Development Of Cysts Research Articles

Rathke Cleft Cysts in Identical Twins

Rathke cleft cysts (RCC) are congenital, non-neoplastic sellar cysts derived from remnant of embryonic Rathke’s pouch. Presentation of RCC can be incidental however in larger cysts, presentation can be with headaches, visual deterioration and pituitary and endocrine dysfunction. Here we report a rare case of identical twin boys with Rathke cleft cysts highlighting the likely genetically driven development of cyst in this identical twin and need for cranial imaging in identical twins with anomalies of the brain.

Effectiveness of Intake of Aloe Vera Juice in Reducing the Symptoms of Poly Cystic Ovarian Syndrome among Reproductive Age Group in Tertiary Care Hospital, Puducherry, India

Introduction: Polycystic ovarian syndrome is a health disorder that is prevalent among women in the child bearing age. This disease is described by the development of multiple cysts in the ovaries due to inability of follicles to release mature eggs. To evaluate the effectiveness of intake of aloe vera juice in reducing the symptoms of poly cystic ovarian syndrome among reproductive age group . Methods: Polycystic ovarian syndrome is a health disorder that is prevalent among women in the child bearing age. This disease is described by the development of multiple cysts in the ovaries due to inability of follicles to release mature eggs. Results: The finding shows that the experimental group had significant positive changes in the normal uterine size by 10% to 23.3% and positive changes in the right and left ovaries sizes which can imply that Aloe Vera has therapeutic effect on reproductive health. Post-assessment comparison revealed significant differences in uterus and left ovary sizes between the groups, with p-values of 0.005 and 0.004, respectively. Conclusion: The study concluded that aloe vera juice is effective in reducing the symptoms of poly cystic ovarian syndrome among reproductive age group. However, the results of this study need to be confirmed with larger samples and longer follow-up studies designed and powered for safety outcomes.

EZH2 inhibition or genetic ablation suppresses cyst growth in autosomal dominant polycystic kidney disease

BackgroundAutosomal Dominant Polycystic Kidney Disease (ADPKD) is a prevalent genetic disorder characterized by the formation of renal cysts leading to kidney failure. Despite known genetic underpinnings, the variability in disease progression suggests additional regulatory layers, including epigenetic modifications.MethodsWe utilized various ADPKD models, including Pkd1 and Ezh2 conditional knockout (Pkd1delta/delta:Ezh2delta/delta) mice, to explore the role of Enhancer of Zeste Homolog 2 (EZH2) in cystogenesis. Pharmacological inhibition of EZH2 was performed using GSK126 or EPZ-6438 across multiple models.ResultsEZH2 expression was significantly upregulated in Pkd1−/− cells, Pkd1delta/delta mice, and human ADPKD kidneys. EZH2 inhibition attenuates cyst development in MDCK cells and a mouse embryonic kidney cyst model. Both Ezh2 conditional knockout and GSK126 treatment suppressed renal cyst growth and protected renal function in Pkd1delta/delta mice. Mechanistically, cAMP/PKA/CREB pathway increased EZH2 expression. EZH2 mediated cystogenesis by enhancing methylation and activation of STAT3, promoting cell cycle through p21 suppression, and stimulating non-phosphorylated β-catenin in Wnt signaling pathway. Additionally, EZH2 enhanced ferroptosis by inhibiting SLC7A11 and GPX4 in ADPKD.ConclusionOur findings elucidate the pivotal role of EZH2 in promoting renal cyst growth through epigenetic mechanisms and suggest that EZH2 inhibition or ablation may serve as a novel therapeutic approach for managing ADPKD.

An osmolarity dependent mechanism partially ameliorates retinal cysts and rescues cone function in a mouse model of X-linked retinoschisis.

