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This article discusses a case study of a rare condition called agnathia, which causes the absence of one or both jaws. The case involves a 32-year-old woman who experienced secondary infertility and was found to have an abnormal fetal ultrasound showing a hypoplastic or possibly absent mandible. Further testing confirmed the diagnosis of agnathia-otocephaly complex, a severe malformation characterized by agnathia, melotia, and microstomia with aglossia. The cause of agnathia is not well understood, but it is believed to involve both genetic and teratogenic factors. Genetic testing can provide further insight for counseling future pregnancies. [Extracted from the article]

- In a one year study period, 134 men presenting with retention of urine due to prostatic hypertrophy were catheterised and sent home, subsequently to be readmitted for prostatectomy. Their progress is compared with that of 176 men who underwent 'cold' prostatectomy during the same period. [ABSTRACT FROM AUTHOR]

Toxic shock syndrome secondary to Group A Streptococcus infection is a rare but serious cause of women's morbidity and mortality which can easily be misdiagnosed. A 37-year-old woman presented to the emergency department in a state of shock after a two-day history of abdominal pain, fever, diarrhoea and green vaginal discharge. Following extensive investigations, she was proved to have septic shock secondary to Group A Streptococcus pyogenes. Despite receiving intravenous antibiotics, she required explorative laparotomy, which proceeded to subtotal hysterectomy and bilateral salpingectomy. Subsequently, she developed multi-organ failure, disseminated intravascular coagulation, and limb ischemia requiring below-knee amputation of the right limb. She was discharged home. The aim of this report is to raise the awareness about toxic shock syndrome from Streptococcus pyogenes . A high index of suspicion is required to promptly diagnose this rare yet potentially fatal infection., (© 2024 The Authors. Published by Elsevier B.V.)

Objective: Neonatal seizures present significant treatment challenges, often requiring adjunctive antiseizure medications. This study aimed to evaluate the efficacy of lacosamide as an adjunctive antiseizure medication in managing refractory neonatal seizures., Methods: The study included neonates up to 44 weeks of corrected gestational age who received lacosamide treatment at a level 4 neonatal intensive care unit between January 2015 and December 2023. The collected data encompassed demographic features, birth history, perinatal/postnatal complications, seizure characteristics, and treatment details. The primary outcome was the response to lacosamide, assessed by changes in total seizure burden on electroencephalography (EEG). The cohort characteristics were compared between nonresponders and responders., Results: The final analysis was conducted on 18 neonates with available EEG data. Of all patients, 72% showed a favorable response to lacosamide treatment, as evidenced by a reduced seizure burden on EEG. The demographic and clinical characteristics of the neonates varied, including a range of seizure etiologies. Responder and nonresponder groups had no differences in clinical characteristics., Conclusion: This study suggests that lacosamide may be an effective adjunctive antiseizure medication in treating refractory neonatal seizures. Further prospective studies are warranted to confirm these findings and explore the long-term outcomes and safety profile of lacosamide in this vulnerable patient group.

We report a case of a 19-year-old woman with drug-resistant focal epilepsy whose typical seizure semiology involved sensations of déjà-vu. She underwent intracranial stimulation, leading to déjà-vu upon stimulation of the posterior cingulate cortex (PCC). Most reports of induced déjà-vu and epilepsy-associated déjà-vu emphasize networks including temporal lobe, especially the rhinal cortices, as the generator of this phenomenon. However, evidence from healthy individuals and those with confirmed cingulate epilepsy suggests that the PCC may play a role in some experiences of déjà-vu or other dreamy state phenomena. This case adds to the body of evidence suggesting a role for the PCC in déjà-vu. It also highlights the importance of including the PCC in intracranial investigations of some suspected temporal lobe epilepsies.

