bluuebunny/crossref_metadata_2025_split huggingface dataset:
Neurofibromatosis Type 1 Related Hydrocephalus
Authors: Roth Jonathan , Constantini Shlomi 
Published: December 2021

Abstract
The prevalence of hydrocephalus among patients with neurofibromatosis type I (NF1) is estimated to be between 1 and 13%. Aqueductal webs, chiasmatic-hypothalamic tumors, and thalamic mass effect related to NF changes are the common causes of NF1-related hydrocephalus. Brain tumors and moyamoya syndrome may mimic the clinical presentation of hydrocephalus in children with NF1, and should be ruled out while evaluating children with headaches. Treatment of NF1-related hydrocephalus should be personally tailored, including shunts, endoscopic procedures such as septostomy and third ventriculostomy, and tumor resection or debulking. Despite these personalized treatments, many of the primary treatments (including shunts and endoscopic procedures) fail, and patients should be screened and followed accordingly. In the current manuscript, we review the causes of NF1-related hydrocephalus, as well as treatment options.
Post Traumatic Hydrocephalus
Authors: Rufus Phelix , Moorthy Ranjith K , Joseph Mathew , Rajshekhar Vedantam 
Published: December 2021

Abstract

Background:
Post-traumatic hydrocephalus (PTH) is a sequel of traumatic brain injury (TBI) that is seen more often in patients undergoing decompressive craniectomy (DC). It is associated with prolonged hospital stay and unfavorable outcomes.

Objective:
To study the incidence and risk factors for development of PTH in patients undergoing DC in our institution and to review the literature on PTH with respect to incidence, risk factors, pathophysiology, and outcomes of management.

Methods:
Data from 95 patients (among 220 patients who underwent DC for TBI and fulfilled the inclusion criteria) over a 5-year period at Christian Medical College, Vellore were collected and analyzed to study the incidence and possible risk factors for development of PTH. A review of the literature on PTH was performed by searching PUBMED resources.

Results:
Thirty (31.6%) out of 95 patients developed post-traumatic ventriculomegaly, of whom seven (7.3%) developed symptomatic PTH, necessitating placement of ventriculoperitoneal shunt (VPS). No risk factor for development of PTH could be identified. The reported incidence of PTH in the literature is from 0.07% to 29%, with patients undergoing DC having a higher incidence. Younger age, subarachnoid hemorrhage, severity of TBI, presence of subdural hygroma, and delayed cranioplasty after DC are the main risk factors reported in the literature.

Conclusions:
PTH occurs in a significant proportion of patients with TBI and can lead to unfavorable outcomes. PTH has to be distinguished from asymptomatic ventriculomegaly as early as possible so that a CSF diversion procedure can be planned early during development of PTH.
Indian Society of Pediatric Neurosurgery Consensus Guidelines on Preventing and Managing Shunt Infection
Authors: Udayakumaran Suhas , Pillai Shibu , Dwarakanath Srinivas , Bhattacharjee Suchanda , Mehrotra Naveen , Raju Subodh , Gupta Deepak , Panigrahi Manas , Venkataramana Neelam K , Rajshekhar Vedantam , Sankhla Suresh 
Published: December 2021

Abstract

Background:
Shunt infection is the most significant morbidity associated with shunt surgery. Based on the existing literature for the prevention and management of shunt infection, region and resource-specific recommendations are needed.

Methods:
In February 2020, a Guidelines Development Group (GDG) was created by the Indian Society of Paediatric Neurosurgery (IndSPN) to formulate guidelines on shunt infections, which would be relevant to our country and LMIC in general. An initial email survey identified existing practices among the membership of the IndSPN, and eight broad issues pertaining to shunt infection were identified. Next, members of the GDG performed a systematic review of the literature on the prevention and management of shunt infection. Then, through a series of virtual meetings of the GDG over 1 year, evidence from the literature was presented to all the members and consensus was built on different aspects of shunt infection. Finally, the guidelines document was drafted and circulated among the GDG for final approval. Grading of Recommendations Assessment, Development and Evaluation (GRADE) system was used to grade the evidence and strength of recommendation.

Results:
The guidelines are divided into eight sections. Level I and Level II evidence was available for only five recommendations and led to a moderate level of recommendations. Most of the available evidence was at Level III and below, and hence the level of recommendation was low or very low. A consensus method was used to provide recommendations for several issues.

