Creating and Testing a New Computer Vision System for Detecting Dental Problems in Orthodontic Patients.

Aim: The research project focuses on the creation and assessment of an innovative computer vision system designed to identify dental irregularities in individuals undergoing orthodontic treatment. Materials and Methods: To establish the computer vision system, a comprehensive dataset of dental images was collected, encompassing various orthodontic cases. The system's algorithm was trained to recognize patterns indicative of common dental anomalies, such as malocclusions, spacing issues, and misalignments. Rigorous testing and refinement of the algorithm were conducted to enhance its accuracy and reliability. Results: The validation of the system was carried out using the dental records and images of the 40 patients. The computer vision system's performance was evaluated against assessments made by experienced orthodontists. The results demonstrated a commendable level of concurrence between the system's automated detections and the orthodontists' evaluations, suggesting its potential as a valuable diagnostic tool. Conclusion: In conclusion, the development and validation of this novel computer vision system exhibit promising outcomes in its ability to automatically detect dental anomalies in orthodontic patients.

Ozone: An Adjunct in Dental Treatment.

Ozone is utilized in dentistry as ozonated oils, ozonated water, and gaseous ozone. The application of ozone in all specialties of dentistry has been demonstrated to be biocompatible. It has been demonstrated to encourage the remineralization of recently carious teeth, and it is utilized in dental caries and intracanal irrigants in endodontic treatment. Herpes virus infection, avascular osteonecrosis of the jaw, and alveolitis have all been treated with it. It can be applied as a supplement in the surgical and ongoing stages of periodontal disease and also hinders plaque formation. The purpose of the present review article is to discuss the numerous application of ozone in dentistry.

Transforming Pharmaceutical Synthesis with Sein-E-B Nanocomposite Photocatalyst through 1,4-NAD(P)H Cofactor Regeneration and C-N Bond Activation.

The need for sunlight chemical renewal and contemporary organic transformation has fostered the advancement of environmentally friendly photocatalytic techniques. For the first time, we report on the novel crafting of a bright future with selenium-infused Eosin-B (Sein-E-B) nanocomposite photocatalysts in this work. The Sein-E-B nanocomposite materials were created using a hydrothermal process for solar chemical regeneration and organic transformation under visible light. The synthesized samples were subjected to UV-DRS-visible spectroscopy, FT-IR, SEM, EDX, EIS and XRD analysis. The energy band gap of the Sein-E-B nanocomposite photocatalyst was measured using UV-DRS, and the result was around 2.06 eV. to investigate the generated Sein-E-B catalytic activity as a nanocomposite for 1,4-NADH/NADPH re-formation and C-N bond activation. This novel photocatalyst offers a promising alternative for the regeneration of solar chemicals and C-N bond creation between pyrrole and aryl halides.

Key elements and contextual factors that influence successful implementation of large-system transformation initiatives in the New Zealand health system: a realist evaluation.

BACKGROUND: Despite three decades of policy initiatives to improve integration of health care, delivery of health care in New Zealand remains fragmented, and health inequities persist for Maori and other high priority populations. An evidence base is needed to increase the chances of success with implementation of large-system transformation (LST) initiatives in a complex adaptive system. METHODS: This research aimed to identify key elements that support implementation of LST initiatives, and to investigate contextual factors that influence these initiatives. The realist logic of enquiry, nested within the macro framing of complex adaptive systems, formed the overall methodology for this research and involved five phases: theory gleaning from a local LST initiative, literature review, interviews, workshop, and online survey. NVivo software programme was used for thematic analysis of the interview, workshop, and the survey data. We identified key elements and explained variations in success (outcomes) by identifying mechanisms triggered by various contexts in which LST initiatives are implemented. RESULTS: The research found that a set of 10 key elements need to be present in the New Zealand health system to increase chances of success with implementation of LST initiatives. These are: (i) an alliancing way of working; (ii) a commitment to te Tiriti o Waitangi; (iii) an understanding of equity; (iv) clinical leadership and involvement; (v) involved people, whanau, and community; (vi) intelligent commissioning; (vii) continuous improvement; (viii) integrated health information; (ix) analytic capability; and (x) dedicated resources and time. The research identified five contextual factors that influenced implementation of LST initiatives: a history of working together, distributed leadership from funders, the maturity of Alliances, capacity and capability for improvement, and a continuous improvement culture. The research found that the key mechanism of trust is built and nurtured over time through sharing of power by senior health leaders by practising distributed leadership, which then creates a positive history of working together and increases the maturity of Alliances. DISCUSSION: Two authors (KMS and PBJ) led the development and implementation of the local LST initiative. This prior knowledge and experience provided a unique perspective to the research but also created a conflict of interest and introduced potential bias, these were managed through a wide range of data collection methods and informed consent from participants. The evidence-base for successful implementation of LST initiatives produced in this research contains knowledge and experience of senior system leaders who are often in charge of leading these initiatives. This evidence base enables decision makers to make sense of complex processes involved in the successful implementation of LST initiatives. CONCLUSIONS: Use of informal trust-based networks provided a critical platform for successful implementation of LST initiatives in the New Zealand health system. Maturity of these networks relies on building and sustaining high-trust relationships among the network members. The role of local and central agencies and the government is to provide the policy settings and conditions in which trust-based networks can flourish. OTHER: This study was approved by the Victoria University of Wellington Human Ethics Committee (Ethics Approval Number 27,356). The research was supported by the Victoria University of Wellington research grant (222,809) and from the University of Auckland Department of Medicine research fund (H10779).

