ABCG2 Expression as a Potential Survival Predictor in Human Gliomas.

Gliomas are notably challenging to treat due to their invasive nature and resistance to conventional therapies. The ABCG2 protein has attracted attention for its role in multidrug resistance, complicating treatment effectiveness. This study scrutinized the relationship between ABCG2 expression and glioma grade and the role of ABCG2 in the process of glioma progression, aiming to evaluate ABCG2 expression as a predictive factor of tumor progression and patient survival. Conducted at Dubrava University Hospital, Zagreb, Croatia, the study analyzed 152 glioma specimens from 2013 to 2022, assessing ABCG2 expression alongside standard clinical markers. A significant association was found between patients' survival and the ABCG2 profile (p = 0.003, r = 0.24), separately for patients who underwent chemotherapy (p = 0.0004, r = 0.32) and radiotherapy (p = 0.003, r = 0.29). Furthermore, the ABCG2 profile was significantly associated with disease progression (p = 0.007, r = 0.23), tumor grade (p = 0.0002, r = 0.31), and Ki67 expression (p = 0.0004, r = 0.31). ABCG2-positive tumor cells only showed association with Ki67 expression (p = 0.002, r = 0.28). The ABCG2 profile was found to affect the overall patient survival (p = 0.02) and represent a moderate indicator of tumor progression (p = 0.01), unlike the percentage of ABCG2-positive tumor cells. ABCG2 may serve as a marker of angiogenesis and vascular abnormalities within tumors, predicting glioma progression and treatment response. Targeting ABCG2 could enhance chemoradiotherapy efficacy and improve patient outcomes, which highlights its value in assessing tumor aggressiveness and designing treatment strategies.

Transient compartmentalization and accelerated volume growth coincide with the expected development of cortical afferents in the human neostriatum.

The neostriatum plays a central role in cortico-subcortical circuitry underlying goal-directed behavior. The adult mammalian neostriatum shows chemical and cytoarchitectonic compartmentalization in line with the connectivity. However, it is poorly understood how and when fetal compartmentalization (AChE-rich islands, nonreactive matrix) switches to adult (AChE-poor striosomes, reactive matrix) and how this relates to the ingrowth of corticostriatal afferents. Here, we analyze neostriatal compartments on postmortem human brains from 9 postconceptional week (PCW) to 18 postnatal months (PM), using Nissl staining, histochemical techniques (AChE, PAS-Alcian), immunohistochemistry, stereology, and comparing data with volume-growth of in vivo and in vitro MRI. We find that compartmentalization (C) follows a two-compartment (2-C) pattern around 10PCW and is transformed into a midgestational labyrinth-like 3-C pattern (patches, AChE-nonreactive perimeters, matrix), peaking between 22 and 28PCW during accelerated volume-growth. Finally, compartmentalization resolves perinatally, by the decrease in transient "AChE-clumping," disappearance of AChE-nonreactive, ECM-rich perimeters, and an increase in matrix reactivity. The initial "mature" pattern appears around 9 PM. Therefore, transient, a 3-C pattern and accelerated neostriatal growth coincide with the expected timing of the nonhomogeneous distribution of corticostriatal afferents. The decrease in growth-related AChE activity and transfiguration of corticostriatal terminals are putative mechanisms underlying fetal compartments reorganization. Our findings serve as normative for studying neurodevelopmental disorders.

Nuclear Epidermal Growth Factor Receptor Overexpression as a Survival Predictor in Oral Squamous Cell Carcinoma.

The aim of this study was to determine, by immunohistochemical methods, the expression of nEGFR and markers of cell proliferation (Ki-67), cell cycle (mEGFR, p53, cyclin D1), and tumor stem cells (ABCG2) in 59 pathohistological samples of healthy oral mucosa, 50 oral premalignant changes (leukoplakia and erythroplakia), and 52 oral squamous cell carcinomas (OSCC). An increase in the expression of mEGFR and nEGFR was found with the development of the disease (p < 0.0001). In the group of patients with leukoplakia and erythroplakia, we found a positive correlation between nEGFR and Ki67, p53, cyclin D1, and mEGFR, whereas in the group of patients with OSCC, we found a positive correlation between nEGFR and Ki67, mEGFR (p < 0.05). Tumors without perineural (PNI) invasion had a higher expression of p53 protein than tumors with PNI (p = 0.02). Patients with OSCC and overexpression of nEGFR had shorter overall survival (p = 0.004). The results of this study suggest a potentially important independent role of nEGFR in oral carcinogenesis.

