Specific Etiology Research Articles

Causes of Dorsal Cutaneous Branch of the Ulnar Nerve Neuropathy Among Patients Undergoing Electrodiagnostic Studies: A Series of 14 Patients.

Isolated neuropathy of the dorsal cutaneous branch of the ulnar nerve (DCBUN) is rare and most cases are secondary to trauma, often iatrogenic.The topography of sensory abnormalities and abnormal electrodiagnostic (EDX) findings are crucial in confirming DCBUN neuropathy. Materials and methods: This is a retrospective study of patients with isolated involvement of the DCBUN from among patients referred for EDX studies for upper extremity symptoms.All patients underwent a focused neurological examination followed by EDX studies.Ultrasound (US) studies were performed in two patients. Results: Of the 14 patients with DCBUN neuropathy, decreased pinprick sensation in the distribution of the DCBUN was noted in 11 (78%) patients.DCBUN sensory nerve action potential (SNAP) was not recordable in 13 (92%) patients.In one patient who had a recordable SNAP, the latency was prolonged, and the amplitude was decreased.Four (28%) patients had incidental EDX abnormalities suggestive of entrapment of the median nerve at the carpal tunnel.The most common cause of DCBUN neuropathy was trauma in 13 (92%) patients, of which eight were iatrogenic.No specific etiology was detected in one patient (7%).Of the two patients who underwent US studies, one had increased cross-sectional area (CSA) at the wrist with prominent fascicles and hyperechoic scar tissue, while the CSA was normal in the other patient. Although rare, DCBUN neuropathy can be readily confirmed by typical clinical features and EDX findings.Surgeons should be aware of the anatomy and clinical features of DCBUN neuropathy and avoid injuring the nerve during surgical procedures at the wrist and forearm.

Neuromyelitis Optica Spectrum Disorder (NMOSD) Relapse Triggered by Secondary Syphilis: A Case Report (P10-5.021)

<h3>Objective:</h3> Not applicable <h3>Background:</h3> This report represents a case of post-infections NMOSD relapse due to syphilis. <h3>Design/Methods:</h3> Not applicable <h3>Results:</h3> A 25-year-old woman was admitted in the emergency room with an acute onset of paresthesia in the upper and lower limbs and an electric shock sensation irradiating to both arms during neck flexion (Lhermitte’s sign). She had round hyperchromic papular lesions in the palms and soles, which were painless, non-pruritic and appeared at the same time as the neurological picture. In the neurological examination, she presented sensory ataxic gait, positive Romberg maneuver, dysmetria in the finger-nose test with eyes closed, slight proximal and distal weakness in the left arm, hyperreflexia in all four limbs with bilateral Achilles clonus, apalesthesia with loss of proprioception in the hands, painful anesthesia in the right arm and painful hypoesthesia in the right foot and left leg. She had a previous history of systemic lupus erythematosus since the age of 14, and NMOSD with positive serum anti-AQP4 antibody diagnosed at the age of 23. In the current relapse, serum VDRL was 1:32, CSF was normal, and MRI showed an extensive area of increased signal in cervical cord suggesting longitudinally extensive myelitis. The diagnosis of an acute attack of NMOSD triggered by secondary syphilis (roseola syphilitic) was established. She received one dose of 2.4 million I.U. benzathine penicillin, and methylprednisolone treatment was initiated, with no positive results. Plasmapheresis was then performed, with improvement of the strength, sensibility, and coordination. <h3>Conclusions:</h3> The post-infectious acute attacks of NMOSD are represented in literature through few cases reported. The present case highlights the importance of seeking the specific etiology of an NMOSD relapse, allowing not only its treatment but also the identification and elimination of a possible underlying infectious agent. <b>Disclosure:</b> Dr. Lima has nothing to disclose. Dr. Schafascheck has nothing to disclose. Dr. Moura has nothing to disclose. Dr. Carvalho has nothing to disclose. Dr. Seide Cardoso has nothing to disclose. Dr. Colares Lessa has nothing to disclose. Miss Mageste has nothing to disclose. Dr. Gaudio has nothing to disclose. Dr. Braune has nothing to disclose.

Etiological study of superficial radial nerve neuropathy: series of 34 patients.

