Current and emerging 3D visualization technologies in radiology.

As the field of three-dimensional (3D) visualization rapidly advances, how healthcare professionals perceive and interact with real and virtual objects becomes increasingly complex. Lack of clear vocabulary to navigate the changing landscape of 3D visualization hinders clinical and scientific advancement, particularly within the field of radiology. In this article, we provide foundational definitions and illustrative examples for 3D visualization in clinical care, with a focus on the pediatric patient population. We also describe how understanding 3D visualization tools enables better alignment of hardware and software products with intended use-cases, thereby maximizing impact for patients, families, and healthcare professionals.

CT-Based Modeling of the Dentition for Craniomaxillofacial Surgical Planning.

ABSTRACT: Historically, the accuracy of imaging teeth by computed tomography (CT) has been suboptimal and deemed inadequate for surgical planning of orthognathic procedures. However, recent advances in CT hardware and software have significantly improved the accuracy of imaging occlusal anatomy. This technical note describes a quantitative means of evaluating the accuracy of CT-based modeling of teeth. Three-dimensional models of the dentition were created from a CT scan obtained of a craniomaxillofacial skeleton. Multiple reconstruction algorithms and modeling parameters were applied. The dentition of the same skeleton was scanned using a handheld optical scanning device to serve as the "gold standard." Semi-automated registrations of CT and optically acquired models were performed and deviation analysis was conducted. On average, the deviation of the CT model with the optical scan measured 0.19 to 0.25 mm across the various reconstruction and modeling parameters, with a mean of 0.22 mm. Computed tomography underestimated contours at cusp tips, while overestimating contours in occlusal groves. The use of bone reconstruction algorithms and decreased model smoothing resulted in more accurate models, though greater surface noise. Future studies evaluating the clinical effectiveness of CT-based occlusal splints should take this finding into account.

Segmental Imaging of the Trochlear Nerve: Anatomic and Pathologic Considerations.

BACKGROUND: The trochlear nerve (the fourth cranial nerve) is the only cranial nerve that arises from the dorsal aspect of the midbrain. The nerve has a lengthy course making it highly susceptible to injury. It is also the smallest cranial nerve and is often difficult to identify on neuroimaging. EVIDENCE ACQUISITION: High-resolution 3-dimensional skull base MRI allows for submillimeter isotropic acquisition and is optimal for cranial nerve evaluation. In this text, the detailed anatomy of the fourth cranial nerve applicable to imaging will be reviewed. RESULTS: Detailed anatomic knowledge of each segment of the trochlear nerve is necessary in patients with trochlear nerve palsy. A systematic approach to identification and assessment of each trochlear nerve segment is essential. Pathologic cases are provided for each segment. CONCLUSIONS: A segmental approach to high-resolution 3-dimensional MRI for the study of the trochlear nerve is suggested.

Expanding the spectrum of CEP55-associated disease to viable phenotypes.

Homozygosity for nonsense variants in CEP55 has been associated with a lethal condition characterized by multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly (MARCH syndrome) also known as Meckel-like syndrome. Missense variants in CEP55 have not previously been reported in association with disease. Here we describe seven living individuals from five families with biallelic CEP55 variants. Four unrelated individuals with microcephaly, speech delays, and bilateral toe syndactyly all have a common CEP55 variant c.70G>A p.(Glu24Lys) in trans with nonsense variants. Three siblings are homozygous for a consensus splice site variant near the end of the gene. These affected girls all have severely delayed development, microcephaly, and varying degrees of lissencephaly/pachygyria. Here we compare our seven patients with three previously reported families with a prenatal lethal phenotype (MARCH syndrome/Meckel-like syndrome) due to homozygous CEP55 nonsense variants. Our series suggests that individuals with compound heterozygosity for nonsense and missense variants in CEP55 have a different viable phenotype. We show that homozygosity for a splice variant near the end of the CEP55 gene is also compatible with life.

Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa.