Conclusions:
Although most of the recommendations for the prevention and management of shunt infections are based on a low level of evidence, we believe that this document will provide a useful reference to neurosurgeons not only in India but also in other low and middle income countries. These guidelines need to be updated as and when new evidence emerges.
Endoscopic Third Ventriculostomy And Choroid Plexus Coagulation in Infants
Authors: Baticulon Ronnie E , Dewan Michael C 
Published: December 2021

Abstract

Background:
The global burden of pediatric hydrocephalus is high, causing significant morbidity and mortality among children especially in low- and middle-income countries. It is commonly treated with ventriculoperitoneal shunting, but in recent years, the combined use of endoscopic third ventriculostomy (ETV) and choroid plexus coagulation (CPC) has enabled patients to live without a shunt.

Objective:
We aim to give an overview of ETV+CPC for the treatment of hydrocephalus in infants, focusing on patient selection, perioperative care, and long-term follow-up.

Methods and Material:
We summarize observational studies and randomized trials on the efficacy and safety ETV+CPC, mainly from Uganda and North America. The equipment needs and operative steps of ETV+CPC are enumerated. At the end of the article, three illustrative cases of infants who underwent ETV+CPC with differing outcomes are presented.

Results:
The likelihood of success following ETV+CPC is the highest among infants older than 1 month, those with noninfectious hydrocephalus (e.g., aqueductal stenosis and myelomeningocele), and those previously without a shunt. Poor outcomes are seen in patients with posthemorrhagic hydrocephalus or evidence of cisternal scarring. Failure of ETV+CPC most commonly occurs within 3–6 months of surgery.

Conclusions:
ETV+CPC is an effective and safe alternative to ventriculoperitoneal shunting in appropriately selected infants with hydrocephalus. Long-term studies on functional and neurocognitive outcomes following ETV+CPC will help guide clinicians in decision making, allowing as many children as possible to attain shunt freedom.
Chiari 1 and Hydrocephalus – A Review
Authors: Sharma Himanshu , Treiber Jeffrey M , Bauer David F 
Published: December 2021

Abstract
Chari 1 malformation, a radiologic finding of caudal cerebellar tonsillar displacement, has a clinical course that can range from benign to complications involving life-threatening hydrocephalus. While the pathophysiologic processes underlying this variation in outcome remain a matter of scientific debate, the clinical realities and decision-making conundrums that these patients pose require a coherent approach to this entity. In this review, we seek to highlight the various processes underlying the development of hydrocephalus in patients with Chiari 1 malformations. Hydrocephalus may occur as a cause, consequence, or in parallel with the development of Chiari 1 malformation, and understanding the etiology of such hydrocephalus is critical to the treatment of Chiari 1 malformations with associated hydrocephalus. We further discuss the literature pertaining to the management of these patients and unify the current scientific thinking on Chiari 1 malformations with the extant data on operative management of Chiari 1 to develop a structured and pragmatic approach to the diagnosis and management of patients with Chiari 1-associated hydrocephalus.
Hydrocephalus in Children
Authors: Raybaud Charles , Krishnan Pradeep 
Published: December 2021

Abstract
Concepts about the production, absorption, dynamics, and physiological roles of cerebrospinal fluid (CSF) have dramatically changed over the recent decades. This article will review these new concepts and detail how they must be used for a better assessment and a better understanding of the various aspects of hydrocephalus by using neuroradiological tools.
Neuropsychiatric Symptoms and Caregiver's Burden in Parkinson's Disease Patients in a Tertiary Care Teaching Hospital in South India
Authors: Jose Anmi , Bhargavan Ajith , Appireddy Ramana , Raghunath P S , Rajan Reeja , Iype Thomas 
Published: December 2021

Abstract

Background:
In patients with Parkinson's disease (PD), the occurrence of motor and non-motor symptoms increases with disease progression. The range of neuropsychiatric symptoms (NPS) vary among individuals and can be burdensome for caregivers. Only a few studies have identified the contributing factors of NPS and caregiver burden in India.

Objectives:
We aimed to study the clinical profile, disability, and predictive factors of NPS in PD patients and associated caregiver's burden.

