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The article presents the author's views on high cesarean rates in Brazil. He opines on the association between that the local coverage of private health insurance and the percentage rates of caesarean births in Brazilian states. He comments that the most underpaid medical procedure in the financial reimbursement offered by Brazilian private health insurance is the vaginal delivery.

Neurodegeneration with brain iron accumulation (NBIA) encompasses a clinically and genetically heterogeneous group of rare disorders. Here, we report clinical, neuroimaging and genetic studies in twenty three Brazilian NBIA patients. In thirteen subjects, deleterious variants were detected in known NBIA-causing genes (PANK2, PLA2G6, C9ORF12, WDR45 and FA2H), including previously unreported variants in PANK2 and PLA2G6. Two patients carried rare, likely pathogenic variants in genes not previously associated with NBIA: KMT2A c.11785A > C (p.Ile3929Leu), and TIMM8A c.127T > C (p.Cys43Arg), suggesting an expansion of their associated phenotypes to include NBIA. In eight patients the etiology remains unsolved, suggesting variants undetectable by the adopted methods, or the existence of additional NBIA-causing genes., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024. Published by Elsevier Ltd.)

Objective: To study the effect of antenatal corticosteroid administration on fetal hemodynamics using longitudinal analysis of Doppler waveforms in the umbilical artery (UA) and middle cerebral artery (MCA)., Materials and Methods: This was a retrospective study that included 30 fetuses at risk for preterm birth. Twenty-eight pregnant women were treated with betamethasone for fetal lung maturation. Doppler examinations of the UA and MCA were performed once before and three or eight times after corticosteroid administration. We used a Bayesian hierarchical linear model. Reference ranges were constructed, and associations between variables (gestational age and pre-eclampsia) were tested., Results: The mean maternal age, gestational age at betamethasone administration, and gestational age at delivery were 32.6 ± 5.89 years, 30.2 ± 2.59 weeks, and 32.9 ± 3.42 weeks, respectively. On UA Doppler, there was a significant decrease in the pulsatility index (PI) after corticosteroid administration, with a mean of 0.1147 (credibility interval: 0.03687-0.191) in three observations and a median of 0.1437 (credibility interval: 0.02509-0.2627) in eight observations. However, there was no significant change in the Doppler MCA PI, regardless of gestational age and the presence or absence of pre-eclampsia., Conclusion: Although antenatal corticosteroid administration induced a significant decrease in the Doppler UA PI, we observed no change in the cerebral vasculature.

Objective: To evaluate the maternal-fetal hemodynamic effects after osteopathic manipulative treatment by measuring vital signs and Doppler velocimetry in third-trimester pregnant women., Materials and Methods: This is a prospective study with pregnant women undergoing outpatient follow-up and hospitalized in a ward at Instituto Fernandes Figueira/Fiocruz, between August 2021 to August 2022, during the SARS-CoV-2 pandemic. This study was registered in REBEC under Register Number RBR-9q7kvg and approved by the ethics committee under number 32216620.0.0000.5269. The study population was composed of 51 pregnant women between 28 and 40 weeks of gestation, over 18 years of age, allocated in a single group. Pregnancies with multiple fetuses, malformations, premature rupture of the membrane, and active labor were excluded. The procedures evaluated maternal-fetal hemodynamics using three consecutive measures of ultrasound examination with Doppler velocimetry, and three maternal vital signs measured by an electronic blood pressure monitor., Results: Most vital signs changed after osteopathic treatment. However, only the systolic blood pressure (109.92 ±14.42 to 110.71±12.8, p = 0.033), diastolic blood pressure (79.8±11.54 to 77.57±9.44, p = 0.018) and heart rate (87.59±11.93 to 81.12±10.26, p = 0.000) in the sitting position, systolic blood pressure (110.75±13.26 to 108.59±13.07; p = 0.034) in the supine, and heart rate (83.22±11.29 to 80.39±11.0; p = 0.013) in left lateral decubitus reached statistical significance. The oximetry measures (98.55±0.64 to 98.67±0.68; p = 0.098) stayed stable during all three positions. All artery values remained stable after treatment, and no statistically significant difference was recorded in the artery results., Conclusion: Responses to osteopathic treatment in women in the third trimester of pregnancy did not affect uteroplacental and fetoplacental circulation. However, some maternal vital signs had statistically significant results, with a decrease in diastolic blood pressure and heart rate, and an increase in systolic blood pressure in the sitting position, a decrease of heart rate in the left lateral decubitus position, and systolic blood pressure in the supine position. All the results observed were maintained in the normal parameters. The study responses attest to the safety of using the osteopathic manipulative treatment for the fetus and for pregnant women with comorbidities., Competing Interests: The authors have declared that no competing interests exist., (Copyright: © 2024 Arruda Correia et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.)

A 45-year-old woman presented with sudden complete vision loss in her left eye and retroorbital pain worsened by eye movements. A previous milder episode of vision loss had occurred in the same eye 1 year before, with complete recovery after high-dose intravenous methylprednisolone. She had no light perception in the left eye with a swollen optic disc, but with a normal right optic disc. There were no systemic manifestations or infections. MR scan of the brain showed extensive enlargement and enhancement of the left optic nerve and optic chiasm. After excluding infections and autoimmune markers, a left optic nerve biopsy confirmed non-caseating granulomas, leading to a diagnosis of neurosarcoidosis., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ.)