Specialist healthcare services for concussion/mild traumatic brain injury in England: a consensus statement using modified Delphi methodology.

OBJECTIVE: To establish a consensus on the structure and process of healthcare services for patients with concussion in England to facilitate better healthcare quality and patient outcome. DESIGN: This consensus study followed the modified Delphi methodology with five phases: participant identification, item development, two rounds of voting and a meeting to finalise the consensus statements. The predefined threshold for agreement was set at ≥70%. SETTING: Specialist outpatient services. PARTICIPANTS: Members of the UK Head Injury Network were invited to participate. The network consists of clinical specialists in head injury practising in emergency medicine, neurology, neuropsychology, neurosurgery, paediatric medicine, rehabilitation medicine and sports and exercise medicine in England. PRIMARY OUTCOME MEASURE: A consensus statement on the structure and process of specialist outpatient care for patients with concussion in England. RESULTS: 55 items were voted on in the first round. 29 items were removed following the first voting round and 3 items were removed following the second voting round. Items were modified where appropriate. A final 18 statements reached consensus covering 3 main topics in specialist healthcare services for concussion; care pathway to structured follow-up, prognosis and measures of recovery, and provision of outpatient clinics. CONCLUSIONS: This work presents statements on how the healthcare services for patients with concussion in England could be redesigned to meet their health needs. Future work will seek to implement these into the clinical pathway.

Cardiac arrhythmia detection using cross-sample entropy measure based on short and long RR interval series.

Background: Accurate arrhythmia (atrial fibrillation (AF) and congestive heart failure (CHF)) detection is still a challenge in the biomedical signal-processing field. Different linear and nonlinear measures of the electrocardiogram (ECG) signal analysis are used to fix this problem. Methods: Sample entropy (SampEn) is used as a nonlinear measure based on single series to detect healthy and arrhythmia subjects. To follow this measure, the proposed work presents a nonlinear technique, namely, the cross-sample entropy (CrossSampEn) based on two series to quantify healthy and arrhythmia subjects. Results: The research work consists of 10 records of normal sinus rhythm, 20 records of Fantasia (old group), 10 records of AF, and 10 records of CHF. The method of CrossSampEn has been proposed to obtain the irregularity between two same and different R-R (R peak to peak) interval series of different data lengths. Unlike the SampEn technique, the CrossSampEn technique never awards a 'not defined' value for very short data lengths and was found to be more consistent than SampEn. One-way ANOVA test has validated the proposed algorithm by providing a large F value and p < .0001. The proposed algorithm is also verified by simulated data. Conclusions: It is concluded that different RR interval series of approximate 1500 data points and same RR interval series of approximate 1000 data points are required for health-status detection with embedded dimensions, M = 2 and threshold, r = .2. Also, CrossSampEn has been found more consistent than Sample entropy algorithm.

A Comparative Evaluation of Soft and Hard Tissue Changes Around Dental Implants Placed With and Without Platelet-Rich Fibrin.

