Variable Clinical Presentation Research Articles

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.

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.

Sex differences in Chronic Thromboembolic Pulmonary Hypertension.

Chronic thromboembolic pulmonary hypertension (CTEPH) is an underdiagnosed sequela of acute pulmonary embolism with varied clinical presentation causing significant morbidity among the affected population. There exist important differences in the occurrence, clinical features and diagnosis of CTEPH between men and women, with women carrying a greater predisposition for the disease. Ongoing studies have also pointed out variations among men and women, in the treatment offered and long-term outcomes including mortality. This focused review article highlights important sex-associated differences in multiple aspects of CTEPH including its epidemiology, clinical features, diagnosis, treatment and outcomes as reported in current literature and highlights the need for future research to facilitate a clearer understanding of these differences.

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.

Isolated Respiratory Failure as the Presenting Symptom of Muscle Specific Kinase Myasthenia Gravis: A Case Report and Literature Review

Introduction: Anti-MuSK antibodies obstruct MuSK binding sites, leading to acetylcholine receptor (AChR) displacement within the postsynaptic membrane. MuSK MG patients often exhibit bulbar involvement and respiratory crises, setting them apart from other MG subtypes. Case Presentation: A case of a 51-year-old male with MuSK MG that presented as isolated respiratory failure was compared to similar cases in the literature. The objective is to explore the varied clinical presentations, treatment approaches, and outcomes, and to better understand the management of this subgroup of MG. The patient responded well to treatment with pyridostigmine, steroids, and Intravenous Immunoglobulins (IVIG) and immunosuppressive therapy. Conclusion: A review of the literature revealed varied clinical presentations and treatment approaches among reported cases. Long-term prognosis appears favorable, requiring ongoing immunosuppressive management. Although the reported outcomes of MuSK MG patients with respiratory insufficiency show substantial heterogeneity, long-term prognosis appears favorable. MeSH Terms: Myasthenia Gravis, Respiratory Insufficiency, Immunosuppressive Agents, Prognosis, Therapeutics

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.

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.

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.

Post-COVID-19 Condition: How Sociodemographic Factors, Physical Well-Being and Functionality Influence Quality of Life and Mental Health Symptoms.

Long COVID-19 syndrome remains a global public health problem, with more than 145 million people affected with multisystemic symptoms. Addressing the requirements of individuals impacted by a syndrome characterised by a complex and variable clinical presentation is of utmost importance. Identifying the variables that can exert influence and understanding their progression is essential for directing treatment strategies aimed at enhancing both independence and quality of life. Therefore, the aim of this study was to analyse the influence of sociodemographic and clinical variables on existence and their relationship with asthenia, anxiety symptoms and low mood. An analytical study secondary to an observational cross-sectional descriptive study. Logistic regression showed significant univariate effects on asthenia [sex (p = 0.034); age (p = 0.042); Activities of Daily Living Questionnaire [ADQL (p = 0.002)] [physical functioning (p < 0.001) and general health (p = 0.014)] and multivariate [sex (p = 0.019), adult age (p = 0.01) and physical functioning (p = 0.04)]]; low mood [time of evolution (p = 0.028) and multivariate [time course (p = 0.007), ADLQ (p = 0.011), role physical (p = 0.013) and general health (p = 0.001)]] and anxiety [physical functioning (p = 0.046) and multivariate [physical functioning (p = 0.034), age (p = 0.011), time of evolution (p = 0.001) and ADQL (p = 0.011)]]. Increased age, gender and longer evolution time seem to favour the prevalence and occurrence of mental health symptoms; greater independence and good physical functioning are protective factors with respect to the occurrence of mental health-related symptoms in patients affected by post-COVID-19 condition.

