A Machine Learning Approach to Support Treatment Identification for Chiari I Malformation

Chiari I malformation is characterized by the herniation of cerebellar tonsils below the foramen magnum. It is often accompanied by syringomyelia and neurosurgical management is still controversial. In fact, it is frequent that some symptomatic patients initially undergo bony decompression of the posterior fossa and need in a short time more invasive surgery with higher morbility (e.g., decompression of posterior fossa with dural plastic, with or without tonsillar coarctation) because of unsatisfactory results at MRI controls. This study proposes a machine learning approach (based on SVM classifier), applied to different morphometric indices estimated from sagittal MRI and some information on the patient (i.e., age and symptoms at diagnosis), to recognize patients with higher risk of syringomyelia and clinical deterioration. Our database includes 58 pediatric patients who underwent surgery treatment. A negative outcome at 1 year from the intervention was observed in 38% of them (accuracy of 62%). Our algorithm allows us to increase the accuracy to about 71%, showing it to be a valid support to neurosurgeons in refining the clinical picture

Automated Morphological Measurements of Brain Structures and Identification of Optimal Surgical Intervention for Chiari i Malformation

The herniation of cerebellum through the foramen magnum may block the normal flow of cerebrospinal fluid determining a severe disorder called Chiari I Malformation (CM-I). Different surgical options are available to help patients, but there is no standard to select the optimal treatment. This paper proposes a fully automated method to select the optimal intervention. It is based on morphological parameters of the brain, posterior fossa and cerebellum, estimated by processing sagittal magnetic resonance images (MRI). The processing algorithm is based on a non-rigid registration by a balanced multi-image generalization of demons method. Moreover, a post-processing based on active contour was used to improve the estimation of cerebellar hernia. This method allowed to delineate the boundaries of the regions of interest with a percentage of agreement with the delineation of an expert of about 85%. Different features characterizing the estimated regions were then extracted and used to develop a classifier to identify the optimal surgical treatment. Classification accuracy on a database of 50 patients was about 92%, with a predictive value of 88% (tested with a leave-one-out approach)

Cochlear Implant Outcomes and Genetic Mutations in Children with Ear and Brain Anomalies

Background. Specific clinical conditions could compromise cochlear implantation outcomes and drastically reduce the chance of an acceptable development of perceptual and linguistic capabilities. These conditions should certainly include the presence of inner ear malformations or brain abnormalities. The aims of this work were to study the diagnostic value of high resolution computed tomography (HRCT) and magnetic resonance imaging (MRI) in children with sensorineural hearing loss who were candidates for cochlear implants and to analyse the anatomic abnormalities of the ear and brain in patients who underwent cochlear implantation. We also analysed the effects of ear malformations and brain anomalies on the CI outcomes, speculating on their potential role in the management of language developmental disorders. Methods. The present study is a retrospective observational review of cochlear implant outcomes among hearing-impaired children who presented ear and/or brain anomalies at neuroimaging investigations with MRI and HRCT. Furthermore, genetic results from molecular genetic investigations (GJB2/GJB6 and, additionally, in selected cases, SLC26A4 or mitochondrial-DNA mutations) on this study group were herein described. Longitudinal and cross-sectional analysis was conducted using statistical tests. Results. Between January 1, 1996 and April 1, 2012, at the ENT-Audiology Department of the University Hospital of Ferrara, 620 cochlear implantations were performed. There were 426 implanted children at the time of the present study (who were <18 years). Among these, 143 patients (64 females and 79 males) presented ear and/or brain anomalies/lesions/malformations at neuroimaging investigations with MRI and HRCT. The age of the main study group (143 implanted children) ranged from 9 months and 16 years (average = 4.4; median = 3.0). Conclusions. Good outcomes with cochlear implants are possible in patients who present with inner ear or brain abnormalities, even if central nervous system anomalies represent a negative prognostic factor that is made worse by the concomitant presence of cochlear malformations. Common cavity and stenosis of the internal auditory canal (less than 2 mm) are negative prognostic factors even if brain lesions are absent