TRANSVENOUS APPROACH FOR INDIRECT CAROTID-CAVERNOUS FISTULA USING DETACHABLE COILS: A CASE REPORT AND REVIEW OF TREATMENT OPTIONS.

Carotid-cavernous fistula (CCF) is a relatively rare pathology with a low incidence compared with other vascular pathologies. They can be classified based on hemodynamics as low- or high-flow fistulas, and anatomically as direct or indirect fistulas. Anatomy of the shunt somewhat dictates the selection of endovascular treatment, meaning the venous or arterial approach and selection of embolizing materials. Although there is general agreement as to when to access CCF transvenously or transarterialy, which depends on the shunt being direct or indirect, there is no uniform agreement on which occlusion method should be used. Herein, we report a case of an 80-year-old woman treated for indirect CCF using detachable coils. We also provide a brief review of the literature, including recent advances in treatment of said entities. In conclusion, selection of both the approach and material used depends on the operator's experience and preference.

FORAMEN OVALE AND FORAMEN ROTUNDUM: CHARACTERIZATION OF POSTNATAL DEVELOPMENT.

The sphenoid bone development occurs in both prenatal and postnatal periods. Sphenoid bone openings are used as surgical landmarks and are of great importance for neurosurgeons in everyday practice. The aim of this study was to identify morphological characteristics, postnatal development and remodeling, as well as clinical aspect of the sphenoid bone openings and to investigate their relationship and difference in size. The macerated sphenoid bones analyzed in this study were scanned by micro-computed tomography. Areas and distance in-between foramen ovale and foramen rotundum were measured. In addition, different shapes of foramen ovale were described. The most common shape of foramen ovale on both sides was oval, followed by the round, almond and elongated shapes. Modest to strong positive correlations between all foramina and age for the whole sample and both subsamples were presented, except for the right foramen rotundum area in the male subsample, which did not show significant correlation with age. Our study revealed changes in postnatal development and anatomy of foramen ovale and foramen rotundum, primarily in the aspects of size and shape, and should contribute to reducing the risk of damage to neurovascular structures during surgical procedures.

METEOROLOGICAL VARIABLES ASSOCIATED WITH SUBARACHNOID HEMORRHAGE: A SINGLE CENTER STUDY.

Spontaneous subarachnoid hemorrhage (SAH) can occur unexpectedly and independently of the classic risk factors. Several different factors could affect intracranial aneurysm (IA) rupture, such as morphological and hemodynamic factors. The aim of this study was to establish the potential association of meteorological data such as temperature, atmospheric pressure, and humidity, and the onset of clinical symptoms preceding hospital admission of patients with acute SAH due to IA rupture. This retrospective study included 130 consecutive patients admitted for non-traumatic SAH with a determinable onset of SAH symptoms. The effects of meteorological parameters of atmospheric pressure, ambient temperature, and relative air humidity on the day of acute SAH onset and 24 hours prior to the onset of symptoms were recorded and analyzed in each patient. Spearman rank correlation analysis was used to assess the risks of incident SAH on the basis of daily meteorological data. Seasonal incidence of acute SAH showed the peak incidence in winter and a trough in summer, with monthly incidence peak in January and December. The circadian rhythm analysis showed the peak incidence of SAH in the forenoon, followed by the evening. Acute SAH incidence showed moderate positive association with daily atmospheric pressure (p<0.05), while no association was found with ambient temperature and relative air humidity. Our results suggested no significant association of changes in ambient temperature and relative humidity with the risk of SAH. Increases in atmospheric pressure were weakly associated with a higher SAH risk. Additional studies are needed to establish in detail both meteorological and morphological factors important to predict IA rupture and SAH.

