Smartphone-based thermography to determine shunt patency in patients with hydrocephalus.

BACKGROUND: When shunt dysfunction is suspected, radiation exposure due to X-rays or a CT-scan is inevitable. Less-invasive and more reliable methods are warranted. In this study, we aimed to assess the usability of smartphone-based thermography to detect shunt patency in patients with hydrocephalus. METHODS: This prospective observational pilot study evaluated the use of smartphone-based video thermography to detect flow of cerebrospinal fluid in the shunt of 51 patients from the Department of Neurosurgery at a tertiary referral institute. Patients with a shunt for hydrocephalus without the suspect of dysfunction were included in the study from December 2021 to May 2022. RESULTS: We included 51 patients with a mean age of 53.3 years. Of these patients 14 were male (27.5%) and 37 were female (72.5%). The most frequent cause of the hydrocephalus was the normal pressure hydrocephalus followed by the congenital hydrocephalus. Most patients (96%) had a ventriculoperitoneal shunt, whereas two had a ventriculo-atrial shunt. In total, 43 patient (84%) had a shunt on the right side and 8 patient (16%) had the shunt located on the left side. In 45 patients (88.2%), we observed a clear flow of cerebrospinal fluid in the cooled shunt trajectory. CONCLUSIONS: The findings of this study indicate that in patients with a shunt to treat hydrocephalus, the smartphone-based video thermography may be a safe and simple alternative to show shunt patency without the exposure to radiation.

Percutaneous transforaminal endoscopic discectomy in a nine-year-old patient with sciatica: case report, technical note and overview of the literature.

Percutaneous transforaminal endoscopic discectomy (PTED) is an alternative procedure to open microdiscectomy (OM) to treat sciatica caused by lumbar disk herniation. Even though robust evidence comparing PTED with OM is lacking, PTED is becoming increasingly popular to treat spinal disorders. In this technical report, the surgical technique and outcomes of PTED in a 9-year-old patient are described. Furthermore, an overview of the literature on full-endoscopic techniques to treat sciatica is given, showing that PTED is feasible, safe and effective to treat lumbar disk herniation in the pediatric population.

Spinal meningiomas: Treatment outcome and long-term follow-up.

BACKGROUND: Spinal intradural tumors can be classified as intradural extramedullary or intramedullary tumors. Spinal meningiomas are among the most frequent intradural, extramedullary tumors (IDEMs), representing 12 % of all meningiomas and 25-45 % of all intradural spinal tumors. OBJECTIVE: To evaluate postoperative outcome, defined by mortality, tumor recurrence and modified Rankin Scale in patients with spinal meningiomas. Furthermore, to identify factors related to these outcome measures and define possible prognosticators. METHODS: A large single center retrospective analysis of 166 consecutive spinal meningioma patients during a 29-year period (1989-2018). RESULTS: Female to male ratio was 5.15 to 1. Of all 166 resected tumors, 159 were WHO grade I and seven were WHO grade II. Histopathologically, the psammomatous type was most common (42.8 %). The thoracic region was the most frequent location (71.1 %), followed by cervical and lumbar locations. A complete resection (Simpson I-III) was achieved in 88.7 %. In 12 cases (7.2 %) recurrences of a spinal meningioma occurred after an interval of 0.70-13.78 years. Postoperative complications consisted of CSF leakage and wound healing problems. Three patients died of direct postoperative complications (1.8 %), nine patients died in follow-up due to unrelated causes. Post-operative complications were related to the overall outcome (p = 0.029). Clinical outcome showed improvement in 117 patients out of 148 (79.1 %) according to modified Rankin Scale; 24 patients remained stable and 7 patients deteriorated. Patients with pre-existing bladder/bowel problems and incomplete resections had higher chance of recurrences. Younger patients also had a higher recurrence rate. Follow-up ranged from 0 to 23 years, median of 0.77 years, most were discontinued after 2 years. CONCLUSIONS: The primary treatment of spinal meningiomas remains surgery. Complete resection of spinal meningiomas is achieved in most of the cases, however preserving and improving neurological status has priority over complete tumor resection. Morbidity and mortality is relatively low. Longer follow-up periods are recommended, since recurrences can occur after 10-15 years.

