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1.
Am J Gastroenterol ; 119(7): 1235-1271, 2024 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-38958301

RESUMO

Focal liver lesions (FLLs) have become an increasingly common finding on abdominal imaging, especially asymptomatic and incidental liver lesions. Gastroenterologists and hepatologists often see these patients in consultation and make recommendations for management of multiple types of liver lesions, including hepatocellular adenoma, focal nodular hyperplasia, hemangioma, and hepatic cystic lesions including polycystic liver disease. Malignancy is important to consider in the differential diagnosis of FLLs, and healthcare providers must be familiar with the diagnosis and management of FLLs. This American College of Gastroenterology practice guideline uses the best evidence available to make diagnosis and management recommendations for the most common FLLs.


Assuntos
Adenoma de Células Hepáticas , Cistos , Hiperplasia Nodular Focal do Fígado , Hemangioma , Hepatopatias , Neoplasias Hepáticas , Humanos , Hiperplasia Nodular Focal do Fígado/diagnóstico , Hiperplasia Nodular Focal do Fígado/patologia , Neoplasias Hepáticas/diagnóstico , Neoplasias Hepáticas/patologia , Neoplasias Hepáticas/terapia , Neoplasias Hepáticas/diagnóstico por imagem , Hepatopatias/diagnóstico , Hepatopatias/terapia , Hepatopatias/diagnóstico por imagem , Hepatopatias/patologia , Hemangioma/diagnóstico , Hemangioma/terapia , Hemangioma/patologia , Hemangioma/diagnóstico por imagem , Cistos/diagnóstico , Cistos/diagnóstico por imagem , Cistos/patologia , Adenoma de Células Hepáticas/diagnóstico , Adenoma de Células Hepáticas/patologia , Adenoma de Células Hepáticas/terapia , Adenoma de Células Hepáticas/diagnóstico por imagem , Diagnóstico Diferencial , Gastroenterologia/normas , Carcinoma Hepatocelular/diagnóstico , Carcinoma Hepatocelular/patologia , Carcinoma Hepatocelular/terapia , Carcinoma Hepatocelular/diagnóstico por imagem
2.
Turk Neurosurg ; 34(4): 733-736, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38971977

RESUMO

Taste consists of sensation and perception. Specific neural structures transmit a stimulus from the taste buds to the gustatory cortex to generate taste sensation. Any disruption of this pathway, whether it affects sensation or perception, can result in taste disorders. Stereotactic procedures involving the thalamus may result in gustatory complications. A 41-year-old female patient who underwent stereotactic drainage of a thalamic cyst suffered transient ageusia. Subsequently, she developed metallic taste perception. When her stereotactic plan was re-evaluated, it was noted that the posteromedial ventral thalamus nucleus was in the path of the needle tract and the needle had passed through it. Follow-up was recommended and her symptoms completely resolved within 2 months following surgery. Modern imaging techniques allow for the visualization of neural structures related to the sense of taste. Additionally, care must be taken when planning stereotactic procedures for such lesions.


Assuntos
Ageusia , Drenagem , Disgeusia , Humanos , Feminino , Adulto , Ageusia/etiologia , Disgeusia/etiologia , Drenagem/métodos , Cistos/cirurgia , Imageamento por Ressonância Magnética , Técnicas Estereotáxicas/efeitos adversos , Complicações Pós-Operatórias/etiologia , Doenças Talâmicas/cirurgia , Doenças Talâmicas/diagnóstico por imagem , Tálamo/diagnóstico por imagem , Tálamo/cirurgia
3.
Clin Respir J ; 18(7): e13807, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38994638

RESUMO

The gradually progressive solitary cystic-solid mass of chest CT scans is highly suggestive of lung cancer. We report a case of a 29-year-old woman with a persistent cystic-solid lesion in the right upper lobe. A chest CT scan showed a 35 mm × 44 mm × 51 mm focal cystic-solid mass in the anterior segment of the right upper lobe. The size of lesion had increased over 3 years, especially for the solid component. The right upper lobe pneumonectomy was performed. Postoperative pathological examination showed placental transmogrification of the lung, which is a rare cause of pulmonary cystic lesion.