Superficial radial nerve (SRN) neuropathy is a rare focal neuropathy leading to pain and paresthesia of the dorsolateral aspect of the hand. Reported causes include trauma, extrinsic compression, or it may be idiopathic. We describe the clinical and electrodiagnostic (EDX) features of 34 patients with SRN neuropathy of varied etiology. This is a retrospective study of patients with upper limb neuropathy referred for EDX studies who were found to have SRN neuropathy based on clinical and EDX findings. Twelve patients also had ultrasound (US) evaluations. Decreased pinprick sensation was noted in the distribution of the SRN in 31 (91%) patients, and a positive Tinel's sign was observed in 9 (26%). Sensory nerve action potentials (SNAPs) were not recordable in 11 (32%) patients. Of the patients who had a recordable SNAP, the latency was delayed, and the amplitude was decreased in all cases. Of the 12 patients who underwent US studies, 6 (50%) had an increased cross-sectional area of the SRN at or immediately proximal to the site of injury/compression. A cyst was located adjacent to the SRN in 2 patients. The most common cause of SRN neuropathy was trauma in 19 (56%) patients, of which 15 were iatrogenic. A compressive etiology was identified in 6 patients (18%). No specific etiology was detected in 10 patients (29%). This study is aimed at raising the awareness among surgeons about the clinical features and varied causes of SRN neuropathy; such knowledge may potentially lessen iatrogenic causes of injury.

Interesting case series on distinct histopathological findings of six cases of epididymo-orchitis

Several clinicopathological illnesses impact the testis and paratesticular area, which are divided into non-neoplastic and neoplastic diseases. Despite the availability of imaging and tumor marker testing, histopathological examination is the primary method for diagnosing testicular lesions. Common indications of orchidectomy for non-neoplastic lesions are cryptorchidism, epididymitis and testicular torsion. Few non- neoplastic lesions present as mimickers of neoplasm with commonest being granulomatous orchitis and AFB positivity detected only in 2.1% of cases with bilateral presentation being rarest. We report here a series of six cases of epididymo-orchitis to discuss the histopathological spectrum with varied etiologies. Age of the patients ranged between 33-65yr old males. Amongst six cases, two of them were clinically and radiologically suspected as neoplastic lesions, which were histopathologically diagnosed as granulomatous epididymo-orchitis with one among it showing strong positivity for AFB, and two cases as testicular torsion with orchitis and one of the case was diagnosed as cryptorchid testis with foci of atypical germ cell and last case was reported as mild non-specific orchitis, for surgical castration. In this study, we also noted unilateral presentation being the commonest, specifically of Right side. Knowledge of histopathological spectrum of epididymo-orchitis is of prime importance to detect underlying specific etiology for targeted therapy and prevent undue orchidectomy.In this study, two cases which were clinically suspected as neoplastic lesions, were confirmed as granulomatous epididymo-orchitis on histopathological examination with one case showing strong AFB positivity.In this study, we noted late presentation (5th decade) of cryptorchidism with some atypical germ cells which are forerunner of malignancy.

MP75-17 MATERNAL, NEONATAL AND PREGNANCY OUTCOMES IN UROLOGY: HOW DO WE MEASURE UP?