X-linked retinoschisis (XLRS) is a vitreoretinal dystrophy caused by RS1 gene mutations which disrupt retinoschisin-1 (RS1) function. Vital for retinal architecture, the absence of functional RS1 leads to the development of intraretinal cysts. Intravitreal injection of a gene therapy for treating XLRS caused ocular inflammation in high dose groups in a phase I/II clinical trial. This study investigates a low dose subretinal gene therapy in Rs1 knockout (Rs1-KO) mice compared to injection of buffer alone. Observation of an unexpected therapeutic effect following the subretinal injection of the hypertonic buffer led to novel findings in XLRS. Rs1-KO mice were subretinally injected with an AAV2/4 vector (n = 10) containing the RS1 gene driven by an Ef1α promoter, a hypertonic buffer (n = 15) (180 mM NaCl 0.001% F68/PBS (pH 7.4)), or isotonic buffer (n = 7) (155.2 mM NaCl 0.001% F68/PBS, pH 7.0). A sham puncture group was also included (n = 6). Endpoints included electroretinogram (ERG), optical coherence tomography (OCT), a visually guided swim assay (VGSA), and immunohistochemistry. Unexpectedly, hypertonic buffer-injected eyes had reduced cyst severity at 1-month post-injection (MPI) (p < 0.0001), higher amplitudes in cone-dominant ERGs persisting to 5 MPI (5 Hz flicker; p < 0.0001; 3.0 flash; p = 0.0033) and a trend for improved navigational vision in the light compared to untreated Rs1-KO eyes. To investigate the role of tonicity on this effect, an isotonic buffer-injected cohort was created (155.2 mM NaCl 0.001% F68/PBS, pH 7.0) (n = 7). Surprisingly, hypertonic buffer-injected eyes exhibited a greater reduction in cyst severity and demonstrated improved cone-dominant ERG metrics over isotonic buffer-injected and sham puncture eyes. An immunohistochemistry assay demonstrated greater cone density in hypertonic buffer-injected eyes than untreated Rs1-KO eyes at 5-6 MPI (p = 0.0198), suggesting a possible cone preservation mechanism. Moreover, our findings reveal a negative correlation between the peak severity of cysts and long-term ERG amplitudes in cone-dominant pathways, implying that effectively managing cysts could yield enduring benefits for cone function. This study presents evidence that cyst resolution can be triggered through an osmolarity-dependent pathway, and early cyst resolution has long-term effects on cone signaling and survival, offering potential insights for the development of novel treatments for XLRS patients.

Prospective Outcomes of Standardized Non-operative Management of Pancreatic Trauma With Ductal Injury in Children: Less is More

BackgroundTraumatic pancreatic laceration with ductal injury in children can be managed non-operatively (NOM); however, variable management affects outcomes. We hypothesized that a standardized management approach with early feeding and limited resource utilization is safe and improves outcomes. MethodProspective, multicenter study of 13 pediatric trauma centers (2018–2022). Children with blunt pancreatic trauma with ductal injury were managed per a standard NOM pathway. Outcomes were compared to a historical NOM cohort with variable management. ResultsOf 22 patients, the median age was 7.5 years (range 1–14 years). Low-fat diet was started at median 4 days [IQR 2–7] and median hospital stay was 8 days [IQR 4–10]. One patient failed NOM and underwent distal pancreatectomy. Of the rest, most (17/21, 81%) had early recovery and discharged in median 6 days [IQR 4–8.25] while 4 (19%) had prolonged recovery (median stay 24 days, IQR 19.8–30.5) and higher peri-pancreatic cyst development (early 23.5% vs prolonged 75%,p = 0.05). Pancreatic ascites at presentation correlated with cyst development (p < 0.0001). Endoscopic stent (optional) was placed in 33% and did not prevent cyst development. Delayed exocrine pancreatic insufficiency was noted in 1 patient. Compared to the historic cohort (32 patients), TPN use was lower (pre-protocol 56% vs post 23%, p = 0.02), days to diet was shorter (pre-protocol 7 vs post 4; p = 0.03), and cyst development was lower (pre-protocol 81% vs post 33%, p < 0.001). ConclusionChildren with traumatic pancreatic ductal injury can be safely managed per the PTS NOM clinical pathway and most recover rapidly. Pancreatic ascites may predict pseudocyst formation. Levels of EvidenceIV. Study type: therapeutic, comparative.

Matching clinical and genetic data in pediatric patients at risk of developing cystic kidney disease.