Assuntos
Pneumonectomia , Tomografia Computadorizada por Raios X , Humanos , Feminino , Adulto , Tomografia Computadorizada por Raios X/métodos , Pneumonectomia/métodos , Neoplasias Pulmonares/patologia , Neoplasias Pulmonares/cirurgia , Neoplasias Pulmonares/diagnóstico por imagem , Neoplasias Pulmonares/diagnóstico , Pulmão/diagnóstico por imagem , Pulmão/patologia , Pulmão/cirurgia , Diagnóstico Diferencial , Gravidez , Pneumopatias/cirurgia , Pneumopatias/patologia , Pneumopatias/diagnóstico por imagem , Pneumopatias/diagnóstico , Cistos/cirurgia , Cistos/patologia , Cistos/diagnóstico por imagem , Cistos/diagnóstico , Coristoma/cirurgia , Coristoma/patologia , Coristoma/diagnóstico , Coristoma/diagnóstico por imagem , Resultado do Tratamento , Placenta/patologia , Placenta/diagnóstico por imagem
4.
Neurosurg Rev ; 47(1): 322, 2024 Jul 13.
Artigo em Inglês | MEDLINE | ID: mdl-39002048

RESUMO

This letter evaluates the recent study on the management of cystic vestibular schwannomas (VS) compared to solid VS, focusing on the clinical outcomes of surgery (SURGERY) and radiosurgery (SRS). The study offers significant insights into the differences between these tumor types, emphasizing the challenges posed by cystic VS, including rapid growth, enhanced peritumoral adhesion, and worse post-operative facial nerve outcomes. Notably, cystic VS are associated with higher recurrence rates and poorer preoperative status. The study also highlights lower gross total resection (GTR) rates and poorer long-term tumor control in cystic VS. While SRS shows high rates of functional preservation, it is less effective in ensuring recurrence-free survival in cystic VS compared to solid VS, suggesting surgery may be preferable for achieving the best long-term outcomes, particularly when safe maximal resection is possible. However, the study's retrospective design and limited sample size, along with the lack of standardized follow-up protocols, may impact the generalizability of the findings. Future research should focus on prospective, multicenter studies with standardized protocols to develop evidence-based guidelines for managing cystic VS. Innovative techniques, such as advanced imaging and minimally invasive surgical approaches, may further improve diagnostic accuracy and treatment efficacy. This study underscores the complexities of managing cystic VS and the need for tailored treatment strategies.


Assuntos
Microcirurgia , Neuroma Acústico , Radiocirurgia , Humanos , Neuroma Acústico/cirurgia , Radiocirurgia/métodos , Microcirurgia/métodos , Resultado do Tratamento , Procedimentos Neurocirúrgicos/métodos , Cistos/cirurgia , Recidiva Local de Neoplasia
5.
Int J Mol Med ; 54(3)2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-38994772

RESUMO

It is considered that the etiology of endometriosis is retrograde menstruation of endometrial tissue. Although shed endometrial cells are constantly exposed to a challenging environment with iron overload, oxidative stress and hypoxia, a few cells are able to survive and continue to proliferate and invade. Ferroptosis, an iron­dependent form of non­apoptotic cell death, is known to play a major role in the development and course of endometriosis. However, few papers have concentrated on the dynamic interaction between autophagy and ferroptosis throughout the progression of diseases. The present review summarized the current understanding of the mechanisms underlying autophagy and ferroptosis in endometriosis and discuss their role in disease development and progression. For the present narrative review electronic databases including PubMed and Google Scholar were searched for literature published up to the October 31, 2023. Autophagy and ferroptosis may be activated at early stages in endometriosis development. On the other hand, excessive activation of intrinsic pathways (e.g., estrogen and mechanistic target of rapamycin) may promote disease progression through autophagy inhibition. Furthermore, suppression of ferroptosis may cause further progression of endometriotic lesions. In conclusion, the autophagy and ferroptosis pathways may play a dual role in disease initiation and progression. The present review discussed the temporal transition of non­apoptotic cell death regulation during disease progression from retrograde endometrium to early lesions to established lesions.


Assuntos
Autofagia , Endometriose , Ferroptose , Humanos , Endometriose/metabolismo , Endometriose/patologia , Autofagia/fisiologia , Feminino , Animais , Cistos/patologia , Cistos/metabolismo , Endométrio/metabolismo , Endométrio/patologia
6.
BMC Pulm Med ; 24(1): 351, 2024 Jul 19.
Artigo em Inglês | MEDLINE | ID: mdl-39030558