You have accessJournal of UrologyCME1 Apr 2023MP75-17 MATERNAL, NEONATAL AND PREGNANCY OUTCOMES IN UROLOGY: HOW DO WE MEASURE UP? Brittany Levy, Tess London-Bounds, Alexandra Kejner, Nikita Gupta, Adam Dugan, Will Cranford, and Amanda Saltzman Brittany LevyBrittany Levy More articles by this author , Tess London-BoundsTess London-Bounds More articles by this author , Alexandra KejnerAlexandra Kejner More articles by this author , Nikita GuptaNikita Gupta More articles by this author , Adam DuganAdam Dugan More articles by this author , Will CranfordWill Cranford More articles by this author , and Amanda SaltzmanAmanda Saltzman More articles by this author View All Author Informationhttps://doi.org/10.1097/JU.0000000000003349.17AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookLinked InTwitterEmail Abstract INTRODUCTION AND OBJECTIVE: Physicians and especially surgeons, are higher risk for pregnancy complications leading to poor pregnancy, neonatal and health outcomes. However, across surgical specialties, pregnancy and neonatal outcomes have not been delineated. The objective of this survey study was to evaluate maternal, neonatal and pregnancy outcomes compared to other surgical specialties. METHODS: A survey was distributed to practicing surgeons across specialties including general surgery, urology, otolaryngology, and associated subspecialties. Survey questions regarding demographics, career stage, pregnancy/delivery, neonatal complications, maternity leave, breast feeding goals, and barriers to meeting these goals were asked. Responses were analyzed comparing urology/urologic subspecialties to other surgical specialties. RESULTS: S:1162 births across surgical specialties were obtained, 159 of which were to urologic surgeons. Of these births, 454 were to trainees, while 694 children were birthed to attendings. Similarities across surgical subspecialties included gestational age at delivery (p=0.161). Those in urology/urology subspecialties were less likely to have pregnancy complications compared to other surgical specialties (31.4% vs 44.4%, p=0.003). Additionally, children born to urologists were more frequently healthy (87.8% vs 78.1%, p=0.031) without major or minor neonatal health issues (Figure 1). CONCLUSIONS: Overall, urologists have improved pregnancy and infant health outcomes compared to other surgical specialties. Further research is needed to identify specific etiologies to enable directed quality improvement measures for all child bearing surgeons. Source of Funding: None © 2023 by American Urological Association Education and Research, Inc.FiguresReferencesRelatedDetails Volume 209Issue Supplement 4April 2023Page: e1087 Advertisement Copyright & Permissions© 2023 by American Urological Association Education and Research, Inc.MetricsAuthor Information Brittany Levy More articles by this author Tess London-Bounds More articles by this author Alexandra Kejner More articles by this author Nikita Gupta More articles by this author Adam Dugan More articles by this author Will Cranford More articles by this author Amanda Saltzman More articles by this author Expand All Advertisement PDF downloadLoading ...

803 Outcome Analysis of Surgical Management of Paediatric Cervical Kyphotic Deformity (CKD): An Institutional Experience

INTRODUCTION: Paediatric cervical kyphotic deformity (CKD) is extremely rare and occurs due to congenital, traumatic, metabolic or neoplastic processes which mandates surgical correction. Most outcomes analysis following surgery are small retrospective case series and are limited to specific etiology or surgical technique. METHODS: Patients (aged ≤ 18 years) operated at a tertiary centre between January 2009 to April 2022 were included. Besides demographic details, the outcome measures assessed were clinical (Nurick grading, mJOA score), radiological (Cobb’s angle) and operative complications. RESULTS: A total of twenty-two patients were included, with mean age of 12.90 4.02 years (3 – 18) of which ten were syndromic, three were metabolic, seven were post-traumatic and one post-infective. Thirteen patient had features of myelopathy on presentation. All underwent surgical correction, of which nine patients underwent Antero-posterior approach, eight patients underwent Posterior only approach and four patients underwent Anterior only approach. Clinically, patients improved postoperatively with – Nurick grade (pre vs. post: 3.24 vs. 2.24, p – 0.172), mJOA score (pre vs. post: 10.19 vs. 12.71, p – 0.679). There was significant deformity correction from 37.086° to 13.725° (p – 0.045). Mean blood loss encountered was 680 ± 671.93 cc. Early complications included intraoperative hemodynamic instability (4) and lung collapse (1). Late complications included junctional kyphosis (1). Mean follow-up was 49.38 ± 44.15 months. CONCLUSIONS: Pediatric CKD are rare, debilitating condition which can be managed surgically. Antero-posterior approach provides circumferential decompression and better correction compared to Anterior only and posterior only approach. Patients should be screened for syndromic association and regularly followed.

The International League Against Epilepsy Classification and Definitions of Epilepsy Syndromes with Onset in Neonates and Infants

The International League Against Epilepsy (ILAE) Task Force proposed a classification system containing definitions of epilepsy syndromes with onset in neonates and infants up to 2 years of age. Concordant with the 2017 ILAE Framework for Classification of the Epilepsies, this new classification emphasized the importance of classifying epilepsy both by electroclinical features and etiology. This classification was developed to clearly define a uniform group of each epilepsy syndrome and to support precision therapies for specific genetic factors. The ILAE Task Force classified epilepsy syndromes into two major categories; self-limited epilepsies and developmental and epileptic encephalopathies. Self-limited epilepsies include syndromes that are likely to show spontaneous remission, while developmental and epileptic encephalopathies are characterized by developmental impairment related to both the underlying etiology independent of epileptiform discharges and the epileptic encephalopathy. Etiology-specific epilepsy syndromes include disorders due to specific genetic, structural, and metabolic etiologies. The ILAE Task Force presented mandatory features, alerts, and exclusionary features for each epilepsy syndrome. Clinicians need to consider both the electroclinical features and the etiology when defining epilepsy syndromes and developing a management plan for each individual. Key words: Epilepsy syndromes; Benign neonatal epilepsies; Infantile spasms; Severe myoclonic epilepsy in infancy.

