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1.
Kidney Int ; 105(4): 731-743, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38158181

RESUMEN

Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a leading cause of kidney failure and is associated with substantial morbidity and mortality. Interstitial inflammation is attributed to the action of infiltrating macrophages and is a feature thought to aggravate disease progression. Here, we investigated the therapeutic potential of the anti-inflammatory IL37b cytokine as a treatment for ADPKD using genetic mouse models, demonstrating that transgenic expression of human IL37b reduced collecting duct cyst burden in both early and adult-onset ADPKD rodent models. Moreover, injection of recombinant human IL37b could also reduce cyst burden in early onset ADPKD mice, an observation not associated with increased macrophage number at early stages of cyst formation. Interestingly, transgenic IL37b expression also did not alter macrophage numbers in advanced disease. Whole kidney RNA-seq highlighted an IL37b-mediated upregulation of the interferon signaling pathway and single-cell RNA-seq established that these changes originate at least partly from kidney resident macrophages. We further found that blocking type I interferon signaling in mice expressing IL37b resulted in increased cyst number, confirming this as an important pathway by which IL37b exerts its beneficial effects. Thus, our studies show that IL37b promotes interferon signaling in kidney resident macrophages which suppresses cyst initiation, identifying this protein as a potential therapy for ADPKD.


Asunto(s)
Quistes , Riñón Poliquístico Autosómico Dominante , Ratones , Humanos , Animales , Riñón Poliquístico Autosómico Dominante/tratamiento farmacológico , Riñón Poliquístico Autosómico Dominante/genética , Inflamación/genética , Inflamación/complicaciones , Riñón/metabolismo , Quistes/complicaciones , Interleucinas , Interferones
2.
BMC Pulm Med ; 24(1): 351, 2024 Jul 19.
Artículo en Inglés | MEDLINE | ID: mdl-39030558

RESUMEN

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.


Asunto(s)
COVID-19 , Neumotórax , Recurrencia , Tomografía Computarizada por Rayos X , Humanos , Neumotórax/etiología , Neumotórax/terapia , Neumotórax/diagnóstico por imagen , Masculino , COVID-19/complicaciones , COVID-19/terapia , Anciano de 80 o más Años , SARS-CoV-2 , Quistes/complicaciones , Quistes/diagnóstico por imagen , Pulmón/diagnóstico por imagen , Pulmón/patología , Enfermedades Pulmonares/diagnóstico
3.
Childs Nerv Syst ; 40(4): 1311-1314, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38217731

RESUMEN

A 9-year-old girl presented to our neurosurgery clinic complaining of visual disturbances for a week. Magnetic resonance imaging showed an extensive sellar lesion with suprasellar involvement and compression of the optic chiasm. Based on these findings, a cystic craniopharyngioma, a pituitary macroadenoma and - less likely - a Rathke's cleft cyst were considered as differential diagnoses. In view of the progressive loss of vision, the parents agreed to resection of the lesion through an endoscopic endonasal transtubercular approach, with the aim of a gross total resection. Microscopic examination revealed that the lesion was cystic, surrounded by an epithelium that was partly composed of columnar ciliated cells with interspersed mucous cells and partly had a flattened appearance. The observed findings were complex to interpret: if, on the one hand, the clinical-surgical and neuroradiologic data suggested a craniopharyngioma, this hypothesis was not supported by the microscopic data, because the presence of columnar ciliated epithelium associated with mucous cells was a microscopic feature inconsistent with a craniopharyngioma and was instead consistent with a Rathke's cleft cyst, a histologic diagnosis that was made. The incidence of Rathke's cleft cyst, which mimics clinical and neuroradiologic aspects of craniopharyngiomas, is extremely unusual, as only 2 cases have been described in the literature.


