < 2 and diagnosed with endometriosis, the ΔAMH did not show significant differences between the laparoscopic and robotic groups. The Da Vinci robotic system is no inferior to conventional laparoscopic systems in preserving ovarian function.


Assuntos
Cistos , Laparoscopia , Reserva Ovariana , Procedimentos Cirúrgicos Robóticos , Feminino , Humanos , Hormônio Antimülleriano , Cistectomia , Resultado do Tratamento
8.
Rev Esp Patol ; 57(2): 84-90, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38599741

RESUMO

The clinical presentation of enteric duplication cysts is dependent on the location of the cyst with symptoms varying from nausea and vomiting to abdominal distension, pain and perforation. Four patients were identified who were diagnosed with enteric duplication cysts within the period from 2019 to 2023. Three of the patients presented with signs of intestinal obstruction-abdominal distension and pain, while one had an antenatally detected abdominal mass. There were three boys and one girl with ages ranging from 4 months to 14 years. Three cases of ileal and one case of caecal duplication cyst were reported. Most of the cases showed ileal/caecal mucosa while one case demonstrated ectopic gastric mucosa. The treatment of these cysts includes surgical excision. Although radiological investigations help in arriving at a provisional diagnosis, the final diagnosis can be confirmed only after histopathological examination. Early treatment prevents complications and results in a good prognosis for the patient.


Assuntos
Cistos , Obstrução Intestinal , Criança , Feminino , Humanos , Masculino , Cistos/patologia , Íleo/patologia , Obstrução Intestinal/etiologia , Dor/complicações , Lactente , Pré-Escolar , Adolescente
9.
Planta ; 259(5): 121, 2024 Apr 14.
Artigo em Inglês | MEDLINE | ID: mdl-38615288

RESUMO

MAIN CONCLUSION: Upon systemic S. indica colonization in split-root system cyst and root-knot nematodes benefit from endophyte-triggered carbon allocation and altered defense responses what significantly facilitates their development in A. thaliana. Serendipita indica is an endophytic fungus that establishes mutualistic relationships with different plants including Arabidopsis thaliana. It enhances host's growth and resistance to different abiotic and biotic stresses such as infestation by the cyst nematode Heterodera schachtii (CN). In this work, we show that S. indica also triggers similar direct reduction in development of the root-knot nematode Meloidogyne javanica (RKN) in A. thaliana. Further, to mimick the natural situation occurring frequently in soil where roots are unequally colonized by endophytes we used an in vitro split-root system with one half of A. thaliana root inoculated with S. indica and the other half infected with CN or RKN, respectively. Interestingly, in contrast to direct effects, systemic effects led to an increase in number of both nematodes. To elucidate this phenomenon, we focused on sugar metabolism and defense responses in systemic non-colonized roots of plants colonized by S. indica. We analyzed the expression of several SUSs and INVs as well as defense-related genes and measured sugar pools. The results show a significant downregulation of PDF1.2 as well as slightly increased sucrose levels in the non-colonized half of the root in three-chamber dish. Thus, we speculate that, in contrast to direct effects, both nematode species benefit from endophyte-triggered carbon allocation and altered defense responses in the systemic part of the root, which promotes their development. With this work, we highlight the complexity of this multilayered tripartite relationship and deliver new insights into sugar metabolism and plant defense responses during S. indica-nematode-plant interaction.


Assuntos
Arabidopsis , Basidiomycota , Cistos , Tylenchoidea , Animais , Endófitos , Carbono , Açúcares
10.
BMC Ophthalmol ; 24(1): 164, 2024 Apr 16.
Artigo em Inglês | MEDLINE | ID: mdl-38622551

