Case Report: Molecular Analyses of Cell-Cycle-Related Genes in Cortical Brain Tissue of a Patient with Rasmussen Encephalitis.

Rasmussen's encephalitis (RE) stands as a rare neurological disorder marked by progressive cerebral hemiatrophy and epilepsy resistant to medical treatment. Despite extensive study, the primary cause of RE remains elusive, while its histopathological features encompass cortical inflammation, neuronal degeneration, and gliosis. The underlying molecular mechanisms driving disease progression remain largely unexplored. In this case study, we present a patient with RE who underwent hemispherotomy and has remained seizure-free for over six months, experiencing gradual motor improvement. Furthermore, we conducted molecular analysis on the excised brain tissue, unveiling a decrease in the expression of cell-cycle-associated genes coupled with elevated levels of BDNF and TNF-α proteins. These findings suggest the potential involvement of cell cycle regulators in the progression of RE.

Resting-state fMRI in patients with refractory epilepsy with and without drop attacks: exploring the connectivity of sensorimotor cortex.

OBJECTIVE: Patients with multifocal or generalized epilepsies manifesting with drop attacks have severe refractory seizures and significant cognitive and behavioural abnormalities. It is unclear to what extent these features relate to network abnormalities and how networks in sensorimotor cortex differ from those in patients with refractory focal epilepsies. Thus, in this study we sought to provide preliminary data on connectivity of sensorimotor cortex in patients with epileptic drop attacks, in comparison to patients with focal refractory epilepsies. METHODS: Resting-state fMRI (rs-fMRI) data was available for 5 patients with epileptic drop attacks and 15 with refractory focal epilepsies undergoing presurgical evaluation. Functional connectivity was analyzed with a seed-based protocol, with primary seeds placed at the precentral gyrus, the postcentral gyrus and the premotor cortex. For each seed, the subjects' timeseries were extracted and transformed to Z scores. Between-group analysis was then performed using the 3dttest+ + AFNI program. RESULTS: Two clusters of reduced connectivity in the group with drop attacks (DA group) in relation to those with focal epilepsies were found in the between-group analysis: the precentral seed showed reduced connectivity in the surrounding motor area, and the postcentral seed, reduced connectivity with the ipsilateral posterior cingulate gyrus. In the intra-group analyses, sensorimotor and premotor networks were abnormal in the DA group, whereas patients with focal epilepsies had the usual connectivity maps with each seed. CONCLUSION: This pilot study shows differences in the cerebral connectivity in the sensorimotor cortex of patients with generalized epilepsies and drop attacks which should be further explored to better understand the biological bases of the seizure generation and cognitive changes in these people.

Neurological syndromes and potential triggers associated with antibodies to neuronal surface antigens.

BACKGROUND: Autoantibodies against surface neuronal antigens have been associated with specific neurological presentations including autoimmune encephalitis (AE), with variable association with neoplasia and infections. METHODS: We described the phenotype and environmental associations of patients with neurological syndromes associated with antibodies against neuronal surface antigens who were referred to a tertiary center in the South of Brazil. All patients were tested for neuronal autoantibodies using cell-based assays. Clinical, radiological, and laboratory findings were retrospectively reviewed. RESULTS: We identified 16 patients, 15 had subacute, and one had a progressive disease course. Among patients with subacute onset, 11 (73 %) were N-Methyl-d-Aspartate receptor (NMDAr-IgG)+, 3 (20 %) were Leucine-rich Glioma-Inactivated-1 (LGI1-IgG)+, and 1 (6 %) was positive for Glycine receptor-IgG. The patient with a progressive disease course had antibodies against IgLON5. Most patients had disease onset in spring and summer suggesting environmental factors for the development of AE. Also, we observed a different pattern of brain lesions when NMDAr-IgG encephalitis followed herpes encephalitis and a previously unreported association with Rosai-Dorfman-Destombe disease. All patients with encephalopathy met criteria for possible AE and all proven NMDAr-IgG+ met criteria for NMDAr-IgG encephalitis. However, only one LGI1-IgG+ patient fulfilled clinical criteria for limbic encephalitis. All but one received high-dose intravenous methylprednisolone, 11 also had intravenous human immunoglobulin, and 4 plasma exchange. Furthermore, all patients received second-line immunotherapy. Importantly, most patients improved with immunotherapy, even when initiated later in the disease course. CONCLUSION: We identified seasonal variability associated with neuronal surface antibodies suggesting environmental triggers. Also, we described the coexistence of NMDAr-IgG encephalitis with histiocytosis. In our series, most patients received second-line immunotherapy. We observed neurologic improvement after treatment even in cases of delayed diagnosis. Increasing the recognition and availability of tests and treatments for these conditions is of paramount importance in low- and middle-income countries.

