Diagnóstico prenatal de quistes interhemisféricos asociados a agenesia del cuerpo calloso / Prenatal diagnosis of callosal agenesis with interhemispheric cyst

Introducción: Los quistes interhemisféricos asociados a agenesia del cuerpo calloso constituyen un grupo infrecuente y heterogéneo de anomalías del SNC. Objetivo: Reportar nuestra experiencia en quistes interhemisféricos asociados a agenesia del cuerpo calloso (QIH/ACC), haciendo énfasis en sus características en la neurosonografía (NSG), su comparación con la resonancia magnética (RM) y su evolución clínica posterior. Método: Se incluyeron todas las pacientes con QIH/ACC evaluadas desde el año 2008. En todos los casos se consignaron los datos clínicos, de NSG y de RM cuando se realizó. Se entrevistó telefónicamente a los padres. Resultados: Fueron seleccionados 9 casos con QIH/ACC. De ellos, 5 fueron quistes tipo 1, 3 tuvieron anomalías asociadas y en los 3 hubo una anomalía genética patogénica. Cuatro casos fueron quistes tipo 2, 3 de ellos con un patrón NSG sugerente de síndrome de Aicardi. Hubo una excelente correlación entre NSG y RM, ya fuera esta última realizada ante- o posnatal, particularmente con relación a las malformaciones del desarrollo cortical asociadas al QIH/ACC. Conclusiones: En comparación con la RM y el resultado final, hubo alta concordancia con lo diagnosticado en la NSG, en especial en cuanto a malformaciones del desarrollo cortical asociadas, lo que añade valor al método diagnóstico que ofrecemos a nuestra población consultante.

Background: Callosal agenesis associated with interhemispheric cysts correspond to a rare and heterogenous group of CNS anomalies. Objective: To report our experience in interhemispheric cysts associated with agenesis of the corpus callosum (QIH/ACC), emphasizing its characteristics in neurosonography (NSG), its comparison with magnetic resonance imaging (MRI) and its subsequent clinical evolution. Method: All patients with QIH/ACC evaluated since 2008 were included. In all cases, clinical, NSG and MRI data were recorded when performed. The parents were interviewed by telephone. Results: A total of 9 cases were selected with QIH/ACC. 5 cases were type 1 cysts, 3 of them had associated abnormalities and in all 3 there was a pathogenic genetic anomaly. 4 cases were type 2 cysts, 3 of them with an NSG pattern suggestive of Aicardi syndrome. There was an excellent correlation between NSG and MRI, either before or postnatally, particularly in relation to cortical developmental malformations associated with QIH/ACC. Conclusions: Compared to MRI and the final result, there was high agreement with what was diagnosed in NSG, especially in what corresponds to associated cortical developmental malformations, which adds value to the diagnostic method we offer to our consulting population.

Metronidazole: A culprit to balance and speech

In a country like India, oral metronidazole is the commonly prescribed drug of choice for entities such as amebiasis and visceral abscesses. Oral such cases, it is usually well tolerated and safe but can cause serious neurological adverse events. Peripheral neuropathy commonly encounters in practice but central nervous system toxicity is also well documented as it crosses the blood–brain barrier easily. Neurological toxicity of metronidazole may be due to prolonged administration, high doses, or high cumulative doses. Magnetic resonance imaging (MRI) of brain is the modality of choice to evaluate brain involvement. In the brain, the splenium of the corpus callosum, dentate nucleus of the cerebellum, and posterior pons involvement are commonly seen and diagnostic. Here, we have an interesting case report of a patient who was on oral metronidazole treatment for his large liver abscess, presenting with a complaint of neurological symptoms of unsteady gait, vertigo, dysdiadochokinesia, and difficulty in speech. Moreover, thus suspected as metronidazole drug toxicity and further investigated for the same, and MRI typically shows cerebellar and posterior corpus callosal involvement

Ischemic Stroke in Dengue Fever: Unusual Complication of a Common Disease

Dengue fever is an arboviral infection, which is highly prevalent in tropical and subtropical climates. It is frequently associated with neurological complications but its association with ischemic stroke is ill defined. We present a case of an apparently healthy young male admitted with dengue fever complicated by ischemic infarct in corpus callosum. Our patient was managed conservatively, improved clinically and discharged in satisfactory condition.