RESUMO

BACKGROUND: While spontaneous pneumothorax has been documented in COVID-19 patients, reports on recurrent spontaneous pneumothorax due to cystic lesions in convalescent COVID-19 patients are scarce. The progression of these lung cystic lesions remains inadequately explored. CASE PRESENTATION AND LITERATURE REVIEW: An 81-year-old male, a non-smoker with a history of rheumatoid arthritis, presented with fever, cough, and expectoration for 14 days. Initially diagnosed with moderate COVID-19, he deteriorated to severe COVID-19 despite adherence to local treatment guidelines. Successive identification of three cystic lesions termed "bulla" or "pneumatocele", and one cystic lesion with air-fluid level, referred to as "pneumo-hamatocele" (PHC), occurred in his lungs. Gradual improvement followed anti-inflammatory therapy and optimal supportive care. However, on day 42, sudden worsening dyspnea prompted a computed tomography (CT) scan, confirming a right spontaneous pneumothorax and subcutaneous emphysema, likely due to PHC rupture. Discharge followed chest tube implementation for pneumothorax resolution. On day 116, he returned to the hospital with mild exertional dyspnea. Chest CT revealed recurrent right pneumothorax from a remaining cyst in the right lung. Apart from our patient, literature retrieval identified 22 COVID-19 patients with spontaneous pneumothorax due to cystic lesions, with a male predominance (95.6%; 22/23). Diagnosis of pneumothorax and lung cystic lesions occurred around day 29.5 (range: 18-35) and day 26.4 (± 9.8) since symptom onset, respectively. Except for one patient whose pneumothorax occurred on day seven of illness, all patients eventually recovered. CONCLUSIONS: Recurrent spontaneous pneumothorax secondary to lung cystic lesions may manifest in convalescent COVID-19 patients, particularly males with COVID-19 pneumonia. Chest CT around 2 to 3 weeks post-symptom onset may be prudent to detect cystic lesion development and anticipate spontaneous pneumothorax.


Assuntos
COVID-19 , Pneumotórax , Recidiva , Tomografia Computadorizada por Raios X , Humanos , Pneumotórax/etiologia , Pneumotórax/terapia , Pneumotórax/diagnóstico por imagem , Masculino , COVID-19/complicações , COVID-19/terapia , Idoso de 80 Anos ou mais , SARS-CoV-2 , Cistos/complicações , Cistos/diagnóstico por imagem , Pulmão/diagnóstico por imagem , Pulmão/patologia , Pneumopatias/diagnóstico
7.
Ann Afr Med ; 23(2): 237-241, 2024 Apr 01.
Artigo em Francês, Inglês | MEDLINE | ID: mdl-39028173

RESUMO

A tailgut cyst is a rare benign polycystic congenital lesion in presacral or retrorectal space, when there is failure of involution of tailgut. Clinical presentation may be with or without symptoms of different types related to obstruction, infection, or rarely malignancy. Symptoms may be misleading and atypical, so understanding of characteristics of tailgut cysts is important for precise and early diagnosis to be made for proper treatment and to avoid complications and malignant transformation. Magnetic resonance imaging pelvis was used as diagnostic imaging investigation, but the final confirmation was only done by histopathology. Definitive treatment is surgery, though various surgical approaches are described, surgery is tailored which will suit the individual patient's anatomy and suspected diagnosis of mass. This case review used PubMed and Web of Science databases to search for the studies. We found around 176 articles and selected 77 articles in our survey, with 8 reviews, 31 case reports, and 31 case reports and reviews.


RésuméUn kyste intestinal est une lésion congénitale polykystique bénigne rare dans l'espace présacré ou rétrorectal, en cas d'échec de l'involution de l'intestin grêle. La présentation clinique peut être accompagnée ou non de symptômes de différents types liés à une obstruction, une infection ou, plus rarement, une tumeur maligne. Les symptômes peuvent être trompeurs et atypiques, c'est pourquoi il est important de comprendre les caractéristiques des kystes de l'intestin grêle pour établir un diagnostic précis et précoce afin d'établir un traitement approprié et d'éviter les complications et la transformation maligne. L'imagerie par résonance magnétique du bassin a été utilisée comme examen d'imagerie diagnostique, mais la confirmation finale n'a été faite que par histopathologie. Le traitement définitif est la chirurgie, bien que diverses approches chirurgicales soient décrites, la chirurgie est adaptée à l'anatomie de chaque patient et au diagnostic suspecté de masse. Cette revue de cas a utilisé les bases de données PubMed et Web of Science pour rechercher les études. Nous avons trouvé environ 176 articles et sélectionné 77 articles dans notre enquête, avec 8 revues, 31 rapports de cas et 31 rapports de cas et critiques.