20-Month monitoring of SARS-CoV-2 in wastewater of Curitiba, in Southern Brazil.

The COVID-19 pandemic resulted in the collapse of healthcare systems and led to the development and application of several approaches of wastewater-based epidemiology to monitor infected populations. The main objective of this study was to carry out a SARS-CoV-2 wastewater based surveillance in Curitiba, Southern Brazil Sewage samples were collected weekly for 20 months at the entrance of five treatment plants representing the entire city and quantified by qPCR using the N1 marker. The viral loads were correlated with epidemiological data. The correlation by sampling points showed that the relationship between the viral loads and the number of reported cases was best described by a cross-correlation function, indicating a lag between 7 and 14 days amidst the variables, whereas the data for the entire city presented a higher correlation (0.84) with the number of positive tests at lag 0 (sampling day). The results also suggest that the Omicron VOC resulted in higher titers than the Delta VOC. Overall, our results showed that the approach used was robust as an early warning system, even with the use of different epidemiological indicators or changes in the virus variants in circulation. Therefore, it can contribute to public decision-makers and health interventions, especially in vulnerable and low-income regions with limited clinical testing capacity. Looking toward the future, this approach will contribute to a new look at environmental sanitation and should even induce an increase in sewage coverage rates in emerging countries.

A novel scale for suspicion of psychogenic nonepileptic seizures: development and accuracy.

OBJECTIVE: The differential diagnosis between epileptic and psychogenic nonepileptic seizures (PNES) is challenging, yet suspicion of PNES is crucial to rethink treatment strategies and select patients for diagnostic confirmation through video EEG (VEEG). We developed a novel scale to prospectively suspect PNES. METHODS: First, we developed a 51-item scale in two steps, based upon literature review and panel expert opinion. A pilot study verified the applicability of the instrument, followed by a prospective evaluation of 158 patients (66.5% women, mean age 33 years) who were diagnosed for prolonged VEEG. Only epileptic seizures were recorded in 103 patients, and the other 55 had either isolated PNES or both types of seizures. Statistical procedures identified 15 items scored between 0 and 3 that best discriminated patients with and without PNES, with a high degree of consistency. RESULTS: Internal consistency reliability of the scale for suspicion of PNES was 0.77 with Cronbach's Alpha Coefficient and 0.95 with Rasch Item Reliability Index, and performance did not differ according to the patient's gender. For a cut-off score of 20 (of 45) points, area under the curve was 0.92 (95% IC: 0.87-0.96), with an accuracy of 87%, sensitivity of 89%, specificity of 85%, positive predictive value of 77%, and negative predictive value of 94% (95% IC) for a diagnosis of PNES. CONCLUSIONS: The scale for suspicion of PNES (SS-PNES) has high accuracy to a reliable suspicion of PNES, helping with the interpretation of apparent seizure refractoriness, reframing treatment strategies, and streamlining referral for prolonged VEEG.

Control of drop attacks with selective posterior callosotomy: Anatomical and prognostic data.

OBJECTIVE: In a previous proof of concept study, selective posterior callosotomy achieved similar degree of control of drop attacks as total callosotomy, while sparing prefrontal interconnectivity. The present study aims to confirm this finding in a larger cohort and to provide anatomical and prognostic data. METHODS: Fifty-one patients with refractory drop attacks had selective posterior callosotomy and prospective follow up for a mean of 6.4 years. Twenty-seven patients had post-operative magnetic resonance imaging (MRI) and 18 had tractography (DTI) of remaining callosal fibers. Pre and postoperative falls were quantified and correlated with demographic, clinical and imaging data. RESULTS: Mean monthly frequency of drop attacks had a 95 % reduction, from 297 before to 16 after the procedure. Forty- one patients (80 %) had either complete or greater than 90 % control of the epileptic falls. Age and duration of epilepsy at surgery correlated with outcome (p values, respectively, 0.042 and 0.005). Mean index of callosal section along the posterior-to-anterior axis was 53.5 %. Extending the posterior section anterior to the midbody of the corpus callosum did not correlate with seizure control (p 0.91), providing fibers interconnecting the primary motor (M1) and caudal supplementary motor areas (SMA) were sectioned. Only one patient had a notable surgical complication which resolved in two days. CONCLUSIONS: This level III cohort study with objective outcome assessment confirms that selective posterior callosotomy is safe and effective to control epileptic falls. Younger patients with smaller duration of epilepsy have better results. A posterior section contemplating the splenium, isthmus and posterior half of the body (posterior midbody) seems sufficient to achieve complete or almost complete control of drop attacks.