RESUMO

PURPOSE: To analyze the clinicopathological characteristics and surgical outcomes of patients with Wolfring gland ductal cysts (WGDCs). METHODS: A retrospective, consecutive, interventional comparative case series was performed over a period of 7 years. Data on demographic and clinical characteristics, pathological findings and outcomes of surgically excised cysts were collected. A comparison between the transconjunctival and transcutaneous approaches was also assessed. RESULTS: Forty-eight patients (48 eyelids) were included in the final analysis. The most common presenting symptom was painless eyelid swelling (81.3%). The median symptom duration was 11.5 months (IQR, 18.25). The upper eyelid was involved in 31 (64.6%) patients, 29/31 of whom had cysts in a medial or centromedial location. Forty-five (93.8%) cysts were bluish gray and transilluminable with clear contents on lid eversion and a median largest dimension of 22 mm (IQR, 8). A transverse conjunctival fibrotic band was observed along the proximal tarsal border in the cyst area in all patients. Signs of chronic trachoma were noted in 38 (79.2%) patients. Preoperative significant ptosis was present in 28/31 (90.3%) of the upper eyelid cysts. Thirty cysts (62.5%) were excised through the skin, and 18 cysts (37.5%) were excised transconjunctivally. Intraoperative cyst rupture, the need for conjunctival grafting and postoperative residual upper lid ptosis were significantly greater in the transconjunctival group (p = 0.009, p < 0.001, and p = 0.016, respectively). CONCLUSION: The present study highlights the clinicopathological characteristics of a relatively large series of surgically excised WGDCs. Transcutaneous excision of WGDCs has proven to be an effective treatment with fewer adverse sequelae than the transconjunctival approach.


Assuntos
Blefaroptose , Cistos , Humanos , Estudos Retrospectivos , Pálpebras/cirurgia , Pálpebras/patologia , Resultado do Tratamento , Cistos/cirurgia , Cistos/patologia
11.
BMJ Case Rep ; 17(4)2024 Apr 17.
Artigo em Inglês | MEDLINE | ID: mdl-38631815

RESUMO

Consensus-based recommendations are needed to better guide paediatric otolaryngologists in providing standardised care to children with sleep-disordered breathing (SDB). Here we present a unique case of vallecular cyst found during SDB workup in a patient in their middle childhood (6-12 years old). While the patient underwent successful cyst resection, he was noted to have a suspected recurrence 6 months later. Immediately prior to revision excision, repeat awake flexible fibre-optic laryngoscopy revealed complete resolution of the suspected recurrence. This case underscores the significance of performing a complete upper airway examination, including endoscopic examination, to identify structural and anatomical lesions in older children with SDB.


Assuntos
Cistos , Doenças da Laringe , Doenças Faríngeas , Síndromes da Apneia do Sono , Criança , Humanos , Adolescente , Doenças Faríngeas/cirurgia , Doenças da Laringe/cirurgia , Laringoscopia , Cistos/cirurgia
12.
Artigo em Chinês | MEDLINE | ID: mdl-38563179

RESUMO

Objective:To analyze and summarize the clinical characteristics, diagnosis, treatment and prognosis of benign upper airway space occupancy in infants. Methods:The clinical data of 141 cases with begin upper airway space from January 2012 to January 2022 were analyzed. Among them, 101 were male and 68 were female, the age is 0-3 years old. In which there were 24 newborns. The clinical characteristics, auxiliary examination and treatment results were summarized and analyzed. Results:The main clinical manifestations of 141 infants were dyspnea and/or laryngeal wheezing, including 116 cases of congenital cyst of tongue, 15 cases of hair polyps, 4 cases of nasopharyngeal second pharyngeal fissure cysts, 2 cases of congenital laryngeal cysts, 2 cases of pharyngeal bronchial cyst, 1 case of nasopharyngeal teratoma and 1 case of myofibroma. All the infants had completed the corresponding examination and treatment. The diagnosis was clear, and there was no missed diagnosis or misdiagnosis. Among them, 19 infants with congenital cyst of tongue were given cyst puncture to relieve dyspnea. 2 cases of congenital cyst of tongue recurred half a year after operaion, and then they underwent reoperation. The prognosis of the remaining infants were good. Conclusion:The most common occupying of benign upper airway space occupancy is cyst, and low-temperature plasma resection under endoscope is the main treatment method. Timely puncture therapy is also a safe and effective treatment for infants who are dyspnea and life threatening.