Asunto(s)
Quistes del Sistema Nervioso Central , Craneofaringioma , Quistes , Neoplasias Hipofisarias , Femenino , Humanos , Niño , Craneofaringioma/cirugía , Neoplasias Hipofisarias/cirugía , Quistes del Sistema Nervioso Central/cirugía , Imagen por Resonancia Magnética , Quistes/complicaciones
4.
Childs Nerv Syst ; 40(4): 1251-1258, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38217730

RESUMEN

INTRODUCTION: Encephalocraniocutaneous lipomatosis (ECCL) is a rare congenital syndrome with complex skin, eye, and central nervous system (CNS) symptoms. Diagnosis and treatment are challenging due to its rarity and diverse manifestations. It often involves issues like porencephalic cysts, cortical atrophy, and low-grade gliomas in the CNS, resulting in developmental delays. The spinal cord is frequently affected, leading to problems like medullary compression and radiculopathy, causing back pain and sensory/motor deficits. Surgical interventions are reserved for symptomatic cases to address hydrocephalus or alleviate spinal lipomas. This article reviews a case series to assess surgical risks and neurological outcomes. CASE SERIES: We present a case series ECCL, focusing on the diffuse lipomatosis of the spinal cord and the intricate surgical procedures involved. A multi-stage surgical approach was adopted, with continuous neuromonitoring employed to safeguard motor pathways. We discuss clinical characteristics, imaging studies, and indications for neurosurgical interventions. DISCUSSION: ECCL is a complex syndrome. Diagnosis is challenging and includes clinical evaluation, neuroimaging, and genetic testing. Treatment targets specific symptoms, often requiring surgery for issues like lipomas or cerebral cysts. Surgery involves laminectomies, spinal fusion, and motor pathway monitoring. Thorough follow-up is crucial due to potential CNS complications like low-grade gliomas. Hydrocephalus occurs in some cases, with endoscopic third ventriculostomy (ETV) preferred over ventriculoperitoneal shunt placement. CONCLUSION: Neurosurgery for ECCL is for symptomatic cases. ETV is preferred for hydrocephalus, while the treatment for lipoma is based on the presence of symptoms; the follow-up should assess growth and prevent deformities.


Asunto(s)
Quistes , Oftalmopatías , Glioma , Hidrocefalia , Lipoma , Lipomatosis , Síndromes Neurocutáneos , Humanos , Quistes/complicaciones , Glioma/complicaciones , Hidrocefalia/complicaciones , Lipoma/complicaciones , Lipomatosis/cirugía , Síndromes Neurocutáneos/complicaciones
5.
Childs Nerv Syst ; 40(7): 2223-2225, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38538973

RESUMEN

Cystic degeneration of the fibrous dysplasia is a very rare clinical condition and may present with loss of vision when it involved the skull base. A 12-year-old female child presented with an enlargement of the skull. She was diagnosed as large skull base and skull vault tumor. She underwent partial removal of the tumor, and custom-made titanium implant was inserted. The diagnosis was fibrous dysplasia. Two years after the initial diagnosis, she presented with total loss of vision at her right eye. Radiological imaging confirmed the cystic degeneration within the tumor. She re-operated and the cyst fluid was evacuated in association with the removal of cyst wall. The diagnosis was the cystic degeneration of the fibrous dysplasia. Her vision was improved a few days after the surgery. Fibrous dysplasia of the skull base should be closely followed-up in order to prevent severe visual complications.


Asunto(s)
Quistes , Humanos , Femenino , Niño , Quistes/cirugía , Quistes/diagnóstico por imagen , Quistes/complicaciones , Quistes/patología , Ceguera/etiología , Displasia Fibrosa Ósea/complicaciones , Displasia Fibrosa Ósea/cirugía , Displasia Fibrosa Ósea/diagnóstico por imagen , Trastornos de la Visión/etiología
7.
A A Pract ; 18(3): e01756, 2024 Mar 01.
Artículo en Inglés | MEDLINE | ID: mdl-38498669

RESUMEN

This is the first case report describing an aryepiglottic cyst resulting in critical airway compromise after an uneventful tracheal intubation. We present the case of a 55-year-old woman who developed acute dyspnea and stridor several hours after the surgery. She was found to have significant upper airway obstruction owing to a large left aryepiglottic cyst with a ball-valve effect.