Abordagem cirúrgica em bezerros com onfalite / Surgical approach in calves with omphalitis

Pathological changes in the umbilical region are common in calves. Among such alterations, omphalitis is included. This term is used to define inflammation and infection of the external structures of the umbilicus. According to the affected structures, it can be subclassified into omphalophlebitis, omphaloarteritis, omphalourachitis and panvasculitis. These inflammations are usually associated with bacterial infections. There are predisposing conditions that include inadequate handling such as poor hygiene and neglect of primary care. Omphalitis can affect the animal in a multisystemic way, compromising its well-being and bringing economic losses. In treatment, the use of antimicrobials does not always solve the problem. Thus, surgical treatment can be used, which has good results and should be the choice in the disease. The objective of this work is to report 30 cases of omphalitis in calves, submitted to surgical or conservative treatment. Thirty cases of omphalitis in calves treated in the routine of the Veterinary Hospital of the Paranaense University was analyzed. On physical examination, the animals presented fever, apathy, hyporexia or anorexia and increase of umbilical volume, usually with purulent secretion. Some animals had sepsis and arthritis. In animals with sepsis, hyperemia of the episcleral vessels, dehydration and severe apathy were observed. In calves with arthritis, increased joint volume, pain on palpation and lameness were observed. In animals where the owners did not authorize the surgery, treatment was instituted with sulfadoxine and flunixim meglumine. In dehydrated calves, fluid therapy was used. Animals that were surgically treated received the same clinical treatment protocol as non-operated animals. The surgical procedure was performed under general anesthesia and consisted of resection of the affected umbilical structures. Omphalophlebitis was the most common illness. The most frequent complication was sepsis. Calves treated surgically had a higher survival rate (86.66%) than those treated clinically (46.67%). The clinical signs presented by all animals converged with the literature, allowing for clinical diagnosis. Clinical examination is essential for diagnosis in omphalitis cases. Complementary methods include ultrasound, thermography and laparoscopy, which are important to identify changes in intra-abdominal umbilical structures. Accurate diagnosis of the involved structures was only possible in animals surgically, as well as alterations in organs such as the liver and bladder. There is great variability related to the umbilical structures involved, according to initial care, breeds, seasonality or even the method of conception. Unlike what is observed in the literature, in the present study, there was a higher prevalence of omphalophlebitis, demonstrating variability in relation to the umbilical structures involved. Sepsis, observed in 16.7% of cases, results from bacterial ascension of the umbilical structures. Lameness due to polyarthritis was found in 10% of animals. Meningoencephalitis was observed in 3.3%. Hepatic and retroperitoneal abscedation were observed in 6.7% and 3.3% of cases, respectively. Conservative treatment with antibiotics and local antiseptics has a limited effect on this type of condition, which was proven in the present study, since the survival rate was statistically higher in animals surgically treated.(AU)

Selective Posterior Callosotomy for Treatment of Epileptic Drop Attacks: Video Documentation of the Surgical Technique: 2-Dimensional Operative Video.

