Enfermedad de Caffey: reporte de un caso clínico / Caffey's disease: report of a clinical case / Doença de Caffey: relato de um caso clínico

Introducción: La enfermedad de Caffey es una patología ósea inflamatoria, rara, autolimitada, casi exclusiva de lactantes. Objetivos: Jerarquizar el abordaje diagnóstico de una patología poco frecuente. Caso clínico: 4 meses 22 días, varón, consulta por irritabilidad y edema de miembro inferior izquierdo de 4 días de evolución. Sin traumatismos ni fiebre. Examen físico: edema indurado en tercio medio e inferior de pierna izquierda, no rubor ni calor local. Dolor a la palpación de cara anterior y lateral de tibia y peroné. Limitación funcional, no resaltos óseos. Radiografía: engrosamiento del periostio en tibia y peroné a nivel diafisario. Hemograma: Glóbulos blancos 15.380 KU/L, Hemoglobina 10,8 g/dL, Plaquetas 816.400 10/ul, proteína C reactiva 13,90 mg/dl. Con planteo de probable infección osteoarticular se inicia clindamicina ( gentamicina e ingresa a cuidados moderados. Dada la persistencia de edema e irritabilidad, al quinto día se solicita resonancia magnética: hallazgos sugerentes de un probable proceso inflamatorio- infeccioso de partes blandas con compromiso óseo. Completa 14 días de clindamicina y 7 días de gentamicina intravenosa, hemocultivo negativo. Persiste con edema, irritabilidad y dolor. A los 21 días, se revalora la presentación clínica-imagenológica, se plantea enfermedad de Caffey. Se inicia anti-inflamatorio con buena evolución. Conclusiones: La enfermedad de Caffey es una colagenopatía rara, que afecta lactantes. El diagnóstico es clínico - radiológico (irritabilidad, tumefacción de partes blandas y alteraciones radiológicas). El pronóstico a largo plazo suele ser favorable. Es importante considerar el diagnóstico en lactantes que se presentan con esta sintomatología para evitar retrasos diagnósticos e instauración de tratamientos innecesarios.

Introduction: Caffey's disease is a rare disease that is reported almost exclusively in infants. Objective: Describe the case of a rare pathology, prioritizing the diagnostic approach. Clinical case: 4 month -old, healthy male. Consultation due to irritability and edema of the left lower limb for 4 days. No trauma or fever. Physical examination: indurated edema in the left leg, no redness or local heat. Pain on palpation of the anterior and lateral aspect of the tibia and fibula. Functional limitation, no bony protusions. Leg x-ray: thickening of the periosteum in the tibia and fibula at the diaphyseal level. Hemogram: White Blood Cells 15,380 KU/L Hemoglobin: 10.8 g/dL. Platelets: 816,400 10/ul, C-reactive protein: 13.90 mg/dl. He was admitted with a suggestion of probable osteoarticular infection. Clindamycin ( gentamicin is started. Given the persistence of edema and irritability despite treatment, on the fifth day an MRI was requested: findings suggestive of a probable inflammatory-infectious process of soft tissues with bone involvement. Completed 14 days of clindamycin and 7 days of intravenous gentamicin, blood culture negative. It persists with edema, irritability and pain. After 21 days, the clinical-imaging presentation was reassessed and Caffey's disease was considered. Anti-inflammatory begins with good evolution. Conclusions: Caffey's disease is a rare collagenopathy, that affects infants. The diagnosis is clinical - radiological (irritability, soft tissue swelling and radiological alterations). The long-term prognosis is usually favorable. It is important to consider the diagnosis in infants who present with these symptoms to avoid diagnostic delays and initiation of unnecessary treatments.

Introdução: A doença de Caffey é uma patologia óssea inflamatória rara, autolimitada, quase exclusiva de lactentes. Objetivos: Priorizar a abordagem diagnóstica de uma patologia rara. Caso clínico: 4 meses 22 dias, sexo masculino, consulta por irritabilidade e edema do membro inferior esquerdo de 4 dias de evolução. Sem trauma ou febre. Exame físico: edema endurecido em terço médio e inferior da perna esquerda, sem vermelhidão ou calor local. Dor à palpação das faces anterior e lateral da tíbia e fíbula. Limitação funcional, sem saliências ósseas. Radiografia: espessamento do periósteo na tíbia e fíbula ao nível diafisário. Hemograma: Glóbulos brancos 15.380 KU/L, Hemoglobina 10,8 g/dL, Plaquetas 816.400 10/ul, Proteína C reativa 13,90 mg/dl. Com sugestão de provável infecção osteoarticular, foi iniciada clindamicina + gentamicina e internado em cuidados moderados. Dada a persistência do edema e da irritabilidade, no quinto dia foi solicitada ressonância magnética: achados sugestivos de provável processo inflamatório-infeccioso de partes moles com envolvimento ósseo. Completou 14 dias de clindamicina e 7 dias de gentamicina intravenosa, hemocultura negativa. Persiste com edema, irritabilidade e dor. Após 21 dias, o quadro clínico-imagem foi reavaliado e considerada doença de Caffey. O antiinflamatório começa com uma boa evolução. Conclusões: A doença de Caffey é uma colagenopatia rara que afeta lactentes. O diagnóstico é clínico-radiológico (irritabilidade, edema de partes moles e alterações radiológicas). O prognóstico a longo prazo é geralmente favorável. É importante considerar o diagnóstico em lactentes que apresentam esses sintomas para evitar atrasos no diagnóstico e início de tratamentos desnecessários.

