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Polish Journal of Radiology 2021Abnormalities in melatonin physiology and circadian rhythm are detected in patients with autism. Melatonin is produced predominantly in the pineal gland and the amount...
PURPOSE
Abnormalities in melatonin physiology and circadian rhythm are detected in patients with autism. Melatonin is produced predominantly in the pineal gland and the amount of melatonin released is proportional to the pineal gland volume. This study aimed to examine whether the pineal gland volume in children with autism is different from that in healthy children.
MATERIAL AND METHODS
Brain magnetic resonance images (MRI) of 120 paediatric patients with autism and 82 control paediatric subjects were examined; pineal parenchymal volume (PPV), pineal cyst rate (PCR), and total pineal gland volume (TPGV) were measured using a multimodality viewer (MMV), but only the TPGVs were measured using a tumour tracking (TT) method. Measurements were taken by 2 separate radiologists.
RESULTS
In patients with autism, the PPV and TPGV according to MMV, and the TPGV according to TT were significantly lower, and the PCR was significantly higher. Moreover, the ratio of PPV to TPGV was significantly lower in the autism patient group. In both groups, the TPGVs were significantly lower in the autism patient group than the controls among all age groups.
CONCLUSIONS
Our study was the first to examine TPGVs in detail in paediatric patients with autism using 2 different methods. Low PPV-TPGV and high PCR have been observed in autism. This study also provides comparable reference values for pineal gland size in healthy children or autistic children aged 2-17 years. These results show promising potential for further research to understand the relationship between autism pathogenesis and the pineal gland.
PubMed: 34093919
DOI: 10.5114/pjr.2021.105689 -
Journal of the Neurological Sciences Oct 2023
Topics: Humans; Prevalence; Central Nervous System Cysts; Brain Neoplasms
PubMed: 37804791
DOI: 10.1016/j.jns.2023.120820 -
Neurology India 2021Pineal parenchymal tumors account for less than 0.3% of all CNS tumors and "Pineal parenchymal tumor of intermediate differentiation" (PPTID; World Health Organization... (Review)
Review
BACKGROUND
Pineal parenchymal tumors account for less than 0.3% of all CNS tumors and "Pineal parenchymal tumor of intermediate differentiation" (PPTID; World Health Organization (WHO) grades II and III) exhibit intermediary differentiation and prognosis. However "Papillary tumor of the pineal region" (PTPR; WHO grades II and III) is a distinct entity.
OBJECTIVES
This combination of rarity and apparent similarity often leads to perplexity regarding the treatment and prognosis among neurosurgeons. In this review, we have tried to elucidate the differences in clinical as well as treatment modalities and outcomes of these two entities.
METHODS
We used the PubMed Database to search for all relevant articles using the keywords "pineal parenchymal tumor of intermediate differentiation" and "Papillary tumor of the pineal region." Articles having details regarding demographic and clinical variables along with treatment and outcomes were chosen for this study. Full text of these articles was analyzed, and data tabulated.
RESULTS
A total of 25 articles for PPTID and 45 for PTPR were found suitable for inclusion in this study. The studies were either case reports or small retrospective series with only one systemic review for each pathology. Despite the poor quality of data, some trends were apparent. Surgical resection offered a survival benefit in both pathologies. Radiotherapy was effective in increasing the survival in PPTID, while there was little to no effect in PPTR. Chemotherapy was not found to be beneficial in either.
CONCLUSION
Both of these tumors have moderate growth rate and potential for malignant behavior. This continuum of characteristics makes their optimal treatment strategy difficult and confusing. The discussion on comprehensive literature review should give information for neurosurgeons to decide on optimal treatment strategies.
Topics: Brain Neoplasms; Humans; Pineal Gland; Pinealoma; Prognosis; Retrospective Studies
PubMed: 34747779
DOI: 10.4103/0028-3886.329550 -
NeuroImage. Clinical 2021Magnetic resonance imaging (MRI) studies reported pineal gland atrophy in schizophrenia patients and individuals at a clinical high risk of developing psychosis,...
