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Continual re-evaluation of standards for forensic anthropological analyses are necessary, particularly as new methods are explored or as populations change. Indian South Africans are not a new addition to the South African population; however, a paucity of skeletal material is available for analysis from medical school collections, which has resulted in a lack of information on the sexual dimorphism in the crania. For comparable data, computed tomography scans of modern Black, Coloured and White South Africans were included in addition to Indian South Africans. Four cranial morphoscopic traits, were assessed on 408 modern South Africans (equal sex and population distribution). Frequencies, Chi-squared tests, binary logistic regression and random forest modelling were used to assess the data. Males were more robust than females for all populations, while White South African males were the most robust, and Black South African females were the most gracile. Population differences were noted among most groups for at least two variables, necessitating the creation of populations-specific binary logistic regression equations. Only White and Coloured South Africans were not significantly different. Indian South Africans obtained the highest correct classifications for binary logistic regression (94.1%) and random forest modelling (95.7%) and Coloured South Africans had the lowest correct classifications (88.8% and 88.0%, respectively). This study provides a description of the patterns of sexual dimorphism in four cranial morphoscopic traits in the current South African population, as well as binary logistic regression functions for sex estimation of Black, Coloured, Indian and White South Africans.
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Fibrous dysplasia (FD) is a rare, non-inherited, congenital bone disorder which may be monostotic or polyostotic. The polyostotic form may rarely present in syndromic forms when associated with extra-skeletal manifestations. Mazabraud syndrome is a rare syndrome consisting of polyostotic FD presenting with intramuscular myxomas. McCune-Albright syndrome is recognised by polyostotic FD, precocious puberty and 'café au lait' spots. This report describes an adult patient with Mazabraud syndrome and a child with McCune-Albright syndrome. Contribution: Radiographic findings are typical with bowing deformities, sclerotic, lucent or mixed lesions and bony expansion, often with endosteal scalloping. MRI is often non-contributory and may actually mimic a more aggressive process. Early detection and correct diagnosis allow for early preventative treatment and rehabilitation to prevent devastating neurological sequelae and disability.
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Despite significant progress in the prevention, screening, diagnosis, prognosis, and therapy of breast cancer (BC), it remains a highly prevalent and life-threatening disease affecting millions worldwide. Molecular subtyping of BC is crucial for predictive and prognostic purposes due to the diverse clinical behaviors observed across various types. The molecular heterogeneity of BC poses uncertainties in its impact on diagnosis, prognosis, and treatment. Numerous studies have highlighted genetic and environmental differences between patients from different geographic regions, emphasizing the need for localized research. International studies have revealed that patients with African heritage are often diagnosed at a more advanced stage and exhibit poorer responses to treatment and lower survival rates. Despite these global findings, there is a dearth of in-depth studies focusing on communities in the African region. Early diagnosis and timely treatment are paramount to improving survival rates. In this context, radiogenomics emerges as a promising field within precision medicine. By associating genetic patterns with image attributes or features, radiogenomics has the potential to significantly improve early detection, prognosis, and diagnosis. It can provide valuable insights into potential treatment options and predict the likelihood of survival, progression, and relapse. Radiogenomics allows for visual features and genetic marker linkage that promises to eliminate the need for biopsy and sequencing. The application of radiogenomics not only contributes to advancing precision oncology and individualized patient treatment but also streamlines clinical workflows. This review aims to delve into the theoretical underpinnings of radiogenomics and explore its practical applications in the diagnosis, management, and treatment of BC and to put radiogenomics on a path towards fully integrated diagnostics.
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Congenital giant orbital tumors in infancy are relatively rare, especially when the tumors are associated with significant intracranial extension. We describe the use of a transorbital neuroendoscopy-assisted resection of such a lesion. While this approach is increasingly gaining popularity for certain anterior and middle skullbase lesions in adults, this report represents the youngest patient reported on where this minimally invasive approach has been successfully used to resect the intracranial tumor. This surgical approach obviated the need for a separate craniotomy, with the additional benefit of minimizing blood loss.