BACKGROUND: A patient's ability to maintain a healthy bone-implant interface seems to be a major predictor of implant longevity over the long term. The implant surface is protected from the oral environment, the bone, and the implant itself by the peri-implant tissues. Platelet-rich fibrin (PRF) has been shown to help in the regeneration of bone and other connective tissues. Since there has been inadequate information on the role of PRF in maintaining soft tissue integrity and crestal bone changes, the present study aimed to evaluate these challenges clinically and radiographically in human patients who had dental implants placed with PRF. MATERIALS AND METHODS: There were a total of 15 patients who were recalled for the analysis, and they were split into two groups. PRF was used to complete the implant procedure in the experimental group, but PRF was not used in the control group. Cone beam computed tomography (CBCT) was used to evaluate the amount of alveolar bone prior to dental implant placement and intra-oral periapical radiograph (IOPAR) for postoperative assessment. Gingival index, plaque index, probing depths, papilla bleeding index, and crestal bone changes were used to document clinical limits. IOPAR using a similar approach was used to evaluate the crestal bone level alterations. Patients were evaluated clinically and radiographically for changes in the peri-implant soft tissue and crestal bone during implant placement, six and nine months postoperatively. RESULTS: From baseline (p=0.02) to six months (p=0.04) and nine months (p=0.04), both groups showed changes in crestal bone loss and soft tissue although the changes in the test group were smaller. Soft tissue changes showed significant differences for probing depth and papilla index score at baseline and at the end of the six and nine months (p<0.05), whereas no significant difference was noted with bleeding index and plaque index score during the follow-up (p>0.05). CONCLUSION:  To conclude, the provided data demonstrated that the local injection of PRF during implant placement has the potential to favorably stimulate bone formation, and may be used as a therapeutic adjuvant in the clinical setting of implant placement.

Misadventure of an Unsafe Abortion.

We are presenting a case of complicated unsafe abortion that landed in sepsis. A 21-year-old morbidly febrile but conscious female patient was brought on a stretcher by her attendants in the Gynecology emergency room. A foul fecal stench was coming from her body. On detailed and sympathetic questioning, the patient revealed she underwent an abortion by a local birth attendant in her village at 19 weeks of pregnancy. After that, she had pain abdomen, intermittent bleeding per vagina, difficulty in passing stool, loss of appetite, and fever. She took some local treatment but her condition gradually deteriorated and fecal-smelling vaginal discharge started. The patient was immediately shifted to the Intensive Care Unit. The decision for laparotomy was made by the team of gynecologists and surgeons as the patient's condition was not improving. During laparotomy, fetal parts present in the paracolic gutter were taken out. Post laparotomy, the patient was shifted to ICU, and her condition gradually improved then she was shifted to the recovery ward after five days.

Renin Angiotensin System as a Potential Treatment Target for Traumatic Brain Injury: A Systematic Review and Meta-Analysis.

Traumatic brain injury (TBI) is a major health concern and leading cause of death and disability in young adults in the United Kingdom and worldwide; however, there is a paucity of disease modifying therapies for the treatment of TBI. This review investigates the potential of the renin-angiotensin system (RAS) as a treatment pathway for TBI in adults. Relevant electronic databases were searched on December 18, 2019, and updated May 16, 2021. All English language articles with adult human or animal populations investigating RAS drugs as an intervention for TBI or reporting genetic evidence relevant to the RAS and TBI were screened. Eighteen pre-clinical randomized controlled trials (RCTs) (n = 2269) and two clinical cohort studies (n = 771) were included. Meta-analyses of six pre-clinical RCTs (n = 99) indicated that candesartan improved neurological function over the short term (< 7 days: standardized mean difference [SMD] 0.61, 95% confidence interval [CI] 0.19-1.03, I2 = 0%) and over the long term (≥ 7 days: SMD 1.06, 95% CI 0.38; 1.73, I2 = 0%) post-TBI. Findings were similar for most secondary outcomes. There was a suggestion of benefit from other RAS-targeting drugs, although evidence was limited because there were few small studies. There was insufficient evidence to enable strong assessment of these drugs on mortality post-TBI. We conclude that angiotensin-receptor blockers, especially candesartan, show positive outcomes post-TBI in pre-clinical studies with moderate quality of evidence (Grading of Recommendations Assessment, Development and Evaluation [GRADE]). More research into the effect of regulatory-RAS targeting drugs is needed. Clinical trials of candesartan following TBI are recommended, because there is strong and consistent evidence of neuroprotection shown by these pre-clinical studies.

Assessment of White Spots with Quantitative Light-Induced Fluorescence in Patients Undergoing Fixed Orthodontics.