Clinical application of the RONNA G4 system - preliminary validation of 23 robotic frameless brain biopsies.

AIMS: To report the outcomes of robot-assisted brain biopsies performed using a novel RONNA G4 system. The system was developed by a research group from the Faculty of Mechanical Engineering and Naval Architecture and a team of neurosurgeons from Dubrava University Hospital, University of Zagreb School of Medicine. METHODS: This prospective study included 49 biopsies analyzed during one year: 23 robotic frameless and 26 frame-based Leksell stereotactic biopsies. We analyzed the presenting symptoms, tumor range and location, postoperative complications, pathohistological diagnosis, diagnostic yield, as well as operation and hospitalization duration. The target point error was calculated to assess the accuracy of the RONNA system. RESULTS: No postoperative mortality, morbidity, or infections were observed. In the frameless robotic biopsy group, only one pathohistological diagnosis was inconclusive. Therefore, the diagnostic yield was 95.6% (22/23), similar to that of the framebased Leksell stereotactic biopsy group (95.1% or 25/26). The average target point error in the frameless robotic biopsy group was 2.15±1.22 mm (range 0.39-5.85). CONCLUSION: The RONNA G4 robotic system is a safe and accurate tool for brain biopsy, although further research warrants a larger patient sample, comparison with other robotic systems, and a systematic analysis of the entry and target point errors.

The vicious interplay between disrupted sleep and malignant brain tumors: a narrative review.

Malignant brain tumors are among the most aggressive human neoplasms. One of the most common and severe symptoms that patients with these malignancies experience is sleep disruption. Disrupted sleep is known to have significant systemic pro-tumor effects, both in patients with other types of cancer and those with malignant brain lesions. We therefore provide a review of the current knowledge on disrupted sleep in malignant diseases, with an emphasis on malignant brain tumors. More specifically, we review the known ways in which disrupted sleep enables further malignant progression. In the second part of the article, we also provide a theoretical framework of the reverse process. Namely, we argue that due to the several possible pathophysiological mechanisms, patients with malignant brain tumors are especially susceptible to their sleep being disrupted and compromised. Thus, we further argue that addressing the issue of disrupted sleep in patients with malignant brain tumors can, not just improve their quality of life, but also have at least some potential of actively suppressing the devastating disease, especially when other treatment modalities have been exhausted. Future research is therefore desperately needed.

MICROSURGICAL MANAGEMENT OF A RARE INCIDENTAL INTRAVENTRICULAR MENINGIOMA: A CASE REPORT AND RELEVANT LITERATURE REVIEW.

Intraventricular meningiomas are rare and make up between 0.5% and 3% of all intracranial meningiomas, representing one of the most challenging tumors in neurosurgery due to their difficult location. Being initially asymptomatic, such tumors usually attain large size before clinical presentation and diagnostic detection. Available literature concerned with their surgical management remains scarce. Herein, we present a case of microsurgical resection of incidental intraventricular meningioma in a 32-year-old female patient who was admitted to the hospital due to the sudden loss of consciousness, retrograde amnesia, and nausea following a head trauma. Routine brain magnetic resonance imaging revealed an irregular expansive formation located in the occipital horn of the right lateral ventricle showing heterogeneous contrast enhancement. The patient underwent right-side temporal osteoplastic craniotomy with total tumor microsurgical resection followed by external ventricular drainage, and recovered fully afterwards. Histopathologic analysis of tumor tissue samples confirmed the tumor as meningioma WHO grade I. Postoperative brain computed tomography confirmed complete tumor resection. In conclusion, intraventricular meningiomas are rather rare extra-axial tumors and may present with various symptoms depending on their size and difficult location. The development of most modern neuroimaging methods offers the opportunity of their precise and accurate diagnosis, better surgical planning, and favorable outcome. Microsurgical gross resection utilizing intraoperative neuromonitoring and cutting-edge neurosurgical armamentarium remains the treatment of choice for these location-challenging and surgically demanding, predominantly benign intracranial tumors.