Assuntos
Cistos , Imageamento por Ressonância Magnética , Adulto , Feminino , Humanos , Masculino , Cistos/cirurgia , Cistos/diagnóstico por imagem , Cistos/patologia , Diagnóstico Diferencial , Região Sacrococcígea , Resultado do Tratamento , Relatos de Casos como Assunto
8.
Rom J Morphol Embryol ; 65(2): 225-241, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39020537

RESUMO

INTRODUCTION: Gonadal pediatric tumors are rare, ranking fourth (6%) among pediatric tumors, by Surveillance, Epidemiology, and End Results Program (https:∕∕seer.cancer.gov∕). They have vague symptoms, leading to late discovery, but early detection and identifying its risk factors result in favorable prognosis and reduction of its incidence respectively. PATIENTS, MATERIAL AND METHODS: A 10-year retrospective study identified peculiarities and risk factors in 210 children till age 17 with (para)gonadal tumors. RESULTS: Stress, pollution (agricultural chemicals, insecticides and metal mine), obesity, breastfeeding ≤5 months, malformations [mainly non-genetic related 67∕87 (77%), especially eye malformation - 64%], hormone, smoking, positive heredo-genetic history, rural residence area, abnormal birth weight, and menstruation disorders showed an increased gonadal malignancy risk; relative risk ratio (RR): 1.33, 1.30, 1.34, 1.11, 1.65, 1.16, 1.36, 1.10, 1.00, 1.08 and 1.15 folds, respectively. RR for histopathological subtypes: immature teratoma (IT) (pollution - 1.75, Rhesus positive - 3.41), dysgerminoma (menstruation disorders - 2.80), granulosa cell tumor (stress - 2.10, menstruation disorders - 2.80), mucinous cystadenomas (obesity - 2.84, no postnatal vaccine - 3.71), mature teratomas (stress - 2.35, malformations - 2.18) and serous cystadenomas (breastfeeding ≤5 months - 2.53), dependent variables being mixed germ cell tumors (GCTs) and cysts. Children presenting with bleeding (73%), abdominal distention (62%), elevated tumor markers (91%), (multilocular) solid tumor (88% and 100%), tumor size >10 cm (65%), GCTs (74%), death (100%), metastases (100%), viruses (77%), loss of appetite (68%), and weight (85%), had gonadal malignant tumors, especially mixed GCTs and IT. CONCLUSIONS: Avoiding these risk factors will prevent and reduce gonadal pediatric tumors. Investigating children presenting with the listed peculiarities, especially if exposed to the mentioned risk factors, will enable early gonadal tumor identification, successful patient management, and favorable prognosis.


Assuntos
Cistos , Humanos , Estudos Retrospectivos , Feminino , Criança , Fatores de Risco , Adolescente , Pré-Escolar , Masculino , Lactente , Cistos/patologia , Cistos/epidemiologia
9.
Sichuan Da Xue Xue Bao Yi Xue Ban ; 55(3): 717-723, 2024 May 20.
Artigo em Chinês | MEDLINE | ID: mdl-38948284