Safety and Efficacy of Allogeneic Umbilical Cord Blood Therapy for Global Development Delay and Intellectual Disability.

Most pediatric patients with global developmental delay (GDD) or intellectual disability (ID) have disrupted development. Since allogeneic umbilical cord blood (UCB) may exert neurotrophic effects, a prospective clinical trial was conducted to assess the efficacy and safety of UCB therapy for GDD and ID. A total of 13 children (ages 23-149 months) with GDD and ID were enrolled and followed up for 12 months. Under criteria of histocompatibility and cell number, allogeneic UCB units were selected and infused once intravenously, and adverse events were monitored. The Bayley Scale of Infant Development-II (BSID-II) was used as primary outcome measurement tool, and evaluations for various functional abilities were also implemented. Safety assessment did not reveal significant adverse effects. Functional improvements in mental and motor developments along with daily living activities and languages were observed at 12 months postintervention compared with the baseline abilities (P < 0.05). Furthermore, mental developmental quotient derived from BSID-II mental scale revealed significantly facilitated improvement during the first 3 months (P < 0.05). In the survey conducted 80.7 ± 13.0 months after UCB infusion to assess satisfaction and long-term safety, no long-term adverse effects were reported, and 70% of the guardians reported satisfaction with the UCB infusion. Long-term changes in two patients who were regularly followed up beyond the study completion were noticeable. One case observed for 4 years showed dramatic improvement until 12 months after UCB therapy, whereas she showed insignificant improvement beyond 12 months after the therapy. Another case showed alleviation of autism with findings of anti-inflammatory response in his peripheral blood after UCB infusion. This clinical study provides support for further applications of UCB as a therapeutic avenue for children with GDD or ID owing to its safety and partial efficacy. Due to patient heterogeneity, further studies focusing on specific clinical manifestations and etiologies are required. Registered at www.clinicaltrials.gov (NCT01769716).

Clinical and genetic analysis of cases of progressive familial intrahepatic cholestasis type 3

Objective: To conduct clinical and genetic analysis in two cases of cholestatic liver disease to determine the specific etiology of cholestasis. Methods: Clinical data and the medical histories in family members of two cases were collected. The gene variation was detected by whole-exome sequencing technology. Sanger sequencing validation and bioinformatics analysis were performed on patients and their parents with suspected pathogenic mutations. Results: Whole-exome sequencing showed that the ABCB4 gene of case 1 (a male, 16 years old) had compound heterozygous mutations of c.646C > T from the father and c.927T > A from the mother, while the ABCB4 gene of case 2 (a female, 17 years old) had a compound heterozygous mutation of c.2784-1G > A from the father and c.646C > T from the mother. New mutation sites that had not been previously reported were c.646C > T, c.927T > A, and c.2784-1G > A. Conclusion: In this study, both cases had progressive familial intrahepatic cholestasis type 3 (PFIC-3) caused by ABCB4 gene mutations, and it also enriched the ABCB4 pathogenic variant spectrum. Whole-exome sequencing technology provides a reliable diagnostic tool for etiological analysis.

The pathogenesis hypothesis and research progress of CLIPPERS: A literature review.

Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) is still a rare autoimmune disease in the world. In recent years, there are more and more reports about the clinical manifestations of CLIPPERS, but the specific etiology and pathogenesis are not clear. In this paper, by collating the literature reported in recent years, in the reported effective treatment cases, we found the current hypothesis about the pathogenesis of CLIPPERS. Three pathogenesis hypotheses: organ-specific autoimmunity; virus infection affects autoimmunity; and helper T lymphocyte 17 mediates autoimmunity. Although it is hypothetical, it is expected to further clarify the pathogenesis, evolution characteristics, and treatment of CLIPPERS, so as to provide a reference for further understanding of the disease. In the future, more observations and studies are needed to further verify the feasibility of the hypothesis. This article expands on atypical clinical manifestations and summarizes treatment options. Hope to provide a reference for clinical diagnosis and treatment of CLIPPERS.

