Variable Clinical Presentation Research Articles

AI-powered visual diagnosis of vulvar lichen sclerosus: A pilot study.

Vulvar lichen sclerosus (VLS) is a chronic inflammatory skin condition associated with significant impairment of quality of life and potential risk of malignant transformation. However, diagnosis of VLS is often delayed due to its variable clinical presentation and shame-related late consultation. Machine learning (ML)-trained image recognition software could potentially facilitate early diagnosis of VLS. To develop a ML-trained image-based model for the detection of VLS. Images of both VLS and non-VLS anogenital skin were collected, anonymized, and selected. In the VLS images, 10 typical skin signs (whitening, hyperkeratosis, purpura/ecchymosis, erosion/ulcers/excoriation, erythema, labial fusion, narrowing of the introitus, labia minora resorption, posterior commissure (fourchette) band formation and atrophic shiny skin) were manually labelled. A deep convolutional neural network was built using the training set as input data and then evaluated using the test set, where the developed algorithm was run three times and the results were then averaged. A total of 684 VLS images and 403 non-VLS images (70% healthy vulva and 30% with other vulvar diseases) were included after the selection process. A deep learning algorithm was developed by training on 775 images (469 VLS and 306 non-VLS) and testing on 312 images (215 VLS and 97 non-VLS). This algorithm performed accurately in discriminating between VLS and non-VLS cases (including healthy individuals and non-VLS dermatoses), with mean values of 0.94, 0.99 and 0.95 for recall, precision and accuracy, respectively. This pilot project demonstrated that our image-based deep learning model can effectivelydiscriminate between VLS and non-VLS skin, representing a promising tool for future use by clinicians and possibly patients. However, prospective studies are needed to validate the applicability and accuracy of our model in a real-world setting.

Childhood brainstem lesions

Brainstem gliomas are more common in the paediatric age group as compared to adults. They have variable clinical presentations, which can range from mild to severe. Radiographic appearance on MRI, anatomical location, and molecular pathology plays a key role in management and prognostication. A multidisciplinary approach based upon the extent and type of tumour is followed. In our study, we have reported 3 such cases who presented in different ways and were diagnosed as brainstem glioma. We have also discussed various modalities of investigation and management.

Intermediate cystinosis: a case report of 10-year treatment with cysteamine

BackgroundCystinosis is a lysosomal storage disorder characterized by an autosomal recessive phenotype. Intermediate cystinosis, which progresses slowly and causes renal failure, accounts for approximately 5% of all cystinosis cases. Patients with intermediate cystinosis may not exhibit the typical symptoms of cystinosis, such as Fanconi syndrome and ocular symptoms. Because of its diverse clinical presentation and rarity, intermediate cystinosis can be difficult to diagnose. Additionally, few patients can tolerate cystine-depleting drugs, such as cysteamine, because of their complicated administration schedules and side effects. We report a case of intermediate cystinosis that was treated with cysteamine for 10 years.Case presentationUrinary abnormalities were first diagnosed when the patient was 3 years of age during a health examination specifically for 3-year-old children, which is unique to Japan. Cystinosis was diagnosed when the patient was 12 years of age. Cysteamine therapy was initiated and regular cystine concentration measurements were performed. Although proteinuria persisted, the patient’s renal function progressed slowly. Two renal biopsies were performed, and multinucleated podocytes and cystine crystals without focal segmental glomerulosclerosis lesions were observed in the biopsy specimens. The patient’s renal function remained stable.ConclusionsThis case of intermediate cystinosis was treated with cysteamine over the course of 10 years. Intermediate cystinosis requires an appropriate diagnosis and long-term treatment.

Multi-omics profiling reveals peripheral blood biomarkers of multiple sclerosis: implications for diagnosis and stratification.