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Neuroendoscopia , Glioma do Nervo Óptico , Adulto , Recém-Nascido , Humanos , Craniotomia , Base do CrânioRESUMO
PURPOSE: To describe the evolution of swallowing and feeding abilities of neonates with hypoxic-ischaemic encephalopathy (HIE) during hospitalisation. METHOD: A longitudinal cohort study was used. Twenty-nine participants (median age 39.0 weeks [IQR = 2.0 weeks]) with mild (n = 7), moderate (n = 19) and severe (n = 3) HIE were included. Clinical swallowing and feeding assessments were conducted at introduction of oral feeds and at discharge using the Neonatal Feeding Assessment Scale (NFAS). Videofluoroscopic swallow studies (VFSS) supplemented the NFAS before discharge. RESULT: Approximately two thirds of participants showed symptoms of oropharyngeal dysphagia (OPD) during initial NFAS and VFSS. Significantly fewer OPD symptoms occurred at discharge NFAS (p = 0.004). Endurance during non-nutritive sucking (p < 0.001) and nutritive sucking (p < 0.001) significantly improved. Nine participants (31.0%) demonstrated penetration or aspiration. Most aspiration events were silent (60%). Instrumental assessment identified pharyngeal phase dysphagia more effectively than bedside evaluation. High proportions of participants displayed OPD symptoms regardless of HIE severity. The correlation between OPD severity and the length of hospitalisation (p = 0.052) was not significant. CONCLUSION: All grades of HIE should be considered for early intervention by speech-language pathologists before discharge. Findings may be valuable to neonatal feeding teams.
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In cases where a deceased child exhibits trauma as a result of a physical abuse blunt impact load, a parent/caregiver may provide a simple short fall (SSF) as the justification for that trauma. The skeletal fractures remain difficult to differentiate between a SSF and physical abuse however, as both are the result of a blunt impact load, and are therefore biomechanically alike, and the rare nature of these fatalities means only anecdotal research has been available to validate such claims. The aim of this pilot study was to investigate if there may be differences in the skeletal fracture patterns and types resulting from SSFs compared with those resulting from physical abuse blunt impacts. Paediatric (<10 years) cases of fatal SSFs (≤1.5 m) and physical abuse were collected from the Victorian Institute of Forensic Medicine (Australia), Institut Médico-Légal de Paris (France), University of Pretoria (South Africa) and Great Ormond Street Hospital (England). For each case the intrinsic and extrinsic variables were recorded from medico-legal reports and skeletal trauma was documented using post-mortem computed tomography scans and/or skeletal surveys. Three SSFs and 18 physical abuse cases were identified. Of the SSF cases, two exhibited fractures; both of which were simple linear neurocranial fractures. Comparatively, 12 of the physical abuse cases exhibited fractures and these were distributed across the skeleton; 58% located only in the skull, 17% only in the post-cranial and 25% located in both. Skull fracture types were single linear, multiple linear and comminuted. This pilot study suggests, anecdotally, there may be differences in the fracture patterns and types between blunt impact loads resulting from a SSF and physical abuse. This data will form the foundation of the Registry of Paediatric Fatal Fractures (RPFF) which, with further multicentre contributions, would allow this finding to be validated.
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BACKGROUND: Congenital anomalies occur in approximately 2% of newborns, resulting in severe medical, physical and social disabilities. Managing clinicians, therefore, require more confidence in their diagnosis and prognostic accuracy before appropriately counselling the parents regarding termination of pregnancy. OBJECTIVE: The aim of this study was to investigate the role of magnetic resonance imaging (MRI) following the diagnosis of foetal anomalies at a foetomaternal unit of a tertiary South African institution. METHODS: Eighty-eight pregnant women in their late second/third trimester who underwent both an ultrasound (US) at the foetomaternal unit and foetal MRI at the Radiology Department from 01 July 2013 to 30 September 2019 were included in this clinical study conducted at Steve Biko Academic Hospital. RESULTS: Despite the high degree of concurrence (73.9%) between both modalities regarding the main diagnoses, MRI provided additional information in 45.5% of patients and changed the diagnosis in 25% of the patients. It further demonstrated superiority in providing diagnostic information in 97% of cases where the US alone was inadequate to counsel parents regarding the termination of pregnancy, and it completely changed the clinical management in 42% of cases. CONCLUSION: It is clearly evident from this study that foetal MRI is a necessity when termination of pregnancy is being considered following an US conducted by the foetomaternal unit. This allows for a complete foetal assessment and gives the managing clinician sufficient diagnostic confidence to prognosticate the future quality of life of the child.