Progeroid disorders overlapping with De Barsy syndrome (DBS) are collectively denoted as autosomal-recessive cutis laxa type 3 (ARCL3). They are caused by biallelic mutations in PYCR1 or ALDH18A1, encoding pyrroline-5-carboxylate reductase 1 and pyrroline-5-carboxylate synthase (P5CS), respectively, which both operate in the mitochondrial proline cycle. We report here on eight unrelated individuals born to non-consanguineous families clinically diagnosed with DBS or wrinkly skin syndrome. We found three heterozygous mutations in ALDH18A1 leading to amino acid substitutions of the same highly conserved residue, Arg138 in P5CS. A de novo origin was confirmed in all six probands for whom parental DNA was available. Using fibroblasts from affected individuals and heterologous overexpression, we found that the P5CS-p.Arg138Trp protein was stable and able to interact with wild-type P5CS but showed an altered sub-mitochondrial distribution. A reduced size upon native gel electrophoresis indicated an alteration of the structure or composition of P5CS mutant complex. Furthermore, we found that the mutant cells had a reduced P5CS enzymatic activity leading to a delayed proline accumulation. In summary, recurrent de novo mutations, affecting the highly conserved residue Arg138 of P5CS, cause an autosomal-dominant form of cutis laxa with progeroid features. Our data provide insights into the etiology of cutis laxa diseases and will have immediate impact on diagnostics and genetic counseling.

Twenty-Five Diagnoses on Midline Images of the Brain: From Fetus to Child to Adult.

Midsagittal images of the brain provide a wealth of anatomic information and may show abnormalities that are pathognomonic for particular diagnoses. Using an anatomy-based approach, the authors identify pertinent anatomic structures to serve as a checklist when evaluating these structures. Subregions evaluated include the corpus callosum, pituitary gland and sellar region, pineal gland and pineal region, brainstem, and cerebellum. The authors present 25 conditions with characteristic identifiable abnormalities at midsagittal imaging. Midsagittal views from multiple imaging modalities are shown, including computed tomography, ultrasonography, and magnetic resonance (MR) imaging. Standard MR imaging sequences are shown, as well as fetal MR and sagittal diffusion-weighted images. To demonstrate these conditions, fetal, neonatal, childhood, adolescent, and young adulthood images are reviewed. The differentiation of normal variants is guided by the understanding of anatomy and pathology. When a specific diagnosis is not possible, the authors present information to evaluate differential considerations and discuss when follow-up imaging may be indicated. The authors hope each case will clarify a pertinent differential diagnosis, appropriately guide patient management, and improve understanding of normal anatomy and identification of pathologic entities. It is in these hopes that the authors have presented a checklist of pertinent anatomy and pathologic entities that can build on existing search patterns. Improved confidence and accuracy in the evaluation of midsagittal images will benefit physicians and patients. ©RSNA, 2018.

Premature pubarche in children with Pompe disease.

Pompe disease (PD), or glycogen storage disease type II, results from deficiency of acid α-glucosidase. Patients with infantile-onset PD die by early childhood if untreated. Patient survival has improved with enzyme replacement therapy. We report a case series of 8 patients with infantile-onset PD on enzyme replacement therapy with premature pubarche.

Trigeminal nerve agenesis with absence of foramina rotunda in Gómez-López-Hernández syndrome.

Gómez-López-Hernández syndrome (GLHS) is a clinical condition traditionally characterized by rhombencephalosynapsis (RS), parieto-occipital alopecia, and trigeminal anesthesia. It is a neurocutaneous disorder with no known etiology. The underlying cause of the trigeminal anesthesia in GLHS has not been examined or reported; it has merely been identified on clinical grounds. In this report, a 10-month-old white female born at 37 weeks gestational age with GLHS underwent a contrast-enhanced CT for the evaluation of craniofacial dysmorphic features. Thin-section bone algorithm images showed absence of bilateral foramina rotunda and trigeminal nerve fibers. The maxillary branch of the trigeminal nerve passes through the foramen rotundum and carries sensory information from the face. This case is unique because trigeminal nerve absence has not been suggested as a possible etiology for trigeminal anesthesia associated with GLHS. It is not known how many cases of GLHS have agenesis of the trigeminal nerve; however, a review of the literature suggests that this patient is the first. The triad of RS, alopecia, and trigeminal anesthesia is specific to GLHS; therefore, early identification of trigeminal nerve agenesis in patients with RS could expedite diagnosis of GLHS, particularly given that the clinical diagnosis of trigeminal anesthesia in neonates is a challenging one. Diagnosing alopecia in newborns is likewise challenging. Early diagnosis could allow for early intervention, especially for ophthalmic complications, which are known to have significant long-term effects. This case illustrates the benefits of CT imaging in the detection of trigeminal nerve and foramina rotunda abnormalities in neonates with suspected GLHS.