LATE ANEURYSM RELAPSE AFTER MICROSURGICAL TREATMENT OF MIDDLE CEREBRAL ARTERY ANEURYSM: A CASE REPORT AND LITERATURE REVIEW OF TREATMENT OPTIONS.

Recurrence of intracranial aneurysm after initial microsurgical or endovascular treatment is uncommon. Although the exact etiology remains unknown, recurrent aneurysms may be observed in surgical patients with big and multiple aneurysms, arterial hypertension, non-atherosclerotic cerebrovascular arteriopathies, as well as in those with a familial history of the disease. Such recurrence can occur over a wide period ranging from several months to years after the initial aneurysm treatment. Still, the occurrence delayed by more than 20 years is rather unusual. Herein, we present a case of a 70-year-old female patient who developed late intracranial aneurysm relapse 30 years after successful microsurgical clipping of the middle cerebral artery aneurysm. We also provide a brief review of relevant literature, discussing the etiology and pathophysiology of aneurysm reappearance, as well as different treatment options available. In conclusion, one should always consider the possibility of intracranial aneurysm recurrence regardless of the mode and time of primary surgery. In such a case, a multidisciplinary management approach using flow diverting endovascular techniques is advised in selected patients.

Diameters and bone thickness at the margin of the foramen magnum in dry skulls from pediatric population: a cross-sectional anatomical study.

PURPOSE: The purpose of the study was to estimate the size and bone thickness at the margin of the foramen magnum in a pediatric population. METHODS: Sixty occipital bone specimens from the collection of macerated skulls at the Department of Anatomy, University of Zagreb, were examined and measured using a vernier scale/caliper. For the purpose of analysis, specimens were divided into two age groups: 1-6 years and 7-18 years of age (before and after the fusion of ossification centers in the occipital bone). We measured the following: antero-posterior and transverse diameters of the foramen magnum, bone thicknesses at the basion, opisthion, two paramedial points on the anterior and posterior margins, and at the occipito-squamous junction. RESULTS: Data presented in this study show that diameters of the foramen magnum increase with age, whereas bone thickness shows variable behavior depending on the measured area. CONCLUSIONS: Increases in diameters in specimens from the younger age group and their absence in specimens from older subjects reflect the growth pattern of the basilar part of occipital bone. Variability of bone thickness at the margin of the foramen magnum and lack of its association with age of the subjects may be attributed to various factors and may potentially affect the clinical presentation of compression syndromes at the level of foramen magnum.

Volumetric analysis of cerebrospinal fluid and brain parenchyma in a patient with hydranencephaly and macrocephaly--case report.

The aim of this study was to perform for the first time the intracranial volumetric analysis of cerebrospinal fluid (CSF) and brain parenchyma in the supratentorial and infratentorial space in a 30-year-old female patient with hydranencephaly and macrocephaly. A head scan performed using a 3T magnetic resonance was followed by manual segmentation of the brain parenchyma and CSF on T2 coronal brain sections. The volume of CSF and brain parenchyma was measured separately for the supratentorial and infratentorial space. The total volume of the intracranial space was 3645.5 cm3. In the supratentorial space, the volume of CSF was 3375.2 cm3 and the volume of brain parenchyma was 80.3 cm3. In the infratentorial space, the volume of CSF was 101.3 cm3 and the volume of the brain parenchyma was 88.7 cm3. In the supratentorial space, there was severe malacia of almost all brain parenchyma with no visible remnants of the choroid plexuses. Infratentorial structures of the brainstem and cerebellum were hypoplastic but completely developed. Since our patient had no choroid plexuses in the supratentorial space and no obstruction between dural sinuses and CSF, development of hydrocephalus and macrocephaly cannot be explained by the classic hypothesis of CSF physiology with secretion, unidirectional circulation, and absorption as its basic postulates. However, the origin and turnover of the enormous amount of intracranial CSF volume, at least 10-fold larger than normal, and the mechanisms of macroencephaly development could be elucidated by the new hypothesis of CSF physiology recently published by our research team.

Brain metastases of the mucoepidermoid lung carcinoma: a case report.