Background: Functional gait is a disorder of ambulation and balance internally inconsistent and incongruent with the phenotypic spectrum of neurological gait disorders., Objectives: This paper aims to clinically characterize patients with functional ataxia., Methods: Patients with functional ataxia were analyzed out of 1350 patients in Ataxia Unit of the Federal University of São Paulo circa 2008 to 2022., Results: Thirteen patients (1 %) presented with functional ataxia; all female, with a median age of 34.8 years. Six (46.2 %) had psychiatric comorbidities and 7 (53.8 %) endorsed a trigger. Diagnostic features included variable base and stride (100 %), "huffing and puffing" (30.7 %), knee-buckling (30.7 %), uneconomic posturing (38.5 %), tightrope walking (23 %), and trembling gait (15.4 %). Remarkably, no falls were reported in any case. 53.8 % recovered fully or partially, despite no treatment., Conclusions: Variability of base and stride are universal features of functional ataxia, yet falls are inconspicuous. Functional Ataxia is rare even in a specialized ataxia center., Competing Interests: Declaration of competing interest The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: Alberto J Espay reports a relationship with National Institutes of Health that includes: funding grants. Alberto J Espay reports a relationship with The Michael J Fox Foundation that includes: funding grants. Alberto J Espay reports a relationship with NeuroDerm Ltd that includes: consulting or advisory. Alberto J Espay reports a relationship with Amneal Pharmaceuticals LLC that includes: consulting or advisory and speaking and lecture fees. Alberto J Espay reports a relationship with ACADIA Pharmaceuticals Inc that includes: consulting or advisory. Alberto J Espay reports a relationship with Avion Pharmaceuticals that includes: consulting or advisory and speaking and lecture fees. Alberto J Espay reports a relationship with Acorda Therapeutics Inc that includes: consulting or advisory. Alberto J Espay reports a relationship with Kyowa Kirin Inc that includes: consulting or advisory. Alberto J Espay reports a relationship with Sunovion Pharmaceuticals Inc that includes: consulting or advisory. Alberto J Espay reports a relationship with Supernus Pharmaceuticals Inc that includes: consulting or advisory and speaking and lecture fees. Alberto J Espay reports a relationship with Herantis Pharma Oyj that includes: consulting or advisory and speaking and lecture fees. Alberto J Espay reports a relationship with Lippincott Williams and Wilkins Inc that includes: consulting or advisory. Alberto J Espay reports a relationship with Cambridge University Press that includes: consulting or advisory. Alberto J Espay reports a relationship with Springer Healthcare Limited that includes: consulting or advisory. AJE cofounded REGAIN Therapeutics and is co-inventor of the patent “Compositions and methods for treatment and/or prophylaxis of proteinopathies.”, (Copyright © 2024 Elsevier Ltd. All rights reserved.)

Background: ATXN2 is the causative gene of spinocerebellar ataxia type 2 (SCA2) and has been implicated in glaucoma pathogenesis. Therefore, studying ocular changes in SCA2 could uncover clinically relevant changes., Objective: The aim was to investigate optic disc and retinal architecture in SCA2., Methods: We evaluated 14 patients with SCA2 and 26 controls who underwent intraocular pressure measurement, fundoscopy, and macular and peripapillary spectral domain optical coherence tomography (SD-OCT). We compared SD-OCT measurements in SCA2 and controls, and the frequency of glaucomatous changes among SCA2, controls, and 76 patients with other SCAs (types 1, 3, 6, and 7)., Results: The macula, peripapillary retinal nerve fiber and inner plexiform layers were thinner in SCA2 than in controls. Increased cup-to-disc ratio was more frequent in SCA2 than in controls and other SCAs., Conclusions: Ocular changes are part of SCA2 phenotype. Future studies should further investigate retinal and optic nerve architecture in this disorder., (© 2023 International Parkinson and Movement Disorder Society.)

This was a household-based prospective cohort study conducted in Rio de Janeiro, in which people with laboratory-confirmed coronavirus disease 2019 (COVID-19) and their household contacts were followed from April 2020 through June 2022. Ninety-eight reinfections were identified, with 71 (72.5%) confirmed by genomic analyses and lineage definition in both infections. During the pre-Omicron period, 1 dose of any COVID-19 vaccine was associated with a reduced risk of reinfection, but during the Omicron period not even booster vaccines had this effect. Most reinfections were asymptomatic or milder in comparison with primary infections, a justification for continuing active surveillance to detect infections in vaccinated individuals. Our findings demonstrated that vaccination may not prevent infection or reinfection with severe acute respiratory syndrome coronavirus 2 (SARS CoV-2). Therefore we highlight the need to continuously update the antigenic target of SARS CoV-2 vaccines and administer booster doses to the population regularly, a strategy well established in the development of vaccines for influenza immunization programs., Competing Interests: Potential conflicts of interest. The authors: No reported conflicts of interest. All authors have submitted the ICMJE Form for Disclosure of Potential Conflicts of Interest. Conflicts that the editors consider relevant to the content of the manuscript have been disclosed., (© The Author(s) 2023. Published by Oxford University Press on behalf of Infectious Diseases Society of America. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.)