Asunto(s)
Obstrucción de las Vías Aéreas , Quistes , Laringe , Femenino , Humanos , Persona de Mediana Edad , Obstrucción de las Vías Aéreas/etiología , Intubación Intratraqueal/efectos adversos , Tráquea , Quistes/cirugía , Quistes/complicaciones
8.
J Int Med Res ; 52(3): 3000605241235026, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38497143

RESUMEN

Parapneumonic pleural effusions are common in patients with pneumonia. When colonized by pathogenic bacteria or other microorganisms, these effusions can progress to empyema. Additionally, empyema formation may result in extension of the infection into the infradiaphragmatic region, further complicating the clinical scenario. Many subphrenic collections are found to be mesothelial cysts, which are congenital in origin. However, data regarding the potential association between mesothelial diaphragmatic cysts and parapneumonic effusions are limited. We herein describe a toddler with pneumonia complicated by parapneumonic effusion and a lung abscess with a subphrenic collection. After abscess drainage and a full course of antibiotics, imaging revealed clear lung parenchyma with an interval resolution of the effusion and a persistent unchanged subphrenic collection that was confirmed to be mesothelial diaphragmatic cyst. This case highlights the fact that not every subphrenic collection associated with parapneumonic effusion is a communicated collection formed by seeding. Such a collection can instead be an incidental cyst, which is congenital in origin and known as a mesothelial diaphragmatic cyst. A diaphragmatic mesothelial cyst is an uncommon benign congenital cyst that is unrelated to an adjacent parapneumonic effusion. It is usually incidental and can be monitored without invasive intervention.


Asunto(s)
Quistes , Empiema , Derrame Pleural , Neumonía , Humanos , Derrame Pleural/complicaciones , Neumonía/complicaciones , Neumonía/diagnóstico , Pulmón , Empiema/complicaciones , Quistes/complicaciones , Quistes/diagnóstico por imagen
9.
Arch Esp Urol ; 77(2): 224-228, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38583016

RESUMEN

Midline prostatic cysts are infrequent and mostly asymptomatic. We presented a striking case of a giant midline cyst and detailed its diagnosis, evolution, and treatment. From this case, we offered a comparison of congenital intraprostatic midline cysts, namely, Müller's cysts and utricle cysts. A 40-year-old male experienced recurrent urinary retention. A 10 × 11 mm2 cyst in the mid-prostatic region was diagnosed through transrectal ultrasound, leading to a transperineal puncture as a minimally invasive intervention. Seven years later, the cyst recurred, manifesting obstructive symptoms such as a weak urinary stream, frequent urination, and residual urine sensation. Laparoscopic surgery was then performed for the confirmed 98 × 13 mm2 cystic recurrence. The postoperative course was favourable with no complications. Symptoms were completely resolved, which was maintained over a three-year follow-up period. The therapeutic approach to midline cysts targets symptomatic cases or infertility, ranging from cyst puncture to transurethral endoscopic treatment. Recurrence after minimally invasive interventions is a challenge, with laparoscopic surgery as an alternative post-failed conservative approach. Although total cyst removal risks adjacent structure damage, marsupialisation improves the clinical outcomes. In summary, symptomatic midline prostatic cysts present challenges owing to recurrences after minimally invasive approaches. Enhanced laparoscopic techniques offer a solution, particularly in highly symptomatic cases requiring definitive treatment, as illustrated by this outstanding case report.


Asunto(s)
Quistes , Laparoscopía , Enfermedades de la Próstata , Retención Urinaria , Masculino , Humanos , Adulto , Retención Urinaria/etiología , Enfermedades de la Próstata/complicaciones , Enfermedades de la Próstata/cirugía , Enfermedades de la Próstata/diagnóstico , Próstata , Quistes/complicaciones , Quistes/cirugía , Quistes/diagnóstico
10.
Asian J Endosc Surg ; 17(3): e13308, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38622489

RESUMEN

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.


Asunto(s)
Quistes , Laparoscopía , Hepatopatías , Masculino , Femenino , Humanos , Persona de Mediana Edad , Verde de Indocianina , Laparoscopía/métodos , Quistes/diagnóstico por imagen , Quistes/cirugía , Quistes/complicaciones , Imagen Óptica , Hígado
11.
Foot Ankle Clin ; 29(1): 123-143, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38309797

RESUMEN

Total ankle arthroplasty (TAA) has become a popular management option for ankle arthritis. Periprosthetic osteolysis is one of the most common causes for reoperation in TAA. A CT scan should be done in all suspected osteolysis cases to confirm location, quantify size and aid in surgical planning. These patients are often asymptomatic with limited evidence regarding appropriate management. Smaller lesions should be monitored for progression in size. Periprosthetic cysts measuring 10-15mm in all three axes should be considered for debridment and curettage with autogenous bone grafting. The authors believe that bone grafting of large asymptomatic periprosthetic cysts could prevent implant failure.