Radiological Evaluation of Volar Cortical Angle in the Anatolian Population / Evaluación Radiológica del Ángulo Cortical Volar en la Población Anatoliana

SUMMARY: Distal radius fractures are the most common fractures of the upper limb. The most commonly used method in the repair of these fractures is volar locking plates. Recently, the frequency of removal of volar locking plates after surgery has increased. There are many factors in its reduction. Anatomically, incompatibility of the distal end of the radius with volar locking plates is one of them. In previous studies, different volar cortical angle (VCA) values were found in other races. For this reason, this study aimed to determine the mean values by making VCA measurements of the Anatolian population. The study was designed retrospectively. In the study, measurements were made on computed tomography (CT) images of the distal end of the radius of 53 men and 28 women. Radial width, intermediate volar angle, and radial volar angle were measured in the images. On average, the radius width was 23.35±1.96 mm, and the intermediate volar angle was 26.02±.3.83°, radial volar angle was 24±3.07°. Radial width, intermediate volar angle, and radial volar angle differed significantly by gender (p<0.001). A significant correlation was found between radius width, intermediate volar angle, and radial volar angle values (p<0.001). It has been determined that the Anatolian population has a different VCA value than the European, Asian, and other populations. When using volar locking plates in distal radius fracture surgery, volar locking plates should be selected by considering the average values of the races.

Las fracturas del radio distal son las fracturas más comunes del miembro superior. El método más utilizado en la reparación de estas fracturas son las placas de bloqueo volar. Recientemente, ha aumentado la frecuencia de extracción de placas de bloqueo volar después de la cirugía. Existen muchos factores en su reducción y anatómicamente, la incompatibilidad de la extremidad distal del radio con las placas de bloqueo volar es una de ellas. En estudios anteriores, se encontraron diferentes valores del ángulo cortical volar (VCA) en otras grupos. Por esta razón, este estudio tuvo como objetivo determinar los valores medios, realizando mediciones de VCA de la población de Anatolia. El estudio fue diseñado de manera retrospectiva. En el estudio, se realizaron mediciones en imágenes de tomografía computarizada (TC) de la extremidad distal del radio de 53 hombres y 28 mujeres. En las imágenes se midieron el ancho radial, el ángulo volar intermedio y el ángulo volar radial. En promedio, el ancho del radio fue de 23,35 ± 1,96 mm, el ángulo volar intermedio fue de 26,02 ± 3,83° y el ángulo volar radial fue de 24 ± 3,07°. El ancho radial, el ángulo volar intermedio y el ángulo volar radial difirieron significativamente según el sexo (p<0,001). Se encontró una correlación significativa entre los valores del ancho del radio, el ángulo volar intermedio y el ángulo volar radial (p<0,001). Se ha determinado que la población de Anatolia tiene un valor de VCA diferente al de las poblaciones europeas, asiáticas y otras. Cuando se utilizan placas de bloqueo volar en cirugía de fractura de la extremidad distal del radio, las placas deben seleccionarse considerando los valores promedio de los individuos de diferentes grupos.

Reconstrucción mandibular con cortical autóloga auto trasplantada del sitio quirúrgico en queratoquiste, revisión de literatura y reporte de caso / Mandibular reconstruction with autologous cortical bone transplanted from the surgical site in keratocyst, literature review, and case report

El queratoquiste es un quiste odontogénico en el cual se describen diferentes opciones terapéuticas tanto conservadores como agresivas, con diferentes tasas de éxito y recidivas. Dependiendo del tratamiento, las técnicas más agresivas presentan mejores resultados, pero involucran un mayor defecto óseo en la zona tratada versus las técnicas conservadoras. El propósito de este reporte de caso es documentar una técnica quirúrgica utilizada en un paciente masculino de 17 años que, tras un tratamiento descompresivo de 8 meses, fue sometido a cirugía con enucleación de la lesión remanente más curetaje mecánico perilesional y uso de solución de Carnoy no modificada, preservando la cortical ósea vestibular mandibular tratada con solución de Carnoy no modificada y reposicionando este segmento óseo mediante osteosíntesis. Se realizó seguimiento clínico e imagenológico postoperatorio de 1 año verificando la remisión del quiste y la neoformación ósea en la zona intervenida. El uso de esta alternativa terapéutica permite evitar el colapso de los tejidos blandos en el defecto óseo subyacente y aportar tejido óseo autógeno tratado que permite una funcionalidad de tramado óseo al cual pueden migrar los elementos celulares para aportar en la regeneración tisular local.