RESUMO

Objective: The aim of this study is to explore the practical value of prenatal magnetic resonance imaging (MRI) in the assessment of congenital cystic lung disease in fetuses, to evaluate the relative size of the lesion and the status of lung development, and to make an attempt at utilizing the strength of MRI in post-processing to obtain assessment indicators of the size of the lesion and the status of lung development, with which predictions can be made for the prognosis that these fetuses may face after birth. We retrospectively collected and analyzed the data of fetuses diagnosed with congenital cystic lung disease. Prenatal ultrasound examination of these fetuses led to the diagnosis that they were suspected of having congenital cystic lung disease and the diagnosis was confirmed by subsequent prenatal MRI. The fetuses were followed up to track their condition at birth (postnatal respiratory distress, mechanical ventilation, etc.), whether the fetuses underwent surgical treatment, and the recovery of the fetuses after surgical treatment. The recovery of the fetuses was followed up to explore the feasibility of prenatal MRI examination to assess fetal congenital pulmonary cystic disease, and to preliminarily explore the predictive value of prenatal MRI for the prognosis of fetuses with congenital pulmonary cystic disease. Methods: MRI fetal images were collected from pregnant women who attended the West China Second University Hospital of Sichuan University between May 2018 and March 2023 and who were diagnosed with fetal congenital pulmonary cystic disease by prenatal ultrasound and subsequent MRI. Fetal MRI images of congenital cystic lung disease were post-processed to obtain the fetal lung lesion volume, the fetal affected lung volume, the healthy lung volume, and the fetal head circumference measurements. The signal intensity of both lungs and livers, the lesion volume/the affected lung volume, the lesion volume/total lung volume, the cystic volume ratio (CVR), and the bilateral lung-liver signal intensity ratio were measured. The feasibility and value of MRI post-processing acquisition indexes for evaluating the prognosis of fetuses with congenital cystic lung disease were further analyzed by combining the follow-up results obtained 6 months after the birth of the fetus. Logistic regression models were used to quantify the differences in maternal age, gestational week at the time of MRI, CVR, and bilateral lung-to-liver signal intensity ratio, and to assess whether these metrics correlate with poor prognosis. Receiver operating characteristic (ROC) curves were used to assess the value of the parameters obtained by MRI calculations alone and in combination with multiple metrics for predicting poor prognosis after birth. Results: We collected a total of 67 cases of fetuses diagnosed with congenital cystic lung disease by fetal MRI between May 2018 and March 2023, and excluded 6 cases with no normal lung tissue in the affected lungs, 11 cases of fetal induction, and 3 cases of loss of pregnancy. In the end, 47 cases of fetuses with congenital cystic lung disease were included, of which 30 cases had a good prognosis and 17 cases had a poor prognosis. The difference in the difference between the signal intensity ratios of the affected and healthy sides of the lungs and livers of the fetuses in the good prognosis group and that in the poor prognosis group was statistically significant (P<0.05), and the signal intensity ratio of the healthy side of the lungs and livers was higher than the signal intensity ratio of the affected side of the lungs and livers. Further analysis showed that CVR (odds ratio [OR]=1.058, 95% confidence interval [CI]: 1.014-1.104), and the difference between the lung-to-liver signal intensity ratios of the affected and healthy sides (OR=0.814, 95% CI: 0.700-0.947) were correlated with poor prognosis of birth in fetuses with congenital cystic lung disease. In addition, ROC curve analysis showed that the combined application of lesion volume/affected lung volume and the observed difference in the signal intensity ratio between the affected and healthy lungs and liver predicted the prognosis of children with congenital cystic lung disease more accurately than the single-parameter judgment did, with the area under the curve being 0.988, and the cut-off value being 0.33, which corresponded to a sensitivity of 100%, a specificity of 93.3%, and a 95% CI of 0.966-1.000. Conclusions: Based on the MRI of fetuses with congenital cystic lung disease, we obtained information on lesion volume, lesion volume/affected lung volume, lesion volume/total lung volume, CVR, and bilateral lung-to-liver signal intensity ratio difference, all of which showing some clinical value in predicting the poor prognosis in fetuses with congenital cystic lung disease. Furthermore, among the combined indexes, the lesion volume/affected lung volume and bilateral lung-to-liver signal intensity ratio difference are more effective predictors for the poor prognosis of fetuses with congenital cystic lung disease, and show better efficacy in predicting the poor prognosis of fetuses with congenital cystic lung disease. This provides a new and effective predictive method for further assessment of pulmonary lung development in fetuses with congenital cystic lung disease, and helps improve the assessment and prediction of the prognosis of fetuses with congenital cystic lung disease.


Assuntos
Pulmão , Imageamento por Ressonância Magnética , Diagnóstico Pré-Natal , Humanos , Feminino , Imageamento por Ressonância Magnética/métodos , Gravidez , Prognóstico , Diagnóstico Pré-Natal/métodos , Estudos Retrospectivos , Pulmão/diagnóstico por imagem , Pulmão/embriologia , Pulmão/patologia , Malformação Adenomatoide Cística Congênita do Pulmão/diagnóstico por imagem , Doenças Fetais/diagnóstico por imagem , Cistos/diagnóstico por imagem , Cistos/congênito , Ultrassonografia Pré-Natal/métodos
12.
Neurosurg Rev ; 47(1): 291, 2024 Jun 25.
Artigo em Inglês | MEDLINE | ID: mdl-38914785