BACKGROUND: The present study determined white spots with the help of quantitative light-induced fluorescence (QLF) in patients undergoing fixed orthodontics. MATERIALS AND METHODS: Sixty-four patients undergoing fixed orthodontics above 12 years underwent debonding, and the presence of carious lesion was assessed at baseline and after 6 weeks, 6 months, and 2 years. QLF images were taken with intraoral fluorescence camera. QLF images were examined visually for signs of demineralization, and scoring system was used. RESULTS: It is found that there was fluorescence loss over a period of time. The median sum of fluorescence loss per patient was 55.6% and 29.2% and 101.4% at quartiles at baseline which changed to 51.2% and 26.5% at the first quartile and 101.4% at the second quartile. At 2 years, it was 43.7% and at the first quartile was 22.1% and at the second quartile was 99.1%. There was significant improvement at T2 (P < 0.05), however, between baseline and F1 and between F1 and F2, there was nonsignificant improvement (P > 0.05). The median value for total lesion area per patient was 3.6 mm2 with quartiles 1.2 mm2 and 8.2 mm2 at baseline, 2.6 mm2 with quartiles 0.7 mm2 and 6.3 mm2 at 6 weeks, 2.3 mm2 with quartiles 0.7 mm2 and 6.3 mm2 at 6 months, and 1.8 mm2 with quartiles 0.5 mm2 and 5.8 mm2 at 2 years which was statistically significant (P < 0.05). CONCLUSION: The authors found that white spots during fixed orthodontic treatment and after debonding is a common phenomenon. Although there was improvement in disappearance of these lesions, complete removal cannot be ensured.

Comparative Evaluation of Shear Bond Strength of Brackets Bonded with self Etch Primer/Adhesive and Conventional Etch/Primer and Adhesive System.

INTRODUCTION: The shear bond strength obtained with an acid primer might not be clinically reliable. The present study evaluated the use of a new self-etch primer as compared with the conventional bonding procedure. The findings indicated that the use of a self-etch primer to bond orthodontic brackets to the namel surface provided lower, but clinically accept-able, shear bond forces (mean, 7.1 ± 4.4 MPa). Hence, this study has been designed to evaluate the shear bond strength of orthodontic brackets bonded with a self-etching primer system, and compare it with the conventional acid etching priming system. MATERIALS AND METHODS: This study was designed to compare the shear bond strength of orthodontic brackets bonded with conventional acid etching- priming and a self-etching primer. For this purpose, one hundred and twenty noncarious, not subjected to any pretreatment chemical agents (e.g. hydrogen peroxide), no cracks caused by the presence of the extraction forceps, no caries and unrestored human maxillary 1st and 2nd premolars, freshly extracted for orthodontic treatment were collected and stored in distilled water before bonding. Separate molds of cold-cure acrylic were prepared and the extracted premolar teeth were embedded in the cold cure acrylic up to the cement enamel junction. RESULTS: For the control group, the mean shear bond strength was 9.38 ± 6.02 MPa and for the experimental group, it is 6.91 ± 3.58 MPa. Group comparison using Chi-square test for the self-etching primer group adhesive remnant index (ARI) scores shows that more than half of the adhesive left over the tooth surface (score 3 and 4). For the conventional group, ARI scores show that there was no or slight amount of adhesive left over the tooth surface (score 5). The proportion of ARI score is significantly (P < 0.001) more in conventional (68.33%) as compared to self-etch primer (SEP) (28.33%). The proportion of ARI scores 4 and less is significantly more in SEP (71.67%) as compared to Conventional (6.67%) with P = 0.004 as per the Chi-square test. CONCLUSION: The bond strength of SEP is comparatively lesser than the conventional acid etching technique, but is definitely more or less to the required bond strength to resist masticatory forces. Majority of the studies conducted on self-etching primer are in vitro studies. Results of these cannot be extrapolated to the intraoral environment. Hence, further long-term clinical studies need to be carried out before actually recommending the use of self-etching primer in routine orthodontic bonding.

Incremental Value of Ga-68 Prostate-Specific Membrane Antigen-11 Positron-Emission Tomography/Computed Tomography Scan for Preoperative Risk Stratification of Prostate Cancer.