Immune-mediated cerebellar ataxias were initially described as a clinical entity in the 1980s, and since then, an expanding body of evidence has contributed to our understanding of this topic. These ataxias encompass various etiologies, including postinfectious cerebellar ataxia, gluten ataxia, paraneoplastic cerebellar degeneration, opsoclonus-myoclonus-ataxia syndrome and primary autoimmune cerebellar ataxia. The increased permeability of the brain-blood barrier could potentially explain the vulnerability of the cerebellum to autoimmune processes. In this manuscript, our objective is to provide a comprehensive review of the most prevalent diseases within this group, emphasizing clinical indicators, pathogenesis, and current treatment approaches., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2023 Elsevier Ltd. All rights reserved.)

Competing Interests: The authors have no conflict of interest to declare.

Climate change is one of the most relevant challenges that the world has to deal with. Studies that aim to understand the behavior of environmental and atmospheric variables and the way they relate to each other can provide helpful insights into how the climate is changing. However, such studies are complex and rarely found in the literature, especially in dealing with data from the Brazilian territory. In this paper, we analyze four environmental and atmospheric variables, namely, wind speed, radiation, temperature, and humidity, measured in 27 Weather Stations (the capital of each of the 26 Brazilian states plus the federal district). We use the detrended fluctuation analysis to evaluate the statistical self-affinity of the time series, as well as the cross-correlation coefficient ρDCCA to quantify the long-range cross-correlation between stations, and a network analysis that considers the top 10% ρDCCA values to represent the cross-correlations between stations better. The methodology used in this paper represents a step forward in the field of hybrid methodologies, combining time series and network analysis that can be applied to other regions, other environmental variables, and also to other fields of research. The application results are of great importance to better understand the behavior of environmental and atmospheric variables in the Brazilian territory and to provide helpful insights about climate change and renewable energy production., Competing Interests: As described in the manuscript itself, the authors declare that there are no conflicting interests., (Copyright: © 2023 Oliveira Filho et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.)

During pregnancy, the various changes women undergo can affect their health status. Manual therapies are important aids because they do not use medication. This study aimed to evaluate the influence of osteopathic manipulative treatment on the intensity of lumbar and pelvic pain and changes in quality of life. This prospective study included women over 18 years old and between 27 and 41 weeks pregnant, and excluded women with fetal malformations, multiple fetuses, premature rupture of membranes, and in labor. Forty-six pregnant women were selected and divided into two groups of ≤3 and ≥4 visits. Statistically significant improvements were observed in the intensity of maximum low back pain (7.54 ± 1.47 vs. 3.815 ± 1.73, p ≤ 0.01) and minimum low back pain (5.67 ± 2.03 vs. 3.111 ± 1.67, p ≤ 0.01), maximum pelvic pain (6.54 ± 2.22 vs. 2.77 ± 1.64, p = 0.01), and minimum pelvic pain (5.615 ± 2.21 vs. 2.615 ± 1.66, p = 0.01). Both groups achieved improvements in quality of life indices, with the improvements achieved by the ≥4-visits group being statistically significant. Osteopathic treatment was effective in reducing the intensity of lumbar and pelvic pain and in improving the quality of life of pregnant women in the third trimester.

Objective: To carry out a systematic review to assess the effects of intra-abdominal hypertension on maternal-fetal outcomes., Methods: The search was carried out between 28th June to 4th July 2022 on the Biblioteca Virtual em Saúde, Pubmed, Embase, Web of Science, and Cochrane databases. The study was registered in PROSPERO (CRD42020206526). The systematic review was performed according to the guidelines of the Preferred Reporting Items for Systematic Reviews and Meta-Analyses: The PRISMA Statement. To assess the methodological quality and control the risk of bias, New Castle was used., Results: A total of 6203 articles were found. Of these, 5 met the selection criteria for a full reading. The selected studies included a total of 271 pregnant women, of which 242 underwent elective cesarean section and measurement of intra-abdominal pressure via a bladder catheter. In both pregnant women groups, the lowest intra-abdominal pressure values were found in the supine position with left lateral tilt. Prepartum values in normotensive women with singleton pregnancy (7.3±1.3 to 14.1 ± 1 mmHg) were lower than in gestational hypertensive disorders (12.0±3.3 to 18.3±2.6 mmHg). In postpartum, the values decreased in both groups but were even lower in normotensive women (3.7±0.8 to 9.9 ± 2.6 mmHg vs 8.5 ± 3.6 to 13.6 ± 3.3 mmHg). The same was true for twin pregnancies. The Sequential Organ Failure Assessment index ranged from 0.6 (0.5) to 0.9 (0.7) in both groups of pregnant women. The placental malondialdehyde levels were statistically (p < 0.05) higher in pregnant women with pre-eclampsia (2.52±1.05) than normotensive (1.42±0.54)., Conclusions: Prepartum intra-abdominal pressure values in normotensive women were close or equal to intra-abdominal hypertension and compatible with gestational hypertensive disorders even in the postpartum period. IAP values were consistently lower in supine position with lateral tilt in both groups. Significant correlations were found between prematurity, low birth weight, pregnant women with hypertensive disorders, and increased intra-abdominal pressure. However, there was no significant association of dysfunction in any system in the relationship between intra-abdominal pressure and Sequential Organ Failure Assessment. Despite the higher malondialdehyde values in pregnant women with pre-eclampsia, the findings were inconclusive. Given the observed data on maternal and fetal outcomes, it would be recommended that intra-abdominal pressure measurements be standardized and used as a diagnostic tool during pregnancy., Trial Registration: PROSPERO registration: October 9th, 2020, CRD42020206526., Competing Interests: The authors have declared that no competing interests exist., (Copyright: © 2023 Arruda Correia et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.)