Estimulación de nervio vago en epilepsia refractaria y callosotomía previa sin mejoría. Reporte de caso / Vagus nerve stimulation in refractory epilepsy and previous callosotomy without vimprovement. Case report / Estimulação do nervo vago em epilepsia refratária e calosotomia prévia sem melhora. Relato de caso

La epilepsia refractaria tanto generalizada como focal, es una patología sumamente incapacitante, para el tratamiento de la misma se ha establecido a la callosotomía desde hace décadas como primera línea quirúrgica para su control, la cual puede presentar efectos secundarios importantes como síndrome de desconexión y pérdida de memoria, sin embargo, existen pacientes que no responden a la callosotomía y necesitan nuevas líneas de tratamiento, buscando en la estimulación de nervio vago una respuesta a su condición. Descripción del caso de estudio. Se presenta el caso de paciente masculino de 24 años de edad con antecedente patológico de convulsiones tipo tónico clónicas generalizadas confirmadas por video electroencefalograma de 24 horas, de predominio nocturno de 13 años de evolución, es sometido a 2 regímenes farmacológicos antiepilépticos diferentes en un período de 7 años de duración, posteriormente diagnosticado con epilepsia refractaria, por lo que se realiza callosotomía sin control de su cuadro clínico, el mismo año se realiza estimulación de nervio vago, presentando resultados favorables en su evolución. Conclusión. Luego de evidenciar el presente caso de estudio se concluye que el tratamiento de epilepsia refractaria con la colocación de un estimulador de nervio vago izquierdo asociado a un correcto régimen FAE es una alternativa muy eficaz para considerar en estos pacientes.

Refractory epilepsy, both generalized and focal, is an extremely disabling pathology. For its treatment, callosotomy has been established for decades as the first surgical line for its control, which can present important side effects such as disconnection and loss syndrome. by heart, however, there are patients who do not respond to callosotomy and need new lines of treatment, looking for an answer to their condition in vagus nerve stimulation. Description of the case study. We present the case of a 24-year-old male patient with a pathological history of generalized tonic-clonic seizures confirmed by a 24-hour video electroencephalogram, predominantly nocturnal for 13 years, undergoing 2 different antiepileptic pharmacological mechanisms over a period of 7 years in duration, later diagnosed with refractory epilepsy, for which callosotomy was performed without control of its clinical picture, the same year vagus nerve stimulation was performed, presenting favorable results in its evolution. Conclution. After evidencing the present case study, it is concluded that the treatment of refractory epilepsy with the placement of a left vagus nerve stimulator associated with a correct AED regimen is a very effective alternative to consider in these patients.

A epilepsia refratária, tanto generalizada quanto focal, é uma patologia extremamente incapacitante. Para seu tratamento, a calosotomia se estabeleceu há décadas como a primeira linha cirúrgica para seu controle, que pode apresentar importantes efeitos colaterais como desconexão e síndrome de perda., há pacientes que não respondem à calosotomia e precisam de novas linhas de tratamento, buscando resposta para sua condição na estimulação do nervo vago. Descrição do estudo de caso. Apresentamos o caso de um doente do sexo masculino, 24 anos, com antecedentes patológicos de crises tónico-clónicas generalizadas confirmadas por videoeletroencefalograma de 24 horas, predominantemente nocturnas há 13 anos, submetido a 2 mecanismos farmacológicos antiepilépticos diferentes ao longo de 7 anos de duração, posteriormente diagnosticada com epilepsia refratária, para a qual foi realizada calosotomia sem controle de seu quadro clínico, no mesmo ano foi realizada estimulação do nervo vago, apresentando resultados favoráveis em sua evolução. Conclusão. Depois de evidenciar o presente estudo de caso, conclui-se que o tratamento da epilepsia refratária com a colocação de um estimulador de nervo vago esquerdo associado a um esquema correto de DEA é uma alternativa muito eficaz a ser considerada nesses pacientes.

Síndrome de Aicardi: revisión bibliográfica

Introducción: el síndrome de Aicardi (SA; OMIM #304050) es un trastorno genético raro, cuya incidencia es de aproximadamente 1/100.000. Fue descrito en 1965 como una triada consistente en agenesia del cuerpo calloso, lagunas coriorretinianas y espasmos infantiles. Asocia discapacidad intelectual severa y epilepsia de difícil control. Aunque su espectro clínico es variable, tiene por lo general un pronóstico infausto debido a la elevada morbimortalidad asociada. Se considera un trastorno esporádico causado por variantes patogénicas en heterocigosis de un gen ligado al cromosoma X, que causa mortalidad embrionaria en varones hemicigotos. Objetivo: este trabajo pretende llevar a cabo una revisión bibliográfica acerca de la literatura científica disponible del síndrome de Aicardi. De esta manera se hará una actualización sobre esta entidad en cuanto a definiciones, prevalencia e incidencia, etiología, espectro clínico y pronóstico de los pacientes afectos. Materiales y métodos: se lleva a cabo una búsqueda bibliográfica retrospectiva en las principales bases de datos científicas. Para ello, se utilizan las palabras clave "Aicardi", "agenesia del cuerpo calloso", "espasmos infantiles" y "encefalopatía epiléptica". Conclusiones: desde su descripción se ha ido ampliando el espectro de manifestaciones clínicas del síndrome. Actualmente no se conoce la existencia de un biomarcador que posibilite el diagnóstico, por lo que éste continúa siendo eminentemente clínico. Se debe tener un alto nivel de sospecha en espasmos infantiles de debut precoz en mujeres con alteraciones en neuroimagen.