Background: Sexual harassment (SH) and Gender discrimination (GD) faced by medical students have been neglected areas of study in India. Only a few recent studies could be found, despite frequent media reports on SH and GD. This study aimed to assess the attitudes and perceptions of sexual harassment and gender discrimination and evaluate the forms of SH and GD experienced by them., Methods: A Google form based mixed method survey tool was distributed amongst students of 28 medical colleges in Maharashtra. Participants were assured of confidentiality and anonymity., Results: Of the 308 students who were eligible for the present study, 14.3% (44) and 26.6% (82) reported incidence of sexual harassment and gender discrimination, respectively, while 133 (43.2%) of them reported having experienced some or the other form of SH/GD. A wide range of instances of SH and GD were described by the students., Conclusions: The study highlights the need to create awareness about sexual harassment and gender discrimination amongst medical students, and to create an atmosphere where such abuses do not occur.

Design: A multi-centre randomised controlled trial was conducted with paediatric patients requiring crowns after pulp therapy. Participants were randomly divided into two groups: Stainless Steel Crown (SCC) (n = 28) and Resin Crown (RC) (n = 28). RCs were fabricated using a 3D printer with a standardised manufacturing process. The assessment was through periapical radiographs, photographs, quantitative light-induced fluorescence, impressions, and clinical assessment. Quigley-Hein plaque index (QHI), gingival index (GI), occlusal wear, and survival were evaluated., Case Selection: Participants were selected from two departments of paediatric dentistry at Yonsei University and Kyung Hee University of Dental College. Patients were between 4-7 years old. The tooth must require pulp therapy and crown, be in place for at least 2 years, and be in stable occlusion. Those with systemic illness, disability, poor cooperation, temporomandibular joint disorder, and bruxism were excluded., Data Analysis: Analysis was performed at 1 week, 3 months, 6 months and 12 months. QHI and GI were compared between the two groups. Shapiro-Wilk test was used to analyse the normal distribution of occlusal wear. Comparison was completed using Mann-Whitney U and independent t-tests. Survival rates were assessed using Kaplan-Meier analysis and log-rank tests., Results: Fifty-six teeth were included initially, with follow-up on 23 RCs and 25 SSCs due to failure or lack of attendance. RCs exhibited a statistically significant increase in wear, with mean root mean square (RMS) values of 0.064 (+/-0.02) at 3 months, 0.079 (+) at 6 months, and 0.125 (+/-0.05) at 12 months. Whereas SSCs demonstrated minimal wear, with mean RMS values ranging from 0.021 (+/-0.01) to 0.025 (+/-0.01). The QHI scores indicated no significant difference, except at 1 week where RC exhibited increased plaque. The GI scores for RCs were significantly higher at 12 months. The survival rate of RCs was significantly lower (82.1%) compared to SSCs (100%)., Conclusions: While RCs offer improved aesthetics over SSCs, they exhibit lower wear resistance and higher plaque accumulation and gingival inflammation. The survival rate of RCs is significantly lower due to fractures. The clinical effectiveness of RCs has not yet been established., (© 2024. The Author(s), under exclusive licence to British Dental Association.)