This is a surgical technique video of selective posterior callosotomy (SPC), a novel surgical procedure to alleviate refractory epileptic drop attacks.1 Departing from traditional approaches aiming the anterior half or the entire callosum, SPC sections the posterior half of the callosum sparing prefrontal connectivity.1 Drop attacks are generalized epileptic seizures characterized by sudden falls.1 These seizures are often seen in diffuse brain pathology associated with generalized or multifocal epilepsies, whose electroencephalogram (EEG) "fingerprint" is bilaterally synchronous epileptic discharges.1 Sectioning the callosum to control drop attacks follows the rationale that the rapid synchronization of discharges between motor and premotor regions of both hemispheres is the basis.1 The standard approach to callosotomies always contemplated the anterior fibers of the callosum.2 Literature reports that anterior sections lead to unsatisfactory control of drop attacks, and results are improved when extended into a total callosotomy.2,3 This evidence coupled with diffusion tensor imaging (DTI) findings showing that motor and premotor fibers actually cross through posterior half of the callosum led us to hypothesize that selective section of the posterior half of the callosum would section all relevant motor fibers and control drop attacks to a similar extent to total callosotomies, with the advantage of sparing prefrontal interconnectivity3 and no split-brain syndrome. Both our series, one retrospective, followed by a new prospective study have confirmed SPC to be a safe procedure, leading to complete or greater than 90% control of epileptic falls in 85% of patients.1 The video presented here was recorded during a selective posterior callosotomy performed on a 13-yr-old girl who had hundreds of uncontrollable drop attacks per day. Falls were completely controlled with significant gains in psychomotor development and cognition, after 5 yr of follow-up. The patient provided signed consent to the surgical procedure, video acquisition, photo acquisition, and storage at operations, and the publication of this material.

Posterior reversible encephalopathy syndrome (PRES): Is DWI a prognosis factor?

INTRODUCTION: Posterior reversible encephalopathy syndrome is a clinicoradiologic entity with typical MR imaging showing a white matter vasogenic edema predominantly affecting the occipital and parietal lobes of the brain. The aim of this article is evaluated the importance of DWI as a prognosis factor in patients with PRES. MATERIALS AND METHODS: We reviewed data from 70 patients with PRES (35 with restricted DWI and 35 with no DWI abnormalities), that were admitted to Hospital São Lucas-PUCRS. These two groups were evaluated in age, sex, previous diseases and past medical history, use of medications, the neurologic manifestations, the highest blood pressure during the neurologic presentation and the highest creatinine during the period of observation. RESULTS: Evaluating 70 patients with PRES with a mean age of 25.4 years old (range from 2 to 74 years old; 55 female and 15 male) we identified 35 cases were brain MRI presents with restricted DWI. Restricted DWI was associated with higher mortality in 90 days (14.2% vs 0.0%; p: 0.027). CONCLUSIONS: Few articles present new data that will help clinicians in therapeutic decisions or that modify the knowledge of this syndrome. We suggested that restricted DWI is associated with a worst prognosis in PRES.

The death and the miracles of brother Fabian of Christ: connections between religious beliefs and healing in eighteenth-century Rio de Janeiro. / A morte e os milagres de frei Fabiano de Cristo: conexões entre crenças religiosas e cura de doenças no Rio de Janeiro setecentista.

Based on accounts of a hagiographic nature on brother Fabian of Christ and witness reports by the faithful after his death, this article analyzes the representations surrounding the death of the servant of god and studies the connections between the veneration of saints and healing practices in Rio de Janeiro in the mid-eighteenth century. At this time, there was a notable lack of distinction between medical knowledge and religious belief. As such, the zealous acts of the Franciscan friar over a period of decades in his work as infermarian at the Convent of Saint Anthony of Rio de Janeiro led some of the faithful to identify him as a saint after his death.

Com base nos relatos de caráter hagiográfico elaborados sobre frei Fabiano de Cristo e em testemunhos deixados por fiéis após a morte do religioso, o artigo analisa as representações em torno da morte do servo de Deus e estuda as conexões existentes entre o culto aos santos e a cura de doenças no Rio de Janeiro em meados do século XVIII. Nesse contexto era marcada a indistinção entre saberes médicos e crenças religiosas. Partindo desse pressuposto, o zeloso desempenho do religioso franciscano, durante décadas, da função de enfermeiro do Convento de Santo Antônio do Rio de Janeiro permitiu que alguns fiéis o identificassem como santo após a sua morte.

A morte e os milagres de frei Fabiano de Cristo: conexões entre crenças religiosas e cura de doenças no Rio de Janeiro setecentista / The death and the miracles of brother Fabian of Christ: connections between religious beliefs and healing in eighteenth-century Rio de Janeiro

Resumo Com base nos relatos de caráter hagiográfico elaborados sobre frei Fabiano de Cristo e em testemunhos deixados por fiéis após a morte do religioso, o artigo analisa as representações em torno da morte do servo de Deus e estuda as conexões existentes entre o culto aos santos e a cura de doenças no Rio de Janeiro em meados do século XVIII. Nesse contexto era marcada a indistinção entre saberes médicos e crenças religiosas. Partindo desse pressuposto, o zeloso desempenho do religioso franciscano, durante décadas, da função de enfermeiro do Convento de Santo Antônio do Rio de Janeiro permitiu que alguns fiéis o identificassem como santo após a sua morte.

