The emerging role of long non-coding RNAs, microRNAs, and an accelerated epigenetic age in Huntington’s disease

Huntington’s disease (HD) is a dominantly inherited neurodegenerative disease with variable clinical manifestations. Recent studies highlighted the contribution of epigenetic alterations to HD progress and onset. The potential crosstalk between different epigenetic layers and players such as aberrant expression of non-coding RNAs and methylation alterations has been found to affect the pathogenesis of HD or mediate the effects of trinucleotide expansion in its pathophysiology. Also, microRNAs have been assessed for their roles in the modulation of HD manifestations, among them are miR-124, miR-128a, hsa-miR-323b-3p, miR-432, miR-146a, miR-19a, miR-27a, miR-101, miR-9*, miR-22, miR-132, and miR-214. Moreover, long non-coding RNAs such as DNM3OS, NEAT1, Meg3, and Abhd11os are suggested to be involved in the pathogenesis of HD. An accelerated DNA methylation age is another epigenetic signature reported recently for HD. The current literature search collected recent findings of dysregulation of miRNAs or lncRNAs as well as methylation changes and epigenetic age in HD

The emerging role of long non-coding RNAs, microRNAs, and an accelerated epigenetic age in Huntington’s disease

Huntington’s disease (HD) is a dominantly inherited neurodegenerative disease with variable clinical manifestations. Recent studies highlighted the contribution of epigenetic alterations to HD progress and onset. The potential crosstalk between different epigenetic layers and players such as aberrant expression of non-coding RNAs and methylation alterations has been found to affect the pathogenesis of HD or mediate the effects of trinucleotide expansion in its pathophysiology. Also, microRNAs have been assessed for their roles in the modulation of HD manifestations, among them are miR-124, miR-128a, hsa-miR-323b-3p, miR-432, miR-146a, miR-19a, miR-27a, miR-101, miR-9*, miR-22, miR-132, and miR-214. Moreover, long non-coding RNAs such as DNM3OS, NEAT1, Meg3, and Abhd11os are suggested to be involved in the pathogenesis of HD. An accelerated DNA methylation age is another epigenetic signature reported recently for HD. The current literature search collected recent findings of dysregulation of miRNAs or lncRNAs as well as methylation changes and epigenetic age in HD

The Therapeutic Effect of Endoscopic Tumor Resection on Acromegalic Cardiomegaly in Patients With Pituitary Adenoma

Background: Acromegaly defines as chronic elevations of insulin-like growth factor-1 (IGF-1) and growth hormone (GH), which results in enlargement of organs and soft tissues. Cardiovascular complications of acromegaly such as cardiomegaly, hypertension contributing to a high risk of cardiovascular events. This study aimed to identify the determinants of the prevalence of cardiomegaly as cardiovascular comorbidity of acromegaly and the potential effect of the curative intervention.Methods: A total of 160 patients with acromegaly due to pituitary adenoma participated in this study. Acromegaly diagnosed was based on clinical manifestations, age-adjusted plasma IGF-I, and elevated plasma GH levels, not suppressible during an oral glucose tolerance test (75 g). Electrocardiogram and chest X-ray obtained in all patients. Treatment approaches included transsphenoidal surgery and hormonal evaluation performed before and six months after surgery.Results: The GH serum level was elevated in all patients before surgery, with a mean of 33.7 ng/mL that reached 5.7 ng/mL after surgery. Mean IGF-1 was 794.1 ng/mL that reached 395.6 ng/mL postoperatively. The prevalence of cardiomegaly was 15% that improved in 5% of patients after trans sphenoidal surgery.Conclusion: Appropriate surgical intervention in acromegaly that complicated by cardiomegaly may result in significant improvement of the cardiac structure

A Case Report of Calcifying Pseudoneoplasm of the Neuraxis: An Incidental Finding After a Car Accident

Calcifying pseudoneoplasms of the neuraxis are rare, poorly understood lesions that can occur anywhere in the central nervous system without any age or sex predilection. Their pathogenesis is still controversial. Patients can present with various symptoms due to lesion location and only few cases have been discovered incidentally. We present a 25-year-old male referred to our hospital after a car accident. Computed tomography scan and magnetic resonance imaging was done because of the patient's head trauma and a calcified intracranial lesion was found and excised surgically. Pathologic evaluation of the specimen was consistent with the diagnosis of calcifying pseudoneoplasm of the neuraxis

Quality of Life in Acromegaly Disease Among Iranian Population:One Longitudinal Before-After Study