Multiple sclerosis (MS), a chronic autoimmune disorder marked by demyelination in the central nervous system, is exceptionally uncommon in China, and remains poorly understood in terms of its peripheral blood manifestations. We conducted a cohort study comprising 39 MS patients and 40 normal controls (NC). High-dimensional mass cytometry, protein arrays, and targeted metabolomics were utilized to profile immune subsets, proteins, and metabolites in blood. Differences in multi-omics signatures were scrutinized across varying MS subtypes. Immune profiling demonstrated an elevation in various B cell subsets and monocytes, alongside a reduction in dendritic cells among MS patients. Proteomic data revealed a downregulation in neurotrophic and tissue repair proteins. Metabolomic assessment showed a noted decrease in anti-inflammatory molecules and sphingolipids. Integrated analysis identified distinct molecular patterns distinguishing MS from controls. Additionally, multi-omics differences among different MS subtypes were uncovered. Notably, hippuric acid levels was consistently lower in MS subgroups with greater disease severity. This study represents the pioneering exploration of multi-omics in Chinese MS patients, presenting a comprehensive view of the peripheral blood changes in MS. Our study underscores the robust capability of multi-omics assessments in identifying peripheral blood biomarkers that delineate the varied clinical presentation, and facilitates future development of biomarkers and targeted therapeutic interventions in MS.

Current trends in the management of hypospadias: the Ibero-American experience

Introduction: Hypospadias management has seen various trends over the years, likely due to the diverse clinical presentations and evolving surgical techniques. However, there is a lack of consensus among pediatric urologists on many aspects of hypospadias management. To address this, our research aims to survey specialists and establish a consensus on hypospadias management. Methodology: In July 2021, a cross-sectional study was conducted using a Survey Monkey questionnaire consisting of 23 questions. The survey aimed to gather information about the generalities and management preferences of distal and proximal hypospadias from specialists belonging to the Ibero-American Society of Pediatric Urology (SIUP). The data collected was categorized into subgroups based on surgical techniques, perioperative preferences, and complications. Results: Most hypospadias surgeries are performed between 13-18 months. Penile curvature is evaluated with artificial erection and visual inspection. The Nesbit technique (36.1%) and ventral corportomies (26.9%) corrections are more common, while grafts corporoplasties are used less frequently (10.2%) for correction. For urethroplasty, the surveyed group prefers using a running suture or a combination of continuous and interrupted stitches (49.1% and 24.3%, respectively). The use of Polydioxanone 6-0 in a double-layer suture group yielded a higher response rate. The use of prophylactic antibiotics and their maintenance when the catheter is in place was also favored by most surgeons. Discussion: When repairing hypospadias, the surgeon must consider factors such as the quality of the urethral plate, the presence of penile curvature, and the location of the urethral opening. This study highlights the different strategies and technical preferences used for hypospadias repair by a group of specialists from different countries. Conclusion: The survey describes current trends in hypospadias management. Two-stage repair is commonly used for proximal hypospadias, while TIP repair is the most used technique for distal hypospadias. The most common complication is the development of an urethrocutaneous fistula.

Comparison of polymeric clip and endoloop in laparoscopic appendectomy: A systematic review and meta-analysis

BackgroundAppendicitis is a common surgical emergency with diverse clinical presentations, making its diagnosis challenging. Laparoscopic appendectomy has become the standard treatment, with various methods for appendiceal stump closure, including polymeric clips and endoloops. This study aims to compare the efficacy and safety of polymeric clips compared with endoloops in laparoscopic appendectomy. MethodsA systematic review and meta-analysis were conducted followingPreferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. PubMed, Medline, Scopus, and Embase were searched for studies up to March 25, 2024. ResultsIn total, 13 studies, including 6 randomized controlled trials, were analyzed. Polymeric clipping demonstrated significantly shorter surgical time compared with the endoloop (standardized mean difference 0.37, 95% confidence interval 0.22–0.53, P < .00001), with no difference in hospital stay or overall complications. However, the endoloop was associated with a greater incidence of intra-abdominal abscess (risk ratio 3.53, 95% confidence interval 1.56–8.00, P = .003). Other outcomes, including time from instrument application to appendiceal cutting, ileus, and surgical-site infection, showed no significant differences between the 2 techniques. ConclusionPolymeric clipping appears to be superior to endoloop in terms of shorter surgical time and lower risk of intra-abdominal abscess formation in laparoscopic appendectomy for uncomplicated appendicitis. However, both techniques have similar outcomes regarding hospital stay and overall complications. Further research addressing study limitations and exploring patient-centered outcomes is warranted to guide clinical practice.

An Inflammatory Myofibroblastic Tumour Presenting with Limited Mouth-Opening, Hypoesthaesia of The Left Chin and Infraorbital Area, Intermittent Left Eye Ptosis and Converging Strabismus.