Methods and Material:
This was a cross-sectional observational study carried out in PD patients and their respective caregivers attending a movement disorder clinic in a tertiary care teaching hospital in Kerala. A total of 104 patients diagnosed with idiopathic PD receiving levodopa therapy and who had a primary caregiver were enrolled in the study. Structured questionnaires were administered to both patients and caregivers to collect data. Data analysis was done using an independent t-test, linear, and multiple regression analysis.

Results:
Among 104 patients recruited for the study, 61.5% of patients had shown at least one NPS and 40.44% showed multiple NPS. Results from the study showed that depression is the primary NPS occurring in IPD patients (55.8%) followed by irritability, anxiety, and apathy. On linear regression models, the prime determinant of NPS was the Everyday Abilities Scale for India (EASI). For caregiver burden, the main determinants were the presence of NPS, duration of caregiving, EASI, and RBDSQ score.

Conclusions:
NPS in PD are highly associated with and are determinants of caregiver burden. Detailed assessment and specific interventions aimed at NPS could alleviate caregiver burden.
Is the Next Generation Sequencing the Essential Tool for the Early Diagnostic Approach in Congenital Muscular Dystrophy? New Mutation in the Gen LMNA Associated with Serious Phenotype
Authors: Ávila Guillermo Martín , González Ana Pinel , Abad Araceli , Fournier Belén Gil , León Soraya Ramiro , Corral Jaime Antonio Medranda , Fernández Carlos Piquero 
Published: December 2021

Abstract

Background:
Laminopathies are a group of diseases caused by mutations in the LMNA gene. Congenital dystrophy of the LMN is a rare disease, with less than 100 cases described in the literature.

Objectives and Materials and Methods:
We present the clinical case of a patient with congenital muscular dystrophy associated with an undescribed mutation in the LMNA gene.

Results:
The patient presented progressive motor delay from 10 months with a physical examination consisting of global hypotonia, bilateral winged scapula, areflexia, hip and knee flexion posture, and positive Gowers. The patient developed progressive weakness with neck tone loss, functional impairment, and loss of gait at 5 years.

Conclusions:
To date, more than 20 mutations associated with congenital LMNA muscular dystrophy have been identified, most due to a single amino acid change (aa), few due to the gain or loss of several aa as in our patient.
Mucopolysacharidosis Type I Presenting as Bipolar Affective Disorder
Authors: Saraf Udit U , Jose Jithu , Krishnan Syam , Sreedharan Sapna Erat 
Published: December 2021

Abstract
Mucopolysacharidosis type I is a multisystem disease and often presents with neurobehavioral problems, corneal clouding, cardiac valve involvement, hepatomegaly, coarse facies, and skeletal abnormalities. It has three subtypes – with Hurler subtype (MPS-1H) being the most severe phenotype with early neurological involvement, rapid progression and mortality, while the other two subtypes – Hurler-Scheie (MPS-1H/S) and Scheie (MPS-1S) are of intermediate and milder severity, respectively. Even though neuropsychiatric symptoms have often been reported in the pediatric age group, MPS type I presenting as a major psychiatric illness in adulthood has rarely been reported in literature. Here, we report a female presenting as bipolar affective disorder in the fourth decade of life, where neuroimaging and systemic involvement gave a clue to the diagnosis.
MiR-191-5p Disturbed the Angiogenesis in a Mice Model of Cerebral Infarction by Targeting Inhibition of BDNF
Authors: Wu Ying , Yang* Sijin , Zheng Zhi , Pan Hong , Jiang Yundong , Bai Xue , Liu Tianzhu , Deng Shiyu , Li Yaqin 
Published: December 2021

Abstract

Background:
miRNAs are crucial regulators of angiogenesis, but there have been no detailed studies on the role of miR-191-5p in cerebral infarct angiogenesis. Here, we investigated the role of miR-191-5p in regulating cerebral infarction angiogenesis.

Material and Methods:
Mice were injected intracerebroventricularly with antagomir negative control (NC-antagomir), miR-191-5p antagomir, or pcDNA-BDNF 2 h before middle cerebral artery occlusion (MCAO), followed by neurobehavioral score and foot-fault test. The cerebral infarct volume was performed by TTC staining. The microvessel density was detected by FITC-dextran. RT-qPCR was used to detect the levels of miR-191-5p and its target gene BDNF. Western blotting was applied to detect the protein levels of BDNF. The luciferase reporter assay verified that miR-191-5p targeted BDNF.