Background: Epilepsy surgery is an underutilized resource for children with drug-resistant epilepsy. Palliative and definitive surgical options can reduce seizure burden and improve quality of life. Palliative epilepsy surgery is often seen as a "last resort" compared to definitive surgical options. We compare patient characteristics between palliative and definitive epilepsy surgical patients and present palliative surgical outcomes from the Pediatric Epilepsy Research Consortium surgical database., Methods: The Pediatric Epilepsy Research Consortium Epilepsy Surgery database is a prospective registry of patients aged 0-18 years undergoing evaluation for epilepsy surgery at 20 pediatric epilepsy centers. We included all children with completed surgical therapy characterized as definitive or palliative. Demographics, epilepsy type, age of onset, age at referral, etiology of epilepsy, treatment history, time-to-referral/evaluation, number of failed anti-seizure medications (ASMs), imaging results, type of surgery, and postoperative outcome were acquired., Results: Six hundred forty patients undergoing epilepsy surgery were identified. Patients undergoing palliative procedures were younger at seizure onset (median: 2.1 vs 4 years, P= 0.0008), failed more ASM trials before referral for presurgical evaluation (P=<0.0001), and had longer duration of epilepsy before referral for surgery (P=<0.0001). During presurgical evaluation, patients undergoing palliative surgery had shorter median duration of video-EEG data collected (P=0.007) but number of cases where ictal data were acquired was similar between groups. The most commonly performed palliative procedure was corpus callosotmy (31%), followed by lobectomy (21%) and neuromodulation (82% responsive neurostimulation vs 18% deep brain stimulation). Palliative patients were further categorized into traditionally palliative procedures vs traditionally definitive procedures. The majority of palliative patients had 50% reduction or better in seizure burden. Seizure free outcomes were significantly higher among those with traditional definitive surgeries, 41% (95% confidence interval: 26% to 57%) compared with traditional palliative surgeries and 9% (95% confidence interval: 2% to 17%). Rate of seizure freedom was 46% at 24 months or greater of follow-up in the traditional definitive group., Conclusions: Patients receiving palliative epilepsy surgery trialed more ASMs, were referred later after becoming drug resistant, and had longer gaps between drug resistance and epilepsy surgery compared with patients undergoing definitive epilepsy surgery. The extent of surgical evaluation is impacted if surgery is thought to be palliative. A majority of palliative surgery patients achieved >50% seizure reduction at follow-up, both in groups that received traditionally palliative and traditionally definitive surgical procedures. Palliative surgical patients can achieve greater seizure control and should be referred to an epilepsy surgery center promptly after failing two appropriate anti-seizure medications., Competing Interests: Declaration of competing interest None., (Copyright © 2024 The Author(s). Published by Elsevier Inc. All rights reserved.)

Objectives: The main goal of presurgical evaluation in drug-resistant focal epilepsy is to identify a seizure onset zone (SOZ). Of the noninvasive, yet resource-intensive tests available, ictal single-photon emission computed tomography (SPECT) aids SOZ localization by measuring focal increases in blood flow within the SOZ via intravenous peri-ictal radionuclide administration. Recent studies indicate that geographic and center-specific factors impact utilization of these diagnostic procedures. Our study analyzed successful ictal SPECT acquisition (defined as peri-ictal injection during inpatient admission) using surgery-related data from the Pediatric Epilepsy Research Consortium (PERC) surgery database. We hypothesized that a high seizure burden, longer duration of video EEG monitoring (VEEG), and more center-specific hours of SPECT availability would increase the likelihood of successful ictal SPECT., Methods: We identified study participants (≤18 years of age) who underwent SPECT as part of their phase 1 VEEG from January 2018 to June 2022. We assessed association between ictal SPECT outcomes (success vs. failure) and variables including patient demographics, epilepsy history, and center-specific SPECT practices., Results: Phase 1 VEEG monitoring with ictal SPECT injection was planned in 297 participants and successful in 255 participants (85.86%). On multivariable analysis, the likelihood of a successful SPECT injection was higher in patients of non-Hispanic ethnicity (p = 0.040), shorter duration VEEG (p = 0.004), and higher hours of available SPECT services (p < 0.001). Higher seizure frequency (p = 0.033) was significant only in bivariate analysis. Patients treated at centers with more operational hours were more likely to experience pre-admission protocols prior to VEEG (p = 0.002)., Significance: There is inter-center variability in protocols and SPECT acquisition capabilities. Shorter duration of EEG monitoring, non-Hispanic ethnicity (when on private insurance), extended operational hours of nuclear medicine as noted on multivariate analysis and higher seizure frequency in bivariate analysis are strongly associated with successful ictal SPECT injection., Plain Language Summary: In pediatric patients with drug-resistant epilepsy, single-photon emission computed tomography (SPECT) scans can be helpful in localizing seizure onset zone. However, due to many logistical challenges described below, which include not only the half-life of the technetium isotope used to inject intravenously during a seizure (called the ictal SPECT scan) but also available nuclear scanner time in addition to the unpredictability of seizures, obtaining an ictal SPECT during a planned elective inpatient hospital stay is not guaranteed. Thus, as healthcare costs increase, planning a prolonged hospital stay during which an ictal SPECT scan is not feasible is not optimal. We leveraged our prospective surgery database to look at center-specific factors and patient-specific factors associated with an ictal SPECT injection in the first, pediatric-focussed, large-scale, multicenter, prospective, SPECT feasibility study. We found that longer availability of the scanner is the most important center-specific factor in assuring ictal SPECT injection. Although seizure frequency is an important patient-specific factor on bivariate analysis, this factor lost statistical significance when other factors like patient insurance status and video EEG duration were also considered in our multivariable logistical model., (© 2024 The Author(s). Epilepsia Open published by Wiley Periodicals LLC on behalf of International League Against Epilepsy.)