Radiology of Cleft Lip and Palate: Imaging for the Prenatal Period and throughout Life.

Recent advances in prenatal imaging have made possible the in utero diagnosis of cleft lip and palate and associated deformities. Postnatal diagnosis of cleft lip is made clinically, but imaging still plays a role in detection of associated abnormalities, surgical treatment planning, and screening for or surveillance of secondary deformities. This article describes the clinical entities of cleft lip with or without cleft palate (CLP) and isolated cleft palate and documents their prenatal and postnatal appearances at radiography, ultrasonography (US), magnetic resonance (MR) imaging, and computed tomography (CT). Imaging protocols and findings for prenatal screening, detection of associated anomalies, and evaluation of secondary deformities throughout life are described and illustrated. CLP and isolated cleft palate are distinct entities with shared radiologic appearances. Prenatal US and MR imaging can depict clefting of the lip or palate and associated anomalies. While two- and three-dimensional US often can depict cleft lip, visualization of cleft palate is more difficult, and repeat US or fetal MR imaging should be performed if cleft palate is suspected. Postnatal imaging can assist in identifying associated abnormalities and dentofacial deformities. Dentofacial sequelae of cleft lip and palate include missing and supernumerary teeth, oronasal fistulas, velopharyngeal insufficiency, hearing loss, maxillary growth restriction, and airway abnormalities. Secondary deformities can often be found incidentally at imaging performed for other purposes, but detection is necessary because they may have considerable implications for the patient.

Security Issues for Mobile Medical Imaging: A Primer.

The end-user of mobile device apps in the practice of clinical radiology should be aware of security measures that prevent unauthorized use of the device, including passcode policies, methods for dealing with failed login attempts, network manager-controllable passcode enforcement, and passcode enforcement for the protection of the mobile device itself. Protection of patient data must be in place that complies with the Health Insurance Portability and Accountability Act and U.S. Federal Information Processing Standards. Device security measures for data protection include methods for locally stored data encryption, hardware encryption, and the ability to locally and remotely clear data from the device. As these devices transfer information over both local wireless networks and public cell phone networks, wireless network security protocols, including wired equivalent privacy and Wi-Fi protected access, are important components in the chain of security. Specific virtual private network protocols, Secure Sockets Layer and related protocols (especially in the setting of hypertext transfer protocols), native apps, virtual desktops, and nonmedical commercial off-the-shelf apps require consideration in the transmission of medical data over both private and public networks. Enterprise security and management of both personal and enterprise mobile devices are discussed. Finally, specific standards for hardware and software platform security, including prevention of hardware tampering, protection from malicious software, and application authentication methods, are vital components in establishing a secure platform for the use of mobile devices in the medical field.

Understanding bibliometric parameters and analysis.

Bibliometric parameters have become an important part of modern assessment of academic productivity. These parameters exist for the purpose of evaluating authors (publication count, citation count, h-index, m-quotient, hc-index, e-index, g-index, i-10 [i-n] index) and journals (impact factor, Eigenfactor, article influence score, SCImago journal rank, source-normalized impact per paper). Although in recent years there has been a proliferation of bibliometric parameters, the true meaning and appropriate use of these parameters is generally not well understood. Effective use of existing and emerging bibliometric tools can aid in assessment of academic productivity, including readiness for promotions and other awards. However, if not properly understood, the data can be misinterpreted and may be subject to manipulation. Familiarity with bibliometric parameters will aid in their effective implementation in the review of authors-whether individuals or groups-and journals, as well as their possible use in the promotions review process, maximizing the effectiveness of bibliometric analysis.

High-Resolution 3D Magnetic Resonance Imaging of the Sixth Cranial Nerve: Anatomic and Pathologic Considerations by Segment.