A primary extraosseous Ewing sarcoma in the cerebellopontine angle of a child: review of relevant literature and case report.

BACKGROUND AND IMPORTANCE: We report the occurrence of a primary intracranial extraosseous Ewing sarcoma/peripheral primitive neuroectodermal tumor (EES/pPNET) in the cerebellopontine angle in a child. CLINICAL PRESENTATION: A 10-year-old girl presented with symptoms and signs of an infratentorial space-occupying lesion that was confirmed by magnetic resonance imaging and followed up by subtotal surgical resection. Tumor cells displayed membranous expression of CD99, and one of the typical translocations of EES/pPNET (chromosome 22) was demonstrated by cytogenetic analysis. CONCLUSION: The literature regarding the histopathological, molecular, radiological, prognostic, and therapeutic features of intracranial EES/pPNET is reviewed, emphasizing the distinction of this entity from the central PNET. Although exceptionally rare, intracranial EES/pPNET should be considered in the differential diagnosis of lesions in the cerebellopontine angle.

Coagulation disorders after traumatic brain injury.

BACKGROUND: Over the past decade new insights in our understanding of coagulation have identified the prominent role of tissue factor. The brain is rich in tissue factor, and injury to the brain may initiate disturbances in local and systemic coagulation. We aimed to review the current knowledge on the pathophysiology, incidence, nature, prognosis and treatment of coagulation disorders following traumatic brain injury (TBI). METHODS: We performed a MEDLINE search from 1966 to April 2007 with various MESH headings, focusing on head trauma and coagulopathy. We identified 441 eligible English language studies. These were reviewed for relevance by two independent investigators. A meta-analysis was performed to calculate the frequencies of coagulopathy after TBI and to determine the association of coagulopathy and outcome, expressed as odds ratios. RESULTS: Eighty-two studies were relevant for the purpose of this review. Meta-analysis of 34 studies reporting the frequencies of coagulopathy after TBI, showed an overall prevalence of 32.7%. The presence of coagulopathy after TBI was related both to mortality (OR 9.0; 95%CI: 7.3-11.6) and unfavourable outcome (OR 36.3; 95%CI: 18.7-70.5). CONCLUSIONS: We conclude that coagulopathy following traumatic brain injury is an important independent risk factor related to prognosis. Routine determination of the coagulation status should therefore be performed in all patients with traumatic brain injury. These data may have important implications in patient management. Well-performed prospective clinical trials should be undertaken as a priority to determine the beneficial effects of early treatment of coagulopathy.

CYP2D6 polymorphism in Parkinson's disease: the Rotterdam Study.

The CYP2D6 polymorphism has been studied extensively in association with Parkinson's disease (PD), with no consistent results. Several explanations, such as differences in study design or bias in the selection of the control population, have been offered for these inconsistent results. We designed a case control study nested within a prospective population-based cohort study in which cases and controls were sampled from the same source population. To assess the significance of the CYP2D6 gene in PD, we investigated two mutant alleles, CYP2D6*3 and CYP2D6*4, associated with poor metabolism and the wild type allele in 80 patients with PD and 156 matched controls, frequency matched on age and gender. No differences between cases and controls were found for the poor metabolizer genotype. However, we found that in contrast to earlier reports, the CYP2D6*4 mutant allele frequency was lower in cases as compared to controls, albeit not statistically significant. Our result supports the hypothesis that the CYP2D6 gene is not a major gene responsible for PD.

Association between early-onset Parkinson's disease and mutations in the parkin gene.