BACKGROUND
Magnetic resonance imaging (MRI) studies reported pineal gland atrophy in schizophrenia patients and individuals at a clinical high risk of developing psychosis, implicating abnormalities in melatonin secretion in the pathophysiology of psychosis. However, it currently remains unclear whether the morphology of the pineal gland contributes to symptomatology and sociocognitive functions.
METHODS
This MRI study examined pineal gland volumes and the prevalence of pineal cysts as well as their relationship with clinical characteristics in 57 at risk mental state (ARMS) subjects, 63 patients with schizophrenia, and 61 healthy controls. The Social and Occupational Functioning Assessment Scale (SOFAS), the Schizophrenia Cognition Rating Scale (SCoRS), and the Brief Assessment of Cognition in Schizophrenia (BACS) were used to assess sociocognitive functions, while the Positive and Negative Syndrome Scale was employed to evaluate clinical symptoms in ARMS subjects and schizophrenia patients.
RESULTS
Pineal gland volumes were significantly smaller in the ARMS and schizophrenia groups than in the controls, while no significant differences were observed in the prevalence of pineal cysts. Although BACS, SCoRS, and SOFAS scores were not associated with pineal morphology, patients with pineal cysts in the schizophrenia group exhibited severe positive psychotic symptoms with rather mild negative symptoms.
CONCLUSION
The present results indicate the potential of pineal atrophy as a vulnerability marker in various stages of psychosis and suggest that pineal cysts influence the clinical subtype of schizophrenia.
Topics: Atrophy; Cysts; Humans; Magnetic Resonance Imaging; Pineal Gland; Psychotic Disorders; Schizophrenia
PubMed: 34461434
DOI: 10.1016/j.nicl.2021.102805 -
Child's Nervous System : ChNS :... Sep 2023Pineal parenchymal tumors in children are rare. They consist of two main types, pineoblastoma (PB) and pineal parenchymal tumor of intermediate differentiation (PPTID),... (Review)
Review
Pineal parenchymal tumors in children are rare. They consist of two main types, pineoblastoma (PB) and pineal parenchymal tumor of intermediate differentiation (PPTID), which are World Health Organization (WHO) grade 4 and grade 2-3 respectively. PBs are divided into four distinct molecular groups: PB-miRNA1, PB-miRNA2, PB-RB1, and PB-MYC/FOXR2. PB-RB1 and PB-MYC/FOXR2 affect young children and are associated with a dismal prognosis. PB-miRNA1 and PB-miRNA2 groups affect older children and follow a more favorable course. They are characterized by mutually exclusive alterations in genes involved in miRNA biogenesis, including DICER1, DROSHA, and DGCR8. They may be sporadic or may represent one manifestation of DICER1 syndrome. PB-RB1 tumors show alterations in the RB1 gene and may develop in the setting of congenital retinoblastoma, a condition known as "trilateral retinoblastoma." In the pediatric population, PPTIDs typically affect adolescents. They are characterized by small in-frame insertions in the KBTBD4 gene which is involved in ubiquitination.
Topics: Adolescent; Humans; Child; Child, Preschool; Pinealoma; Brain Neoplasms; Pineal Gland; Pathology, Molecular; Retinoblastoma; MicroRNAs; RNA-Binding Proteins; Retinal Neoplasms; Ribonuclease III; DEAD-box RNA Helicases; Forkhead Transcription Factors
PubMed: 35972537
DOI: 10.1007/s00381-022-05637-x -
Acta Neurochirurgica Dec 2020The purpose of this study was to evaluate whether endoscopic third ventriculostomy (ETV) and endoscopic cyst fenestration are effective minimally invasive alternatives...
OBJECT
The purpose of this study was to evaluate whether endoscopic third ventriculostomy (ETV) and endoscopic cyst fenestration are effective minimally invasive alternatives to a craniotomy with cyst resection for the treatment of symptomatic pineal cyst-associated aqueductal stenosis.
METHODS
Sixteen patients with symptomatic pineal cysts were operatively managed endoscopically and these cases were retrospectively reviewed. There were 12 females and 4 males. The median age at the time of surgery was 31 years (range 3 to 62 years).