Cystic kidney disease is a heterogeneous group of hereditary and non-hereditary pathologic conditions, associated with the development of renal cysts. These conditions may be present both in children and adults. Cysts can even be observed already during the prenatal age, and pediatric patients with cysts need to be clinically monitored. An early clinical and genetic diagnosis is therefore mandatory for optimal patient management. The aim of this study was to perform genetic analyses in patients with echographic evidence of kidney cysts to provide an early molecular diagnosis. A cohort of 70 pediatric patients was enrolled and clinically studied at the time of first recruitment and at follow-up. Genetic testing by clinical exome sequencing was performed and a panel of genes responsible for "cystic kidneys" was analyzed to identify causative variants. Sanger validation and segregation studies were exploited for the final classification of the variants and accurate genetic counseling. Data showed that 53/70 of pediatric patients referred with a clinical suspicion of cystic kidney disease presented a causative genetic variant. In a significant proportion of the cohort (24/70), evidence of hyper-echogenic/cystic kidneys was already present in the prenatal period, even in the absence of a positive family history. This study suggests that cystic kidney disease may develop since the very early stages of life and that screening programs based on ultrasound scans and genetic testing play a critical role in diagnosis, allowing for better clinical management and tailored genetic counseling to the family.

Cell State Transition Associated with Cyst Development in Autosomal Dominant Polycystic Kidney Disease

Cell State Transition Associated with Cyst Development in Autosomal Dominant Polycystic Kidney Disease

Association Between Metabolic Syndrome and the Size of Renal Cysts: A Cross-Sectional Study.

Metabolic syndrome (MetS) is associated with the development of several diseases. However, the correlation between MetS and size of renal cysts remains unclear. This research aims to explore the potential connection between them, offering theoretical guidance for clinical prevention and treatment of renal cysts. A total of 467 patients diagnosed with renal cysts and admitted to Sir Run Run Hospital, Nanjing Medical University from September 2019 to September 2020 were eventually included in this study. They were divided into the small cyst group (cyst volume≤1.5cm³) and the large cyst group (cyst volume>1.5cm³) based on the median value of cyst volume. Multivariate logistic regression analysis was used to evaluate the association between MetS and size of renal cysts. Our results indicated that MetS (OR 1.941, 95% CI 1.286-2.927, P=0.002) was positively associated with the size of renal cysts. Additionally, multiple renal cysts (OR 2.259, 95% CI 1.402-3.640, P=0.001) and serum globulin (OR 0.945, 95% CI 0.905-0.987, P=0.011) were positively and negatively related to size of renal cysts, respectively. Our study reveals the association between MetS and the size of renal cysts. Patients with MetS are more likely to have larger renal cysts. The administration of MetS may help limit the development of renal cysts. Further prospective studies are needed to explore the causal relationship between MetS and renal cysts.

Role of Pannexin-1/P2X7 Interaction in Kidney Cyst Development

Role of Pannexin-1/P2X7 Interaction in Kidney Cyst Development

Management of Dens in Dente in Mesiodens (A Rare : Case Report)

Dens in dente in mesiodens is rare. Supernumerary teeth cause various complications such as failure of eruption of permanent teeth, malocclusion, development of cyst and various pathologies. So, management of such anomalies are important.

R-954, a bradykinin B1 receptor antagonist, as a potential therapy in a preclinical endometriosis model

Endometriosis is a gynecological condition characterized by the growth of endometrium-like tissues outside of the uterine cavity. Currently available drugs are efficacious in treating endometriosis-related pain, however it’s not a targeted treatment. The aim of this work is to evaluate the effects of R-954, a bradykinin B1 receptor antagonist, in a murine model of endometriosis. The model was induced in animals through autologous transplantation of part of the uterine horn. After 51 days, it was observed that implants developed into endometriotic lesions. The administration of R-954 or progesterone, for 15 consecutive days, prevented the progression of cyst development, reduced the size and weight of the cysts. Both treatments also reduced cellular infiltrate and production of inflammatory mediators (interleukin-1β, interleukin-6, tumor necrosis factor). However, only R-954 decreased angiogenic factors (VEGF and VEGF receptor). In addition, treatment with the antagonist did not interfere in the females’ estrous cycle, as well as prevented gestational losses (reduction in the number of intermediate resorptions in pregnant females with endometriosis). Data suggested that R-954 has anti-inflammatory and anti-angiogenic effects; does not influence the estrous cycle; and prevents the number of gestational losses suggesting it as a good candidate for endometriosis treatment.