Introduction: Aicardi syndrome (AS; OMIM #304050) is a rare genetic disorder, with an incidence of approximately 1/100,000. It was described in 1965 as a triad consisting of agenesis of the corpus callosum, chorioretinal lacunae, and infantile spasms. It is associated with severe intellectual disability and difficult-to-control epilepsy. Although its clinical spectrum is variable, it generally has a poor prognosis due to the associated morbidity and mortality. It is considered a sporadic disorder caused by heterozygous pathogenic variants of a gene linked to the X chromosome, which causes embryonic mortality in hemizygous males. Objective: this article performs a bibliographic review of the available scientific literature on Aicardi syndrome. In doing so, we hope to update the disorder's definitions, prevalence and incidence, etiology, clinical spectrum and prognosis of affected patients. Materials and methods: we performed a retrospective bibliographic search in the main scientific databases. For this, we searched for the keywords "Aicardi", "agenesia of the corpus callosum", "infantile spasms" and "epileptic encephalopathy". Conclusions: since it was first described, the spectrum of clinical manifestations of the syndrome has been expanding. Currently, there is no known biomarker that makes diagnosis possible, so it continues to be eminently clinical diagnosis. A high level of suspicion should be present in cases of early-onset infantile spasms in women with neuroimaging abnormalities.

The impact of multiple sclerosis on the size and morphology of corpus callosum: an MRI-based retrospective study / Impacto de la esclerosis múltiple en el tamaño y la morfología del cuerpo calloso: un estudio retrospectivo basado en resonancia magnética

SUMMARY: The corpus callosum (CC) includes the majority of fibers linking the two brain hemispheres. Several cross sectional studies showed an association between callosal atrophy and malfunction and neurodegenerative diseases, which may play a role in their pathological manifestations. As a result, the accurate quantification of the corpus callosum is important to have normative values according to sex, age and ethnicity. The purpose of this study is to determine the size of CC in patients suffering from multiple sclerosis, and compare it to CC size in healthyindividuals. Midsagittal size of CC were recorded prospectively from 404 routine MR brain examinations in normal individuals. The internal skull surface was measured to calculate CC/ internal skull surface ratio. Two groups of patients were studied: 200 (100 male /100 female) healthy individuals and 204 (101 males/103 females) with multiple sclerosis (MS). Mean surface area of CC in controls was 6.58±1.04 cm2 and there was no significant difference between males and females (P< 0.627). CC/ internal skull surface ratio was 4.44±0.77 %. MS patients showed a significant decrease in CC size compared to normal controls. Using MR imaging, we measured the mean sizes of the various portions of the CC in normal individuals, in addition to MS patients; these values may provide a useful basis to determine changes occurring in CC structures.

El cuerpo calloso (CC) incluye la mayoría de las fibras que unen los dos hemisferios cerebrales. Varios estudios transversales mostraron una asociación entre la atrofia y el mal funcionamiento calloso y las enfermedades neurodegenerativas, lo que puede desempeñar un papel en sus manifestaciones patológicas. En consecuencia, la cuantificación precisa del cuerpo calloso es importante para tener valores normativos según sexo, edad y etnia. El propósito de este estudio fue determinar el tamaño de CC en pacientes que padecen esclerosis múltiple y compararlo con el tamaño de CC en individuos sanos. El tamaño sagital medio del CC se registró prospectivamente a partir de 404 exámenes cerebrales de RM de rutina en individuos normales. Se midió la superficie interna del cráneo para calcular la relación CC/superficie interna del cráneo. Se estudiaron dos grupos de pacientes: 200 (100 hombres/100 mujeres) sanos y 204 (101 hombres/103 mujeres) con esclerosis múltiple (EM). El área superficial media de CC en los controles fue de 6,58±1,04 cm2 y no hubo diferencia significativa entre hombres y mujeres (P< 0,627). La relación CC/superficie interna del cráneo fue de 4,44±0,77 %. Los pacientes con EM mostraron una disminución significativa en el tamaño de CC en comparación con los controles normales. Usando imágenes de RM, medimos los tamaños medios de las diversas porciones del CC en individuos normales, además de pacientes con EM; estos valores pueden proporcionar una base útil para determinar los cambios que ocurren en las estructuras CC.

Detailed anatomy of the corpora-glans ligament via the P45 plastination method / Anatomía detallada de los ligamentos cuerpo cavernoso-glande mediante el método de plastinación P45

SUMMARY: The corporo-glans ligament is the ligament connecting the corpus cavernosum and the glans of the penis. The anatomical description of the corporo-glans ligaments shape is still uncertain, this knowledge affects penile reconstructive procedures. The anatomy of the corporo-glans ligament was analyzed and recorded via observing sagittal sections of 10 different penile P45 plastination sections. According to the P45 plastination sections, the corporo-glans junction displayed a fibrous tissue band connecting the distal ends of the two corpus cavernous (CC) with the glans penis (GP). The fibrous band was a round-obtuse shape and ran deep into the glans of the penis and occupied about 2/3 of the whole GP. The original end was laid in a socket embedded in the GP. The density of the fibers of the ligament at the original end close to the tunica albuginea was less than that of the other parts. The fibers originating from the tunica albuginea, directly extended to the blind end of the two CC, covering the distal end of the two CC.