Pallister - Hall syndrome is a rare malformation that involves the presence of a suprasellar hamartoma and associated malformations. Prenatal diagnosis is also rare, and few cases have been reported using magnetic resonance imaging (MRI). A 35-year-old G5P2A2 woman at the 35th week of gestation was referred to our service. Fetal MRI showed an isointense image in the suprasellar region, pushing the brainstem up and backward, and compressing the vermis and cerebellum on T2-weighted images. On T1-weighted images, the hypointense signal of the tumor was similar to that of the brain parenchyma. Ultrasound images showed a suprasellar mass, which was more echogenic than the normal cerebral parenchyma, posteriorly pushing the brain stem, with involvement of the vermis of the tumor and compression of the posterior fossa. Three-dimensional reconstruction using MRI scan data showed a space view of the tumor and its relationships with the other brain tissues allowing better understanding by parents and multidisciplinary team., (© 2023. Società Italiana di Ultrasonologia in Medicina e Biologia (SIUMB).)

Background: In 2015, a quality improvement (QI) intervention to reduce cesarean sections (CS)-the Adequate Childbirth Project (PPA)-was implemented in the private sector in Brazil. This analysis aims to compare safety care measures and adverse outcomes between women exposed to the PPA intervention to those receiving standard care., Methods: The analysis included a convenience sample of 12 private hospitals that participated in the PPA (2017-2018). Data collection was performed through chart review and interviews. Differences in 15 outcomes were examined using Pearson's chi-square test and multiple logistic regressions., Results: The final weighted sample was comprised of 4789 births, 2570 in the PPA group (53.5%) and 2227 in the standard care group (46.5%). CS rate was significantly lower in the PPA group (67.3% vs 88.8%). After adjusting for potential confounders, PPA model was associated with decreased overall CS rate (OR = 0.30, 95% CI 0.24 to 0.36), as well as prelabor (OR = 0.41, 0.34 to 0.48) and repeated CS (OR = 0.45, 0.29 to 0.70). In terms of other safety care measures, women in the PPA model had an increased chance of absence of antibiotic prophylaxis in Group B Streptococcus (GBS) + women (OR = 4.63, 1.33 to 16.14) and for CSs (OR = 1.75, 1.38 to 2.22), while those with severe hypertension were less likely to not receiving magnesium sulphate (OR = 0.27, 0.09 to 0.77). Regarding obstetric and neonatal outcomes, PPA model was associated with a decreased chance of having an obstetric anal sphincter injury (OASI) following an episiotomy (OR = 0.34, 0.13 to 0.89), requiring antibiotics other than routine prophylaxis (OR = 0.84, 0.70 to 0.99), having a late preterm (OR = 0.36, 0.27 to 0.48) or early term baby (OR = 0.81, 0.70 to 0.94). There were no statistically significant differences for other outcomes., Conclusions: The PPA intervention was able to reduce CS rates, late preterm and early term deliveries without increasing the chance of adverse outcomes. The bidirectional effect on safety care measures reinforces that QI initiatives includes closer observation of routine care when implementing interventions to reduce C-section rates., (© 2023. The Author(s).)

A 57-year-old man was diagnosed with acute myocardial infarction and Stanford type A aortic dissection that had spread to the common iliac arteries. He underwent a Bentall procedure for vascular repair. Immediately after surgery, he developed numbness and severe weakness in his left leg. On examination, he had hypotonia, absent deep tendon reflexes, weakness in the left leg (Medical Research Council (MRC) scale for muscle strength - 0/5 distal, 3/5 proximal) and reduced sensation in the left leg. Electromyography confirmed subacute involvement of the left lumbar and lumbosacral plexus. MR scan of the lumbar plexus showed diffuse muscle oedema involving the left gluteus maximus. We diagnosed ischaemic lumbosacral plexopathy secondary to extensive aorta dissection and internal iliac artery occlusion. We discuss the clinical features of ischaemic plexopathy and the diagnostic approach and review the vascular anatomy of the lumbosacral plexus., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2023. No commercial re-use. See rights and permissions. Published by BMJ.)

Competing Interests: None to declare.

Competing Interests: The authors have no conflict of interests to declare.

Background: Ataxia with oculomotor apraxia (AOA) is characterized by early-onset cerebellar ataxia associated with oculomotor apraxia. AOA1, AOA2, AOA3, and AOA4 subtypes may present pathogenic variants in APTX, SETX, PIK3R5, and PNKP genes, respectively. Mutations in XRCC1 have been found to cause autosomal recessive spinocerebellar ataxia-26 (SCAR26) now considered AOA5., Objectives: To examine a cohort of Brazilians with autosomal recessive cerebellar ataxia plus oculomotor apraxia and determine the frequencies of AOA subtypes through genetic investigation., Methods: We evaluated clinical, biomarkers, electrophysiological, and radiological findings of 52 patients with AOA phenotype and performed a genetic panel including APTX, SETX, PIK3R5, PNKP, and XRCC1., Results: We found pathogenic variants in SETX (15 patients), PNKP (12), and APTX (5). No mutations in PIK3R5 or XRCC1 were identified., Conclusions: AOA2 and AOA4 were the most common forms of AOA in Brazil. Mutations in PIK3R5 and XRCC1 were not part of this genetic spectrum. © 2022 International Parkinson and Movement Disorder Society., (© 2022 International Parkinson and Movement Disorder Society.)