Simultaneous lesions of complex odontoma associated with dentigerous cyst: case report and critical review in CBCT

Objectives: To our knowledge, there is limited evidence reporting cystic lesions associated with odontoma. Therefore, this case report aims to describe the clinical, histological, and particularly the characteristic cone beam computed tomography (CBCT) diagnostic features . Case Report: A 20-year-old male patient presented with a complaint of a lump in the upper right jaw. There was no history of systemic disease. A panoramic radiograph showed a solid radio-opaque mass surrounded by an osteolytic lesion with a radio-opaque margin causing impaction of the maxillary canine. Given the limitations of panoramic radiography in assessing lesion extent, a CBCT examination was performed. Multiplanar reconstruction revealed a well-defined unilocular hyperdense lesion with a hypodense encapsulation and corticated margin, measuring 31.5 x 32 mm, expanding the buccal cortical plate and pushing the upper right canine tooth into the maxillary sinus cavity. The extensive expansion of the lesion required histopathological analysis to confirm the final diagnosis. The histopathological examination concluded a dentigerous cyst. Conclusion: Several reports in the literature discuss the development of cysts and tumors in the jaw, but some cases are very difficult to identify. The variability of lesions can complicate pattern identification, leading to misinterpretation of conventional radiographs, thus requiring additional CBCT evaluation.

Impaired Glucose Metabolism, Primary Cilium Defects, and Kidney Cystogenesis in Glycogen Storage Disease Type Ia.

Glycogen Storage Disease type Ia (GSDIa) is a rare metabolic disorder caused by mutations in the catalytic subunit of glucose-6 phosphatase (G6PC1). This leads to severe hypoglycemia and most young GSDIa patients develop CKD. The kidney pathology is characterized by the development of cysts, which typically occur at an advanced stage of CKD. To elucidate the molecular mechanisms responsible for cyst formation, we characterized renal metabolism, molecular pathways involved in cell proliferation and integrity primary cilium integrity, using mice in which G6pc1 was specifically deleted in the kidney from in utero stage. GSDIa mice exhibited renal fibrosis, high-inflammation, and cyst formation, leading to kidney dysfunction. In addition, the loss of G6PC1 led to the ectopic accumulation of glycogen and lipids in the kidneys, and a metabolic shift towards a Warburg-like metabolism. This metabolic adaptation was due to an excess of glucose-6 phosphate, which supports cell proliferation, driven by the MEK/ERK and AKT/mTOR pathways. Treatment of GSDIa mice with rapamycin, a target of the mTOR pathway, reduced cell proliferation and kidney damage. Our results also identified lipocalin 2 as a contributor to renal inflammation and an early biomarker of CKD progression in GSDIa mice. Its inactivation partially prevented kidney lesions in GSDIa. Importantly, primary cilium defects were observed in the kidneys of GSDIa mice. Metabolic adaptations due to glucose-6 phosphate accumulation in GSDIa renal tubules, towards a Warburg-like metabolism, appeared to promote cell proliferation and cyst formation in a similar manner to that observed in various cystic kidney diseases. This was associated with down-regulation of primary cilium gene expression and consequently, altered cilium morphology.

Ketogenic Interventions in Autosomal Dominant Polycystic Kidney Disease: A Comprehensive Review of Current Evidence.

Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a genetic disorder characterized by the development and enlargement of multiple kidney cysts, leading to progressive kidney function decline. To date, Tolvaptan, the only approved treatment for this condition, is able to slow down the loss of annual kidney function without stopping the progression of the disease. Furthermore, this therapy is approved only for patients with rapid disease progression and its compliance is problematic because of the drug's impact on quality of life. The recent literature suggests that cystic cells are subject to several metabolic dysregulations, particularly in the glucose pathway, and mitochondrial abnormalities, leading to decreased oxidative phosphorylation and impaired fatty acid oxidation. This finding paved the way for new lines of research targeting potential therapeutic interventions for ADPKD. In particular, this review highlights the latest studies on the use of ketosis, through ketogenic dietary interventions (daily calorie restriction, intermittent fasting, time-restricted feeding, ketogenic diets, and exogenous ketosis), as a potential strategy for patients with ADPKD, and the possible involvement of microbiota in the ketogenic interventions' effect.