El ligamento cuerpo cavernoso-glande es el ligamento que conecta el cuerpo cavernoso y el glande del pene. La descripción anatómica de la forma de los ligamentos cuerpo cavernoso -glande aún es incierta; este conocimiento afecta los procedimientos reconstructivos del pene. La anatomía del ligamento cuerpo cavernoso-glande se analizó y registró mediante la observación de 10 secciones sagitales diferentes del pene a través de plastinación P45. Según las secciones de plastinación, la unión cuerpo-glande mostraba una banda de tejido fibroso que conectaba los extremos distales de los dos cuerpos cavernosos con el glande del pene. La banda fibrosa tenía una forma redonda y obtusa y se adentraba profundamente en el glande del pene ocupando alrededor de 2/3 de él. En su origen se coloca en un espacio profundo en el glande del pene. La densidad de las fibras del ligamento cuerpo cavernoso-glande en su origen cercano a la túnica albugínea era menor que el de las otras partes. Las fibras que se originan en la túnica albugínea, se extienden directamente hasta el extremo ciego de los dos cuerpos cavernosos, cubriendo el extremo distal de estos.

Spatially resolved expression landscape and gene-regulatory network of human gastric corpus epithelium

Molecular knowledge of human gastric corpus epithelium remains incomplete. Here, by integrated analyses using single-cell RNA sequencing (scRNA-seq), spatial transcriptomics, and single-cell assay for transposase accessible chromatin sequencing (scATAC-seq) techniques, we uncovered the spatially resolved expression landscape and gene-regulatory network of human gastric corpus epithelium. Specifically, we identified a stem/progenitor cell population in the isthmus of human gastric corpus, where EGF and WNT signaling pathways were activated. Meanwhile, LGR4, but not LGR5, was responsible for the activation of WNT signaling pathway. Importantly, FABP5 and NME1 were identified and validated as crucial for both normal gastric stem/progenitor cells and gastric cancer cells. Finally, we explored the epigenetic regulation of critical genes for gastric corpus epithelium at chromatin state level, and identified several important cell-type-specific transcription factors. In summary, our work provides novel insights to systematically understand the cellular diversity and homeostasis of human gastric corpus epithelium in vivo.

A bioinformatic analysis of the role of TP53 status on the infiltration of CD8+ T cells into the tumor microenvironment

CD8+ T cells play basic roles in the immune system in a tumor microenvironment (TME) to fight cancer. Several reports have suggested signs of the involvement of tumor protein p53 (TP53) in a complex immune system network. Moreover, our previous research indicated that TP53 orchestrates the polarization and infiltration of macrophages into the TME. In the present study, the clinical function of TP53 status (wild/mutant) in CD8+ T cell infiltration was assessed using more than 10,000 The Cancer Genome Atlas (TCGA) samples from 30 cancer types through Tumor Immune Estimation (TIMER). Our investigation revealed that CD8+ T cell infiltration was higher in head and neck squamous cell carcinoma (HNSC) and uterine corpus endometrial carcinoma (UCEC) patients with wild-type TP53 than in those with mutant TP53. Wild-type TP53 conferred a good prognosis for HNSC and UCEC (P<0.05). In contrast, CD8+ T cell infiltration in lung adenocarcinoma (LUAD) patients with wild-type TP53 was much lower than in those with mutant TP53. Notably, clinical outcomes for LUAD with wild-type TP53 were poor (P<0.05). This study was the first to provide insights into the novel association of TP53 with CD8+ T cells infiltration in the TME in patients with HNSC, LUAD, and UCEC. Therefore, TP53 status acts as a prognostic marker, and this can be used as a basis to further study the effect of targeting TP53 in these patients. Furthermore, our study found that TP53 status was a reliable predictive factor and therapeutic target in patients with HNSC and UCEC.

Electroacupuncture stimulation attenuates corpus striatum white matter injury in rats with cerebral ischemia by inhibition of Nogo-A/NgR pathway / 针灸推拿医学（英文版）