Background: Neurodegeneration affects the brain and peripheral nervous system in spinocerebellar ataxia type 3 (SCA3). As the retina is also involved, studying the retinal architecture in a cohort of patients could reveal clinically relevant biomarkers., Objective: The aim is to investigate retinal architecture in SCA3 to identify potential biomarkers., Methods: We evaluated 38 patients with SCA3 and 25 healthy age-matched controls, who underwent visual acuity assessment, intraocular pressure measurement, and fundoscopy and macular and peripapillary spectral domain optical coherence tomography (SD-OCT). We measured the peripapillary retinal nerve fiber layer (pRNFL) thickness in each quadrant of the temporal-superior-nasal-inferior-temporal chart and the macular layer thicknesses in each sector of the inner circle of the Early Treatment Diabetic Retinopathy Study (IC-ETDRS) grid. Linear regression analysis was employed to test the associations between retinal parameters and age, disease duration, CAG repeats, and SARA (Scale of the Assessment and Rating of Ataxia) and ICARS (International Cooperative Ataxia Rating Scale) scores in SCA3., Results: In all sectors, except for the temporal quadrant, pRNFL was significantly thinner in SCA3 patients than in controls. Average total macular, ganglion cell layer (GCL), and inner plexiform layer (IPL) thicknesses were significantly decreased in SCA3 patients in comparison to controls. The average total macular thickness and the average thicknesses of RNFL, GCL, and IPL negatively correlated with ICARS scores, whereas average GCL and IPL thicknesses negatively correlated with SARA scores., Conclusions: The retinal ganglion cells, their dendrites, and axons are selectively affected in SCA3 patients. The RNFL, GCL, and IPL thicknesses in SD-OCT correlate with the clinical phenotype and represent potential biomarkers for future clinical trials and natural history studies. © 2021 International Parkinson and Movement Disorder Society., (© 2021 International Parkinson and Movement Disorder Society.)

Objective:  To analyze the historical clinical outcomes of children with myelomeningocele (MMC) meeting the criteria for fetal surgery, but who underwent postnatal primary repair., Methods:  Data from children undergoing postnatal MMC repair between January 1995 and January 2015 were collected from the Neurosurgery Outpatient Clinic's medical records. Children were included if they had ≥ 1 year of postoperative follow-up and met the criteria for fetal surgery. The children's data were then stratified according to whether they received a shunt or not. The primary outcome was mortality, and secondary outcomes were educational delays, hospitalization, recurrent urinary tract infections (UTIs), and renal failure., Results:  Over the 20-year period, 231 children with MMC were followed up. Based on clinical data recorded at the time of birth, 165 (71.4%) qualify of fetal surgery. Of the 165 patients, 136 (82.4%) underwent shunt placement. The mortality rate was 5.1% in the group with shunt and 0% in the group without, relative risk (RR) 3.28 (95% confidence interval, 95% CI, 0.19-55.9). The statistically significant RRs for adverse outcomes in the shunted group were 1.86 (95% CI, 1.01-3.44) for UTI, 30 (95% CI, 1.01-537) for renal failure, and 1.77 (95% CI, 1.09-2.87) for hospitalizations., Conclusion:  Children with MMC qualifying for fetal surgery who underwent shunt placement were more likely to have recurrent UTIs, develop renal failure, and be hospitalized. Since approximately half of the shunt procedures could be avoided by fetal surgery, there is a clinical benefit and a possible financial benefit to the implementation of this technology in our setting., Competing Interests: The authors have no conflict of interests to declare., (Federação Brasileira de Ginecologia e Obstetrícia. This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/).)