The power of desktop scanning electron microscopy with elemental analysis for analyzing urinary stones

The aim of this paper is to present a protocol for the routine morphocompositional study of kidney stones in a clinical setting, and to demonstrate that it is a simple and useful approach that can reliably determine the etiology of all types of kidney stones. Our routine study of kidney stones consists of a combination of stereoscopic microscopy, scanning electron microscopy, and infrared spectroscopy. The usefulness of such a procedure is demonstrated by its application to several illustrating examples. The protocol applied here is reliable and fast, and does not require multiple infrared spectroscopic analyses for most non-homogeneous samples. It also provides the identification of components that are present in very small proportions, the characteristics of internal and external structures, and information about areas with biological structures, such as renal tubules. It should be noted that results are obtained in a relatively short time and with high reliability. The detailed morphocompositional study of a urinary calculus is essential for establishing the diagnosis and etiology and for initiating the treatment of a patient with renal lithiasis, because there is a relationship between the specific characteristics of a stone and the specific etiology of the disease. The increasing number of treatments available for patients with different types of renal calculi makes improvements in diagnosis and determination of stone etiology, such as the procedure described here, more important now than ever.

Cutaneous angiomatosis‐like presentation in koi carp (Cyprinus carpio koi): Clinical–pathological investigations

The skin represents an indicator of an animal's health status. Causes of cutaneous diseases in fish most often trace back to biological agents. However, fish skin diseases can also arise from a complex interaction of infectious and non-infectious causes, making it more difficult to identify a specific aetiology. In the period between April and September of the years 2019-2022, four koi carp (Cyprinus carpio koi) from two European countries presented with multifocal, irregularly round, few mm to 1cm, variably raised cutaneous reddened areas. The fish displayed good general condition. Cutaneous samples, investigated by microbiological and molecular methods and microscopy, did not indicate a primary pathogenic agent. Gross and histological findings of the cutaneous biopsies were consistent with a multifocal/reactive process centred on dermal vessels. The histological features were reminiscent of angiomatosis, a benign proliferative condition affecting the dermal vessels of mammals, including human patients. The clinical-pathological presentation and the dermatologic condition that affected the koi carp are discussed and compared with the veterinary and human literature.

RACK1 may participate in placental development at mid-gestation via regulating trophoblast cell proliferation and migration in pigs.

Intrauterine growth restriction (IUGR) is a severe complication in swine production. Placental insufficiency is responsible for inadequate fetal growth, but the specific etiology of placental dysfunction-induced IUGR in pigs remains poorly understood. In this work, placenta samples supplying the lightest weight (LW) and mean weight (MW) pig fetuses in the litter at Day 65 (D65) of gestation were collected, and the relationship between fetal growth and placental morphologies and functions was investigated using histomorphological analysis, RNA sequencing, quantitative polymerase chain reaction, and in vitro experiment in LW and MW placentas. Results showed that the folded structure of the epithelial bilayer of LW placentas followed a poor and incomplete development compared with that of MW placentas. A total of 654 differentially expressed genes (DEGs) were screened out between the LW and MW placentas, and the gene encodes receptor for activated C kinase 1 (RACK1) was found to be downregulated in LW placentas. The DEGs were mainly enriched in translation, ribosome, protein synthesis, and mammalian target of rapamycin (mTOR) signaling pathway according to gene ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analyses. In vitro experiments indicated that the decreased RACK1 in LW placentas may be involved in abnormal development of placental folds (PFs) by inhibiting the proliferation and migration of porcine trophoblast cells. Taken together, these results revealed that RACK1 may be a vital regulator in the development of PFs via regulating trophoblast cell proliferation and migration in pigs.