Objective:To investigate the effect and the mechanism of electroacupuncture(EA)on corpus striatum white matter injury in rats with focal cerebral ischemia(FCI).Methods:Forty-four specific-pathogen-free Sprague-Dawley rats were divided into a normal group(n=10),a sham-operation group(sham group,n=10),and a modeling group(n=24)using the random number table method.The normal group was a blank control.In the sham group,only the vessels and vagus nerve were isolated without embolization.The FCI rat model in the modeling group was replicated using the middle cerebral artery occlusion embolization method.The 20 successfully modeled rats were randomly divided into a model group and an EA group,with 10 rats in each group.Rats in the model group did not receive further treatment.Rats in the EA group received EA stimulation at Baihui(GV20)and the left Zusanli(ST36)24 h after the successful modeling,30 min each time,once a day for 14 d.On the 14th day of the experiment,rats in each group were scored for neurological deficits and then sacrificed,and brain tissues containing corpus striatum around the ischemic focus were paraffin-embedded from 5 rats in each group.Luxol fast blue(LFB)staining was used to detect damage changes in the white matter.The positive immunoreactive expression of myelin basic protein(MBP),myelin-associated growth inhibitor A(Nogo-A)and its receptor(NgR)in rat corpus striatum tissue was detected by immunohistochemistry staining,and then the protein expression of MBP,Nogo-A,and NgR in the corpus striatum tissue around the ischemic focus was determined by Western blotting.Results:Compared with the normal group and the sham group,the model group had a significantly higher neurological deficit score(P＜0.05)and fiber bundle injuries in the corpus striatum white matter,evidenced by a significantly lower mean optical density value of corpus striatum LFB staining(P＜0.05),a significantly lower MBP expression level(P＜0.05),and significantly higher Nogo-A and NgR protein expression levels(P＜0.05).Compared with the model group,the neurological deficit score was significantly lower(P＜0.05),the mean optical density value of LFB staining was significantly higher(P＜0.05),the MBP expression level was increased(P＜0.05),and the expression levels of Nogo-A and NgR proteins were decreased(P＜0.05)in the EA group.Conclusion:EA reduces the ischemia-induced corpus striatum white matter injury and improves neurological deficits.The mechanism may be related to the inhibition of Nogo-A/NgR activation.

Severe COVID-19 complicated with mild encephalitis/encephalopathy with reversible splenial lesion of the corpus callosum: a case report / 中华神经科杂志

Since the global COVID-19 pandemic, SARS-CoV-2 infection, which causes COVID-19, has been associated with a range of diseases whose atypical manifestations have been increasingly reported. The mild encephalitis or encephalopathy associated with reversible corpus callosum lesions or mild encephalitis/encephalopathy with reversible splenial lesion (MERS) is a rare clinical and radiographic syndrome. At present, the pathogenesis of MERS caused by COVID-19 is still unclear, and its pathogenesis may include hypoxic damage, inflammatory response, immune disorders, changes in osmotic pressure, excitatory amino acid toxicity, oxidative stress and functional abnormalities of renin-angiotensin system. This paper reports a case of severe COVID-19 complicated with MERS, and discusses the pathogenesis from a pathophysiological point of view.

Rabdomiosarcoma embrionario botrioide de útero / Embryonal botryoid rhabdomyosarcoma of the uterus

Resumen El rabdomiosarcoma es una neoplasia maligna de origen mesenquimal con diferenciación muscular estriada esquelética. Es el sarcoma más común de la infancia y presenta cuatro subtipos: embrio nario, alveolar, pleomórfico y de células ahusadas/esclerosante. De todos ellos el embrionario es el de mayor prevalencia y presenta una variante, botrioide, que suele comprometer órganos huecos en forma de una masa polipoide multilobulada. Presentamos el caso de una mujer de 27 años que consultó por sangrado vaginal y en quien se evidenció en la colposcopia, una lesión polipoide blanquecina que se exteriorizaba a través del orificio cervical externo. El estudio histológico reveló sectores celulares alternados por áreas laxas, mixoides, junto a glándulas ístmico-endometriales típicas. La proliferación fusocelular atípica, se disponía en nidos, constituidos por células de amplio citoplasma eosinófilo con estriaciones citoplasmáticas transversales y núcleos excéntricos con cromatina homogénea. Se exhibían áreas de células densamente condensadas inmediatas y próximas al revestimiento epitelial intacto, pero separadas de él, por una fina capa de estroma laxo (capa cambial). El perfil de inmunomarcación resultó positivo para desmina, actina músculo específico y miogenina, y negativo para actina músculo liso. Se realizó diagnóstico de rabdomiosarcoma embrionario botroide de cuerpo uterino.

Abstract Rhabdomyosarcoma is a malignant neoplasm of mesenchymal origin with skeletal striated mus cular differentiation. It is the most common sarcoma of childhood and has four subtypes: embryonal, alveolar, pleomorphic and spindle cell/sclerosing. Of all of them, the embryonal one is the most prevalent and presents a variant, botryoid, which usually involves hollow organs in the form of a multilobed polypoid mass. We pres ent the case of a 27-year-old woman who consulted for vaginal bleeding and in whom colposcopy revealed a whitish polypoid lesion that was externalized through the external cervical os. Histological examination revealed cellular sectors alternated by lax, myxoid areas, together with typical isthmic-endometrial glands. The atypical spindle cell proliferation was arranged in nests, made up of ce lls with large eosinophilic cytoplasm with transverse cytoplasmic striations and eccentric nuclei with homogeneous chromatin. Areas of densely packed cells were exhibited immediately, but separated from, the intact epithelial lining by a thin layer of loose stroma (cambium layer). The immunostaining profile was positive for desmin, muscle-specific actin and myogenin, and negative for smooth muscle actin. A diagnosis of embryonal botryoid rhabdomyosarcoma of the uterine corpus was made.