BACKGROUND: Weakness of the sixth cranial nerve is the most common cause of an ocular motor cranial nerve palsy. It is often difficult to identify a corresponding abnormality on neuroimaging to correlate with the clinical examination. EVIDENCE ACQUISITION: High-resolution 3D skull base magnetic resonance imaging (MRI) allows for visualization of the sixth nerve along much of its course and may increase sensitivity for abnormalities in regions that previously were challenging to evaluate. In this review, the authors share their experience with high-resolution imaging of the sixth nerve. RESULTS: For each segment, anatomic features visible on high-resolution imaging are described along with relevant pathologic entities. CONCLUSIONS: We present a segmental approach to high-resolution 3D MRI for evaluation of the sixth nerve from the nuclear to the orbital segment.

Intraoperative MRI in pediatric brain tumors.

Intraoperative magnetic resonance imaging (iMRI) has emerged as an important tool in guiding the surgical management of children with brain tumors. Recent advances have allowed utilization of high field strength systems, including 3-tesla MRI, resulting in diagnostic-quality scans that can be performed while the child is on the operating table. By providing information about the possible presence of residual tumor, it allows the neurosurgeon to both identify and resect any remaining tumor that is thought to be safely accessible. By fusing the newly obtained images with the surgical guidance software, the images have the added value of aiding in navigation to any residual tumor. This is important because parenchyma often shifts during surgery. It also gives the neurosurgeon insight into whether any immediate postoperative complications have occurred. If any complications have occurred, the child is already in the operating room and precious minutes lost in transport and communications are saved. In this article we review the three main approaches to an iMRI system design. We discuss the possible roles for iMRI during intraoperative planning and provide guidance to help radiologists and neurosurgeons alike in the collaborative management of these children.

Geometry of anterior open bite correction.

Correction of anterior open bite is a frequently encountered and challenging problem for the craniomaxillofacial surgeon and orthodontist. Accurate clinical evaluation, including cephalometric assessment, is paramount for establishing the diagnosis and appropriate treatment plan. The purposes of this technical note were to discuss the basic geometric principles involved in the surgical correction of skeletal anterior open bites and to offer a simple mathematical model for predicting the amount of posterior maxillary impaction with concomitant mandibular rotation required to establish an adequate overbite. Using standard geometric principles, a mathematical model was created to demonstrate the relationship between the magnitude of the open bite and the magnitude of the rotational movements required for correction. This model was then validated using a clinical case. In summary, the amount of open bite closure for a given amount of posterior maxillary impaction depends on anatomic variables, which can be obtained from a lateral cephalogram. The clinical implication of this relationship is as follows: patients with small mandibles and steep mandibular occlusal planes will require greater amounts of posterior impaction.

Parenteral nutrition compromises neurodevelopment of preterm pigs.

BACKGROUND: Despite advances in nutritional support and intensive care, preterm infants are at higher risk of compromised neurodevelopment. OBJECTIVE: This study evaluated the contribution of total parenteral nutrition (PN) to compromised neurodevelopment after preterm birth. METHODS: Preterm pigs were provided PN or enteral nutrition (EN) for 10 d. Neurodevelopment was assessed by observations of motor activity and evaluation of sensory/motor reflexes, brain weight, MRI, and cerebellar histology. RESULTS: Despite similar gains in body weight, PN pigs had smaller brains (32 ± 0.4 vs. 35 ± 0.6 g; P = 0.0002) including the cerebellum, as well as reduced motor activity (P = 0.005), which corresponded to underdeveloped myelination (P = 0.004) measured by diffusion tensor imaging. PN resulted in lower serum triglycerides (17 ± 5.9 vs. 27 ± 3.1 mg/dL; P = 0.05), total cholesterol (31 ± 9.6 vs. 85 ± 8.1 mg/dL; P = 0.04), VLDL cholesterol (3.7 ± 1.2 vs. 5.7 ± 0.7 mg/dL; P = 0.04), and HDL cholesterol (16 ± 4.6 vs. 57 ± 7.3 mg/dL; P = 0.03) and nonsignificantly lower LDL cholesterol (10.7 ± 4.4 vs. 22.7 ± 2.9 mg/dL; P = 0.09). CONCLUSIONS: The compromised neurodevelopment caused by total PN is a novel finding, was independent of confounding variables (disease, inconsistent gestational ages, diverse genetics, extrauterine growth retardation, and inconsistent neonatal intensive care unit protocols), and highlights a need to improve current PN solutions. The preterm pig is a translational animal model for improving nutrition support to enhance neurodevelopment of preterm infants requiring PN.