BACKGROUND: Mutations in the parkin gene have recently been identified in patients with early-onset Parkinson's disease, but the frequency of the mutations and the associated phenotype have not been assessed in a large series of patients. METHODS: We studied 73 families in which at least one of the affected family members was affected at or before the age of 45 years and had parents who were not affected, as well as 100 patients with isolated Parkinson's disease that began at or before the age of 45 years. All subjects were screened for mutations in the parkin gene with use of a semiquantitative polymerase-chain-reaction assay that simultaneously amplified several exons. We sequenced the coding exons in a subgroup of patients. We also compared the clinical features of patients with parkin mutations and those without mutations. RESULTS: Among the families with early-onset Parkinson's disease, 36 (49 percent) had parkin mutations. The age at onset ranged from 7 to 58 years. Among the patients with isolated Parkinson's disease, mutations were detected in 10 of 13 patients (77 percent) with an age at onset of 20 years or younger, but in only 2 of 64 patients (3 percent) with an age at onset of more than 30 years. The mean (+/-SD) age at onset in the patients with parkin mutations was younger than that in those without mutations (32+/-11 vs. 42+/-11 years, P<0.001), and they were more likely to have symmetric involvement and dystonia at onset, to have hyperreflexia at onset or later, to have a good response to levodopa therapy, and to have levodopa-induced dyskinesias during treatment. Nineteen different rearrangements of exons (deletions and multiplications) and 16 different point mutations were detected. CONCLUSIONS: Mutations in the parkin gene are a major cause of early-onset autosomal recessive familial Parkinson's disease and isolated juvenile-onset Parkinson's disease (at or before the age of 20 years). Accurate diagnosis of these cases cannot be based only on the clinical manifestations of the disease.

APOE and the risk of PD with or without dementia in a population-based study.

OBJECTIVE: To study the association between APOE genotype and PD with or without dementia. METHODS: The study formed part of the Rotterdam Study, a prospective, population-based cohort study on the frequency, etiology, and prognosis of chronic diseases. The cohort examined for PD consisted of 6,969 independently living or institutionalized inhabitants from a suburb of Rotterdam, the Netherlands, aged 55 years or older. All participants were screened at baseline (1990 to 1993) and at follow-up (1993 to 1994) for symptoms of parkinsonism by study physicians; screen positives received a diagnostic workup by a neurologist. RESULTS: APOE genotyping was available for 107 PD patients (26 with and 81 without dementia) and 4,805 non-PD control subjects. The presence of at least one epsilon2 allele significantly increased the risk of PD (OR = 1.7; 95% CI, 1.0 to 2.8). When we looked separately for demented and nondemented PD patients as compared with nonparkinsonian controls, APOE did not appear to be associated with PD without dementia, but both the epsilon2 and the epsilon4 allele increased the risk of PD with dementia (OR = 5.6; 95% CI, 2.0 to 15.2 and OR = 3.6; 95% CI, 1.3 to 9.9). The risk of dementia for epsilon4 allele carriers was not significantly different for persons with or without PD. However, the epsilon2 allele strongly increased the risk of dementia in patients with PD (interaction p < 0.007). CONCLUSIONS: In the elderly the APOE-epsilon2 allele increases the risk of PD and, in particular, the risk of PD with dementia.

N-acetyltransferase-2 polymorphism in Parkinson's disease: the Rotterdam study.

The N-acetyltransferase-2 gene (NAT-2) has been associated with Parkinson's disease. The genotype associated with slow acetylation has been reported to be increased in patients with Parkinson's disease. Three mutant alleles M1, M2, and M3 of NAT-2 were investigated in 80 patients with idiopathic Parkinson's disease and 161 age matched randomly selected controls from a prospective population based cohort study. The allelic frequencies and genotypic distributions in patients were very similar to those found in controls. In controls the frequency of the wild type allele increased significantly with age suggesting that the mutant alleles are associated with an increased risk of mortality. These findings suggest that NAT-2 polymorphism is not a major genetic determinant of idiopathic Parkinson's disease, but may be a determinant of mortality in the general population.

The Ile93Met mutation in the ubiquitin carboxy-terminal-hydrolase-L1 gene is not observed in European cases with familial Parkinson's disease.

