Search results for "Cyst"
showing 10 items of 1960 documents
Microsurgical fenestration of perineural cysts to the thecal sac at the level of the distal dural sleeve
2011
Background Surgery for symptomatic sacral perineural cysts remains an issue of discussion. Assuming micro-communications between the cyst and thecal sac resulting in a valve mechanism and trapping of CSF as a pathomechanism, microsurgical fenestration from the cyst to the thecal sac was performed to achieve free CSF communication. Methods In 13 consecutive patients (10 female, 3 male), MRI revealed sacral perineural cysts and excluded other pathologies. Micro-communication between the thecal sac and the cysts was shown by delayed contrast filling of the cysts on postmyelographic CT. Surgical fenestration achieved free CSF communication between the thecal sac and cysts in all patients. The p…
Acute onset of esophageal duplication cyst in adult. Case report.
2009
Esophageal duplication (ED) cyst is unusual congenital disorder of the foregut, accounting for 10% to 15% of duplications of all foregut cysts. We report a case of esophageal duplication with acute clinical presentation, treated successfully with surgical resection.46-year-old man with acute dysphagia and gastroesophageal reflux of 2 weeks duration, showed submucosal bulging mass in the posterior wall of the middle third of oesophagus, fluid-filled cystic structure, dyshomogeneous, low-attenuation mass with smooth borders compatible with an hemorrhagic esophageal duplication cyst. With the suspect of acute presentation of a complicated esophageal cyst, the patient underwent surgery by right…
TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model
2019
Genetic mutations in TBC1D24 have been associated with multiple phenotypes, with epilepsy being the main clinical manifestation. The TBC1D24 protein consists of the unique association of a Tre2/Bub2/Cdc16 (TBC) domain and a TBC/lysin motif domain/catalytic (TLDc) domain. More than 50 missense and loss-of-function mutations have been described and are spread over the entire protein. Through whole genome/exome sequencing we identified compound heterozygous mutations, R360H and G501R, within the TLDc domain, in an index family with a Rolandic epilepsy exercise-induced dystonia phenotype (http://omim.org/entry/608105). A 20-year long clinical follow-up revealed that epilepsy was self-limited in…
Eruption cysts: A series of 66 cases with clinical features
2016
BAYRAK, SULE/0000-0001-7023-2358; Tuloglu, Nuray/0000-0001-6410-9126 WOS: 000399208700014 PubMed: 28160586 Background: An eruption cyst (EC) is a benign, developmental cyst associated with a primary or permanent tooth. This paper presents 66 ECs in 53 patients who reported to 3 different centers in Turkey between 2014-2015. Material and Methods: 53 patients (31 male, 22 female) with 66 ECs were diagnosed and treated over a 1-year period. The mean age of patients was 5.4 years (minimum 5 months, maximum 11 years). Clinical examination and periapical radiographs were used to establish diagnosis. Age, gender, site, history of trauma and type of treatment were recorded. Results: Of the 66 ECs d…
Stage-specific germ-cell marker genes are expressed in all mouse pluripotent cell types and emerge early during induced pluripotency.
2011
Embryonic stem cells (ESCs) generated from the in-vitro culture of blastocyst stage embryos are known as equivalent to blastocyst inner cell mass (ICM) in-vivo. Though several reports have shown the expression of germ cell/pre-meiotic (GC/PrM) markers in ESCs, their functional relevance for the pluripotency and germ line commitment are largely unknown. In the present study, we used mouse as a model system and systematically analyzed the RNA and protein expression of GC/PrM markers in ESCs and found them to be comparable to the expression of cultured pluripotent cells originated from the germ line. Further, siRNA knockdown experiments have demonstrated the parallel maintenance and independen…
Cardiovascular risk factors and the impact on prognosis in patients with chronic kidney disease secondary to autosomal dominant polycystic kidney dis…
2021
Background: Autosomal dominant polycystic kidney disease (ADPKD) is the most frequent hereditary renal disease. There is an increased rate of cardiovascular disease (CVD) in ADPKD. In this study, we evaluate the prevalence of cardiovascular risk factors, the achievement rates for treatment goals and cardiovascular events (CVE) in ADPKD and their relations with asymptomatic CVD in CKD from other etiologies (CKDoe) and controls. Methods: We evaluated 2445 CKD patients (2010–2012). The information collected was: clinical, anthropometric and analytical parameters, treatments and CVD evaluation (intima-media thickness (IMT), atheromatous plaque presence and ankle-brachial index (ABI)). Laborator…
Nitric oxide as neuromodulator of sympathetic transmission in rat vas deferens.
1998
Summary Electrical field stimulation (EFS) of muscle strips in vitro elicited a tetrodotoxin (TTX)-sensitive biphasic contractile response consisting of a phasic component followed by a tonic one. The amplitude of both components of the response was impaired by Nω-nitro-L-arginine and potentiated by sodium nitroprusside. Cystamine caused a reduction in amplitude of both phasic and tonic componets of the response to EFS. Neither Nω-nitro-L-arginine, sodium nitroprusside, nor cystamine induced changes in the resting muscle tone, or in the contractile response to exogenous agonists ATP and noradrenaline (NA). The nitric oxide scavenger, 2-phenyl-4,4,5,5-tetramethylimidazoline-1-oxyl-3-oxide, i…
Epidermal Growth Factor Receptor (EGFR) Cell Expression During Adjuvant Treatment After Transurethral Resection for Non-Muscle-Invasive Bladder Cance…
2019
Abstract Background The aim of the study was to investigate the feasibility of Epidermal Growth Factor Receptor (EGFR) measurement in bladder washings of patients affected by non–muscle-invasive bladder cancer (NMIBC) and its prognostic role in identifying risk subgroups and predicting disease recurrence and progression. Patients and Methods Patients with NMIBC treated with transurethral resection of bladder tumor (TURBT) from 2012 to 2015 were enrolled. Samples of bladder washings were collected and stored at −80°C until RNA extraction. The cDNA obtained from RNA was used to perform a gene expression analysis by a real time polymerase chain reaction. Results An adequate cellular pellet was…
Oral administration of pharmacological doses of Vitamins C and E reduces reproductive fitness and impairs the ovarian and uterine functions of female…
2002
This study aims to ascertain whether oral administration of pharmacological doses of Vitamins C and E has any detrimental effect on reproductive fitness of female mice. We fed hybrid female mice from the first day of weaning a standard diet supplemented or not supplemented with pharmacological doses of Vitamins C and E. At the age of 28 weeks, we individually caged females with a male for the rest of their reproductive life. We performed a series of mating experiments to ascertain the number of oocytes ovulated and the potential for embryo development in vitro to the blastocyst stage and in vivo to Day 12 of gestation. The antioxidant diet decreased the frequency of litters, litter size, to…
Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutatio…
2015
Background Hereditary Fibrosing Poikiloderma (HFP) with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP [MIM 615704]) is a very recently described entity of syndromic inherited poikiloderma. Previously by using whole exome sequencing in five families, we identified the causative gene, FAM111B (NM_198947.3), the function of which is still unknown. Our objective in this study was to better define the specific features of POIKTMP through a larger series of patients. Methods Clinical and molecular data of two families and eight independent sporadic cases, including six new cases, were collected. Results Key features consist of: (i) early-onset poikiloderma, hypotrichosis and hypoh…