Assuntos
Cistos , Laringe , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Cistos/cirurgia , Dispneia , Nasofaringe , Recidiva Local de Neoplasia
13.
Asian J Endosc Surg ; 17(3): e13308, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38622489

RESUMO

Laparoscopic deroofing (LD) for giant liver cysts using indocyanine green (ICG) fluorescence imaging was performed in two patients: a 53-year-old man with a 26-cm, symptomatic cyst and a 50-year-old woman with a 13-cm, symptomatic cyst. ICG fluorescence imaging can be used to easily identify the boundary between the liver parenchyma and the liver cyst. No postoperative bile leakage was observed in both patients. ICG fluorescence imaging is expected to become a desirable procedure in LD for giant liver cysts to reduce the occurrence of perioperative complications.


Assuntos
Cistos , Laparoscopia , Hepatopatias , Masculino , Feminino , Humanos , Pessoa de Meia-Idade , Verde de Indocianina , Laparoscopia/métodos , Cistos/diagnóstico por imagem , Cistos/cirurgia , Cistos/complicações , Imagem Óptica , Fígado
14.
Med Arch ; 78(2): 170-173, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38566878

RESUMO

Background: Juvenile papillomatosis (JP) of the breast is a rare and benign proliferative disorder affecting young women. The affected patients tend to have an increased risk of breast cancer development during follow-up. Objective: This article aims to highlight a rare entity of breast disease, that harbor risk of breast cancer. Case Presentation: Here, we present 2 cases of JP in young females; the first case is a 13 year-old presented with spontaneous nipple discharge, while the other patient is a 24 year-old presented with a right breast lump. Both patients had a total excision of the breast lesions, revealing JP at histology. Discussion: Juvenile Papillomatosis is considered a clinicopathological entity and is usually misdiagnosed as fibroadenoma clinically and radiologically, which requires histological correlation. The histologic findings are well-defined (hyperplasia, papillomatosis, and multiple cysts with foamy histiocytes).The controversy in management between surgery and observation is because of insufficient knowledge about the direct relationship between JP and subsequent cancer. Conclusion: Considering the risk of developing breast cancer in JP, enrolling patients and their families in a close follow-up and surveillance program is crucial.


Assuntos
Neoplasias da Mama , Cistos , Papiloma , Adolescente , Feminino , Humanos , Adulto Jovem , Neoplasias da Mama/diagnóstico , Neoplasias da Mama/cirurgia , Neoplasias da Mama/patologia , Papiloma/diagnóstico , Papiloma/cirurgia , Papiloma/patologia
15.
Sci Rep ; 14(1): 7699, 2024 04 02.
Artigo em Inglês | MEDLINE | ID: mdl-38565866

RESUMO

Nasopalatine duct cysts are difficult to detect on panoramic radiographs due to obstructive shadows and are often overlooked. Therefore, sensitive detection using panoramic radiography is clinically important. This study aimed to create a trained model to detect nasopalatine duct cysts from panoramic radiographs in a graphical user interface-based environment. This study was conducted on panoramic radiographs and CT images of 115 patients with nasopalatine duct cysts. As controls, 230 age- and sex-matched patients without cysts were selected from the same database. The 345 pre-processed panoramic radiographs were divided into 216 training data sets, 54 validation data sets, and 75 test data sets. Deep learning was performed for 400 epochs using pretrained-LeNet and pretrained-VGG16 as the convolutional neural networks to classify the cysts. The deep learning system's accuracy, sensitivity, and specificity using LeNet and VGG16 were calculated. LeNet and VGG16 showed an accuracy rate of 85.3% and 88.0%, respectively. A simple deep learning method using a graphical user interface-based Windows machine was able to create a trained model to detect nasopalatine duct cysts from panoramic radiographs, and may be used to prevent such cysts being overlooked during imaging.