The keratocyst is an odontogenic cyst in which different conservative and aggressive therapeutic options are described, with different success rates and recurrences. Depending on the treatment, the most aggressive techniques present better results but involve a more significant bone defect in the treated area compared to conservative techniques. The purpose of this case report is to document a surgical technique used in a 17-year-old male patient who underwent surgery after eight months of decompressive treatment with enucleation of the remaining lesion plus perilesional mechanical curettage and use of Carnoy's solution unmodified, preserving the mandibular vestibular bone cortex treated with unmodified Carnoy's solution and repositioning this bone segment by osteosynthesis. A one-year postoperative clinical and imaging follow-up was carried out, verifying the remission of the cyst and the new bone formation in the operated area. This therapeutic alternative makes possible to avoid the collapse of the soft tissues in the underlying bone defect and provide treated autogenous bone tissue that allows a bone mesh functionality to which the cellular elements can migrate to contribute to local tissue regeneration.

Historia y principios básicos de la estimulación magnética transcraneal

La estimulación magnética transcraneal (EMT) es una técnica no invasiva que consiste en la utilización de campos magnéticos para estimular a las neuronas de la corteza cerebral. Si bien la electricidad se ha pretendido emplear previamente en el campo de la medicina, la historia de la EMT se remonta al descubrimiento de la inducción electromagnética, por Faraday, en el siglo XIX. Sin embargo, no fue hasta la década de 1980 cuando Anthony Barker, en la Universidad de Sheffield, desarrolló el primer dispositivo de EMT. La EMT funciona mediante una bobina colocada en el cuero cabelludo, la cual produce un campo magnético que puede atravesar el cráneo y estimular las neuronas corticales. La intensidad y la frecuencia del campo magnético pueden ajustarse para dirigirse a zonas específicas del cerebro y producir efectos excitatorios e inhibitorios. Los principios de la EMT se basan en el concepto de neuroplasticidad, que se refiere a la capacidad del cerebro para cambiar y adaptarse en respuesta a nuevas experiencias y estímulos. Al estimular las neuronas del cerebro con la EMT, es posible inducir cambios en la actividad neuronal y la conectividad, lo que a su vez puede provocar cambios cognitivos y en el estado de ánimo.

Transcranial magnetic stimulation (TMS) is a noninvasive technique that uses magnetic fields to stimulate neurons in the cerebral cortex. While electricity has previously been intended to be used in the medical field, the history of TMS dates back to the discovery of electromagnetic induction by Faraday in the 19th century. However, it was not until the 1980s when Anthony Barker developed the first TMS device at the University of Sheffield. TMS works by means of a coil placed against the scalp, thereby producing a magnetic field. This magnetic field can pass through the skull and stimulate cortical neurons. The intensity and frequency of the magnetic field can be adjusted to target specific areas of the brain and produce excitatory and inhibitory effects. The principles of TMS are based on the concept of neuroplasticity, which refers to the brain's ability to change and adapt in response to new experiences and stimuli. By stimulating neurons in the brain with TMS, it is possible to cause changes in neuronal activity and connectivity, which in turn can lead to cognitive and mood changes.

Desde el análisis biomecánico óseo de koch hasta el manejo contemporáneo de la fractura del fémur proximal / From koch's bone biomechanical analysis to contemporary proximal femur fracture management

Este artículo representa una revisión actual y completa de las fuerzas biomecánicas en el fémur proximal, tal como Koch presentó preliminarmente en su trabajo sobre la arquitectura ósea del fémur proximal. Su trabajo reflejó en la complejidad de las fracturas de fémur proximal y el manejo de las fracturas subtrocantéricas en paralelo con su clasificación y con la evolución de implantes. Existen múltiples formas de clasificar las fracturas subtrocantéricas; sin embargo, no existe un sistema de clasificación que se utilice para guiar el manejo quirúrgico. El tratamiento de las fracturas subtrocantéricas es la fijación quirúrgica, que implica el enclavado endomedular y placas de osteosíntesis. El tratamiento estándar es el enclavado endomedular con opciones de enclavado anterógrado y retrógrado. Aunque el enclavado anterógrado presenta una ventaja debido a las fuerzas deformantes, el enclavado retrógrado de las fracturas de fémur proximal ofrece menos tiempo quirúrgico y pérdida de sangre. Se han informado resultados similares entre los dos métodos. La toma de decisiones cuando se contempla el enclavado anterógrado versus retrógrado para las fracturas de fémur se basa principalmente en la constitución corporal y las lesiones asociadas, y no en la distancia de la fractura del fémur proximal a la región trocantérica

This article presents a current and comprehensive review of the biomechanical forces on the proximal femur, as preliminarily presented by Koch's cornerstone work on the bone architecture of the proximal femur. His work reflected on the complexity of proximal femur fractures and subtrochanteric fracture management in parallel with implant evolution and classification. Multiple ways of classifying subtrochanteric fractures exist, however, there is not one classification system that is used to guide operative management. The management of subtrochanteric fractures is surgical fixation which involves intramedullary nailing and plating (e.g., fixed angle and locking). The gold standard management is intramedullary nailing with antegrade and retrograde nail options. Though antegrade nailing presents an advantage due to the deforming forces, retrograde nailing of proximal femur fractures offers less operative time and blood loss. Similar outcomes have been reported between the two methods. Decision making when contemplating antegrade versus retrograde nailing for femur fractures is mostly driven by body habitus and associated injuries, and not by fracture distance of the proximal femur to the trochanteric region