Background: Biallelic loss-of-function NDUFA12 variants have hitherto been linked to mitochondrial complex I deficiency presenting with heterogeneous clinical and radiological features in nine cases only., Objectives: To fully characterize, both phenotypically and genotypically, NDUFA12 -related mitochondrial disease., Methods: We collected data from cases identified by screening genetic databases of several laboratories worldwide and systematically reviewed the literature., Results: Nine unreported NDUFA12 cases from six pedigrees were identified, with presentation ranging from movement disorder phenotypes (dystonia and/or spasticity) to isolated optic atrophy. MRI showed basal ganglia abnormalities ( n  = 6), optic atrophy ( n  = 2), or was unremarkable ( n  = 1). All carried homozygous truncating NDUFA12 variants, three of which are novel., Conclusions: Our case series expands phenotype-genotype correlations in NDUFA12 -associated mitochondrial disease, providing evidence of intra- and inter-familial clinical heterogeneity for the same variant. It confirms NDUFA12 variants should be included in the diagnostic workup of Leigh/Leigh-like syndromes - particularly with dystonia - as well as isolated optic atrophy., Competing Interests: Biological samples from pedigree C were collected as part of the SYNaPS Study Group collaboration funded by The Wellcome Trust and strategic award (Synaptopathies) funding (WT093205 MA and WT104033AIA) and research was conducted as part of the Queen Square Genomics group at University College London, supported by the National Institute for Health Research University College London Hospitals Biomedical Research Centre. Biological samples from pedigree D were collected as part of the project RAC# 2121053. Francesca Magrinelli is supported by the Edmond J. Safra Foundation and by the research grant “Fondo Gianesini” in collaboration with UniCredit Foundation and University of Verona, Italy. Robert W. Taylor is supported by the Wellcome Centre for Mitochondrial Research (203,105/Z/16/Z), the MRC International Centre for Genomic Medicine in Neuromuscular Disease (MR/S005021/1), Mitochondrial Disease Patient Cohort (UK) (G0800674), the UK NIHR Biomedical Research Centre for Aging and Age‐related disease award to the Newcastle upon Tyne Foundation Hospitals NHS Trust, The Lily Foundation, the Pathology Society and the UK NHS Highly Specialized Service for Rare Mitochondrial Disorders of Adults and Children. Kailash P. Bhatia has received grant support from Wellcome/MRC, NIHR, Parkinson's UK and EU Horizon 2020. Tobias B. Haack was supported by the Deutsche Forschungsgemeinschaft (DFG, German Research Foundation)—418081722, 433158657. Kate Sargeant thanks the UK NHS Specialist Commissioners, which funds the “Rare Mitochondrial Disease Service for Adults and Children” in Oxford for their support. The views expressed are those of the author(s) and not necessarily those of the NHS or the UK Department of Health and Social Care. Rita Horvath is a Wellcome Trust Investigator (109,915/Z/15/Z), who receives support from the Medical Research Council (UK) (MR/N025431/1 and MR/V009346/1), the European Research Council (309548), the Newton Fund (UK/Turkey, MR/N027302/1), the Addenbrookes Charitable Trust (G100142), the Evelyn Trust, the Stoneygate Trust, the Lily Foundation and an MRC strategic award to establish an International Centre for Genomic Medicine in Neuromuscular Diseases (ICGNMD) MR/S005021/1. This research was supported by the NIHR Cambridge Biomedical Research Centre (BRC‐1215‐20,014). The views expressed are those of the authors and not necessarily those of the NIHR or the Department of Health and Social Care. Henry Houlden is funded by The MRC (MR/S01165X/1, MR/S005021/1, G0601943), The National Institute for Health Research University College London Hospitals Biomedical Research Centre, Rosetree Trust, Ataxia UK, MSA Trust, Brain Research UK, Sparks GOSH Charity, Muscular Dystrophy UK (MDUK), Muscular Dystrophy Association (MDA USA). The authors declare that there are no conflicts of interest relevant to this work., (© 2021 The Authors. Movement Disorders Clinical Practice published by Wiley Periodicals LLC. on behalf of International Parkinson and Movement Disorder Society.)

Background: Spinocerebellar ataxia type 3 (SCA3) is the most common autosomal dominant spinocerebellar ataxia worldwide. Almost all patients with SCA3 exhibit nystagmus and/or saccades impairment., Objective: To investigate the presence of nystagmus as an early neurological manifestation, before ataxia, in some patients with SCA3 in the first six months of the disease., Methods: We evaluated a series of 155 patients with clinically and molecularly proven SCA3 between 2013 and 2020. Data regarding sex, age, age at onset, disease duration, CAG repeat expansion length, first symptom, presence of ataxia, scores on SARA and ICARS scales, and presence and characteristics of nystagmus were collected., Results: We identified seven patients with symptomatic SCA3 who presented with isolated nystagmus. In these seven individuals the age at onset ranged from 24 to 57 years, and disease duration from four to six months., Conclusions: Our study showed that nystagmus may be the first neurological sign in SCA3. This clinical observation reinforces the idea that the neurodegenerative process in SCA3 patients may start in vestibular system connections or in flocculonodular lobe. This study adds relevant information about pre-symptomatic features in SCA3 that may work as basis for a better understanding of brain degeneration and for future therapeutic clinical trials.

Background: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) causes unique retinal abnormalities, which have not been systematically investigated., Objective: To deeply phenotype the retina in ARSACS in order to better understand its pathogenesis and identify potential biomarkers., Methods: We evaluated 29 patients with ARSACS, 66 with spinocerebellar ataxia (SCA), 38 with autosomal recessive cerebellar ataxia (ATX), 22 with hereditary spastic paraplegia (SPG), 21 cases of papilledema, and 20 healthy controls (total n = 196 subjects). Participants underwent visual acuity assessment, intraocular pressure measurement, fundoscopy, and macular and peripapillary optical coherence tomography (OCT). Macular layers thicknesses in ARSACS were compared with those of age-matched healthy controls. Ophthalmologists analyzed the scans for abnormal signs in the different patient groups. Linear regression analysis was conducted to look for associations between retinal changes and age, age at onset, disease duration, and Scale for the Assessment and Rating of Ataxia (SARA) scores in ARSACS., Results: Only patients with ARSACS exhibited peripapillary retinal striations (82%) on fundoscopy, and their OCT scans revealed foveal hypoplasia (100%), sawtooth appearance (89%), papillomacular fold (86%), and macular microcysts (18%). Average peripapillary retinal nerve fiber layer (pRNFL) was thicker in ARSACS than in SCA, ATX, SPG, and controls; a cut-off of 121 μm was 100% accurate in diagnosing ARSACS. All macular layers were thicker in ARSACS when compared to healthy controls. RNFL thickness in the inferior sector of the macula positively correlated with SARA scores., Conclusions: Retinal abnormalities are highly specific for ARSACS, and suggest retinal hyperplasia due to abnormal retinal development. OCT may provide potential biomarkers for future clinical trials. © 2021 International Parkinson and Movement Disorder Society., (© 2021 International Parkinson and Movement Disorder Society.)