Assuntos
Cistos , Aprendizado Profundo , Humanos , Radiografia Panorâmica , Redes Neurais de Computação , Cistos/diagnóstico por imagem , Bases de Dados Factuais
16.
Parasit Vectors ; 17(1): 172, 2024 Apr 02.
Artigo em Inglês | MEDLINE | ID: mdl-38566124

RESUMO

BACKGROUND: Antigen detection in Taenia solium cysticercosis confirms viable infection in the intermediate host (either pig or human). The reference B158/B60 monoclonal antibody (mAb)-based Ag-enzyme-linked immunosorbent assay (ELISA) has acceptable levels of sensitivity and specificity in human neurocysticercosis with multiple brain cysts, although its sensitivity is lower in cases with single brain cysts, whereas in porcine cysticercosis the assay specificity is affected by its frequent cross-reaction with Taenia hydatigena, another common cestode found in pigs. Our group has produced 21 anti-T. solium mAbs reacting against antigens of the whole cyst, vesicular fluid, and secretory/excretory products, identifying TsW8/TsW5 as the most promising pair of mAbs for an Ag-ELISA. METHODS: We report the use of the TsW8/TsW5 Ag-ELISA to measure cysticercus antigen levels [expressed as optical density (OD) values] in two panels of sera collected from day 0 (baseline) to day 90 postinfection (PI) from pigs experimentally infected with T. solium (n = 26) and T. hydatigena (n = 12). At baseline and on days 28 and 90 PI, we used Bland-Altman (BA) analysis and Lin's concordance correlation coefficients (CCC) to determine the concordance between the TsW8/TsW5 and the B158/B60 Ag-ELISA. RESULTS: The TsW8/TsW5 Ag-ELISA was able to efficiently measure circulating antigen levels in T. solium-infected pigs, similar to that obtained with the B158/B60 Ag-ELISA. Almost all paired log-OD differences between assays were within the limits of agreement (LoA) in the BA analysis at baseline and on days 28 and 90 PI (92.3%, 100%, and 100%, respectively), and a high concordance of log-ODs between assays was also found (Lin's CCC: 0.69, 0.92, and 0.96, respectively, all P < 0.001). In pigs infected with T. hydatigena, almost all paired log-OD differences were within the LoA in the BA analysis, whereas the concordance of log-ODs between assays was low at baseline (Lin's CCC: 0.24) but increased on days 28 and 90 PI (Lins' CCC: 0.88 and 0.98, P < 0.001). CONCLUSIONS/SIGNIFICANCE: The TsW8/TsW5 Ag-ELISA recognizes antigens in pigs with T. solium cysticercosis and is highly concordant with the B158/B60 Ag-ELISA. However, its diagnostic use is hampered by cross-reactions with T. hydatigena, as in other mAb-based Ag-ELISAs.


Assuntos
Cisticercose , Cistos , Doenças dos Suínos , Taenia solium , Taenia , Animais , Humanos , Suínos , Cysticercus , Anticorpos Monoclonais , Doenças dos Suínos/diagnóstico , Cisticercose/veterinária , Ensaio de Imunoadsorção Enzimática/veterinária , Antígenos , Antígenos de Helmintos , Anticorpos Anti-Helmínticos
17.
Acta Neurochir (Wien) ; 166(1): 159, 2024 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-38557782