Síndrome de Anton-Babinsky / Anton-Babinski Syndrome

Introducción: El síndrome de Anton-Babinsky es un trastorno neuropsiquiátrico poco frecuente, que se manifiesta por anosognosia y ceguera cortical, debido a lesiones en las áreas visuales asociativas de la corteza occipital sin presentar afectación en la vía visual. En adultos mayores sus manifestaciones clínicas suelen ser atípicas y la valoración geriátrica integral permite orientar el diagnóstico, que se puede asociar con síndromes geriátricos. Objetivo: Describir las manifestaciones clínicas, síndromes geriátricos, paraclínicos y tratamiento de un paciente con Síndrome de Anton-Babinsky. Caso clínico: Paciente de 85 años, quien durante un postoperatorio inmediato de cirugía ocular (pterigión) presentó alteración fluctuante del estado de conciencia, alucinaciones visuales, disminución de la agudeza visual bilateral y anosognosia. La analítica sanguínea no reportó alteraciones y la tomografía computarizada de cráneo documentó isquemia occipital bilateral, se le diagnosticó síndrome de Anton-Babinsky. Conclusiones: El síndrome de Anton-Babinsky puede tener presentación atípica a través de síndromes geriátricos. La valoración geriátrica integral permite realizar un diagnóstico y manejo multicomponente oportuno con el objetivo de influir en el pronóstico tanto a corto como a largo plazo(AU)

Introduction: Anton-Babinski syndrome is a rare neuropsychiatric disorder, with a manifestation of anosognosia and cortical blindness, due to lesions in the associative visual areas of the occipital cortex without presenting visual pathway impairment. In elderly adults, its clinical manifestations are usually atypical and a comprehensive geriatric assessment allows to guide the diagnosis, which can be associated with geriatric syndromes. Objective: To describe the clinical manifestations, geriatric syndromes, paraclinical findings and treatment of a patient with Anton-Babinski syndrome. Clinical case: This is the case of an 85-year-old patient who, during the immediate postoperative period after ocular surgery (pterygium), presented a fluctuating alteration of consciousness, visual hallucinations, decreased bilateral visual acuity and anosognosia. Blood analysis reported no alterations and cranial computed tomography documented bilateral occipital ischemia; the patient was diagnosed with Anton-Babinski syndrome. Conclusions: Anton-Babinski syndrome may have an atypical presentation through geriatric syndromes. Comprehensive geriatric assessment allows for timely multicomponent diagnosis and management with the aim of influencing both short- and long-term prognosis(AU)

Unicystic Ameloblastoma ? A Case Series

Ameloblastoma is a benign, locally aggressive neoplasm that constitutes about 1–3% of the tumors of the jaw. Wide surgical excision with adequate safe margin is the most common treatment of choice. The study aimed to manage cases with unicystic ameloblastoma while preserving the continuity of the mandible (without resection). This article presents a series of cases ranging from 18 to 40 years old patients of both sexes with unicystic ameloblastoma, especially in the mandible showing more male predilection than female. All the cases presented in this article were treated by enucleation and curettage. None of the patients presented post?operative paresthesia. None of the cases went in for resection. Post?operative recovery was uneventful in all the patients. All the patients were followed up for a period of 3.5–5 years. None of the cases reported recurrence at the date of publication.

Amyloid spell – A close mimic of transient ischemic attack!

Transient focal neurological episodes, also called amyloid spells occur as recurrent, transient episodes of spreading paresthesia seen in 14% of cerebral amyloid angiopathy (CAA) patients. An 81-year-old gentleman with coronary artery disease and a left ventricular clot was on anticoagulant treatment. He presented with three episodes of tingling in the left fingers spreading to the left arm and left leg, each lasting for 10 min. Magnetic resonance imaging of the brain with susceptibility imaging showed convexity hemorrhage, and curvilinear blooming in sulcal spaces of the right cerebral convexity and left precuneus. Warfarin was stopped. He was treated with clobazam, aspirin, and atorvastatin. He improved, so was discharged after 2 days. Amyloid spells can be confused with transient ischemic attack (TIA) or its mimics and the treatment given for TIA can lead to intracranial hemorrhage in CAA patients. Radiological features aid in the diagnosis of CAA and antiplatelets need to be administered cautiously in patients with suspected TIA.

Cortical thickness is related to working memory performance after non-invasive brain stimulation

Non-invasive brain stimulation (NIBS) probing the dorsolateral prefrontal cortex (DLPFC) has been shown to have little effect on working memory. The variability of NIBS responses might be explained by inter-subject brain anatomical variability. We investigated whether baseline cortical brain thickness of regions of interest was associated with working memory performance after NIBS by performing a secondary analysis of previously published research. Structural magnetic resonance imaging data were analyzed from healthy subjects who received transcranial direct current stimulation (tDCS), intermittent theta-burst stimulation (iTBS), and placebo. Twenty-two participants were randomly assigned to receive all the interventions in a random order. The working memory task was conducted after the end of each NIBS session. Regions of interest were the bilateral DLPFC, medial prefrontal cortex, and posterior cingulate cortex. Overall, 66 NIBS sessions were performed. Findings revealed a negative significant association between cortical thickness of the bilateral dorsolateral prefrontal cortex and reaction time for both tDCS (left: P=0.045, right: P=0.037) and iTBS (left: P=0.007, right: P=0.007) compared to placebo. A significant positive association was found for iTBS and posterior cingulate cortex (P=0.03). No association was found for accuracy. Our findings provide the first evidence that individual cortical thickness of healthy subjects might be associated with working memory performance following different NIBS interventions. Therefore, cortical thickness could explain - to some extent - the heterogeneous effects of NIBS probing the DLPFC.