Results:
We found an increased level of miR-191-5p in the brain tissue of mice to MCAO. Down-regulation of miR-191-5p reduced the infarct volume and ameliorated neurological deficits in MCAO mice. Further investigation showed that miR-191-5p directly targeted BDNF and that the protective effect of miR-191-5p inhibition in angiogenesis was achieved by regulating BDNF.

Conclusions:
Our results indicated that miR-191-5p disturbed the angiogenesis in the mouse models of cerebral infarction by inhibiting BDNF.
MPV17 Gene Variant Mutation Presenting as Leucoencephalopathy with Peripheral Neuropathy
Authors: Mundlamuri Ravindranadh Chowdary , Divate Pradeep , Satishchandra Parthasarthy 
Published: December 2021

Abstract
Mitochondrial DNA depletion syndromes (MDS) are rare mitochondrial disorders with evolving broad genotype and phenotype. This is a first case report from India about MPV 17, a mitochondrial inner membrane protein gene variant mutation, presenting with neuropathy, leucoencephalopathy and subclinical hepatic dysfunction with detailed clinical and imaging description.
Health-related Quality of Life Assessment in Patients with Malignant Gliomas
Authors: Taskiran Emine , Kemerdere Rahsan , Akgun Mehmet Y , Cetintas Semih C , Alizada Orkhan , Kacira Tibet , Tanriverdi Taner 
Published: December 2021

Abstract

Background:
High-grade gliomas have limited time of survival despite aggressive treatment. Patients experience a decline in their physical and mental capacities, affecting their quality of life (QoL), and require proper therapeutic strategies.

Objective:
To assess the QoL of malignant glioma patients before and after the treatment in a longitudinal study of six months.

Methods and Material:
Forty-nine patients who were pathologically diagnosed with glioblastoma and anaplastic glioma according to WHO 2016 were included in this prospective study. The assessment of quality of life was done using the European Organization for Research and Treatment of Cancer (EORTC) quality of life (QoL) questionnaire core-30 prior to surgery, 1 and 5 months after the operation.

Results:
The decline in Karnofsky scores of the patients was statistically significant. Among the symptom scales, fatigue was more prominent after surgery while pain was noticeable during chemotherapy which was correlated with increased age. The mean overall QoL scores showed a clinically significant decline during the postoperative period. The functional scores demonstrated a significant decline in between all periods. Sex was significantly correlated with preoperative emotional and physical functioning. The patients with right-sided lesions had higher mean scores for social and cognitive functioning.

Conclusions:
Low KPS, older age, and female gender may affect cancer symptoms and physical and social activities in malignant glioma patients. Cognitive functions as well as social and occupational roles gradually decline during the first six months of treatments. Overall QoL of high-grade glioma patients deteriorates especially after radiotherapy and during the first months of chemotherapy.
An Unusual Presentation of Progressive Supranuclear Palsy
Authors: Dec-Ćwiek Malgorzata , Boczarska-Jedynak Magdalena , Pera Joanna 
Published: December 2021

Abstract
Progressive supranuclear palsy (PSP) is a neurodegenerative disorder with varied manifestations. Progressive gait freezing (PGF) is considered to be a rare and uncommon presentation of PSP. Here we present 2 patients with freezing of gait as the initial manifestation of PSP-PGF. One patient fulfilled the criteria of PSP-PGF, while the second did not. Nevertheless, according to the movement disorders society-PSP criteria, he met the threshold for possible PSP with progressive gait freezing. We emphasize a broad PSP-PGF spectrum of symptoms and sensitize to the fact that freezing of backward gait could indeed represent an unusual manifestation of atypical parkinsonism.
Drug-resistant 'Non-Lesional' Visual Sensitive Epilepsies of Childhood – Electroclinical Phenotype–Genotype Associations
Authors: Menon Ramshekhar N , Nambiar Poornima N , Keni RR , Baishya Jitupam , Radhakrishnan Ashalatha , Cherian Ajith , Nampoothiri Sheela , Madhavilatha GK , Kotecha Udaya H , Thomas Sanjeev V 
Published: December 2021

Abstract

Background:
Sporadic nonlesional intractable visual-sensitive epilepsies of childhood represent a challenging subset of epilepsies in terms of management and prognostication given a propensity to evolve as epileptic encephalopathy.