Cyclin-dependent kinase 4 drives cystic kidney disease in the absence of mTORC1 signaling activity

Progression of cystic kidney disease has been linked to activation of the mTORC1 signaling pathway. Yet the utility of mTORC1 inhibitors to treat patients with polycystic kidney disease remains controversial despite promising preclinical data. To define the cell intrinsic role of mTORC1 for cyst development, the mTORC1 subunit gene Raptor was selectively inactivated in kidney tubular cells lacking cilia due to simultaneous deletion of the kinesin family member gene Kif3A. In contrast to a rapid onset of cyst formation and kidney failure in mice with defective ciliogenesis, both kidney function, cyst formation discerned by magnetic resonance imaging and overall survival were strikingly improved in mice additionally lacking Raptor. However, these mice eventually succumbed to cystic kidney disease despite mTORC1 inactivation. In-depth transcriptome analysis revealed the rapid activation of other growth-promoting signaling pathways, overriding the effects of mTORC1 deletion and identified cyclin-dependent kinase (CDK) 4 as an alternate driver of cyst growth. Additional inhibition of CDK4-dependent signaling by the CDK4/6 inhibitor Palbociclib markedly slowed disease progression in mice and human organoid models of polycystic kidney disease and potentiated the effects of mTORC1 deletion/inhibition. Our findings indicate that cystic kidneys rapidly adopt bypass mechanisms typically observed in drug resistant cancers. Thus, future clinical trials need to consider combinatorial or sequential therapies to improve therapeutic efficacy in patients with cystic kidney disease.

Development of a tibial intraneural ganglion cyst after surgery on a peroneal intraneural ganglion in a pediatric patient: further support for the articular origin of intraneural ganglion cysts. Illustrative case.

The articular origin of intraneural cysts has been previously described and well supported. Intraneural ganglion cysts most commonly occur in adults and in the common peroneal nerve arising from the anterior aspect of the superior tibiofibular joint (STFJ). The authors report a pediatric patient who developed a tibial intraneural cyst arising from the posterior aspect of the STFJ within months after surgical treatment of a peroneal intraneural cyst from the anterior aspect of the same joint. Surgery consisted of disconnecting the articular branch of the peroneal nerve and decompression of the cyst. Three-month postoperative magnetic resonance imaging showed resolution of the peroneal intraneural cyst and anterior compartment denervation but demonstrated a clinically occult small tibial intraneural ganglion cyst arising from the STFJ with popliteus muscle atrophy. This case underscores the importance of addressing the underlying etiology (articular synovitis) or the communication pathways (articular branches) whenever feasible to mitigate intraneural cyst recurrence. Furthermore, this report reinforces the validity of the articular theory. https://thejns.org/doi/10.3171/CASE24277.

Unilateral Renal Cystic Disease

Background: Unilateral renal cystic disease of kidney is a non familial and non progressive disorder, characterized by replacement of the renal parenchyma by a cluster of multiple cysts with a normal contralateral kidney. Case: A 2-day-old newborn baby came to the Urology Department of the Perinatology Department of Andalas University Hospital. The baby with prenatal ultrasound results showed unilateral hydronephrosis and multicystic kidneys. From the postnatal ultrasound, it was found: The right kidney was normal in shape and size; clear differentiation of the cortex and medulla; the pelvic calyx system was not dilated; No stones were seen; There were multiple cystic lesions with regular borders in the renal cortex, the largest cyst size was 5.5x4 cm. The left kidney was normal in shape and size; clear differentiation of the cortex and medulla; The pelvic calyx system was not dilated; No stones or sludge were seen. The impression of multiple renal cysts. The patient was followed up for renal function and cyst development. Conclusion : This case highlights the importance of early diagnosis and follow-up in infants with unilateral renal cystic lesions. Differentiating URCD from other cystic renal diseases is essential for appropriate management and counseling. Further studies are needed to elucidate the pathogenesis and long-term outcomes of URCD.