Mucoepidermoid carcinoma, a salivary gland tumor, rarely occurs in bronchial mucous glands. Brain metastases are rarely seen which makes for a challenging diagnosis and treatment approach. A 40-year-old woman presented with confusion, and ataxia, accompanied by a declining Glasgow Coma Score. Brain computerized tomography revealed two hyperdense, postcontrast-enhanced infra- and supratentorial lesions with perifocal edema. First causing obstructive hydrocephalus. The initial surgery involved external ventricular drainage system placement leading to the patient's clinical improvement. After radiological diagnostics, both lesions were resected without complications. Histopathological analysis revealed solid clusters of atypical, polygonal epithelial cells exhibiting mucin production, classified as a poorly differentiated mucoepidermoid carcinoma metastasis which originated from the upper lobe's apicoposterior segment and left lung. The correct treatment approach remains elusive due to the infrequent occurrence and challenging diagnosis. While new oncological and radiosurgery options promise improved overall survival rates, radical resection remains the preferred initial option.

Decreased brain volume may be associated with the occurrence of peri-lead edema in Parkinson's disease patients with deep brain stimulation.

BACKGROUND: Peri-lead edema (PLE) is a poorly understood complication of deep brain stimulation (DBS), which has been described in patients presenting occasionally with profound and often delayed symptoms with an incidence ranging from 0.4% up to even 100%. Therefore, our study aims to investigate the association of brain and brain compartment volumes on magnetic resonance imaging (MRI) with the occurrence of PLE in Parkinson's disease (PD) patients after DBS implantation in subthalamic nuclei (STN). METHODS: This retrospective study included 125 consecutive PD patients who underwent STN DBS at the Department of Neurosurgery, Dubrava University Hospital from 2010 to 2022. Qualitative analysis was done on postoperative MRI T2-weighted sequence by two independent observers, marking PLE on midbrain, thalamus, and subcortical levels as mild, moderate, or severe. Quantitative volumetric analysis of brain and brain compartment volumes was conducted using an automated CIVET processing pipeline on preoperative MRI T1 MPRAGE sequences. In addition, observed PLE on individual hemispheres was delineated manually and measured using Analyze 14.0 software. RESULTS: In our cohort, PLE was observed in 32.17%, mostly bilaterally. Mild PLE was observed in the majority of patients, regardless of the level observed. Age, sex, diabetes, hypertension, vascular disease, and the use of anticoagulant/antiplatelet therapy showed no significant association with the occurrence of PLE. Total grey matter volume showed a significant association with the PLE occurrence (r = -0.22, p = 0.04), as well as cortex volume (r = -0.32, p = 0.0005). Cortical volumes of hemispheres, overall hemisphere volumes, as well as hemisphere/total intracranial volume ratio showed significant association with the PLE occurrence. Furthermore, the volume of the cortex and total grey volume represent moderate indicators, while hemisphere volumes, cortical volumes of hemispheres, and hemisphere/total intracranial volume ratio represent mild to moderate indicators of possible PLE occurrence. CONCLUSION: The results of our study suggest that the morphometric MRI measurements, as a useful tool, can provide relevant information about the structural status of the brain in patients with PD and represent moderate indicators of possible PLE occurrence. Identifying patients with greater brain atrophy, especially regarding grey matter before DBS implantation, will allow us to estimate the possible postoperative symptoms and intervene in a timely manner. Further studies are needed to confirm our findings and to investigate other potential predictors and risk factors of PLE occurrence.

Hemoglobin-Albumin-Lymphocyte-Platelet (HALP) Score as a Predictive Model for the Success of Reconstruction of Head and Neck Defects with Free Microvascular Flaps.

Significant advances in reconstructive head and neck surgery with free microvascular flaps have had a positive impact on esthetic outcomes and quality of life. However, complications still occur in some patients. This study investigated the influence of the Hemoglobin, Albumin, Lymphocyte, and Platelet Score (HALP score), an immunonutritive marker, on complications and flap success. The retrospective analysis included 194 patients who underwent reconstruction of head and neck defects with free microvascular flaps. The HALP score correlated strongly with overall complications, including flap necrosis, infection, fistula, and hematoma. Hemoglobin, albumin, lymphocytes, and platelets individually showed associations with specific complications. HALP score was an extremely strong predictor of complications (AUC = 0.85). HALP score may be valuable for assessing patient status and predicting complications in microvascular free-flap reconstruction to allow timely interventions and improve outcomes. Further research is needed to investigate additional predictors and improve postoperative care.