Motivation: The quantification of long-range correlation of electroencephalogram (EEG) signals is an important research direction for its relevance in helping understanding the brain activity. Epileptic seizures have been studied in the past years where different non-linear statistical approaches have been employed to understand the relationship between the EEG signal and the epileptic discharge. One of the most widely used method for to analyse long memory processes is the detrended fluctuation analysis (DFA). However, no objective and pragmatic methods have been developed to detect crossover points and reference channels in DFA., Results: In this article, we propose: (i) two automatic approaches that successfully detect crossover points in DFA related methods on the log-log plot and (ii) a criteria to choose the reference channel for the log-amplitude function. Moreover, the DFA is applied to EEG signals of 10 epileptic patients collected from the CHB-MIT database, being the log-amplitude function used to compare the different brain hemispheres by making use of the methodology proposed in the article. The existence of long-range power-law correlations is demonstrated and indicates that the EEG signals of epileptic patients present three well-defined regions with the first region showing a 1/f noise (pink noise) for seven subjects and a random walk behaviour for three subjects. The second and third regions show anti-persistence behaviour. Moreover, the results of the log-amplitude function were divided in two groups: the first, including seven subjects, where the increase in the scales results in an increase in the fluctuation in the frontal channels and the second, included three subjects, where the fluctuation for large scales are greater for the parietal channels., Availability and Implementation: The functions used in this article are available in the R package DFA (Mesquita et al., 2020)., Supplementary Information: Supplementary data are available at Bioinformatics online., (© The Author(s) 2020. Published by Oxford University Press. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.)

Background: Venolymphatic malformations are benign. Fetal MRI can more precisely demonstrate an infiltrative pattern of malformations than US., Objective: To evaluate perinatal outcomes and long-term follow-up of fetal venolymphatic malformations treated in different medical facilities using fetal MRI., Materials and Methods: This retrospective cohort study evaluated 20 pregnant women between 22 weeks and 37 weeks of gestation who were referred from different institutions. They presented with fetuses with various diagnoses of cystic masses on routine US. The cases were studied using MRI. We analyzed prenatal data, perinatal outcomes and long-term follow-up., Results: We reviewed the MRI scans of 20 patients with venolymphatic malformation. Referral diagnosis was changed in 40% (8/20) of cases, with postnatal concordance of 100% (20/20). Moreover, 65% (13/20) presented with venolymphatic malformation in more than one body segment. The neck was affected in 70% (14/20) of fetuses, while the head and thorax were affected in 30% (6/20) and 45% (9/20), respectively. There were intrathoracic lesions in 35% (7/20), lesions in the abdomen in 30% (6/20), and lesions in the perineum and extremities in 10% (2/20) each. Tracheal displacement, neck deflection and anatomical displacement caused by tumoral compression were present in 15% (3/20) of cases. Moreover, 25% (5/20) of newborns required neonatal intensive care unit admission, and all presented with cervical or thoracic venolymphatic malformation. Furthermore, 50% (10/20) of cases presented with complete resolution after medical therapy. The intrathoracic and cervical residuals (35%, 7/20) were monitored and treated., Conclusion: MRI showed good correlation with postnatal examination of venolymphatic malformation, was useful in the differential diagnosis of fetal cysts on US, and presented a significant postnatal correlation with thoracic infiltration. The outcomes of prenatally diagnosed venolymphatic malformations are good despite the varying protocols among medical facilities.

Background: The lateral lumbar interbody fusion (LLIF) was a revolutionary approach devised by Luiz Pimenta that allowed the surgeon to access the lumbar spine through the major psoas muscle. Although the traditional LLIF had enabled enormous advances, the technique has its drawbacks. A new concept to perform the traditional LLIF has been proposed, with the patient being prone to decubitus with slightly extended legs. Our study aims to analyze the early outcomes of patients who had undergone the prone transpsoas (PTP) for degenerative spine pathologies including the L4/5 level., Methods: This study was multicentric, retrospective, nonrandomized, noncomparative, and observational. Only participants who received PTP in L4/5, with no more than 3 levels of intersomatics and fixation no further than S1, were included. The primary outcomes were the onset of new neurologic deficits and postoperative complications. Also, surgery details, such as blood loss and surgery duration, were measured. Neurologic deficits were accessed at the postoperative visit, which ranged from 7 to 14 days after surgery., Results: Twenty-seven patients fulfilled the inclusion and exclusion criteria, with the majority receiving PTP only in L4/5 (66.6%). The mean surgery time was 182, with 29 minutes of mean transpsoas time. Of the patients, only 1 presented the onset of a motor deficit, while 3 patients presented a new sensory deficit. Five complications occurred, none intraoperative and 5 postoperative, with only 1 directly correlated with the access., Conclusions: The prone transpsoas is safe and feasible for approaching the L4/5 disk, presenting with a low rate of complication and new-onset neurologic deficits., (Copyright © 2021 Elsevier Inc. All rights reserved.)