RESULTS
All patients presented with symptoms and imaging consistent with elevated intracranial pressure. The median maximum cyst diameter was 15 mm (range 10 mm to 27 mm). In all cases, there was mass effect on the tectum that resulted in effacement of the cerebral aqueduct and ventriculomegaly was present in 38% of cases. ETV was performed in 15 patients. Cyst fenestration was performed in 2 patients, one of which also had an ETV. Resolution of symptoms was achieved in 81% of patients with a median follow-up of 13 months.
CONCLUSION
This study showed that ETV is effective for symptomatic pineal cyst-associated aqueductal stenosis. Patients can be symptomatic without overt ventriculomegaly and normal ventricular volume does not preclude safe endoscopic management. Endoscopic cyst fenestration is recommended if a Perinaud syndrome is present or if ETV is not feasible.
Topics: Adolescent; Adult; Brain Neoplasms; Central Nervous System Cysts; Cerebral Aqueduct; Child, Preschool; Female; Humans; Hydrocephalus; Intracranial Hypertension; Male; Middle Aged; Pineal Gland; Retrospective Studies; Third Ventricle; Treatment Outcome; Ventriculostomy; Young Adult
PubMed: 32562121
DOI: 10.1007/s00701-020-04419-1 -
JPMA. the Journal of the Pakistan... Nov 2022To provide information about brain tumour epidemiology in Pakistan and potential associated risk factors due to family, medical and social characteristics.
OBJECTIVES
To provide information about brain tumour epidemiology in Pakistan and potential associated risk factors due to family, medical and social characteristics.
METHODS
A retrospective cross-sectional nationwide study was designed by the Pakistan Society of Neuro-oncology, to include patients diagnosed with brain tumours in Pakistan retrospectively, from January 1, 2019- December 31, 2019. The study intended to involve data from all age groups for all brain tumour cases, irrespective of histopathology which would determine the national prevalence and incidence of these tumours.
RESULTS
A total of 2750 brain tumour cases were recorded, of which 1897 (69%) were diagnosed in the public sector. MRIs were a more common radiological study compared to CT scans. Gliomas were the most common tumours 778 (28.29%), while pineal tumours were the least common 19 (0.69%). The median age at diagnosis for males was 36 (24-49), while the median age at diagnosis for females was 37 (24-48). Hypertension was the most common co-morbidity in patients diagnosed with a brain tumour, 524 (51.89%), and smoking was the most frequent social behaviour, 355 (62.02%). Findings indicate a low metastasis frequency and few females seeking care.
CONCLUSIONS
The PBTES and the PBTC have presented an opportunity and platform for hospitals and health professionals to work together to strengthen cancer care health systems, ensure implementation of treatment guidelines and conduct regular cancer registration.
Topics: Male; Female; Humans; Retrospective Studies; Pakistan; Cross-Sectional Studies; Brain Neoplasms; Glioma
PubMed: 36591621
DOI: 10.47391/JPMA.11-S4-AKUB01 -
Frontiers in Oncology 2023Pediatric diencephalic tumors represent a histopathologically and molecularly diverse group of neoplasms arising in the central part of the brain and involving eloquent... (Review)
Review
Pediatric diencephalic tumors represent a histopathologically and molecularly diverse group of neoplasms arising in the central part of the brain and involving eloquent structures, including the hypothalamic-pituitary axis (HPA), optic pathway, thalamus, and pineal gland. Presenting symptoms can include significant neurological, endocrine, or visual manifestations which may be exacerbated by injudicious intervention. Upfront multidisciplinary assessment and coordinated management is crucial from the outset to ensure best short- and long-term functional outcomes. In this review we discuss the clinical and pathological features of the neoplastic entities arising in this location, and their management. We emphasize a clear move towards 'function preserving' diagnostic and therapeutic approaches with novel toxicity-sparing strategies, including targeted therapies.