CITED1 expression in odontogenic cysts

BackgroundOriginating from odontogenic tissue, Odontogenic cysts are pathological cavities lined with epithelial cells and surrounded by fibrous connective tissue. This study investigated expression of CITED1 protein in different types of odontogenic cysts.Material and method40 keratocysts, 40 radicular cysts, and 40 dentigerous cysts were excised and processed for routine paraffin wax embedding protocol. Macroscopic and panoramic radiographies images were used for diagnosis. Demographical properties and dental parameters were recorded. Cystic tissues were stained with hematoxylin-eosin dye and CITED1 antibody. Semi-quantitative analysis was performed for immune staining. The protein-protein interaction network, hub gene detection and KEGG analysis were conducted using Cytoscape software.ResultOdontogenic keratocysts was imaged with 6–8 layered epithelial cells and fibrous cyst walls with inflammatory cells. Radicular cysts had stratified squamous epithelium with varying thickness, ciliated cells, and Rushton hyaline bodies. Dentigerous cysts presented hyperplastic non-keratinized epithelium, fibrous tissue, rete ridges, and inflammatory cells. CITED1 immunoexpression was highest in odontogenic keratocysts, followed by radicular cysts, and lowest in dentigerous cysts. Nuclear and cytoplasmic CITED1 expression was significantly elevated in odontogenic keratocysts compared to radicular and dentigerous cysts. The top five targets of CITED1 were identified, primarily showing enrichment in hormone and cancer related pathways.ConclusionsPositive CITED1 expression in all three types of odontogenic cysts suggest a potential role for CITED1 in the pathogenesis of odontogenic cysts, particularly in keratocysts. Further investigations are needed to elucidate the exact mechanisms underlying the differential expression of CITED1 and its implications for the development and progression of odontogenic cysts.

Assessment of variations in the nasopalatine canal on CBCT: considerations from an anatomical point of view.

The nasopalatine canal (NPC) is one of the most significant anatomical markers in the anterior maxillary region. Its location is quite important, especially for implant placement. Therefore, the purpose of this study was to use cone-beam computed tomography (CBCT) to evaluate the morphology, size, and anatomic variations of the NPC. A total of 150 individual CBCT images were assessed in various sections to evaluate the dimensions, morphology, and extent of the NPC. Reformatted sagittal images were chosen to classify the shape and course of the canal. The Student's t-test, the χ² test, and Pearson correlation coefficients were used. The NPC was longer in males than in females, and the mediolateral diameter of the canal was greater in older adults. In sagittal sections, the canal predominantly exhibits a cylindrical shape, while a spindle shape is the least common. In coronal sections, a single shape is most frequently observed, with a Y-shape being the least common. Regarding the orientation of the canal, slanted canals are more prevalent, whereas vertically curved canals are rare. Typically, 2 canal openings are observed, with 4 openings being the least common. The current study highlights the challenges associated with identifying the anatomical appearance and variations of the NPC. Consequently, possessing a thorough understanding of this anatomy is essential before undertaking any surgical procedures, such as implant placement. This knowledge helps prevent complications such as nerve injury-related loss of sensation, bleeding due to blood vessel injury, and the development of a nasopalatine duct cyst following trauma to the canal during surgery.

Mental Health and Autosomal Dominant Polycystic Kidney Disease: A Narrative Review.

Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder marked by the development of cysts in the kidneys and other organs, leading to diverse clinical manifestations, including kidney failure. The psychological burden of ADPKD is substantial, with significant contributors including pain, daily life disruptions, depression, anxiety, and the guilt associated with transmitting ADPKD to offspring. This review details the psychological impacts of ADPKD on patients, addressing how they navigate physical and emotional challenges, including pain management, genetic guilt, mood disorders, and disease acceptance. This review also underscores the need for comprehensive research into the psychological aspects of ADPKD, focusing on the prevalence and contributing factors of emotional distress and identifying effective strategies for managing anxiety and depression. Furthermore, it highlights the importance of understanding the diverse factors that influence patients' quality of life and advocates for holistic interventions to address these psychological challenges.