An inflammatory myofibroblastic tumour (IMT) is a challenging disease.Given the variable clinical and radiological presentation of the disease, it is of paramount importance to know it, to be swiftly recognised so diagnosis can be promptly made.The adapted treatment should be immediately started to prevent possible life-threatening outcomes.

Investigating cutaneous tuberculosis and nontuberculous mycobacterial infections a Department of Dermatology, Beijing, China: a comprehensive clinicopathological analysis.

Cutaneous tuberculosis (CTB) and nontuberculous mycobacteria (NTM) infections present considerable diagnostic and therapeutic challenges. This study aims to provide a comprehensive clinicopathological analysis of CTB and NTM infections. We conducted a retrospective analysis of 103 patients diagnosed with cutaneous tuberculosis (CTB) and nontuberculous mycobacteria (NTM) infections at a Beijing dermatology department from January 2000 to January 2024. Demographic, clinical, histological, and laboratory finding data were collected. Diagnostic methods and histopathological examination were recorded. Treatment regimens and outcomes were reviewed. Descriptive statistics were used to summarize demographic and clinical data, and continuous variables expressed as means and standard deviations (SD), and categorical variables as frequencies and percentages. Statistical analyses were conducted using SPSS version 25.0. The cohort included 103 patients (40.8% males and 59.2% females), with a mean age of 51.86 years. Common clinical manifestations included nodules (97.1%), erythema (74.8%), and plaques (68.9%). Histological examination revealed hyperkeratosis (68.9%), parakeratosis (23.3%), and extensive neutrophil infiltration (95.1%) were observed. Acid fast bacteria (AFB) stains and nucleic acid tests exhibited respective positivity rates of 39.6% and 52.3%, respectively. Most patients were treated with a combination of three drugs; 77.1% of patients showed improvement, with the cure rate for CTB being 20.0%. This study highlights the diverse clinical and histological presentations of CTB and NTM infections, emphasizing the need for comprehensive diagnostic approaches. The variability in treatment regimens reflects the complex management of these infections. The implementation of advanced molecular techniques and standardized treatment protocols is imperative for enhancing diagnostic precision and therapeutic outcomes.

Comparative analysis of pediatric pulmonary and extrapulmonary tuberculosis: A single-center retrospective cohort study in Syria

BackgroundTuberculosis (TB) is a global public health challenge, contributing significantly to morbidity and mortality worldwide. This research aims to investigate the epidemiology, clinical characteristics, diagnostic methods, and early mortality rate among pediatric patients with pulmonary tuberculosis (PTB) and extrapulmonary tuberculosis (EPTB) who were admitted to a hospital in Syria. MethodsThis retrospective cohort study was conducted at the University Children's Hospital in Syria, involving pediatric patients diagnosed with TB between January 2013 and January 2023. Data were collected from medical records and encompassed socio-demographic characteristics, diagnostic methods, clinical presentation, chest radiography findings, and patient outcomes. Statistical analysis was performed using SPSS version 25. ResultsA total of 129 patients were included in the study, with 26.4 % diagnosed with PTB and 73.6 % with EPTB. The most common types of EPTB were lymphatic (25.6 %) and gastrointestinal (17.1 %). Patients with PTB and EPTB did not differ significantly in terms of age, weight, or gender. Significant cough was more common in PTB cases (67.6 %), while lymphadenopathy was more prevalent in EPTB cases (48.4 %). Chest X-ray abnormalities were found in 58.1 % of patients, with PTB patients more likely to have abnormal findings (97.1 %). Microbiological confirmation was higher in PTB cases (76.5 %) compared to EPTB cases (25.3 %). The overall mortality rate was 14 %, with higher mortality observed in patients with EPTB (16.8 %), particularly in cases of TB meningitis. ConclusionOur study highlights the epidemiological challenges of TB among hospitalized children, with a focus on the complexities of diagnosing and managing EPTB. We emphasize the urgent need for enhanced diagnostic and management strategies, particularly in conflict zones like Syria, where TB control efforts face significant obstacles. Prompt solutions are imperative to improve outcomes, given the high occurrence of EPTB and its associated mortality rates. Clinical recommendations stress the need for comprehensive contact histories and awareness of varied clinical presentations in pediatric TB diagnosis.