RESUMO

OBJECTIVE: Rathke cleft cysts (RCC) are benign lesions of the sellar region that require surgical treatment in case of visual deterioration or progression of the cyst. However, the natural course is often stable and asymptomatic. We aimed to investigate the characteristics of patients with cyst progression during follow-up (FU) and to compare the natural history of patients with RCC with patients who underwent surgery. METHODS: Patients with an MR morphologic cystic sellar lesion classified as RCC between 04/2001 and 11/2020 were included. Functional outcomes, including ophthalmologic, endocrinologic, and MRI data, were retrospectively analyzed and compared between surgically treated patients, patients on a "watch and wait" strategy (WWS), and patients on a WWS who underwent secondary surgery due to cyst progression. RESULTS: One hundred forty patients (median age 42.8 years) with RCC on MRI were identified. 52/140 (37.1%) underwent primary surgery. Of 88 patients (62.9%) with initial WWS, 21 (23.9%) underwent surgery for secondary cyst progression. Patients on the WWS had significantly smaller cyst volumes (p = 0.0001) and fewer visual disturbances (p = 0.0004), but a similar rate of hormone deficiencies (p = 0.99) compared with surgically treated patients preoperatively. Postoperatively patients suffered significantly more often from hormone deficiencies than WWS patients (p = 0.001). Patients who switched to the surgical group were significantly more likely to have preoperative T1 hyperintense signals on MRI (p = 0.0001) and visual disturbances (p = 0.001) than patients with continuous WWS. Postoperatively, these patients suffered more frequently from new hormonal deficiencies (p = 0.001). Endocrine and ophthalmologic outcomes in patients with primary and secondary surgery were comparable. Multivariate analysis showed that WWS patients were at a higher risk of requiring surgery for cyst progression when perimetric deficits (p = 0.006), hyperprolactinemia (p = 0.003), and corticotropic deficits (p = 0.005) were present. CONCLUSION: Surgical treatment of RCC may cause new hormonal deficiencies, which are rare in the natural course. Therefore, the indication for surgery should be carefully evaluated. Hyperprolactinemia and corticotropic deficits were significant indicators for a secondary cyst progression in patients with RCC. However, a significant amount of almost 25% of initially conservatively managed cysts showed deterioration, necessary for surgical intervention.


Assuntos
Carcinoma de Células Renais , Cistos do Sistema Nervoso Central , Cistos , Hiperprolactinemia , Neoplasias Renais , Humanos , Adulto , Estudos Retrospectivos , Cistos do Sistema Nervoso Central/diagnóstico por imagem , Cistos do Sistema Nervoso Central/cirurgia , Imageamento por Ressonância Magnética , Hormônios
18.
Orphanet J Rare Dis ; 19(1): 175, 2024 Apr 26.
Artigo em Inglês | MEDLINE | ID: mdl-38671465

RESUMO

Polycystic liver disease (PLD) is a rare condition observed in three genetic diseases, including autosomal dominant polycystic liver disease (ADPLD), autosomal dominant polycystic kidney disease (ADPKD), and autosomal recessive polycystic kidney disease (ARPKD). PLD usually does not impair liver function, and advanced PLD becomes symptomatic when the enlarged liver compresses adjacent organs or increases intra-abdominal pressure. Currently, the diagnosis of PLD is mainly based on imaging, and genetic testing is not required except for complex cases. Besides, genetic testing may help predict patients' prognosis, classify patients for genetic intervention, and conduct early treatment. Although the underlying genetic causes and mechanisms are not fully understood, previous studies refer to primary ciliopathy or impaired ciliogenesis as the main culprit. Primarily, PLD occurs due to defective ciliogenesis and ineffective endoplasmic reticulum quality control. Specifically, loss of function mutations of genes that are directly involved in ciliogenesis, such as Pkd1, Pkd2, Pkhd1, and Dzip1l, can lead to both hepatic and renal cystogenesis in ADPKD and ARPKD. In addition, loss of function mutations of genes that are involved in endoplasmic reticulum quality control and protein folding, trafficking, and maturation, such as PRKCSH, Sec63, ALG8, ALG9, GANAB, and SEC61B, can impair the production and function of polycystin1 (PC1) and polycystin 2 (PC2) or facilitate their degradation and indirectly promote isolated hepatic cystogenesis or concurrent hepatic and renal cystogenesis. Recently, it was shown that mutations of LRP5, which impairs canonical Wnt signaling, can lead to hepatic cystogenesis. PLD is currently treated by somatostatin analogs, percutaneous intervention, surgical fenestration, resection, and liver transplantation. In addition, based on the underlying molecular mechanisms and signaling pathways, several investigational treatments have been used in preclinical studies, some of which have shown promising results. This review discusses the clinical manifestation, complications, prevalence, genetic basis, and treatment of PLD and explains the investigational methods of treatment and future research direction, which can be beneficial for researchers and clinicians interested in PLD.