Data Sources: A systematic review following Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines was conducted. PubMed and Cochrane databases were searched., Study Selection: Journal articles published between January 2007 and January 2023 were identified. Studies that assessed malocclusion indices and oral function were included. Non-English articles and irrelevant studies were excluded. A total of 480 articles were identified. Following exclusion, 29 articles were included in the systematic review., Data Extraction and Synthesis: Data was compiled using Microsoft Excel. Information from each article was extracted including study design, evaluation criteria of malocclusion and oral function, and findings. Studies were assessed using the STROBE GRADE approach. The results were compiled in a brief narrative review investigating the type and strength of the association between malocclusion and ingestion., Results: Malocclusion was recorded using Index of Treatment Need, Dental Aesthetic Index, Goslon Yardstick Index, Index of Complexity Outcomes and Need, Peer Assessment Rating, Angle's classification, Specific Severity Score, dental inter-arch relation and cephalometric analysis. Ingestion was measured by bite force, electromyography, mixing ability index, bolus granulometric analysis, video analysis of kinetic parameters during mastication, and subjective questionnaires. Of the 29 articles identified, 20 demonstrated a negative impact of malocclusion on oral ingestion, highlighting impaired masticatory efficiency, bite force and subjective difficulties. Eight studies found no significant association. One study, which used two questionnaires, found a significant relationship between eating and malocclusion using one questionnaire but not the other., Discussion: Limitations in current research methodologies were identified, particularly the heterogeneity in assessment tools. The indicators used to assess ingestion and malocclusion are flawed, with questionable reliability. No study was able to identify which features or severity of malocclusion impact ingestion. The relationship between ingestion and malocclusion could not be quantified and the need for longitudinal and case report studies was deemed essential to establish causality., Conclusion: This review underscores the importance of considering how malocclusion impacts function in orthodontic treatment planning. Future research should focus on standardised assessment methods for measuring malocclusion and oral ingestion to establish the nature of the relationship between the two. This will ultimately guide orthodontic intervention aiming to enhance oral function., (© 2024. The Author(s), under exclusive licence to British Dental Association.)