Radiographic findings in the coxofemoral joint of Australian Cattle Dogs / Achados radiográficos em articulação coxofemoral de cães da raça Australian Cattle Dog

Australian Cattle Dogs (ACD) are medium-sized animals widely used in fieldwork for managing cattle and sheep. There needs to be more information about the conditions these dogs can develop despite being well-characterized animals since the beginning of the 20th century. Hip dysplasia (HD) is a developmental abnormality between the femoral head and the acetabular fossa, which can be debilitating. However, the available literature has no studies on the prevalence of this condition in dogs of this breed. This study aimed to evaluate radiographs of ACD qualitatively and quantitatively. For this purpose, 49 dogs considered healthy without clinical signs of HD were radiographically assessed, and the animals were classified as dysplastic (D) and non-dysplastic (ND). A frequency of 46.9% of dysplastic dogs was observed, with males being more affected. The cortical index (CI) and angle of inclination (AI) could not differentiate D from ND animals; only the Norberg angle (NA) was effective in this differentiation. No correlation was observed between AI, CI, and AN.(AU)

Os cães da raça Autralian Cattle Dog (ACD) são animais de porte médio, muito utilizados no trabalho de campo para manejo de gado e ovelha. Apesar de serem animais bem caracterizados desde o início do século XX, há poucas informações sobre afecções que esses cães podem desenvolver. A displasia coxofemoral (DCF) é uma anormalidade do desenvolvimento entre a cabeça do fêmur e a fossa acetabular podendo ser debilitante. Contudo, não há estudos, na literatura disponível, sobre a prevalência desta afecção em cães dessa raça. O objetivo deste trabalho foi avaliar qualitativamente e quantitativamente radiografias de cães da raça ACD. Para tanto, foram avaliados radiograficamente 49 cães considerados hígidos e sem sinais clínicos de DCF. Os animais foram classificados em displásicos (D) e não displásicos (ND). Observou-se a frequência de 46,9% de cães displásicos, sendo os machos mais acometidos. O índice cortical (IC) e o ângulo de inclinação (AI) não foram capazes de diferenciar os animais D dos ND, apenas o ângulo de Norberg (AN) foi eficaz nessa diferenciação. Não houve correlação entre AI, IC e AN.(AU)

Focal Cortical Dysplasia with hippocampal sclerosis

ABSTRACT Focal Cortical Dysplasia (FCD) is a group of focal developmental malformations of the cerebral cortex cytoarchitecture. FCD usually manifests as medically intractable epilepsy, especially in young children. Live patients are diagnosed by radiological examination such as magnetic resonance imaging (MRI), fluorodeoxyglucose positron emission tomography (FDG PET), magnetoencephalography (MEG), diffusion-tensor imaging (DTI), and intracranial electroencephalogram (EEG). While some cases can be missed by radiological examination, they are usually diagnosed on the histopathological examination of the surgically removed specimens of medically intractable epilepsy patients. We report a case of a young girl with cerebral palsy, mental retardation, and seizure disorder who died in her sleep. The deceased was diagnosed with FCD type III with hippocampal sclerosis on histopathological examination at autopsy. H & E stain and NeuN immunohistochemistry neuronal cell marker were used to demonstrate the findings of FCD.

Contextual Fear Learning and Extinction in the Primary Visual Cortex of Mice / 神经科学通报·英文版

Fear memory contextualization is critical for selecting adaptive behavior to survive. Contextual fear conditioning (CFC) is a classical model for elucidating related underlying neuronal circuits. The primary visual cortex (V1) is the primary cortical region for contextual visual inputs, but its role in CFC is poorly understood. Here, our experiments demonstrated that bilateral inactivation of V1 in mice impaired CFC retrieval, and both CFC learning and extinction increased the turnover rate of axonal boutons in V1. The frequency of neuronal Ca2+ activity decreased after CFC learning, while CFC extinction reversed the decrease and raised it to the naïve level. Contrary to control mice, the frequency of neuronal Ca2+ activity increased after CFC learning in microglia-depleted mice and was maintained after CFC extinction, indicating that microglial depletion alters CFC learning and the frequency response pattern of extinction-induced Ca2+ activity. These findings reveal a critical role of microglia in neocortical information processing in V1, and suggest potential approaches for cellular-based manipulation of acquired fear memory.