Assuntos
Cistos , Hepatopatias , Humanos , Hepatopatias/genética , Cistos/genética , Mutação/genética
19.
J Med Case Rep ; 18(1): 212, 2024 Apr 29.
Artigo em Inglês | MEDLINE | ID: mdl-38679699

RESUMO

INTRODUCTION: Non-pancreatic pseudocysts are rare lesions that typically form from the omentum and mesentery. These cysts have a thick fibrotic wall made up of fibrous tissue and may show signs of calcifications and inflammatory changes. The fluid inside them can vary, ranging from hemorrhage and pus to serous or sometimes chylous content. In most cases, these cysts appear as a result of trauma, surgery, or infection. CASE PRESENTATION: A 35-year-old male patient from Ethiopia presented with swelling in his lower abdomen that had been present for 2 years. Initially, the swelling was small but gradually increased in size. The patient experienced frequent urination but no pain or difficulty during urination, urgency, intermittent urination, or blood in the urine. The swelling was initially painless but became painful 2 months prior to his presentation. Abdominal computed tomography scans revealed a well-defined, lobulated peritoneal lesion measuring 16 × 12 × 10 cm, consisting primarily of fluid-filled cysts with a thick, enhancing wall and septa. Additionally, there was a large, heterogeneous enhancing soft tissue component measuring 8 × 6 cm. As a result, the cystic mass was surgically removed in its entirety with partial removal of the bladder wall, and the patient was discharged in an improved condition. CONCLUSION: Primary non-pancreatic pseudocysts are extremely rare lesions that must be differentiated from other possible causes of cystic lesions within the peritoneal or retroperitoneal regions. Surgeons should be aware of the potential occurrence of these lesions, which may have an unknown origin.


Assuntos
Tomografia Computadorizada por Raios X , Humanos , Masculino , Adulto , Cistos/diagnóstico por imagem , Cistos/cirurgia , Cistos/patologia , Doenças Peritoneais/diagnóstico por imagem , Doenças Peritoneais/cirurgia , Doenças Peritoneais/patologia , Doenças Peritoneais/diagnóstico , Resultado do Tratamento
20.
BMJ Case Rep ; 17(4)2024 Apr 29.
Artigo em Inglês | MEDLINE | ID: mdl-38684353

RESUMO

Maxillary sinus retention cysts (MRCs) are typically asymptomatic and require no treatment. An early 30s man presented with a decade-long history of severe left-sided chronic facial pain (CFP). Multiple prior treatments resulted in an edentulous patient with persistent pain. Imaging revealed a dome-shaped radiopaque change in the left maxillary sinus. History and clinical examination suggested persistent idiopathic facial pain, and doubts about the outcome of a surgical intervention were explained to the patient. Surgical removal of the MRC via lateral antrotomy led to complete symptom resolution of CFP. This case substantiates the importance of considering MRCs as a possible cause of CFP. It also emphasises the need for a systematic multidisciplinary approach in cases of unexplained CFP.


Assuntos
Dor Facial , Seio Maxilar , Doenças dos Seios Paranasais , Humanos , Masculino , Dor Facial/etiologia , Dor Facial/cirurgia , Seio Maxilar/cirurgia , Seio Maxilar/diagnóstico por imagem , Adulto , Doenças dos Seios Paranasais/cirurgia , Doenças dos Seios Paranasais/complicações , Doenças dos Seios Paranasais/diagnóstico por imagem , Mucocele/cirurgia , Mucocele/complicações , Mucocele/diagnóstico por imagem , Tomografia Computadorizada por Raios X , Cistos/cirurgia , Cistos/complicações , Cistos/diagnóstico por imagem , Resultado do Tratamento
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