Abstract Based on accounts of a hagiographic nature on brother Fabian of Christ and witness reports by the faithful after his death, this article analyzes the representations surrounding the death of the servant of god and studies the connections between the veneration of saints and healing practices in Rio de Janeiro in the mid-eighteenth century. At this time, there was a notable lack of distinction between medical knowledge and religious belief. As such, the zealous acts of the Franciscan friar over a period of decades in his work as infermarian at the Convent of Saint Anthony of Rio de Janeiro led some of the faithful to identify him as a saint after his death.

Localization yield and seizure outcome in patients undergoing bilateral SEEG exploration.

OBJECTIVE: We aimed to determine the rates and predictors of resection and seizure freedom after bilateral stereo-electroencephalography (SEEG) implantation. METHODS: We reviewed 184 patients who underwent bilateral SEEG implantation (2009-2015). Noninvasive and invasive evaluation findings were collected. Outcomes of interest included subsequent resection and seizure freedom. Statistical analyses employed multivariable logistic regression and proportional hazard modeling. Preoperative and postoperative seizure frequency, severity, and quality of life scales were also compared. RESULTS: Following bilateral SEEG implantation, 106 of 184 patients (58%) underwent resection. Single seizure type (P = 0.007), a family history of epilepsy (P = 0.003), 10 or more seizures per month (P = 0.004), lower number of electrodes (P = 0.02), or sentinel electrode placement (P = 0.04) was predictive of undergoing a resection, as were lack of nonlocalized (P < 0.0001) or bilateral (P < 0.0001) ictal-onset zones on SEEG. Twenty-six of 81 patients (32% with follow-up greater than 1 year) remained seizure-free. Predictors of seizure freedom were single seizure type (P = 0.01), short epilepsy duration (P = 0.008), use of 2 or fewer antiepileptic drugs (AEDs) at the time of surgery (P = 0.0006), primary localization hypothesis involving the frontal lobe (P = 0.002), sentinel electrode placement only (P = 0.02), and lack of overlap between ictal-onset zone and eloquent cortex (P = 0.04), along with epilepsy substrate histopathology (P = 0.007). Complete resection of a suspected focal cortical dysplasia showed a trend to increased likelihood of seizure freedom (P = 0.09). The 44 of 55 patients (80%) who underwent resection and experienced seizure recurrence had >50% seizure reduction, as opposed to 26 of 45 patients (58%) who continued medical therapy alone (P = 0.003). Seventy-two percent of patients had a clinically meaningful quality of life improvement (>10% decrease in the Quality of Life in Epilepsy [QOLIE-10] score) at 1 year. SIGNIFICANCE: A strong preimplantation hypothesis of a suspected unifocal epilepsy increases the odds of resection and seizure freedom. We discuss a tailored approach, taking into account localization hypothesis and suspected epilepsy etiology in guiding implantation and subsequent surgical strategy.

Heterotopia or overlaying cortex: What about in-between?

We describe a patient with unilateral periventricular nodular heterotopia (PNH) and drug-resistant epilepsy, whose SEEG revealed that seizures were arising from the PNH, with the almost simultaneous involvement of heterotopic neurons ("micronodules") scattered within the white matter, and subsequently the overlying cortex. Laser ablation of heterotopic nodules and the adjacent white matter rendered the patient seizure free. This case elucidates that "micronodules" scattered in white matter between heterotopic nodules and overlying cortex might be another contributor in complex epileptogenicity of heterotopia. Detecting patient-specific targets in the epileptic network of heterotopia creates the possibility to disrupt the pathological circuit by minimally invasive procedures.

A morte e os milagres de frei Fabiano de Cristo: conexões entre crenças religiosas e cura de doenças no Rio de Janeiro setecentista / The death and the miracles of brother Fabian of Christ: connections between religious beliefs and healing in eighteenth-century Rio de Janeiro

Com base nos relatos de caráter hagiográfico elaborados sobre frei Fabiano de Cristo e em testemunhos deixados por fiéis após a morte do religioso, o artigo analisa as representações em torno da morte do servo de Deus e estuda as conexões existentes entre o culto aos santos e a cura de doenças no Rio de Janeiro em meados do século XVIII. Nesse contexto era marcada a indistinção entre saberes médicos e crenças religiosas. Partindo desse pressuposto, o zeloso desempenho do religioso franciscano, durante décadas, da função de enfermeiro do Convento de Santo Antônio do Rio de Janeiro permitiu que alguns fiéis o identificassem como santo após a sua morte.