Prenatal ultrasonographic characteristics of fetal cortical dysplasia during second trimester / 中华超声影像学杂志

Objective:To analyze the fetal ultrasonographic features of malformation of cortical development (MCD) during the second trimester, and explore and summarize the relevant diagnostic clues, so as to improve the ability of diagnosis and differential diagnosis of fetal MCD.Methods:A total of 313 fetuses with brain abnormalities suspected on ultrasound in Chengdu Women′s and Children′s Central Hospital from April 2018 to August 2022 were retrospectively analyzed. The fetuses were examined using MRI. The ultrasonographic characteristics of fetal MCD were summarized, and the fetal ultrasound and MRI imaging data were compared for fetal MCD.Results:Nineteen fetuses were diagnosed with MCD from 313 fetuses(6.07%, 19/313). Seventeen cases of MCD were identified by ultrasonography and subsequently validated by fetal MRI, including 6 cases of schizencephaly, 2 cases of hemimegalencephaly(HMEG), 3 cases of periventricular nodular heterotopia(PVNH), 3 cases of lissencephaly, 2 cases of microcephaly and 1 case of polymicrogyria(PMG). There were 3 cases with two concurrent MCD, 1 case of HMEG, and MRI increased the diagnosis of left parietal PMG; 1 case of lissencephaly, and MRI increased the diagnosis of PVNH. The other case was PMG, and MRI increased the diagnosis of lissencephaly. Two cases of fetal MCD were not indicated by ultrasonography, one of which was diagnosed as tuberous sclerosis and another one as schizencephaly by MRI, both due to ventriculomegaly.Conclusions:Various types of MCD in the second trimester have ultrasonographic characteristics. Abnormal lateral ventricles, intracranial structural changes such as sulci and gyrus can provide reliable ultrasound diagnostic clues for fetal MCD.

Prenatal imaging classification and potential diseases of fetal abnormal sylvian fissure / 中华超声影像学杂志

Objective:To assess the ultrasonographic features and potential diseases of fetal abnormal sylvian fissure(SF), and to explore the value of whole-genome sequencing (WGS) in prenatal detection.Methods:A total of 28 fetuses with a sonographic diagnosis of abnormal SF in Shenzhen Maternal and Child Health Hospital Affiliated to Southern Medical University between October 2018 and October 2020 were prospectively included. The fetal brain was evaluated by neuroultrasound and intrauterine MRI in detail. Amniotic fluid/cord blood obtained by amniocentesis or tissue samples from umbilical cord after birth were collected for WGS. Pregnancy outcomes and postnatal MRI were recorded, and neurodevelopment of live-born infants was followed up for more than 24 months after delivery.Results:During the study period, 28 fetuses with abnormal SF were identified, with a gestational age of 21.3-30.0 (24.8±2.0) weeks. Abnormal SF presented in MCD ( n=15, 53.6%), chromosomal anomalies ( n=3, 10.7%) or single-gene genetic syndromes ( n=3, 10.7%) with the affected fetuses showing developmental delay, hydrocephalus or leukomalacia ( n=4, 14.2%), corpus callosal agenesis with large interhemispheric cysts ( n=1, 3.6%), benign subarachnoid space enlargement with arachnoid cysts ( n=1, 3.6%), and multiple malformations ( n=1, 3.6%). Among the 15 cases with MCD, the most common pathology was lissencephaly/pachygyria, followed by schizencephaly, severe microcephaly, hemimegalencephaly with paraventricular heterotopia, and polymicrogyria. Abnormal SF presented bilaterally in 23 fetuses and unilaterally in 5. All cases were categorized into six types depending on SF morphology in the transthalamic section: no plateau-like or a small insula, linear type, irregular corrugated SF, Z-shaped, and cyst occupying type. In addition to abnormal SF, associated anomalies or mild variations were identified in all fetuses. There were 17 cases underwent intrauterine MRI, and 13 cases underwent postnatal MRI examination.And 25 pregnancies were terminated; 3 were born alive, and 2 had typical syndromic changes with poor neurodevelopmental prognosis. A related pathogenic genetic variant was detected in 57.1% (16/28) fetus, and the incidence of single nucleotide variants(SNVs) was 42.9% (12/28), among which de novo SNVs accounted for 91.7% (11/12). Conclusions:Fetal abnormal SF could be classified based on the ultrasonographic features of transthalamic section. Fetal abnormal SF may indicate MCD, some chromosomal abnormalities or single-gene genetic syndromes that may lead to poor neurodevelopmental outcomes, and may be affected by extra-cortical factors. It is suggested to carry out targeted prenatal genetic diagnosis for fetuses with abnormal SF.

Feasibility of using cortical bone trajectory screws in osteoporotic thoracolumbar fixation based on evaluation of bone CT values at bone-screw interface / 中华创伤骨科杂志