Chiari Syndrome: Advances in Epidemiology and Pathogenesis: A Systematic Review

Arnold Chiari Syndrome; Hydrocephalus; ScoliosisSíndrome de Arnold Chiari; Hidrocefalia; EscoliosisSíndrome d'Arnold Chiari; Hidrocefàlia; EscoliosiArnold Chiari syndrome is a rare congenital disease of unknown prevalence and whose origin is still under study. It is encompassed within the posterior cranial malformations, showing a wide spectrum of symptomatology that can range from severe headache, dizziness, and paresthesia to complete asymptomatology. It is for this reason that early diagnosis of the disease is difficult, and it is usually diagnosed in adolescence. Treatment is based on remodeling and decompression of the malformed posterior cranial fossa, although the risk of residual symptoms after surgery is high. The aim of this review is to update all the existing information on this pathology by means of an exhaustive analysis covering all the scientific literature produced in the last 5 years. In addition, it has been carried out following the PRISMA model and registered in PROSPERO with code CRD42023394490. One of the main conclusions based on the results obtained in this review is that the origin of the syndrome could have a genetic basis and that the treatment of choice is the decompression of the posterior cerebral fossa

Application of Advanced MRI to Fetal Medicine and Surgery

Robust imaging is essential for comprehensive preoperative evaluation, prognostication, and surgical planning in the field of fetal medicine and surgery. This is a challenging task given the small fetal size and increased fetal and maternal motion which affect MRI spatial resolution. This thesis explores the clinical applicability of post-acquisition processing using MRI advances such as super-resolution reconstruction (SRR) to generate optimal 3D isotropic volumes of anatomical structures by mitigating unpredictable fetal and maternal motion artefact. It paves the way for automated robust and accurate rapid segmentation of the fetal brain. This enables a hierarchical analysis of volume, followed by a local surface-based shape analysis (joint spectral matching) using mathematical markers (curvedness, shape index) that infer gyrification. This allows for more precise, quantitative measurements, and calculation of longitudinal correspondences of cortical brain development. I explore the potential of these MRI advances in three clinical settings: fetal brain development in the context of fetal surgery for spina bifida, airway assessment in fetal tracheolaryngeal obstruction, and the placental-myometrial-bladder interface in placenta accreta spectrum (PAS). For the fetal brain, MRI advances demonstrated an understanding of the impact of intervention on cortical development which may improve fetal candidate selection, neurocognitive prognostication, and parental counselling. This is of critical importance given that spina bifida fetal surgery is now a clinical reality and is routinely being performed globally. For the fetal trachea, SRR can provide improved anatomical information to better select those pregnancies where an EXIT procedure is required to enable the fetal airway to be secured in a timely manner. This would improve maternal and fetal morbidity outcomes associated with haemorrhage and hypoxic brain injury. Similarly, in PAS, SRR may assist surgical planning by providing enhanced anatomical assessment and prediction for adverse peri-operative maternal outcome such as bladder injury, catastrophic obstetric haemorrhage and maternal death

A standard of care for individuals with PIK3CA ‐related disorders: an international expert consensus statement

Growth promoting variants in PIK3CA cause a spectrum of developmental disorders, depending on the developmental timing of the mutation and tissues involved. These phenotypically heterogeneous entities have been grouped as PIK3CA-Related Overgrowth Spectrum disorders (PROS). Deep sequencing technologies have facilitated detection of low-level mosaic, often necessitating testing of tissues other than blood. Since clinical management practices vary considerably among healthcare professionals and services across different countries, a consensus on management guidelines is needed. Clinical heterogeneity within this spectrum leads to challenges in establishing management recommendations, which must be based on patient-specific considerations. Moreover, as most of these conditions are rare, affected families may lack access to the medical expertise that is needed to help address the multi-system and often complex medical issues seen with PROS. In March 2019, macrocephaly-capillary malformation (M-CM) patient organizations hosted an expert meeting in Manchester, United Kingdom, to help address these challenges with regards to M-CM syndrome. We have expanded the scope of this project to cover PROS and developed this consensus statement on the preferred approach for managing affected individuals based on our current knowledge

Presentation of the Success Rate of ETV in Distinct Indication Cases of Hydrocephalus

Endoscopic third ventriculostomy (ETV) is an endoscopic fenestration between the floor of the third ventricle and subarachnoid space. It is the procedure of choice for obstructive hydrocephalus (HC). The indication includes obstructive HC caused by aqueduct stenosis, tumors, brain infarction, cystic lesions, hematoma, postinfectious and posthemorrhagic HC, malformation of the fourth ventricle, and further uncommon indications. In this chapter, surgical techniques and the success rate of ETV in distinct indications will be presented and discussed. The overall success rate of ETV is reported at 60–90%. The outcome of the procedure depends highly on the underlying pathology and age. A very favorable outcome is reported in case of aqueduct stenosis (67–93.5%). High success rate is observed in case of cerebellar infarction (86%), tumors (56–81%), and intraventricular cysts (56–95%). In case of intraventricular hemorrhage (43–73%), infection (60–64%), anatomical aberration (21–80%), and communicating HC (65–72%), a significantly inferior success rate is reported. It is well known that ETV has a lower success rate in children (68–71%) compared to adults (70–90%). The overall high clinical success rate in short-term and long-term follow-up confirms that ETV is the gold standard for treatment of occlusive HC. It is effective, safe, and simple