Screening of celiac disease in children with growth failure

Celiac disease is a chronic enteropathy caused by intolerance to gluten. Its clinical spectrum is broad. Presentation of celiac disease varies from absence of symptoms to gastrointestinal (classic) and/or extraintestinal (non-classic) symptoms. Patients without symptoms may have latent or silent celiac disease. Because celiac disease can be atypical or even clinically silent, many patients remain undiagnosed and at risk for the long-term, sometimes serious complications of untreated celiac disease.The aim of this study is to determine the prevalence of celiac disease (CD) in children with growth failure and the diagnostic value of tissue-transglutaminase (TTG) IgA antibodies and IgA antigliadin antibodies (AGA) for celiac disease.Patients and Methods: A total of 104 children (43 male, 61 female) with growth failure without a specific etiology were studied. Extensive investigations had shown no abnormalities in any subject. Anthropometric parameters and IgA AGA and IgA TTG antibodies were evaluated in this study group. These antibodies were measured by enzyme-linked immunosorbent assay. All patients were referred for an endoscopic intestinal biopsy. The biopsy samples were classified according to revised Marsh criteria .Results: the prevalence of properly diagnosed CD among patients with growth failure in this study was 25.9% (27 of 104patients).Out of 104 patients 57 of them were positive upon screening with the serological tests. IgA -AGA, and IgA -TTG antibodies were found in 81.4% (n = 22 out of 27 with confirmed CD), and 88.8% (n = 24 out of 27 with confirmed CD) of patients with growth failure, respectively. Sensitivity,Specificity ,the positive predictive value (PPV),negative predictive value(NPV) for TTG antibodies were found to be 88.8%, 94.2%, 85.7%, and 94.7% for CD in the group of patients with growth filure in this study and for IgA AGA: sensitivity 81.4%, specificity 88.4%, positive predictive value( PPV) 75.8%, negative predictive value (NPV) 90.6% were found in this study.Conclusion: We conclude that the prevalence of celiac disease is high in patients with idiopathic growth failure and it is important to test all children with idiopathic growth failure for celiac disease by measuring serologic markers and performing an intestinal biopsy.

Artificial intelligence–enabled classification of hypertrophic heart diseases using electrocardiograms

Differentiating among cardiac diseases associated with left ventricular hypertrophy (LVH) informs diagnosis and clinical care. To evaluate if artificial intelligence-enabled analysis of the 12-lead electrocardiogram (ECG) facilitates automated detection and classification of LVH. We used a pretrained convolutional neural network to derive numerical representations of 12-lead ECG waveforms from patients in a multi-institutional healthcare system who had cardiac diseases associated with LVH (n = 50,709), including cardiac amyloidosis (n = 304), hypertrophic cardiomyopathy (n = 1056), hypertension (n = 20,802), aortic stenosis (n = 446), and other causes (n = 4766). We then regressed LVH etiologies relative to no LVH on age, sex, and the numerical 12-lead representations using logistic regression ("LVH-Net"). To assess deep learning model performance on single-lead data analogous to mobile ECGs, we also developed 2 single-lead deep learning models by training models on lead I ("LVH-Net Lead I") or lead II ("LVH-Net Lead II") from the 12-lead ECG. We compared the performance of the LVH-Net models to alternative models fit on (1) age, sex, and standard ECG measures, and (2) clinical ECG-based rules for diagnosing LVH. The areas under the receiver operator characteristic curve of LVH-Net by specific LVH etiology were cardiac amyloidosis 0.95 [95% CI, 0.93-0.97], hypertrophic cardiomyopathy 0.92 [95% CI, 0.90-0.94], aortic stenosis LVH 0.90 [95% CI, 0.88-0.92], hypertensive LVH 0.76 [95% CI, 0.76-0.77], and other LVH 0.69 [95% CI 0.68-0.71]. The single-lead models also discriminated LVH etiologies well. An artificial intelligence-enabled ECG model is favorable for detection and classification of LVH and outperforms clinical ECG-based rules.