Multi-locus sequence typing and genetic diversity of antibiotic-resistant genes and virulence-associated genes in Burkholderia pseudomallei: Insights from whole genome sequencing of animal and environmental isolates in Thailand

Burkholderia pseudomallei is a Gram-negative bacillus and the etiological agent of melioidosis in humans and animals. The disease is highly endemic in northern Australia and Southeast Asia. Comprehensive genomic data are essential for understanding the bacteria's dissemination and genetic relationships among strains from different geographical regions. In this study, we conducted antimicrobial susceptibility testing and whole-genome sequencing of 54 B. pseudomallei isolates obtained from environmental and animal sources in southern Thailand between 2011 and 2018. Their genomics were determined of antibiotic-resistant genes (ARGs), virulence-associated genes, mobile genetic elements (MGEs), sequence types (STs), and single nucleotide polymorphisms (SNPs) to evaluate their epidemiological relatedness. Remarkably, all 54 isolates displayed sensitivity to antimicrobial agents typically used for melioidosis treatment. We identified nine distinct sequence types: ST392, ST51, ST409, ST508, ST376, ST1721, ST389, ST395, and ST289. Oxacillinase genes and the resistance nodulation family of efflux pumps (RND) were identified as contributors to antimicrobial resistance. Phylogenetic analysis demonstrated close genetic relations with other strains isolated from Southeast Asia. Furthermore, 172 virulence-associated genes were identified among the isolates, suggesting variations in clinical presentations. These findings underscore the importance of ongoing molecular genetic surveillance of B. pseudomallei for effective healthcare management and reducing melioidosis mortality.

Primary Cauda Equina Lymphoma Mimicking Meningioma

Background: Spinal cord lymphomas represent a minority of extranodal lymphomas and often pose diagnostic challenges by imitating primary spinal tumors or inflammatory/infective lesions. This paper presents a unique case of primary cauda equina lymphoma (PCEL) and conducts a comprehensive review to delineate the clinical and radiological characteristics of this rare entity. Case Report: A 74-year-old male presented with progressive paresthesia, motor weakness, and symptoms indicative of cauda equina syndrome. Neurological examination revealed paraparesis and sphincter dysfunction. Imaging studies initially suggested an intradural meningioma. However, surgical intervention revealed a diffuse large B-cell lymphoma infiltrating the cauda equina. Findings: A systematic review of the pertinent literature identified 18 primary cauda equina lymphoma cases. These cases exhibited diverse clinical presentations, treatments, and outcomes. The mean age at diagnosis was 61.25 years for women and 50 years for men, with an average follow-up of 16.2 months. Notably, 35% of patients were alive at 18 months, highlighting the challenging prognosis associated with PCEL. Discussion: Primary spinal cord lymphomas, especially within the cauda equina, remain rare and diagnostically complex due to their nonspecific clinical manifestations. The review highlights the need to consider spinal cord lymphoma in patients with neurological symptoms, even without a history of systemic lymphoma. Diagnostic Approaches: Magnetic resonance imaging (MRI) serves as the primary diagnostic tool but lacks specificity. Histopathological examination remains the gold standard for definitive diagnosis. The review underscores the importance of timely biopsy in suspected cases to facilitate accurate diagnosis and appropriate management. Management and Prognosis: Current management involves biopsy and chemotherapy; however, optimal treatment strategies remain ambiguous due to the rarity of PCEL. Despite aggressive therapeutic interventions, prognosis remains poor, emphasizing the urgency for enhanced diagnostic and treatment modalities. Conclusions: Primary cauda equina lymphoma poses diagnostic and therapeutic challenges, necessitating a high index of suspicion in patients with atypical spinal cord symptoms. Collaborative efforts between neurosurgical, oncological, and infectious diseases teams are imperative for timely diagnosis and management. Advancements in diagnostic precision and therapeutic options are crucial for improving patient outcomes.

Biallelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotype.