Asunto(s)
Artroplastia de Reemplazo de Tobillo , Quistes , Prótesis Articulares , Osteólisis , Humanos , Tobillo/cirugía , Trasplante Óseo , Osteólisis/etiología , Estudios Retrospectivos , Artroplastia de Reemplazo de Tobillo/efectos adversos , Prótesis Articulares/efectos adversos , Quistes/complicaciones , Quistes/cirugía , Articulación del Tobillo/cirugía , Legrado/efectos adversos , Reoperación/efectos adversos
12.
Cardiovasc Pathol ; 68: 107586, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-37926350

RESUMEN

Primary cardiac tumors are uncommon clinical entities with an incidence of 0.0017% to 0.03% of all autopsies. Cystic tumor of the atrioventricular node (CTAVN) comprises of 2.7% of cardiac tumors causing sudden death associated with complete heart block. CTAVN is a congenital benign cystic and solid mass located in the triangle of Koch in atrioventricular nodal region of the heart. It has been described from infancy to adulthood, most often as an incidental finding at autopsy, but has been not yet described in fetuses. We report a case of late spontaneous abortion detected during the first ultrasound follow-up consultation at 12w+1d of gestation in a healthy 23-year-old pregnant woman, gravida 2 para 0 and one previous termination of pregnancy. Pathological study of abortion product was request. No abnormalities were detected on gross examination, but microscopically, characteristics features of cardiac cystic and solid tumor of the atrioventricular node were identified. We present the first case described in literature of a congenital benign CTAVN in a non-macerate, normal, female fetus with an appropriate growth and development for 12w+1d of gestational age. There are many reasons for performing a fetal post-mortem autopsy foremost of which is identifying an accurate cause of death.


Asunto(s)
Quistes , Neoplasias Cardíacas , Embarazo , Humanos , Femenino , Adulto Joven , Adulto , Edad Gestacional , Nodo Atrioventricular , Feto/anomalías , Feto/patología , Neoplasias Cardíacas/patología , Quistes/complicaciones , Autopsia
13.
BMJ Case Rep ; 17(2)2024 Feb 29.
Artículo en Inglés | MEDLINE | ID: mdl-38423568

RESUMEN

A non-smoker man in his second decade presented to a medical centre with intermittent haemoptysis over 2 years. The haemoptysis was infrequent initially to be ignored, but later, the episodes increased in amount and frequency. Routine blood tests including coagulation profile showed normal results. The chest radiography and echocardiography were normal. The contrast-enhanced CT scan of the chest showed a cystic lesion with intracystic abnormality and surrounding ground-glass opacity in the left upper lobe. The CT pulmonary angiography and invasive pulmonary angiography showed the abnormality to be a dilated pulmonary vessel draining into the left atrium, thereby confirming the diagnosis of congenital pulmonary varix contained within a lung cyst. The patient underwent a successful lobectomy following which he experienced no further haemoptysis.


Asunto(s)
Quistes , Enfermedades Pulmonares , Várices , Masculino , Humanos , Hemoptisis/etiología , Pulmón/diagnóstico por imagen , Pulmón/cirugía , Enfermedades Pulmonares/diagnóstico por imagen , Enfermedades Pulmonares/cirugía , Quistes/complicaciones , Quistes/diagnóstico por imagen , Quistes/cirugía , Várices/congénito
14.
Clin Implant Dent Relat Res ; 26(3): 564-570, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38462798