A105 CHRONIC DIARRHOEA AND ELEVATED LIVER ENZYMES IN A PATIENT WITH AUTOIMMUNE POLYGLANDULAR SYNDROME TYPE 1

Abstract Background Autoimmune polyendocrine syndrome type 1 (APS1) is a rare inherited autoimmune disease, characterized by primary adrenocortical insufficiency and hypoparathyroidism. Pathologic mutations in the autoimmune regulator (AIRE) gene, which participates in the regulation of T-cell self-tolerance can lead to APS-1. Defective function of AIRE encourages production of multiple anti-cytokine and organ-specific autoantibodies, leading to severe autoimmune disease across multiple organs. Autoimmune enteropathy is one of the autoimmune conditions associated with APS-1. Symptoms include chronic diarrhoea and weight loss. Extraintestinal manifestations can include haemolytic anaemia and hepatitis. Purpose To report on a patient with APS-1 who exhibited exacerbations of acute-on-chronic diarrhoea and transaminitis. Method We describe the case of a 14-year-old female, the first child of healthy, first-cousin consanguineous parents, with a history of APS type 1 with a homozygous disease-causing variant in the AIRE gene (c.415C&amp;gt;T, p.139*), hypoparathyroidism and Addison’s disease who presented with worsening diarrhoea and unintentional weight loss (15kg) in the past year. Upper and lower endoscopies performed 10 months and 2 months prior to this admission revealed chronic gastritis and patchy active colitis, without features of a specific etiology. Enteroendocrine cells were present. Celiac disease, inflammatory bowel disease, eosinophilic gastroenteritis, and IPEX syndrome were clinically and histologically ruled out. Result(s) On admission, the patient was having five watery stools per day with associated hypocalcemia and hypokalemia which were felt to be more resistant to treatment than should be explained by her Addison’s disease alone. Albumin was preserved (46 g/L). A stool PCR test for Adenovirus was positive, though serum adenovirus PCR was negative. ALT was 231 U/L and AST was 283 U/L. IgG level was elevated (17.7 g/L), anti-nuclear antibody (ANA) was positive (1:320), and anti-smooth muscle antibody (ASMA) was also positive (1:160). It was therefore suspected that he had autoimmune enteropathy and autoimmune hepatitis, and a liver biopsy was performed as well as upper and lower endoscopies. Liver biopsy demonstrated only minimal macrosteatosis (less than 5%) but no evidence of hepatitis. No abnormal endoscopic findings were observed. Histology showed no typical features of autoimmune enteropathy. Enteroendocrine cells were noted in both small and large intestinal biopsies. Her elevated liver enzymes and diarrhea were resolved spontaneously over a 2-week period. Conclusion(s) We present a patient with APS-1 with acute-on-chronic diarrhoea and transaminitis with elevated IgG and positive ANA and ASMA. Endoscopy and liver biopsy did not reveal evidence of autoimmune enteropathy or autoimmune hepatitis. This case raises the importance of maintaining a broad differential diagnosis when diarrhoea is encountered in APS-1 as this may occur for reasons outside of autoimmune enteroendocrine cell loss. Please acknowledge all funding agencies by checking the applicable boxes below None Disclosure of Interest None Declared ENDOSCOPY, TECHNOLOGY &amp; IMAGING

The Role of miRNAs in Neuropathic Pain

Neuropathic pain is a debilitating condition affecting around 8% of the adult population in the UK. The pathophysiology is complex and involves a wide range of processes, including alteration of neuronal excitability and synaptic transmission, dysregulated intracellular signalling and activation of pro-inflammatory immune and glial cells. In the past 15 years, multiple miRNAs-small non-coding RNA-have emerged as regulators of neuropathic pain development. They act by binding to target mRNAs and preventing the translation into proteins. Due to their short sequence (around 22 nucleotides in length), they can have hundreds of targets and regulate several pathways. Several studies on animal models have highlighted numerous miRNAs that play a role in neuropathic pain development at various stages of the nociceptive pathways, including neuronal excitability, synaptic transmission, intracellular signalling and communication with non-neuronal cells. Studies on animal models do not always translate in the clinic; fewer studies on miRNAs have been performed involving human subjects with neuropathic pain, with differing results depending on the specific aetiology underlying neuropathic pain. Further studies using human tissue and liquid samples (serum, plasma, saliva) will help highlight miRNAs that are relevant to neuropathic pain diagnosis or treatment, as biomarkers or potential drug targets.