Introduction: Wada test is well-known to assess lateralization of memory and language functions; however, super-selective Wada (ss-Wada) to evaluate motor leg function is rare. We present a ss-Wada test within the anterior cerebral artery (ACA) to assess the motor function of the leg., Methods: Retrospective chart review., Results: Comprehensive phase-I/II surgical evaluation revealed an ictal focus around the left post-central gyrus with immediate involvement around the left para-central regions. To avoid potential right leg motor dysfunction with the surgery, the patient underwent a ss-Wada procedure. Angiography revealed bilateral ACAs were supplied by the left A1 segment. Super-selective microcatheter injection of amobarbital into the left ACA was performed to avoid cross-filling the contralateral ACA. The ss-Wada test confirmed no right leg motor impairment. Afterward, a craniotomy with direct cortical stimulation confirmed that the left-sided ictal/peri-ictal zone had no clear leg motor function. The patient underwent disconnection of that region and remained seizure-free at 10-month post-op follow-up without any motor or sensory deficits in the right limbs., Conclusion: This case demonstrates the proof of concept for ss-Wada in assessing lower extremity motor function. The ss-Wada procedure accurately predicted no motor deficits in the right leg, consistent with preserved motor function post-surgery., (© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Background: The COVID-19 pandemic has brought significant mental health challenges, particularly for vulnerable populations, including non-binary gender individuals. The COMET international study aimed to investigate specific risk factors for clinical depression or distress during the pandemic, also in these special populations., Methods: Chi-square tests were used for initial screening to select only those variables which would show an initial significance. Risk Ratios (RR) were calculated, and a Multiple Backward Stepwise Linear Regression Analysis (MBSLRA) was followed with those variables given significant results at screening and with the presence of distress or depression or the lack of both of them., Results: The most important risk factors for depression were female (RR = 1.59-5.49) and non-binary gender (RR = 1.56-7.41), unemployment (RR = 1.41-6.57), not working during lockdowns (RR = 1.43-5.79), bad general health (RR = 2.74-9.98), chronic somatic disorder (RR = 1.22-5.57), history of mental disorders (depression RR = 2.31-9.47; suicide attempt RR = 2.33-9.75; psychosis RR = 2.14-10.08; Bipolar disorder RR = 2.75-12.86), smoking status (RR = 1.15-5.31) and substance use (RR = 1.77-8.01). The risk factors for distress or depression that survived MBSLRA were younger age, being widowed, living alone, bad general health, being a carer, chronic somatic disorder, not working during lockdowns, being single, self-reported history of depression, bipolar disorder, self-harm, suicide attempts and of other mental disorders, smoking, alcohol, and substance use., Conclusions: Targeted preventive interventions are crucial to safeguard the mental health of vulnerable groups, emphasizing the importance of diverse samples in future research., Limitations: Online data collection may have resulted in the underrepresentation of certain population groups., Competing Interests: Declaration of competing interest None pertaining to the current paper., (Copyright © 2024. Published by Elsevier B.V.)

Background: The prevalence of medical illnesses is high among patients with psychiatric disorders. The current study aimed to investigate multi-comorbidity in patients with psychiatric disorders in comparison to the general population. Secondary aims were to investigate factors associated with metabolic syndrome and treatment appropriateness of mental disorders., Methods: The sample included 54,826 subjects (64.73% females; 34.15% males; 1.11% nonbinary gender) from 40 countries (COMET-G study). The analysis was based on the registration of previous history that could serve as a fair approximation for the lifetime prevalence of various medical conditions., Results: About 24.5% reported a history of somatic and 26.14% of mental disorders. Mental disorders were by far the most prevalent group of medical conditions. Comorbidity of any somatic with any mental disorder was reported by 8.21%. One-third to almost two-thirds of somatic patients were also suffering from a mental disorder depending on the severity and multicomorbidity. Bipolar and psychotic patients and to a lesser extent depressives, manifested an earlier (15-20 years) manifestation of somatic multicomorbidity, severe disability, and probably earlier death. The overwhelming majority of patients with mental disorders were not receiving treatment or were being treated in a way that was not recommended. Antipsychotics and antidepressants were not related to the development of metabolic syndrome., Conclusions: The finding that one-third to almost two-thirds of somatic patients also suffered from a mental disorder strongly suggests that psychiatry is the field with the most trans-specialty and interdisciplinary value and application points to the importance of teaching psychiatry and mental health in medical schools and also to the need for more technocratically oriented training of psychiatric residents.