Objective:To evaluate the feasibility of using cortical bone trajectory (CBT) screws in the osteoporotic thoracolumbar fixation by comparing the bone CT values at the bone-screw interface between traditional trajectory (TT) screws and CBT screws in patients with different bone densities.Methods:The high-resolution CT imaging data of thoracolumbar segments following thoracic or lumbar spine fractures from April 2020 to October 2022 were collected at The Second Hospital Affiliated to Wenzhou Medical University for retrospective analysis. They were divided into 3 groups: a normal bone mass group, an osteopenia group and an osteoporosis group. From each group 30 cases were chosen (90 cases in total, 36 males and 54 females). All the data were imported into Mimics 18.0 for three-dimensional bone reconstruction in which placement of TT and CBT screws was simulated on the vertebrae from T10 to L2 (non-fractured vertebrae). Regions of interest (ROI) where each simulated screw intersected the bone were segmented to measure their CT bone values. For each vertebra in each group, the relative difference percentage in average CT value of ROI between TT and CBT screws was calculated. The CT values of ROI were compared in the same group between TT and CBT screws from T10 to L2; the CT values of ROI were compared in the same screws among the 3 groups from T10 to L2; the CT values of ROI were compared between the CBT screws in the osteopenia and osteoporosis groups and the TT screws in the normal bone mass group; the relative difference percentages in average CT value of ROI between CBT and TT screws were compared between the 3 groups from T10 to L2.Results:The average CT value of ROI for CBT screws was significantly higher than that for TT screws from T10 to L2 in every group ( P< 0.001); as for the CT values of ROI for CBT and TT screws from T10 to L2, the osteoporosis group<the osteopenia group<the normal bone mass group ( P<0.001); from T10 to L2, the CT value of ROI for CBT screws in the osteopenia group was significantly higher than that for TT screws in the normal bone mass group ( P<0.001); the CT value of ROI for CBT screws in the osteoporosis group was not significantly different from that for TT screws in the normal bone mass group ( P>0.05). At T10, T12, and L1, the relative difference percentage in average CT value of ROI between CBT and TT screws was significantly higher in the osteopenia and osteoporosis groups than that in the normal bone mass group ( P<0.05), but there was no such a difference between the osteopenia and the osteoporosis groups ( P>0.05). At T11 and L2, there was no significant difference between the 3 groups in the relative difference percentage in average CT value of ROI between CBT and TT screws ( P>0.05). Conclusions:As bone mass decreases, both CBT and TT screws lead to a significant decrease in the bone density at the bone-screw interface. In patients with osteoporosis, CBT screws can still lead to a higher bone density at the bone-screw interface than TT screws, thus providing a higher strength at the bone-screw interface.

Abnormal topology of cortical thickness covariance network and altered functional connectivity in patients with anti-N-methyl-D-aspartate receptor encephalitis / 中华行为医学与脑科学杂志

Objective:To explore the changes in topological attributes of structural covariance network based on cortical thickness and the brain functional activities in patients with anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis by graph theory and functional connectivity (FC) analyses, and to investigate whether these changes were correlated to cognitive impairment.Methods:A total of 33 patients with anti-NMDAR encephalitis from Department of Neurology of the First Affiliated Hospital of Guangxi Medical University(patient group) and 35 healthy controls(control group) with matched gender, age, and education were included from July 2018 to November 2021.All subjects received cognitive function assessments, structural and functional magnetic resonance imaging scans.Structural covariance networks were constructed in the two groups based on cortical thickness values and topological characteristics of networks were computed.A non-parametric permutation test which repeated 1 000 times was used to compare the characteristics of the networks between the two groups.Brain regions with abnormal topology were defined as region of interest(ROI), and FC values in global brain level were calculated.SPM 12 and RESTplus were used to identify the brain regions with significant differences in FC values between the two groups.Finally, Spearman correlation analysis between FC values of significant brain regions and cognitive scores were performed by SPSS 24.0.Results:The cognitive score of patients with anti-NMDAR encephalitis (27.0(23.5, 28.0)) was lower than that in control group(29.0(27.0, 30.0)) ( Z=-3.029, P=0.002). Graph theory analysis found that the patients showed significantly increased clustering coefficients ( P=0.004) and decreased global efficiency ( P=0.004) compared with healthy controls.Moreover, the nodal efficiency of left ventral posterior cingulate cortex (vPCC) and right dorsal posterior cingulate cortex (dPCC), as well as the nodal degree centrality of left vPCC and left polar planum of superior temporal gyrus (ppSTG) in patient group were significantly decreased ( P<0.05, FDR corrected) compared with control group.FC analysis showed the increased FC values between left vPCC and posterior cerebellum (MNI: x=6, y=-66, z=-21), as well as between left ppSTG and anterior cerebellum (MNI: x=6, y=-54, z=-12) (GRF corrected, voxel level P<0.001, cluster level P<0.05) in patient grooup.The FC values between left vPCC and posterior cerebellum were negatively correlated with the cognitive scores ( r=-0.403, P=0.020). Conclusion:Patients with anti-NMDAR encephalitis show abnormal topology of structural covariance network based on cortical thickness and altered FC values, some of which are correlated to cognition and may be the underlying neural mechanism of cognitive impairment in patients with anti-NMDAR encephalitis.

MRI cortical thickness of bulbar region and impacts on survival in amyotrophic lateral sclerosis patients / 西安交通大学学报(医学版)