RESUMEN

INTRODUCTION: Patients with mucosal cysts in the maxillary sinus require special consideration in patients who require implant therapy for the restoration when undergoing implant therapy for the restoration of the posterior maxillary dentition. Treatment strategies for these clinical situations remain controversial in the literature. Thus, this study seeks to describe a safe and effective therapeutic strategy for sinus augmentation in patients with pre-existing maxillary antral cysts. METHODS: A total of 15 patients and 18 sinuses were consecutively enrolled in this cohort study and underwent maxillary antral cyst treatment by needle aspiration and simultaneous maxillary sinus augmentation (MSA). During surgical procedures, threeimplants (Zimmer Biomet, Indiana, USA) were positioned in 11 sinuses and two implants (Zimmer Biomet, Indiana, USA) were positioned in 5 sinuses. RESULTS: Overall implant success and survival rates were 100% and 97.8%, respectively at 1 year and 5-year follow-ups. Crestal bone resorption averaged 0.3 ± 0.2 mm 5-year post-loading, showing bone stability. Implant survival rate at 5-year follow-up expressed predictability of the technique comparable to historical data when MSA was performed alone. Crestal bone resorption averaged 0.3 ± 0.2 mm 5 years post-loading and shows bone stability utilizing mucosal cyst aspiration with concomitant MSA procedures. Quality of life evaluation at 1-week post-op showed similar results to published historical data. In 81% (13 sinuses), the CBCT examination at 5-year follow-up showed no cyst reformation, in 19% (3 sinuses) cyst reformation was visible, but smaller in size when compared to the pre-op CBCT evaluation, and all the patients were asymptomatic. CONCLUSIONS: Maxillary sinus mucosal cyst aspiration with concomitant MSA, may be a viable option to treat maxillary sinus cyst.


Asunto(s)
Seno Maxilar , Elevación del Piso del Seno Maxilar , Humanos , Elevación del Piso del Seno Maxilar/métodos , Femenino , Masculino , Persona de Mediana Edad , Seno Maxilar/cirugía , Seno Maxilar/diagnóstico por imagen , Quistes/cirugía , Quistes/complicaciones , Adulto , Estudios de Cohortes , Anciano , Implantación Dental Endoósea/métodos
15.
Medicine (Baltimore) ; 103(13): e37620, 2024 Mar 29.
Artículo en Inglés | MEDLINE | ID: mdl-38552087

RESUMEN

INTRODUCTION: Retinal cysts are rare lesions of the fundus that are essentially fluid-filled cavities located or originating in the retina, with a diameter larger than the normal retinal thickness. To date, there have been few case reports of giant retinal cyst hemorrhage with retinoschisis. CASE PRESENTATION: A 32-year-old woman with no other medical history complained of decreased vision for 3 days after a severe cough. The best-corrected visual acuity in the right eye was 0.5. A comprehensive ophthalmological examination including slit-lamp fundoscopy, ultrasound scan of the eye, optical coherence tomography scan, and orbital magnetic resonance imaging was performed. Ophthalmological examination revealed grade III anterior chamber blood cells and grade III vitreous hemorrhage in the right eye and a large herpetic cyst on the nasal side of the retina. The cyst projected into the vitreous, with a large amount of hemorrhage vaguely visible within it. The cyst was clearly visible, and a superficial retinal limiting detachment was observed around it. Ultrasound showed a retinal cyst with retinal detachment in the right eye. Laboratory test results were unremarkable. After 3 months of conservative treatment, the patient's intracystic hemorrhage was significantly absorbed, but the size of the cyst cavity did not show any significant change. Scleral buckling with external compression combined with external drainage of the intracystic fluid was performed, the patient's visual acuity was gradually restored to a normal 1.0 after the operation, and the retina appeared flattened. The patient was finally diagnosed with a giant retinal cyst with retinoschisis in the right eye. The presumed cause was heavy coughing leading to rupture and hemorrhage of the retinal cyst, similar to the mechanism of rupture of an arterial dissection. To the best of our knowledge, this case of retinal cyst rupture and hemorrhage caused by heavy coughing with good recovery after external surgical treatment has never been reported before. CONCLUSIONS: Giant cystic retinal hemorrhage with retinoschisis is very rare. Orbital magnetic resonance imaging and ocular B-scan ultrasound are essential for its diagnosis, and the selection of an appropriate surgical procedure is necessary to maximize the benefit for affected patients.