Background: The current study aimed to determine the quality of life (QoL) scores before and after treatment in patients with acromegaly.Methods: In this longitudinal before-after study, the acromegaly quality of life (AcroQoL) questionnaire was used to assess the QoL. Demographics, clinical manifestations and co-morbidity data, pituitary axis involvement, biochemical and hormonal component tests, and health-related quality of life (HRQoL) before and after treatment (endoscopic transsphenoidal surgery, medication, radiotherapy) were evaluated in patients over 18 years of age. To compare the mean of continuous data, the independent t and Mann–Whitney tests were used. To compare the mean QOL score before and after the study, the paired-t and Wilcoxon tests were performed. The significance level was set at p<0.05.Results: Among 80 patients with acromegaly who underwent trans-sphenoid surgery with or without radiotherapy or medication therapy with somatostatin analogs, 52 (65%) entered the remission phase within 6 months. Associations were found between the remission phase and female gender (p=0.004) and lower growth hormone (GH) (p=0.04) but not between remission and lower insulin-like growth factor-I (IGF1) after surgery (p=0.02) or gonadal axis disorder after treatment (p<0.001) statistically. Moreover, a significant association was found between not being in the remission phase and gonadal axis disorder before treatment (p=0.04). The QoL score in all dimensions of the AcroQoL questionnaire increased 6 months after treatment (p<0.001). Total AcroQoL score was higher after treatment in the remission group (p=0.03). The psychological scale had a significantly higher score both on the total scale (p<0.001) and on the two subscales of appearance (p<0.001) and personal relationship (p=0.003).Conclusion: Because of the importance of QoL in acromegaly patients, further studies in this field are recommended

Prevalence of Cerebrospinal Fluid Rhinorrhea Following Trans-Sphenoidal Surgery for Pituitary Adenoma in Patients Referred to Loghman Hakim Hospital from 2016 to 2020

Background: Endoscopic endonasal transsphenoidal surgery is commonly used to remove pituitary adenomas. However, it can lead to cerebrospinal fluid (CSF) leakage, with an incidence of around 5% in sphenoid transnasal procedures and up to 20% in extended endonasal approaches. A retrospective study was conducted on 160 pituitary adenoma patients admitted to Loghman Hakim Hospital from 2016 to 2020 to evaluate the factors influencing CSF leak. Aim: The aim of this study was evaluating the occurrence of cerebrospinal fluid leakage and analyzing the factors involved. Methods: This is a retrospective analysis of patients diagnosed with pituitary adenoma at Loghman-Hakim hospital over a four-year period. Demographic information, tumor characteristics, surgical procedures, and complications were collected. All patients gave their consent, and the study was approved by the ethics committee. Surgical procedures were conducted using a direct endonasal trans-sphenoidal approach under general anesthesia, and antibiotics were given. Statistical analysis was conducted using SPSS to evaluate the relation between measured variables and the occurrence of CSF leak. Results: The study found that 19.4% of the patients developed CSF leak during their hospital stay. Age and body mass index (BMI) of patients with CSF leak significantly differed from those without. The size of the tumor did not differ significantly between patients with and without CSF leak. The only variable associated with CSF leak was sphenoid sinus anatomy. Conclusion: The study concluded that older patients with a lower BMI and a larger defect size are more prone to CSF leak, but no significant difference was found in tumor size between the groups with and without CSF leak. Sphenoid sinus anatomy correlated with CSF leak, while other factors did not show any correlation with the incidence of CSF leak

Normal Pressure Hydrocephalus Presentation with a Large Pseudomeningocele

Background and Importance: This interesting case is about the presence of normal pressure hydrocephalus and a large pseudomeningocele at the same time after 13 months of posterior fossa surgery. Although the occurrence of a pseudomeningocele following posterior fossa surgery is not so rare, such a late large pseudomeningocele development with signs and symptoms of NPH after 13 months of surgery is rather peculiar.   Case Presentation: A 59-year-old man referred to our clinic for a cerebellopontine angle tumor. The patient presented with right hearing loss and mild facial palsy. We operated the patient with retrosigmoid approach, and we discharged him after five days. After about 13 months, the patient referred to our center again with complaint of progressive bulging of previous surgical region and gait apraxia, urinary incontinence and dementia. A large pseudomeningocele in the site of previous surgery was seen. Conclusion: The authors presented a case report on late development (13 months) of a huge pseudomeningocele following vestibular schwannoma surgery with signs and symptoms of normal pressure hydrocephalus. Such a late big pseudomeningocele presentation with signs and symptoms of normal pressure hydrocephalus after posterior fossa surgery is peculiar

Symptomatic Unilateral Subdural Effusion as the First Presentation of Suprasellar Arachnoid Cyst

Background and Importance: Arachnoid cysts are benign nontumoral lesions that are usually found incidentally in brain imaging. Suprasellar Arachnoid Cysts (SSACs) are rare. They can cause hydrocephalus and increased intracranial pressure, lower cranial nerve impairment and endocrine disorder. Sometimes arachnoid cysts become complicated by subdural hematoma/hygroma.  Case Presentation: We describe a patient with a suprasellar arachnoid cyst that was complicated with symptomatic subdural effusion and increased intracranial pressure after minor trauma. Conclusion: Although these cysts are rarely complicated with subdural hematoma/hygroma, and intracystic hemorrhage, the probability of subsequent subdural hygroma and increased intracranial pressure should not be underestimated