Ischemic Stroke in Dengue Fever: Unusual Complication of a Common Disease

Dengue fever is an arboviral infection, which is highly prevalent in tropical and subtropical climates. It is frequently associated with neurological complications but its association with ischemic stroke is ill defined. We present a case of an apparently healthy young male admitted with dengue fever complicated by ischemic infarct in corpus callosum. Our patient was managed conservatively, improved clinically and discharged in satisfactory condition.

"Stable" vs. "silent progressive multiple sclerosis": a real-world retrospective clinical imaging Brazilian study / Esclerose múltipla "estável" vs. "silenciosamente progressiva": um estudo brasileiro retrospectivo de correlatos clínicos e imagem

ABSTRACT Background: Clinical and imaging are required to characterize activity and progression in MS. The parameters for activity are well defined but not those for progression. The ideal aim for long-term treatment is that neither clinical nor imaging signs of disease should be present, and also no brain atrophy. Objectives: To conduct a comparative clinical-imaging study focusing on MRI brain volumetry. Methods: 174 consecutive relapsing-remitting MS patients (McDonald 2001) were studied, focusing on activity and progression. Annual clinical evaluations (relapse rate and EDSS) and MRI data, along with the annualized evolution of the corpus callosum index (CCI), were compared. Results: Out of 174 patients, 148 were considered clinically "stable" based on EDSS. However, 33 (22.2%) out of this group showed annualized reductions in CCI of more than 0.5%, which was the cutoff for defining significant brain atrophy. Conclusions: Among apparently "stable" relapsing-remitting MS patients, 1/5 showed significant brain atrophy over a follow-up period of at least 7 years. We consider it reasonable to suggest that MRI volume sequences should be included in follow-up protocols, so as to provide information on the real treatment response status.

RESUMO Antecedentes: Critérios clínicos e de imagem são necessários para caracterizar atividade e progressão em esclerose múltipla (EM). Os parâmetros para a atividade são bem definidos, o que não ocorre com a progressão. O objetivo ideal para tratamento em longo prazo inclui ausência de sinais clínicos e de imagem, assim como inexistência de atrofia cerebral. Objetivos: Estudo comparativo de aspectos clínicos e correlatos de imagem, com foco em volumetria cerebral. Métodos: Foram avaliados 174 pacientes consecutivos com o diagnóstico de EM surto-remissiva (McDonald 2001), com foco em dados de atividade e progressão. A avaliação clínica anual (taxa de surtos e escala expandida do estado de incapacidade - EDSS) e dados de imagem, assim como a evolução anualizada do Índice de Corpo Caloso (CCI), foram comparados. Resultados: Da amostra inicial de 174 pacientes, 148 foram considerados "clinicamente estáveis" com base na EDSS. Todavia, 33 (22,2%) pacientes desse grupo mostraram redução volumétrica anualizada no índice de corpo caloso acima de 0,5%, nível de corte para definir a atrofia cerebral significativa. Conclusões: Entre pacientes de EM surto-remissiva aparentemente estáveis, cerca de 1/5 apresentou sinais de atrofia cerebral significativa em sete anos de seguimento. Consideramos razoável sugerir que sequências de volumetria deveriam ser incluídas nos protocolos de seguimento, fornecendo informação quanto ao real estado da resposta ao tratamento.

Estresse juvenil de curta frequência e intensidade não afeta a substância branca cerebral de ratos / Juvenile stress of short frequency and intensity does not affect rats´ brain white matter

O objetivo deste estudo foi avaliar os efeitos duradouros de dois tipos de estresse sobre o corpo caloso (CC). Foram estudados 42 ratos Wistar machos divididos aleatoriamente em três grupos: Grupo Controle (GC), Estresse Físico (EF, imobilização) e Estresse Psicológico (EP, exposição ao predador). Os procedimentos de estresse ocorreram durante três dias consecutivos na idade juvenil (P25-P27) e foram analisados na idade adulta (P74). Os cérebros foram coletados, processados com a técnica de Klüver-Barrera, e secções foram analisadas por meio de morfometria. Os resultados demonstraram que não houve alterações em aspectos gerais como peso dos animais, e histológicos como espessura do CC e quantidade dos núcleos gliais nesta região. O estudo sugere que os efeitos duradouros de ambos os modelos de estresse juvenil de curta frequência (3 dias) e intensidade (90 minutos/EF e 20 minutos/EP) não foram nem prejudiciais e nem protetores, o que pode ser considerado uma adaptação positiva.