RESUMO

Some vestibular schwannoma (VS) show cystic morphology. It is known that these cystic VS bear different risk profiles compared to solid VS in surgical treatment. Still, there has not been a direct comparative study comparing both SRS and SURGERY effectiveness in cystic VS. This retrospective bi-center cohort study aims to analyze the management of cystic VS compared to solid VS in a dual center study with both microsurgery (SURGERY) and stereotactic radiosurgery (SRS). Cystic morphology was defined as presence of any T2-hyperintense and Gadolinium-contrast-negative cyst of any size in the pre-interventional MRI. A matched subgroup analysis was carried out by determining a subgroup of matched SURGERY-treated solid VS and SRS-treated solid VS. Functional status, and post-interventional tumor volume size was then compared. From 2005 to 2011, N = 901 patients with primary and solitary VS were treated in both study sites. Of these, 6% showed cystic morphology. The incidence of cystic VS increased with tumor size: 1.75% in Koos I, 4.07% in Koos II, 4.84% in Koos III, and the highest incidence with 15.43% in Koos IV. Shunt-Dependency was significantly more often in cystic VS compared to solid VS (p = 0.024) and patients with cystic VS presented with significantly worse Charlson Comorbidity Index (CCI) compared to solid VS (p < 0.001). The rate of GTR was 87% in cystic VS and therefore significantly lower, compared to 96% in solid VS (p = 0.037). The incidence of dynamic volume change (decrease and increase) after SRS was significantly more common in cystic VS compared to the matched solid VS (p = 0.042). The incidence of tumor progression with SRS in cystic VS was 25%. When comparing EOR in the SURGERY-treated cystic to solid VS, the rate for tumor recurrence was significantly lower in GTR with 4% compared to STR with 50% (p = 0.042). Tumor control in cystic VS is superior in SURGERY, when treated with a high extent of resection grade, compared to SRS. Therapeutic response of SRS was worse in cystic compared to solid VS. However, when cystic VS was treated surgically, the rate of GTR is lower compared to the overall, and solid VS cohort. The significantly higher number of patients with relevant post-operative facial palsy in cystic VS is accredited to the increased tumor size not its sole cystic morphology. Cystic VS should be surgically treated in specialized centers.


Assuntos
Microcirurgia , Neuroma Acústico , Radiocirurgia , Humanos , Radiocirurgia/métodos , Microcirurgia/métodos , Neuroma Acústico/cirurgia , Feminino , Masculino , Pessoa de Meia-Idade , Adulto , Estudos Retrospectivos , Idoso , Resultado do Tratamento , Imageamento por Ressonância Magnética , Cistos/cirurgia , Adulto Jovem
13.
Elife ; 122024 Jun 10.
Artigo em Inglês | MEDLINE | ID: mdl-38856718

RESUMO

Abnormal lung development can cause congenital pulmonary cysts, the mechanisms of which remain largely unknown. Although the cystic lesions are believed to result directly from disrupted airway epithelial cell growth, the extent to which developmental defects in lung mesenchymal cells contribute to abnormal airway epithelial cell growth and subsequent cystic lesions has not been thoroughly examined. In the present study using genetic mouse models, we dissected the roles of bone morphogenetic protein (BMP) receptor 1a (Bmpr1a)-mediated BMP signaling in lung mesenchyme during prenatal lung development and discovered that abrogation of mesenchymal Bmpr1a disrupted normal lung branching morphogenesis, leading to the formation of prenatal pulmonary cystic lesions. Severe deficiency of airway smooth muscle cells and subepithelial elastin fibers were found in the cystic airways of the mesenchymal Bmpr1a knockout lungs. In addition, ectopic mesenchymal expression of BMP ligands and airway epithelial perturbation of the Sox2-Sox9 proximal-distal axis were detected in the mesenchymal Bmpr1a knockout lungs. However, deletion of Smad1/5, two major BMP signaling downstream effectors, from the lung mesenchyme did not phenocopy the cystic abnormalities observed in the mesenchymal Bmpr1a knockout lungs, suggesting that a Smad-independent mechanism contributes to prenatal pulmonary cystic lesions. These findings reveal for the first time the role of mesenchymal BMP signaling in lung development and a potential pathogenic mechanism underlying congenital pulmonary cysts.


Congenital disorders are medical conditions that are present from birth. Although many congenital disorders are rare, they can have a severe impact on the quality of life of those affected. For example, congenital pulmonary airway malformation (CPAM) is a rare congenital disorder that occurs in around 1 out of every 25,000 pregnancies. In CPAM, abnormal, fluid-filled sac-like pockets of tissue, known as cysts, form within the lungs of unborn babies. After birth, these cysts become air-filled and do not behave like normal lung tissue and stop a baby's lungs from working properly. In severe cases, babies with CPAM need surgery immediately after birth. We still do not understand exactly what the underlying causes of CPAM might be. CPAM is not considered to be hereditary ­ that is, it does not appear to be passed down in families ­ nor is it obviously linked to any environmental factors. CPAM is also very difficult to study, because researchers cannot access tissue samples during the critical early stages of the disease. To overcome these difficulties, Luo et al. wanted to find a way to study CPAM in the laboratory. First, they developed a non-human animal 'model' that naturally forms CPAM-like lung cysts, using genetically modified mice where the gene for the signaling molecule Bmpr1a had been deleted in lung cells. Normally, Bmpr1a is part of a set of the molecular instructions, collectively termed BMP signaling, which guide healthy lung development early in life. However, mouse embryos lacking Bmpr1a developed abnormal lung cysts that were similar to those found in CPAM patients, suggesting that problems with BMP signalling might also trigger CPAM in humans. Luo et al. also identified several other genes in the Bmpr1a-deficient mouse lungs that had abnormal patterns of activity. All these genes were known to be controlled by BMP signaling, and to play a role in the development and organisation of lung tissue. This suggests that when these genes are not controlled properly, they could drive formation of CPAM cysts when BMP signaling is compromised. This work is a significant advance in the tools available to study CPAM. Luo et al.'s results also shed new light on the molecular mechanisms underpinning this rare disorder. In the future, Luo et al. hope this knowledge will help us develop better treatments for CPAM, or even help to prevent it altogether.