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Endocasts (i.e., replicas of the inner surface of the bony braincase) constitute a critical proxy for qualifying and quantifying variations in brain shape and organization in extinct taxa. In the absence of brain tissues preserved in the fossil record, endocasts provide the only direct evidence of brain evolution. However, debates on whether or not information inferred from the study of endocasts reflects brain shape and organization have polarized discussions in paleoneurology since the earliest descriptions of cerebral imprints in fossil hominin crania. By means of imaging techniques (i.e., MRIs and CT scans) and 3D modelling methods (i.e., surface-based comparisons), we collected consistent morphological (i.e., shape) and structural (i.e., sulci) information on the variation patterns between the brain and the endocast based on a sample of extant human individuals (N = 5) from the 3D clinical image database of the Steve Biko Academic Hospital in Pretoria (South Africa) and the Hôpitaux Universitaires Pitié Salpêtrière in Paris (France). Surfaces of the brain and endocast of the same individual were segmented from the 3D MRIs and CT images, respectively. Sulcal imprints were automatically detected. We performed a deformation-based shape analysis to compare both the shape and the sulcal pattern of the brain and the endocast. We demonstrated that there is close correspondence in terms of morphology and organization between the brain and the corresponding endocast with the exception of the superior region. By comparatively quantifying the shape and organization of the brain and endocast, this work represents an important reference for paleoneurological studies.
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Encéfalo/diagnóstico por imagem , Imageamento Tridimensional/métodos , Neuroimagem/métodos , Feminino , Humanos , MasculinoRESUMO
BACKGROUND: Bobble-head doll syndrome is a rare neurological syndrome presenting with repetitive anteroposterior head movements. It is usually associated with expansile cystic lesions in the third ventricular region. CASE DESCRIPTION: An 8-year-old boy presented with involuntary bobbling head movements. Magnetic resonance imaging of the brain revealed an extensive suprasellar cyst resulting in obstructive hydrocephalus. Endoscopic ventriculo-cysto-cisternostomy resulted in improved clinical outcome. CONCLUSIONS: Endoscopic ventriculo-cysto-cisternostomy is an effective, less-invasive technique in the treatment of suprasellar cysts that results in resolution of the bobbling head movements.
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Cistos Aracnóideos/etiologia , Cistos do Sistema Nervoso Central/complicações , Discinesias/etiologia , Hidrocefalia/etiologia , Terceiro Ventrículo/anormalidades , Ventriculostomia/métodos , Cistos Aracnóideos/diagnóstico por imagem , Cistos Aracnóideos/cirurgia , Cistos do Sistema Nervoso Central/diagnóstico por imagem , Cistos do Sistema Nervoso Central/cirurgia , Criança , Discinesias/diagnóstico por imagem , Discinesias/cirurgia , Humanos , Hidrocefalia/diagnóstico por imagem , Hidrocefalia/cirurgia , Imageamento por Ressonância Magnética , Masculino , Terceiro Ventrículo/diagnóstico por imagem , Terceiro Ventrículo/cirurgia , Resultado do TratamentoRESUMO
Surface anatomy is considered a fundamental part of anatomy curricula and clinical practice. Recent studies have reappraised surface anatomy using CT, but the adolescent age group has yet to be appraised. Sixty adolescent thoracoabdominal CT scans (aged 12-18 years) were examined. The surface anatomy of the central veins, cardiac apex, diaphragmatic openings, and structures in relation to the sternal angle plane were analyzed. The results showed that the brachiocephalic vein (left and right) formed mostly posterior to the sternoclavicular joint. The superior vena cava formed close to the second costal cartilage, ±16.3 mm to the right of the midline. The apex of the heart was located in relation to the fifth intercostal space; ±78.6 mm to the left of the midline. The caval hiatus was in relation to T9 and T10; the esophageal hiatus was at T10; whereas the aortic hiatus was at T11. The sternal angle plane was in relation to the upper half of T5, which was also where the bifurcations of the trachea and pulmonary trunk were observed. The SVC/azygos vein junction and the concavity of the aortic arch were observed to be more than 10 mm superior to this plane. The results of this study further highlight the substantial variability of the surface anatomy between age groups. It also emphasizes the notion that surface anatomy is a dynamic variable and cannot be treated as a static observation. Clin. Anat. 32:762-769, 2019. © 2019 Wiley Periodicals, Inc.
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Tórax/anatomia & histologia , Adolescente , Pontos de Referência Anatômicos , Veia Ázigos/anatomia & histologia , Veias Braquiocefálicas/anatomia & histologia , Diafragma/anatomia & histologia , Feminino , Humanos , Masculino , Articulação Esternoclavicular/anatomia & histologia , Tomografia Computadorizada por Raios X , Veia Cava Superior/anatomia & histologiaRESUMO
Imaging plays many essential roles in nearly all aspects of high-quality cancer care. However, challenges to the delivery of optimal cancer imaging in both developing and advanced countries are manifold. Developing countries typically face dramatic shortages of both imaging equipment and general radiologists, and efforts to improve cancer imaging in these countries are often complicated by poor infrastructure, cultural barriers, and other obstacles. In advanced countries, on the other hand, although imaging equipment and general radiologists are typically accessible, the complexity of oncologic imaging and the need for subspecialists in the field are largely unrecognized; as a result, training opportunities are lacking, and there is a shortage of radiologists with the necessary subspecialty expertise to provide optimal cancer care and participate in advanced clinical research. This article is intended to raise awareness of these challenges and catalyze further efforts to address them. Some promising strategies and ongoing efforts are reviewed, and some specific actions are proposed.