PubMed: 37886179
DOI: 10.3389/fonc.2023.1178553 -
World Neurosurgery Sep 2019Surgical indications for patients with pineal cysts are controversial. There are absolute indications such as hydrocephalus or tectal compression; otherwise, it is...
BACKGROUND
Surgical indications for patients with pineal cysts are controversial. There are absolute indications such as hydrocephalus or tectal compression; otherwise, it is difficult to decide whether surgery would be beneficial when symptoms are not distinct.
OBJECTIVE
We tried to clarify the indications and clinical course of patients after resection of pineal cysts without ventriculomegaly.
METHODS
We reviewed our database for all patients operated on for pineal cyst without ventriculomegaly from 2003 to 2018. We studied the presenting symptoms, cyst size, surgical approach, extent of resection, and clinical and radiologic follow-up. Follow-up ranged from 3 months to 14 years (mean 3.74 years).
RESULTS
Forty-three patients underwent surgery for pineal cyst in absence of ventriculomegaly; 36 female patients, 7 male patients, mean age 25.63 years (±10.62 years, range 4-52 years). Presenting symptoms included headache (41/43), nausea and vomiting (31/43), dizziness (19/43), visual disturbances (10/43), and sleep disturbances (8/43). Mean cyst size was 15.7 mm (±4.9 mm, range 9-27 mm). In total, 41 of 43 patients reported a good outcome, represented by a Chicago Chiari Outcome Scale score of 11 or greater and only 2 of 43 patients reported a bad outcome, defined by Chicago Chiari Outcome Scale score of 10 or less.
CONCLUSIONS
We suggest that pineal cysts without ventriculomegaly are an indication for surgery when patients present with headache and/or visual disturbances and other causes have been excluded. Resolution of symptoms and quality of life in our cohort may denote a good indication for resection. However, we must admit that there is still no evidence to recommend this technique as a treatment of headache in these patients.
Topics: Adolescent; Adult; Central Nervous System Cysts; Child; Child, Preschool; Dizziness; Female; Headache; Humans; Magnetic Resonance Imaging; Male; Microsurgery; Middle Aged; Neurosurgical Procedures; Pineal Gland; Postoperative Period; Treatment Outcome; Young Adult
PubMed: 31154104
DOI: 10.1016/j.wneu.2019.05.200 -
Molecular Genetics & Genomic Medicine Jun 2021Pineal cyst is a benign lesion commonly occurring in people of any age. Until now, the underlying molecular alterations have not been explored.
BACKGROUND
Pineal cyst is a benign lesion commonly occurring in people of any age. Until now, the underlying molecular alterations have not been explored.
METHODS
We performed whole exome sequencing of 93 germline samples and 21 pineal cyst tissue samples to illustrate its genetic architecture and somatic mutations. The dominant and recessive inheritance modes were considered, and a probability was calculated to evaluate the significance of variant overrepresentation.
RESULTS
By analyzing pineal cyst as a Mendelian disease with a dominant inheritance pattern, we identified 42,325 rare germline variants, and NM_001004711.1:c.476A>G was highly enriched (FDR<0.2). By analyzing it as a recessive disorder, we identified 753 homozygous rare variants detected in at least one pineal cyst sample each. One STIM2 rare variant, NM_001169117.1:c.1652C>T, was overrepresented (FDR<0.05). Analyzing at a gene-based level, we identified a list of the most commonlymutated germline genes, including POP4, GNGT2 and TMEM254. A somatic mutation analysis of 21 samples identified 16 variants in 15 genes, which mainly participated in the biological processes of gene expression and epigenetic regulation, immune response modulation, and transferase activity.
CONCLUSION
These molecular profiles are novel for this condition and provide data for investigators interested in pineal cysts.
Topics: Adolescent; Adult; Cysts; Female; GTP-Binding Protein gamma Subunits; Germ-Line Mutation; Heterozygote; Homozygote; Humans; Male; Middle Aged; Phenotype; Pineal Gland; Ribonucleases; Ribonucleoproteins; Stromal Interaction Molecule 2; Exome Sequencing
PubMed: 33943042
DOI: 10.1002/mgg3.1691