Objective:
To study the genetic heterogeneity of drug-resistant visual sensitive epilepsy of childhood.

Methods:
A retrospective chart review was conducted on patients in the pediatric age group between 2016 and 2018, with drug-resistant epilepsy (DRE) and video electro encephalography (VEEG) documented reflex photosensitivity, eye-condition sensitivity. Those patients who underwent genetic testing with targeted next-generation sequencing using an epilepsy gene panel were selected.

Results:
During the study period, out of 96 patients who underwent genetic testing, 4 patients (4.17%) with sporadic DRE presented with clinical phenotypes ranging from myoclonic-atonic epilepsy, generalized epilepsy with eyelid myoclonia as well as febrile and unprovoked seizures, along with visual sensitivity. Video EEG documented abnormalities ranged from occipital, posterior-cortex and generalized discharges with “eyes-closed state” triggered, self-induced “smart-phone” triggered, photosensitive focal-onset and generalized myoclonic seizures. Accompanying developmental impairment was noted. These patients who were investigated with clinical exome sequencing were detected to have mutations in not only SCN1A genes (pathogenic exonic and intronic variants) but also CHD2 (pathogenic) and CACNA1H genes (a familial febrile-seizure susceptibility variant of unknown significance).

Conclusions:
The series highlights the complex genetics of drug-resistant visual-sensitive epilepsy of childhood. Such genotype–phenotype associations throw light on the role of ion-channel and non-ion channel genes on reflex epileptogenesis in this group of patients.
Vocal cord biopsy under local anesthesia, with flexible bronchoscope as an outpatient procedure, by “inside-out” technique
Authors: Ravi Ajay , Deshpande Anurag , Ramasubramaniam K , Aggarwal Manish , Goyal Rajiv 
Published: December 2021

Background:
Pulmonologists commonly need to take biopsies of laryngeal lesions, either found incidentally while doing bronchoscopy for other indications or while investigating patients for hoarseness of voice and cough. Biopsy of laryngeal lesions has been conventionally done under general anesthesia to provide adequate samples and minimize risks and patient discomfort. Of late, these biopsies have been done as outpatient procedures, by flexible endoscopes, under local anesthesia. However, vocal cord biopsies are often challenging due to poor patient compliance. We have tested an innovative method, which we have called the “inside-out” method, to circumvent this problem.

Objectives:
We aimed to analyze the feasibility, yield, and the safety of the “inside-out” technique for taking vocal cord biopsies as an outpatient procedure in awake patients.

Material and Methods:
This was a prospective observational study. Data of 38 patients with vocal cord lesions in whom the above technique was employed were analyzed.

Results:
The procedure had a diagnostic yield of 78.9% with a sensitivity of 96.7% and a specificity of 100% for detecting malignancy or dysplasia. There were no major complications.

Conclusions:
The “inside-out” technique was found to be feasible and safe and with a high yield.
Traffic Congestion and Efficient Ways to Deal with It in Tbilisi, Georgia
Authors: Kacharava Nino 
Published: December 2021

Traffic Congestion has become a new version of plague for urbanized areas. Massive breakthroughs in technology, increasing in production of motorized cars, global reduction in prices for automobiles and the rapid population growth in Tbilisi, Georgia has led to the urgence of complete rearrangement of transportation system in the city.
As a post-Soviet Union country, Georgia has had rudiments like “Marshrutkas” (privately owned minibuses) as a primary mode of transportation. Serious research and actions started in 2019 when sustainable urban mobility plan was introduced in Tbilisi; which favors public transport and pedestrians. In the course of this project one of the main avenues was converted into complete street model and hourly parking was introduced in the city centers. However, the problem regarding traffic jams still stands. This paper contributes to analyzing current situation in Tbilisi and suggesting suitable solutions. It will cover how reversible lanes, road pricing, signalized Intersections, reserved bus lanes and parking can be adapted to Tbilisi in order to reduce traffic jams.