BACKGROUND: Prostate cancer (PC) is the second-most common cause of cancer.68Ga-prostate-specific membrane antigen (PSMA)-11 positron-emission tomography/computed tomography (PET/CT) scan help in accurate staging of PC owing to its high PSMA avidity and specificity. The aim of this prospective observational study was to determine the incremental value of Ga-68 PSMA-11 PET/CT over multiparametric magnetic resonance imaging (mpMRI) in the locoregional staging of intermediate- and high-risk PC using histopathology from radical prostatectomy specimens as a gold standard. MATERIALS AND METHODS: This was a prospective study, including 35 patients with biopsy-proven prostate carcinoma. All the patients underwent whole-body Ga-68 PSMA-11 PET/CT scans along with mpMRI including a dedicated pelvic imaging protocol within a time window of ± 10 days. The reference standard was based on histopathological results, postprostatectomy. RESULTS: All 35 patients showed Ga-68 PSMA-11-avid disease, of which 29 underwent radical prostatectomy, one underwent radiation therapy, and five did not undergo surgery owing to metastases. A total of 52 PC lesions were detected in 29 patients on histopathology. Of 52 lesions, 29 lesions were identified in prostate parenchyma and 23 were extraprostatic lesions on histopathology. Ga-68 PSMA-11 PET/CT detected a total of 45 lesions, of which 29 lesions were located within the prostate parenchyma and 16 were representative of extraprostatic lesions. mpMRI detected a total of 36 lesions, of which 29 lesions were located within the prostate parenchyma and seven were representative of extraprostatic lesions. The overall sensitivity of 68Ga-PSMA PET/CT and mpMRI in the detection of lesions was 86.2% and 68.6%, respectively. However, the overall specificity was 94.7% and 89.1% for 68Ga-PSMA and mpMRI, respectively. CONCLUSION: Ga-68 PSMA-11 PET/CT provided superior locoregional preoperative staging of PC as compared to mpMRI in intermediate- and high-risk PC patients.

Area-level deprivation, childhood dental ambulatory sensitive hospitalizations and community water fluoridation: evidence from New Zealand.

BACKGROUND: We examined the association between area-level deprivation and dental ambulatory sensitive hospitalizations (ASH) and considered the moderating effect of community water fluoridation (CWF). The hypothesis was that higher levels of deprivation are associated with higher dental ASH rates and that CWF will moderate this association such that children living in the most deprived areas have greater health gain from CWF. METHODS: Dental ASH conditions (dental caries and diseases of pulp/periapical tissues), age, gender and home address identifier (meshblock) were extracted from pooled cross-sectional data (Q3, 2011 to Q2, 2017) on children aged 0-4 and 5-12 years from the National Minimum Dataset, New Zealand (NZ) Ministry of Health. CWF was obtained for 2011 and 2016 from the NZ Institute of Environmental Science and Research. Dental ASH rates for children aged 0-4 and 5-12 years (/1000) were calculated for census area units (CAUs). Multilevel negative binomial models investigated associations between area-level deprivation, dental ASH rate and moderation by CWF status. RESULTS: Relative to CWF (2011 and 2016), no CWF (2011 and 2016) was associated with increased dental ASH rates in children aged 0-4 [incidence rate ratio (IRR) = 1.171 (95% confidence interval 1.064, 1.288)] and aged 5-12 years [IRR = 1.181 (1.084, 1.286)]. An interaction between area-level deprivation and CWF showed that the association between CWF and dental ASH rates was greatest within the most deprived quintile of children aged 0-4 years [IRR = 1.316 (1.052, 1.645)]. CONCLUSIONS: CWF was associated with a reduced dental ASH rate for children aged 0-4 and 5-12 years. Children living in the most deprived areas showed the greatest effect of CWF on dental ASH rates, indicating that the greater health gain from CWF occurred for those with the highest socio-economic disadvantage. Variation in CWF contributes to structural inequities in oral-health outcomes for children.

Addition of Dexmedetomidine to Ropivacaine in Subcostal Transversus Abdominis Plane Block Potentiates Postoperative Analgesia among Laparoscopic Cholecystectomy Patients: A Prospective Randomized Controlled Trial.