Assuntos
Receptores de Proteínas Morfogenéticas Ósseas Tipo I , Pulmão , Mesoderma , Camundongos Knockout , Transdução de Sinais , Animais , Receptores de Proteínas Morfogenéticas Ósseas Tipo I/genética , Receptores de Proteínas Morfogenéticas Ósseas Tipo I/metabolismo , Receptores de Proteínas Morfogenéticas Ósseas Tipo I/deficiência , Camundongos , Pulmão/embriologia , Pulmão/metabolismo , Pulmão/patologia , Mesoderma/embriologia , Mesoderma/metabolismo , Cistos/metabolismo , Cistos/patologia , Cistos/genética , Proteínas Morfogenéticas Ósseas/metabolismo , Proteínas Morfogenéticas Ósseas/genética , Pneumopatias/metabolismo , Pneumopatias/patologia , Pneumopatias/genética , Modelos Animais de Doenças
16.
Hand Surg Rehabil ; 43S: 101655, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38879230

RESUMO

Mucous cyst is a benign but recurrent lesion. It is located on the dorsal surface of the digital extremity between the distal interphalangeal joint and the base of the nail. The nail is often affected by the cyst because of its topographical proximity. Nail plate deformity may even be the first obvious abnormality indicating the presence of a small mucous cyst or subungual cyst. Mucous cyst is associated with osteoarthritis of the joint, osteophytes probably being the main contributing factor. Surgical treatment by joint debridement and cyst removal is the most effective way of preventing recurrence.


Assuntos
Desbridamento , Humanos , Mucocele/cirurgia , Doenças da Unha/cirurgia , Cistos/cirurgia , Dedos/cirurgia , Dedos/anormalidades , Articulações dos Dedos/cirurgia
17.
J Neurol Sci ; 462: 123111, 2024 Jul 15.
Artigo em Inglês | MEDLINE | ID: mdl-38943895

RESUMO

Pineal cysts are frequently encountered as incidental findings in magnetic resonance imaging, usually devoid of symptoms, yet some patients exhibit symptomatic manifestations possibly associated with the cyst, even in the absence of hydrocephalus. The etiology of these symptoms remains contentious. This study aims to investigate the presence of lymphatic endothelial cell (LEC) markers and indications of inflammation or immune response within the pineal cysts of patients experiencing symptomatic non-hydrocephalic presentations. Eight patients who underwent surgical excision of their cysts were included in the study. Immunohistochemistry was utilized to assess the expression of LYVE-1, PDPN, and VEGFR3 as LEC markers, alongside IL-6 and CD3 for indications of inflammation or immune activity. Our analysis revealed an absence of inflammatory markers or immune response. However, a distinct expression of VEGFR3 was observed, likely localized to neurons within the pineal cyst tissue. We propose that these VEGFR3+ neurons within the pineal cyst may contribute to the headache symptoms reported by these patients. Further investigations are warranted to substantiate this hypothesis.


Assuntos
Glândula Pineal , Humanos , Masculino , Feminino , Glândula Pineal/diagnóstico por imagem , Glândula Pineal/patologia , Glândula Pineal/imunologia , Adulto , Pessoa de Meia-Idade , Cistos/diagnóstico por imagem , Cistos/imunologia , Cistos/patologia , Inflamação/imunologia , Inflamação/patologia , Inflamação/diagnóstico por imagem , Receptor 3 de Fatores de Crescimento do Endotélio Vascular/metabolismo , Cistos do Sistema Nervoso Central/diagnóstico por imagem , Cistos do Sistema Nervoso Central/patologia , Cistos do Sistema Nervoso Central/imunologia , Adulto Jovem , Idoso , Imageamento por Ressonância Magnética
18.
J Mother Child ; 28(1): 45-50, 2024 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-38920016