Asunto(s)
Quistes , Desprendimiento de Retina , Retinosquisis , Femenino , Humanos , Adulto , Curvatura de la Esclerótica/métodos , Retinosquisis/complicaciones , Retinosquisis/cirugía , Desprendimiento de Retina/etiología , Desprendimiento de Retina/cirugía , Desprendimiento de Retina/diagnóstico , Hemorragia Vítrea/etiología , Hemorragia Retiniana/complicaciones , Quistes/complicaciones , Quistes/cirugía
16.
Front Endocrinol (Lausanne) ; 15: 1323947, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38405141

RESUMEN

Introduction: Pineal cysts have long been considered a benign intracranial variation. However, in our clinical practice, it has been observed that some children with central precocious puberty (CPP) who have pineal cysts experience rapid progression in adolescent development. In recent years, there has been a significant increase in the prevalence of CPP in girls, leading to more diagnoses of CPP among children with pineal cysts. Despite this, there is no consensus regarding whether pineal cysts contribute to CPP as one of its organic factors. This study aimed to analyze the clinical characteristics of pineal cysts in children with CPP and explore the potential effects of pineal cysts on puberty development. Methods: This single-center study retrospectively analyzed clinical data from girls aged 3 to 10 years who underwent head/pituitary magnetic resonance imaging at the Children's Hospital Affiliated to Zhengzhou University between 2019 and 2022. The study categorized the detection rates of pineal cysts based on systematic disease classification and compared the rates of cyst detection between girls diagnosed with CPP and those without CPP. Subsequently, CPP-diagnosed girls with pineal cysts were examined. Among CPP-diagnosed girls meeting the study's criteria, those with pineal cysts formed the 'cyst group,' while those without cysts were matched in a 1:1 ratio based on age and body mass index to form the 'non-cyst group.' Comparative analyses were conducted to assess the clinical characteristics between these two groups. CPP-diagnosed girls with cysts were further subdivided into three groups according to cyst size (≤5 mm, 5.1-9.9 mm, and ≥10 mm) to investigate potential differences in clinical characteristics among these subgroups. The study involved an analysis of clinical data from girls diagnosed with CPP and included imaging follow-ups to explore the progression of pineal cysts over time. Results: Among the 23,245 girls who underwent head/pituitary magnetic resonance imaging scans, the detection rate of pineal cysts was 3.6% (837/23,245), with most cases being associated with endocrine diseases. The detection rate of pineal cysts in CPP patients was 6.4% (262/4099), which was significantly higher than the 3.0% (575/19,146) in patients without CPP. In comparison to the non-cyst group, the cyst group exhibited statistically significant increases in estradiol levels, peak luteinizing hormone (LH) levels, peak LH/follicle-stimulating hormone (FSH) ratios, uterine body length, and cervix length (P < 0.001). As cyst size increased, there were significant rises in LH peak, peak LH/FSH ratio, uterine body length, and cervical length (P < 0.01). Estradiol levels and left ovarian volume also showed an increasing trend (P < 0.05). Among girls who underwent follow-up imaging, 26.3% (5/19) exhibited an increase in cyst size. Conclusion: Pineal cysts are relatively common in children with CPP. They may affect the pubertal development process, with larger cysts correlating to faster pubertal development. Therefore, the authors hypothesize that pineal cysts may trigger CPP in some cases, especially when the cysts are larger than 5 mm in size, as indicated by our data.


Asunto(s)
Quistes del Sistema Nervioso Central , Quistes , Pubertad Precoz , Niño , Femenino , Humanos , Adolescente , Hormona Luteinizante , Pubertad Precoz/diagnóstico , Estudios Retrospectivos , Hormona Folículo Estimulante , Quistes/complicaciones , Quistes/diagnóstico por imagen , Hormona Folículo Estimulante Humana , Quistes del Sistema Nervioso Central/complicaciones , Quistes del Sistema Nervioso Central/diagnóstico por imagen , Estradiol
17.
Radiol Imaging Cancer ; 6(2): e230063, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38456787