ELECTROCONVULSIVE THERAPY FOR AGITATION IN LEWY BODIES DEMENTIA

IntroductionDementia with Lewy Bodies (DLB) is a primary degenerative dementing syndrome characterized by visual hallucinations, fluctuation in cognition, depressive symptoms and parkinsonism. Literature has shown the utility of electroconvulsive therapy (ECT) in demented patients regarding depressive symptoms and agitation. Nevertheless, the majority of cases described include patients with vascular dementia and Alzheimer’s disease. There are no cases informed concerning ECT in DLB patients with agitation and aggressive behaviors.ObjectivesEvaluate the impact of electroconvulsive therapy (ECT) for agitation in a patient with diagnosis of Lewy Bodies Dementia (DLB).MethodsCase report. 68-year-old male, with no prior neuropsychiatric history, was present for psychiatric evaluation for 5 year history of progressive dementia with fluctuations in cognition, complex visual hallucinations, delusional beliefs, depressive mood, anhedonia, irritability, associated to parkinsonism and increasing autoaggressive behaviors and agitation.An extensive neurologic workup including neuroimaging, EEG and laboratory studies failed to reveal a specific etiology. Neuropsychological testing reveals frontal, attentional, and visuospatial dysfunction. A presumptive diagnosis of DLB was made.Medication trials including donepezil, memantine, lamotrigine, sertraline, quetiapine, risperidone and melatonin failed to manage his depressive, psychotic and behavioral disturbances.ResultsConsidering past medication failures and prominent behavioral disturbances family consented for an acute course of ECT.Initial acute phase consisted of 6 sessions of right unilateral, brief pulse width (0.3 ms) ECT tri-weekly utilizing Mecta Spectrum. Anesthesia was induced with propofol, and received succinylcholine for muscle relaxation. Initial charge was 115 mC (6x seizure threshold), then raised to 192 mC. Seizure duration averaged in 22 seconds. No adverse reactions reported.Clinical outcomes were measured with the CGI-Efficacy Index. Pre-ECT CGI-SI score was 6 (severely ill) and post-ECT CGI-I was 3 (minimally improved).ConclusionsMood and behavioral disturbances are a frequent primary motive consultations in DLB patients. The treatment is challenging due to the sensitivity to antidopaminergic medications evidenced in this type of patients. This case suggests that ECT has an impact in the treatment of agitation and aggression in DLB patients, although further investigation is needed.Disclosure of InterestNone Declared

Redefining Bradykinesia.

Redefining Bradykinesia.

Proteome analysis reveals novel serum biomarkers for Henoch-Schönlein purpura in Chinese children

PurposeHenoch-Schönlein purpura (HSP) is diagnosed based on characteristic skin changes. This study aimed to identify the serum biomarkers of HSP in children. Experimental designWe performed proteomic analysis of serum samples from 38 paired pre- and posttherapy HSP patients and 22 healthy controls using a combination of magnetic bead-based weak cation exchange and MALDI-TOF MS. ClinProTools was used to screen the differential peaks. Then, LC–ESI–MS/MS was performed to identify the proteins. ELISA was used to verify the expression of whole protein in the serum of 92 HSP patients, 14 peptic ulcer disease (PUD) patients and 38 healthy controls, which were prospectively collected. Finally, logistic regression analysis was performed to analyze the diagnostic value of the above predictors and existing clinical indicators. ResultsSeven potential HSP serum biomarker peaks (m/z:1228.95, m/z:1781.22, m/z:1468.43, m/z:1619.53, m/z:1868.41, m/z:1694.05, m/z:1743.25) with higher expression in the pretherapy group and one peak (m/z:1947.41) with lower expression in the pretherapy group were all identified as peptide regions of albumin (ALB), complement C4-A precursor (C4A), tubulin beta chain (TUBB), isoform 1 of fibrinogen alpha chain (FGA), and ezrin (EZR). The expression of identified proteins was validated by ELISA. Multivariate logistic regression analysis showed that serum C4A EZR and ALB were independent risk factors for HSP, serum C4A and lgA were independent risk factors for HSPN, and serum D-dimer was an independent risk factor for abdominal HSP. Conclusions and clinical relevanceThese findings revealed the specific etiology of HSP from the perspective of serum proteomics. The identified proteins might serve as potential biomarkers for HSP and HSPN diagnoses. SignificanceHenoch-Schönlein purpura (HSP) is the most common systemic vasculitis in children, and its diagnosis depends primarily on characteristic skin changes. Early diagnosis of non-rash patients is difficult, especially for abdominal and renal types (Henoch-Schönlein purpura nephritis, HSPN). HSPN has poor outcomes, is diagnosed based on urinary protein and/or haematuria, and cannot be detected early in HSP. Patients with an earlier diagnosis of HSPN appear to have better renal outcomes. Our plasma proteomic analysis of HSP in children revealed that HSP patients could be distinguished from healthy controls and peptic ulcer disease patients using complement C4-A precursor (C4A), ezrin, and albumin. C4A and IgA could distinguish HSPN from HSP in the early stages, and D-dimer was a sensitive index used to distinguish abdominal HSP; identifying these biomarkers could promote the early diagnosis of HSP, especially pediatric HSPN and abdominal HSP, thereby improving precision therapy.