The current study evaluates the lasting effects of two types of stress on the corpus callosum (CC). Forty-two male Wistar rats were randomly divided into three groups: Control Group (CG), Physical Stress (FS, immobilization) and Psychological Stress (PS, exposure to predators). Stress procedures occurred for three consecutive days at the juvenile stage (P25-P27) and analyzed at the adult age (P74); brains were retrieved and processed by Klüver-Barrera technique and sections were analyzed by morphometry. Results showed that there were no changes in the general aspects such as animal weight, and in the histological aspects such as CC thickness and quantity of the region´s glia nuclei. Current research suggests that the lasting effects of both models of juvenile stress of short frequency (3 days) and intensity (90 minutes/FS and 20 minutes/PS) were neither detrimental nor protective, featuring a positive adaptation.

A case of reversible splenial lesion syndrome characterized by increased antithyroid antibodies / 中华神经科杂志

Reversible splenial lesion syndrome (RESLES) is a rare clinical imaging syndrome caused by various etiologies and has no specific clinical manifestations, of which magnetic resonance imaging is characterized by reversible splenial lesion. Its etiology is complex, with infection more common, rare due to thyroid disease.The clinical data of a patient of RESLES with significantly increased anti-thyroid antibody are reported to enrich the etiology and further improve the understanding of the disease.

Functional magnetic resonance imaging study of drug-resistant medial temporal lobe epilepsy / 中华神经科杂志

Objective:To explore the changes of brain activity in drug-resistant or drug-controlled medial temporal lobe epilepsy patients by the method of functional connectivity density (FCD), and to analyze their correlation with the course of the disease.Methods:According to the definition of drug-resistant epilepsy by the International League Against Epilepsy in 2010, 146 patients with medial temporal lobe epilepsy who were clearly diagnosed as unilateral hippocampal sclerosis in Jinling Hospital, Nanjing University School of Medicine from July 2009 to February 2019 were divided into drug control group ( n=73) and drug-resistant group ( n=73). The 3.0 T resting state functional magnetic resonance scan was performed on all subjects to compare the difference in FCD between the two groups, and calculate the correlation between the FCD value of the brain area and the course of the disease between the two groups of patients. Results:There was significant difference between the two groups in FCD. Compared with the drug control group, the drug-resistant group had significantly lower FCD values in the insula, lenticular nucleus, thalamus, hippocampus and precentral gyrus on the side of the epileptogenic focus. The FCD value of the precuneus on the side of the epileptogenic focus in the drug-resistant group was negatively correlated with the duration ( r=-0.30, P=0.01). Conclusions:The FCD of patients with drug-resistant medial temporal lobe epilepsy was lower than that of the drug control group. In addition, there may be progressive damage to the brain. The difference is helpful for exploring the pathophysiological mechanisms related to drug resistance in patients with medial temporal lobe epilepsy, and finding reliable neuroimaging markers related to drug resistance.

Effects of letrozole combined with human menopausal gonadotropin on pregnancy rate and prognosis in patients with refractory polycystic ovary syndrome / 中国基层医药

Objective:To investigate the effects of letrozole combined with human menopausal gonadotropin (HMG) on pregnancy rate and prognosis in patients with refractory polycystic ovary syndrome (PCOS).Methods:A total of 102 patients with refractory PCOS who received treatment in Jinhua Hongyue Women's and Children's Hospital between May 2019 and May 2020 were included in this study. They were randomly assigned to observation and control groups ( n = 51/group). All patients received the same treatment in the early period. During later ovulation induction period, patients in the control group were administered HMG and those in the observation group were given letrozole combined with HMG. Before treatment and 3 months after treatment, sex hormones [follicle stimulating hormone (FSH), luteinizing hormone (LH), estradiol (E 2), testosterone (T)], arterial hemodynamic indicators around the follicle [end diastolic velocity (EDV), peak systolic velocity (PSV), pulsation index (PI)], endometrial thickness and classification were compared between the two groups. The ovulation rate and pregnancy rate as well as pregnancy outcomes at 6 months of follow-up were recorded in each group. Results:After 3 months of treatment, FSH, LH, E 2 and T levels in each group were significantly decreased compared with those before treatment (all P < 0.05). FSH, LH, E 2 and T levels in the observation group were (1.85 ± 0.45) U/L, (9.86 ± 1.47) U/L, (81.25 ± 10.47) pmol/L, (1.75 ± 0.26) nmol/L, respectively, which were significantly lower than those in the control group [(3.12 ± 1.47) U/L, (12.58 ± 2.14) U/L, (109.25 ± 27.14) pmol/L, (3.58 ± 0.76) nmol/L, t = 5.90, 7.48, 6.87, 16.27, all P < 0.05). EDV in each group was significantly decreased after 3 months of treatment compared with that before treatment (both P < 0.05). After treatment, EDV in the observation group was significantly lower than that in the control group [(3.12 ± 1.42) cm/s vs. (5.14 ± 1.89) cm/s, t = 21.14, P < 0.001]. PSV in each group was significantly increased after treatment compared with that before treatment (both P < 0.05). After treatment, PSV in the observation group was significantly higher than that in the control group [(13.36 ± 2.01) cm/s vs. (10.24 ± 2.47) cm/s, t = 4.21, P < 0.001]. In each group, PI measured after treatment was not significantly different from that measured before treatment (both P > 0.05). After treatment, endometrial thickness in the observation group was significantly higher than that in the control group [(9.09 ± 1.58) mm vs. (8.41 ± 1.42) mm, t = 2.28, P < 0.05]. Ovulation rate in the observation group was significantly higher than that in the control group [88.24% (45/51) vs. 70.59% (36/51), χ2 = 4.85, P < 0.05]. There were no significant differences in endometrial type, biochemical pregnancy, clinical pregnancy rate, abortion rate, and premature delivery rate between the two groups (all P > 0.05). Conclusion:Letrozole combined with HMG has an ideal effect on refractory PCOS. It can improve the levels of sex hormones, restore the hemodynamic status in ovarian stroma and increase ovulation rate.