Urethral duplication with a large cystic dorsal penile mass in a newborn: a case report

BackgroundUrethral duplication is a rare urogenital anomaly with varying anatomical orientations leading to diverse clinical presentations. We present a case of urethral duplication in a neonate featuring a large dorsal cystic mass on the penis, an unusual presentation.Case presentationA term male neonate with a prenatally diagnosed 10 × 10 cm genitourinary cystic mass was delivered via caesarean section. Examination revealed a large cystic mass extending dorsally from the pubic symphysis over a flattened, elongated penile shaft with a single urethral opening in the glans and undescended testes. A size 6-French feeding tube inserted into the urethra drained the bladder.Urethral communication with the cystic mass was confirmed via voiding cystourethrogram and cyst enlargement noted during voiding. Cyst fluid analysis indicated a urinary origin. Computed tomography and ultrasound were not diagnostic. Initial imaging revealed a dorsal cystic mass projecting from the pubic symphysis without bladder connection.Surgical intervention at 3 weeks revealed a Type IIA-2 urethral duplication, with a dorsal hypoplastic urethra communicating with the posterior urethra. Correction included resection of the dorsal urethra, cyst excision, and reconstruction of the penis with the orthotopic ventral urethra and bilateral orchidopexies.Satisfactory functional and cosmetic outcomes were observed at 2 and 8 months after surgery.ConclusionThis case highlights the significance of identifying unique urethral duplication presentations. The novel occurrence of Type IIA-2 urethral duplication terminating in a dorsal cystic mass underscores diagnostic complexity, surgical intricacies, and aesthetic considerations associated with such cases.

A series of four patients with Sotos syndrome harboring novel NSD1 mutations: clinical and molecular description.

Sotos syndrome is a rare and complex genetic disorder caused by haploinsufficiency of the NSD1 gene. This syndrome is characterized by rapid early childhood growth, distinct facial features, a learning disability, and multiple other developmental and behavioral challenges. In this work, we describe four Moroccan patients with variable clinical presentations of Sotos syndrome, in whom we identified four novel NSD1 monoallelic pathogenic variants by conducting targeted Next Generation Sequencing. Genetic testing allowed us to provide a precise medical diagnosis to our patients and tailor interventions to each patient's needs. Being the first work describing a series of Moroccan patients with this syndrome, this case series contributes to the growing body of literature on Sotos syndrome and provides valuable insights into the clinical and molecular characteristics of this rare disorder.

Clinical, Etiological, and Imaging Study of Patients with Cerebral Sinus Venous Thrombosis in a Tertiary Care Hospital.

To study the clinical profile, etiology, and imaging features of subjects presenting with cerebral sinus venous thrombosis (CVST) and to correlate the clinical findings with radiological findings. The study included 120 patients admitted with the diagnosis of CVST to Stanley Medical College and Hospital, Chennai. The study included patients of all age-groups presenting with cerebral venous thrombosis. The diagnosis was confirmed by imaging studies. The mean age of presentation is 24.4, predominantly males. Headache (90.8%) was the most common presentation, followed by seizures (25%), and paresis (12%). The superior sagittal sinus (SSS) is the most common sinus involved, with multiple sinuses involved in 47% of patients. Magnetic resonance imaging (MRI) brain with magnetic resonance venography (MRV) is the investigation of choice. The most common risk factor for CSVT was alcohol intake, especially in males, and females, anemia, pregnancy, usage of oral contraceptive (OC) pills, and puerperium were the common risk factors. The causes of CSVT in this study were hyperhomocystenemia in 8%, anemia in 13%, and prothrombotic state in 6%. Cerebral sinus venous thrombosis is a cause of stroke in young individuals. Even though uncommon, it is underdiagnosed because of its extremely varied clinical presentation. The correct diagnosis of CSVT relies on a high index of suspicion and the availability of advanced imaging like MRI with MR venography.

Clinical Manifestation and Multidisciplinary Treatment Approaches for Primary Tracheal Carcinoma in Bangladesh: A Clinical and Therapeutic Review of 13 Patients.