Neuropsychiatric features of the coexistence of epilepsy and psychogenic nonepileptic seizures.

OBJECTIVE: To investigate demographic, epidemiologic and psychiatric features suggestive of the coexistence epilepsy (ES) and psychogenic nonepileptic seizures (PNES) that may contribute to precocious suspicion of the association. METHODS: In this exploratory study, all patients older than 16 years admitted to prolonged video-electroencephalogram monitoring were evaluated about demographic, epileptological and psychiatric features. Detailed psychiatric assessment using M.I.N.I.-plus 5.0, Beck Anxiety Inventory, Beck Depression Inventory and the Childhood Trauma Questionnaire (CTQ) was performed. Data were collected previous to the final diagnosis and patients with ES-only, PNES-only or coexistence of ES/PNES were compared. RESULTS: Of 122 patients admitted to epilepsy monitoring unit, 86 patients were included and 25 (29%) had PNES. Twelve (14%) had PNES-only, 13 (15%) had ES/PNES and the remaining 61 (71%) had only ES. A coexistence of ES and PNES was associated with clinical report of more than one seizure type (p˂0.001), nonspecific white matter hyperintensities on MRI (p < .001) and a past of psychotic disorder (p = .005). In addition, these patients had significantly more emotional abuse and neglect (p < .002 and 0.001, respectively). Somatization (including conversion disorder) was the most common diagnosis in patients with PNES- only (83%) and co-existing of PNES and ES (69.2%), differentiating both from ES-only patients (p < .001). CONCLUSION: The high prevalence of this coexistence ES/PNES in this study reinforces a need to properly investigate PNES, especially in patients with confirmed ES who become refractory to medical treatment with antiepileptic drugs. The neuropsychiatric assessment may help to diagnostic suspicion and in the planning of therapeutic interventions.

Suicide risk, temperament traits, and sleep quality in patients with refractory epilepsy.

OBJECTIVES: The objective of the study was to access the suicide risk (SR) in patients with refractory epilepsy and its association with temperament and sleep quality. METHODS: A total of 50 consecutive patients referred for epilepsy surgery evaluation in the Porto Alegre Epilepsy Surgery Program were included. All patients had a detailed neurologic and psychiatric evaluation, including video-electroencephalogram (VEEG), high-resolution magnetic ressonance imaging (MRI), and neuropsychologic assessment. In addition, structured questionnaires were applied: module C of the MINI-plus (International Neuropsychiatric Interview-Brazilian version 5.0.0), Affective and Emotional Composite Temperament Scale (AFECTS), and Pittsburgh Sleep Quality Index (PSQI). RESULTS: Ten patients (20.0%) showed an increased SR. The most frequent location of the epileptic focus was in the temporal lobe (50%; n=25). Final diagnosis on VEEG comprised epilepsy in 74.0% (n=37), psychogenic nonepileptic seizures (PNES) in 8.0% (n=4), and both in 12%. Thirty patients (60.0%) received surgery indication. Mood disorders were the main psychiatric diagnosis, found in 19 subjects (70.4%), with major depressive disorder (MDD) encountered in 15 patients (55.6%). In the group, SR was more frequent in patients with sleep disorders (p=0.001) and elevated scores of high emotional sensitivity (p=0.003). CONCLUSION: In this cohort of patients with highly refractory epilepsy, there was a significant association between SR, sleep disorders, and high emotional sensitivity. Careful evaluation of these factors should be performed in these patients to fully access SR.

Polymyositis without Beneficial Response to Steroid Therapy: Should Miyoshi Myopathy be a Differential Diagnosis?