Dysfunctional connectivity as a neurophysiologic mechanism of disorders of consciousness: a systematic review.

Introduction: Disorders of consciousness (DOC) has been an object of numbers of research regarding the diagnosis, treatment and prognosis in last few decades. We believe that the DOC could be considered as a disconnection syndrome, although the exact mechanisms are not entirely understood. Moreover, different conceptual frameworks highly influence results interpretation. The aim of this systematic review is to assess the current knowledge regarding neurophysiological mechanisms of DOC and to establish possible influence on future clinical implications and usage. Methods: We have conducted a systematic review according to PRISMA guidelines through PubMed and Cochrane databases, with studies being selected for inclusion via a set inclusion and exclusion criteria. Results: Eighty-nine studies were included in this systematic review according to the selected criteria. This includes case studies, randomized controlled trials, controlled clinical trials, and observational studies with no control arms. The total number of DOC patients encompassed in the studies cited in this review is 1,533. Conclusion: Connectomics and network neuroscience offer quantitative frameworks for analysing dynamic brain connectivity. Functional MRI studies show evidence of abnormal connectivity patterns and whole-brain topological reorganization, primarily affecting sensory-related resting state networks (RSNs), confirmed by EEG studies. As previously described, DOC patients are identified by diminished global information processing, i.e., network integration and increased local information processing, i.e., network segregation. Further studies using effective connectivity measurement tools instead of functional connectivity as well as the standardization of the study process are needed.

Retrospective Longitudinal Study on Changes in Atmospheric Pressure as a Predisposing Factor for Odontogenic Abscess Formation.

In our retrospective longitudinal study based on the data from 292 patients, we wanted to investigate whether there was an association between weather conditions and the occurrence of odontogenic abscesses (OA) requiring hospitalization. In the adult group (249 patients), the incidence of severe OA was highest in winter (32.9%) during January (11.6%), with the most common localizations being the perimandibular (35.7%) and submandibular (23.3%) regions. We found that changes in mean daily atmospheric pressure five days before hospitalization showed a positive association with the occurrence of OA, especially pressure variations greater than 12 hPa. Atmospheric pressure changes two and five days before hospitalization were also found to be moderate predictors of complications during treatment. Antibiogram analysis revealed resistance of streptococci to clindamycin in 26.3%. In the pediatric group, OA were also most frequent in winter (30.2%), and the perimandibular region (37.2%) and the canine fossa (20.9%) were the most frequent abscess localizations, while an association with meteorological parameters was not demonstrated. Clinical experience teaches us that weather change influences the occurrence of severe OA requiring hospitalization, which we confirmed in this research. To our knowledge, our study is the first to provide a threshold and precise time frame for atmospheric pressure changes.

Bilateral posterior fossa chronic subdural hematoma as a cause of hydrocephalus.

Background: Infratentorial chronic subdural hematoma (cSDH) is still a rather elusive neurosurgical entity, which, due to its proximity and likely compression of the cerebellum and brainstem, can lead to devastating consequences. To establish standardized treatment, more studies and reports regarding its therapy are needed. We report a case of a simultaneous unilateral supratentorial and bilateral infratentorial cSDH, with the latter causing hydrocephalus and successfully treated with a bilateral burr-hole trepanation of occipital bone and placement of subdural drains. Case Description: A 71-year-old man with gait disturbance, Glasgow Coma Scale 12, and a radiologically verified unilateral supratentorial and bilateral cSDH of the posterior fossa causing cerebellum, brainstem, and fourth ventricle compression with obstructive hydrocephalus, underwent surgical evacuation of infratentorial hematoma with a bilateral burr-hole trepanation. The postoperative course was uneventful, with a control head computed tomography scan showing the resolution of the hematoma and hydrocephalus. The patient was discharged with no newly acquired neurological deficits. Conclusion: Due to a limited number of reports and studies involving infratentorial cSDHs causing hydrocephalus, decision-making and optimal surgical treatment remain unclear. We recommend a timely surgical evacuation of the hematoma if the patient is symptomatic while avoiding placement of external ventricular drainage.