The mitoribosome synthesizes 13 protein subunits of the oxidative phosphorylation system encoded by the mitochondrial genome. The mitoribosome is composed of 12S rRNA, 16S rRNA and 82 mitoribosomal proteins encoded by nuclear genes. To date, variants in 12 genes encoding mitoribosomal proteins are associated with rare monogenic disorders, and frequently show combined oxidative phosphorylation deficiency. Here, we describe five unrelated individuals with biallelic variants in the DAP3 nuclear gene encoding mitoribosomal small subunit 29 (MRPS29), with variable clinical presentations ranging from Perrault syndrome (sensorineural hearing loss and ovarian insufficiency) to an early childhood neurometabolic phenotype. Assessment of respiratory chain function and proteomic profiling of fibroblasts from affected individuals demonstrated reduced MRPS29 protein levels, and consequently decreased levels of additional protein components of the mitoribosomal small subunit, associated with a combined complex I and IV deficiency. Lentiviral transduction of fibroblasts from affected individuals with wild-type DAP3 cDNA increased DAP3 mRNA expression, and partially rescued protein levels of MRPS7, MRPS9 and complex I and IV subunits, demonstrating the pathogenicity of the DAP3 variants. Protein modelling suggested that DAP3 disease-associated missense variants can impact ADP binding, and in vitro assays demonstrated DAP3 variants can consequently reduce both intrinsic and extrinsic apoptotic sensitivity, DAP3 thermal stability and DAP3 GTPase activity. Our study presents genetic and functional evidence that biallelic variants in DAP3 result in a multisystem disorder of combined oxidative phosphorylation deficiency with pleiotropic presentations, consistent with mitochondrial dysfunction.

Clinical characteristics and outcomes of perinatal stroke in Australia: Population-based longitudinal study.

Perinatal stroke is one of the main causes of hemiplegia and seizure disorder. This study aimed to analyse the clinical characteristics and outcomes of perinatal stroke in a cohort of Australian children for its early detection. A population-based prospective longitudinal study on perinatal stroke up to 2 years of age, was conducted from 2017 to 2019. Eighty-seven children with perinatal stroke included 79% (69/87) acute and 21% (18/87) presumed perinatal stroke. Seventy-four per cent (51/69) acute symptomatic perinatal strokes presented in the first 3 days of life and 78% (14/18) presumed perinatal strokes presented by 6 months of age. 62% had an arterial stroke, 29% had a venous stroke and 5% had a combined arterial and venous stroke. Unexpectedly, 35% (24/69) acute symptomatic perinatal stroke had only respiratory symptoms and 50% (9/18) presumed perinatal stroke were asymptomatic. The incidence of cerebral palsy was 29% (20/69) with acute symptomatic perinatal stroke and 72% (13/18) with presumed perinatal stroke. The first week of a child's life is the most critical period in terms of lifelong disability from perinatal stroke. Recognising diverse clinical presentations will ensure early diagnosis and timely intervention treatments.

Manifestation of ocular tuberculosis in a north Indian tertiary care centre: Case series

Ocular tuberculosis acts as a challenge throughout the world, and its pathophysiology, diagnosis, and treatment are a topic for debate. The present case series represents retrospective study focusing on the variable clinical presentations, the diagnostic and therapeutic characteristics of ocular tuberculosis. We report 12 patients of ocular tuberculosis with variable presentations. : Retrospective analysis of records of patients diagnosed with ocular tuberculosis from August 2022 till March 2023 was done. Diagnosis of ocular tuberculosis was based on detailed ocular and systemic examination including best corrected visual acuity (BCVA), Slit lamp examination, fundus examination, OCT. The patients presenting with features suggestive of ocular tuberculosis were further investigated with complete blood count (CBC), erythrocyte sedimentation rate (ESR), Monteaux test, Chest X-ray, Cartridge Based Nuclear Amplification Test (CBNAAT) and rheumatological work up. Out of 12 of ocular tuberculosis patients, 4 were diagnosed with active retinal vasculitis, 3with choroiditis, 3 had panuveitis, and remaining 2 patients had unilateral nodular episcleritis. The diagnosis was based on compatible clinical picture, highly positive Tuberculin skin test and dramatic response to anti-tuberculous drugs. All 12 cases were strongly Mantaux test positive (2 developed injection site ulceration). All cases were started on ATT immediately with pulmonologist consultation and showed clinical improvement after 1 month. Ocular tuberculosis can have myriad presentations. Positive Mantaux test plays an important role in supporting diagnosis of ocular tuberculosis.