Craniosynostosis in a South Africa population

Background: Craniosynostosis refers to the premature fusion of calvarial bones which lead to restricted growth potential. Compensatory growth occurs in the dimensions not restricted by fusion and causes progressive distortion in the skull shape. The majority of craniosynostosis cases occur in isolation and are so called non-syndromic craniosynostosis. In about 30 % of all cases, anomalies are noted along with the craniosynostosis, often defining a described and recognised syndrome. The aim is to delineate the phenotype observed in a South African population. Methods: In this descriptive study, hospital records for the preceding five years were retrospectively reviewed to describe the profile of patients with craniosynostosis seen at the Red Cross War Memorial Children's Hospital in Cape Town. In addition to the retrospective review, a sub cohort of patients were prospectively phenotyped. The patients were subdivided into three groups namely: non-syndromic craniosynostosis, syndromic craniosynostosis and craniosynostosis with additional features. The last group included patients who had additional malformations or clinical findings without a syndromic diagnosis. The prevalence of phenotypic findings, teratogen exposure, birth complications, congenital malformations, surgical interventions and results of genetic testing in this cohort is described. Descriptive statistical analysis was used. Results: A total of 47 children with craniosynostosis were included in this study. Twenty-five individuals of the cohort were male, and one patient has a disorder of sexual development. Eighteen patients had non-syndromic synostosis. Twelve of these had sagittal type synostosis and five had metopic type synostosis with one unspecified. Thirteen had syndromic synostosis. Eight were clinically diagnosed with Crouzon syndrome of which three were molecularly confirmed. Four patients had Apert syndrome and one had Pfeiffer syndrome, these were clinically diagnosed without molecular confirmation. Sixteen patients had craniosynostosis with some additional findings but no syndromic diagnosis. The suture involved in the majority of patients was the sagittal suture. Ten patients had an additional structural brain abnormality and 13 had signs of raised intracranial pressure. The average age at confirmation of diagnosis of craniosynostosis by CT scan was 22.5 months (SD = 31.4, range: 0.1 – 140.9). Thirty of the 47 patients had craniosynostosis surgery. The average age of surgery was 22.4 months (SD = 19; range: 5-79). The anthropometric, phenotype and developmental features indicate that this is a highly heterogenous group of disorders. Conclusion: Craniosynostosis has been widely reported worldwide, especially in individuals of European descent with only a few reports on craniosynostosis in South African or African populations. Knowledge of the phenotypic spectrum will aid in understanding and documenting this group of disorders in our local population. This study also highlights that this is a complex condition best managed by a multidisciplinary team that should include a medical geneticist. The recognition of specific craniosynostosis syndromes together with appropriate molecular testing can be cost effective even in a limited resource setting and aid in accurate prognosis and recurrence risk information for families

Management of myelomeningocele

Objective: T To find out best possible protocol to provide productive life to children born with myelomeningocele.Study design: Descriptive study.Place & Duration of study: Department of Neurosurgery, Jinnah Postgraduate Medical Centre Karachi from December 2001 to December 2006.Patients and Methods: The medical record of 415 children with myelomeningocele operated at our center was reviewed retrospectively. The surgical & medical management protocol used for different sites of myelomeningocele was studied.Results: The age of most of the patients at the time of myelomeningocele repair was between 25-30 days; however, children with ruptured myelomeningocele were consistently repaired early. All paraplegic patients with dorsolumbar myelomeningocele were treated with either a low-pressure ventriculoperitoneal (VP) shunt only, direct repair or both. Patients with cervical, dorsal and lumbo-sacral myelomeningocele requiring VP shunt were operated either simultaneously for both procedures or with delayed insertions of a VP shunt after treatment of ventriculitis All 16 patients with ruptured myelomeningocele (3.8%) were treated for repair as well as ventriculitis. Complications including CSF leak, wound infection or necrosis after repair of myelomeningocele occurred in 22 cases (5.3%). The postoperative follow up for all patients was 1- 2 years.Conclusions: Surgical intervention with a low-pressure VP shunt in large dorsolumbar myelomeningocele produced good results