GPi DBS treatment outcome in children with monogenic dystonia: a case series and review of the literature.

Introduction: Dystonia is the third most common pediatric movement disorder and is often difficult to treat. Deep brain stimulation (DBS) of the internal pallidum (GPi) has been demonstrated as a safe and effective treatment for genetic dystonia in adolescents and adults. The results of DBS in children are limited to individual cases or case series, although it has been proven to be an effective procedure in carefully selected pediatric cohorts. The aim of our study was to present the treatment outcome for 7- to 9-year-old pediatric patients with disabling monogenic isolated generalized DYT-THAP1 and DYT-KMT2B dystonia after bilateral GPi-DBS. Patients and results: We present three boys aged <10 years; two siblings with disabling generalized DYT-THAP1 dystonia and a boy with monogenic-complex DYT-KMT2B. Dystonia onset occurred between the ages of 3 and 6. Significantly disabled children were mostly dependent on their parents. Pharmacotherapy was inefficient and patients underwent bilateral GPi-DBS. Clinical signs of dystonia improved significantly in the first month after the implantation and continued to maintain improved motor functions, which were found to have improved further at follow-up. These patients were ambulant without support and included in everyday activities. All patients had significantly lower Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) values, indicating >25% improvement over the first 15 months. However, there was a decline in speech and upper limb function, manifesting with bradylalia, bradykinesia, and dysphonia, which decreased after treatment with trihexyphenidyl. Conclusion: Although reports of patients with monogenic dystonia, particularly DYT-THAP1, treated with DBS are still scarce, DBS should be considered as an efficient treatment approach in children with pharmacoresistent dystonia, especially with generalized monogenic dystonia and to prevent severe and disabling symptoms that reduce the quality of life, including emotional and social aspects. Patients require an individual approach and parents should be properly informed about expectations and possible outcomes, including relapses and impairments, in addition to DBS responsiveness and related improvements. Furthermore, early genetic diagnosis and the provision of appropriate treatments, including DBS, are mandatory for preventing severe neurologic impairments.

Deep brain stimulation in disorders of consciousness: 10 years of a single center experience.

Disorders of consciousness (DoC), namely unresponsive wakefulness syndrome (UWS) and minimally conscious state (MCS), represent severe conditions with significant consequences for patients and their families. Several studies have reported the regaining of consciousness in such patients using deep brain stimulation (DBS) of subcortical structures or brainstem nuclei. Our study aims to present the 10 years' experience of a single center using DBS as a therapy on a cohort of patients with DoC. Eighty Three consecutive patients were evaluated between 2011 and 2022; entry criteria consisted of neurophysiological and neurological evaluations and neuroimaging examinations. Out of 83, 36 patients were considered candidates for DBS implantation, and 32 patients were implanted: 27 patients had UWS, and five had MCS. The stimulation target was the centromedian-parafascicular complex in the left hemisphere in hypoxic brain lesion or the one better preserved in patients with traumatic brain injury. The level of consciousness was improved in seven patients. Three out of five MCS patients emerged to full awareness, with the ability to interact and communicate. Two of them can live largely independently. Four out of 27 UWS patients showed consciousness improvement with two patients emerging to full awareness, and the other two reaching MCS. In patients with DoC lasting longer than 12 months following traumatic brain injury or 6 months following anoxic-ischemic brain lesion, spontaneous recovery is rare. Thus, DBS of certain thalamic nuclei could be recommended as a treatment option for patients who meet neurological, neurophysiological and neuroimaging criteria, especially in earlier phases, before occurrence of irreversible musculoskeletal changes. Furthermore, we emphasize the importance of cooperation between centers worldwide in studies on the potentials of DBS in treating patients with DoC.