Prenatal genetic diagnosis of the fetuses with isolated corpus callosum abnormality / 中华妇产科杂志

Objective:To explore the application value of chromosome karyotype analysis, chromosomal microarray analysis (CMA) and whole exome sequencing (WES) in prenatal diagnosis of isolated corpus callosum abnormality (CCA) fetus.Methods:Fetuses diagnosed with isolated CCA by ultrasound and MRI and receiving invasive prenatal diagnosis in Guangzhou Women and Children′s Medical Center and Qingyuan People′s Hospital from January 2010 to April 2021 were selected. Karyotype analysis and/or CMA [or copy number variation sequencing (CNV-seq)] were performed on all fetal samples, and WES was performed on fetal samples and their parents whose karyotype analysis and/or CMA (or CNV-seq) results were not abnormal.Results:Among 65 fetuses with isolated CCA, 38 cases underwent karyotype analysis, and 3 cases were detected with abnormal karyotypes, with a detection rate of 8% (3/38). A total of 49 fetuses with isolated CCA underwent CMA (or CNV-seq) detection, and 6 cases of pathogenic CNV were detected, the detection rate was 12% (6/49). Among them, the karyotype analysis results were abnormal, and the detection rate of further CMA detection was 1/1. The karyotype results were normal, and the detection rate of further CMA (or CNV-seq) detection was 14% (3/21). The detection rate of CMA as the first-line detection technique was 7% (2/27). A total of 25 fetuses with isolated CCA with negative results of karyotyping and/or CMA were tested by WES, and 9 cases (36%, 9/25) were detected with pathogenic genes. The gradient genetic diagnosis of chromosomal karyotyping, CMA and WES resulted in a definite genetic diagnosis of 26% (17/65) of isolated CCA fetuses.Conclusions:Prenatal genetic diagnosis of isolated CCA fetuses is of great clinical significance. The detection rate of CMA is higher than that of traditional karyotyping. CMA detection could be used as a first-line detection technique for fetuses with isolated CCA. WES could increase the pathogenicity detection rate of fetuses with isolated CCA when karyotype analysis and/or CMA test results are negative.

Diagnostic value of two-dimensional ultrasound combined with volume contrast imaging and MRI in fetal corpus callosum dysplasia / 国际生物医学工程杂志

Objective:To investigate the diagnostic value of two-dimensional ultrasound combined with volumetric contrast imaging (VCI) and magnetic resonance imaging (MRI) for the developmental abnormalities of the fetal corpus callosum.Methods:Seventy-three fetuses who underwent cranial MRI within 1 week after suspected fetal corpus callosum dysplasia on ultrasound and received a definitive diagnosis in the neonatal period were retrospectively recruited for the study. The fetal corpus callosum was observed in the transverse, coronal, and sagittal views of the fetus, and the hyaline septal cavity, lateral ventricle, third ventricle, and corpus callosum were observed in the MRI scan. The diagnostic results and sensitivity of two-dimensional ultrasound combined with volumetric contrast imaging and MRI were analyzed.Results:Neonatal imaging showed that among 73 fetuses, 32 had agenesis of the corpus callosum, 29 had hypoplasia of the corpus callosum, and 12 had normal development of the corpus callosum. The differences in diagnostic results and sensitivity between 2D ultrasound combined with volumetric contrast imaging and MRI testing for agenesis of the corpus callosum were not statistically significant (all P>0.05), and the differences in diagnostic results and sensitivity for hypoplasia of the corpus callosum were statistically significant ( P<0.05). Conclusions:Both 2D ultrasound combined with volumetric contrast imaging and MRI are of high value for the diagnosis of partial-type agenesis of the corpus callosum, but MRI is more advantageous for the diagnosis of agenesis of the corpus callosum, and MRI can be a useful supplement and verification tool for ultrasound to provide a more accurate clinical diagnosis.