Purpose: Around 11% of patients with absence epilepsy develop drug-resistant absence epilepsy (DRAE), and are at increased risk for developing psychiatric and neurologic comorbidities. Current therapeutic options for DRAE are limited. The purpose of this study was to assess the efficacy of vagus nerve stimulation (VNS) in treating DRAE., Methods: Our institution maintains a database of patients who received VNS between 2010 and 2022. We identified DRAE patients who were <18 years of age at seizure onset, were electro-clinically diagnosed with an absence epilepsy syndrome (childhood absence, juvenile absence, or Jeavons Syndrome) by an epileptologist, and had normal brain imaging. The primary outcome measure was post-VNS absence seizure frequency., Results: Twenty-six patients (M/F:14/12) were identified. Median age at seizure onset was 7 years (IQR 4-10) and patients experienced seizures for 6 years (IQR 4.3-7.6) before VNS. After VNS, the median absence seizure frequency reduced to 1.5 days (IQR 0.1-3.5) per week from 7 days (IQR 7-7), a 66% reduction seizure frequency. VNS responder rate was 80%, and seven patients achieved seizure freedom. There was no significant effect on VNS efficacy between the time from DRAE diagnosis to VNS placement (p = 0.067) nor the time from first seizure onset to VNS implant (p = 0.80). The median follow-up duration was 4.1 years (IQR 2.4-6.7), without any significant association between follow-up duration and VNS efficacy (r 2 =0.023) CONCLUSIONS: VNS is effective in managing DRAE. The responder rate was 80%; seizure improvement was independent of age at both seizure onset and latency to VNS after meeting DRAE criteria., Competing Interests: Declaration of competing interest All authors declare that they have no conflict of interests., (Copyright © 2024 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.)

Design: This study is an observational prospective longitudinal cohort study, following 102 children aged 1 to 12 months over a period of 24 months. At baseline, a dental examination was carried out to assess the number of carious lesions present using the ICDAS system, and a saliva sample was taken to assess the levels of Streptococcus mutans (SM) in saliva using the Dentocult SM saliva strip. Cohort caregivers received toothbrushing instruction and a 25% xylitol toothpaste tube for which they were instructed to use twice a day over a 3-month period, after which they returned to clinic at Pristina University to receive another tube. This process continued throughout the entire 24-month study period. At the end of the study, SM prevalence was recorded again., Cohort Selection: 102 children and their mothers were included in this study: 43 girls and 59 boys. At the beginning of the study, the child's mean age was 6.7 months, and at the end, 30.8 months. A random sample of 60 mothers was selected to analyse SM levels., Data Analysis: The data set was summarised descriptively using summary statistics, percentages and statistical tests. Values were expressed as a mean and standard deviation. SM prevalence comparison between baseline and endpoint was tested using chi-square statistics., Results: At the baseline dental examination, the child's mean age was 6.7 (±3.7 months). At this point 59% of the 102 infants were edentulous. Caries was reported to be present in 12.4% of children. The mean ICDAS score was calculated as 0.70 (2.42 SD). When caries was present (87.6% of the 102 children included in the study), the majority of the caries experience (74.2%) was determined as at an early stage (ICAS score 1 or 2). 72.6% (n = 74/102) of children were infected with SM at baseline. 28 children had Level 1 (0) SM. 57 children had Level 2 and 3 (102-4) SM. 17 children had Level 4 SM (≥105) SM. The SM categorical distribution was statistically significant (p = 0.02). At endpoint, 53.5% (57/102) of children were SM infected. Parallel comparison of pre- and post-data sets show that there was a 19.1% reduction in SM levels overall following the introduction of the xylitol toothpaste. (p = 0.002). In the participant group with the highest SM level (Level 4), a net 12.2% reduction in SM prevalence occurred. The change in SM infection was deemed statistically significant., Conclusions: Brushing twice a day with toothpaste containing 25% xylitol shows a statistically significant decrease in SM levels. This shows a promising anticariogenic effect. Late SM colonisation is protective for future carious lesions. Xylitol can help prevent early childhood caries and early SM contamination., (© 2024. The Author(s), under exclusive licence to British Dental Association.)