Malignant Recurrence of Benign Odontogenic Tumors (A Single Center Cross-Sectional Study)

BackgroundDespite their rarity, malignant odontogenic tumors (MOT) represent an important group of oral lesions characterized by their variable clinical presentations and sometimes unexpected biological behavior.ObjectivesThe purpose of this retrospective cross-sectional study was to evaluate the number, types, and frequency of MOT and to investigate the relative rate of malignant transformation in recurrent odontogenic tumors (OT).MethodologyThe records of patients diagnosed with OT in the hospital of the Faculty of Dentistry, Cairo University, were reviewed over 10 years (2013-2022). The OT were investigated for frequency, age, gender, site, and recurrence. The data were recorded and then analyzed using SPSS software version 25.ResultsAmong 5543 oral excisions, 357 cases of them were OT, including 336 benign (94.1%) and 21 malignant neoplasms (5.9%). Among the odontogenic malignancies, 18 lesions (85.7%) appeared de novo, and 3 lesions (14.3%) developed as recurrent of previously classified benign tumors. A high incidence was observed in the middle and old age groups (90.4%) with a median age being 42. Slight male predilection (1.3:1) was noticed. The mandible was the highly affected site but all recurrent cases were diagnosed in the maxilla as ghost cell odontogenic carcinoma (n = 2, 66.6%) and primary intraosseous carcinoma (n = 1, 33.3%).ConclusionRetrospective analysis of the relative frequency of MOT and the documentation of the unusual recurrence of benign OT as a malignancy enhances our understanding of OT behavior and the need for appropriate therapy and clinical follow-up.

Coccygeal tumours unveiled: a retrospective cohort analysis from a tertiary referral centre.

Isolated tumours affecting the coccyx are infrequent, with only a handful of documented cases in the literature. Herein, we highlight the most extensive consecutive case series involving various isolated coccyx tumours with varied clinical presentations and imaging features. A retrospective search of our tertiary Orthopaedic oncology institute's oncology and Radiology database [Radiology Information System, Picture Archiving and Communication System, and Computerised Radiology Information System] for the keyword "Coccyx" and "Tumour" was performed over 15 years (between December 2007 and August 2022). Data collected was correlated with local histopathology and laboratory records. Patient demographics, clinical characteristics, and complementary imaging findings were recorded for analysis. One hundred and three lesions originating in the coccyx with a mean age of 62 years (range 25-90 years) were identified. There was a male preponderance with 59 male and 44 female patients (1.3:1.0). The most typical tumour noted was chordoma. Other lesions included a dermoid cyst, a myxopapillary ependymoma, a notochordal remnant, an osteochondroma, an Ewing sarcoma, and a teratoma. Our analysis suggests that most of the tumours involving coccyx are chordomas with a few rarely encountered benign and malignant tumours. Radiological imaging plays a vital role in characterising isolated tumours affecting the coccyx and guiding appropriate patient management. This is the largest reported series of coccygeal tumours. Chordoma is the commonest coccygeal tumour. Patients with unexplained coccydynia should undergo detailed investigations, preferably with cross-sectional imaging.

A Case Report of Fetal Split Hand Foot Malformation Syndrome: A Rare Congenital Limb Anomaly

AbstractFetal split hand foot malformation (SHFM) syndrome is a rare congenital disorder characterized by developmental abnormalities of fingers and/or toes, resulting in a split appearance. SHFM is sporadic and shows mainly autosomal dominant inheritance with variable clinical presentation. Prenatal diagnosis plays a crucial role in the management and in counseling of affected families. In this case report, we present the diagnosis of SHFM through ultrasound imaging and genetic testing in a primigravida, along with post abortal fetal findings. The aim was to highlight the importance of early detection during routine ultrasound and genetic counseling for appropriate understanding and management of this rare limb condition.

Ovarian teratoma-associated Anti-NMDAR encephalitis in women with first-time neuropsychiatric symptoms: A meta-analysis and systematic review of reported cases