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Neoplasias/diagnóstico por imagem , Neoplasias/epidemiologia , Radioterapia (Especialidade) , Atenção à Saúde , Países Desenvolvidos , Países em Desenvolvimento , Saúde Global , Custos de Cuidados de Saúde , Acessibilidade aos Serviços de Saúde , Humanos , Competência Profissional , Radioterapia (Especialidade)/métodos , Radioterapia (Especialidade)/normasRESUMO
Although guidelines for facial approximations, including those for the eye, are in use in South Africa, limited data on African populations exist to confirm its validity. As precise placement of the eyes in facial approximations is of importance for facial recognition, this study tested established guidelines by measuring specific instrumental dimensions. Forty-nine cadavers from the Sefako Makgatho Health Sciences University and the University of Pretoria were dissected to determine the position of the canthi and the size and position of the eyeball in the orbit. Thirty cone beam computer tomography scans and 30 computer tomography scans from the Oral and Dental and Steve Biko Hospitals respectively were used to determine the size of the eyeball. Results from this study were compared to the published guidelines. The most prominent discrepancies included a more rectangular shape of the orbit, an oval shaped eyeball and a different position of the canthi. In African faces, the medial canthus was found to be located higher than the lateral canthus. The distance between the endocanthion and superior orbital margin was 17.7mm and the exocanthion and superior orbital margin 19.5mm. Inter-population differences may have an effect on facial approximations and its accuracy as is often demonstrated in practice. The findings of this study should be taken into consideration when designing population specific guidelines for reconstruction of the eye in South Africans of African ancestry.
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População Negra , Olho/anatomia & histologia , Órbita/anatomia & histologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Cadáver , Tomografia Computadorizada de Feixe Cônico , Olho/diagnóstico por imagem , Feminino , Humanos , Processamento de Imagem Assistida por Computador , Aparelho Lacrimal/anatomia & histologia , Aparelho Lacrimal/diagnóstico por imagem , Masculino , Pessoa de Meia-Idade , Órbita/diagnóstico por imagem , África do Sul , Tomografia Computadorizada por Raios X , Adulto JovemRESUMO
Colorectal carcinoma in children and adolescents is extremely rare, with an annual incidenceâ¯<0.3 cases per million, most frequently reported in the second decade of life. It accounts for severe morbidity and poor prognosis owing to the low index of suspicion, delayed diagnosis, advanced stage at presentation and the aggressive tumor nature. Patients present with abdominal pain, vomiting, constipation, abdominal distension, rectal tenesmus, iron-deficiency anemia, change in bowel habit and weight loss. Rectal bleeding is an uncommon presentation in children. Bowel obstruction presents frequently in children compared to adults. In 90% of pediatric cases, colorectal carcinoma occurs sporadically. In 10%, predisposing conditions and syndromes are identified. We present a case study of a 12-year-old female with advanced colorectal cancer without a predisposing disease or syndrome, who received radio-chemotherapy ten weeks prior to radical abdominopelvic surgery, followed by radio-chemotherapy postoperatively, with a positive outcome.
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Neoplasias Colorretais/mortalidade , Neoplasias Colorretais/terapia , Terapia Combinada , Recursos em Saúde , Cuidados Pré-Operatórios , Radioterapia , Fatores Etários , Neoplasias Colorretais/diagnóstico , Neoplasias Colorretais/epidemiologia , Países em Desenvolvimento , Feminino , Humanos , Prognóstico , Radioterapia/métodos , Tomografia Computadorizada por Raios X , Resultado do Tratamento , Adulto JovemRESUMO
Progressive multifocal leucoencephalopathy (PML) is a progressive demyelinating condition resulting from infection with the John Cunningham virus and precipitated by immunocompromised states. The HIV pandemic, especially in sub-Saharan Africa, has resulted in an increase in the number of patients presenting with PML. Imaging plays an important role in diagnosis and the distribution of the disease is predominantly supratentorial. Isolated posterior fossa involvement is a rare finding with very few cases described in the literature. We present the largest case series of patients described in the literature, with isolated posterior fossa involvement of PML, in HIV-positive patients.