BACKGROUND Miyoshi myopathy (MM) is an autosomal-recessive muscle disorder caused by mutations in the DYSF gene. Clinical features and histopathological changes in dysferlinopathies may mimic inflammatory myopathies and a high degree of clinical suspicion is required to guide the genetic investigation. CASE REPORT We report the case of a 16-year-old male who presented with severe bilateral calf pain and elevated CK levels (15 000 IU/l) who was on prolonged steroid therapy prompted by the clinical suspicion of inflammatory myopathy. Three years into his illness, he was referred for neuromuscular evaluation presenting with untreatable muscle pain and progressive weakness. The diagnosis of "refractory polymyositis" was revisited. Targeted exome sequencing revealed homozygous pathogenic mutations in the DYSF gene, confirming a diagnosis of Miyoshi myopathy. CONCLUSIONS Our case illustrates that severe muscle pain may be the initial feature of Miyoshi myopathy and should be considered in the differential diagnosis of inflammatory myopathies. Although the described patient reported partial clinical improvement in muscle pain, steroid treatment is not an effective therapy for dysferlinopathy patients and it did not prevent disease progression. In addition, we confirm the utility of next-generation sequencing approaches to myopathies, particularly in complex or unusual cases when muscle biopsy is not available.

Thermoregulatory Instability in Childhood: Linking the Normal Brain to Hypothalamic Storm.

Central core temperature is tightly controlled by hypothalamic centers, a feature that makes sudden changes in body temperature very unusual. A dysfunction of these hypothalamic pathways leads to Shapiro's syndrome, comprising spontaneous hypothermia, hyperhidrosis, and corpus callosum dysgenesis. Although it may affect any age, usually it presents in childhood. Variants to this syndrome with completely normal brain anatomy have been consistently reported, expanding the clinical spectrum of the syndrome. Herein, we report the case of a 4-year-old girl with Shapiro's syndrome and unaffected corpus callosum.

Selective posterior callosotomy for drop attacks: A new approach sparing prefrontal connectivity.

OBJECTIVE: To evaluate a novel approach to control epileptic drop attacks through a selective posterior callosotomy, sparing all prefrontal interconnectivity. METHODS: Thirty-six patients with refractory drop attacks had selective posterior callosotomy and prospective follow-up for >4 years. Falls, episodes of aggressive behavior, and IQ were quantified. Autonomy in activities of daily living, axial tonus, and speech generated a functional score ranging from 0 to 13. Subjective effect on patient well-being and caregiver burden was also assessed. RESULTS: Median monthly frequency of drop attacks decreased from 150 to 0.5. Thirty patients (83%) achieved either complete or >90% control of the falls. Need for constant supervision decreased from 90% to 36% of patients. All had estimated IQ below 85. Median functional score increased from 7 to 10 (p = 0.03). No patient had decrease in speech fluency or hemiparesis. Caregivers rated the effect of the procedure as excellent in 40% and as having greatly improved functioning in another 50%. Clinical, EEG, imaging, and cognitive variables did not correlate with outcome. CONCLUSIONS: This cohort study with objective outcome assessment suggests that selective posterior callosotomy is safe and effective to control drop attacks, with functional and behavioral gains in patients with intellectual disability. Results are comparable to historical series of total callosotomy and suggest that anterior callosal fibers may be spared. CLASSIFICATION OF EVIDENCE: This study provides Class III evidence that selective posterior callosotomy reduces falls in patients with epileptic drop attacks.

A clausura enferma: petições para a saída do Convento da Ajuda no Rio de Janeiro para tratamento de doenças contagiosas, c.1750-1780 / Disease in the cloisters: requests to leave Convento da Ajuda, Rio de Janeiro, for the treatment of contagious diseases, c.1750-1780

O artigo discute os pedidos de freiras do Convento da Ajuda para deixar a clausura a fim de curar doenças contagiosas. O padecimento dessas doenças era considerado uma das poucas exceções para permitir a saída das freiras. As ordens femininas guardavam estritamente a clausura, condição necessária para manter o recato de virgens consagradas a Cristo. A documentação contém detalhes sobre as causas e as formas de transmissão das doenças, bem como sobre os tipos de tratamento para combatê-las. Por fim, os processos esclarecem os procedimentos adotados fora da clausura para as freiras não colocarem em risco o recolhimento e a honra, quando iam buscar em locais distantes o tratamento adequado para aquelas doenças.(AU)

This article discusses the requests submitted by nuns from Convento da Ajuda (Ajuda Convent) to leave their life of enclosure to receive treatment for contagious diseases. Disease was one of the few cases in which nuns were granted permission to leave. The female orders were strictly cloistered in order to preserve their purity as virgins consecrated to Christ. Extant documents detail the causes of the diseases, the ways they were transmitted, and the treatments used to fight them. These processes shed light on the procedures adopted outside the cloisters so that the nuns did not jeopardize their reclusion and honor when they went to distant places in search of treatment.(AU)