ObjectiveAnti-N-methyl-d-aspartate receptor (NMDAR) encephalitis is frequently associated with ovarian teratomas. The diverse clinical presentations and several stages of disease development pose a significant diagnostic challenge for clinicians. The main objective of this research was to show the prevalence of neuropsychiatric symptoms of ovarian-teratoma-associated anti-NMDAR encephalitis and to highlight the importance of multidisciplinary collaboration in the diagnosis, treatment, and prevention of disease progression. MethodsLiterature searches were carried out using PubMed, Scopus, and Web of Science Core Collection. The following data were retrieved: authors' names, year of publication, type of study, number and age of patients included, diagnostic methods of disease evaluation, prevalence of anti-NMDAR antibodies, psychiatric manifestations, other symptoms, initial diagnosis, treatment strategies, and histopathology results. Data analyses were performed and considered statistically significant when p < 0.05. ResultsOur study included 98 female patients with encephalitis associated with a teratoma. The study group reported specific symptoms more often than expected in the general population (p < 0.05). The incidence of seizures deviated most from rates in the general population. The major significant differences were observed in cases of psychosis, seizures, hypoventilation, aphasia, and coma. ConclusionsTeratoma-associated anti-NMDAR encephalitis diagnosis should be systematically investigated in patients presenting with first-time psychotic episodes. Prompt diagnosis and treatment are imperative for prevention of disease progression and better outcomes. Screening and identification of anti-NMDAR antibodies and considering the association of ovarian teratoma and neuropsychiatric symptoms suggesting encephalitis are critical for establishing the proper diagnosis.

Role and potential of 18F-fluorodeoxyglucose-positron emission tomography-computed tomography in large-vessel vasculitis: a comprehensive review.

Large-vessel vasculitis (LVV) is a group of diseases characterized by inflammation of the aorta and its main branches, which includes giant cell arteritis (GCA), polymyalgia rheumatica (PMR), and Takayasu's arteritis (TAK). These conditions pose significant diagnostic and management challenges due to their diverse clinical presentations and potential for serious complications. 18F-fluorodeoxyglucose positron emission tomography-computed tomography (18F-FDG-PET-CT) has emerged as a valuable imaging modality for the diagnosis and monitoring of LVV, offering insights into disease activity, extent, and response to treatment. 18F-FDG-PET-CT plays a crucial role in the diagnosis and management of LVV by allowing to visualize vessel involvement, assess disease activity, and guide treatment decisions. Studies have demonstrated the utility of 18F-FDG-PET-CT in distinguishing between LVV subtypes, evaluating disease distribution, and detecting extracranial involvement in patients with cranial GCA or PMR phenotypes. Additionally, 18F-FDG-PET-CT has shown promising utility in predicting clinical outcomes and assessing treatment response, based on the correlation between reductions in FDG uptake and improved disease control. Future research should focus on further refining PET-CT techniques, exploring their utility in monitoring treatment response, and investigating novel imaging modalities such as PET-MRI for enhanced diagnostic accuracy in LVV. Overall, 18F-FDG-PET-CT represents a valuable tool in the multidisciplinary management of LVV, facilitating timely diagnosis and personalized treatment strategies to improve patient outcomes.

Varied clinical presentations of RP1L1 variants in Chinese patients: a study of occult macular dystrophy and vitelliform macular dystrophy

BackgroundOccult Macular Dystrophy (OMD), primarily caused by retinitis pigmentosa 1-like 1 (RP1L1) variants, is a complex retinal disease characterised by progressive vision loss and a normal fundus appearance. This study aims to investigate the diverse phenotypic expressions and genotypic correlations of OMD in Chinese patients, including a rare case of Vitelliform Macular Dystrophy (VMD) associated with RP1L1.MethodsWe analysed seven OMD patients and one VMD patient, all with heterozygous pathogenic RP1L1 variants. Clinical assessments included Best Corrected Visual Acuity (BCVA), visual field testing, Spectral Domain Optical Coherence Tomography (SD-OCT), multifocal Electroretinograms (mfERGs), and microperimetry. Next-generation sequencing was utilised for genetic analysis.ResultsThe OMD patients displayed a range of phenotypic variability. Most (5 out of 7) had the RP1L1 variant c.133 C > T; p.R45W, associated with central vision loss and specific patterns in SD-OCT and mfERG. Two patients exhibited different RP1L1 variants (c.3599G > T; p.G1200V and c.2880G > C; p.W960C), presenting milder phenotypes. SD-OCT revealed photoreceptor layer changes, with most patients showing decreased mfERG responses in the central rings. Interestingly, a unique case of VMD linked to the RP1L1 variant was observed, distinct from traditional OMD presentations.ConclusionsThis study highlights the phenotypic diversity within OMD and the broader spectrum of RP1L1-associated macular dystrophies, including a novel association with VMD. The findings emphasise the complexity of RP1L1 variants in determining clinical manifestations, underscoring the need for comprehensive genetic and clinical evaluations in macular dystrophies.