RESUMO

BACKGROUND: Van der Woude syndrome (VWS) is a rare congenital malformation characterized by lower lip pits among patients with a lip and/or palate cleft. It is transmitted by an autosomal dominant inheritance with variable expressivity. METHODS: The study group consisted of 24 consecutive patients (13 males and 11 females) with VWS operated on at a single center between 2009 and 2022. They suffered from: bilateral cleft lip and palate - 6 patients; unilateral cleft lip and palate - 9 patients; cleft lip - 1 patient; and isolated cleft palate - 8 patients. RESULTS: In 16 (66%) cases pits of lower lip occurred on both side of midline, while in 8 (34%) the pits were detected unilaterally. The primary cleft repairs were performed according to one-stage principle at the mean age of 8.6 months (SD 1.4, range 6-12). In all patients lower lip pits repairs were performed after the primary cleft repairs as a separate procedure at the mean age of 37 months (SD 11.3 range 14-85). The mean number of all primary repairs of the syndrome-both cleft defect and lower lip pits repairs-was 2.46. Nine patients (37.5%) required additional secondary corrections of the lower lip due to the poor aesthetic post-operative outcome. CONCLUSIONS: The frequent need for secondary corrections of residual lower lip deformities indicates the considerable difficulties in obtaining a satisfactory outcome of the repairs to lip pits caused by VWS. The average number of the primary surgical interventions in evaluated material remained low.


Assuntos
Anormalidades Múltiplas , Fenda Labial , Fissura Palatina , Lábio , Humanos , Fenda Labial/cirurgia , Feminino , Fissura Palatina/cirurgia , Masculino , Estudos Retrospectivos , Lábio/anormalidades , Lábio/cirurgia , Anormalidades Múltiplas/cirurgia , Pré-Escolar , Lactente , Criança , Resultado do Tratamento , Procedimentos de Cirurgia Plástica/métodos , Cistos/cirurgia
19.
Sultan Qaboos Univ Med J ; 24(2): 276-278, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38828236

RESUMO

Blood-filled cysts of the heart valves are frequently reported at postpartum autopsies of infants. They are seen as round nodules mostly in the paediatric age group in infants less than 2 months of age and disappear spontaneously within 6 months of life. We report a unique case of an 11-month-old girl who presented at a tertiary healthcare hospital in 2022 with a blood-filled cyst on the posterior leaflet of the pulmonary valve that was successfully treated. This case report highlights the characteristics and course of a paediatric patient with blood-filled cysts. Further studies are yet needed to better understand the diagnostic approaches to blood-filled cysts as well as treatment modalities to fill the gap in clinical settings.


Assuntos
Cistos , Feminino , Humanos , Lactente , Cistos/congênito , Valva Pulmonar/anormalidades
20.
Biomed Environ Sci ; 37(5): 471-478, 2024 May 20.
Artigo em Inglês | MEDLINE | ID: mdl-38843920

RESUMO

Objective: Little is known about the association between whole-blood nicotinamide adenine dinucleotide (NAD +) levels and nabothian cysts. This study aimed to assess the association between NAD + levels and nabothian cysts in healthy Chinese women. Methods: Multivariate logistic regression analysis was performed to analyze the association between NAD + levels and nabothian cysts. Results: The mean age was 43.0 ± 11.5 years, and the mean level of NAD + was 31.3 ± 5.3 µmol/L. Nabothian cysts occurred in 184 (27.7%) participants, with single and multiple cysts in 100 (15.0%) and 84 (12.6%) participants, respectively. The total nabothian cyst prevalence gradually decreased from 37.4% to 21.6% from Q1 to Q4 of NAD + and the prevalence of single and multiple nabothian cysts also decreased across the NAD + quartiles. As compared with the highest NAD + quartile (≥ 34.4 µmol/L), the adjusted odds ratios with 95% confidence interval of the NAD + Q1 was 1.89 (1.14-3.14) for total nabothian cysts. The risk of total and single nabothian cysts linearly decreased with increasing NAD + levels, while the risk of multiple nabothian cysts decreased more rapidly at NAD + levels of 28.0 to 35.0 µmol/L. Conclusion: Low NAD + levels were associated with an increased risk of total and multiple nabothian cysts.


Assuntos
NAD , Humanos , Feminino , Adulto , Pessoa de Meia-Idade , NAD/sangue , NAD/metabolismo , Cistos/sangue , Cistos/epidemiologia , China/epidemiologia
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