Recently an Ile93Met mutation in the ubiquitin-carboxy-terminal-hydrolase-L1 gene (UCH-L1) has been described in a German family with Parkinson's disease (PD). The authors showed that this mutation is responsible for an impaired proteolytic activity of the UCH-L1 protein and may lead to an abnormal aggregation of proteins in the brain. In order to determine the importance of this or any other mutation in the coding region of the UCH-L1 gene in PD, we performed mutation analysis on Caucasian families with at least two affected sibs. We did not detect any mutations in the UCH-L1 gene, however, we cannot exclude mutations in the regulatory or intronic regions of the UCH-L1 gene since these regions were not sequenced. We conclude that the UCH-L1 gene is not a major gene responsible for familial PD.

A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease.

Autosomal recessive juvenile parkinsonism (AR-JP, PARK2; OMIM 602544), one of the monogenic forms of Parkinson's disease (PD), was initially described in Japan. It is characterized by early onset (before age 40), marked response to levodopa treatment and levodopa-induced dyskinesias. The gene responsible for AR-JP was recently identified and designated parkin. We have analysed the 12 coding exons of the parkin gene in 35 mostly European families with early onset autosomal recessive parkinsonism. In one family, a homozygous deletion of exon 4 could be demonstrated. By direct sequencing of the exons in the index patients of the remaining 34 families, eight previously undescribed point mutations (homozygous or heterozygous) were detected in eight families that included 20 patients. The mutations segregated with the disease in the families and were not detected on 110-166 control chromosomes. Four mutations caused truncation of the parkin protein. Three were frameshifts (202-203delAG, 255delA and 321-322insGT) and one a nonsense mutation (Trp453Stop). The other four were missense mutations (Lys161Asn, Arg256Cys, Arg275Trp and Thr415Asn) that probably affect amino acids that are important for the function of the parkin protein, since they result in the same phenotype as truncating mutations or homozygous exon deletions. Mean age at onset was 38 +/- 12 years, but onset up to age 58 was observed. Mutations in the parkin gene are therefore not invariably associated with early onset parkinsonism. In many patients, the phenotype is indistinguishable from that of idiopathic PD. This study has shown that a wide variety of different mutations in the parkin gene are a common cause of autosomal recessive parkinsonism in Europe and that different types of point mutations seem to be more frequently responsible for the disease phenotype than are deletions.

Delays in the diagnosis of acoustic neuromas.

From the medical files of 164 consecutive patients who underwent surgical treatment for a unilateral acoustic neuroma between 1980 and 1992, we collected data on the delay until the diagnosis was made. A distinction was made between the patient's and general practitioner's delay (delay 1) and the delay after the specialist's first visit until the radiologic diagnosis (delay 2). The average delay was 35.7 months (SD, 62.2) for delay 1 and 15.2 months (SD, 36.3) for delay 2. Specialist's delay (otolaryngologist or neurologist) was divided into a delay of a maximum of 12 months (134 patients) and a longer delay (30 patients). In 27 of the 30 patients, no specific tests had been performed, and in the remaining three, the test results were inconclusive. Reasons for not conducting further tests included familial hearing impairment, Meniere's disease, otosclerosis, and alcoholism. In cases in which the specialist had not made the diagnosis within 1 year, it took an average of 6 months extra to make the diagnosis of an acoustic neuroma, usually with a fairly short patient delay. The specialist's delay remained constant in the period of investigation, with the possibility of magnetic resonance imaging (MRI) scanning only in the last 2 years. In view of the increasing accessibility of MRI, it is now recommended if possible to perform MRIs in all patients with symptoms suspicious for an acoustic neuroma.

Acoustic neuroma: correlation among tumor size, symptoms, and patient age.

Due to improved diagnostic techniques, acoustic neuromas more frequently are detected at an early stage. Subsequent treatment depends on such factors as expected tumor growth rate, tumor size, and patient age. The natural history of acoustic neuromas is still uncertain: This study was performed to examine possible correlations among tumor size, patient age, signs and symptoms, and duration of symptoms. The study included 164 patients with an acoustic neuroma who were treated at University Hospital Nijmegen, The Netherlands, over a period of 13 years. Comparisons were made between the findings of this study and the reports in the literature. No support was found for any of the correlations mentioned in other studies, and no relationships could be demonstrated between the parameters evaluated in this study. The authors therefore recommend that treatment policies be based only on well-established correlations.