RESUMEN

Purpose To investigate the prevalence of FLCN, BAP1, SDH, and MET mutations in an oncologic cohort and determine the prevalence, clinical features, and imaging features of renal cell carcinoma (RCC) associated with these mutations. Secondarily, to determine the prevalence of encountered benign renal lesions. Materials and Methods From 25 220 patients with cancer who prospectively underwent germline analysis with a panel of more than 70 cancer-predisposing genes from 2015 to 2021, patients with FLCN, BAP1, SDH, or MET mutations were retrospectively identified. Clinical records were reviewed for patient age, sex, race/ethnicity, and renal cancer diagnosis. If RCC was present, baseline CT and MRI examinations were independently assessed by two radiologists. Summary statistics were used to summarize continuous and categorical variables by mutation. Results A total of 79 of 25 220 (0.31%) patients had a germline mutation: FLCN, 17 of 25 220 (0.07%); BAP1, 22 of 25 220 (0.09%); SDH, 39 of 25 220 (0.15%); and MET, one of 25 220 (0.004%). Of these 79 patients, 18 (23%) were diagnosed with RCC (FLCN, four of 17 [24%]; BAP1, four of 22 [18%]; SDH, nine of 39 [23%]; MET, one of one [100%]). Most hereditary RCCs demonstrated ill-defined margins, central nonenhancing area (cystic or necrotic), heterogeneous enhancement, and various other CT and MR radiologic features, overlapping with the radiologic appearance of nonhereditary RCCs. The prevalence of other benign solid renal lesions (other than complex cysts) in patients was up to 11%. Conclusion FLCN, BAP1, SDH, and MET mutations were present in less than 1% of this oncologic cohort. Within the study sample size limits, imaging findings for hereditary RCC overlapped with those of nonhereditary RCC, and the prevalence of other associated benign solid renal lesions (other than complex cysts) was up to 11%. Keywords: Familial Renal Cell Carcinoma, Birt-Hogg-Dubé Syndrome, Carcinoma, Renal Cell, Paragangliomas, Urinary, Kidney © RSNA, 2024.


Asunto(s)
Carcinoma de Células Renales , Quistes , Neoplasias Renales , Humanos , Carcinoma de Células Renales/diagnóstico por imagen , Carcinoma de Células Renales/epidemiología , Carcinoma de Células Renales/genética , Mutación de Línea Germinal/genética , Prevalencia , Estudios Retrospectivos , Proteínas Supresoras de Tumor/genética , Neoplasias Renales/diagnóstico por imagen , Neoplasias Renales/epidemiología , Neoplasias Renales/genética , Quistes/complicaciones , Proteínas Proto-Oncogénicas/genética , Ubiquitina Tiolesterasa/genética
18.
J Med Case Rep ; 18(1): 133, 2024 Mar 31.
Artículo en Inglés | MEDLINE | ID: mdl-38555457

RESUMEN

BACKGROUND: Diabetes insipidus is a syndrome characterized by polyuria, which is almost always associated with polydipsia. The most frequent cause is central diabetes insipidus, which is the result of an inadequate secretion of the antidiuretic hormone, and diagnosis involves differentiating it from other causes of polyuria and polydipsia. CASE PRESENTATION: Here, we present a clinical case of a previously healthy 13-year-old Nepali boy, who, in December 2022, was found to have intense polydipsia accompanied by polyuria. He had bilateral lower limb weakness at the time of presentation. Biochemical evaluation demonstrated raised serum sodium (181 mEq/L), serum creatinine (78 µmol/L), and serum uric acid (560 µmol/L) with suppressed serum potassium (2.7 mEq/L), which was the major concern to the clinicians. Further laboratory workup revealed an increased serum osmolarity (393.6 mOsm/kg) with reduced urine osmolarity (222.7 mOsm/kg). On contrast magnetic resonance imaging of the brain, a thick-walled third ventricular cyst with bilateral foramen obstruction, thin membrane-like structure at top of aqueduct of Sylvius with gross obstructive hydrocephalus (inactive), and compressed and thinned pituitary gland with no bright spot was observed. The laboratory findings, radiological findings, and case presentation provided the provisional diagnosis of diabetes insipidus due to hydrocephalus and third ventricular cyst. CONCLUSIONS: Central diabetes insipidus due to hydrocephalus, though rare, can have serious complications including the predilection to develop a deficit of other pituitary hormones. Thus, even if hydrocephalus is dormant with normal intracranial pressure, it must be addressed during investigations of central diabetes insipidus.


Asunto(s)
Quistes , Diabetes Insípida Neurogénica , Diabetes Insípida , Hidrocefalia , Masculino , Humanos , Adolescente , Diabetes Insípida Neurogénica/complicaciones , Diabetes Insípida Neurogénica/diagnóstico , Poliuria/complicaciones , Poliuria/diagnóstico , Ácido Úrico , Diabetes Insípida/complicaciones , Diabetes Insípida/diagnóstico , Vasopresinas , Polidipsia/etiología , Polidipsia/complicaciones , Hidrocefalia/complicaciones , Quistes/complicaciones
19.
J Am Acad Orthop Surg ; 32(8): 339-345, 2024 Apr 15.
Artículo en Inglés | MEDLINE | ID: mdl-38320287