【Objective】 To investigate cortical thickness changes in the face-head region of the primary motor cortex (PMC) and its effect on survival in amyotrophy lateral sclerosis (ALS) patients. 【Methods】 A retrospective analysis was performed on 105 ALS patients who underwent head MRI scan at the same time. The A4hf (face-head) region of PMC was used as the region of interest (ROI). According to clinical symptoms, patients were divided into two groups: bulbar involvement and non-bulbar involvement. The differences of clinical features and cortical thickness in ROI were analyzed. According to the symptoms of bulbar palsy, physical examination of nervous system and EMG of tongue muscle, the patients with bulbar palsy were divided into lower motor neuron (LMN), upper motor neuron (UMN) and LMN+UMN groups. The differences of bulbar subgroup score and ROI of cortical thickness were analyzed. Age at onset, body mass index, delayed time of diagnosis, bulbar subgroup score, and ROI cortical thickness were included in survival analysis. 【Results】 ① The ROI cortical thickness was significantly lower in bulbar involvement group than non-bulbar involvement group (-0.198±0.87 vs. 0.235±0.95, P=0.017). ② There were no significant differences in the bulbar subgroup scores or cortical thickness of ROI between LMN, UMN and LMN+UMN groups (P>0.05). ③ Survival analysis showed age of onset (HR=3.296, 95% CI:1.63-6.664, P=0.001), delayed time of diagnosis (HR=0.361, 95% CI:0.184-0.705, P=0.003), bulbar subgroup score (HR 0.389, 95% CI:0.174-0.868, P=0.021), and ZRE_ROI cortical thickness (HR=2.309, 95% CI:1.046-5.096, P=0.038) were independent influencing factors of ALS survival. 【Conclusion】 Cortical thickness in A4hf (face-head) region can more objectively reflect UMN signs of region bulbar. In addition to age of onset and delayed time of diagnosis, bulbar subgroup score and cortical thickness of face-head region are also independent influencing factors, and cortical thinning in face-head region is a protective factor for survival of ALS patients.

Characteristics of cortical activation in older adults under cognition-balance dual tasks / 中国康复理论与实践

ObjectiveTo explore the characteristics of balance and cortical activation in older adults when performing cognition-balance dual tasks. MethodsFrom January to April, 2023, 20 healthy older adults were non-targeted recruited. They completed six tasks of close eyes & fixed platform (CF), close eyes & fixed platform & cognitive task (CFc), open eyes & sway-referenced platform (OS), open eyes & sway-referenced platform & cognitive task (OSc), close eyes & sway-referenced platform (CS), and close eyes & sway-referenced platform & cognitive task (CSc) on the Balance SD, wearing functional near-infrared spectroscopy caps. The overal stability index (OSI) was measured with Balance SD. The premotor cortex (PMC), sensorimotor cortex (SMC) and prefrontal cortex (PFC) were as regions of interest (ROIs), and the β values were calculated. ResultsThe OSI was more as CFc than as CF (Z = -2.014, P < 0.05), and was less as CSc than as CS (Z = -2.063, P < 0.05). The β values of bilateral ROIs were all more as CFc than as CF (|Z| > 2.464, |t| > 3.733, P < 0.05), and as OSc than as OS (|t| > 2.308, P < 0.05); the β value of the right SMC was more as CSc than as CS (t = -2.912, P < 0.05). The number of correct counts was less as CSc than as CFc and OSc (|Z| > 3.643, P < 0.001). ConclusionBalance has been impaired under dual tasks for older adults, while activation of cerebral cortex increases. However, for more difficult balance task, older adults would preferentially maintain postural balance under dual tasks, while cognitive performance decreases, which may be the results from no more activation of cerebral cortex under dual tasks.

Prenatal diagnosis of abnormal morphology of Sylvian fissure and malformations of cortical development / 中华围产医学杂志

Objective:To investigate the significance of abnormal morphology of Sylvian fissure detected by fetal neurosonogram (NSG) in prenatal diagnosis of malformations of cortical development (MCD).Methods:This retrospective study involved fetuses with abnormal morphology of Sylvian fissure on prenatal NSG in Peking University First Hospital between January 2016 and December 2021. Clinical data including the basic information as well as the results of NSG, genetic examinations and MRI were collected. The diagnosis of MCD could be made when both brain morphological abnormalities and pathogenic/likely pathogenic genetic abnormalities were presented. The association between the abnormal morphology of Sylvian fissure and MCD was analyzed by descriptive analysis.Results:Thirteen participants who had complete genetic information were included in this study [defined as those who were found with pathogenic/likely pathogenic copy number variation (CNV) or those who further underwent whole-exome sequencing (WES) as no pathogenic/likely pathogenic CNV were detected]. Twelve fetuses (12/13) were eventually diagnosed with MCD. Pathogenic CNV were found in seven fetuses and pathogenic point mutations in five, involving six pathogenic genes and four genetic syndromes. Symmetric morphologic abnormality of Sylvian fissure was detected in 10 cases by prenatal NSG with shallow and broad shape in six and abnormal angle of Sylvian fissure in four. The other two fetuses showed asymmetric abnormal morphology of Sylvian fissure that was shallow and broad shape on one side and abnormal angle on the other. The imaging features of MCD present by prenatal NSG and were consistent with those of MRI.Conclusions:Abnormal morphology of Sylvian fissure detected by prenatal NSG is important in MCD diagnosis. Genetic examination are recommended to the fetuses with abnormal morphology of Sylvian fissure. For those requiring for genetic analysis, chromosomal microarray analysis together with WES might be an optimal choice.

Research progress of ultra-high field strength 7.0 T magnetic resonance imaging in multiple sclerosis / 中华神经科杂志

Multiple sclerosis (MS) is one of the demyelinating diseases of the central nervous system, and its pathogenesis is still unclear. Magnetic resonance imaging (MRI) is an effective tool for the diagnosis and monitoring of MS, and the identification of MS lesions is increasingly updated with the development of technology. In recent years, 7.0 T ultra-high field MRI has been widely used in MS. This review will make an overview of the research progress of 7.0 T ultra-high field MRI in MS in recent years.