Study Objective: To assess individual changes of deep dyspareunia (DDyspareunia) six months after laparoscopic nerve-sparing complete excision of endometriosis, with or without robotic assistance., Methods: This preplanned interdisciplinary observational study with a retrospective analysis of intervention enrolled 126 consecutive women who underwent surgery between January 2018 and September 2019 at a private specialized center. Demographics, medical history and surgery details were recorded systematically. DDyspareunia (primary outcome), dysmenorrhea and acyclic pelvic pain were assessed on self-reported 11-point numeric rating scales both preoperatively and at six-month follow-up. Cases with poor prognosis in relation to dyspareunia were described individually in greater detail., Results: Preoperative DDyspareunia showed weak correlation with dysmenorrhea (rho = .240; P = .014) and pelvic pain (rho = .260; P = .004). Although DDyspareunia improved significantly (P < .001) by 3 points or more in 75.8% (95%CI: 64.7-86.2) and disappeared totally in 59.7% of cases (95%CI:47.8-71.6), individual analysis identified different patterns of response. The probability of a preoperative moderate/severe DDyspareunia worsening more than 2 points was 4.8% (95%CI: 0.0-10.7) and the probability of a woman with no DDyspareunia developing "de novo" moderate or severe DDyspareunia was 7.7% (95%CI: 1.8-15.8) and 5.8% (95%CI: 0.0-13.0), respectively. In a qualitative analysis, several conditions were hypothesized to impact the post-operative DDyspareunia response; these included adenomyosis, mental health disorders, lack of hormone therapy after surgery, colporrhaphy, nodule excision in ENZIAN B compartment (uterosacral ligament/parametrium), the rectovaginal septum or the retrocervical region., Conclusion: Endometriosis surgery provides significant improvement in DDyspareunia. However, patients should be alerted about the possibility of unsatisfactory results., Competing Interests: The authors have declared that no competing interests exist.

Background and Objectives: Medical consultation by a specialist physician consists of an evaluation to review diagnosis and management of patients with some neurological conditions referred from other specialty wards. This mode of care delivery has gained relevance in the field of neurology and adequate training on it is valuable, allowing neurologists to provide state-of-the-art management to patients with neurological manifestations. The present study aimed to characterize neurology consults and to discuss the roles of the neurologist within a hospital setting., Methods: A prospective analysis of neurological consultations provided to inpatients of a university hospital in São Paulo, Brazil, was performed from September 2016 to September 2017. These patients were followed by the principal investigator, who was not involved in their care., Results: We evaluated data from 117 female and 106 male inpatients with a mean age of 53.8 ± 2.4. The medical specialties that most frequently requested neurological consultations were Internal Medicine (17%), Cardiology (11.2%) and Pulmonology (9.4%). The main reasons for a neurology consultation request were seizures (15.6%); decreased level of consciousness (8.9%) and confusion (7.1%). The most frequent diagnosis in patients receiving a neurology consult were stroke (10.2%); hypoxic-ischemic encephalopathy (5.3%) and sepsis (2.2%)., Conclusion: Our findings show the growing importance of the role of neurologists within hospital settings as many medical conditions present with neurological manifestations and the significance of the neurohospitalist model of care., Competing Interests: Declaration of Conflicting Interests: The authors declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article., (© The Author(s) 2020.)

Importance: Hypertrophic pachymeningitis (HP) is a non-usual manifestation of rheumatologic, infectious, and neoplastic diseases. Etiological diagnosis is a challenge, but when made promptly it creates a window of opportunity for treatment, with the possibility of a total reversal of symptoms., Observations: HP is an inflammatory process of the dura mater that can occur as a manifestation of sarcoidosis, granulomatosis with polyangiitis, and IgG4-related disease. The HP case evaluation is extensive and includes central nervous system imaging, cerebrospinal fluid analysis, serology, rheumatologic tests, and systemic survey for other manifestations sites. After systemic investigation, meningeal biopsy might be necessary. Etiology guides HP treatment, and autoimmune disorders are treated with corticosteroids alone or associated with an immunosuppressor., Conclusion: HP is a manifestation of several diseases, and a precise etiological diagnosis is crucial because of the difference among treatments. An extensive investigation of patients with HP helps early diagnosis and correct treatment.

Gastric cancer is among the ten most common types of cancer worldwide. Most cases and deaths related to the disease occur in developing countries. Local socio-economic, epidemiologic and healthcare particularities led us to create a Brazilian guideline for the management of gastric carcinomas. The Brazilian Group of Gastrointestinal Tumors (GTG) invited 50 physicians with different backgrounds, including radiology, pathology, endoscopy, nuclear medicine, genetics, oncological surgery, radiotherapy and clinical oncology, to collaborate. This document was prepared based on an extensive review of topics related to heredity, diagnosis, staging, pathology, endoscopy, surgery, radiation, systemic therapy and follow-up, which was followed by presentation, discussion, and voting by the panel members. It provides updated evidence-based recommendations to guide clinical management of gastric carcinomas in several scenarios and clinical settings., Competing Interests: The authors declare that there is no conflict of interest., (© the authors; licensee ecancermedicalscience.)