Objectives: Corpus callosotomy (CC) is used to reduce seizures, primarily in patients with generalized drug-resistant epilepsy (DRE). The invasive nature of the procedure contributes to underutilization despite its potential superiority to other palliative procedures. The goal of this study was to use a multi-institutional epilepsy surgery database to characterize the use of CC across participating centers., Methods: Data were acquired from the Pediatric Epilepsy Research Consortium (PERC) Surgery Database, a prospective observational study collecting data on children 0-18 years referred for surgical evaluation of DRE across 22 U.S. pediatric epilepsy centers. Patient, epilepsy, and surgical characteristics were collected across multiple CC modalities. Outcomes and complications were recorded and analyzed statistically., Results: Eighty-three patients undergoing 85 CC procedures at 14 participating epilepsy centers met inclusion criteria. Mean age at seizure onset was 2.3 years (0-9.4); mean age for Phase I evaluation and surgical intervention were 9.45 (.1-20) and 10.46 (.2-20.6) years, respectively. Generalized seizure types were the most common (59%). Complete CC was performed in 88%. The majority of CC procedures (57%) were via open craniotomy, followed by laser interstitial thermal therapy (LiTT) (20%) and mini-craniotomy/endoscopic (mc/e) (22%). Mean operative times were significantly longer for LiTT, whereas mean estimated blood loss was greater in open cases. Complications occurred in 11 cases (13%) and differed significantly between surgical techniques (p < .001). There was no statistically significant difference in length of postoperative stay across approaches. Mean follow-up was 12.8 months (range 1-39). Favorable Engel outcomes were experienced by 37 (78.7%) of the patients who underwent craniotomy, 10 (58.8%) with LiTT, and 12 (63.2%) with mc/e; these differences were not statistically significant., Significance: CC is an effective surgical modality for children with DRE. Regardless of surgical modality, complication rates are acceptable and seizure outcomes generally favorable. Newer, less-invasive, surgical approaches may lead to increased adoption of this efficacious therapeutic option for pediatric DRE., (© 2023 International League Against Epilepsy.)

Objective: This study assesses current practices and outcomes of epilepsy surgery in children with a genetic etiology. It explores the pre-surgical workup, types of surgeries, and post-surgical outcomes in a broad array of disorders., Methods: Patients ≤18 years who completed epilepsy surgery and had a known genetic etiology prior to surgical intervention were extrapolated from the Pediatric Epilepsy Research Consortium (PERC) surgery database, across 18 US centers. Data were assessed univariably by neuroimaging and EEG results, genetic group (structural gene, other gene, chromosomal), and curative intent. Outcomes were based on a modified International League Against Epilepsy (ILAE) outcome score., Results: Of 81 children with genetic epilepsy, 72 % had daily seizures when referred for surgery evaluation, which occurred a median of 2.2 years (IQR 0.3, 5.2) after developing drug resistance. Following surgery, 68 % of subjects had >50 % seizure reduction, with 33 % achieving seizure freedom [median follow-up 11 months (IQR 6, 17). Seizure freedom was most common in the monogenic structural group, but significant palliation was present across all groups. Presence of a single EEG focus was associated with a greater likelihood of seizure freedom (p=0.02)., Significance: There are meaningful seizure reductions following epilepsy surgery in the majority of children with a genetic etiology, even in the absence of a single structural lesion and across a broad spectrum of genetic causes. These findings highlight the need for expedited referral for epilepsy surgery and support of a broadened view of which children may benefit from epilepsy surgery, even when the intent is palliative., Competing Interests: Declaration of Competing Interest Allyson Alexander, MD is a consultant for NuXceland. All additional authors report no declarations of interest., (Copyright © 2023 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.)

A man in his 60s undergoing liver transplant assessment was referred to the respiratory team after a thoracic CT scan revealed diffuse tree-in-bud changes. He had a history of infertility, chronic pancreatitis and liver cirrhosis with portal hypertension. Broncho-alveolar lavage was positive for Pseudomonas aeruginosa Genetic screening found two cystic fibrosis transmembrane conductance regulator variants: Phe508del and Arg117His-7T. The patient was referred to the regional cystic fibrosis (CF) centre for follow-up but died from hepatobiliary complications. The atypical presentation with relatively late onset of pulmonary disease and hepatobiliary disease predominance created a diagnostic challenge. This case is a reminder that while CF is a monogenic disorder, its manifestation, natural history and extent can be highly variable. Taking a thorough medical history of any chronic illness is essential, and patients with the appropriate clinical presentation, regardless of age, should be investigated for CF., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2023. No commercial re-use. See rights and permissions. Published by BMJ.)