Primary tracheal carcinoma is an exceptionally rare and life-threatening disease that presents significant diagnostic and therapeutic challenges. Delayed diagnosis due to misinterpretation of airway obstruction symptoms often leads to poorer prognoses for patients. This study aimed to explore the clinical manifestations and multidisciplinary treatment approaches for primary tracheal carcinoma in Bangladesh, with a focus on recent advancements in diagnosis and treatment. A retrospective observational study was conducted at Bangladesh Specialized Hospital Limited, involving patients aged over 30 who were diagnosed with tracheal carcinoma and underwent multidisiplinary treatment from July 2018 to June 2019. Data were collected through patient interviews and medical record reviews. Descriptive and inferential statistical analyses were performed to examine demographic characteristics, histological variations, tumor locations, clinical signs and symptoms, treatment approaches, and outcomes. The study illuminated varied clinical presentations and the successful application of multidisciplinary approaches among the 13 patients. Invasive squamous cell carcinoma and adenoid cystic carcinoma were the predominant histological subtypes. Symptomatology, including dyspnea, cough, and hemoptysis, highlighted the challenge of early detection. Despite the rarity and intricacies associated with primary tracheal carcinoma, the multidisciplinary strategy yielded generally positive outcomes, as evidenced by a 1-year survival rate of 92.31% and a 5-year survival rate of 76.92%. Kaplan-Meier survival curves underscored the superior efficacy of surgical interventions over non-surgical approaches. Despite some limitations, this study contributes crucial insights into the nuanced management of primary tracheal carcinoma in the Bangladeshi context. The demonstrated success of the multidisciplinary strategy, especially surgical interventions, accentuates the importance of definitive resection. The lone case of local recurrence emphasizes the necessity for vigilant follow-up.

Neuromyelitis optica spectrum disorder: Exploring the diverse clinical manifestations and the need for further exploration.

Neuromyelitis optica spectrum disorder (NMOSD) is an autoimmune disorder characterized by inflammatory assaults on the central nervous system (CNS), particularly on the optic nerves and spinal cord. In recent years, a wider range of clinical manifestations of this complex disease have been observed, emphasizing the importance of gaining a more profound understanding beyond optic neuritis (ON) and transverse myelitis (TM). This study explores the many clinical symptoms of NMOSD, including common and uncommon presentations. Distinctive aspects of ON, TM, and diencephalic/brainstem syndromes are examined, highlighting their unique characteristics in contrast to conditions such as multiple sclerosis. We also discuss extra-CNS involvement, such as unusual signs, including muscle involvement, retinal injury, auditory impairment, and rhinological symptoms. Our study intends to highlight the wide range and complexity of NMOSD presentations, emphasizing the significance of identifying unusual symptoms for precise diagnosis and prompt management. The specific processes that contribute to the varied clinical presentation of NMOSD are not well understood despite existing information. This emphasizes the necessity for more study to clarify the mechanisms that cause different symptoms and discover new treatment targets for this complex autoimmune disorder. It is essential to acknowledge the complex and varied clinical manifestations of NMOSD to enhance diagnosis, treatment, and patient results. By enhancing our comprehension of the fundamental processes and investigating innovative therapeutic approaches, we may aim to enhance the quality of life for persons impacted by this illness.

Classification and Management of Portal Vein Thrombosis in Cirrhotic Patients: A Narrative Review.

Portal vein thrombosis (PVT) poses significant therapeutic challenges due to its complex pathophysiology and diverse clinical presentations. Recent advancements have spurred the development of new therapeutic approaches to enhance treatment efficacy and safety. This review synthesized emerging therapies for PVT based on a comprehensive literature search across major databases such as PubMed, EMBASE, and Web of Science, among others, focusing on studies published in the last decade. Anticoagulation therapy, particularly with novel oral anticoagulants (NOACs), emerged as beneficial in personalized treatment regimens. Innovative surgical techniques and improved risk stratification methods were identified as crucial in the perioperative management of PVT. Additionally, advances in cell therapy and medical treatments for hepatocellular carcinoma in the context of PVT were explored. Promising outcomes were observed with modalities such as Yttrium 90 and liver transplantation combined with thrombectomy, particularly in complex PVT cases associated with hepatocellular carcinoma, albeit on a limited scale. The reviewed literature indicates a shift towards individualized treatment approaches for PVT, integrating novel anticoagulants, refined risk assessment tools, and tailored interventional strategies. While these emerging therapies show potential for enhanced efficacy and safety, further research is essential to validate findings across broader patient populations and establish standardized treatment protocols.