RESUMEN

INTRODUCTION: Lumbar facet cysts represent a potential source of nerve root compression in elderly patients. Isolated decompression without fusion has proven to be a reasonable treatment option in properly indicated patients. However, the risk of lumbar fusion after isolated decompression and facet cyst excision has yet to be elucidated. METHODS: The PearlDiver database was reviewed for patients undergoing isolated laminectomy for lumbar facet cyst from January 2015 to December 2018 using Current Procedural Terminology coding. Patients undergoing concomitant fusion or additional decompression, as well as those diagnosed with preexisting spondylolisthesis or without a minimum of 5-year follow-up, were excluded. Rates of subsequent lumbar fusion and potential risk factors for subsequent fusion were identified. Statistical analysis included descriptive statistics, chi square test, and multivariate logistic regression. Results were considered significant at P < 0.05. RESULTS: In total, 10,707 patients were ultimately included for analysis. At 5-year follow-up, 727 (6.79%) of patients underwent subsequent lumbar fusion after initial isolated decompression. Of these, 301 (2.81% of total patients, 41.4% of fusion patients) underwent fusion within the first year after decompression. Multivariate analysis identified chronic kidney disease, hypertension, and osteoarthritis as risk factors for requiring subsequent lumbar fusion at 5 years following the index decompression procedure ( P < 0.033; all). CONCLUSION: Patients undergoing isolated decompression for lumbar facet cysts undergo subsequent lumbar fusion at a 5-year rate of 6.79%. Risk factors for subsequent decompression include chronic kidney disease, hypertension, and osteoarthritis. This study will assist spine surgeons in appropriately counseling patients on expected postoperative course and potential risks of isolated decompression.


Asunto(s)
Quistes , Hipertensión , Osteoartritis , Insuficiencia Renal Crónica , Fusión Vertebral , Espondilolistesis , Humanos , Anciano , Descompresión Quirúrgica/métodos , Fusión Vertebral/efectos adversos , Fusión Vertebral/métodos , Quistes/complicaciones , Quistes/cirugía , Espondilolistesis/cirugía , Espondilolistesis/complicaciones , Osteoartritis/cirugía , Hipertensión/complicaciones , Hipertensión/cirugía , Insuficiencia Renal Crónica/complicaciones , Insuficiencia Renal Crónica/cirugía , Vértebras Lumbares/cirugía , Resultado del Tratamiento , Estudios Retrospectivos
20.
BMJ Case Rep ; 17(1)2024 Jan 29.
Artículo en Inglés | MEDLINE | ID: mdl-38286579

RESUMEN

An adolescent female presented with an acute abdomen and elevated beta-human chorionic gonadotropin levels and underwent a laparoscopy for a suspected ruptured ectopic pregnancy. Intraoperatively, a ruptured haemorrhagic corpus luteal cyst and tissues suggestive of products of conception were noted in the same ovary. Histology confirmed an ovarian ectopic pregnancy. Haemorrhagic ovarian cysts, and ectopic pregnancies, can cause acute pelvic pain in women of childbearing age. Their similar clinical signs and symptoms pose a diagnostic dilemma for any gynaecologist. Ruptured corpus luteal cysts, as well as ruptured ovarian ectopic pregnancies, should be considered rare but differential diagnoses in women presenting with acute abdominal pain, an adnexal mass and ultrasound features of haemoperitoneum. The mainstay of treatment is a diagnostic laparoscopy, which is a safe and feasible management strategy without compromising patient safety or ovarian function in the long run.


Asunto(s)
Abdomen Agudo , Quistes , Quistes Ováricos , Embarazo Ectópico , Embarazo Ovárico , Embarazo , Adolescente , Femenino , Humanos , Hemoperitoneo/diagnóstico por imagen , Hemoperitoneo/etiología , Hemoperitoneo/cirugía , Rotura Espontánea/complicaciones , Rotura Espontánea/cirugía , Embarazo Ectópico/diagnóstico por imagen , Embarazo Ectópico/cirugía , Quistes Ováricos/complicaciones , Quistes Ováricos/cirugía , Quistes Ováricos/diagnóstico , Rotura/complicaciones , Abdomen Agudo/etiología , Quistes/complicaciones
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