CONTEXT: Laparoscopic cholecystectomy is associated with moderate intensity postoperative pain especially in the early postoperative period. Transversus abdominis plane (TAP) block has been shown to reduce pain scores and analgesic requirements after abdominal surgery. AIMS: We hypothesized that a subcostal TAP block with ropivacaine and dexmedetomidine will prolong the duration of postoperative analgesia following laparoscopic cholecystectomy. SETTINGS AND DESIGN: This prospective, randomized study was done in 60 patients undergoing laparoscopic cholecystectomy surgery done at a tertiary care institution. SUBJECTS AND METHODS: Sixty patients undergoing laparoscopic cholecystectomy were randomized into two groups to receive either bilateral ultrasonography-guided subcostal TAP blocks with 18 mL 0.375% ropivacaine and 2 ml of normal saline (n = 30, Group R) or 18 ml. 375% ropivacaine with 0.5 µg/kg dexmedetomidine 2 mL (n = 30, Group RD). Numerical rating scale was measured postoperatively to primarily assess the pain severity and analgesic requirement for the first 24 h, hemodynamic parameters, and adverse effects were recorded. STATISTICAL ANALYSIS USED: Categorical data were analyzed using Chi-square test/Fisher's exact test and quantitative data were analyzed using Student's t-test and the Mann-Whitney U-test. RESULTS: The study group (Group RD) had significantly prolonged postoperative analgesia (485.6 min) as compared to Group R (289.83 min). Moreover, consumption of morphine over 24-h period is significantly less in Group RD (14.5 mg) as compared to Group R (28.5 mg). CONCLUSIONS: Addition of dexmedetomidine to ropivacaine in TAP block prolongs postoperative analgesia and reduces opioid consumption without any major adverse effects.

Correlation of Orthodontic Treatment by Fixed or Myofunctional Appliances and Periodontitis: A Retrospective Study.

INTRODUCTION: Malocclusion plays an important role in the development of periodontitis. Thus, by treating malocclusion, a good gingival health can be achieved. This study was conducted to establish the correlation between orthodontic tooth movement and periodontitis. MATERIALS AND METHODS: This is a retrospective study conducted on 220 patients who underwent orthodontic treatment for malocclusion. They were divided into two groups: Group I patients were treated with fixed orthodontics, while group II patients received myofunctional appliances. RESULTS: The value for plaque, gingival recession, and tooth mobility significantly increased in group I patients. However, the difference was statistically nonsignificant in group II patients. CONCLUSION: The authors concluded that there is correlation between malocclusion and periodontitis. Malocclusion leads to periodontitis. CLINICAL SIGNIFICANCE: Malocclusion is the main reason for the development of poor periodontal health. Combined effort has to be played by both periodontist and orthodontist for the treatment of various orthodontic-periodontal problems.

Enhancing attention in neurodegenerative diseases: current therapies and future directions.

We all experience at least occasional lapses in attention but in some neurological conditions, loss of attention is pervasive and debilitating. Treating deficits in attention first requires an understanding of the neurobiology of attention, which we now understand to be a set of different cognitive processes. Cholinesterase inhibitors are already established as effective attentional enhancers used in the treatment of certain dementias. Other stimulant agents such as modafanil, amphetamine and methylphenidate have demonstrated limited success in healthy individuals where attention is already optimal and clinical trials in patients with neurological disease are sparse. Dietary and lifestyle changes are gaining increasing prominence, as are experimental treatments such as deep brain stimulation and transcranial magnetic stimulation. As the therapeutic arsenal widens, clinicians will be able to match specific treatments to selective deficits in attention, giving patients a tailored management plan. Here we review common diseases that impair attention and emphasise how an understanding of attentional processing within the brain might lead to improved therapeutic strategies.

A defect in the retromer accessory protein, SNX27, manifests by infantile myoclonic epilepsy and neurodegeneration.

The composition of the neuronal cell surface dictates synaptic plasticity and thereby cognitive development. This remodeling of the synapses is governed by the endocytic network which internalize transmembrane proteins, then sort them back to the cell surface or carry them to the lysosome for degradation. The multi-protein retromer complex is central to this selection, capturing specific transmembrane proteins and remodeling the cell membrane to form isolated cargo-enriched transport carriers. We investigated a consanguineous family with four patients who presented in infancy with intractable myoclonic epilepsy and lack of psychomotor development. Using exome analysis, we identified a homozygous deleterious mutation in SNX27, which encodes sorting nexin 27, a retromer cargo adaptor. In western analysis of patient fibroblasts, the encoded mutant protein was expressed at an undetectable level when compared with a control sample. The patients' presentation and clinical course recapitulate that reported for the SNX27 knock-out mouse. Since the cargo proteins for SNX27-mediated sorting include subunits of ionotropic glutamate receptors and endosome-to-cell surface synaptic insertion of AMPA receptors is severely perturbed in SNX27(-/-) neurons, it is proposed that at least part of the neurological aberrations observed in the patients is attributed to defective sorting of ionotropic glutamate receptors. SNX27 deficiency is now added to the growing list of neurodegenerative disorders associated with retromer dysfunction.